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Sample records for sagittal nonsyndromic craniosynostosis

  1. Multidisciplinary care of craniosynostosis

    Directory of Open Access Journals (Sweden)

    Buchanan EP

    2017-07-01

    Full Text Available Edward P Buchanan,1 Yunfeng Xue,1 Amy S Xue,1 Asaf Olshinka,1 Sandi Lam2 1Michael E. DeBakey Department of Surgery, Division of Plastic Surgery, 2Michael E. DeBakey Department of Surgery, Division of Neurosurgery, Baylor College of Medicine, Houston, TX, USA Abstract: The management of craniosynostosis, especially in the setting of craniofacial syndromes, is ideally done in a multidisciplinary clinic with a team focused toward comprehensive care. Craniosynostosis is a congenital disorder of the cranium, caused by the premature fusion of one or more cranial sutures. This fusion results in abnormal cranial growth due to the inability of the involved sutures to accommodate the growing brain. Skull growth occurs only at the patent sutures, resulting in an abnormal head shape. If cranial growth is severely restricted, as seen in multisuture craniosynostosis, elevation in intracranial pressure can occur. Whereas most patients treated in a multidisciplinary craniofacial clinic have non-syndromic or isolated craniosynostosis, the most challenging patients are those with syndromic craniosynostosis. The purpose of this article was to discuss the multidisciplinary team care required to treat both syndromic and non-syndromic craniosynostosis. Keywords: multidisciplinary team care, syndromic craniosynostosis, nonsyndromic craniosynostosis

  2. Development of synthetic simulators for endoscope-assisted repair of metopic and sagittal craniosynostosis.

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    Eastwood, Kyle W; Bodani, Vivek P; Haji, Faizal A; Looi, Thomas; Naguib, Hani E; Drake, James M

    2018-06-01

    OBJECTIVE Endoscope-assisted repair of craniosynostosis is a safe and efficacious alternative to open techniques. However, this procedure is challenging to learn, and there is significant variation in both its execution and outcomes. Surgical simulators may allow trainees to learn and practice this procedure prior to operating on an actual patient. The purpose of this study was to develop a realistic, relatively inexpensive simulator for endoscope-assisted repair of metopic and sagittal craniosynostosis and to evaluate the models' fidelity and teaching content. METHODS Two separate, 3D-printed, plastic powder-based replica skulls exhibiting metopic (age 1 month) and sagittal (age 2 months) craniosynostosis were developed. These models were made into consumable skull "cartridges" that insert into a reusable base resembling an infant's head. Each cartridge consists of a multilayer scalp (skin, subcutaneous fat, galea, and periosteum); cranial bones with accurate landmarks; and the dura mater. Data related to model construction, use, and cost were collected. Eleven novice surgeons (residents), 9 experienced surgeons (fellows), and 5 expert surgeons (attendings) performed a simulated metopic and sagittal craniosynostosis repair using a neuroendoscope, high-speed drill, rongeurs, lighted retractors, and suction/irrigation. All participants completed a 13-item questionnaire (using 5-point Likert scales) to rate the realism and utility of the models for teaching endoscope-assisted strip suturectomy. RESULTS The simulators are compact, robust, and relatively inexpensive. They can be rapidly reset for repeated use and contain a minimal amount of consumable material while providing a realistic simulation experience. More than 80% of participants agreed or strongly agreed that the models' anatomical features, including surface anatomy, subgaleal and subperiosteal tissue planes, anterior fontanelle, and epidural spaces, were realistic and contained appropriate detail. More

  3. "Quality of Life in Adults with Non-Syndromic Craniosynostosis".

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    Mazzaferro, Daniel M; Naran, Sanjay; Wes, Ari M; Magee, Leanne; Taylor, Jesse A; Bartlett, Scott P

    2018-03-19

    While studies have analyzed quality of life (QOL) in children with non-syndromic craniosynostosis (NSC), to date nobody has investigated long-term QOL in adults with NSC. The purpose of this study is to compare QOL in adult NSC patients with a cohort of unaffected controls. We queried our institution's prospectively maintained craniofacial registry for NSC patients 18 years and older, and administered the validated World Health Organization Quality of Life (WHOQOL-BREF) questionnaire. Responses were compared, using a two-sample t-test, to an age-matched, United States, normative database provided by the World Health Organization (WHO). 151 adults met inclusion criteria: 52 were successfully contacted and 32 completed the WHOQOL-BREF. Average age of respondents was 23.0±6.1 years old (range, 18.1 to 42.1). 12 subjects had metopic synostosis, 15 had unicoronal, and 5 had sagittal. NSC patients had a superior quality of life compared to comparative norms in all domains: physical health (17.8±2.7 vs. 15.5±3.2, p0.05), while all individual subtypes maintained superior or equivalent QOL relative to controls. Demographic variables, Whitaker score, and number of surgical interventions did not correlate with differences in QOL. Adult patients previously treated for NSC perceive their quality of life to be high, superior to that of a normative United States sample. Future work will seek to analyze additional patients and better understand the reasons behind these findings.

  4. Altered brain connectivity in sagittal craniosynostosis.

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    Beckett, Joel S; Brooks, Eric D; Lacadie, Cheryl; Vander Wyk, Brent; Jou, Roger J; Steinbacher, Derek M; Constable, R Todd; Pelphrey, Kevin A; Persing, John A

    2014-06-01

    Sagittal nonsyndromic craniosynostosis (sNSC) is the most common form of NSC. The condition is associated with a high prevalence (> 50%) of deficits in executive function. The authors employed diffusion tensor imaging (DTI) and functional MRI to evaluate whether hypothesized structural and functional connectivity differences underlie the observed neurocognitive morbidity of sNSC. Using a 3-T Siemens Trio MRI system, the authors collected DTI and resting-state functional connectivity MRI data in 8 adolescent patients (mean age 12.3 years) with sNSC that had been previously corrected via total vault cranioplasty and 8 control children (mean age 12.3 years) without craniosynostosis. Data were analyzed using the FMRIB Software Library and BioImageSuite. Analyses of the DTI data revealed white matter alterations approaching statistical significance in all supratentorial lobes. Statistically significant group differences (sNSC right supramarginal gyrus. Analysis of the resting-state seed in relation to whole-brain data revealed significant increases in negative connectivity (anticorrelations) of Brodmann area 8 to the prefrontal cortex (Montreal Neurological Institute [MNI] center of mass coordinates [x, y, z]: -6, 53, 6) and anterior cingulate cortex (MNI coordinates 6, 43, 14) in the sNSC group relative to controls. Furthermore, in the sNSC patients versus controls, the Brodmann area 7, 39, and 40 seed had decreased connectivity to left angular gyrus (MNI coordinates -31, -61, 34), posterior cingulate cortex (MNI coordinates 13, -52, 18), precuneus (MNI coordinates 10, -55, 54), left and right parahippocampus (MNI coordinates -13, -52, 2 and MNI coordinates 11, -50, 2, respectively), lingual (MNI coordinates -11, -86, -10), and fusiform gyri (MNI coordinates -30, -79, -18). Intrinsic connectivity analysis also revealed altered connectivity between central nodes in the default mode network in sNSC relative to controls; the left and right posterior cingulate cortices

  5. X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review.

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    Jaszczuk, Phillip; Rogers, Gary F; Guzman, Raphael; Proctor, Mark R

    2016-05-01

    A defect in a phosphate-regulating gene leads to the most common form of rickets: X-linked hypophosphatemic rickets (XLH) or vitamin D-resistant rickets (VDDR). XLH has been associated with craniosynostosis, the sagittal suture being the most commonly involved. We present three patients with rickets and symptomatic sagittal suture craniosynostosis all of whom presented late (>2 years of age). Two had a severe phenotype and papilledema, while the third presented with an osseous bulging near the anterior fontanel and experienced chronic headaches. All underwent successful cranial vault expansion. Rachitic patients with scaphocephaly should be screened for craniosynostosis.

  6. Comparing the Use of 3D Photogrammetry and Computed Tomography in Assessing the Severity of Single-Suture Nonsyndromic Craniosynostosis.

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    Ho, Olivia A; Saber, Nikoo; Stephens, Derek; Clausen, April; Drake, James; Forrest, Christopher; Phillips, John

    2017-05-01

    Single-suture nonsyndromic craniosynostosis is diagnosed using clinical assessment and computed tomography (CT). With increasing awareness of the associated risks of radiation exposure, the use of CT is particularly concerning in patients with craniosynostosis since they are exposed at a younger age and more frequently than the average child. Three-dimensional (3D) photogrammetry is advantageous-it involves no radiation, is conveniently obtainable within clinic, and does not require general anaesthesia. This study aims to assess how 3D photogrammetry compares to CT in the assessment of craniosynostosis severity, to quantify surgical outcomes, and analyze the validity of 3D photogrammetry in craniosynostosis. Computed tomography images and 3D photographs of patients who underwent craniosynostosis surgery were assessed and aligned to best fit. The intervening area between the CT and 3D photogrammetry curves at the supraorbital bar (bandeau) level in axial view was calculated. Statistical analysis was performed using Student t test. Ninety-five percent confidence intervals were determined and equivalence margins were applied. In total, 41 pairs of CTs and 3D photographs were analyzed. The 95% confidence interval was 198.16 to 264.18 mm 2 and the mean was 231.17 mm 2 . When comparisons were made in the same bandeau region omitting the temporalis muscle, the 95% confidence interval was 108.94 to 147.38 mm 2 , and the mean was 128.16 mm 2 . Although statistically significant difference between the modalities was found, they can be attributable to the dampening effect of soft tissue. Within certain error margins, 3D photogrammetry is comparable to CT in assessing the severity of single-suture nonsyndromic craniosynostosis. However, a dampening effect can be attributable to the soft tissue. Three-dimensional photogrammetry may be more applicable for severe cases of craniosynostosis but not milder deformity. It may also be beneficial for assessing the overall appearance and

  7. Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.

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    Bendon, Charlotte L; Fenwick, Aimée L; Hurst, Jane A; Nürnberg, Gudrun; Nürnberg, Peter; Wall, Steven A; Wilkie, Andrew O M; Johnson, David

    2012-11-09

    Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1. Craniosynostosis, or premature fusion of the calvarial sutures, has not previously been described in Frank-ter Haar syndrome. We present a family of three affected siblings born to consanguineous parents with clinical features in keeping with a diagnosis of Frank-ter Haar syndrome. All three siblings have a novel mutation caused by the deletion of exon 13 of the SH3PXD2B gene. Two of the three siblings also have non-scaphocephalic sagittal synostosis associated with raised intracranial pressure. The clinical features of craniosynostosis and raised intracranial pressure in this family with a confirmed diagnosis of Frank-ter Haar syndrome expand the clinical spectrum of the disease. The abnormal cranial proportions in a mouse model of the disease suggests that the association is not coincidental. The possibility of craniosynostosis should be considered in individuals with a suspected diagnosis of Frank-ter Haar syndrome.

  8. Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases

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    Currarino, Guido [Texas Scottish Rite Hospital, Department of Radiology, Dallas, TX (United States)

    2007-08-15

    The recent observations of two new cases of X-linked hypophosphatemic rickets associated with premature closure of the sagittal suture prompted a review of similar cases seen in this institution. To review the clinical records and skull radiographs of 28 children with hypophosphatemic rickets in order to investigate the frequency and type of craniosynostosis and other cranial vault changes seen in these conditions and to review the literature for relevant findings. Clinical and imaging records were reviewed on 28 patients with hypophosphatemic rickets, all younger than 18 years. Most patients had X-linked hypophosphatemic rickets and a few had autosomal-dominant hypophosphatemic rickets or were non-familial cases. Of the 28 patients, 13 had sagittal synostosis. Dolichocephaly was present in ten patients. The configuration of the cranial vault in some of these ten patients with dolichocephaly varied somewhat from that seen in nonsyndromic sagittal synostosis. In one patient, a Chiari I malformation was demonstrated by MRI. In another patient with increased intracranial pressure the sagittal suture closure was associated with lambdoidal synostosis. Dolichocephaly was not present in three patients, suggesting that the synostosis started later than in the other patients, probably in the second year of life, a period of slower brain growth than in the first year. The two patients in this group of three showed thickening and sclerosis of the cranial vault of uncertain etiology. There is an increased risk of sagittal synostosis in hypophosphatemic rickets and related diseases in children. The appearance of the cranial vault in this type of synostosis can vary from that seen in nonsyndromic synostosis. In this setting, careful clinical and imaging follow-up is warranted. (orig.)

  9. Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases

    International Nuclear Information System (INIS)

    Currarino, Guido

    2007-01-01

    The recent observations of two new cases of X-linked hypophosphatemic rickets associated with premature closure of the sagittal suture prompted a review of similar cases seen in this institution. To review the clinical records and skull radiographs of 28 children with hypophosphatemic rickets in order to investigate the frequency and type of craniosynostosis and other cranial vault changes seen in these conditions and to review the literature for relevant findings. Clinical and imaging records were reviewed on 28 patients with hypophosphatemic rickets, all younger than 18 years. Most patients had X-linked hypophosphatemic rickets and a few had autosomal-dominant hypophosphatemic rickets or were non-familial cases. Of the 28 patients, 13 had sagittal synostosis. Dolichocephaly was present in ten patients. The configuration of the cranial vault in some of these ten patients with dolichocephaly varied somewhat from that seen in nonsyndromic sagittal synostosis. In one patient, a Chiari I malformation was demonstrated by MRI. In another patient with increased intracranial pressure the sagittal suture closure was associated with lambdoidal synostosis. Dolichocephaly was not present in three patients, suggesting that the synostosis started later than in the other patients, probably in the second year of life, a period of slower brain growth than in the first year. The two patients in this group of three showed thickening and sclerosis of the cranial vault of uncertain etiology. There is an increased risk of sagittal synostosis in hypophosphatemic rickets and related diseases in children. The appearance of the cranial vault in this type of synostosis can vary from that seen in nonsyndromic synostosis. In this setting, careful clinical and imaging follow-up is warranted. (orig.)

  10. A Review Of Referral Patterns For Sagittal Synostosis In Ireland: 2008-2013

    LENUS (Irish Health Repository)

    Berney, M J

    2018-01-01

    Sagittal synostosis (SS) is the commonest form of craniosynostosis. Children with sagittal synostosis in Ireland are treated in the National Paediatric Craniofacial Centre (NPCC) in Temple Street Children’s University Hospital. This retrospective study analysed the correlation between referral patterns to the unit and age at operation. The notes of 81 patients referred over a 5 year period (April 2008 – April 2013) to the NPCC with non-syndromic SS were reviewed and demographics and referral information were recorded. Of 81 patients reviewed, 60 (74%) were referred before 6 months of age, while 21 (26%) had late referrals. Neonatologists referred 100% of infants before 6 months, paediatricians referred 71%, and GPs 64%. Later referral was associated with a more complex referral pathway, including multiple-steps of referral and unnecessary investigations. Improved clinician knowledge and emphasis on the importance of early referral may lead to a reduction in late referrals.

  11. Study of environmental and genetic factors in children with craniosynostosis: A case-control study

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    Barik, Mayadhar; Bajpai, Minu; Das, Rashmi Ranjan; Panda, Shasanka Shekhar

    2013-01-01

    Background: Craniosynostosis is a congenital defect that causes one or more sutures on an infant's skull to close earlier than normal. Though both genetic and environmental factors play a role in its pathogenesis, there is no published Indian data to verify this. Materials and Methods: In this case-control study, we investigated the association of craniosynostosis with parental age in 50 children with craniosynostosis attending the surgical outpatient department of a tertiary care institution in North India. Results: There was a significant association of craniosynostosis with advanced parental [OR 2.17 (95% CI 1.08 to 4.36)] but not maternal age. Education status of parents also revealed that those having a higher education had an increased risk of having a child with craniosynostosis [maternal education, OR 2.32 (95% CI 1.2 to 4.76); paternal education, OR 2.51 (95% CI 1.21 to 5.0)]. Molecular analysis by sequencing confirmed following amino-acid substitution in different Exons of the FGFR2 gene. Besides these, we found other novel identical mutations in FGFR2 gene in both syndromic and non-syndromic craniosynostoses. Conclusion: This is the first epidemiological study in India that provides evidence that, advanced paternal age and higher parental education level might be associated with an increased risk of craniosynostosis. New mutations were identified in cases of both syndromic and non-syndromic craniosynostosis. PMID:24082921

  12. Use of computer-assisted design and manufacturing to localize dural venous sinuses during reconstructive surgery for craniosynostosis.

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    Iyer, Rajiv R; Wu, Adela; Macmillan, Alexandra; Musavi, Leila; Cho, Regina; Lopez, Joseph; Jallo, George I; Dorafshar, Amir H; Ahn, Edward S

    2018-01-01

    Cranial vault remodeling surgery for craniosynostosis carries the potential risk of dural venous sinus injury given the extensive bony exposure. Identification of the dural venous sinuses can be challenging in patients with craniosynostosis given the lack of accurate surface-localizing landmarks. Computer-aided design and manufacturing (CAD/CAM) has allowed surgeons to pre-operatively plan these complex procedures in an effort to increase reconstructive efficiency. An added benefit of this technology is the ability to intraoperatively map the dural venous sinuses based on pre-operative imaging. We utilized CAD/CAM technology to intraoperatively map the dural venous sinuses for patients undergoing reconstructive surgery for craniosynostosis in an effort to prevent sinus injury, increase operative efficiency, and enhance patient safety. Here, we describe our experience utilizing this intraoperative technology in pediatric patients with craniosynostosis. We retrospectively reviewed the charts of children undergoing reconstructive surgery for craniosynostosis using CAD/CAM surgical planning guides at our institution between 2012 and 2016. Data collected included the following: age, gender, type of craniosynostosis, estimated blood loss, sagittal sinus deviation from the sagittal suture, peri-operative outcomes, and hospital length of stay. Thirty-two patients underwent reconstructive cranial surgery for craniosynostosis, with a median age of 11 months (range, 7-160). Types of synostosis included metopic (6), unicoronal (6), sagittal (15), lambdoid (1), and multiple suture (4). Sagittal sinus deviation from the sagittal suture was maximal in unicoronal synostosis patients (10.2 ± 0.9 mm). All patients tolerated surgery well, and there were no occurrences of sagittal sinus, transverse sinus, or torcular injury. The use of CAD/CAM technology allows for accurate intraoperative dural venous sinus localization during reconstructive surgery for craniosynostosis and

  13. Skull base development and craniosynostosis

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    Blaser, Susan I. [The Hospital for Sick Children and University of Toronto, Department of Diagnostic Imaging, Division of Neuroradiology, Toronto (Canada); University of Toronto, Department of Otolaryngology - Head and Neck Surgery, Toronto (Canada); Padfield, Nancy [The Hospital for Sick Children and University of Toronto, Department of Diagnostic Imaging, Division of Neuroradiology, Toronto (Canada); Chitayat, David [The Hospital for Sick Children and University of Toronto, Division of Clinical and Metabolic Genetics, Toronto (Canada); Mount Sinai Hospital and University of Toronto, Prenatal Diagnosis and Medical Genetics Program, Toronto (Canada); Forrest, Christopher R. [The Hospital for Sick Children and University of Toronto, Centre for Craniofacial Care and Research, Division of Plastic and Reconstructive Surgery, Toronto (Canada)

    2015-09-15

    Abnormal skull shape resulting in craniofacial deformity is a relatively common clinical finding, with deformity either positional (positional plagiocephaly) or related to premature ossification and fusion of the skull sutures (craniosynostosis). Growth restriction occurring at a stenosed suture is associated with exaggerated growth at the open sutures, resulting in fairly predictable craniofacial phenotypes in single-suture non-syndromic pathologies. Multi-suture syndromic subtypes are not so easy to understand without imaging. Imaging is performed to define the site and extent of craniosynostosis, to determine the presence or absence of underlying brain anomalies, and to evaluate both pre- and postoperative complications of craniosynostosis. Evidence for intracranial hypertension may be seen both pre- and postoperatively, associated with jugular foraminal stenosis, sinovenous occlusion, hydrocephalus and Chiari 1 malformations. Following clinical assessment, imaging evaluation may include radiographs, high-frequency US of the involved sutures, low-dose (20-30 mAs) CT with three-dimensional reformatted images, MRI and nuclear medicine brain imaging. Anomalous or vigorous collateral venous drainage may be mapped preoperatively with CT or MR venography or catheter angiography. (orig.)

  14. Cognitive Development of Children with Craniosynostosis

    OpenAIRE

    J Gordon Millichap

    2015-01-01

    Investigators from University of Washington, Seattle, WA; Harvard U, MA; St Louis, MO; Atlanta, GA; Northwestern U, and Shriner’s Hospital, Chicago, compared the development of school-aged children with single-suture craniosynostosis (sagittal, metopic, unicoronal, lambdoid) and unaffected children.

  15. Contemporary occurrence of hydrocephalus and Chiari I malformation in sagittal craniosynostosis. Case report and review of the literature.

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    Sgulò, Francesco Giovanni; Spennato, Pietro; Aliberti, Ferdinando; Di Martino, Giuliana; Cascone, Daniele; Cinalli, Giuseppe

    2017-01-01

    Chiari malformation type I (CM-I) and hydrocephalus are often associated with complex craniosynostosis. On the contrary, their simultaneous occurrence in monosutural synostosis is extremely rare. The pathophysiological hypothesis is that they may alter posterior fossa growth and lead to cerebellar tonsil herniation also without skull base primary involvement. Hydrocephalus is multifactorial and may be secondary to fourth ventricle outlet obstruction. The management of these cases is quite complex and not well defined. Cranial vault remodeling should be the only treatment when CM-I is asymptomatic and not related to syringomyelia. Suboccipital decompression should be reserved only in complicated CM-I, usually as a second surgical step following the correction of the supratentorial deformity. In our opinion, the associated hydrocephalus should be treated first in order to normalize intracranial hypertension before opening the cranial sutures. We report the case of a 26-month-old child that presented with sagittal craniosynostosis, hydrocephalus, and CM-I. He was managed by performing endoscopic third ventriculostomy (ETV) first and cranial vault remodeling thereafter. Clinico-radiological outcome was very satisfying. Concerning literature is reviewed; physiopathology and surgical management are discussed.

  16. A previously unreported variant of the synostotic sagittal suture: Case report and review of salient literature

    Directory of Open Access Journals (Sweden)

    Madison Budinich

    2016-12-01

    Full Text Available Introduction: Sagittal synostosis is a rare congenital disease caused by the premature fusion of the sagittal suture. Craniosynostosis occurs for a variety of reasons, different for every case, and often the etiology is unclear but the anomaly can frequently be seen as part of Crouzon's or Apert's syndromes. Herein, we discuss a rare case of craniosynostosis where the patient presented with a, to our knowledge, a previously undescribed variant of sagittal synostosis. Case report: A 3-month-old female infant presented to a craniofacial clinic for a consultation regarding an abnormal head shape. Images of the skull were performed, demonstrating that the patient had craniosynostosis. The patient displayed no other significant symptoms besides abnormalities in head shape. The sagittal suture was found to extend into the occipital bone where it was synostotic. Conclusion: To our knowledge, a synostotic sagittal suture has not been reported that extended posteriorly it involve the occipital bone. Those who interpret imaging or operate on this part of the skull should consider such a variation. Keywords: Anatomy, Craniosynostosis, Skull, Malformation, Pediatrics

  17. Strengthening molecular genetics and training in craniosynostosis: The need of the hour

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    Barik, Mayadhar; Bajpai, Minu; Panda, Shasanka Shekhar; Malhotra, Arun; Samantaray, Jyotish Chandra; Dwivedi, Sada Nanda

    2014-01-01

    Craniosynostosis (CS) is premature fusion of skull. It is divided into two groups: Syndromic craniosynostosis (SCS) and non-syndromic craniosynostosis (NSC). Its incidence in Indian population is 1:1000 live births where as in the USA it is 1:2500 live births. Its incidence varies from country to country. Molecular genetics having great interest and relevance in medical students, faculty, scientist, pediatric neurosurgeon and staff nurses, our objective was to educate the medical students, residents, researchers, clinicians, pediatric neurosurgeon, anesthetists, pediatricians, staff nurses and paramedics. We summarized here including with diagnosis, investigations, surgical therapy, induction therapy, and molecular therapy. Molecular genetics training is needed to know the information regarding development of skull, cranial connective tissue, craniofacial dysplasia, frame work, network of receptors and its etiopathogenesis. The important part is clinically with molecular therapy (MT) how to manage CS in rural sector and metropolitan cities need a special attention. PMID:25288859

  18. Strengthening molecular genetics and training in craniosynostosis: The need of the hour

    Directory of Open Access Journals (Sweden)

    Mayadhar Barik

    2014-01-01

    Full Text Available Craniosynostosis (CS is premature fusion of skull. It is divided into two groups: Syndromic craniosynostosis (SCS and non-syndromic craniosynostosis (NSC. Its incidence in Indian population is 1:1000 live births where as in the USA it is 1:2500 live births. Its incidence varies from country to country. Molecular genetics having great interest and relevance in medical students, faculty, scientist, pediatric neurosurgeon and staff nurses, our objective was to educate the medical students, residents, researchers, clinicians, pediatric neurosurgeon, anesthetists, pediatricians, staff nurses and paramedics. We summarized here including with diagnosis, investigations, surgical therapy, induction therapy, and molecular therapy. Molecular genetics training is needed to know the information regarding development of skull, cranial connective tissue, craniofacial dysplasia, frame work, network of receptors and its etiopathogenesis. The important part is clinically with molecular therapy (MT how to manage CS in rural sector and metropolitan cities need a special attention.

  19. Anthropometric outcome of sagittal craniosynostosis following surgery

    International Nuclear Information System (INIS)

    Takagi, Toshinori; Morota, Nobuhito; Ihara, Satoshi; Kaneko, Tsuyoshi

    2011-01-01

    Several studies have shown good short-term outcomes after surgery for sagittal synostosis. However, the improvement in head shape usually regresses over the long term. The aim of this study was to compare anthropometric changes after surgery between osteoplastic expansion surgery and distraction osteogenesis for correcting sagittal synostosis. From November 2002 through December 2008, 17 patients with sagittal synostosis were analyzed. Anthropometric changes were assessed with cephalic indices obtained with computed tomography of the skull. The age of the patients at the time of surgery ranged from 2 to 25 months (mean, 8.2 months), and the follow-up period ranged from 6 to 63 months (mean, 17 months). In 16 patients, the cephalic index showed improvement immediately after surgery but gradually decreased in the follow-up period. The improving rate was decreased more after osteoplastic expansion surgery than after distraction osteogenesis (p<0.01). Although long-term follow-up is necessary, morphological improvement persists to a greater degree after distraction surgery. (author)

  20. Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples

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    Marcella Zollino

    2017-10-01

    Full Text Available Craniosynostosis is a heterogeneous condition caused by the premature fusion of cranial sutures, occurring mostly as an isolated anomaly. Pathogenesis of non-syndromic forms of craniosynostosis is largely unknown. In about 15–30% of cases craniosynostosis occurs in association with other physical anomalies and it is referred to as syndromic craniosynostosis. Syndromic forms of craniosynostosis arise from mutations in genes belonging to the Fibroblast Growth Factor Receptor (FGFR family and the interconnected molecular pathways in most cases. However it can occur in association with other gene variants and with a variety of chromosome abnormalities as well, usually in association with intellectual disability (ID and additional physical anomalies. Evaluating the molecular properties of the genes undergoing intragenic mutations or copy number variations (CNVs along with prevalence of craniosynostosis in different conditions and animal models if available, we made an attempt to define two distinct groups of unusual syndromic craniosynostosis, which can reflect direct effects of emerging new candidate genes with roles in suture homeostasis or a non-specific phenotypic manifestation of pleiotropic genes, respectively. RASopathies and 9p23p22.3 deletions are reviewed as examples of conditions in the first group. In particular, we found that craniosynostosis is a relatively common component manifestation of cardio-facio-cutaneous (CFC syndrome. Chromatinopathies and neurocristopathies are presented as examples of conditions in the second group. We observed that craniosynostosis is uncommon on average in these conditions. It was randomly associated with Kabuki, Koolen-de Vries/KANSL1 haploinsufficiency and Mowat–Wilson syndromes and in KAT6B-related disorders. As an exception, trigonocephaly in Bohring-Opitz syndrome reflects specific molecular properties of the chromatin modifier ASXL1 gene. Surveillance for craniosynostosis in syndromic forms of

  1. A proposal for a new classification of complications in craniosynostosis surgery.

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    Shastin, Dmitri; Peacock, Sharron; Guruswamy, Velu; Kapetanstrataki, Melpo; Bonthron, David T; Bellew, Maggie; Long, Vernon; Carter, Lachlan; Smith, Ian; Goodden, John; Russell, John; Liddington, Mark; Chumas, Paul

    2017-06-01

    OBJECTIVE Complications have been used extensively to facilitate evaluation of craniosynostosis practice. However, description of complications tends to be nonstandardized, making comparison difficult. The authors propose a new pragmatic classification of complications that relies on prospective data collection, is geared to capture significant morbidity as well as any "near misses" in a systematic fashion, and can be used as a quality improvement tool. METHODS Data on complications for all patients undergoing surgery for nonsyndromic craniosynostosis between 2010 and 2015 were collected from a prospective craniofacial audit database maintained at the authors' institution. Information on comorbidities, details of surgery, and follow-up was extracted from medical records, anesthetic and operation charts, and electronic databases. Complications were defined as any unexpected event that resulted or could have resulted in a temporary or permanent damage to the child. RESULTS A total of 108 operations for the treatment of nonsyndromic craniosynostosis were performed in 103 patients during the 5-year study period. Complications were divided into 6 types: 0) perioperative occurrences; 1) inpatient complications; 2) outpatient complications not requiring readmission; 3) complications requiring readmission; 4) unexpected long-term deficit; and 5) mortality. These types were further subdivided according to the length of stay and time after discharge. The overall complication rate was found to be 35.9%. CONCLUSIONS The proportion of children with some sort of complication using the proposed definition was much higher than commonly reported, predominantly due to the inclusion of problems often dismissed as minor. The authors believe that these complications should be included in determining complication rates, as they will cause distress to families and may point to potential areas for improving a surgical service.

  2. The Role of Preoperative Imaging in the Management of Nonsyndromic Lambdoid Craniosynostosis.

    Science.gov (United States)

    Ranganathan, Kavitha; Rampazzo, Antonio; Hashmi, Asra; Muraszko, Karin; Strahle, Jennifer; Vercler, Christian J; Buchman, Steven R

    2018-01-01

    The necessity of imaging for patients with craniosynostosis is controversial. Lambdoid synostosis is known to be associated with additional anomalies, but the role of imaging in this setting has not been established. The purpose of this study was to evaluate the impact of preoperative imaging on intraoperative and postoperative management among patients undergoing operative intervention for lambdoid craniosynostosis. A retrospective review of patients undergoing cranial vault remodeling for lambdoid craniosynostosis between January 2006 and 2014 was conducted. Patient demographics, age at computed tomography scan, age at surgery, results of the radiologic evaluation, operative technique, and modification of the diagnosis following the radiologic studies were analyzed. A pediatric neuroradiology and the surgical team interpreted the radiographs. The primary outcome was change in intraoperative or postoperative management based on imaging results. A total of 11 patients were diagnosed with lambdoid synostosis. Of these patients, 81.8% had abnormalities on imaging relevant to operative planning. The most common anomalies were Chiari I malformation (45%) and venous anomalies of the posterior fossa (36%). Preoperative imaging altered the management of 9 (81.8%) patients. Closer follow-up was required for 6 patients (54%). Suboccipital decompression was performed in 4 patients (36%). Venous anomalies were found in 4 patients (36%). The diagnosis was changed from positional plagiocephaly to lambdoid synostosis in 2 patients (18%). Given the frequency and significance of radiographic abnormalities in the setting of lamboid synostosis, preoperative imaging should be considered during the operative planning phase as it can affect postoperative and intraoperative management.

  3. Craniosynostosis of coronal suture in Twist1+/- mice occurs through endochondral ossification recapitulating the physiological closure of posterior frontal suture

    Directory of Open Access Journals (Sweden)

    Bjorn eBehr

    2011-07-01

    Full Text Available Craniosynostosis, the premature closure of cranial suture, is a pathologic condition that affects 1/2000 live births. Saethre-Chotzen syndrome is a genetic condition characterized by craniosynostosis. The Saethre-Chotzen syndrome, which is defined by loss-of-function mutations in the TWIST gene, is the second most prevalent craniosynostosis. Although much of the genetics and phenotypes in craniosynostosis syndromes is understood, less is known about the underlying ossification mechanism during suture closure. We have previously demonstrated that physiological closure of the posterior frontal (PF suture occurs through endochondral ossification. Moreover, we revealed that antagonizing canonical Wnt signaling in the sagittal suture leads to endochondral ossification of the suture mesenchyme and sagittal synostosis, presumably by inhibiting Twist1. Classic Saethre-Chotzen syndrome is characterized by coronal synostosis, and the haploinsufficient Twist1+/- mice represents a suitable model for studying this syndrome. Thus, we seeked to understand the underlying ossification process in coronal craniosynostosis in Twist1+/- mice. Our data indicate that coronal suture closure in Twist1+/- mice occurs between postnatal day 9 to 13 by endochondral ossification, as shown by histology, gene expression analysis and immunohistochemistry. In conclusion, this study reveals that coronal craniosynostosis in Twist1+/- mice occurs through endochondral ossification. Moreover, it suggests that haploinsufficency of Twist1 gene, a target of canonical Wnt-signaling, and inhibitor of chondrogenesis, mimics conditions of inactive canonical Wnt-signaling leading to craniosynostosis.

  4. Fronto-Orbital Advancement and Total Calvarial Remodelling for Craniosynostosis

    International Nuclear Information System (INIS)

    Haq, E. U.; Aman, S.; Tammimy, M. S.; Ahmad, R. S.

    2014-01-01

    Objective: To describe the results of fronto-orbital advancement and remodelling for craniosynostosis in children. Study Design: Case series. Place and Duration of Study: Department of Plastic Surgery, Combined Military Hospital, Rawalpindi, from June 2009 to June 2012. Methodology: All the patients with cranial suture synostosis operated were included in the study. Those patients who were lost to follow-up were excluded. Variables considered were age, gender, type of synostosis, intracranial pressure, and history of previous surgeries for the same problem. Outcome measures were studied in terms of improvement of skull measurements (anteroposterior and bicoronal), duration of surgery, hospital stay, blood transfusions, complications and parents satisfaction. Results: A total of 36 patients were included in the study. Male to female ratio was 3:1. The age ranged from 5 to 54 months. Thirty two patients presented with non-syndromic and four with syndromic craniosynostosis. Fronto orbital advancement and total calvarial remodelling was done in 26 and 10 patients respectively. There was improvement in the skull measurements and the parents were satisfied in all cases with the skull shape. Complications occurred in 11.1% including chest and wound infection and one death. Conclusion: Fronto-orbital advancement and remodelling is an effective procedure for the correction of craniosynostosis, however, individual cases may require other procedures like total calvarial remodelling. (author)

  5. Hypophosphatemic rickets and craniosynostosis: a multicenter case series.

    Science.gov (United States)

    Vega, Rafael A; Opalak, Charles; Harshbarger, Raymond J; Fearon, Jeffrey A; Ritter, Ann M; Collins, John J; Rhodes, Jennifer L

    2016-06-01

    OBJECTIVE This study examines a series of patients with hypophosphatemic rickets and craniosynostosis to characterize the clinical course and associated craniofacial anomalies. METHODS A 20-year retrospective review identified patients with hypophosphatemic rickets and secondary craniosynostosis at 3 major craniofacial centers. Parameters examined included sex, age at diagnosis of head shape anomaly, affected sutures, etiology of rickets, presenting symptoms, number and type of surgical interventions, and associated diagnoses. A review of the literature was performed to optimize treatment recommendations. RESULTS Ten patients were identified (8 males, 2 females). Age at presentation ranged from 1 to 9 years. The most commonly affected suture was the sagittal (6/10 patients). Etiologies included antacid-induced rickets, autosomal dominant hypophosphatemic rickets, and X-linked hypophosphatemic (XLH) rickets. Nine patients had undergone at least 1 cranial vault remodeling (CVR) surgery. Three patients underwent subsequent surgeries in later years. Four patients underwent formal intracranial pressure (ICP) monitoring, 3 of which revealed elevated ICP. Three patients were diagnosed with a Chiari Type I malformation. CONCLUSIONS Secondary craniosynostosis develops postnatally due to metabolic or mechanical factors. The most common metabolic cause is hypophosphatemic rickets, which has a variety of etiologies. Head shape changes occur later and with a more heterogeneous presentation compared with that of primary craniosynostosis. CVR may be required to prevent or relieve elevated ICP and abnormalities of the cranial vault. Children with hypophosphatemic rickets who develop head shape abnormalities should be promptly referred to a craniofacial specialist.

  6. Open Craniosynostosis Surgery: Effect of Early Intraoperative Blood Transfusion on Postoperative Course.

    Science.gov (United States)

    Kurnik, Nicole M; Bristol, Ruth; Maneri, Celia; Singhal, Raj; Singh, Davinder J

    2017-07-01

    Correction of craniosynostosis can result in blood loss when the patient already has physiologic anemia. The aim of this study was to determine whether patients benefit from early blood transfusion and whether the timing of blood transfusion affects metabolic disturbances and the postoperative course. In this retrospective review, 71 patients who underwent open calvarial vault remodeling for correction of craniosynostosis were separated into 2 groups according to whether they received blood transfusions early (within the first 30 minutes of surgery) or later (after the first 30 minutes of surgery). Patients were further separated into nonsyndromic and syndromic cohorts. Tracked variables included hemoglobin, hematocrit, arterial blood gas values, lactate level, length of stay, estimated blood loss, and amount of blood transfused in the operating room, amount transfused postoperatively, and total amount transfused.Among all patients, the early transfusion group had a higher hemoglobin nadir overall and received less postoperative blood. Within the nonsyndromic cohort, the early transfusion group had a higher estimated blood loss and received more transfused blood. In the syndromic cohort, the early transfusion group had a hemoglobin nadir that was significantly higher than in the late transfusion group and a lower estimated blood loss, shorter pediatric intensive care unit stay, and less postoperative blood transfused. Syndromic patients also received significantly more blood overall. For syndromic patients undergoing open calvarial vault remodeling, transfusion within the first 30 minutes of surgery should be considered.

  7. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

    Science.gov (United States)

    Addissie, Yonit A; Kotecha, Udhaya; Hart, Rachel A; Martinez, Ariel F; Kruszka, Paul; Muenke, Maximilian

    2015-11-01

    Noonan syndrome (NS) is a multiple congenital anomaly syndrome caused by germline mutations in genes coding for components of the Ras-mitogen-activated protein kinase (RAS-MAPK) pathway. Features include short stature, characteristic facies, congenital heart anomalies, and developmental delay. While there is considerable clinical heterogeneity in NS, craniosynostosis is not a common feature of the condition. Here, we report on a 2 month-old girl with Noonan syndrome associated with a de novo mutation in KRAS (p.P34Q) and premature closure of the sagittal suture. We provide a review of the literature of germline KRAS mutations and find that approximately 10% of published cases have craniosynostosis. Our findings expand on the NS phenotype and suggest that germline mutations in the KRAS gene are causally involved in craniosynostosis, supporting the role of the RAS-MAPK pathway as a mediator of aberrant bone growth in cranial sutures. The inclusion of craniosynostosis as a possible phenotype in KRAS-associated Noonan Syndrome has implications in the differential diagnosis and surgical management of individuals with craniosynostosis. © 2015 Wiley Periodicals, Inc.

  8. Parameters of care for craniosynostosis

    DEFF Research Database (Denmark)

    McCarthy, Joseph G; Warren, Stephen M; Bernstein, Joseph

    2012-01-01

    A multidisciplinary meeting was held from March 4 to 6, 2010, in Atlanta, Georgia, entitled "Craniosynostosis: Developing Parameters for Diagnosis, Treatment, and Management." The goal of this meeting was to create parameters of care for individuals with craniosynostosis.......A multidisciplinary meeting was held from March 4 to 6, 2010, in Atlanta, Georgia, entitled "Craniosynostosis: Developing Parameters for Diagnosis, Treatment, and Management." The goal of this meeting was to create parameters of care for individuals with craniosynostosis....

  9. Achondroplasia and multiple-suture craniosynostosis.

    Science.gov (United States)

    Albino, Frank P; Wood, Benjamin C; Oluigbo, Chima O; Lee, Angela C; Oh, Albert K; Rogers, Gary F

    2015-01-01

    Genetic mutations in the fibroblast growth factor receptor 3 gene may lead to achondroplasia or syndromic forms of craniosynostosis. Despite sharing a common genetic basis, craniosynostosis has rarely been described in cases of confirmed achondroplasia. We report an infant with achondroplasia who developed progressive multiple-suture craniosynostosis to discuss the genetic link between these clinical entities and to describe the technical challenges associated with the operative management.

  10. Craniosynostosis: current conceptions and misconceptions

    Directory of Open Access Journals (Sweden)

    Cristiane Sá Roriz Fonteles

    2016-04-01

    Full Text Available Cranial bones articulate in areas called sutures that must remain patent until skull growth is complete. Craniosynostosis is the condition that results from premature closure of one or more of the cranial vault sutures, generating facial deformities and more importantly, skull growth restrictions with the ability to severely affect brain growth. Typically, craniosynostosis can be expressed as an isolated event, or as part of syndromic phenotypes. Multiple signaling mechanisms interact during developmental stages to ensure proper and timely suture fusion. Clinical outcome is often a product of craniosynostosis subtypes, number of affected sutures and timing of premature suture fusion. The present work aimed to review the different aspects involved in the establishment of craniosynostosis, providing a close view of the cellular, molecular and genetic background of these malformations.

  11. Is Postoperative Intensive Care Unit Care Necessary following Cranial Vault Remodeling for Sagittal Synostosis?

    Science.gov (United States)

    Wolfswinkel, Erik M; Howell, Lori K; Fahradyan, Artur; Azadgoli, Beina; McComb, J Gordon; Urata, Mark M

    2017-12-01

    Of U.S. craniofacial and neurosurgeons, 94 percent routinely admit patients to the intensive care unit following cranial vault remodeling for correction of sagittal synostosis. This study aims to examine the outcomes and cost of direct ward admission following primary cranial vault remodeling for sagittal synostosis. An institutional review board-approved retrospective review was undertaken of the records of all patients who underwent primary cranial vault remodeling for isolated sagittal craniosynostosis from 2009 to 2015 at a single pediatric hospital. Patient demographics, perioperative course, and outcomes were recorded. One hundred ten patients met inclusion criteria with absence of other major medical problems. Average age at operation was 6.7 months, with a mean follow-up of 19.8 months. Ninety-eight patients (89 percent) were admitted to a general ward for postoperative care, whereas the remaining 12 (11 percent) were admitted to the intensive care unit for preoperative or perioperative concerns. Among ward-admitted patients, there were four (3.6 percent) minor complications; however, there were no major adverse events, with none necessitating intensive care unit transfers from the ward and no mortalities. Average hospital stay was 3.7 days. The institution's financial difference in cost of intensive care unit stay versus ward bed was $5520 on average per bed per day. Omitting just one intensive care unit postoperative day stay for this patient cohort would reduce projected health care costs by a total of $540,960 for the study period. Despite the common practice of postoperative admission to the intensive care unit following cranial vault remodeling for sagittal craniosynostosis, the authors suggest that postoperative care be considered on an individual basis, with only a small percentage requiring a higher level of care. Therapeutic, III.

  12. Molecular genetics of craniosynostosis

    Science.gov (United States)

    Caterine; Auerkari, Elza Ibrahim

    2018-03-01

    Tight regulation process and complex interplay occur along the osteogenic interfaces of the cranial sutures in normal growth and development of the skull. Cranial sutures serve as sites of bone growth while maintaining a state of patency to accommodate the developing brain. Cranial sutures are fibro-cellular structures that separate the rigid plates of the skull bones. Premature fusion of one or more cranial sutures leads to a condition known as craniosynostosis. Craniosynostosis is one of the most common craniofacial anomalies with a prevalence of 1 in 2,500 newborns. Several genes have been identified in the pathogenesis of craniosynostosis. Molecular signaling events and the intracellular signal transduction pathways implicated in the suture pathobiology will provide a useful approach for therapeutic targeting.

  13. Unilateral frontosphenoidal craniosynostosis with achondroplasia: a case report.

    Science.gov (United States)

    Hubbard, Bradley A; Gorski, Jerome L; Muzaffar, Arshad R

    2011-09-01

    Isolated, premature fusion of the frontosphenoidal suture is rare. This report describes an unusual combination of frontosphenoidal craniosynostosis and achondroplasia. Although craniosynostosis is known to occur in allelic conditions such as thanatophoric dysplasia, craniosynostosis in individuals with achondroplasia is exceedingly rare. Due to the distracting diagnosis of achondroplasia or inadequate knowledge of craniosynostosis, the abnormal head shape was initially treated by other physicians with helmet molding. Plastic surgery consultation was obtained at 2 years of age and surgical care was provided. An acceptable head shape was obtained, but the delay in appropriate evaluation was disconcerting. To our knowledge this is the first reported case of isolated frontosphenoidal craniosynostosis associated with achondroplasia.

  14. Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient.

    Science.gov (United States)

    Barik, Mayadhar; Bajpai, Minu; Malhotra, Arun; Samantaray, Jyotish Chandra; Dwivedi, Sadananda; Das, Sambhunath

    2015-01-01

    Craniosynostosis (CS) syndrome is an autosomal dominant condition classically combining craniosynostosis and non-syndromic craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FGFR2, whilst a larger number of cases can be attributed to mutations outside this region of the protein. To find out the FGFR1, FGFR2, FGFR3 and FGFR4 gene in craniosynostosis syndrome. A hospital based prospective study. Prospective analysis of clinical records of patients registered in CS clinic from December 2007 to January 2015 was done in patients between 4 months to 13 years of age. We have performed genetic findings in a three generation Indian family with Craniosynostosis syndrome. We report for the first time the clinical and genetic findings in a three generation Indian family with Craniosynostosis syndrome caused by a heterozygous missense mutation, Thr 392 Thr and ser 311 try, located in the IgII domain of FGFR2. FGFR 3 and 4 gene basis syndrome was eponymously named. Genetic analysis demonstrated that 51/56 families to be unrelated. In FGFR3 gene 10/TM location of 1172 the nucleotide changes C>A, Ala 391 Glu 19/56 and Exon-19, 5q35.2 at conserved linker region the changes occurred pro 246 Arg in 25/56 families. Independent genetic origins, but phenotypic similarities in the 51 families add to the evidence supporting the theory of selfish spermatogonial selective advantage for this rare gain-of-function FGFR2 mutation.

  15. Effectiveness of ultrasonographic evaluation of the cranial sutures in children with suspected craniosynostosis

    International Nuclear Information System (INIS)

    Simanovsky, Natalia; Hiller, Nurith; Koplewitz, Benjamin; Rozovsky, Katya

    2009-01-01

    Computed tomography (CT) is the 'gold standard' for evaluation of the cranial sutures. While prenatal cranial suture evaluation with ultrasound (US) is common, US has not been established as a postnatal screening tool. We evaluated the effectiveness of US for diagnosis of craniosynostosis (CS). During 2006, 24 infants with questionable CS were assessed with US of the sagittal, metopic, and bilateral coronal and lambdoid sutures. US findings and clinical records were reviewed retrospectively. Sixteen boys and eight girls (ages 1-11 months, mean 4.3) underwent US. The correct diagnosis was provided in 23 (95%), with equivocal findings in one patient. Cranial sutures appeared normal in 15 infants, who had normal clinical presentation at mean 5.8 months follow-up; CT confirmation was obtained in two. In eight children, US identified premature closure of one or more cranial sutures. Three-dimensional CT was performed as a preparation for surgery in four, with classical CS findings. In one case with inconclusive US findings, CT showed narrow but open sutures. Sonographic examination of cranial sutures may serve as a first imaging tool for evaluation of craniosynostosis. CT may be reserved for children with abnormal or equivocal ultrasound and for preoperative planning. (orig.)

  16. Effectiveness of ultrasonographic evaluation of the cranial sutures in children with suspected craniosynostosis

    Energy Technology Data Exchange (ETDEWEB)

    Simanovsky, Natalia; Hiller, Nurith; Koplewitz, Benjamin; Rozovsky, Katya [Hadassah Hebrew University Medical Center, Department of Medical Imaging, Mount, Scopus, P.O. Box 24035, Jerusalem (Israel)

    2009-03-15

    Computed tomography (CT) is the 'gold standard' for evaluation of the cranial sutures. While prenatal cranial suture evaluation with ultrasound (US) is common, US has not been established as a postnatal screening tool. We evaluated the effectiveness of US for diagnosis of craniosynostosis (CS). During 2006, 24 infants with questionable CS were assessed with US of the sagittal, metopic, and bilateral coronal and lambdoid sutures. US findings and clinical records were reviewed retrospectively. Sixteen boys and eight girls (ages 1-11 months, mean 4.3) underwent US. The correct diagnosis was provided in 23 (95%), with equivocal findings in one patient. Cranial sutures appeared normal in 15 infants, who had normal clinical presentation at mean 5.8 months follow-up; CT confirmation was obtained in two. In eight children, US identified premature closure of one or more cranial sutures. Three-dimensional CT was performed as a preparation for surgery in four, with classical CS findings. In one case with inconclusive US findings, CT showed narrow but open sutures. Sonographic examination of cranial sutures may serve as a first imaging tool for evaluation of craniosynostosis. CT may be reserved for children with abnormal or equivocal ultrasound and for preoperative planning. (orig.)

  17. Postoperative follow-up study of craniosynostosis using three-dimensional surface reconstruction CT (3D-CT)

    Energy Technology Data Exchange (ETDEWEB)

    Nishimoto, Hiroshi; Tsukiyama, Takashi; Nishimura, Jiro; Fujioka, Mutsuhisa; Tsubokawa, Takashi.

    1988-12-01

    In 1983, Michael W. Vannier and Jeffrey L. Marsh developed a computer method that reconstructs three-dimensional images from high-resolution CT-scan series of the facial skeleton. This method has been applied to craniofacial anomalies, basal encephalocele, and other skeletal pathologies. In this study, the postoperative assessment of craniofacial surgical results has been accomplished using 3D-CT techniques in craniosynostosis. The results are as follows: (1) Postoperative 3D-CTs reveal the bony anatomical details corrected by the craniofacial surgery more precisely and more stereographically than do conventional radiological techniques. (2) Secondary changes in the cranium after the surgery, such as reossification at the area of osteotomies or postoperative asymmetric skull deformities, are more early detected by the 3D-CT imaging technique than by a craniogram. (3) In 3D-CT images, internal views of the skull, such mid-sagittal, rear internal, or top axial views of the intracranial skull base, are most useful in postoperative assessments of the surgical results and of postoperative secondary changes in the cranium. Based on our experience, we expect that 3D-CT imaging techniques will become more important in the management of craniosynostosis.

  18. Postoperative follow-up study of craniosynostosis using three-dimensional surface reconstruction CT (3D-CT)

    International Nuclear Information System (INIS)

    Nishimoto, Hiroshi; Tsukiyama, Takashi; Nishimura, Jiro; Fujioka, Mutsuhisa; Tsubokawa, Takashi.

    1988-01-01

    In 1983, Michael W. Vannier and Jeffrey L. Marsh developed a computer method that reconstructs three-dimensional images from high-resolution CT-scan series of the facial skeleton. This method has been applied to craniofacial anomalies, basal encephalocele, and other skeletal pathologies. In this study, the postoperative assessment of craniofacial surgical results has been accomplished using 3D-CT techniques in craniosynostosis. The results are as follows: 1) Postoperative 3D-CTs reveal the bony anatomical details corrected by the craniofacial surgery more precisely and more stereographically than do conventional radiological techniques. 2) Secondary changes in the cranium after the surgery, such as reossification at the area of osteotomies or postoperative asymmetric skull deformities, are more early detected by the 3D-CT imaging technique than by a craniogram. 3) In 3D-CT images, internal views of the skull, such mid-sagittal, rear internal, or top axial views of the intracranial skull base, are most useful in postoperative assessments of the surgical results and of postoperative secondary changes in the cranium. Based on our experience, we expect that 3D-CT imaging techniques will become more important in the management of craniosynostosis. (author)

  19. Volumetric lipoinjection of the fronto-orbital and temporal complex with adipose stem cells for the aesthetic restoration of sequelae of craniosynostosis

    Directory of Open Access Journals (Sweden)

    Yanko Castro-Govea

    2018-03-01

    Full Text Available Background Non-syndromic craniosynostosis causes craniofacial asymmetry and may persist after cranioplasty. These postoperative asymmetries are primarily depressions. In some cases, patients may be subjected to pranks and harassment by their peers, affecting their psychosocial development. We propose lipoinjection enriched with adipose stem cells (ASCs to treat the sequelae of craniosynostosis in the fronto-orbital and temporal complex in cranioplasty patients, with the goal of improving the appearance of the upper third of the face. Methods Twelve children (four boys and eight girls between 4 and 8 years of age (mean age, 6 years in the postoperative period after treatment for plagiocephaly, brachycephaly, and trigonocephaly were included, with a follow-up period of 1 to 18 months. Fat tissue was obtained from the lower abdomen, and ASCs were isolated using the Yoshimura technique. Lipoinjection was performed using several mini-approaches to ensure adequate distribution. Results Two different scales were used to evaluate the aesthetic outcomes. At 6 months, three plastic surgeons independent of the study classified the results using a Likert scale. The patients’ parents categorized the results using a visual analog scale at 6, 9, and 18 months. R esults were favorable on both scales, as the patients’ facial appearance improved and they reported increased happiness and self-esteem due to their remodeled facial appearance. Conclusions We suggest that lipoinjection enriched with ASCs is a good alternative for correcting asymmetry of the fronto-orbital and temporal contour in patients with sequelae of craniosynostosis. This treatment will help boost patients’ self-esteem starting at an early age.

  20. Craniosynostosis-Revisited

    Directory of Open Access Journals (Sweden)

    Sunanda Bhatnagar

    2007-01-01

    Full Text Available We all take special care when holding a tiny baby. This is partly because we know that "babies" head is particularly vulnerable, as it is still ′soft′ and the protective skull is yet forming. Skull growth continues until late adolescence and its proper functioning is crucial. Craniosynostosis, an inherited genetic condition, is characterized by the premature closure of sutures of the skull with effects that are wide - ranging and potentially devastating. Normally sutures and fontanelles allow the bones of the cranial vault to overlap during birth thus acting as an expansion joint, enabling the bone to enlarge evenly as the brain grows resulting in a symmetrically shaped skull. However, craniosynostosis occurs due to mutation in Homeobox gene - MSX2 and ALX4 or Fibroblast growth factor receptors (FGFR 1,2,3 gene, thus explaining for its association with Apert, Crouzon, Chotzen, Pteiffers and carpenter syndromes.

  1. Autosomal dominant craniosynostosis of the sutura metopica

    NARCIS (Netherlands)

    Hennekam, R. C.; van den Boogaard, M. J.

    1990-01-01

    Trigonocephaly due to craniosynostosis of the sutura metopica was found in two sibs with normal intelligence. Both were microcephalic. The father had a sloping forehead and possibly partial metopic craniosynostosis. The paternal grandfather had a bony ridge at the upper half of the metopic suture

  2. Brain and ventricular volume in patients with syndromic and complex craniosynostosis

    NARCIS (Netherlands)

    T. de Jong (Tim); B.F.M. Rijken (Bianca); M. Leguin (Maarten); M.L.C. van Veelen-Vincent (Marie-Lise); I.M.J. Mathijssen (Irene)

    2012-01-01

    textabstractPurpose: Brain abnormalities in patients with syndromic craniosynostosis can either be a direct result of the genetic defect or develop secondary to compression due to craniosynostosis, raised ICP or hydrocephalus. Today it is unknown whether children with syndromic craniosynostosis have

  3. 3D-Printed Craniosynostosis Model: New Simulation Surgical Tool.

    Science.gov (United States)

    Ghizoni, Enrico; de Souza, João Paulo Sant Ana Santos; Raposo-Amaral, Cassio Eduardo; Denadai, Rafael; de Aquino, Humberto Belém; Raposo-Amaral, Cesar Augusto; Joaquim, Andrei Fernandes; Tedeschi, Helder; Bernardes, Luís Fernando; Jardini, André Luiz

    2018-01-01

    Craniosynostosis is a complex disease once it involves deep anatomic perception, and a minor mistake during surgery can be fatal. The objective of this report is to present novel 3-dimensional-printed polyamide craniosynostosis models that can improve the understanding and treatment complex pathologies. The software InVesalius was used for segmentation of the anatomy image (from 3 patients between 6 and 9 months old). Afterward, the file was transferred to a 3-dimensional printing system and, with the use of an infrared laser, slices of powder PA 2200 were consecutively added to build a polyamide model of cranial bone. The 3 craniosynostosis models allowed fronto-orbital advancement, Pi procedure, and posterior distraction in the operating room environment. All aspects of the craniofacial anatomy could be shown on the models, as well as the most common craniosynostosis pathologic variations (sphenoid wing elevation, shallow orbits, jugular foramen stenosis). Another advantage of our model is its low cost, about 100 U.S. dollars or even less when several models are produced. Simulation is becoming an essential part of medical education for surgical training and for improving surgical safety with adequate planning. This new polyamide craniosynostosis model allowed the surgeons to have realistic tactile feedback on manipulating a child's bone and permitted execution of the main procedures for anatomic correction. It is a low-cost model. Therefore our model is an excellent option for training purposes and is potentially a new important tool to improve the quality of the management of patients with craniosynostosis. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis

    NARCIS (Netherlands)

    Maliepaard, M.; Mathijssen, I.M.J.; Oosterlaan, J.; Okkerse, J.M.E.

    2014-01-01

    OBJECTIVES: To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between diagnostic subgroups. METHODS: A national sample of children who have syndromic craniosynostosis participated in this study. Intellectual,

  5. Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis.

    Science.gov (United States)

    Maliepaard, Marianne; Mathijssen, Irene M J; Oosterlaan, Jaap; Okkerse, Jolanda M E

    2014-06-01

    To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between diagnostic subgroups. A national sample of children who have syndromic craniosynostosis participated in this study. Intellectual, behavioral, and emotional outcomes were assessed by using standardized measures: Wechsler Intelligence Scale for Children, Third Edition, Child Behavior Checklist (CBCL)/6-18, Disruptive Behavior Disorder rating scale (DBD), and the National Institute of Mental Health Diagnostic Interview Schedule for Children. We included 82 children (39 boys) aged 6 to 13 years who have syndromic craniosynostosis. Mean Full-Scale IQ (FSIQ) was in the normal range (M = 96.6; SD = 21.6). However, children who have syndromic craniosynostosis had a 1.9 times higher risk for developing intellectual disability (FSIQ intellectual disability, internalizing, social, and attention problems. Higher levels of behavioral and emotional problems were related to lower levels of intellectual functioning.

  6. EARLY DIAGNOSIS OF CRANIOSYNOSTOSIS IN INFANTS AT PRIMARY HEALTH CARE

    Directory of Open Access Journals (Sweden)

    Skoric Jasmina

    2014-12-01

    Full Text Available Craniosynostosis or premature fusion of one or more cranial sutures in infants disturbs normal brain growth. This condition causes abnormal skull configuration, increased intracranial pressure, headache, strabismus, blurred vision, blindness, psychomotor retardation. The diagnosis of craniosynostosis is very simple. Pediatricians should routinely assess neurological status and measure head circumference and anterior fontanelle. When necessary, ultrasound of CNS, X-ray and cranial CT scan can be done. When it comes to this condition, early diagnosis and surgical intervention are of utmost importance. In this paper, we have presented a case on craniosynostosis in a female infant, discovered in the third month of life during systematic review that included measurement of head circumference, palpation of anterior fontanelle and cranial sutures. The child was referred to a neurosurgeon who performed the CT scan of endocranium and confirmed the initial diagnosis of craniosynostosis. With head circumference of 40 cm and fused anterior fontanelle, the surgery was timely performed at the sixth month of life due to early diagnosis.

  7. Early diagnosis of craniosynostosis in infants at primary health care

    Directory of Open Access Journals (Sweden)

    Skoric Jasmina

    2014-12-01

    Full Text Available Craniosynostosis or premature fusion of one or more cranial sutures in infants disturbs normal brain growth. This condition causes abnormal skull configuration, increased intracranial pressure, headache, strabismus, blurred vision, blindness, psychomotor retardation. The diagnosis of craniosynostosis is very simple. Pediatricians should routinely assess neurological status and measure head circumference and anterior fontanelle. When necessary, ultrasound of CNS, X-ray and cranial CT scan can be done. When it comes to this condition, early diagnosis and surgical intervention are of utmost importance. In this paper, we have presented a case on craniosynostosis in a female infant, discovered in the third month of life during systematic review that included measurement of head circumference, palpation of anterior fontanelle and cranial sutures. The child was referred to a neurosurgeon who performed the CT scan of endocranium and confirmed the initial diagnosis of craniosynostosis. With head circumference of 40 cm and fused anterior fontanelle, the surgery was timely performed at the sixth month of life due to early diagnosis.

  8. Parameters of care for craniosynostosis

    DEFF Research Database (Denmark)

    Vargervik, Karin; Rubin, Marcie S; Grayson, Barry H

    2012-01-01

    A multidisciplinary conference was convened in March 2010 with the charge to develop parameters of care for patients with craniosynostosis. The 52 participants represented 16 medical specialties and 16 professional societies. Herein, we present the dental, orthodontic, and surgical care...

  9. Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

    Science.gov (United States)

    Accogli, Andrea; Pacetti, Mattia; Fiaschi, Pietro; Pavanello, Marco; Piatelli, Gianluca; Nuzzi, Daniele; Baldi, Maurizia; Tassano, Elisa; Severino, Maria Savina; Allegri, Anna; Capra, Valeria

    2015-03-01

    We report on two patients with an unusual combination of achondroplasia and surgically treated sagittal synostosis and scaphocephaly. The most common achondroplasia mutation, p.Gly380Arg in fibroblast growth factor receptor 3 (FGFR3), was detected in both patients. Molecular genetic testing of FGFR1, FGFR2, FGFR3 and TWIST1 genes failed to detect any additional mutations. There are several reports of achondroplasia with associated craniosynostosis, but no other cases of scaphocephaly in children with achondroplasia have been described. Recently it has been demonstrated that FGFR3 mutations affect not only endochondral ossification but also membranous ossification, providing new explanations for the craniofacial hallmarks in achondroplasia. Our report suggests that the association of isolated scaphocephaly and other craniosynostoses with achondroplasia may be under recognized. © 2015 Wiley Periodicals, Inc.

  10. Perinatal complications in patients with unisutural craniosynostosis: An international multicentre retrospective cohort study

    NARCIS (Netherlands)

    Cornelissen, Martijn J.; Softeland, Madiha; Apon, Inge; Ladfors, Lars; Mathijssen, Irene M. J.; Cohen-Overbeek, Titia E.; Bonsel, Gouke J.; Kolby, Lars

    2017-01-01

    Purpose Craniosynostosis may lead to hampered fetal head molding and birth complications. To study the interaction between single suture craniosynostosis and delivery complications, an international, multicentre, retrospective cohort study was performed. Materials and methods All infants born

  11. Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

    DEFF Research Database (Denmark)

    Nieminen, Pekka; Morgan, Neil V; Fenwick, Aimée L

    2011-01-01

    Craniosynostosis and supernumerary teeth most often occur as isolated developmental anomalies, but they are also separately manifested in several malformation syndromes. Here, we describe a human syndrome featuring craniosynostosis, maxillary hypoplasia, delayed tooth eruption, and supernumerary...... teeth. We performed homozygosity mapping in three unrelated consanguineous Pakistani families and localized the syndrome to a region in chromosome 9. Mutational analysis of candidate genes in the region revealed that all affected children harbored homozygous missense mutations (c.662C>G [p.Pro221Arg], c...... for the treatment of craniosynostosis....

  12. Genetics Home Reference: CATSPER1-related nonsyndromic male infertility

    Science.gov (United States)

    ... related nonsyndromic male infertility CATSPER1-related nonsyndromic male infertility Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description CATSPER1 -related nonsyndromic male infertility is a condition that affects the function of ...

  13. The effects of tissue-non-specific alkaline phosphatase gene therapy on craniosynostosis and craniofacial morphology in the FGFR2C342Y/+ mouse model of Crouzon craniosynostosis.

    Science.gov (United States)

    Wang, E; Nam, H K; Liu, J; Hatch, N E

    2015-04-01

    Craniosynostosis, the premature fusion of cranial bones, has traditionally been described as a disease of increased bone mineralization. However, multiple mouse models of craniosynostosis display craniosynostosis simultaneously with diminished cranial bone volume and/or density. We propose an alternative hypothesis that craniosynostosis results from abnormal tissue mineralization through the downregulation of tissue-non-specific alkaline phosphatase (TNAP) enzyme downstream of activating mutations in FGFRs. Neonatal Crouzon (FGFRC342Y/+) and wild-type (FGFR+/+) mice were injected with lentivirus to deliver a recombinant form of TNAP. Mice were sacrificed at 4 weeks postnatal. Serum was collected to test for alkaline phosphatase (AP), phosphorus, and calcium levels. Craniofacial bone fusion and morphology were assessed by micro-computed tomography. Injection with the TNAP lentivirus significantly increased serum AP levels (increased serum AP levels are indicative of efficient transduction and production of the recombinant protein), but results were variable and dependent upon viral lot and the litter of mice injected. Morphological analysis revealed craniofacial form differences for inferior surface (p=0.023) and cranial height (p=0.014) regions between TNAP lentivirus-injected and vehicle-injected Crouzon mice. With each unit increase in AP level, the odds of lambdoid suture fusion decreased by 84.2% and these results came close to statistical significance (p=0.068). These results suggest that TNAP deficiency may mediate FGFR2-associated craniosynostosis. Future studies should incorporate injection of recombinant TNAP protein, to avoid potential side effects and variable efficacy of lentiviral gene delivery. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  14. Syndromic craniosynostosis: sleeping with the enemy

    NARCIS (Netherlands)

    C. Driessen (Caroline)

    2013-01-01

    textabstractCraniosynostosis refers to the premature fusion of one or several calvarian sutures. For transient skull distortion during birth, as well as to facilitate growth of the brain, the seven bones of the calvarian are separated by six major calvarian sutures (Figure 1). The sutures function

  15. Role of 99mTc-ECD SPECT in the Management of Children with Craniosynostosis

    Science.gov (United States)

    Barik, Mayadhar; Bajpai, Minu; Das, Rashmi Ranajn; Malhotra, Arun; Panda, Shasanka Shekhar; Sahoo, Manas Kumar; Dwivedi, Sadanand

    2014-01-01

    Purpose of the Report. There is a paucity of data on correlation of various imaging modalities with clinical findings in craniosynostosis. Moreover, no study has specifically reported the role of 99mTc-ECD SPECT in a large number of subjects with craniosynostosis. Materials and Methods. We prospectively analyzed a cohort of 85 patients with craniosynostosis from year 2007 to 2012. All patients underwent evaluation with 99mTc-ECD SPECT and the results were correlated with radiological and surgical findings. Results. 99mTc-ECD SPECT revealed regional perfusion abnormalities in the cerebral hemisphere corresponding to the fused sutures preoperatively that disappeared postoperatively in all the cases. Corresponding to this, the mean mental performance quotient (MPQ) increased significantly (P < 0.05) postoperatively only in those children with absent perfusion defect postoperatively. Conclusions. Our study suggests that early surgery and release of craniosynostosis in patients with preoperative perfusion defects (absent on 99mTc-ECD SPECT study) are beneficial, as theylead to improved MPQ after surgery. PMID:24987670

  16. Role of 99mTc-ECD SPECT in the Management of Children with Craniosynostosis

    Directory of Open Access Journals (Sweden)

    Mayadhar Barik

    2014-01-01

    Full Text Available Purpose of the Report. There is a paucity of data on correlation of various imaging modalities with clinical findings in craniosynostosis. Moreover, no study has specifically reported the role of Tc99m-ECD SPECT in a large number of subjects with craniosynostosis. Materials and Methods. We prospectively analyzed a cohort of 85 patients with craniosynostosis from year 2007 to 2012. All patients underwent evaluation with Tc99m-ECD SPECT and the results were correlated with radiological and surgical findings. Results. Tc99m-ECD SPECT revealed regional perfusion abnormalities in the cerebral hemisphere corresponding to the fused sutures preoperatively that disappeared postoperatively in all the cases. Corresponding to this, the mean mental performance quotient (MPQ increased significantly P<0.05 postoperatively only in those children with absent perfusion defect postoperatively. Conclusions. Our study suggests that early surgery and release of craniosynostosis in patients with preoperative perfusion defects (absent on Tc99m-ECD SPECT study are beneficial, as theylead to improved MPQ after surgery.

  17. Use of Multidirectional Cranial Distraction Osteogenesis for Cranial Expansion in Syndromic Craniosynostosis

    Directory of Open Access Journals (Sweden)

    Ataru Sunaga, MD

    2017-12-01

    Full Text Available Summary:. Patients with syndromic craniosynostosis often require a large amount of cranial expansion to avoid intracranial hypertension, but the surgical procedure remains controversial. A patient of severe syndromic craniosynostosis with multiple bony defects and anomalous venous drainage at the occipital region was treated by multidirectional cranial distraction osteogenesis (MCDO at the age of 8 months. Distraction started 5 days after surgery and ceased on postoperative day 16. The distraction devices were removed 27 days after completing distraction. After device removal, the increase of intracranial volume was 155 ml and the cephalic index was improved from 115.5 to 100.5. The resultant cranial shape was well maintained with minimal relapse at postoperative 9 months. In cases of syndromic craniosynostosis with multiple bony defects and/or anomalous venous drainage at the occipital region, expansion of the anterior cranium by MCDO is a viable alternative to conventional methods.

  18. IRF6 mutation screening in non-syndromic orofacial clefting

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Koboldt, Daniel C; Kang, C. J.

    2016-01-01

    -syndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs. Screening for IRF6 mutations in apparently non-syndromic cases has been performed in several modestly sized cohorts with mixed results. In this study, we screened 1521 trios with presumed non......-syndromic OFCs to determine the frequency of causal IRF6 mutations. We identified seven likely causal IRF6 mutations, although a posteriori review identified two misdiagnosed VWS families based on the presence of lip pits. We found no evidence for association between rare IRF6 polymorphisms and non......-syndromic OFCs. We combined our results with other similar studies (totaling 2472 families) and conclude that causal IRF6 mutations are found in 0.24–0.44% of apparently non-syndromic OFC families. We suggest that clinical mutation screening for IRF6 be considered for certain family patterns such as families...

  19. Is Celiac Disease an Etiological Factor in Children with Nonsyndromic Intellectual Disability?

    Science.gov (United States)

    Sezer, Taner; Balcı, Oya; Özçay, Figen; Bayraktar, Nilufer; Alehan, Füsun

    2016-03-01

    To determine the prevalence of celiac disease in children and adolescents with nonsyndromic intellectual disability, we investigated serum levels of tissue transglutaminase antibody and total IgA from 232 children with nonsyndromic intellectual disability and in a healthy control group of 239 children. Study participants who were positive for tissue transglutaminase antibody underwent a duodenal biopsy. A total of 3 patients in the nonsyndromic intellectual disability group (5.45%) and 1 in the control group (0.41%) had positive serum tissue transglutaminase antibody (P > .05). Duodenal biopsy confirmed celiac disease in only 1 patient who had nonsyndromic intellectual disability. In this present study, children with nonsyndromic intellectual disability did not exhibit a higher celiac disease prevalence rate compared with healthy controls. Therefore, we suggest that screening test for celiac disease should not be necessary as a part of the management of mild and moderate nonsyndromic intellectual disability. However, cases of severe nonsyndromic intellectual disability could be examined for celiac disease. © The Author(s) 2015.

  20. Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Rubio, Eva I.; Blask, Anna; Bulas, Dorothy I. [Children' s National Health System, Department of Radiology, Washington, DC (United States)

    2016-05-15

    Craniosynostosis syndromes are uncommonly encountered in the prenatal period. Identification is challenging but important for family counseling and perinatal management. This series examines prenatal findings in craniosynostosis syndromes, comparing the complementary roles of US and MRI and emphasizing clues easily missed in the second trimester. Six prenatal cases evaluated from 2002 through 2011 were retrospectively reviewed. Referral history, gestational age, and sonographic and MRI findings were reviewed by three pediatric radiologists. Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities. The diagnosis was Apert syndrome in three, Pfeiffer syndrome in two and Carpenter syndrome in one. The gestational age at evaluation ranged from 21 to 33 weeks. All six were evaluated by MRI and US, with two undergoing repeat evaluation in the third trimester, yielding a total of eight MRIs and US exams. The referral history suggested cloverleaf skull in two cases but did not suggest craniosynostosis syndrome in any case. In four, the referral suggested central nervous system (CNS) findings that were not confirmed by MRI; additional CNS findings were discovered in the remaining two. In four cases, developing turricephaly resulted in a characteristic ''lampshade'' contour of the fetal head. Hypertelorism and proptosis were present in five, with proptosis better appreciated by MRI. Digit abnormalities were present in all, seen equally well by MRI and US. Lung abnormalities in the second trimester in one fetus resolved by the third trimester. Prenatal diagnosis of craniosynostosis syndromes is difficult prior to the third trimester. MRI and US have complementary roles in evaluation of these patients. (orig.)

  1. Craniosynostosis incision: scalpel or cautery?

    Science.gov (United States)

    Wood, Jeyhan S; Kittinger, Benjamin J; Perry, Victor L; Adenola, Adeyemi; van Aalst, John A

    2014-07-01

    There is an ongoing debate regarding the optimal instrument for scalp incisions: the scalpel or electrocautery. The argument generally focuses on improved healing after an incision made with a knife and decreased bleeding when using electrocautery. This study compares the use of scalpel and electrocautery in making coronal incisions for patients undergoing surgical correction of craniosynostosis. The outcome metric used is wound healing within 6 months after surgery. All patients presenting to the University of North Carolina Children's Hospital with craniosynostosis between July 1, 2007 and January 1, 2010 requiring a coronal incision for surgical correction were prospectively enrolled. In all of these patients, half of the coronal incision was made with knife; the other half, with needle tip cautery. Side of the incision was specified at the time of surgery in the operative report. Patients were excluded from the study if the instrument for incision was not specified or if only 1 modality was used for the entire incision. Sixty-eight patients underwent cranial vault reconstruction, of which 58 met inclusion criteria. Of the 58 matched pairs, 55 were analyzed statistically. The 3 excluded cases were those who had midline complications. There were 17 wound complications (15%): 8 in the knife group, 6 in the cautery group, and 3 at midline (with indeterminate side for the problem). We found no statistically significant difference in wound healing between incisions made with a knife or with electrocautery.

  2. The morphogenesis of wormian bones: a study of craniosynostosis and purposeful cranial deformation.

    Science.gov (United States)

    Sanchez-Lara, Pedro A; Graham, John M; Hing, Anne V; Lee, John; Cunningham, Michael

    2007-12-15

    Wormian bones are accessory bones that occur within cranial suture and fontanelles, most commonly within the posterior sutures. They occur more frequently in disorders that have reduced cranial ossification, hypotonia or decreased movement, thereby resulting in deformational brachycephaly. The frequency and location of wormian bones varies with the type and severity of cranial deformation practiced by ancient cultures. We considered the hypothesis that the pathogenesis of wormian bones may be due to environmental variations in dural strain within open sutures and fontanelles. In order to explore this further, we measured the cephalic index (CI) in 20 purposefully deformed pre-Columbian skulls: 10 from Chichen Itza, Mexico, and 10 from Ancon, Peru, as well as 20 anatomically normal skulls used for medical school anatomy classes. We tested for a direct correlation between the CI and the number of wormian bones in skulls with varying degrees of brachycephalic cranial deformation and found no significant correlation. When the CI was grouped into three categories (normal (CI 93)) there was a trend toward increasing number of wormian bones as the skull became more brachycephalic (P = 0.039). A second part or our study tabulated the frequency and location of large wormian bones (greater than 1 cm) in 3-dimentional computerized tomography (3D-CT) scans from 207 cases of craniosynostosis and compared these data with published data on 485 normal dry skulls from a manuscript on wormian bones by Parker in 1905. Among cases of craniosynostosis, large wormian bones were significantly more frequent (117 out of 207 3D-CT scans) than in dry skulls (131 out of 485). There was a 3.5 greater odds of developing a wormian bone with premature suture closure (P < 0.001). Midline synostosis, specifically metopic or sagittal synostosis, has more wormian bones in the midline, whereas unilateral lambdoidal or coronal synostosis more often had wormian bones on the contralateral side. Taken

  3. Genetics Home Reference: nonsyndromic holoprosencephaly

    Science.gov (United States)

    ... brain divides into two halves ( hemispheres ) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish ...

  4. Non-syndromic retinitis pigmentosa

    NARCIS (Netherlands)

    Verbakel, S.K. (Sanne K.); R.A.C. van Huet (Ramon A. C.); C.J.F. Boon (Camiel); A.I. Hollander (Anneke); R.W.J. Collin (Rob); C.C.W. Klaver (Caroline); C. Hoyng (Carel); R. Roepman (Ronald); B.J. Klevering (Jeroen)

    2018-01-01

    textabstractRetinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic,

  5. The earliest evidence of true lambdoid craniosynostosis: the case of "Benjamina", a Homo heidelbergensis child.

    Science.gov (United States)

    Gracia, Ana; Martínez-Lage, Juan F; Arsuaga, Juan-Luis; Martínez, Ignacio; Lorenzo, Carlos; Pérez-Espejo, Miguel-Angel

    2010-06-01

    The authors report the morphological and neuroimaging findings of an immature human fossil (Cranium 14) diagnosed with left lambdoid synostosis. The skull was recovered at the Sima de los Huesos site in Atapuerca (Burgos, Spain). Since the human fossil remains from this site have been dated to a minimum age of 530,000 years, this skull represents the earliest evidence of craniosynostosis occurring in a hominid. A brief historical review of craniosynostosis and cranial deformation is provided.

  6. Limiting CT radiation dose in children with craniosynostosis: phantom study using model-based iterative reconstruction

    Energy Technology Data Exchange (ETDEWEB)

    Kaasalainen, Touko; Lampinen, Anniina [University of Helsinki and Helsinki University Hospital, HUS Medical Imaging Center, Radiology, POB 340, Helsinki (Finland); University of Helsinki, Department of Physics, Helsinki (Finland); Palmu, Kirsi [University of Helsinki and Helsinki University Hospital, HUS Medical Imaging Center, Radiology, POB 340, Helsinki (Finland); School of Science, Aalto University, Department of Biomedical Engineering and Computational Science, Helsinki (Finland); Reijonen, Vappu; Kortesniemi, Mika [University of Helsinki and Helsinki University Hospital, HUS Medical Imaging Center, Radiology, POB 340, Helsinki (Finland); Leikola, Junnu [University of Helsinki and Helsinki University Hospital, Department of Plastic Surgery, Helsinki (Finland); Kivisaari, Riku [University of Helsinki and Helsinki University Hospital, Department of Neurosurgery, Helsinki (Finland)

    2015-09-15

    Medical professionals need to exercise particular caution when developing CT scanning protocols for children who require multiple CT studies, such as those with craniosynostosis. To evaluate the utility of ultra-low-dose CT protocols with model-based iterative reconstruction techniques for craniosynostosis imaging. We scanned two pediatric anthropomorphic phantoms with a 64-slice CT scanner using different low-dose protocols for craniosynostosis. We measured organ doses in the head region with metal-oxide-semiconductor field-effect transistor (MOSFET) dosimeters. Numerical simulations served to estimate organ and effective doses. We objectively and subjectively evaluated the quality of images produced by adaptive statistical iterative reconstruction (ASiR) 30%, ASiR 50% and Veo (all by GE Healthcare, Waukesha, WI). Image noise and contrast were determined for different tissues. Mean organ dose with the newborn phantom was decreased up to 83% compared to the routine protocol when using ultra-low-dose scanning settings. Similarly, for the 5-year phantom the greatest radiation dose reduction was 88%. The numerical simulations supported the findings with MOSFET measurements. The image quality remained adequate with Veo reconstruction, even at the lowest dose level. Craniosynostosis CT with model-based iterative reconstruction could be performed with a 20-μSv effective dose, corresponding to the radiation exposure of plain skull radiography, without compromising required image quality. (orig.)

  7. Endoscopic-assisted osteotomies for the treatment of craniosynostosis.

    Science.gov (United States)

    Hinojosa, J; Esparza, J; Muñoz, M J

    2007-12-01

    The development of multidisciplinar units for Craniofacial Surgery has led to better postoperative results and a considerable decrease in morbidity in the treatment of complex craniofacial patients. Standard correction of craniosynostosis involves calvarial remodeling, often considerable blood losses that need to be replaced and lengthy hospital stay. The use of minimally invasive techniques for the correction of some of these malformations are widespread and allows the surgeon to minimize the incidence of complications by means of a decreased surgical time, blood salvage, and shortening of postoperative hospitalization in comparison to conventional craniofacial techniques. Simple and milder craniosynostosis are best approached by endoscopy-assisted osteotomies and render the best results. Extended procedures other than simple suturectomies have been described for more severe patients. Different osteotomies resembling standard fronto-orbital have been developed for the correction, and the use of postoperative cranial orthesis may improve the final cosmetic appearance. Thus, endoscopic-assisted procedures differ from the simple strategy of single suture resection that rendered insufficient results in the past, and different approaches can be tailored to solve these cases in patients in the setting of a case-to-case bases.

  8. Management of craniosynostosis at an advanced age: Clinical findings and interdisciplinary treatment in a 17 year-old with pan-suture synostosis

    Directory of Open Access Journals (Sweden)

    Rajiv J. Iyengar, BS

    2015-03-01

    Full Text Available Craniosynostosis is the premature fusion of cranial sutures, occurring at a rate of approximately 1 in 2000 live births; it is usually diagnosed and treated within the first year-of-life. Some diagnoses are delayed and only detected later in childhood or adolescence when symptoms of increased intracranial pressure (ICP arise such as headaches and vision changes. We present a case of occult craniosynostosis in which a relatively normocephalic 17-year-old male presented with debilitating headaches, optic nerve edema, and developmental delay consistent with probable ICP elevation. CT scan demonstrated pan-suture craniosynostosis. Invasive monitoring confirmed increased ICP for which he underwent cranial remodeling and expansion. While the functional benefits of cranial remodeling are still vigorously debated, this patient’s headaches resolved postoperatively. Clinicians should be cognizant of cases of occult craniosynostosis, obtain the appropriate preoperative evaluations, and recognize the utility of cranial remodeling in appropriately selected patients.

  9. Angled oblique sagittal MR imaging of rotator cuff tears: comparison with standard oblique sagittal images

    International Nuclear Information System (INIS)

    Tuite, M.J.; Asinger, D.; Orwin, J.F.

    2001-01-01

    Objective. To compare the accuracy for diagnosing rotator cuff tears of oblique coronal images supplemented with standard oblique sagittal images versus thinner-section angled oblique sagittal images.Design and patients. The study included 75 consecutive patients who had a shoulder MR scan followed by arthroscopy. MR images included oblique coronal, oblique sagittal (4 mm thick, 1 mm interslice gap), and angled oblique sagittal (3 mm/0.2 mm) images perpendicular to the lateral cuff. A musculoskeletal staff radiologist and fellow separately evaluated the cuff for tears on the oblique coronal images supplemented with either the oblique sagittal or the angled sagittal images.Results. For distinguishing a cuff tear from no tear, the staff radiologist had an accuracy of 0.76 (95% confidence interval: 0.67, 0.85) with the standard sagittal set, and 0.88 (0.80, 0.95) with the angled set (P=0.04). There was a nonsignificant improvement in accuracy for the fellow, calculated as 0.73 (0.63, 0.83) on the standard sagittal set and 0.76 (0.67, 0.85) on the angled set. Both readers also improved their diagnostic accuracy for partial-thickness tears with the angled set, although the improvement was statistically significant only for the staff radiologist.Conclusion. There is a slight improvement in accuracy for diagnosing rotator cuff tears, particularly partial-thickness tears, for the more experienced radiologist using thinner-section angled oblique sagittal images. These images may be useful as a supplemental sequence in patients where it is important to identify partial-thickness tears accurately. (orig.)

  10. Angled oblique sagittal MR imaging of rotator cuff tears: comparison with standard oblique sagittal images

    Energy Technology Data Exchange (ETDEWEB)

    Tuite, M J; Asinger, D; Orwin, J F [Dept. of Radiology, Univ. of Wisconsin Hospital and Clinics, Madison, WI (United States)

    2001-05-01

    Objective. To compare the accuracy for diagnosing rotator cuff tears of oblique coronal images supplemented with standard oblique sagittal images versus thinner-section angled oblique sagittal images.Design and patients. The study included 75 consecutive patients who had a shoulder MR scan followed by arthroscopy. MR images included oblique coronal, oblique sagittal (4 mm thick, 1 mm interslice gap), and angled oblique sagittal (3 mm/0.2 mm) images perpendicular to the lateral cuff. A musculoskeletal staff radiologist and fellow separately evaluated the cuff for tears on the oblique coronal images supplemented with either the oblique sagittal or the angled sagittal images.Results. For distinguishing a cuff tear from no tear, the staff radiologist had an accuracy of 0.76 (95% confidence interval: 0.67, 0.85) with the standard sagittal set, and 0.88 (0.80, 0.95) with the angled set (P=0.04). There was a nonsignificant improvement in accuracy for the fellow, calculated as 0.73 (0.63, 0.83) on the standard sagittal set and 0.76 (0.67, 0.85) on the angled set. Both readers also improved their diagnostic accuracy for partial-thickness tears with the angled set, although the improvement was statistically significant only for the staff radiologist.Conclusion. There is a slight improvement in accuracy for diagnosing rotator cuff tears, particularly partial-thickness tears, for the more experienced radiologist using thinner-section angled oblique sagittal images. These images may be useful as a supplemental sequence in patients where it is important to identify partial-thickness tears accurately. (orig.)

  11. A novel neonatal Michelin Tire Baby Syndrome with craniosynostosis and gigantism

    Directory of Open Access Journals (Sweden)

    Ižbrahim Akalin

    2014-03-01

    Full Text Available     Michelin Tire Baby Syndrome is a rare congenital disorder and characterized clinically well defined multiple ring shaped skin creases. Our patient was born to onconsanguineous healthy parents as the third child of the family at 40 weeks of uneventful gestation with distinctive skin creases and gigantism. He was 4,950 g in weight (>90 percentile, 57.5 cm in length (>90 percentile, and had a head circumferences of 39.5 cm (>90 percentile at birth. The physical examination showed a rough face, brachicephaly and craniosynostosis. His vital and laboratory findings were within normal limits at birth. Cranial and renal ultrasonograms, Xray graphics and cytogenetic analyses were normal. Echocardiography revealed small patent ductus arteriosis and patent foramen ovale. In this report, we present a new case of Michelin Tire Baby Syndrome who is the first neonate associated with severe gigantism and craniosynostosis, in the literature. A review of the related literature has also been presented.

  12. Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

    Directory of Open Access Journals (Sweden)

    Manuel Schiff

    Full Text Available BACKGROUND: In the investigation of autism spectrum disorders (ASD, a genetic cause is found in approximately 10-20%. Among these cases, the prevalence of the rare inherited metabolic disorders (IMD is unknown and poorly evaluated. An IMD responsible for ASD is usually identified by the associated clinical phenotype such as dysmorphic features, ataxia, microcephaly, epilepsy, and severe intellectual disability (ID. In rare cases, however, ASD may be considered as nonsyndromic at the onset of a related IMD. OBJECTIVES: To evaluate the utility of routine metabolic investigations in nonsyndromic ASD. PATIENTS AND METHODS: We retrospectively analyzed the results of a metabolic workup (urinary mucopolysaccharides, urinary purines and pyrimidines, urinary creatine and guanidinoacetate, urinary organic acids, plasma and urinary amino acids routinely performed in 274 nonsyndromic ASD children. RESULTS: The metabolic parameters were in the normal range for all but 2 patients: one with unspecific creatine urinary excretion and the other with persistent 3-methylglutaconic aciduria. CONCLUSIONS: These data provide the largest ever reported cohort of ASD patients for whom a systematic metabolic workup has been performed; they suggest that such a routine metabolic screening does not contribute to the causative diagnosis of nonsyndromic ASD. They also emphasize that the prevalence of screened IMD in nonsyndromic ASD is probably not higher than in the general population (<0.5%. A careful clinical evaluation is probably more reasonable and of better medical practice than a costly systematic workup.

  13. The use of the T1 sagittal angle in predicting overall sagittal balance of the spine.

    Science.gov (United States)

    Knott, Patrick T; Mardjetko, Steven M; Techy, Fernando

    2010-11-01

    A balanced sagittal alignment of the spine has been shown to strongly correlate with less pain, less disability, and greater health status scores. To restore proper sagittal balance, one must assess the position of the occiput relative to the sacrum. The assessment of spinal balance preoperatively can be challenging, whereas predicting postoperative balance is even more difficult. This study was designed to evaluate and quantify multiple factors that influence sagittal balance. Retrospective analysis of existing spinal radiographs. A retrospective review of 52 adult spine patient records was performed. All patients had full-column digital radiographs that showed all the important skeletal landmarks necessary for accurate measurement. The average age of the patient was 53 years. Both genders were equally represented. The radiographs were measured using standard techniques to obtain the following parameters: scoliosis in the coronal plane; lordosis or kyphosis of the cervical, thoracic, and lumbar spine; the T1 sagittal angle (angle between a horizontal line and the superior end plate of T1); the angle of the dens in the sagittal plane; the angle of the dens in relation to the occiput; the sacral slope; the pelvic incidence; the femoral-sacral angle; and finally, the sagittal vertical axis (SVA) measured from both the dens of C2 and from C7. It was found that the SVA when measured from the dens was on average 16 mm farther forward than the SVA measured from C7 (p<.0001). The dens plumb line (SVA(dens)) was then used in the study. An analysis was done to examine the relationship between SVA(dens) and each of the other measurements. The T1 sagittal angle was found to have a moderate positive correlation (r=0.65) with SVA(dens), p<.0001, indicating that the amount of sagittal T1 tilt can be used as a good predictor of overall sagittal balance. When examining the other variables, it was found that cervical lordosis had a weak correlation (r=0.37) with SVA(dens) that was

  14. The study of I-123-IMP-SPECT before and after surgery for craniosynostosis

    International Nuclear Information System (INIS)

    Satoh, Motohiro; Ishikawa, Nobuyoshi; Enomoto, Takao; Takeda, Tohru; Yoshizawa, Takashi; Nose, Tadao.

    1990-01-01

    Single photon emission computed tomography with N-isopropyl-p-[I-123]iodoamphetamine was performed in 13 cases of craniosynostosis before and after surgery. Of 13 cases, 8 cases (62%) showed focal low perfusion area on preoperative study. Four of seven cases (57%) with brachycephaly showed low perfusion areas in either of frontal lobes, occipital lobes, and cerebellum. Besides, two patients with scaphocephaly and one with plagiocephaly showed low perfusion area in the unilateral cerebral hemisphere. Two Crouzon disease cases showed no focal low perfusion area, but an Apert disease showed low perfusion areas in both frontal lobes, cerebellum, as well as left occipital lobe. Corresponding CT and MRI showed no focal abnormality in any of these cases. These low perfusion areas were diminished or disappeared after surgical treatment in 6 cases (75%). We conclude that the I-123-IMP-SPECT is considered to be a useful index for the evaluation of functional recovery after surgery in cases of craniosynostosis. (author)

  15. Sagittal crest formation in great apes and gibbons.

    Science.gov (United States)

    Balolia, Katharine L; Soligo, Christophe; Wood, Bernard

    2017-06-01

    The frequency of sagittal crest expression and patterns of sagittal crest growth and development have been documented in hominoids, including some extinct hominin taxa, and the more frequent expression of the sagittal crest in males has been traditionally linked with the need for larger-bodied individuals to have enough attachment area for the temporalis muscle. In the present study, we investigate sagittal cresting in a dentally mature sample of four hominoid taxa (Pan troglodytes schweinfurthii, Gorilla gorilla gorilla, Pongo pygmaeus pygmaeus and Hylobates lar). We investigate whether sagittal crest size increases with age beyond dental maturity in males and females of G. g. gorilla and Po. pyg. pygmaeus, and whether these taxa show sex differences in the timing of sagittal crest development. We evaluate the hypothesis that the larger sagittal crest of males may not be solely due to the requirement for a larger surface area than the un-crested cranial vault can provide for the attachment of the temporalis muscle, and present data on sex differences in temporalis muscle attachment area and sagittal crest size relative to cranial size. Gorilla g. gorilla and Po. pyg. pygmaeus males show significant relationships between tooth wear rank and sagittal crest size, and they show sagittal crest size differences between age groups that are not found in females. The sagittal crest emerges in early adulthood in the majority of G. g. gorilla males, whereas the percentage of G. g. gorilla females possessing a sagittal crest increases more gradually. Pongo pyg. pygmaeus males experience a three-fold increase in the number of specimens exhibiting a sagittal crest in mid-adulthood, consistent with a secondary growth spurt. Gorilla g. gorilla and Po. pyg. pygmaeus show significant sex differences in the size of the temporalis muscle attachment area, relative to cranial size, with males of both taxa showing positive allometry not shown in females. Gorilla g

  16. Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.

    Science.gov (United States)

    Victorine, Anna S; Weida, Jennifer; Hines, Karrie A; Robinson, Barrett; Torres-Martinez, Wilfredo; Weaver, David D

    2014-03-01

    Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who has several unique and previously unreported manifestations including a large ovarian cyst and heterotaxy with malrotation of stomach, intestine, and liver. These findings were first noted by prenatal ultrasound and may assist in prenatally diagnosing additional cases of Carpenter syndrome. © 2014 Wiley Periodicals, Inc.

  17. Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association

    NARCIS (Netherlands)

    Bessenyei, Beáta; Nagy, Andrea; Balogh, Erzsébet; Novák, László; Bognár, László; Knegt, Alida C.; Oláh, Eva

    2013-01-01

    We report on a female patient with an exceedingly rare combination of achondroplasia and multiple-suture craniosynostosis. Besides the specific features of achondroplasia, synostosis of the metopic, coronal, lambdoid, and squamosal sutures was found. Series of neurosurgical interventions were

  18. Corrected Cephalometric Analysis to Determine the Distance and Vector of Distraction Osteogenesis for Syndromic Craniosynostosis

    Directory of Open Access Journals (Sweden)

    Shinji Kobayashi, MD

    2017-09-01

    Conclusions:. Using the corrected cephalometric analysis, the distance and vector of distraction osteogenesis with Le Fort III osteotomy could be determined in patients with syndromic craniosynostosis. The distraction system brought the patients' facial bones to the planned position using controlling devices.

  19. Sagittal crest formation in great apes and gibbons

    OpenAIRE

    Balolia, K. L.; Soligo, C.; Wood, B.

    2017-01-01

    The frequency of sagittal crest expression and patterns of sagittal crest growth and development have been documented in hominoids, including some extinct hominin taxa, and the more frequent expression of the sagittal crest in males has been traditionally linked with the need for larger-bodied individuals to have enough attachment area for the temporalis muscle. In the present study, we investigate sagittal cresting in a dentally mature sample of four hominoid taxa (Pan troglodytes schweinfur...

  20. Analysis of sagittal spinopelvic parameters in achondroplasia.

    Science.gov (United States)

    Hong, Jae-Young; Suh, Seung-Woo; Modi, Hitesh N; Park, Jong-Woong; Park, Jung-Ho

    2011-08-15

    Prospective radiological analysis of patients with achondroplasia. To analyze sagittal spinal alignment and pelvic orientation in achondroplasia patients. Knowledge of sagittal spinopelvic parameters is important for the treatment of achondroplasia, because they differ from those of the normal population and can induce pain. The study and control groups were composed of 32 achondroplasia patients and 24 healthy volunteers, respectively. All underwent lateral radiography of the whole spine including hip joints. The radiographic parameters examined were sacral slope (SS), pelvic tilt, pelvic incidence (PI), S1 overhang, thoracic kyphosis, T10-L2 kyphosis, lumbar lordosis (LL1, LL2), and sagittal balance. Statistical analysis was performed to identify significant differences between the two groups. In addition, correlations between parameters and symptoms were sought. Sagittal spinopelvic parameters, namely, pelvic tilt, pelvic incidence, S1 overhang, thoracic kyphosis, T10-L2 kyphosis, lumbar lordosis 1 and sagittal balance were found to be significantly different in the patient and control groups (P achondroplasia patients and normal healthy controls. The present study shows that sagittal spinal and pelvic parameters can assist the treatment of spinal disorders in achondroplasia patients.

  1. A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia

    NARCIS (Netherlands)

    Kogelenberg, M. van; Lerone, M.; Toni, T. De; Divizia, M.T.; Brouwer, A.P. de; Veltman, J.A.; Bokhoven, J.H.L.M. van; Robertson, S.P.

    2011-01-01

    We report on a follow-up evaluation of a male with a phenotype including craniosynostosis, periventricular nodular heterotopia, and neurodevelopmental delay. He was initially assigned a clinical diagnosis of Fontaine-Farriaux syndrome (FFS) as an infant although now, with improved delineation of

  2. Papilledema in the Setting of X-Linked Hypophosphatemic Rickets with Craniosynostosis

    Directory of Open Access Journals (Sweden)

    Lora R. Dagi Glass

    2011-12-01

    Full Text Available Purpose: Introduction to the ophthalmic literature of an unusual cause of papilledema and subsequent optic atrophy: X-linked hypophosphatemic rickets (XLH. Methods: Case report of a 3-year-old female presenting with papilledema resulting from craniosynostosis secondary to XLH. Results: Early intervention with craniofacial surgery prevented the development of optic atrophy. Conclusion: Children with XLH should be screened for ophthalmic evidence of elevated intracranial pressure to aid early intervention and prevention of permanent loss of vision.

  3. Using spectral-domain optical coherence tomography to detect optic neuropathy in patients with craniosynostosis.

    Science.gov (United States)

    Dagi, Linda R; Tiedemann, Laura M; Heidary, Gena; Robson, Caroline D; Hall, Amber M; Zurakowski, David

    2014-12-01

    Detecting and monitoring optic neuropathy in patients with craniosynostosis is a clinical challenge due to limited cooperation, and subjective measures of visual function. The purpose of this study was to appraise the correlation of peripapillary retinal nerve fiber layer (RNFL) thickness measured by spectral-domain ocular coherence tomography (SD-OCT) with indication of optic neuropathy based on fundus examination. The medical records of all patients with craniosynostosis presenting for ophthalmic evaluation during 2013 were retrospectively reviewed. The following data were abstracted from the record: diagnosis, historical evidence of elevated intracranial pressure, current ophthalmic evaluation and visual field results, and current peripapillary RNFL thickness. A total of 54 patients were included (mean age, 10.6 years [range, 2.4-33.8 years]). Thirteen (24%) had evidence of optic neuropathy based on current fundus examination. Of these, 10 (77%) demonstrated either peripapillary RNFL elevation and papilledema or depression with optic atrophy. Sensitivity for detecting optic atrophy was 88%; for papilledema, 60%; and for either form of optic neuropathy, 77%. Specificity was 94%, 90%, and 83%, respectively. Kappa agreement was substantial for optic atrophy (κ = 0.73) and moderate for papilledema (κ = 0.39) and for either form of optic neuropathy (κ = 0.54). Logistic regression indicated that peripapillary RNFL thickness was predictive of optic neuropathy (P optic neuropathy than visual field testing (likelihood ratio = 10.02; P = 0.002). Sensitivity and specificity of logMAR visual acuity in detecting optic neuropathy were 15% and 95%, respectively. Peripapillary RNFL thickness measured by SD-OCT provides adjunctive evidence for identifying optic neuropathy in patients with craniosynostosis and appears more sensitive at detecting optic atrophy than papilledema. Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by

  4. The occipitofrontal circumference: reliable prediction of the intracranial volume in children with syndromic and complex craniosynostosis.

    Science.gov (United States)

    Rijken, Bianca Francisca Maria; den Ottelander, Bianca Kelly; van Veelen, Marie-Lise Charlotte; Lequin, Maarten Hans; Mathijssen, Irene Margreet Jacqueline

    2015-05-01

    OBJECT Patients with syndromic and complex craniosynostosis are characterized by the premature fusion of one or more cranial sutures. These patients are at risk for developing elevated intracranial pressure (ICP). There are several factors known to contribute to elevated ICP in these patients, including craniocerebral disproportion, hydrocephalus, venous hypertension, and obstructive sleep apnea. However, the causal mechanism is unknown, and patients develop elevated ICP even after skull surgery. In clinical practice, the occipitofrontal circumference (OFC) is used as an indirect measure for intracranial volume (ICV), to evaluate skull growth. However, it remains unknown whether OFC is a reliable predictor of ICV in patients with a severe skull deformity. Therefore, in this study the authors evaluated the relation between ICV and OFC. METHODS Eighty-four CT scans obtained in 69 patients with syndromic and complex craniosynostosis treated at the Erasmus University Medical Center-Sophia Children's Hospital were included. The ICV was calculated based on CT scans by using autosegmentation with an HU threshold CT scans and OFC measurements were matched based on a maximum amount of the time that was allowed between these examinations, which was dependent on age. A Pearson correlation coefficient was calculated to evaluate the correlations between OFC and ICV. The predictive value of OFC, age, and sex on ICV was then further evaluated using a univariate linear mixed model. The significant factors in the univariate analysis were subsequently entered in a multivariate mixed model. RESULTS The correlations found between OFC and ICV were r = 0.908 for the total group (p < 0.001), r = 0.981 for Apert (p < 0.001), r = 0.867 for Crouzon-Pfeiffer (p < 0.001), r = 0.989 for Muenke (p < 0.001), r = 0.858 for Saethre- Chotzen syndrome (p = 0.001), and r = 0.917 for complex craniosynostosis (p < 0.001). Age and OFC were significant predictors of ICV in the univariate linear mixed

  5. Association of MEOX2 polymorphism with nonsyndromic cleft palate only in a Vietnamese population.

    Science.gov (United States)

    Tran, Duy L; Imura, Hideto; Mori, Akihiro; Suzuki, Satoshi; Niimi, Teruyuki; Ono, Maya; Sakuma, Chisato; Nakahara, Shinichi; Nguyen, Tham T H; Pham, Phuong T; Hoang, Viet; Tran, Van T T; Nguyen, Minh D; Natsume, Nagato

    2017-10-14

    To evaluate the association between the single nucleotide polymorphism (SNP) rs227493 in the MEOX2 gene and nonsyndromic cleft palate only, this research was conducted as a case-control study by comparing a nonsyndromic cleft palate only group with an independent, healthy, and unaffected control group who were both examined by specialists. Based on clinical examination and medical records, we analyzed a total of 570 DNA samples, including 277 cases and 293 controls, which were extracted from dry blood spot samples collected from both the Odonto and Maxillofacial Hospital in Ho Chi Minh City and Nguyen Dinh Chieu Hospital in Ben Tre province, respectively. The standard procedures of genotyping the specific SNP (rs2237493) for MEOX2 were performed on a StepOne Realtime PCR system with TaqMan SNP Genotyping Assays. Significant statistical differences were observed in allelic frequencies (allele T and allele G) between the non-syndromic cleft palate only and control groups in female subjects, with an allelic odds ratio of 1.455 (95% confidence interval: 1.026-2.064) and P < 0.05. These study findings suggest that nonsyndromic isolated cleft palate might be influenced by variation of MEOX2, especially SNP rs2237493 in Vietnamese females. © 2017 Japanese Teratology Society.

  6. The need for orthognathic surgery in nonsyndromic patients with repaired isolated cleft palate.

    Science.gov (United States)

    Antonarakis, Gregory S; Watts, Guy; Daskalogiannakis, John

    2015-01-01

    To determine the frequency of need for orthognathic surgery among nonsyndromic patients with isolated cleft palate repaired during infancy at The Hospital for Sick Children in Toronto, Canada. Retrospective cohort study. PATIENTS with nonsyndromic isolated cleft palate born between 1970 and 1997 with available records including a lateral cephalometric radiograph taken at ≥15 years of age. PATIENTS who had undergone or were being prepared for orthognathic surgery were automatically counted as requiring surgery. For the remaining patients, lateral cephalometric radiographs were traced and analyzed. Arbitrarily set cephalometric criteria were used to identify the "objective" need for orthognathic surgery. Of the 189 patients identified with nonsyndromic isolated cleft palate and for whom records were available, 25 (13.2%) were deemed to require orthognathic surgery. Of the surgical cohort, 92% required surgical correction for a Class III malocclusion. Similar percentages of males and females required orthognathic surgery. An apparently greater proportion of patients of Asian background (18.5%) than of white background (10.6%) required surgery, but this difference was not significant (P = .205). The current results suggest that approximately one in eight patients at our institution with nonsyndromic isolated cleft palate requires orthognathic surgery. There is a tendency for this to be higher in patients of Asian descent and lower in patients of white descent. Variability in extent, severity, and phenotype of the cleft, which may be attributed largely to genetics, may play an important role in dictating the need for orthognathic surgery.

  7. Concordance of MRI and EEG Focal Slowing in Nonsyndromic Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-04-01

    Full Text Available Investigators at the Kangwon National University, Korea, and The Epilepsy Center, Lurie Children’s Hospital of Chicago, USA studied the correlation and significance of EEG focal slowing and focal MRI abnormalities in 253 children with nonsyndromic epilepsy.

  8. Association of single nucleotide polymorphisms in WNT genes with the risk of nonsyndromic cleft lip with or without cleft palate.

    Science.gov (United States)

    Rafighdoost, Houshang; Hashemi, Mohammad; Asadi, Hossein; Bahari, Gholamreza

    2018-01-22

    Nonsyndromic cleft lip with or without cleft palate is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors has been indicated to be related with susceptibility to nonsyndromic cleft lip with or without cleft palate. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate. In the present study, we aimed to inspect the relationship between WNT3 (rs3809857 and rs9890413), WNT3A (rs752107 and rs3121310), and WNT10a rs201002930 (c.392 C>T) polymorphisms and nonsyndromic cleft lip with or without cleft palate in an Iranian population. The present case-control study was carried out on 120 unrelated nonsyndromic cleft lip with or without cleft palate patients and 112 healthy subjects. The variants were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The findings suggest that the rs3809857 polymorphism significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.16, 95% confidence interval = 0.03-0.75, P = 0.020, TT vs GG), recessive (odds ratio = 0.16, 95% confidence interval = 0.03-0.72, P = 0.009, TT vs GG + GT) inheritance models. The rs9890413 variant marginally decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.41, 95% confidence interval = 0.17-0.99, P = 0.047, AG vs AA) model. Regarding C392T variant, the findings revealed that this variant significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.24, 95% confidence interval = 0.10-0.58, P = 0.002, CT vs CC) and allele (odds ratio = 0.26, 95% confidence interval = 0.11-0.62, P = 0.002, T vs C) models. No significant association was observed between the rs752107 and rs3121310 variants

  9. Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.

    Science.gov (United States)

    Villa, Olaya; Del Campo, Miguel; Salido, Marta; Gener, Blanca; Astier, Laura; Del Valle, Jesús; Gallastegui, Fátima; Pérez-Jurado, Luis A; Solé, Francesc

    2007-05-15

    We report on a child with a small supernumerary marker chromosome (sSMC) causing partial trisomy 6p. The child showed a phenotype consisting of neonatal craniosynostosis, microcephaly, and borderline developmental delay. By molecular techniques the sSMC has been shown to contain approximately 16 Mb of genomic DNA from 6p21.1 to 6cen, being de novo and of maternal origin.

  10. Custom made orthotic device for maintaining skull architecture during the postoperative period in infants undergoing craniosynostosis surgery

    Science.gov (United States)

    Gopal, Venu; Ganesh, Praveen; Nagarjuna, Muralidhara; Kumar, Kiran; Shetty, Samarth; Salins, Paul C.

    2015-01-01

    Aim To fabricate a cost effective, indigenous and simple orthotics helmet for post-operative cranial molding in patients with craniosynostosis surgery. Methods We present a case of 15 month old infant with secondary cranial vault deformity. Cranial vault remodeling surgery involving the posterior skull was planned and executed to increase the posterior gap, so that brain growth would be facilitated towards this empty space. Materials such as thermoplastic sponge, thermoplastic ionomer resin sheet, soft sponge and Velcro straps are used to fabricate a cranial orthotics helmet. Results We have successfully used the above materials to fabricate the orthotics helmet for post-operative cranial molding. Conclusion The technique described in this article is simple and cost effective. It can be custom made according to the demands of the surgical technique and the type of synostosis. It favors an individualistic prognosis, and proves worthwhile as every synostosis requires a unique treatment plan. It is an excellent adjuvant to craniosynostosis remodeling surgery. PMID:26258018

  11. The usefulness of sagittal reformation for diagnosis of sternal fracture

    Energy Technology Data Exchange (ETDEWEB)

    Im, Dong Jin; Hahn, Seok; Kim, Young Ju [Dept. of Radiology, Wonju Severance Christian Hospital, Yonsei University Wonju College of Medicine, Wonju (Korea, Republic of)

    2014-01-15

    The purpose of our study was to evaluate the usefulness of sagittal reformation of chest computed tomography for the diagnosis of sternal fracture after trauma. We retrospectively reviewed medical records and chest computer tomography (CT) of 716 patients in the emergency department after trauma between January and December 2010. Two radiologists investigated chest CT images. We investigated numbers and locations of sternal fractures on axial images only and on both axial and sagittal images for each radiologist. First, radiologist found sternal fractures in 58 patients (70.7%) on only axial images, and 80 (97.5%) on both axial and sagittal images. Second, radiologist found fractures in 67 patients (81.7%) on axial image only and 81 (98.7%) on both axial and sagittal images. The sensitivity increased after adding sagittal reformation images for each radiologist (p < 0.05, respectively). On the axial images, the interobserver agreement was low (k 0.596) between the two radiologists. However, on both axial and sagittal images, the interobserver agreement increased (k = 0.872). Sagittal reformation of chest CT increases the chance of diagnosis for sternal fracture and leads to early diagnosis resulting in appropriate treatment.

  12. The usefulness of sagittal reformation for diagnosis of sternal fracture

    International Nuclear Information System (INIS)

    Im, Dong Jin; Hahn, Seok; Kim, Young Ju

    2014-01-01

    The purpose of our study was to evaluate the usefulness of sagittal reformation of chest computed tomography for the diagnosis of sternal fracture after trauma. We retrospectively reviewed medical records and chest computer tomography (CT) of 716 patients in the emergency department after trauma between January and December 2010. Two radiologists investigated chest CT images. We investigated numbers and locations of sternal fractures on axial images only and on both axial and sagittal images for each radiologist. First, radiologist found sternal fractures in 58 patients (70.7%) on only axial images, and 80 (97.5%) on both axial and sagittal images. Second, radiologist found fractures in 67 patients (81.7%) on axial image only and 81 (98.7%) on both axial and sagittal images. The sensitivity increased after adding sagittal reformation images for each radiologist (p < 0.05, respectively). On the axial images, the interobserver agreement was low (k 0.596) between the two radiologists. However, on both axial and sagittal images, the interobserver agreement increased (k = 0.872). Sagittal reformation of chest CT increases the chance of diagnosis for sternal fracture and leads to early diagnosis resulting in appropriate treatment.

  13. Modeling the autistic cell: iPSCs recapitulate developmental principles of syndromic and nonsyndromic ASD.

    Science.gov (United States)

    Ben-Reuven, Lihi; Reiner, Orly

    2016-06-01

    The opportunity to model autism spectrum disorders (ASD) through generation of patient-derived induced pluripotent stem cells (iPSCs) is currently an emerging topic. Wide-scale research of altered brain circuits in syndromic ASD, including Rett Syndrome, Fragile X Syndrome, Angelman's Syndrome and sporadic Schizophrenia, was made possible through animal models. However, possibly due to species differences, and to the possible contribution of epigenetics in the pathophysiology of these diseases, animal models fail to recapitulate many aspects of ASD. With the advent of iPSCs technology, 3D cultures of patient-derived cells are being used to study complex neuronal phenotypes, including both syndromic and nonsyndromic ASD. Here, we review recent advances in using iPSCs to study various aspects of the ASD neuropathology, with emphasis on the efforts to create in vitro model systems for syndromic and nonsyndromic ASD. We summarize the main cellular activity phenotypes and aberrant genetic interaction networks that were found in iPSC-derived neurons of syndromic and nonsyndromic autistic patients. © 2016 Japanese Society of Developmental Biologists.

  14. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

    Science.gov (United States)

    Ahmed, Zubair M; Smith, Tenesha N; Riazuddin, Saima; Makishima, Tomoko; Ghosh, Manju; Bokhari, Sirosh; Menon, Puthezhath S N; Deshmukh, Dilip; Griffith, Andrew J; Riazuddin, Sheikh; Friedman, Thomas B; Wilcox, Edward R

    2002-06-01

    Human chromosome 11 harbors two Usher type I loci, USHIB and USHIC, which encode myosin VIIA and harmonin, respectively. The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18. We found an IVS12+5G-->C mutation in the USHIC gene, which is associated with nonsyndromic recessive deafness ( DFNB18) segregating in the original family, S-11/12. No other disease-associated mutation was found in the other 27 exons or in the intron-exon boundaries, and the IVS12+5G-->C mutation was not present in 200 representative unaffected individuals ascertained from the same area of India. An exon-trapping assay with a construct harboring IVS12+5G-->C generated wildtype spliced mRNA having exons 11 and 12 and mRNA that skipped exon 12. We conclude that mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18.

  15. Genetics of syndromic and non-syndromic mitral valve prolapse.

    Science.gov (United States)

    Le Tourneau, Thierry; Mérot, Jean; Rimbert, Antoine; Le Scouarnec, Solena; Probst, Vincent; Le Marec, Hervé; Levine, Robert A; Schott, Jean-Jacques

    2018-01-19

    Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the identification of prodromal or atypical forms as a part of the complex spectrum of the disease. Whereas autosomal dominant mode is the common inheritance pattern, an X linked form of non-syndromic MVP was recognised initially, related to Filamin-A gene, encoding for a cytoskeleton protein involved in mechanotransduction. This identification allowed a comprehensive description of a new subtype of MVP with a unique association of leaflet prolapse and paradoxical restricted motion in diastole. In autosomal dominant forms, three loci have been mapped to chromosomes 16p11-p12, 11p15.4 and 13q31-32. Although deciphering the underlying genetic defects is still a work in progress, DCHS1 mutations have been identified (11p15.4) in typical myxomatous disease, highlighting new molecular pathways and pathophysiological mechanisms leading to the development of MVP. Finally, a large international genome-wide association study demonstrated the implication of frequent variants in MVP development and opened new directions for future research. Hence, this review focuses on phenotypic, genetic and pathophysiological aspects of MVP. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  16. A osteogenesis distraction device enabling control of vertical direction for syndromic craniosynostosis.

    Science.gov (United States)

    Kobayashi, Shinji; Fukawa, Toshihiko; Hirakawa, Takashi; Maegawa, Jiro

    2014-02-01

    We have developed a hybrid facial osteogenesis distraction system that combines the advantages of external and internal distraction devices to enable control of both the distraction distance and vector. However, when the advanced maxilla has excessive clockwise rotation and shifts more downward vertically than planned, it might be impossible to pull it up to correct it. We invented devices attached to external distraction systems that can control the vertical vector of distraction to resolve this problem. The purpose of this article is to describe the result of utilizing the distraction system for syndromic craniosynostosis. In addition to a previously reported hybrid facial distraction system, the devices for controlling the vertical direction of the advanced maxilla were attached to the external distraction device. The vertical direction of the advanced maxilla can be controlled by adjustment of the spindle units. This system was used for 2 patients with Crouzon and Apert syndrome. The system enabled control of the vertical distance, with no complications during the procedures. As a result, the maxilla could be advanced into the planned position including overcorrection without excessive clockwise rotation of distraction. Our system can alter the cases and bring them into the planned position, by controlling the vertical vector of distraction. We believe that this system might be effective in infants with syndromic craniosynostosis as it involves 2 osteotomies and horizontal and vertical direction of elongation can be controlled.

  17. A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Liu, Huan; Carlson, Jenna C

    2016-01-01

    Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP h...

  18. Acute proximal junctional failure in patients with preoperative sagittal imbalance.

    Science.gov (United States)

    Smith, Micah W; Annis, Prokopis; Lawrence, Brandon D; Daubs, Michael D; Brodke, Darrel S

    2015-10-01

    Proximal junctional failure (PJF) is a recognized complication of spinal deformity surgery. Acute PJF (APJF) has recently been demonstrated to be 5.6% in the adult spinal deformity (ASD) population. The incidence and rate of return to the operating room for APJF have not been specifically investigated in individuals with sagittal imbalance. The purpose of this study was to report the incidence of APJF in patients with preoperative sagittal imbalance and the rate of return to the operating room for APJF. This study is based on a retrospective review of prospectively collected database of ASD patients. One hundred seventy-three consecutive patients were included with preoperative sagittal imbalance according to one of the following common parameters: sagittal vertical axis (SVA) greater than 50 mm, global sagittal alignment greater than 45°, or pelvic incidence minus lumbar lordosis greater than 10°. Outcome measure was presence and/or absence of APJF defined as fracture at the upper instrumented vertebra (UIV) or UIV+1, failure of UIV fixation, 15° or more proximal junctional kyphosis, or need for extension of instrumentation within 6 months of surgery. We performed radiographic measurements on X-rays at preoperative, immediate postoperative, and 6-month follow-up visits. The APJF rate was reported for the entire patient population with preoperative sagittal imbalance. Acute PJF incidence was calculated postoperatively for each of the accepted sagittal balance parameters and/or formulas. Patients with persistent postoperative sagittal imbalance were compared with the sagittally balanced group. We also assessed for threshold values. Acute PJF was observed in 60 of 173 patients (35%) and was least common in fusions with the UIV in the upper thoracic (UT) spine (p=.035). Of those who developed APJF, 21.7% required surgery. Proximal junctional kyphosis 15° or more was the most common form of APJF in fusions to the UT spine but least likely to need revision (p=.014

  19. FUNCTIONAL DISABILITY, SAGITTAL ALIGNMENT AND PELVIC BALANCE IN LUMBAR SPONDYLOLISTHESIS

    Directory of Open Access Journals (Sweden)

    Luis Muñiz Luna

    2016-03-01

    Full Text Available ABSTRACT Objectives: To demonstrate the recovery of lumbar sagittal pelvic alignment and sagittal pelvic balance after surgical reduction of lumbar spondylolisthesis and establish the benefits of the surgery for reduction and fixation of the lumbar spondylolisthesis with 360o circumferential arthrodesis for 2 surgical approaches by clinical and functional evaluation. Method: Eight patients with lumbar spondylolisthesis treated with surgical reduction and fixation of listhesis and segmental circumferential fusion with two surgical approaches were reviewed. They were evaluated before and after treatment with Oswestry, Visual Analogue for pain and Odom scales, performing radiographic measurement of lumbar sagittal alignment and pelvic sagittal balance with the technique of pelvic radius. Results: Oswestry scales and EVA reported improvement of symptoms after treatment in 8 cases; the Odom scale had six outstanding cases reported. The lumbar sagittal alignment presented a lumbosacral lordosis angle and a lumbopelvic lordosis angle reduced in 4 cases and increased in 4 other cases; pelvic sagittal balance increased the pelvic angle in 4 cases and decreased in 3 cases and the sacral translation of the hip axis to the promontory increased in 6 cases. Conclusion: The surgical procedure evaluated proved to be useful by modifying the lumbar sagittal alignment and the pelvic balance, besides reducing the symptoms, enabling the patient to have mobility and movement and the consequent satisfaction with the surgery.

  20. A rare nonsyndromic presentation of bilateral doughnut shaped lip pits in an Indian child

    Directory of Open Access Journals (Sweden)

    Senthil Balasubramani

    2016-01-01

    Full Text Available Lip pits are a rare congenital anomaly that presents on the upper or lower lip or the commissure of the lips. Lip pits are an autosomal dominant trait occurring almost always in association with cleft lip or palate. They most commonly occur in association with developmental disturbances such as Van der Woude's syndrome, popliteal pterygium syndrome, oro-facial-digital syndrome, Marres-Cremers syndrome, and Hirschsprung disease. Its occurrence in nonsyndromic individuals is extremely rare with only a handful of cases reported. The identification of lip pits with other associated anomalies is crucial for genetic counseling; we report a case of nonsyndromic presentation of bilateral lip pits.

  1. Radiological assessment of skull base changes in children with syndromic craniosynostosis: role of ''minor'' sutures

    International Nuclear Information System (INIS)

    Calandrelli, Rosalinda; D'Apolito, Gabriella; Gaudino, Simona; Stefanetti, Mariangela; Colosimo, Cesare; Massimi, Luca; Di Rocco, Concezio

    2014-01-01

    This study aims to identify the premature synostosis of ''major'' and ''minor'' sutures of the four ''sutural arches'' of the skull and to perform a morphometric analysis in children with syndromic craniosynostosis in order to evaluate changes in the skull base linked with premature suture synostosis. We reviewed multiplanar high-resolution CT images, implemented with 3D reconstructions, from 18 patients with complex syndromic craniosynostosis and compared them with 18 age-matched healthy subjects. We assessed the calvarial sutures and their extension to the skull base, and then we correlated specific types of synostosis with the size, shape and symmetry of the cranial fossae. We found a marked asymmetry of the skull base growth in all patients. The synostotic involvement around the coronal ring caused a reduction in the growth of the anterior and middle fossae. The size of the posterior cranial fossa was related not only to ''major'' but also to ''minor'' suture synostosis of the lambdoid and parieto-squamosal arches. Changes in the skull base and craniofacial axis symmetry are due to structural and functional relationships between ''major'' and ''minor'' skull sutures, suggesting a structural and functional relationship between the neurocranium and basicranium. The early recognition of prematurely closed skull base sutures may help clinicians and neurosurgeons to establish correct therapeutic approaches. (orig.)

  2. Behavioral Signs of (Central) Auditory Processing Disorder in Children With Nonsyndromic Cleft Lip and/or Palate: A Parental Questionnaire Approach.

    Science.gov (United States)

    Ma, Xiaoran; McPherson, Bradley; Ma, Lian

    2016-03-01

    Objective Children with nonsyndromic cleft lip and/or palate often have a high prevalence of middle ear dysfunction. However, there are also indications that they may have a higher prevalence of (central) auditory processing disorder. This study used Fisher's Auditory Problems Checklist for caregivers to determine whether children with nonsyndromic cleft lip and/or palate have potentially more auditory processing difficulties compared with craniofacially normal children. Methods Caregivers of 147 school-aged children with nonsyndromic cleft lip and/or palate were recruited for the study. This group was divided into three subgroups: cleft lip, cleft palate, and cleft lip and palate. Caregivers of 60 craniofacially normal children were recruited as a control group. Hearing health tests were conducted to evaluate peripheral hearing. Caregivers of children who passed this assessment battery completed Fisher's Auditory Problems Checklist, which contains 25 questions related to behaviors linked to (central) auditory processing disorder. Results Children with cleft palate showed the lowest scores on the Fisher's Auditory Problems Checklist questionnaire, consistent with a higher index of suspicion for (central) auditory processing disorder. There was a significant difference in the manifestation of (central) auditory processing disorder-linked behaviors between the cleft palate and the control groups. The most common behaviors reported in the nonsyndromic cleft lip and/or palate group were short attention span and reduced learning motivation, along with hearing difficulties in noise. Conclusion A higher occurrence of (central) auditory processing disorder-linked behaviors were found in children with nonsyndromic cleft lip and/or palate, particularly cleft palate. Auditory processing abilities should not be ignored in children with nonsyndromic cleft lip and/or palate, and it is necessary to consider assessment tests for (central) auditory processing disorder when an

  3. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

    Science.gov (United States)

    Astuto, L M; Bork, J M; Weston, M D; Askew, J W; Fields, R R; Orten, D J; Ohliger, S J; Riazuddin, S; Morell, R J; Khan, S; Riazuddin, S; Kremer, H; van Hauwe, P; Moller, C G; Cremers, C W R J; Ayuso, C; Heckenlively, J R; Rohrschneider, K; Spandau, U; Greenberg, J; Ramesar, R; Reardon, W; Bitoun, P; Millan, J; Legge, R; Friedman, T B; Kimberling, W J

    2002-08-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia.

  4. CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

    Science.gov (United States)

    Astuto, L. M.; Bork, J. M.; Weston, M. D.; Askew, J. W.; Fields, R. R.; Orten, D. J.; Ohliger, S. J.; Riazuddin, S.; Morell, R. J.; Khan, S.; Riazuddin, S.; Kremer, H.; van Hauwe, P.; Moller, C. G.; Cremers, C. W. R. J.; Ayuso, C.; Heckenlively, J. R.; Rohrschneider, K.; Spandau, U.; Greenberg, J.; Ramesar, R.; Reardon, W.; Bitoun, P.; Millan, J.; Legge, R.; Friedman, T. B.; Kimberling, W. J.

    2002-01-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP–like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia. PMID:12075507

  5. Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting

    DEFF Research Database (Denmark)

    Roosenboom, Jasmien; Indencleef, Karlijne; Hens, Greet

    2017-01-01

    Nonsyndromic orofacial clefts (OFCs) are complex traits characterized by multifactorial inheritance and wide phenotypic variability. Numerous studies have shown subtle differences in the faces of unaffected relatives from cleft families compared to controls, the implication being that such outwar...

  6. Reliability of cervical lordosis and global sagittal spinal balance measurements in adolescent idiopathic scoliosis.

    Science.gov (United States)

    Vidal, Christophe; Ilharreborde, Brice; Azoulay, Robin; Sebag, Guy; Mazda, Keyvan

    2013-06-01

    Radiological reproducibility study. To assess intra and interobserver reliability of radiographic measurements for global sagittal balance parameters and sagittal spine curves, including cervical spine. Sagittal spine balance in adolescent idiopathic scoliosis (AIS) is a main issue and many studies have been reported, showing that coronal and sagittal deformities often involve sagittal cervical unbalance. Global sagittal balance aims to obtain a horizontal gaze and gravity line at top of hips when subject is in a static position, involving adjustment of each spine curvature in the sagittal plane. To our knowledge, no study did use a methodologically validated imaging analysis tool able to appreciate sagittal spine contours and distances in AIS and especially in the cervical region. Lateral full-spine low-dose EOS radiographs were performed in 75 patients divided in three groups (control subjects, AIS, operated AIS). Three observers digitally analyzed twice each radiograph and 11 sagittal measures were collected for each image. Reliability was assessed calculating intraobserver Pearson's r correlation coefficient, interobserver intra-class correlation coefficient (ICC) completed with a two-by-two Bland-Altman plot analysis. This measurement method has shown excellent intra and interobserver reliability in all parameters, sagittal curvatures, pelvic parameters and global sagittal balance. This study validated a simple and efficient tool in AIS sagittal contour analysis. It defined new relevant landmarks allowing to characterize cervical segmental curvatures and cervical involvement in global balance.

  7. CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

    OpenAIRE

    Astuto, L. M.; Bork, J. M.; Weston, M. D.; Askew, J. W.; Fields, R. R.; Orten, D. J.; Ohliger, S. J.; Riazuddin, S.; Morell, R. J.; Khan, S.; Riazuddin, S.; Kremer, H.; van Hauwe, P.; Moller, C. G.; Cremers, C. W. R. J.

    2002-01-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deaf...

  8. Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate.

    Science.gov (United States)

    Dentino, K M; Valstar, A; Padwa, B L

    2016-06-01

    The goal of this study was to describe the clinical characteristics and treatment outcomes of patients with hemifacial microsomia (HFM) and cleft lip/palate (CL/P), and to compare them to a historic cohort of patients with non-syndromic CL/P treated at the same centre. A retrospective review of patients with HFM and CL/P was performed; the main outcome measures assessed were cleft type/side, surgical outcome, midfacial retrusion, and speech. Twenty-six patients (13 male, 13 female; mean age 22.7±14.9, range 1-52 years) with cleft lip with/without cleft palate (CL±P) were identified: three with cleft lip (12%), two with cleft lip and alveolus and an intact secondary palate (8%), and 21 with cleft lip and palate (CLP) (81%; 15 unilateral and six bilateral). Four patients (19%) had a palatal fistula after palatoplasty. Twelve of 22 patients aged >5 years (55%) had midfacial retrusion and two (9%) required a pharyngeal flap for velopharyngeal insufficiency (VPI). Fisher's exact test demonstrated a higher frequency of complete labial clefting (P=0.004), CLP (P=0.009), midfacial retrusion (P=0.0009), and postoperative palatal fistula (P=0.03) in HFM compared to non-syndromic CL±P. There was no difference in VPI prevalence. This study revealed that patients with HFM and CL±P have more severe forms of orofacial clefting than patients with non-syndromic CL±P. Patients with HFM and CL±P have more severe midfacial retrusion and a higher palatal fistula rate compared to patients with non-syndromic CL±P. Copyright © 2015 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  9. Back to the future: sagittal CT in the evaluation of COPD

    International Nuclear Information System (INIS)

    Hightower, Jessica S.; Amadi, Chiemezie; Den, Elana; Schmitt, James E.; Shah, Rosita M.; Miller, Wallace T.

    2016-01-01

    To identify features of obstructive airway disease on sagittal reconstruction, compare the accuracy of findings to traditional imaging characteristics of COPD, and determine the fraction of additional cases identified using new characteristics. The study was approved by the centre's Institutional Review Board and is HIPAA compliant. Two hundred sixteen patients with HRCT and spirometry within a 3-month window were included. Four radiologists evaluated each HRCT for traditional characteristics of COPD and new quantitative and qualitative features of obstruction on axial and sagittal reconstructions. Imaging characteristics were assessed for correlation with the spirometric diagnosis of obstructive airway disease. Quantitative and qualitative findings on sagittal reconstruction are highly specific for COPD (specificity >90 %). Features of hyperinflation on sagittal reconstruction are more accurate predictors of obstruction than traditional axial measures, with greater interobserver reliability (hyperinflation left hemidiaphragm: accuracy: 70.08 % ± 2.49 %; kappa: 0.511 versus traditional measures: accuracy: 62.00 % ± 5.38 %; kappa: 0.407). Sagittal reconstruction identified 27-70 % more patients with COPD than traditional axial findings (p < 0.05). Analysis of sagittal reconstruction enables greater accuracy and specificity in the diagnosis of obstructive airway disease compared to traditional measures on axial imaging. Use of sagittal reconstructions can help identify up to 70 % more patients with COPD than traditional imaging findings alone. (orig.)

  10. Minimizing transfusion requirements for children undergoing craniosynostosis repair: the CHoR protocol.

    Science.gov (United States)

    Vega, Rafael A; Lyon, Camila; Kierce, Jeannette F; Tye, Gary W; Ritter, Ann M; Rhodes, Jennifer L

    2014-08-01

    Children with craniosynostosis may require cranial vault remodeling to prevent or relieve elevated intracranial pressure and to correct the underlying craniofacial abnormalities. The procedure is typically associated with significant blood loss and high transfusion rates. The risks associated with transfusions are well documented and include transmission of infectious agents, bacterial contamination, acute hemolytic reactions, transfusion-related lung injury, and transfusion-related immune modulation. This study presents the Children's Hospital of Richmond (CHoR) protocol, which was developed to reduce the rate of blood transfusion in infants undergoing primary craniosynostosis repair. A retrospective chart review of pediatric patients treated between January 2003 and Febuary 2012 was performed. The CHoR protocol was instituted in November 2008, with the following 3 components; 1) the use of preoperative erythropoietin and iron therapy, 2) the use of an intraoperative blood recycling device, and 3) acceptance of a lower level of hemoglobin as a trigger for transfusion (protocol implementation served as controls. A total of 60 children were included in the study, 32 of whom were treated with the CHoR protocol. The control (C) and protocol (P) groups were comparable with respect to patient age (7 vs 8.4 months, p = 0.145). Recombinant erythropoietin effectively raised the mean preoperative hemoglobin level in the P group (12 vs 9.7 g/dl, p protocol that includes preoperative administration of recombinant erythropoietin, intraoperative autologous blood recycling, and accepting a lower transfusion trigger significantly decreased transfusion utilization (p < 0.001). A decreased length of stay (p < 0.001) was seen, although the authors did not investigate whether composite transfusion complication reductions led to better outcomes.

  11. Pedicle subtraction osteotomy in elderly patients with degenerative sagittal imbalance.

    Science.gov (United States)

    Cho, Kyu-Jung; Kim, Ki-Tack; Kim, Whoan-Jeang; Lee, Sang-Hoon; Jung, Jae-Hoon; Kim, Young-Tae; Park, Hae-Bong

    2013-11-15

    Retrospective, radiographical analysis. To evaluate pedicle subtraction osteotomy (PSO) as a means of correcting severe degenerative sagittal imbalance in elderly patients. PSO in patients with degenerative sagittal imbalance is likely to cause more complications than in patients with iatrogenic flatback deformity. This study analyzed 34 patients who underwent fusion to the sacrum, with a minimum 2-year follow-up. Age of the patients were in the range from 58 to 73 with the mean at 65.5 years. PSO was performed at one segment in all cases, consisting of L3 (n = 26), L4 (n = 4), L2 (n = 3), and L1 (n = 1). The average number of levels fused was 8.15. Ten patients had structural interbody fusion at the lumbosacral junction. Applying PSO at one segment, the mean correction of the lordotic angle at the osteotomy site was 33.3°, of which the loss of correction (LOC) was 4.0° at the last visit. The correction of lumbar lordosis was 33.7° and the LOC was 8.5°. The sagittal C7 plumb was 215.9 mm before surgery, corrected to 35.1 mm after surgery, and changed to 95.9 mm by the last visit. The correction of the sagittal C7 plumb was 119.9 mm and the LOC was 60.9 mm. There was substantial LOC in lumbar lordosis and sagittal C7 plumb. In 10 patients with addition of posterior lumbar interbody fusion, the LOC of lumbar lordosis was 7.4°, which was less than 9° in those without it. PSO for the correction of degenerative sagittal imbalance in elderly patients resulted in correction of sagittal alignment with a significant LOC of lumbar lordosis and sagittal C7 plumb. The LOC of lumbar lordosis occurred at both the osteotomy and non-osteotomy site. The addition of anterior column support is helpful to maintain correction and reduce complications. N/A.

  12. Walking sagittal balance correction by pedicle subtraction osteotomy in adults with fixed sagittal imbalance.

    Science.gov (United States)

    Yagi, Mitsuru; Kaneko, Shinjiro; Yato, Yoshiyuki; Asazuma, Takashi; Machida, Masafumi

    2016-08-01

    Pedicle subtraction osteotomy (PSO) is widely used to treat severe fixed sagittal imbalance. However, the effect of PSO on balance has not been fully documented. The aim of this study was to assess dynamic walking balance after PSO to treat fixed sagittal imbalance. Gait and balance were assessed in 15 consecutive adult female patients who had been treated by PSO for a fixed sagittal imbalance and compare patients' preop and postop dynamic walking balance with that of 15 age- and gender-matched healthy volunteers (HV). Each patient's chart, X-rays, pre and postop SRS22 outcome scores, and ODI were reviewed. Means were compared by Mann-Whitney U test and Chi-square test. The mean age was 66.3 years (51-74 years). The mean follow-up was 2.7 years (2-3.5 years). The C7PL and GL, measured on the force platform, were both improved from 24.2 ± 7.3 cm and 27.6 ± 9.4 to 5.4 ± 2.6 cm and 7.2 ± 3.4 cm, respectively. The baseline hip ROM was significantly smaller in patients compared to HV, whereas no significant difference was observed in the knee or ankle ROM. The pelvic tilt (preop -0.4° ± 1.4°, postop 8.9° ± 1.0°), and maximum hip-extension angle (preop -1.2° ± 14.2°, postop -11.2° ± 7.2°) were also improved after surgery. Cadence (116 s/min), stance-swing ratio (stance 63.2 % vs. swing 36.8 %), and stride (98.0 cm) were all increased after surgery. On the other hand, gait velocity was significantly slower in the PSO group at both pre and postop than in HV (PSO 53.3 m/min at preop and 58.8 m/min at postop vs. HV 71.1 m/min, p = 0.04). Despite a mild residual spinal-pelvic malalignment, PSO restored sagittal alignment and balance satisfactorily and has improved the gait pattern.

  13. Supernumerary teeth in non-syndromic patients

    International Nuclear Information System (INIS)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-01-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  14. Corrected Cephalometric Analysis to Determine the Distance and Vector of Distraction Osteogenesis for Syndromic Craniosynostosis

    Science.gov (United States)

    Fukawa, Toshihiko; Hirakawa, Takashi; Satake, Toshihiko; Maegawa, Jiro

    2017-01-01

    Background: The purpose of this study was to confirm the utility of a corrected cephalometric analysis to facilitate the planning of distraction osteogenesis with Le Fort III osteotomy for syndromic craniosynostosis. Methods: This prospective study involved 4 male and 2 female patients (mean patient age, 8 years 9 months; age range, 4 years 6 months to 13 years 2 months) with Crouzon syndrome who were treated with Le Fort III maxillary distraction using our previously described system of analysis of a corrected cephalogram and who underwent clinical follow-up. Lateral cephalograms were obtained immediately after device removal. Results: Distraction of orbitale moved the vector downward to the adult profile, but there was slightly less elongation than the adult profile for the distraction distance. The desired and real mean angles after distraction of point A were 29.2 ± 7.9° and 6.1 ± 8.5°, respectively, and the desired and the real mean distances after distraction of point A were 30.6 ± 12.7 mm and 29.4 ± 4.1 mm, respectively. Conclusions: Using the corrected cephalometric analysis, the distance and vector of distraction osteogenesis with Le Fort III osteotomy could be determined in patients with syndromic craniosynostosis. The distraction system brought the patients' facial bones to the planned position using controlling devices. PMID:29062650

  15. Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.

    Science.gov (United States)

    Klopocki, Eva; Lohan, Silke; Brancati, Francesco; Koll, Randi; Brehm, Anja; Seemann, Petra; Dathe, Katarina; Stricker, Sigmar; Hecht, Jochen; Bosse, Kristin; Betz, Regina C; Garaci, Francesco Giuseppe; Dallapiccola, Bruno; Jain, Mahim; Muenke, Maximilian; Ng, Vivian C W; Chan, Wilson; Chan, Danny; Mundlos, Stefan

    2011-01-07

    Indian hedgehog (IHH) is a secreted signaling molecule of the hedgehog family known to play important roles in the regulation of chondrocyte differentiation, cortical bone formation, and the development of joints. Here, we describe that copy-number variations of the IHH locus involving conserved noncoding elements (CNEs) are associated with syndactyly and craniosynostosis. These CNEs are able to drive reporter gene expression in a pattern highly similar to wild-type Ihh expression. We postulate that the observed duplications lead to a misexpression and/or overexpression of IHH and by this affect the complex regulatory signaling network during digit and skull development.

  16. Prevalence of Dental Anomalies in Patients With Nonsyndromic Cleft Lip and/or Palate in a Brazilian Population.

    Science.gov (United States)

    Paranaiba, Lívia Máris Ribeiro; Coletta, Ricardo D; Swerts, Mário Sérgio Oliveira; Quintino, Rafaela Pacífico; de Barros, Letízia Monteiro; Martelli-Júnior, Hercílio

    2013-07-01

    Objective : Many studies have demonstrated a high frequency of dental anomalies in patients with cleft lip and/or palate. Because dental anomalies may complicate dental treatment, we investigated the prevalence of dental anomalies in a group of Brazilian patients with nonsyndromic cleft lip and/or palate. Design, Participants, Setting : Retrospective analysis was performed using clinical records of 296 patients aged between 12 and 30 years with repaired nonsyndromic cleft lip and/or palate without history of tooth extraction and orthodontic treatment. Associations between oral clefts and presence of dental anomalies outside the cleft area were investigated. Results : Dental anomalies were identified in 39.9% of the nonsyndromic cleft lip and/or palate patients, and tooth agenesis (47.5%), impacted tooth (13.1%), and microdontia (12.7%) were the most common anomalies. Cleft lip patients were less affected by dental anomalies compared with cleft palate or cleft lip and palate patients (p  =  .057). Specifically, patients with unilateral cleft lip and palate were significantly more affected by dental anomalies than those with bilateral cleft lip and palate (p  =  .00002), and individuals with unilateral complete cleft lip and palate (p  =  .002) and complete cleft palate (p  =  .01) were significantly more affected by tooth agenesis than other cleft types. Agenesis of the premolars (p  =  .043) and maxillary lateral incisors (p  =  .03) were significantly more frequent in patients with unilateral complete cleft lip and palate. Conclusions : The present study revealed a high frequency of dental anomalies in nonsyndromic cleft lip and/or palate patients and further demonstrated that patients with unilateral cleft lip and palate were frequently more affected by dental anomalies than those with bilateral cleft lip and palate. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning for

  17. Lenke 1 and 5: changes in sagittal balance

    Directory of Open Access Journals (Sweden)

    Delson Valdemir Pessin

    2014-09-01

    Full Text Available OBJECTIVE: To assess in a cross-sectional study whether there are changes in sagittal balance in patients with adolescent idiopathic scoliosis Lenke types 1 and 5 compared with patients without pathology of the spine and compare the values of the parameters of normal subjects with the parameters found in the literature. METHODS: We measured the values of the parameters of sagittal balance of 21 patients with scoliosis and 14 patients without scoliosis in panoramic radiographs or simply collected data previously measured from the medical records. We compared the mean values of normal subjects, the mean values found in the literature, and the means between normal subjects and patients with scoliosis. For this, we used the Student t test. RESULTS: Using a confidence interval of 5% (p < 0.05 and the Student t test we obtained statistical significance in the comparison of two parameters of sagittal balance between normal subjects and patients with scoliosis. We observed similarities in the measurements of the average parameters of normal subjects with regard to the work already published. CONCLUSIONS: The adolescent idiopathic scoliosis causes changes in two parameters of sagittal balance with statistical significance but suggests changes in all other parameters. As for comparison with previously published work, the results were similar.

  18. Molecular Analysis of Gli3, Ihh, Rab23, and Jag1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin.

    Science.gov (United States)

    Gilbert, James R; Taylor, Gwen M; Losee, Joseph E; Mooney, Mark P; Cooper, Gregory M

    2018-03-01

    Craniosynostosis (CS) involves the premature fusion of one or more cranial sutures. The etiology of CS is complex and mutations in more than 50 distinct genes have been causally linked to the disorder. Many of the genes that have been associated with CS in humans play an essential role in tissue patterning and early craniofacial development. Among these genes are members of the Hedgehog (HH) and Notch signal transduction pathways, including the GLI family member Gli3, Indian Hedgehog ( Ihh), the RAS oncogene family member Rab23, and the Notch ligand JAGGED1 ( Jag1). We have previously described a colony of rabbits with a heritable pattern of coronal suture synostosis, although the genetic basis for synostosis within this model remains unknown. The present study was performed to determine if coding errors in Gli3, Ihh, Rab23, or Jag1 could be causally linked to craniosynostosis in this unique animal model. Sequencing of cDNA templates was performed using samples obtained from wild-type and craniosynostotic rabbits. Several nucleotide polymorphisms were identified in Gli3, Ihh, and Rab23, although these variants failed to segregate by phenotype. No nucleotide polymorphisms were identified in Jag1. These data indicate that the causal locus for heritable craniosynostosis in this rabbit model is not located within the protein coding regions of Gli3, Ihh, Rab23, or Jag1.

  19. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  20. MRI Findings in 77 Children with Non-Syndromic Autistic Disorder

    Science.gov (United States)

    Boddaert, Nathalie; Zilbovicius, Mônica; Philipe, Anne; Robel, Laurence; Bourgeois, Marie; Barthélemy, Catherine; Seidenwurm, David; Meresse, Isabelle; Laurier, Laurence; Desguerre, Isabelle; Bahi-Buisson, Nadia; Brunelle, Francis; Munnich, Arnold; Samson, Yves; Mouren, Marie-Christine; Chabane, Nadia

    2009-01-01

    Background The clinical relevance of MR scanning in children with autism is still an open question and must be considered in light of the evolution of this technology. MRI was judged to be of insufficient value to be included in the standard clinical evaluation of autism according to the guidelines of the American Academy of Neurology and Child Neurology Society in 2000 [1]. However, this statement was based on results obtained from small samples of patients and, more importantly, included mostly insufficient MRI sequences. Our main objective was to evaluate the prevalence of brain abnormalities in a large group of children with a non-syndromic autistic disorder (AD) using T1, T2 and FLAIR MRI sequences. Methodology MRI inspection of 77 children and adolescents with non-syndromic AD (mean age 7.4±3.6) was performed. All met the DSM-IV and ADI –R criteria for autism. Based on recommended clinical and biological screenings, we excluded patients with infectious, metabolic or genetic diseases, seizures or any other neurological symptoms. Identical MRI inspections of 77 children (mean age 7.0±4.2) without AD, developmental or neurological disorders were also performed. All MRIs were acquired with a 1.5-T Signa GE (3-D T1-FSPGR, T2, FLAIR coronal and axial sequences). Two neuroradiologists independently inspected cortical and sub-cortical regions. MRIs were reported to be normal, abnormal or uninterpretable. Principal Findings MRIs were judged as uninterpretable in 10% (8/77) of the cases. In 48% of the children (33/69 patients), abnormalities were reported. Three predominant abnormalities were observed, including white matter signal abnormalities (19/69), major dilated Virchow–Robin spaces (12/69) and temporal lobe abnormalities (20/69). In all, 52% of the MRIs were interpreted as normal (36/69 patients). Conclusions An unexpectedly high rate of MRI abnormalities was found in the first large series of clinical MRI investigations in non-syndromic autism. These

  1. Language, learning, and memory in children with and without single-suture craniosynostosis.

    Science.gov (United States)

    Kapp-Simon, Kathleen A; Wallace, Erin; Collett, Brent R; Cradock, Mary Michaeleen; Crerand, Canice E; Speltz, Matthew L

    2016-05-01

    OBJECTIVE The language and memory functions of children with and without single-suture craniosynostosis (SSC) were compared at school age (mean 7.45 years, standard deviation [SD] 0.54 years). The children in this cohort were originally recruited in infancy and prior to cranial surgery for those with SSC. METHODS Individual evaluations of 179 school-aged children with SSC and 183 controls were conducted (70% of the original cohort) using standardized measures of language, learning, and memory. Parents participated in an interview about specialized education interventions and school progress. Parents and teachers completed questionnaires about language development. RESULTS Children with SSC (cases) obtained lower scores than controls on all measures. The adjusted differences in language, learning, and memory scores were modest, with SD ranging from 0.0 to -0.4 (p values ranged from 0.001 to 0.99). Censored normal regression was used to account for intervention services received prior to the school-age evaluation; this increased case-control differences (SD range 0.1 to -0.5, p value range 0.001 to 0.50). Mean scores for cases in each SSC diagnostic group were lower than those for controls, with the greatest differences observed among children with unilateral coronal craniosynostosis. CONCLUSIONS Children with SSC continue to show poorer performance than controls on language, learning, and memory tasks at early elementary school age, even when controlling for known confounders, although mean differences are small. Multidisciplinary care, including direct psychological assessment, for children with SSC should extend through school age with a specific focus on language and conceptual learning, as these are areas of potential risk. Future research is needed to investigate language, memory, and learning for this population during the middle to high school years.

  2. Supernumerary teeth in non-syndromic patients

    Energy Technology Data Exchange (ETDEWEB)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh [Nair Hospital Dental College, Maharashtra (India)

    2012-03-15

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  3. Direct coronary and sagittal computerized tomography of the pelvis

    International Nuclear Information System (INIS)

    Maier, W.; Bargon, G.

    1981-01-01

    Whereas quite a number of reports have been published on direct coronary and sagittal computed tomography of the cranium, no extensive experience has been collected on multidimensional computerized tomography of the pelvis. In this article, the authors report on their preliminary experiences in direct approximately sagittal and coronary computerized tomography of the pelvis in a group of 76 patients. (orig.) [de

  4. Spinal Schmorl's nodes: Sagittal sectional imaging and pathological examination

    International Nuclear Information System (INIS)

    Silberstein, M.; Opeskin, K.

    1999-01-01

    The presence, location and number of Schmorl's nodes was determined in the thoracolumbar spines of 70 motor vehicle accident victims using radiographic examination of a midline sagittal section and subsequent pathological examinations, including histology. In 28% of spines, a greater number of Schmorl's nodes were identified with radiography, while in 44%, pathological examination revealed a greater number of nodes. The visibility of Schmorl's nodes was enhanced by using a sagittal radiographic approach, and, in contrast to previous work, nodes below 0.5 cm 2 were readily detected. The results of the present study offer an additional imaging technique for postmortem analysis of the spine, and support the use of sagittal MR imaging for the evaluation of this condition. Copyright (1999) Blackwell Science Pty Ltd

  5. Dedicated sub 0.1 mSv 3DCT using MBIR in children with suspected craniosynostosis: quality assessment

    Energy Technology Data Exchange (ETDEWEB)

    Ernst, Caroline W.; Hulstaert, Tine L.; Belsack, Dries; Buls, Nico; Gompel, Gert van; Nieboer, Koenraad H.; Verhelle, Filip; Maeseneer, Michel de; Mey, Johan de [Universitair Ziekenhuis Brussel, Department of Radiology, Brussels (Belgium); Buyl, Ronald [Vrije Universiteit Brussel, Department of Biomedical Statistics and Informatics, Brussels (Belgium)

    2016-03-15

    To retrospectively compare image quality of a lowered dose CT protocol to a standard CT protocol in children with suspicion of craniosynostosis. Forty-eight patients (age 0- 35 months), who presented with a cranial deformity underwent cranial 3D CT to assess sutural patency: between 2009 - 2010, 24 patients were imaged with a standard protocol (CTDIvol 32.18 mGy), from 2011-2012, 24 underwent a low dose protocol (0.94 mGy) combined with iterative reconstruction. Image quality was evaluated by both expert reading and objective analysis. Differences were assessed by independent t-test and Mann-Whitney U test, interreader agreement by Cohen's Kappa test. Effective dose of the low dose protocol was 0.08 mSv, corresponding to a reduction of 97 %. Image quality was similar in both groups in terms of overall diagnostic acceptability, objective noise measurements, subjective cranial bone edge sharpness and presence of artefacts. For objective sharpness of cranial bone-brain interface and subjective perception of noise, the images of the low dose protocol were superior. For all evaluated structures, interreader agreement was moderate to almost perfect. In the diagnosis of craniosynostosis in children with cranial deformities, a dedicated sub 0.1 mSv cranial 3DCT protocol can be used without loss in image quality. (orig.)

  6. GJB2 and mitochondrial A1555G gene mutations in nonsyndromic ...

    Indian Academy of Sciences (India)

    GJB2 mutations in 21.4% of the families in this country. (Bayazit et al. 2003). In this study, GJB2 gene mutations were responsible for 14.7% of genetic nonsyndromic hear- ing losses and 12.5% of the familial cases. These results are lower than in the previous reports where the patient selec- tion criteria may play a role.

  7. Lower incidence of nonsyndromic cleft lip with or without cleft palate ...

    Indian Academy of Sciences (India)

    2016-08-26

    Aug 26, 2016 ... In India, as in other parts of the world, nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a highly prevalent birth defect, its incidence in males being twice that in females. A case–control association study has been carried out with respect to homocysteine level and MTHFR C677T, A1298C and ...

  8. Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

    Science.gov (United States)

    Sharon, Dror; Banin, Eyal

    2015-01-01

    Nonsyndromic retinitis pigmentosa (RP) is the most common inherited retinal degeneration, and prevalence of the disease has been reported in populations of American and European origin with a relatively low consanguinity rate. Our aim was to determine the prevalence of nonsyndromic RP in the Jerusalem region, which has a population of about 1 million individuals with a high rate of consanguinity. The patients' clinical data included eye exam findings (visual acuity, anterior segment, and funduscopy) as well as electroretinographic (ERG) testing results under scotopic and photopic conditions. Mutation analysis on a subgroup of patients was performed mainly with candidate gene analysis and homozygosity mapping. We evaluated the medical records of patients with degenerative retinal diseases residing in the Jerusalem region who were examined over the past 20 years in a large tertiary medical center. A total of 453 individuals affected with nonsyndromic RP were diagnosed at our center, according to funduscopic findings and ERG testing. Based on the estimated population size of 945,000 individuals who reside in the vicinity of Jerusalem, the prevalence of nonsyndromic RP in this region is 1:2,086. The prevalence of RP was higher among Arab Muslims (1:1,798) compared to Jews (1:2,230), mainly due to consanguineous marriages that are more common in the Arab Muslim population. To identify the genetic causes of RP in our cohort, we recruited 383 patients from 183 different families for genetic analysis: 70 with autosomal recessive (AR) inheritance, 15 with autosomal dominant, 86 isolate cases, and 12 with an X-linked inheritance pattern. In 64 (35%) of the families, we identified the genetic cause of the disease, and we revised the inheritance pattern of 20 isolate cases to the AR pattern; 49% of the families in our cohort had AR inheritance. Interestingly, in 42 (66%) of the genetically identified families, the cause of disease was a founder mutation. Previous studies

  9. Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID

    Directory of Open Access Journals (Sweden)

    Saleha Shamim

    2017-05-01

    Full Text Available Intellectual disability (ID is a neurodevelopmental disorder which appears frequently as the result of genetic mutations and may be syndromic (S-ID or non-syndromic (NS-ID. ID causes an important economic burden, for patient's family, health systems, and society. Identifying genes that cause S-ID can easily be evaluated due to the clinical symptoms or physical anomalies. However, in the case of NS-ID due to the absence of co-morbid features, the latest molecular genetic techniques can be used to understand the genetic defects that underlie it. Recent studies have shown that non-syndromic autosomal recessive (NS-ARID is extremely heterogeneous and contributes much more than X-linked ID. However, very little is known about the genes and loci involved in NS-ARID relative to X-linked ID, and whose complete genetic etiology remains obscure. In this review article, the known genetic etiology of NS-ARID and possible relationships between genes and the associated molecular pathways of their encoded proteins has been reviewed which will enhance our understanding about the underlying genes and mechanisms in NS-ARID.

  10. Influence of implant rod curvature on sagittal correction of scoliosis deformity.

    Science.gov (United States)

    Salmingo, Remel Alingalan; Tadano, Shigeru; Abe, Yuichiro; Ito, Manabu

    2014-08-01

    Deformation of in vivo-implanted rods could alter the scoliosis sagittal correction. To our knowledge, no previous authors have investigated the influence of implanted-rod deformation on the sagittal deformity correction during scoliosis surgery. To analyze the changes of the implant rod's angle of curvature during surgery and establish its influence on sagittal correction of scoliosis deformity. A retrospective analysis of the preoperative and postoperative implant rod geometry and angle of curvature was conducted. Twenty adolescent idiopathic scoliosis patients underwent surgery. Average age at the time of operation was 14 years. The preoperative and postoperative implant rod angle of curvature expressed in degrees was obtained for each patient. Two implant rods were attached to the concave and convex side of the spinal deformity. The preoperative implant rod geometry was measured before surgical implantation. The postoperative implant rod geometry after surgery was measured by computed tomography. The implant rod angle of curvature at the sagittal plane was obtained from the implant rod geometry. The angle of curvature between the implant rod extreme ends was measured before implantation and after surgery. The sagittal curvature between the corresponding spinal levels of healthy adolescents obtained by previous studies was compared with the implant rod angle of curvature to evaluate the sagittal curve correction. The difference between the postoperative implant rod angle of curvature and normal spine sagittal curvature of the corresponding instrumented level was used to evaluate over or under correction of the sagittal deformity. The implant rods at the concave side of deformity of all patients were significantly deformed after surgery. The average degree of rod deformation Δθ at the concave and convex sides was 15.8° and 1.6°, respectively. The average preoperative and postoperative implant rod angle of curvature at the concave side was 33.6° and 17.8

  11. Superior sagittal sinus thrombosis: a rare complication of nephrotic syndrome.

    Directory of Open Access Journals (Sweden)

    Tullu M

    1999-10-01

    Full Text Available A two and half year-old-male child, known case of steroid responsive nephrotic syndrome presented with fever and vomiting of acute onset. He was diagnosed to have superior sagittal sinus thrombosis on a contrast computerised tomographic scan of brain. Recovery was complete without anticoagulant therapy. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome.

  12. Reproduction of superior sagittal sinus animal model by bypass transplantation of biomaterial graft

    Directory of Open Access Journals (Sweden)

    Qing-yong LUO

    2011-03-01

    Full Text Available Objective To establish the beagles model of superior sagittal sinus bypass graft,and explore the feasibility of reconstruction of superior sagittal sinus with biomaterials using this model.Methods Eight adult male beagles(weight: 12.5-22.0kg were involved in the present study.The superior sagittal sinus was exposed and blocked via bone window,and then anastomosed side-to-end to the biomaterial graft under the dedicated microscope of neurosurgery surgery,expectant treatment such as anti-inflammatory was given for the animals.The digital subtraction venography(DSV and color Doppler flow imaging(CDFI of superior sagittal sinus were performed in 1,2,4 and 8 weeks after the operation.Eight weeks after the operation,all the animals were sacrificed and the material graft was examined histologically.Results The DSV and CDFI of superior sagittal sinus showed that the stomas of 2 beagles were with slight stenosis and high flow velocity,of 1 beagle with small leakage and low flow velocity,while of other 5 beagles were normal.The histological examination showed endothelial cells were growing on the graft and superior sagittal sinus,and crawling toward the lumen of graft 8 weeks after the operation.Conclusion The beagles model of superior sagittal sinus bypass graft was established successfully.The short-term effect of the model was satisfactory,while further work should be performed to determine the long-term effects.

  13. Unusual bilateral dentigerous cysts in a nonsyndromic patient assessed by cone beam computed tomography

    Directory of Open Access Journals (Sweden)

    Thais Sumie Imada

    2014-01-01

    Full Text Available In the absence of syndromes, bilateral dentigerous cysts (DC located on the jaws are unusual. In English based language literature review, we only found eight reports of nonsyndromic bilateral dentigerous cyst associated with mandibular third molars. Therefore, we report the unusual occurrence of sizable nonsyndromic bilateral DC associated with mandibular impacted third molars in a 42-year-old Caucasian woman. The lesions were assessed by cone beam computed tomography (CBCT the right lesion showed approximately 23.64 mm and the left one, 16.57 mm diameter, both located intimately next to the mandibular canal. Bilateral surgical enucleation, related teeth excision of both third molars and plate for fixation placement on the right and bigger lesion, under general anesthesia was the final treatment choice. Clinical, radiographic and histopathological features confirmed diagnose of bilateral dentigerous cyst. Now-a-days, the patient is on 18 months radiograph follow-up with favorable osseous formation with no evidence of recurrence of the cysts.

  14. Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate - A Danish registry study

    Energy Technology Data Exchange (ETDEWEB)

    Christensen, K. [Aarhus Univ. (Denmark)]|[Odense Univ. Medical School (Denmark); Mitchell, L.E. [Aarhus Univ. (Denmark)]|[St. Louis Univ. School of Public Health, MO (United States)

    1996-01-01

    The finding of an association between genetic variation at the transforming growth-factor alpha (TGFA) locus and nonsyndromic isolated cleft palate (CP) represents a potentially important breakthrough in our understanding of this condition. The present study was undertaken to assess the feasibility of detecting linkage to putative CP-susceptibility loci, such as TGFA. To this end, the familial recurrence pattern for CP was evaluated to determine the most likely mode of inheritance for this condition. The study took advantage of the high ascertainment and uniform registration of CP in Denmark. In addition, the study utilized estimates of familial recurrence that were obtained by register linkage and, hence, were not subject to either recall bias or the potentially biasing influence of nonresponders. The recurrence risks for first-, second-, and third-degree relatives of 1,364 nonsyndromic CP probands were estimated to be 2.74% (72/2,628), 0.28% (3/1,068), and 0.00% (0/360), respectively. These estimates are close to published estimates based on questionnaire and interview data. The population prevalence for nonsyndromic CP was, however, found to be considerable higher than usually reported (0.058% [1,456/2,523,023]). Analyses of these and previously published data, using the method presented by Risch, indicated that major-locus or additive multilocus inheritance of CP is unlikely. The familial recurrence pattern was, however, consistent with CP being determined by several interacting loci. Under such a model, a single locus accounting for more than a sixfold increase in the risk to first-degree relatives of CP probands is unlikely, whereas a single locus accounting for a threefold increase provided a good fit to the data. Such a locus could be detected in a realistic sample of affected sib pairs. 26 refs., 3 tabs.

  15. Mid-sagittal plane and mid-sagittal surface optimization in brain MRI using a local symmetry measure

    DEFF Research Database (Denmark)

    Stegmann, Mikkel Bille; Skoglund, Karl; Ryberg, Charlotte

    2005-01-01

    , the mid-sagittal plane is not always planar, but a curved surface resulting in poor partitioning of the brain hemispheres. To account for this, this paper also investigates an optimization strategy which fits a thin-plate spline surface to the brain data using a robust least median of squares estimator...

  16. Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A

    Energy Technology Data Exchange (ETDEWEB)

    Hecht, J.T.; Yaping Wang; Connor, B.; Daiger, S.P. (Univ. of Texas, Houston (United States)); Blanton, S.H. (Univ. of Texas, Houston (United States) Univ. of Virginia, Charlottesville (United States))

    1993-06-01

    Nonsyndromic cleft lip with or without cleft palate (CLP) is a common craniofacial anomaly, the etiology of which is not known. Population studies have shown that a large proportion of cases occur sporadically. Recently, segregation analyses applied to CLP families have demonstrated that an autosomal dominant/codominant gene(s) may cause clefting in cases. Associations of autosomal dominant CLP and nonsyndromic cleft palate (CP) with HLA and F13A genes on chromosome 6p have been suggested previously. Linkage to these two areas on chromosome 6p were tested in 12 autosomal dominant families with CLP. With a LOD score of [minus]2 or less for exclusion, no evidence of linkage was found to four chromosome 6p markers. Multipoint analysis showed no evidence of a clefting locus in this region spanning 54 cM on chromosome 6p in these CLP families. 30 refs., 2 figs., 1 tab.

  17. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

    Science.gov (United States)

    Yu, Yongguo; Yao, RuEn; Wang, Lili; Fan, Yanjie; Huang, Xiaodong; Hirschhorn, Joel; Dauber, Andrew; Shen, Yiping

    2015-09-16

    Human height is a complex trait with a strong genetic basis. Recently, a significant association between rare copy number variations (CNVs) and short stature has been identified, and candidate genes in these rare CNVs are being explored. This study aims to evaluate the association between mutations in ARID1B gene and short stature, both the syndromic and non-syndromic form. Based on a case-control study of whole genome chromosome microarray analysis (CMA), three overlapping CNVs were identified in patients with developmental disorders who exhibited short stature. ARID1B, a causal gene for Coffin Siris syndrome, is the only gene encompassed by all three CNVs. A following retrospective genotype-phenotype analysis based on a literature review confirmed that short stature is a frequent feature in those Coffin-Siris syndrome patients with ARID1B mutations. Mutation screening of ARID1B coding regions was further conducted in a cohort of 48 non-syndromic short stature patients,andfour novel missense variants including two de novo mutations were found. These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature. This study supports the notion that mutations in genes related to syndromic short stature may exert milder effect and contribute to short stature in the general population.

  18. The Ptch1DL mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome associated skeletal defects

    OpenAIRE

    Feng, Weiguo; Choi, Irene; Clouthier, David E.; Niswander, Lee; Williams, Trevor

    2013-01-01

    Mouse models provide valuable opportunities for probing the underlying pathology of human birth defects. Employing an ENU-based screen for recessive mutations affecting craniofacial anatomy we isolated a mouse strain, Dogface-like (DL), with abnormal skull and snout morphology. Examination of the skull indicated that these mice developed craniosynostosis of the lambdoid suture. Further analysis revealed skeletal defects related to the pathology of basal cell nevus syndrome (BCNS) including de...

  19. Sagittal synostosis: I. Preoperative morphology of the skull

    DEFF Research Database (Denmark)

    Guimaraes-Ferreira, J.; Gewalli, F.; David, L.

    2006-01-01

    The aim of this study was to characterise the preoperative morphology of the skull in sagittal synostosis in an objective and quantified way. The shapes of the skulls of 105 patients with isolated premature synostosis of the sagittal suture ( SS group) were studied and compared with those......, skull base, and orbit ( 42 in the lateral and 46 in the frontal projections), the production of plots of mean shape for each group, and the intergroup comparison of a series of 81 variables ( linear distance between selected landmarks, and angles defined by groups of three landmarks). Data from...... skull width. Comparison of the mean values of an SS subgroup to age-matched normative data showed a longer (p differ significantly...

  20. Training intensity and sagittal curvature of the spine in male and female artistic gymnasts.

    Science.gov (United States)

    Sanz-Mengibar, Jose M; Sainz-de-Baranda, Pilar; Santonja-Medina, Fernando

    2018-04-01

    Specific adaptations of the spine in the sagittal plane have been described according to different sports disciplines. The goal of this study was to describe the integrative diagnosis of the sagittal morphotype of the spine in male and female artistic gymnasts. Forty-eight gymnasts were measured with an inclinometer. Thoracic and lumbar curves were quantified in standing position, in Sit and Reach and Slump Sitting in order to assess the sagittal spine posture and analyze if adaptations were related to training intensity. Correlation values of the sagittal plane spine measurements showed significantly increased thoracic kyphosis in men (-0.445, Partistic gymnastics; however, this sport seems to cause specific adaptations in postural hypolordosis, functional thoracic kyphosis and lumbar kyphotic attitude during sitting and trunk flexion. The implications of the functional adaptations observed in our results may require a preventive intervention in male and female artistic gymnasts can be assessed with the integrative diagnosis of the sagittal morphotype of the spine.

  1. Sagittal imbalance in patients with lumbar spinal stenosis and outcomes after simple decompression surgery.

    Science.gov (United States)

    Shin, E Kyung; Kim, Chi Heon; Chung, Chun Kee; Choi, Yunhee; Yim, Dahae; Jung, Whei; Park, Sung Bae; Moon, Jung Hyeon; Heo, Won; Kim, Sung-Mi

    2017-02-01

    Lumbar spinal stenosis (LSS) is the most common lumbar degenerative disease, and sagittal imbalance is uncommon. Forward-bending posture, which is primarily caused by buckling of the ligamentum flavum, may be improved via simple decompression surgery. The objectives of this study were to identify the risk factors for sagittal imbalance and to describe the outcomes of simple decompression surgery. This is a retrospective nested case-control study PATIENT SAMPLE: This was a retrospective study that included 83 consecutive patients (M:F=46:37; mean age, 68.5±7.7 years) who underwent decompression surgery and a minimum of 12 months of follow-up. The primary end point was normalization of sagittal imbalance after decompression surgery. Sagittal imbalance was defined as a C7 sagittal vertical axis (SVA) ≥40 mm on a 36-inch-long lateral whole spine radiograph. Logistic regression analysis was used to identify the risk factors for sagittal imbalance. Bilateral decompression was performed via a unilateral approach with a tubular retractor. The SVA was measured on serial radiographs performed 1, 3, 6, and 12 months postoperatively. The prognostic factors for sagittal balance recovery were determined based on various clinical and radiological parameters. Sagittal imbalance was observed in 54% (45/83) of patients, and its risk factors were old age and a large mismatch between pelvic incidence and lumbar lordosis. The 1-year normalization rate was 73% after decompression surgery, and the median time to normalization was 1 to 3 months. Patients who did not experience SVA normalization exhibited low thoracic kyphosis (hazard ratio [HR], 1.04; 95% confidence interval [CI], 1.02-1.10) (pimbalance was observed in more than 50% of LSS patients, but this imbalance was correctable via simple decompression surgery in 70% of patients. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. The Influence of Natural Head Position on the Cervical Sagittal Alignment

    Directory of Open Access Journals (Sweden)

    Kuan Wang

    2017-01-01

    Full Text Available Introduction. This study investigated the relationship between the parameters related to the natural head position and cervical segmental angles and alignment of patients with neck pain. Material and Methods. The lateral radiographs of the cervical spine were collected from 103 patients and were used to retrospectively analyze the correlation between the natural head position, cervical local sagittal angles, and alignment. Sagittal measurements were as follows: cervical curvature classification, slope of McGregor’s line (McGS, local sagittal angles (C0–C2 angle, C2–C5 angle, C5–C7 angle, and C2–C7 angle, T1 slope, center of gravity of the head to sagittal vertical axis (CG–C7 SVA, and local sagittal alignment (C0–C2 SVA and C2–C7 SVA. Results. McGS was significantly correlated to C0–C2 angle (r=0.57, C0–C2 SVA (r=−0.53, C2–C7 SVA (r=−0.28, and CG–C7 SVA (r=−0.47. CG–C7 SVA was also significantly correlated to curvature type (r=0.27, C5–C7 angle (r=−0.37, and C2–C7 angle (r=−0.39. Conclusions. A backward shift with an extended head position may accompany a relatively normal curvature of the cervical spine. The effect of posture control in relieving abnormal mechanical state of the cervical spine needs to be further confirmed by biomechanical analysis.

  3. Sagittal alignment after single cervical disc arthroplasty.

    Science.gov (United States)

    Guérin, Patrick; Obeid, Ibrahim; Gille, Olivier; Bourghli, Anouar; Luc, Stéphane; Pointillart, Vincent; Vital, Jean-Marc

    2012-02-01

    Prospective study. To analyze the sagittal balance after single-level cervical disc replacement (CDR) and range of motion (ROM). To define clinical and radiologic parameters those have a significant correlation with segmental and overall cervical curvature after CDR. Clinical outcomes and ROM after CDR with Mobi-C (LDR, Troyes, France) prosthesis have been documented in few studies. No earlier report of this prosthesis has studied correlations between static and dynamic parameters or those between static parameters and clinical outcomes. Forty patients were evaluated. Clinical outcome was assessed using the Short Form-36 questionnaire, Neck Disability Index, and a Visual Analog Scale. Spineview software (Surgiview, Paris, France) was used to investigate sagittal balance parameters and ROM. The mean follow-up was 24.3 months (range: 12 to 36 mo). Clinical outcomes were satisfactory. There was a significant improvement of Short Form-36, Neck Disability Index, and Visual Analog Scale scores. Mean ROM was 8.3 degrees preoperatively and 11.0 degrees postoperatively (P=0.013). Mean preoperative C2C7 curvature was 12.8 and 16.0 degrees at last follow-up (P=0.001). Mean preoperative functional spinal unit (FSU) angle was 2.3 and 5.3 degrees postoperatively (P<0.0001). Mean postoperative shell angle was 5.5 degrees. There was a significant correlation between postoperative C2C7 alignment and preoperative C2C7 alignment, change of C2C7 alignment, preoperative and postoperative FSU angle, and prosthesis shell angle. There was also a significant correlation between postoperative FSU angle and preoperative C2C7 alignment, preoperative FSU angle, change of FSU angle, and prosthesis shell angle. Regression analysis showed that prosthesis shell angle and preoperative FSU angle contributed significantly to postoperative FSU angle. Moreover, preoperative C2C7 alignment, preoperative FSU angle, postoperative FSU angle, and prosthesis shell angle contributed significantly to

  4. Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

    Science.gov (United States)

    DeMille, Desiree; Carlston, Colleen M; Tam, Oliver H; Palumbos, Janice C; Stalker, Heather J; Mao, Rong; Zori, Roberto T; Viskochil, David H; Park, Albert H; Carey, John C

    2018-04-01

    Connexin 26 (Cx26), encoded by the GJB2 gene, is a key protein involved in the formation of gap junctions in epithelial organs including the inner ear and palmoplantar epidermis. Pathogenic variants in GJB2 are responsible for approximately 50% of inherited sensorineural deafness. The majority of these variants are associated with autosomal recessive inheritance; however, rare reports of dominantly co-segregating variants have been published. Since we began offering GJB2 testing in 2003, only about 2% of detected GJB2 variants from our laboratory have been classified as dominant. Here we report three novel dominant GJB2 variants (p.Thr55Ala, p.Gln57_Pro58delinsHisSer, and p.Trp44Gly); two associated with syndromic sensorineural hearing loss and one with nonsyndromic hearing loss. In the kindred with the p.Thr55Ala variant, the proband and his father present with only leukonychia as a cutaneous finding of their syndromic hearing loss. This phenotype has been previously documented in conjunction with palmoplantar hyperkeratosis, but isolated leukonychia is a novel finding likely associated with the unique threonine to alanine change at codon 55 (other variants at this codon have been reported in cases of nonsyndromic hearing loss). This report contributes to the short list of GJB2 variants associated with autosomal dominant hearing loss, highlights the variability of skin and nail findings associated with such cases, and illustrates the occurrence of both syndromic and nonsyndromic presentations with changes in the same gene. © 2018 Wiley Periodicals, Inc.

  5. Strategic Considerations for Effective Sagittal Resection of the Mandible to Achieve a Slim and Attractive Jawline.

    Science.gov (United States)

    Park, Sanghoon; Lee, Tae Sung

    2018-01-01

    Sagittal resection of the mandible has been widely used to reduce the width of the lower face and is usually carried out in combination with a mandibular contouring procedure. However, the surgical outcomes of this procedure are unclear because sagittal resection is rarely performed as a single procedure. The authors clarify misunderstandings regarding this procedure and introduce an improved strategic approach for sagittal resection of the mandible. Under general anesthesia, mandible contouring was performed first with a curved osteotomy, followed by sagittal resection of the outer cortex of mandible. The amount and extent of each procedure was determined in accordance with preoperative analysis. From 2012 to 2014, a consecutive series of 212 patients who underwent mandible contouring surgery without concomitant chin surgery were included in the study. A total of 189 patients underwent both mandibular contouring surgery and sagittal resection, whereas 13 underwent only sagittal resection and 10 underwent only mandibular contouring surgery. All operations were carried out successfully without any severe complications, and most patients had satisfactory aesthetic outcomes. The authors found that the sagittal resection of the mandible should be performed in accordance with the shape of the mandible to effectively reduce facial width and achieve better aesthetic outcomes for both profile and frontal views. In an outcurved-type mandible, conventional mandibular contouring may be effective alone, whereas sagittal resection focusing on removing the mandible body region is essential for incurved-type mandibles. In straight line-type mandibles, both procedures are necessary. Therapeutic, IV.

  6. Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

    Directory of Open Access Journals (Sweden)

    Kang Dongyang

    2009-09-01

    Full Text Available Abstract Background Every year, 30,000 babies are born with congenital hearing impairment in China. The molecular etiology of hearing impairment in the Chinese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we performed a comprehensive investigation of the molecular etiology of nonsyndromic deafness in two typical areas from northern and southern China. Methods A total of 284 unrelated school children with hearing loss who attended special education schools in China were enrolled in this study, 134 from Chifeng City in Inner Mongolia and the remaining 150 from Nangtong City in JiangSu Province. Screening was performed for GJB2, GJB3, GJB6, SLC26A4, 12S rRNA, and tRNAser(UCN genes in this population. All patients with SLC26A4 mutations or variants were subjected to high-resolution temporal bone CT scan to verify the enlarged vestibular aqueduct. Results Mutations in the GJB2 gene accounted for 18.31% of the patients with nonsyndromic hearing loss, 1555A>G mutation in mitochondrial DNA accounted for 1.76%, and SLC26A4 mutations accounted for 13.73%. Almost 50% of the patients with nonsyndromic hearing loss in these typical Chinese areas carried GJB2 or SLC26A4 mutations. No significant differences in mutation spectrum or prevalence of GJB2 and SLC26A4 were found between the two areas. Conclusion In this Chinese population, 54.93% of cases with hearing loss were related to genetic factors. The GJB2 gene accounted for the etiology in about 18.31% of the patients with hearing loss, SLC26A4 accounted for about 13.73%, and mtDNA 1555A>G mutation accounted for 1.76%. Mutations in GJB3, GJB6, and mtDNA tRNAser(UCN were not common in this Chinese cohort. Conventionally, screening is performed for GJB2, SLC26A4, and mitochondrial 12S rRNA in the Chinese deaf population.

  7. IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in south Indian population.

    Science.gov (United States)

    Gurramkonda, Venkatesh Babu; Syed, Altaf Hussain; Murthy, Jyotsna; Lakkakula, Bhaskar V K S

    2017-06-26

    Transcription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development. We aimed to investigate the association of IRF6 intron-6 polymorphism in the non-syndromic cleft lip with or without Palate in a south Indian population. 173 unrelated nonsyndromic cleft lip with or without Palate patients and 176 controls without clefts patients were genotyped for IRF6 rs2235375 variant by allele-specific amplification using the KASPar single nucleotide polymorphism genotyping system. The association between interferon regulatory factor-6 gene intron-6 dbSNP208032210:g.G>C (rs2235375) single nucleotide polymorphism and non-syndromic cleft lip with or without palate risk was investigated by chi-square test. There were significant differences in genotype or allele frequencies of rs2235375 single nucleotide polymorphism between controls and cases with non-syndromic cleft lip with or without palate. IRF6 rs2235375 variant was significantly associated with increased risk of non-syndromic cleft lip with or without palate in co-dominant, dominant (OR: 1.19; 95% CI 1.03-2.51; p=0.034) and allelic models (OR: 1.40; 95% CI 1.04-1.90; p=0.028). When subset analysis was applied significantly increased risk was observed in cleft palate only group (OR dominant: 4.33; 95% CI 1.44-12.97; p=0.005). These results suggest that IRF6 rs2235375 SNP play a major role in the pathogenesis and risk of developing non-syndromic cleft lip with or without palate. Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  8. SAGITTAL DIAMETER OF FORAMEN MAGNUM IN NORMAL POPULATION: AN MRI STUDY

    OpenAIRE

    Lakshmi

    2015-01-01

    Lower position of cerebellar tonsils was frequently noticed in Western studies. In some of the studies, sagittal diameter of foramen magnum was found to be larger in cases of Chiari malformation. However, there are no Indian studies for comparison. Our study was proposed to determine the standard values for sagittal diameter of foramen magnum in various age groups and both sexes. This gives a guideline for further studies in pathological conditions like Craniovertebral Junctional ...

  9. 'Lumbar Degenerative Kyphosis' Is Not Byword for Degenerative Sagittal Imbalance: Time to Replace a Misconception.

    Science.gov (United States)

    Lee, Chang-Hyun; Chung, Chun Kee; Jang, Jee-Soo; Kim, Sung-Min; Chin, Dong-Kyu; Lee, Jung-Kil

    2017-03-01

    Lumbar degenerative kyphosis (LDK) is a subgroup of the flat-back syndrome and is most commonly caused by unique life styles, such as a prolonged crouched posture during agricultural work and performing activities of daily living on the floor. Unfortunately, LDK has been used as a byword for degenerative sagittal imbalance, and this sometimes causes confusion. The aim of this review was to evaluate the exact territory of LDK, and to introduce another appropriate term for degenerative sagittal deformity. Unlike what its name suggests, LDK does not only include sagittal balance disorder of the lumbar spine and kyphosis, but also sagittal balance disorder of the whole spine and little lordosis of the lumbar spine. Moreover, this disease is closely related to the occupation of female farmers and an outdated Asian life style. These reasons necessitate a change in the nomenclature of this disorder to prevent misunderstanding. We suggest the name "primary degenerative sagittal imbalance" (PDSI), which encompasses degenerative sagittal misalignments of unknown origin in the whole spine in older-age patients, and is associated with back muscle wasting. LDK may be regarded as a subgroup of PDSI related to an occupation in agriculture. Conservative treatments such as exercise and physiotherapy are recommended as first-line treatments for patients with PDSI, and surgical treatment is considered only if conservative treatments failed. The measurement of spinopelvic parameters for sagittal balance is important prior to deformity corrective surgery. LDK can be considered a subtype of PDSI that is more likely to occur in female farmers, and hence the use of LDK as a global term for all degenerative sagittal imbalance disorders is better avoided. To avoid confusion, we recommend PDSI as a newer, more accurate diagnostic term instead of LDK.

  10. Measuring Fractional Anisotropy of the Corpus Callosum Using Diffusion Tensor Imaging: Mid-Sagittal versus Axial Imaging Planes

    International Nuclear Information System (INIS)

    Kim, Eung Yeop; Park, Hae Jeong; Kim, Dong Hyun; Lee, Seung Koo; Kim, Jin Na

    2008-01-01

    Many diffusion tensor imaging (DTI) studies of the corpus callosum (CC) have been performed with a relatively thick slice thickness in the axial plane, which may result in underestimating the fractional anisotropy (FA) of the CC due to a partial volume effect. We hypothesized that the FA of the CC can be more accurately measured by using mid-sagittal DTI. We compared the FA values of the CC between the axial and mid-sagittal DTI. Fourteen healthy volunteers underwent MRI at 3.0 T. DTI was performed in both the mid-sagittal and axial planes. One 5-mm mid-sagittal image and twenty-five 2-mm axial images were obtained for the CC. The five regions of interest (ROIs) that included the prefrontal (I), premotor and supplementary motor (II), motor (III), sensory (IV) and parietal, temporal and occipital regions (V) were drawn along the border of the CC on each sagittal FA map. The FA values obtained from each region were compared between the two sagittal maps. The FA values of all the regions, except for region V, were significantly increased on the mid-sagittal imaging. The FA values in region IV were significantly underestimated on the mid-sagittal image from the axial imaging, compared with those in the regions I and V (p = 0.037 and p = 0.001, respectively). The FA values of the CC were significantly higher on the midsagittal DTI than those on the axial DTI in regions I-IV, and particularly in the region IV. Mid-sagittal DTI may provide more accurate FA values of the CC than can the axial DTI, and mid-sagittal DTI may be more desirable for studies that compare between patients and healthy subjects

  11. Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R

    2017-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. ...

  12. Sagittal Alignment As a Predictor of Clinical Adjacent Segment Pathology requiring Surgery after Anterior Cervical Arthrodesis

    Science.gov (United States)

    Park, Moon Soo; Kelly, Michael P.; Lee, Dong-Ho; Min, Woo-Kie; Rahman, Ra’Kerry K.; Riew, K. Daniel

    2014-01-01

    BACKGROUND CONTEXT Postoperative malalignment of the cervical spine may alter cervical spine mechanics, and put patients at risk for clinical adjacent segment pathology requiring surgery. PURPOSE To investigate whether a relationship exists between cervical spine sagittal alignment and clinical adjacent segment pathology requiring surgery (CASP-S) following anterior cervical fusion (ACF). STUDY DESIGN Retrospective matched study. PATIENT SAMPLE One hundred twenty two patients undergoing ACF from 1996 to 2008 were identified, with a minimum of 2 year follow-up. OUTCOME MEASURES Radiographs were reviewed to measure the sagittal alignment using C2 and C7 sagittal plumb lines, distance from the fusion mass plumb line to the C2 and C7 plumb lines, the alignment of the fusion mass, caudally adjacent disc angle, the sagittal slope angle of the superior endplate of the vertebra caudally adjacent to the fusion mass, T1 sagittal angle, overall cervical sagittal alignment, and curve patterns by Katsuura classification. METHODS One hundred twenty two patients undergoing ACF from 1996 to 2008 were identified, with a minimum of 1 year follow-up. Patients were divided into groups according to the development of CASP requiring surgery (Control / CASP-S) and by number/location of levels fused. Radiographs were reviewed to measure the sagittal alignment using C2 and C7 sagittal plumb lines, distance from the fusion mass plumb line to the C2 and C7 plumb lines, the alignment of the fusion mass, caudally adjacent disc angle, the sagittal slope angle of the superior endplate of the vertebra caudally adjacent to the fusion mass, T1 sagittal angle, overall cervical sagittal alignment, and curve patterns by Katsuura classification. Appropriate statistical tests were performed to calculate relationships between the variables and the development of CASP-S. No funds were received in support of this work. No benefits in any form have been or will be received from a commercial party related

  13. Comparison of accuracy of uncorrected and corrected sagittal tomography in detection of mandibular condyle erosions: An exvivo study

    Directory of Open Access Journals (Sweden)

    Asieh Zamani Naser

    2010-01-01

    Full Text Available Background: Radiographic examination of TMJ is indicated when there are clinical signs of pathological conditions, mainly bone changes that may influence the diagnosis and treatment planning. The purpose of this study was to evaluate and to compare the validity and diagnostic accuracy of uncorrected and corrected sagittal tomographic images in the detection of simulated mandibular condyle erosions. Methods : Simulated lesions were created in 10 dry mandibles using a dental round bur. Using uncorrected and corrected sagittal tomography techniques, mandibular condyles were imaged by a Cranex Tome X-ray unit before and after creating the lesions. The uncorrected and corrected tomography images were examined by two independent observers for absence or presence of a lesion. The accuracy for detecting mandibular condyle lesions was expressed as sensitivity, specificity, and validity values. Differences between the two radiographic modalities were tested by Wilcoxon for paired data tests. Inter-observer agreement was determined by Cohen′s Kappa. Results: The sensitivity, specificity and validity were 45%, 85% and 30% in uncorrected sagittal tomographic images, respectively, and 70%, 92.5% and 60% in corrected sagittal tomographic images, respectively. There was a significant statistical difference between the accuracy of uncorrected and corrected sagittal tomography in detection of mandibular condyle erosions (P = 0.016. The inter-observer agreement was slight for uncorrected sagittal tomography and moderate for corrected sagittal tomography. Conclusion: The accuracy of corrected sagittal tomography is significantly higher than that of uncorrected sagittal tomography. Therefore, corrected sagittal tomography seems to be a better modality in detection of mandibular condyle erosions.

  14. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

    DEFF Research Database (Denmark)

    Rehman, Shoaib ur; Baig, Shahid Mahmood; Eiberg, Hans

    2011-01-01

    done in all sampled individuals in the family. The nuclear central loop in the five generation family showed homozygosity for a 6-Mb telomeric region on 11p15, whereas all other linkage regions were excluded by calculation of logarithm of odds (LOD) for the SNP microarray data. A maximum LOD score of Z......Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive...

  15. Direct CT scanning of the lesser pelvis - frontal vs sagittal plane

    International Nuclear Information System (INIS)

    Khadzhigeorgiev, G.; Lichev, A.

    1994-01-01

    Whenever axial scanning alone is used, the anatomical patterns of the true pelvis and the organs contained in it, particularly in women, give rise to diagnostic difficulties during CT assessment of neoplasms originating from these organs. The high demands on precision characterization of the pathological changes in the pelvis minor organs necessitate the obtaining of reliable density and size measurement data, not merely from the axial plane, but from the frontal and sagittal ones as well. The deficient information afforded by secondary reconstruction of the pelvis mind images requires an mandatory evaluation of the potentialities of direct frontal and direct sagittal scanning of the pelvis minor using standard CT equipment. Information yielded by images from direct frontal and direct sagittal pelvis minor scanning as well as diagnostic problems where application of this type of scanning is indicated operational difficulties and their overcoming, are among the issues discussed. 8 figs., 7 refs

  16. A comparison of cephalometric analyses for assessing sagittal jaw relationship

    International Nuclear Information System (INIS)

    Erum, G.; Fida, M.

    2008-01-01

    To compare the seven methods of cephalometric analysis for assessing sagittal jaw relationship and to determine the level of agreement between them. Seven methods, describing anteroposterior jaw relationships (A-B plane, ANB, Wits, AXB, AF-BF, FABA and Beta angle) were measured on the lateral cephalographs of 85 patients. Correlation analysis, using Cramer's V-test, was performed to determine the possible agreement between the pair of analyses. The mean age of the sample, comprising 35 males and 50 females was 15 years and 3 months. Statistically significant relationships were found among seven sagittal parameters with p-value <0.001. Very strong correlation was found between AXB and AF-BF distance (r=0.924); and weak correlation between ANB and Beta angle (r=0.377). Wits appraisal showed the greatest coefficient of variability. Despite varying strengths of association, statistically significant correlations were found among seven methods for assessing sagittal jaw relationship. FABA and A-B plane may be used to predict the skeletal class in addition to the established ANB angle. (author)

  17. PARAMETERS FOR THE EVALUATION OF CERVICAL SAGITTAL BALANCE IN IDIOPATHIC SCOLIOSIS

    Directory of Open Access Journals (Sweden)

    MAURICIO COELHO LIMA

    Full Text Available ABSTRACT Objective: There are no values defined as standard in the literature for the parameters of assessment of cervical sagittal balance in patients with idiopathic scoliosis. This study describes the sagittal cervical parameters in patients with idiopathic scoliosis. Methods: Study carried out in a tertiary public hospital in patients with adolescent idiopathic scoliosis, through the evaluation of panoramic radiographs in lateral view. The Cobb method was used to evaluate cervical lordosis from C2 to C7, distance from the center of gravity (COG of the skull to C7, measurement of T1 slope, thoracic inlet angle (TIA, neck tilt, and plumb line from C7 to S1 (SVA C7-S1. A statistical analysis was performed, to demonstrate the relationship between the alignment of the thoracic spine in the sagittal plane and the cervical sagittal balance of patients with scoliosis. Results: Thirty-four patients were female (69.4% and 15 male (30.6%. The mean values for COG-C7 were 0.71 mm (median 0.8 mm/standard deviation [SD]= 0.51 mm. For Cobb C2-C7, the mean was -11.7° (median -10°/SD= 20.4°. The mean slope of T1 was 23.5° (median 25°/SD= 9.5°. The mean cervical version was 58.8° (median 60°/DP= 15.4°. The mean TIA was 81.8° (median 85°/SD= 16.7°. The mean plumb line C7-S1 was -0.28 (-0.3/SD= 1.0. Conclusion: The analysis of the results showed that the mean values for the cervical lordosis are lower than the values described as normal in the literature, suggesting a loss of sagittal cervical balance in these patients.

  18. Sagittal plane analysis of the spine and pelvis in degenerative lumbar scoliosis.

    Science.gov (United States)

    Han, Fei; Weishi, Li; Zhuoran, Sun; Qingwei, Ma; Zhongqiang, Chen

    2017-01-01

    Previous studies have reported the normative values of pelvic sagittal parameters, but no study has analyzed the sagittal spino-pelvic alignment in degenerative lumbar scoliosis (DLS) and its role in the pathogenesis. Retrospective analysis was applied to 104 patients with DLS, together with 100 cases of asymptomatic young adults as a control group and another control group consisting of 145 cases with cervical spondylosis. The coronal and sagittal parameters were measured on the anteroposterior and lateral radiograph of the whole spine in the DLS group as well as in the two control groups. Statistical analysis showed that the DLS group had a higher pelvic incidence (PI) value (50.5° ± 10.2°), than the normal control group (with PI 47.2° ± 8.8°) and the cervical spondylosis group (46.9° ± 9.1°). In DLS group, there were 38 cases (36.5%) complicated with degenerative lumbar spondylolisthesis, who had higher PI values than patients without it. Besides, the lumbar lordosis (LL) and sacral slope (SS) of DLS group were lower; the scoliosis Cobb's angle was correlated with pelvic tilt (PT); thoracic kyphosis was correlated with LL, SS, and PT; and LL was correlated with other sagittal parameters. Patients with DLS may have a higher PI, which may impact the pathogenesis of DLS. A high PI value is probably associated with the high prevalence of degenerative lumbar spondylolisthesis among DLS patients. In DLS patients, the lumbar spine maintains the ability of regulating the sagittal balance, and the regulation depends more on thoracic curve.

  19. Influence of implant rod curvature on sagittal correction of scoliosis deformity

    DEFF Research Database (Denmark)

    Salmingo, Remel A.; Tadano, Shigeru; Abe, Yuichiro

    2014-01-01

    of the implant rod’s angle of curvature during surgery and establish its influence on sagittal correction of scoliosis deformity. STUDY DESIGN: A retrospective analysis of the preoperative and postoperative implant rod geometry and angle of curvature was conducted. PATIENT SAMPLE: Twenty adolescent idiopathic......BACKGROUND CONTEXT: Deformation of in vivo–implanted rods could alter the scoliosis sagittal correction. To our knowledge, no previous authors have investigated the influence of implanted-rod deformation on the sagittal deformity correction during scoliosis surgery. PURPOSE: To analyze the changes...... scoliosis patients underwent surgery. Average age at the time of operation was 14 years. OUTCOME MEASURES: The preoperative and postoperative implant rod angle of curvature expressed in degrees was obtained for each patient. METHODS: Two implant rods were attached to the concave and convex side...

  20. A case report of two male siblings with autism and duplication of Xq13-q21, a region including three genes predisposing for autism.

    Science.gov (United States)

    Wentz, Elisabet; Vujic, Mihailo; Kärrstedt, Ewa-Lotta; Erlandsson, Anna; Gillberg, Christopher

    2014-05-01

    Autism spectrum disorder, severe behaviour problems and duplication of the Xq12 to Xq13 region have recently been described in three male relatives. To describe the psychiatric comorbidity and dysmorphic features, including craniosynostosis, of two male siblings with autism and duplication of the Xq13 to Xq21 region, and attempt to narrow down the number of duplicated genes proposed to be leading to global developmental delay and autism. We performed DNA sequencing of certain exons of the TWIST1 gene, the FGFR2 gene and the FGFR3 gene. We also performed microarray analysis of the DNA. In addition to autism, the two male siblings exhibited severe learning disability, self-injurious behaviour, temper tantrums and hyperactivity, and had no communicative language. Chromosomal analyses were normal. Neither of the two siblings showed mutations of the sequenced exons known to produce craniosynostosis. The microarray analysis detected an extra copy of a region on the long arm of chromosome X, chromosome band Xq13.1-q21.1. Comparison of our two cases with previously described patients allowed us to identify three genes predisposing for autism in the duplicated chromosomal region. Sagittal craniosynostosis is also a new finding linked to the duplication.

  1. Cranial vault remodeling in microcephalic osteodysplastic primordial dwarfism type II and craniosynostosis.

    Science.gov (United States)

    Engel, Michael; Castrillon-Oberndorfer, Gregor; Hoffmann, Jürgen; Egermann, Marcus; Freudlsperger, Christian; Thiele, Oliver Christian

    2012-09-01

    This is a survey of the long-term result after various surgical treatments in a child with microcephalic osteodysplastic primordial dwarfism type II (MOPD II) and craniosynostosis. We report a 17-year-old patient with MOPD II but some unusual clinical signs including bilateral knee dislocation, a misplaced upper lobe bronchus, and hypoplasia of the anterior corpus callosum. Because of premature fusion of several cranial sutures, the child developed signs of increased intracranial pressure with somnolence and papilledema. Cranial vault remodeling with fronto-orbital advancement was performed twice at the age of 16 and 21 months to open the abnormally closed suture, increase the intracranial volume, and relieve the elevated intracranial pressure. Following this procedure, the child's neurologic situation recovered significantly. Surgical procedure of fronto-orbital advancement and the performed reoperation in our patient were safe with no major complications intraoperatively and postoperatively with good functional and satisfying aesthetic outcomes in the long-term follow-up, expressed by the patient, his parents, and the surgeons.

  2. Radiological assessment of skull base changes in children with syndromic craniosynostosis: role of ''minor'' sutures

    Energy Technology Data Exchange (ETDEWEB)

    Calandrelli, Rosalinda; D' Apolito, Gabriella; Gaudino, Simona; Stefanetti, Mariangela; Colosimo, Cesare [Universita Cattolica Sacro Cuore, Institute of Radiology, Rome (Italy); Massimi, Luca; Di Rocco, Concezio [Universita Cattolica Sacro Cuore, Institute of Neurosurgery, Rome (Italy)

    2014-10-15

    This study aims to identify the premature synostosis of ''major'' and ''minor'' sutures of the four ''sutural arches'' of the skull and to perform a morphometric analysis in children with syndromic craniosynostosis in order to evaluate changes in the skull base linked with premature suture synostosis. We reviewed multiplanar high-resolution CT images, implemented with 3D reconstructions, from 18 patients with complex syndromic craniosynostosis and compared them with 18 age-matched healthy subjects. We assessed the calvarial sutures and their extension to the skull base, and then we correlated specific types of synostosis with the size, shape and symmetry of the cranial fossae. We found a marked asymmetry of the skull base growth in all patients. The synostotic involvement around the coronal ring caused a reduction in the growth of the anterior and middle fossae. The size of the posterior cranial fossa was related not only to ''major'' but also to ''minor'' suture synostosis of the lambdoid and parieto-squamosal arches. Changes in the skull base and craniofacial axis symmetry are due to structural and functional relationships between ''major'' and ''minor'' skull sutures, suggesting a structural and functional relationship between the neurocranium and basicranium. The early recognition of prematurely closed skull base sutures may help clinicians and neurosurgeons to establish correct therapeutic approaches. (orig.)

  3. Initial Treatment for Nonsyndromic Early-Life Epilepsy: An Unexpected Consensus.

    Science.gov (United States)

    Shellhaas, Renée A; Berg, Anne T; Grinspan, Zachary M; Wusthoff, Courtney J; Millichap, John J; Loddenkemper, Tobias; Coryell, Jason; Saneto, Russell P; Chu, Catherine J; Joshi, Sucheta M; Sullivan, Joseph E; Knupp, Kelly G; Kossoff, Eric H; Keator, Cynthia; Wirrell, Elaine C; Mytinger, John R; Valencia, Ignacio; Massey, Shavonne; Gaillard, William D

    2017-10-01

    There are no evidence-based guidelines on the preferred approach to treating early-life epilepsy. We examined initial therapy selection in a contemporary US cohort of children with newly diagnosed, nonsyndromic, early-life epilepsy (onset before age three years). Seventeen pediatric epilepsy centers participated in a prospective cohort study of children with newly diagnosed epilepsy with onset under 36 months of age. Details regarding demographics, seizure types, and initial medication selections were obtained from medical records. About half of the 495 enrolled children with new-onset, nonsyndromic epilepsy were less than 12 months old at the time of diagnosis (n = 263, 53%) and about half (n = 260, 52%) had epilepsy with focal features. Of 464 who were treated with monotherapy, 95% received one of five drugs: levetiracetam (n = 291, 63%), oxcarbazepine (n = 67, 14%), phenobarbital (n = 57, 12%), topiramate (n = 16, 3.4%), and zonisamide (n = 13, 2.8%). Phenobarbital was prescribed first for 50 of 163 (31%) infants less than six months old versus seven of 300 (2.3%) of children six months or older (P epilepsy presentation (focal, generalized, mixed/uncertain). Between the first and second treatment choices, 367 (74%) of children received levetiracetam within the first year after diagnosis. Without any specific effort, the pediatric epilepsy community has developed an unexpectedly consistent approach to initial treatment selection for early-life epilepsy. This suggests that a standard practice is emerging and could be utilized as a widely acceptable basis of comparison in future drug studies. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. The longitudinal sagittal growth changes of maxilla and mandible according to quantitative cervical vertebral maturation.

    Science.gov (United States)

    Chen, Lili; Lin, Jiuxiang; Xu, Tianmin; Long, Xiaosi

    2009-04-01

    To investigate the longitudinal sagittal growth changes of maxilla and mandible according to the quantitative cervical vertebral maturation (QCVM) for adolescents with normal occlusion, mixed longitudinal data were used. The samples included 87 adolescents aged from 8 to 18 y old with normal occlusion (32 males, 55 females) selected from 901 candidates. Sequential lateral cephalograms and hand-wrist films were taken once a year, lasting for 6 y. The longitudinal sagittal growth changes of maxilla and mandible according to QCVM were measured. There were some significant differences between maxilla and mandible according to QCVM. The sagittal growth change of maxilla showed a trend towards high velocity-->decelerating velocity-->completing velocity from QCVM stage I to stage IV. The sagittal growth change of mandible showed a trend towards accelerating velocity-->high velocity-->decelerating velocity-->completing velocity from QCVM stage I to stage IV. With sagittal relationship, growth magnitude was almost the same between maxilla and mandible at QCVM stage I. At stage II the growth of mandible exceeded that of maxilla and growth in mandible continued at stages III and IV, while the maxilla ceased to grow. Growth magnitude was greater and the growth duration was longer with male mandible. It is concluded that the longitudinal sagittal growth changes of maxilla and mandible on the basis of QCVM is of value in the orthodontic practice.

  5. Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

    Science.gov (United States)

    Mangold, Elisabeth; Böhmer, Anne C.; Ishorst, Nina; Hoebel, Ann-Kathrin; Gültepe, Pinar; Schuenke, Hannah; Klamt, Johanna; Hofmann, Andrea; Gölz, Lina; Raff, Ruth; Tessmann, Peter; Nowak, Stefanie; Reutter, Heiko; Hemprich, Alexander; Kreusch, Thomas; Kramer, Franz-Josef; Braumann, Bert; Reich, Rudolf; Schmidt, Gül; Jäger, Andreas; Reiter, Rudolf; Brosch, Sibylle; Stavusis, Janis; Ishida, Miho; Seselgyte, Rimante; Moore, Gudrun E.; Nöthen, Markus M.; Borck, Guntram; Aldhorae, Khalid A.; Lace, Baiba; Stanier, Philip; Knapp, Michael; Ludwig, Kerstin U.

    2016-01-01

    Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. Recently, ∼5% of VWS-affected individuals were identified with mutations in the grainy head-like 3 gene (GRHL3). To investigate GRHL3 in nonsyndromic clefting, we sequenced its coding region in 576 Europeans with nsCL/P and 96 with nsCPO. Most strikingly, nsCPO-affected individuals had a higher minor allele frequency for rs41268753 (0.099) than control subjects (0.049; p = 1.24 × 10−2). This association was replicated in nsCPO/control cohorts from Latvia, Yemen, and the UK (pcombined = 2.63 × 10−5; ORallelic = 2.46 [95% CI 1.6–3.7]) and reached genome-wide significance in combination with imputed data from a GWAS in nsCPO triads (p = 2.73 × 10−9). Notably, rs41268753 is not associated with nsCL/P (p = 0.45). rs41268753 encodes the highly conserved p.Thr454Met (c.1361C>T) (GERP = 5.3), which prediction programs denote as deleterious, has a CADD score of 29.6, and increases protein binding capacity in silico. Sequencing also revealed four novel truncating GRHL3 mutations including two that were de novo in four families, where all nine individuals harboring mutations had nsCPO. This is important for genetic counseling: given that VWS is rare compared to nsCPO, our data suggest that dominant GRHL3 mutations are more likely to cause nonsyndromic than syndromic CPO. Thus, with rare dominant mutations and a common risk variant in the coding region, we have identified an important contribution for GRHL3 in nsCPO. PMID:27018475

  6. Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association.

    Science.gov (United States)

    Bessenyei, Beáta; Nagy, Andrea; Balogh, Erzsébet; Novák, László; Bognár, László; Knegt, Alida C; Oláh, Eva

    2013-10-01

    We report on a female patient with an exceedingly rare combination of achondroplasia and multiple-suture craniosynostosis. Besides the specific features of achondroplasia, synostosis of the metopic, coronal, lambdoid, and squamosal sutures was found. Series of neurosurgical interventions were carried out, principally for acrocephaly and posterior plagiocephaly. The most common achondroplasia mutation, a p.Gly380Arg in the fibroblast growth factor receptor 3 (FGFR3) gene, was detected. Cytogenetic and array CGH analyses, as well as molecular genetic testing of FGFR1, 2, 3 and TWIST1 genes failed to identify any additional genetic alteration. It is suggested that this unusual phenotype is a result of variable expressivity of the common achondroplasia mutation. Copyright © 2013 Wiley Periodicals, Inc.

  7. ‘Lumbar Degenerative Kyphosis’ Is Not Byword for Degenerative Sagittal Imbalance: Time to Replace a Misconception

    Science.gov (United States)

    Lee, Chang-Hyun; Chung, Chun Kee; Jang, Jee-Soo; Kim, Sung-Min; Chin, Dong-Kyu; Lee, Jung-Kil

    2017-01-01

    Lumbar degenerative kyphosis (LDK) is a subgroup of the flat-back syndrome and is most commonly caused by unique life styles, such as a prolonged crouched posture during agricultural work and performing activities of daily living on the floor. Unfortunately, LDK has been used as a byword for degenerative sagittal imbalance, and this sometimes causes confusion. The aim of this review was to evaluate the exact territory of LDK, and to introduce another appropriate term for degenerative sagittal deformity. Unlike what its name suggests, LDK does not only include sagittal balance disorder of the lumbar spine and kyphosis, but also sagittal balance disorder of the whole spine and little lordosis of the lumbar spine. Moreover, this disease is closely related to the occupation of female farmers and an outdated Asian life style. These reasons necessitate a change in the nomenclature of this disorder to prevent misunderstanding. We suggest the name “primary degenerative sagittal imbalance” (PDSI), which encompasses degenerative sagittal misalignments of unknown origin in the whole spine in older-age patients, and is associated with back muscle wasting. LDK may be regarded as a subgroup of PDSI related to an occupation in agriculture. Conservative treatments such as exercise and physiotherapy are recommended as first-line treatments for patients with PDSI, and surgical treatment is considered only if conservative treatments failed. The measurement of spinopelvic parameters for sagittal balance is important prior to deformity corrective surgery. LDK can be considered a subtype of PDSI that is more likely to occur in female farmers, and hence the use of LDK as a global term for all degenerative sagittal imbalance disorders is better avoided. To avoid confusion, we recommend PDSI as a newer, more accurate diagnostic term instead of LDK. PMID:28264231

  8. Localization of A Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB38) to 6q26–q27 in a Consanguineous Kindred from Pakistan

    OpenAIRE

    Ansar, Muhammad; Ramzan, Mohammad; Pham, Thanh L.; Yan, Kai; Jamal, Syed Muhammad; Haque, Sayedul; Ahmad, Wasim; Leal, Suzanne M.

    2003-01-01

    For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26–q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26–q27 (Multipoint lod...

  9. Spinal pedicle subtraction osteotomy for fixed sagittal imbalance patients

    Science.gov (United States)

    Hyun, Seung-Jae; Kim, Yongjung J; Rhim, Seung-Chul

    2013-01-01

    In addressing spinal sagittal imbalance through a posterior approach, the surgeon now may choose from among a variety of osteotomy techniques. Posterior column osteotomies such as the facetectomy or Ponte or Smith-Petersen osteotomy provide the least correction, but can be used at multiple levels with minimal blood loss and a lower operative risk. Pedicle subtraction osteotomies provide nearly 3 times the per-level correction of Ponte/Smith-Petersen osteotomies; however, they carry increased technical demands, longer operative time, and greater blood loss and associated significant morbidity, including neurological injury. The literature focusing on pedicle subtraction osteotomy for fixed sagittal imbalance patients is reviewed. The long-term overall outcomes, surgical tips to reduce the complications and suggestions for their proper application are also provided. PMID:24340276

  10. Nonsyndromic Hearing Loss Caused by USH1G Mutations: Widening the USH1G Disease Spectrum

    NARCIS (Netherlands)

    Oonk, A.M.M.; Huet, R.A.C. van; Leijendeckers, J.M.; Oostrik, J.; Venselaar, H.; WIjk, E. van; Beynon, A.J.; Kunst, H.P.M.; Hoyng, C.B.; Kremer, H.; Schraders, M.; Pennings, R.J.E.

    2015-01-01

    OBJECTIVE: Currently, six genes are known to be associated with Usher syndrome type I, and mutations in most of these genes can also cause nonsyndromic hearing loss. The one exception is USH1G, which is currently only known to be involved in Usher syndrome type I and atypical Usher syndrome. DESIGN:

  11. Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

    Directory of Open Access Journals (Sweden)

    Amina Bakhchane

    Full Text Available The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B. Here, we report the results of genetic analyses performed on Moroccan families with autosomal recessive non syndromic hearing loss that identified two families with compound heterozygous MYO7A mutations. Five mutations (c.6025delG, c.6229T>A, c.3500T>A, c.5617C>T and c.4487C>A were identified in these families, the latter presenting two differently affected branches. Multiple bioinformatics programs and molecular modelling predicted the pathogenic effect of these mutations. In conclusion, the absence of vestibular and retinal symptom in the affected patients suggests that these families have the isolated non-syndromic hearing loss DFNB2 (nonsyndromic autosomal recessive hearing loss presentation, instead of USH1B.

  12. The angle of inclination of the native ACL in the coronal and sagittal planes.

    Science.gov (United States)

    Reid, Jonathan C; Yonke, Bret; Tompkins, Marc

    2017-04-01

    The purpose of this cross-sectional study was to evaluate the angle of inclination of the native anterior cruciate ligament (ACL) in both the sagittal and coronal planes and to evaluate these findings based on sex, height, BMI, and skeletal maturity. Inclusion criteria for the study included patients undergoing routine magnetic resonance imaging (MRI) of the knee at a single outpatient orthopedic center who had an intact ACL on MRI. Measurements of the angle of inclination were made on MRIs in both the sagittal and coronal planes. Patients were compared based on sex, height, BMI, and skeletal maturity. One-hundred and eighty-eight patients were included (36 skeletally immature/152 skeletally mature; 98 male/90 female). The overall angle of inclination was 74.3° ± 4.8° in the coronal plane and 46.9° ± 4.9° in the sagittal plane. Skeletally immature patients (coronal: 71.8° ± 6.1°; sagittal: 44.7° ± 5.5°) were significantly different in both coronal and sagittal planes (P = 0.04 and 0.01, respectively) from skeletally mature patients (coronal: 75.3° ± 4.7°; sagittal: 47.4° ± 4.7°). There were no differences based on sex, height, or BMI. There are differences between the angle of inclination findings in this study and other studies, which could be due to MRI and measurement techniques. Clinically, skeletal maturity may be important to account for when using the ACL angle of inclination to evaluate anatomic ACL reconstruction. Prognostic retrospective study, Level of evidence III.

  13. Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting

    DEFF Research Database (Denmark)

    Chen, Neng; Tranebjærg, Lisbeth; Rendtorff, Nanna Dahl

    2011-01-01

    Pendred syndrome and DFNB4 (autosomal recessive nonsyndromic congenital deafness, locus 4) are associated with autosomal recessive congenital sensorineural hearing loss and mutations in the SLC26A4 gene. Extensive allelic heterogeneity, however, necessitates analysis of all exons and splice sites...

  14. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

    NARCIS (Netherlands)

    Astuto, L.M.; Bork, J.M.; Weston, M.D.; Askew, J.W.; Fields, R.R.; Orten, D.J.; Ohliger, S.J.; Riazuddin, S.; Morell, R.J.; Khan, S.; Kremer, J.M.J.; Hauwe, P. van; Moller, C.G.; Cremers, C.W.R.J.; Ayuso, C.; Heckenlively, J.R.; Rohrschneider, K.; Spandau, U.; Greenberg, J.; Ramesar, R.S.; Reardon, W.; Bitoun, P.; Millan, J.; Legge, R.; Friedman, T.B.; Kimberling, W.J.

    2002-01-01

    Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness

  15. Anatomic Severity, Midfacial Growth, and Speech Outcomes in Van der Woude/Popliteal Pterygium Syndromes Compared to Nonsyndromic Cleft Lip/Palate.

    Science.gov (United States)

    Reardon, Jeffrey B; Brustowicz, Katherine A; Marrinan, Eileen M; Mulliken, John B; Padwa, Bonnie L

    2015-11-01

    To summarize the clinical characteristics and surgical and speech outcomes for patients with Van der Woude/popliteal pterygium syndromes (VWS/PPS) and to compare them with a historic cohort of patients with nonsyndromic cleft lip/cleft palate (CL/P). Retrospective chart review. Tertiary care center. All patients with VWS/PPS seen at Boston Children's Hospital from 1979 to 2012: 28 patients with VWS (n = 21)/PPS (n = 7) whose mean age was 17.3 ± 10.4 years, including 18 females (64%) and 10 males (36%); 18 patients (64%) had a family history of VWS/PPS. Cleft type, operative procedures, speech, and midfacial growth. Data were compared with historic cohorts of patients with nonsyndromic CL/P treated at one tertiary care center. There were 24 patients (86%) with CP±L, Veau types I (n = 4, 17%), II (n = 4, 17%), III (n = 5, 21%), and IV (n = 11, 46%). Nine patients (38%) had palatal fistula after palatoplasty. Fourteen of 23 (61%) patients with CL/P age 5 years or older had midfacial retrusion, and 10 (43%) required a pharyngeal flap for velopharyngeal insufficiency. Fisher's exact test demonstrated higher frequencies of Veau type IV CP±L (P = .0016), bilateral CL±P (P = .0001), and complete CL±P (P palatal fistula (P clefting and higher incidences of midfacial retrusion, palatal fistula, and velopharyngeal insufficiency following primary repair as compared with nonsyndromic CL/P.

  16. Investigation of reconstruction conditions in sagittal-plane multiplanar reconstruction of the temporal bone

    International Nuclear Information System (INIS)

    Suzuki, Miyako; Yoshikawa, Hiroshi; Hosokawa, Akira; Ichikawa, Ginichiro; Kobayashi, Kenichi; Ando, Ichiro

    2002-01-01

    In recent years, it has become possible to quickly obtain a large amount of 3D data with high continuity by helical CT scanning, in which the body is scanned continuously in a helical fashion. MPR (multiplanar reconstruction) can be performed using this data to generate images in arbitrary sectional planes, making it possible to obtain sagittal-plane images of the highest quality, which is useful for surgical planning. However, the procedures involved are rather complicated. Therefore, this study was conducted to investigate conditions for standardization of sagittal-plane MPR examinations performed using Xvigor CT scanners and Xtension. The results showed that a slice interval of 1 mm, no imaging filter, a zooming factor of 1.5, a window level of 350, and a window width of 3500 are the optimal imaging conditions. The stapes can be visualized in 70% of cases with sagittal-plane MPR based on axial images, and can be recognized at surgery in 75% or more of cases. Images of consistent quality can be obtained by standardizing the conditions for sagittal-plane MPR, which should prove advantageous in the clinical setting. (author)

  17. Signs of patellar chondromalacia on sagittal T2-weighted magnetic resonance imaging

    International Nuclear Information System (INIS)

    De Smet, A.A.; Monu, J.U.; Fisher, D.R.; Keene, J.S.; Graf, B.K.

    1992-01-01

    We incidentally noted distinctive high signal defects or fissures in the patellar articular cartilage on sagittal T2-weighted magnetic resonance (MR) images in 4 patients. At subsequent arthroscopy all 4 patients were found to have patellar chondromalacia. To determine the reliabilty of these signs, we retrospectively evaluated, in a blinded manner, sagittal T2-weighted MR images of the knee in 75 patients who were undergoing arthroscopic assessment of their patellar articular cartilage. We indentified high signal defects of fissures in the patellar cartilage of 5 patients. Patellar chondromalacia was noted at arthroscopy in all 5 patients. Arthroscopy demonstrated patellar chondromalacia in an additional 21 patients with normal MR images. We conclude that high signal defects or fissures on sagittal T2-weighted images are usefull signs of patellar chondromalacia. This single imaging sequence will, however, detect only a small number of the cartilage lesions that may be present. (orig.)

  18. Signs of patellar chondromalacia on sagittal T2-weighted magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    De Smet, A.A.; Monu, J.U.; Fisher, D.R. (Univ. of Wisconsin Hospital and Clinics, Dept. of Radiology, Madison, WI (United States)); Keene, J.S.; Graf, B.K. (Univ. of Wisconsin Hospital and Clinics, Div. of Orthopedic Surgery, Madison, WI (United States))

    1992-02-01

    We incidentally noted distinctive high signal defects or fissures in the patellar articular cartilage on sagittal T2-weighted magnetic resonance (MR) images in 4 patients. At subsequent arthroscopy all 4 patients were found to have patellar chondromalacia. To determine the reliabilty of these signs, we retrospectively evaluated, in a blinded manner, sagittal T2-weighted MR images of the knee in 75 patients who were undergoing arthroscopic assessment of their patellar articular cartilage. We indentified high signal defects of fissures in the patellar cartilage of 5 patients. Patellar chondromalacia was noted at arthroscopy in all 5 patients. Arthroscopy demonstrated patellar chondromalacia in an additional 21 patients with normal MR images. We conclude that high signal defects or fissures on sagittal T2-weighted images are usefull signs of patellar chondromalacia. This single imaging sequence will, however, detect only a small number of the cartilage lesions that may be present. (orig.).

  19. Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss.

    Science.gov (United States)

    Tlili, Abdelaziz; Al Mutery, Abdullah; Kamal Eddine Ahmad Mohamed, Walaa; Mahfood, Mona; Hadj Kacem, Hassen

    2017-11-01

    Mutations in the gap junction protein beta 2 (GJB2) gene are responsible for more cases of nonsyndromic recessive hearing loss than any other gene. The purpose of our study was to evaluate the prevalence of GJB2 mutations among affected individuals from United Arab Emirates (UAE). There were 50 individuals diagnosed with hereditary hearing loss and 120 healthy individuals enrolled in the study. The Sanger sequencing method was used to screen the GJB2 coding region in all affected individuals. The c.-1G>A variant was determined by the polymerase chain reaction-restriction fragment length polymorphism method in normal individuals. Nine cases with bi-allelic mutations and three cases with mono-allelic mutations were detected in 12 out of 50 patients (24%). The homozygous mutation c.35delG was identified as the cause of hearing loss in six participants (12%). The mutation c.506G>A was identified in three affected individuals (6%). The allelic frequency (14%) and low percentage of individuals that were homozygous (2%) for the c.35delG mutation suggest that there are other genes responsible for nonsyndromic deafness in the UAE population. The results reported here are a preliminary step in collecting epidemiological data regarding autosomal recessive nonsyndromic hearing loss related to GJB2 gene mutations among the UAE population. The c.35delG mutation of the GJB2 gene is the most frequently seen causative mutation in the UAE and is followed by the p.Cys169Tyr mutation.

  20. Noninvasive Optoelectronic Assessment of Induced Sagittal Imbalance Using the Vicon System.

    Science.gov (United States)

    Ould-Slimane, Mourad; Latrobe, Charles; Michelin, Paul; Chastan, Nathalie; Dujardin, Franck; Roussignol, Xavier; Gauthé, Rémi

    2017-06-01

    Spinal diseases often induce gait disorders with multifactorial origins such as lumbar pain, radicular pain, neurologic complications, or spinal deformities. However, radiography does not permit an analysis of spinal dynamics; therefore, sagittal balance dynamics during gait remain largely unexplored. This prospective and controlled pilot study assessed the Vicon system for detecting sagittal spinopelvic imbalance, to determine the correlations between optoelectronic and radiographic parameters. Reversible anterior sagittal imbalance was induced in 24 healthy men using a thoracolumbar corset. Radiographic, optoelectronic, and comparative analyses were conducted. Corset wearing induced significant variations in radiographic parameters indicative of imbalance; the mean C7-tilt and d/D ratio increased by 15° ± 7.4° and 359%, respectively, whereas the mean spinosacral angle decreased by 16.8° ± 8° (all P imbalance; the mean spinal angle increased by 15.4° ± 5.6° (P imbalance detected using the Vicon system. Optoelectronic C7'S1' correlated with radiographic C7-tilt and d/D ratio. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Candidate gene association studies in syndromic and non-syndromic cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Daack-Hirsch, S.; Basart, A.; Frischmeyer, P. [Univ. of Iowa, IA (United States)] [and others

    1994-09-01

    Using ongoing case ascertainment through a birth defects registry, we have collected 219 nuclear families with non-syndromic cleft lip and/or palate and 111 families with a collection of syndromic forms. Syndromic cases include 24 with recognized forms and 72 with unrecognized syndromes. Candidate gene studies as well as genome-wide searches for evidence of microdeletions and isodisomy are currently being carried out. Candidate gene association studies, to date, have made use of PCR-based polymorphisms for TGFA, MSX1, CLPG13 (a CA repeat associated with a human homologue of a locus that results in craniofacial dysmorphogenesis in the mouse) and an STRP found in a Van der Woude syndrome microdeletion. Control tetranucleotide repeats, which insure that population-based differences are not responsible for any observed associations, are also tested. Studies of the syndromic cases have included the same list of candidate genes searching for evidence of microdeletions and a genome-wide search using tri- and tetranucleotide polymorphic markers to search for isodisomy or structural rearrangements. Significant associations have previously been identified for TGFA, and, in this report, identified for MSX1 and nonsyndromic cleft palate only (p = 0.04, uncorrected). Preliminary results of the genome-wide scan for isodisomy has returned no true positives and there has been no evidence for microdeletion cases.

  2. Benefits of sagittal-oblique MRI reconstruction of anterior cruciate ligament of the knee

    International Nuclear Information System (INIS)

    Nenezić, D.

    2015-01-01

    Full text: MRI examination of the anterior cruciate ligament (ACL) of the knee gives valuable information for conventional, physiatrist and/or arthroscopic microinvasiv treatment. three planar MRI examination and 3D reconstructions are highly precise in the analysis of the intra and periarticular structures, with exceptions of anterior cruciate ligament. Direct contact with the roof of the intercondilar fossa (in the full extension during the examination) and its specific orientation makes visualization of ACL diagnostically problematic. In a one year period precise protocol for MRI visualization of ACL was tested and applied as “Sagittal Oblique MRI Reconstruction”. In short, it has been Angled biplanar reconstruction in the parasagital and paratransversal planes (patientrelated and arbitrary selected in full extension), on T2, 2mm slice and 0,2 mm gap. 153 MRI examinations of the patients with lesions of the ACL were included in the study in the Clinical Center of Montenegro during 2005 year. Beside standard Knee MRI protocol all patients had the Sagittal Oblique MRI reconstruction of ACL and the Flexion MRI examination, to compare with. The Sagittal Oblique MRI reconstruction of ACL it is adapted to the concrete morphology of the patients ACL and it does not depend of the volume of the examined knee. In comparison with the Standard Knee MRI protocol and with the Flexion MRI examination, the Sagittal Oblique MRI reconstruction of ACL takes less time to perform, and the ligament is shown in fool length at three to five slices, which is more than with the both compared protocols. Sagittal Oblique MRI Reconstruction of ACL is therefore patient dependable, orientated in shape of concrete ligament of the patient’s knee. In combination with age, occupation, physical activity and level of patients while to contribute in healing process, the Sagittal Oblique MRI reconstruction of ACL contribute to scholastic approach, as highest benefit to patients with

  3. INFLUENCE OF THE SAGITTAL BALANCE ON THE CLINICAL OUTCOME IN SPINAL FUSION

    Directory of Open Access Journals (Sweden)

    Marcela Almeida Campos Coutinho

    2016-03-01

    Full Text Available ABSTRACT Objective: Evaluates which radiographic parameters of the sagittal and spinopelvic balance influence the clinical and functional outcomes of a sample of patients undergoing spinal fusion. Methods: We studied 32 patients who underwent spinal fusion. Radiographs of the total spine were obtained from all patients. The clinical and functional parameters studied were analysis of pain by visual analogic scale (VAS and Oswestry and SRS-30 questionnaires. We analyzed the correlation between the clinical and functional parameters and radiographic parameters of the sagittal and spinopelvic balance. Results: There was no significant correlation between parameters pelvic incidence (PI, pelvic tilt (PT, lumbar lordosis (LL and difference between PI and LL (PI-LL and clinical parameters (p > 0.05 and r <0.2. Significant correlation were identified only between Sagittal Vertical Axis (SVA and Satisfaction with Treatment domain of SRS-30 (r = 0.402 e p = 0.023 and between thoracic kyphosis (TK and the total SRS-30 (r = 0.419 and p = 0.017. Conclusions: According to the study results, it was not possible to precisely characterize the role of the parameters of the sagittal and spinopelvic balance in the post-operative analysis of the clinical outcome of spinal fusion. There was a significant correlation only between SVA and the Satisfaction with Treatment domain of SRS-30 and between TK and total SRS-30.

  4. Tracking errors in tractography of the gastrocnemius muscle. A comparison between the transverse and sagittal planes

    International Nuclear Information System (INIS)

    Aoki, Takako; Tohdoh, Yukihiro; Tawara, Noriyuki; Okuwaki, Toru; Horiuchi, Akira; Itagaki, Takuma; Niitsu, Mamoru

    2010-01-01

    In scans taken in conventional direction, tracking errors may occur when using a streamline-based algorithm for the tractography of the gastrocnemius muscle. To solve errors in tracking, we applied tractography to the musculotendinous junction and performed fiber tracking on the gastrocnemius muscle of 10 healthy subjects with their written informed consent. We employed a spin-echo diffusion tensor imaging (SE-DTI) sequence with 6-direction diffusion gradient sensitization and acquired DTI images at 1.5 tesla using a body array coil with parallel imaging. We compared tractography obtained in the transverse and sagittal planes using anatomical reference and found that the gastrocnemius muscle and musculotendinous junction were significantly better visualized on sagittal scans and in 3 regions of interest. We utilized Mann-Whitney U-test to determine significant differences between rates of concordance (P 2 value of skeletal muscle is around 50 ms, and TE should be as short as possible. A streamline-based algorithm is based on the continuity of a vector. It is easy to take running of the muscle fiber in sagittal scan. Therefore, tracking error is hard to occur. In conclusion, sagittal scanning may be one way to eliminate tracking errors in the tractography of the gastrocnemius muscle. Tracking errors were smaller with sagittal scans than transverse scans, and sagittal scans allow better fiber tracking. (author)

  5. Measurement and Finite Element Model Validation of Immature Porcine Brain-Skull Displacement during Rapid Sagittal Head Rotations.

    Science.gov (United States)

    Pasquesi, Stephanie A; Margulies, Susan S

    2018-01-01

    Computational models are valuable tools for studying tissue-level mechanisms of traumatic brain injury, but to produce more accurate estimates of tissue deformation, these models must be validated against experimental data. In this study, we present in situ measurements of brain-skull displacement in the neonatal piglet head ( n  = 3) at the sagittal midline during six rapid non-impact rotations (two rotations per specimen) with peak angular velocities averaging 51.7 ± 1.4 rad/s. Marks on the sagittally cut brain and skull/rigid potting surfaces were tracked, and peak values of relative brain-skull displacement were extracted and found to be significantly less than values extracted from a previous axial plane model. In a finite element model of the sagittally transected neonatal porcine head, the brain-skull boundary condition was matched to the measured physical experiment data. Despite smaller sagittal plane displacements at the brain-skull boundary, the corresponding finite element boundary condition optimized for sagittal plane rotations is far less stiff than its axial counterpart, likely due to the prominent role of the boundary geometry in restricting interface movement. Finally, bridging veins were included in the finite element model. Varying the bridging vein mechanical behavior over a previously reported range had no influence on the brain-skull boundary displacements. This direction-specific sagittal plane boundary condition can be employed in finite element models of rapid sagittal head rotations.

  6. Measurement and Finite Element Model Validation of Immature Porcine Brain–Skull Displacement during Rapid Sagittal Head Rotations

    Science.gov (United States)

    Pasquesi, Stephanie A.; Margulies, Susan S.

    2018-01-01

    Computational models are valuable tools for studying tissue-level mechanisms of traumatic brain injury, but to produce more accurate estimates of tissue deformation, these models must be validated against experimental data. In this study, we present in situ measurements of brain–skull displacement in the neonatal piglet head (n = 3) at the sagittal midline during six rapid non-impact rotations (two rotations per specimen) with peak angular velocities averaging 51.7 ± 1.4 rad/s. Marks on the sagittally cut brain and skull/rigid potting surfaces were tracked, and peak values of relative brain–skull displacement were extracted and found to be significantly less than values extracted from a previous axial plane model. In a finite element model of the sagittally transected neonatal porcine head, the brain–skull boundary condition was matched to the measured physical experiment data. Despite smaller sagittal plane displacements at the brain–skull boundary, the corresponding finite element boundary condition optimized for sagittal plane rotations is far less stiff than its axial counterpart, likely due to the prominent role of the boundary geometry in restricting interface movement. Finally, bridging veins were included in the finite element model. Varying the bridging vein mechanical behavior over a previously reported range had no influence on the brain–skull boundary displacements. This direction-specific sagittal plane boundary condition can be employed in finite element models of rapid sagittal head rotations. PMID:29515995

  7. The accuracy of intramedullary tibial guide of sagittal alignment of PCL-substituting total knee arthroplasty.

    Science.gov (United States)

    Han, Hyuk-Soo; Kang, Seung-Baik; Jo, Chris H; Kim, Sun-Hong; Lee, Jung-Ha

    2010-10-01

    Experimental and clinical studies on the accuracy of the intramedullary alignment method have produced different results, and few have addressed accuracy in the sagittal plane. Reported deviations are not only attributable to the alignment method but also to radiological errors. The purpose of this study was to evaluate the accuracy of the intramedullary alignment method in the sagittal plane using computed tomography (CT) and 3-dimensional imaging software. Thirty-one TKAs were performed using an intramedullary alignment method involving the insertion of a long 8-mm diameter rod into the medullary canal to the distal metaphysis of the tibia. All alignment instruments were set to achieve an ideal varus/valgus angle of 0° in the coronal plane and a tibial slope of 0° in the sagittal plane. The accuracy of the intramedullary alignment system was assessed by measuring the coronal tibial component angle and sagittal tibial slope angles, i.e., angles between the tibial anatomical axis and the tangent to the medial and lateral tibial plateau or the cut-surface. The mean coronal tibial component angle was 88.5° ± 1.2° and the mean tibial component slope in the sagittal plane was 1.6° ± 1.2° without anterior slope. Our intramedullary tibial alignment method, which involves passing an 8-mm diameter long rod through the tibial shaft isthmus, showed good accuracy (less than 3 degrees of variation and no anterior slope) in the sagittal plane in neutral or varus knees.

  8. Conjoined lumbosacral nerve roots compromised by disk herniation: sagittal shoulder sign for the preoperative diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Chang Ho [University of Ulsan College of Medicine, Asan Medical Center, Department of Radiology and Research Institute of Radiology, Seoul (Korea); Korea University College of Medicine, Department of Radiology, Anam Hospital, Seoul (Korea); Shin, Myung Jin; Kim, Sung Moon; Lee, Sang Hoon; Kim, Hee Kyung; Ryu, Jeong Ah [University of Ulsan College of Medicine, Asan Medical Center, Department of Radiology and Research Institute of Radiology, Seoul (Korea); Lee, Choon-Sung [University of Ulsan College of Medicine, Asan Medical Center, Department of Orthopedic Surgery, Seoul (Korea); Kim, Sam Soo [Kangwon National University College of Medicine, Department of Radiology, Kangwon (Korea)

    2008-03-15

    The objective was to determine the importance of the ''sagittal shoulder sign'' on magnetic resonance (MR) images for the diagnosis of conjoined lumbosacral nerve roots (CLNR) that are compromised by herniated disks. Magnetic resonance images of 11 patients (6 men and 5 women; age range, 25-71 years; average age, 48.7 years) with surgically proven CLNR, which was compromised by herniated disks, were retrospectively evaluated by two musculoskeletal radiologists. MR images were evaluated for the presence or absence of the sagittal shoulder sign - a vertical structure connecting two consecutive nerve roots and overlying disk on the sagittal MR images. The radiologists noted the type of accompanying disk herniation and bony spinal canal changes, as well as other characteristic MR features of CLNR, the common passage of two consecutive nerve roots through the neural foramen on axial MR images. The sagittal shoulder sign was identified with a mean frequency of 90.9% by the two observers (in 10 of 11 patients). The common passage of two consecutive nerve roots through the neural foramen on axial MR images was identified with a mean frequency of 59.1% (in 7 and 6 out of 11 patients, by observers 1 and 2, respectively). Good interobserver agreement for the sagittal shoulder sign was present (k = 0.621, p < 0.05). Observation of the sagittal shoulder sign may prove helpful for diagnosing CLNR in patients with disk herniation. In particular, this sign appears to be useful when there is no evidence of CLNR on axial MR images. (orig.)

  9. Not all sagittal band tears come with extensor instability. A case report with radiological and operative correlation

    International Nuclear Information System (INIS)

    Li, Shuo; Jacob, Jubin; Ghasemiesfe, Ahmadreza; Marrinan, Greg B.; Brooks, Jeffrey J.

    2018-01-01

    The sagittal bands are a component of the extensor hood. They serve an important role in stabilizing the extensor tendon by forming a ''check-rein'' to radial-ulnar translation of the tendon over the metacarpal head, and extending the metacarpophalangeal (MCP) joint by virtue of attaching the extensor tendon to the palmar plate. Injury to the sagittal band is thought to cause extensor instability and subluxation to the contralateral side by disruption of this ''check-rein'' function, although recent evidence from cadaver studies suggests that ulnar sagittal band tear may be spared of extensor instability. As a case in point, we encountered a patient with surgically proven ulnar sagittal band tear, who did not have any extensor tendon subluxation or any limitation in motion. Intraoperative findings demonstrated a chronic-appearing ulnar sagittal band tear, indicating that chronic injury with fibrosis may stabilize the central band. Therefore, in patients with metacarpophalangeal pain without central tendon subluxation or limitation of motion, it remains important to raise the concern of sagittal band tear for appropriate treatment. We present the clinical course of this case, with radiological and operative findings, followed by a review of the relevant literature. (orig.)

  10. Not all sagittal band tears come with extensor instability. A case report with radiological and operative correlation

    Energy Technology Data Exchange (ETDEWEB)

    Li, Shuo; Jacob, Jubin; Ghasemiesfe, Ahmadreza; Marrinan, Greg B. [Yale New Haven Health Bridgeport Hospital, Bridgeport, CT (United States); Brooks, Jeffrey J. [Orthopedic Surgery and Sports Medicine Center, New Canaan, CT (United States)

    2018-04-15

    The sagittal bands are a component of the extensor hood. They serve an important role in stabilizing the extensor tendon by forming a ''check-rein'' to radial-ulnar translation of the tendon over the metacarpal head, and extending the metacarpophalangeal (MCP) joint by virtue of attaching the extensor tendon to the palmar plate. Injury to the sagittal band is thought to cause extensor instability and subluxation to the contralateral side by disruption of this ''check-rein'' function, although recent evidence from cadaver studies suggests that ulnar sagittal band tear may be spared of extensor instability. As a case in point, we encountered a patient with surgically proven ulnar sagittal band tear, who did not have any extensor tendon subluxation or any limitation in motion. Intraoperative findings demonstrated a chronic-appearing ulnar sagittal band tear, indicating that chronic injury with fibrosis may stabilize the central band. Therefore, in patients with metacarpophalangeal pain without central tendon subluxation or limitation of motion, it remains important to raise the concern of sagittal band tear for appropriate treatment. We present the clinical course of this case, with radiological and operative findings, followed by a review of the relevant literature. (orig.)

  11. Bone to pick: the importance of evaluating reference genes for RT-qPCR quantification of gene expression in craniosynostosis and bone-related tissues and cells

    Directory of Open Access Journals (Sweden)

    Yang Xianxian

    2012-05-01

    Full Text Available Abstract Background RT-qPCR is a common tool for quantification of gene expression, but its accuracy is dependent on the choice and stability (steady state expression levels of the reference gene/s used for normalization. To date, in the bone field, there have been few studies to determine the most stable reference genes and, usually, RT-qPCR data is normalised to non-validated reference genes, most commonly GAPDH, ACTB and 18 S rRNA. Here we draw attention to the potential deleterious impact of using classical reference genes to normalise expression data for bone studies without prior validation of their stability. Results Using the geNorm and Normfinder programs, panels of mouse and human genes were assessed for their stability under three different experimental conditions: 1 disease progression of Crouzon syndrome (craniosynostosis in a mouse model, 2 proliferative culture of cranial suture cells isolated from craniosynostosis patients and 3 osteogenesis of a mouse bone marrow stromal cell line. We demonstrate that classical reference genes are not always the most ‘stable’ genes and that gene ‘stability’ is highly dependent on experimental conditions. Selected stable genes, individually or in combination, were then used to normalise osteocalcin and alkaline phosphatase gene expression data during cranial suture fusion in the craniosynostosis mouse model and strategies compared. Strikingly, the expression trends of alkaline phosphatase and osteocalcin varied significantly when normalised to the least stable, the most stable or the three most stable genes. Conclusion To minimise errors in evaluating gene expression levels, analysis of a reference panel and subsequent normalization to several stable genes is strongly recommended over normalization to a single gene. In particular, we conclude that use of single, non-validated “housekeeping” genes such as GAPDH, ACTB and 18 S rRNA, currently a widespread practice by researchers in

  12. The relationship between changes of cervical sagittal alignment after anterior cervical discectomy and fusion and spino-pelvic sagittal alignment under roussouly classification: a four-year follow-up study.

    Science.gov (United States)

    Huang, Dong-Ning; Yu, Miao; Xu, Nan-Fang; Li, Mai; Wang, Shao-Bo; Sun, Yu; Jiang, Liang; Wei, Feng; Liu, Xiao-Guang; Liu, Zhong-Jun

    2017-02-20

    Anterior cervical discectomy and fusion (ACDF) is widely used in the treatment of cervical degenerative disease; however, the variation of cervical sagittal alignment changes after ACDF has been rarely explored. The purpose of this study is to determine the relationship between changes of cervical sagittal alignment after ACDF and spino-pelvic sagittal alignment under Roussouly classification. A cohort of 133 Chinese cervical spondylotic patients who received ACDF from 2011 to 2012 was recruited. All patients were categorized with Roussouly Classification. Lateral X-ray images of global spine were obtained, and preoperative and postoperative parameters were measured and analyzed, including C2-C7 angles (C2-C7), C0-C7 angles (C0-C7), external auditory meatus (EAM) tilt, sacral slope (SS), thoracic kyphosis (TK), lumbar lordosis (LL), spinal sacral angles (SSA), Superior adjacent inter-vertebral angle (SAIV), inferior adjacent inter-vertebral angle (IAIV) and et al. The Wilcoxon signed-rank test was used for intragroup comparisons preoperatively and at postoperative 48 months. Among the parameters, C2-C7 and C0-C7 showed significant increase, while EAM TK, and IAIV decreased significantly. In type I, EAM and TK decreased significantly, however SS showed a significant increase; in type II, TK showed a significant decrease, but SSA showed a significant increase; in type III, a significant increase of C0-C7 was observed with a significant decrease in EAM, nevertheless, LL, SS and SSA showed significant decreases; and in type IV, C2-C7 showed a significant increase and EAM decreased significantly. The percentage of lordotic alignment in cervical spine increased, which was presenting in type I, III and IV. Nevertheless, the amount of patients with straight cervical alignment increased in type II. The backward movement of head occurs is the compensatory mechanism in cervical sagittal alignment modifications after ACDF. The compensatory alteration of spino-pelvic sagittal

  13. The relationship between changes of cervical sagittal alignment after anterior cervical discectomy and fusion and spino-pelvic sagittal alignment under roussouly classification: a four-year follow-up study

    Directory of Open Access Journals (Sweden)

    Dong-Ning Huang

    2017-02-01

    Full Text Available Abstract Background Anterior cervical discectomy and fusion (ACDF is widely used in the treatment of cervical degenerative disease; however, the variation of cervical sagittal alignment changes after ACDF has been rarely explored. The purpose of this study is to determine the relationship between changes of cervical sagittal alignment after ACDF and spino-pelvic sagittal alignment under Roussouly classification. Methods A cohort of 133 Chinese cervical spondylotic patients who received ACDF from 2011 to 2012 was recruited. All patients were categorized with Roussouly Classification. Lateral X-ray images of global spine were obtained, and preoperative and postoperative parameters were measured and analyzed, including C2–C7 angles (C2–C7, C0–C7 angles (C0–C7, external auditory meatus (EAM tilt, sacral slope (SS, thoracic kyphosis (TK, lumbar lordosis (LL, spinal sacral angles (SSA, Superior adjacent inter-vertebral angle (SAIV, inferior adjacent inter-vertebral angle (IAIV and et al. The Wilcoxon signed-rank test was used for intragroup comparisons preoperatively and at postoperative 48 months. Results Among the parameters, C2–C7 and C0–C7 showed significant increase, while EAM TK, and IAIV decreased significantly. In type I, EAM and TK decreased significantly, however SS showed a significant increase; in type II, TK showed a significant decrease, but SSA showed a significant increase; in type III, a significant increase of C0–C7 was observed with a significant decrease in EAM, nevertheless, LL, SS and SSA showed significant decreases; and in type IV, C2–C7 showed a significant increase and EAM decreased significantly. The percentage of lordotic alignment in cervical spine increased, which was presenting in type I, III and IV. Nevertheless, the amount of patients with straight cervical alignment increased in type II. Conclusion The backward movement of head occurs is the compensatory mechanism in cervical sagittal alignment

  14. Accuracy of the sagittal vertical axis in a standing lateral radiograph as a measurement of balance in spinal deformities

    NARCIS (Netherlands)

    van Royen, B.J.; Toussaint, H.M.; Kingma, I.; Bot, S.D.M.; Caspers, M.; Harlaar, J.

    1998-01-01

    Sagittal balance of the spine is becoming an important issue in the assessment of the degree of spinal deformity. On a standing lateral full- length radiograph of the spine, the plumb line, or sagittal vertical axis (SVA), can be used to determine the spinal sagittal balance. In this procedure

  15. Sagittal plane tilting deformity of the patellofemoral joint: a new concept in patients with chondromalacia patella.

    Science.gov (United States)

    Aksahin, Ertugrul; Aktekin, Cem Nuri; Kocadal, Onur; Duran, Semra; Gunay, Cüneyd; Kaya, Defne; Hapa, Onur; Pepe, Murad

    2017-10-01

    The aims of this study were to evaluate sagittal plane alignment in patients with chondromalacia patella via magnetic resonance imaging (MRI), analyse the relationships between the location of the patellar cartilaginous lesions and sagittal alignment and finally investigate the relationships between the sagittal plane malalignment and patellofemoral loadings using by finite element analysis. Fifty-one patients who were diagnosed with isolated modified Outerbridge grade 3-4 patellar chondromalacia based on MRI evaluation and 51 control subjects were evaluated. Chondromalacia patella patients were divided into three subgroups according to the chondral lesion location as superior, middle and inferior. The patella-patellar tendon angle (P-PT) was used for evaluation of sagittal alignment of patellofemoral joint. Each subgroup was compared with control group by using P-PT angle. To investigate the biomechanical effects of sagittal plane malpositioning on patellofemoral joint, bone models were created at 30°, 60° and 90° knee flexion by using mean P-PT angles, which obtained from patients with chondromalacia patellae and control subjects. The total loading and contact area values of the patellofemoral joints were investigated by finite element analysis. The mean age of all participants was 52.9 ± 8.2 years. The mean P-PT angle was significantly lower in chondromalacia group (142.1° ± 3.6°) compared to control group (144.5° ± 5.3°) (p = 0.008). Chondral lesions were located in superior, middle and inferior zones in 16, 20 and 15 patients, respectively. The mean P-PT angles in patients with superior (141.8 ± 2.7) and inferior subgroups (139.2 ± 2.3) were significantly lower than the values in the control group (p chondromalacia than in the control models at the same flexion degrees. There were increased loadings at 30° and 90° flexions in the sagittal patellar tilt models. This study revealed that sagittal plain malpositioning of the

  16. Does Receiving a Blood Transfusion Predict for Length of Stay in Children Undergoing Cranial Vault Remodeling for Craniosynostosis? Outcomes Using the Pediatric National Surgical Quality Improvement Program Dataset.

    Science.gov (United States)

    Markiewicz, Michael R; Alden, Tord; Momin, Mohmed Vasim; Olsson, Alexis B; Jurado, Ray J; Abdullah, Fizan; Miloro, Michael

    2017-08-01

    Recent interventions have aimed at reducing the need for blood transfusions in the perioperative period in patients with craniosynostosis undergoing cranial vault remodeling. However, little is known regarding whether the receipt of a blood transfusion influences the length of hospital stay. The purpose of this study was to assess whether the receipt of a blood transfusion in patients undergoing cranial vault remodeling is associated with an increased length of stay. To address the research purposes, we designed a retrospective cohort study using the 2014 Pediatric National Surgical Quality Improvement Program (NSQIP Peds) dataset. The primary predictor variable was whether patients received a blood transfusion during cranial vault remodeling. The primary outcome variable was length of hospital stay after the operation. The association between the receipt of blood transfusions and length of stay was assessed using the Student t test. The association between other covariates and the outcome variable was assessed using linear regression, analysis of variance, and the Tukey test for post hoc pair-wise comparisons. The sample was composed of 756 patients who underwent cranial vault remodeling: 503 who received blood transfusions and 253 who did not. The primary predictor variable of blood transfusion was associated with an increased length of stay (4.1 days vs 3.0 days, P = .03). Other covariates associated with an increased length of stay included race, American Society of Anesthesiologists status, premature birth, presence of a congenital malformation, and number of sutures involved in craniosynostosis. The receipt of a blood transfusion in the perioperative period in patients with craniosynostosis undergoing cranial vault remodeling was associated with an increased length of stay. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  17. X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate

    DEFF Research Database (Denmark)

    Kimani, Jane W; Shi, Min; Daack-Hirsch, Sandra

    2007-01-01

    Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X c...

  18. Non-syndromic multiple keratocyst odontogenic tumor: A rare case report

    Directory of Open Access Journals (Sweden)

    Abhijeet Alok

    2015-01-01

    Full Text Available Keratocystic odontogenic tumors (KCOTs are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBCCS. The condition is linked with mutation in the PTCH gene. Partial expression of the gene may result in occurrence of multiple recurring odontogenic keratocysts (OKCs. Although KCOTs are common in clinical practice, simultaneous occurrence of multiple cysts in both the maxilla and mandible of a patient is rare. These patients have early propensity to develop multiple neoplasms like basal cell carcinoma and medulloblastoma. Hence, early diagnosis and treatment is of utmost importance in reducing the severity of the long-term sequelae of NBCCS. We report a rare case of multiple KCOTs in a non-syndromic male patient, with emphasis on its diagnosis, radiographic features, and treatment.

  19. Superior sagittal sinus thrombosis: a rare complication in a child with nephrotic syndrome

    International Nuclear Information System (INIS)

    Pirogovsky, A.; Adi, M.; Barzilai, N.; Dagan, A.; Sinai, L.; Sthoeger, D.; Tabachnik, E.

    2001-01-01

    A 2-year-old boy with new-onset nephrotic syndrome developed recurrent vomiting, apathy and papilloedema. Superior sagittal sinus thrombosis was diagnosed on cranial CT and MRI. He gradually recovered after treatment with heparin, fresh frozen plasma and warfarin with complete resolution of the thrombosis after 1 month. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome in children. Early diagnosis is essential for institution of anticoagulation therapy and a successful outcome. (orig.)

  20. Superior sagittal sinus thrombosis: a rare complication in a child with nephrotic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Pirogovsky, A.; Adi, M.; Barzilai, N. [Dept. of Radiology, Kaplan Medical Center, Rehovot (Israel); Dagan, A.; Sinai, L.; Sthoeger, D. [Div. of Paediatrics, Kaplan Medical Center, Rehovot (Israel); Tabachnik, E. [Div. of Paediatrics, Kaplan Medical Center, Rehovot (Israel); Paediatric ICU, Kaplan Hospital, Rehovot (Israel)

    2001-10-01

    A 2-year-old boy with new-onset nephrotic syndrome developed recurrent vomiting, apathy and papilloedema. Superior sagittal sinus thrombosis was diagnosed on cranial CT and MRI. He gradually recovered after treatment with heparin, fresh frozen plasma and warfarin with complete resolution of the thrombosis after 1 month. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome in children. Early diagnosis is essential for institution of anticoagulation therapy and a successful outcome. (orig.)

  1. Does Shoe Collar Height Influence Ankle Joint Kinematics and Kinetics in Sagittal Plane Maneuvers?

    Science.gov (United States)

    Yang, Yang; Fang, Ying; Zhang, Xini; He, Junliang; Fu, Weijie

    2017-01-01

    The Objective of the study is to investigate the effects of basketball shoes with different collar heights on ankle kinematics and kinetics and athletic performance in different sagittal plane maneuvers. Twelve participants who wore high-top and low-top basketball shoes (hereafter, HS and LS, respectively) performed a weight-bearing dorsiflexion (WB-DF) maneuver, drop jumps (DJs), and lay-up jumps (LJs). Their sagittal plane kinematics and ground reaction forces were recorded using the Vicon motion capture system and Kistler force plates simultaneously. Moreover, ankle dorsiflexion and plantarflexion angles, moment, power, stiffness, and jump height were calculated. In the WB-DF test, the peak ankle dorsiflexion angle (p = 0.041) was significantly smaller in HS than in LS. Additionally, the peak ankle plantarflexion moment (p = 0.028) and power (p = 0.022) were significantly lower in HS than in LS during LJs but not during DJs. In both jumping maneuvers, no significant differences were found in the jump height or ankle kinematics between the two shoe types. According to the WB-DF test, increasing shoe collar height can effectively reduce the ankle range of motion in the sagittal plane. Although the HS did not restrict the flexion–extension performance of the ankle joint during two jumping maneuvers, an increased shoe collar height can reduce peak ankle plantarflexion moment and peak power during the push-off phase in LJs. Therefore, a higher shoe collar height should be used to circumvent effects on the partial kinetics of the ankle joint in the sagittal plane. Key points An increased shoe collar height effectively reduced ankle joint ROM in the sagittal plane in weight-bearing dorsiflexion maneuver. Shoe collar height did not affect sagittal plane ankle kinematics and had no effect on performance during realistic jumping. Shoe collar height can affect the ankle plantarflexion torque and peak power during the push-off phase in lay-up jump. PMID:29238255

  2. Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance.

    Science.gov (United States)

    Russell-Eggitt, I M

    2000-12-01

    When an X-linked pedigree of posterior lenticonus with cataract was identified further evidence for X-linked inheritance of this condition was sought. Forty-three cases of posterior lenticonus were identified from a database of 354 children with cataract. Two children with the X-linked syndromes of Lowe and Nance-Horan and 3 children with Fanconi syndrome have been excluded from further analysis. None of the children was deaf. None of the non-syndromic cases had microcornea. There were 38 cases of non-syndromic posterior lenticonus (approximately 11%). There were 15 children from 13 pedigrees and 23 apparently sporadic cases. Of the 106 cases on the database with unilateral cataract 15 had posterior lenticonus (approximately 14%). Eleven of 13 pedigrees were compatible with X-linked inheritance or autosomal dominant inheritance with variable expression. However, in 2 pedigrees there was father to son transmission. Posterior lenticonus is a common cause of unilateral infantile cataract, but is thought to be a rare cause of bilateral cataracts. This study suggests that posterior lenticonus is responsible for a significant proportion of childhood cataracts (approximately 14% of unilateral and approximately 9% of bilateral cases). Posterior lenticonus is generally thought to occur as a sporadic condition. This study demonstrates that there is a family history of early-onset cataract in a significant number of bilateral cases (approximately 58%).

  3. Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)

    Energy Technology Data Exchange (ETDEWEB)

    Shiang, R. (Univ. of California, Irvine, CA (United States)); Lidral, A.C.; Ardinger, H.H.; Murray, J.C.; Romitti, P.A.; Munger, R.G.; Buetow, K.H.

    1993-10-01

    Genetic analysis and tissue-specific expression studies support a role for transforming growth-factor alpha (TGFA) in craniofacial development. Previous studies have confirmed an association of alleles for TGFA with nonsyndromic cleft lip with or without cleft palate (CL/P) in humans. The authors carried out a retrospective association study to determine whether specific allelic variants of the TGFA gene are also associated with cleft palate only (CPO). The PCR products from 12 overlapping sets of primers to the TGFA cDNA were examined by using single-strand conformational polymorphism analysis. Four DNA polymorphic sites for TGFA were identified in the 3[prime] untranslated region of the TGFA gene. These variants, as well as previously identified RFLPs for TGFA, were characterized in case and control populations for CPO by using X[sup 2] analysis. A significant association between alleles of TGFA and CPO was identified which further supports a role for this gene as one of the genetic determinants of craniofacial development. Sequence analysis of the variants disclosed a cluster of three variable sites within 30 bp of each other in the 3[prime] untranslated region previously associated with an antisense transcript. These studies extend the role for TGFA in craniofacial morphogenesis and support an interrelated mechanism underlying nonsyndromic forms of CL/P. 46 refs., 3 figs., 3 tabs.

  4. Sagittal alignment and complications following lumbar 3-column osteotomy: does the level of resection matter?

    Science.gov (United States)

    Ferrero, Emmanuelle; Liabaud, Barthelemy; Henry, Jensen K; Ames, Christopher P; Kebaish, Khaled; Mundis, Gregory M; Hostin, Richard; Gupta, Munish C; Boachie-Adjei, Oheneba; Smith, Justin S; Hart, Robert A; Obeid, Ibrahim; Diebo, Bassel G; Schwab, Frank J; Lafage, Virginie

    2017-11-01

    OBJECTIVE Three-column osteotomy (3CO) is a demanding technique that is performed to correct sagittal spinal malalignment. However, the impact of the 3CO level on pelvic or truncal sagittal correction remains unclear. In this study, the authors assessed the impact of 3CO level and postoperative apex of lumbar lordosis on sagittal alignment correction, complications, and revisions. METHODS In this retrospective study of a multicenter spinal deformity database, radiographic data were analyzed at baseline and at 1- and 2-year follow-up to quantify spinopelvic alignment, apex of lordosis, and resection angle. The impact of 3CO level and apex level of lumbar lordosis on the sagittal correction was assessed. Logistic regression analyses were performed, controlling for cofounders, to investigate the effects of 3CO level and apex level on intraoperative and postoperative complications as well as on the need for subsequent revision surgery. RESULTS A total of 468 patients were included (mean age 60.8 years, mean body mass index 28.1 kg/m 2 ); 70% of patients were female. The average 3CO resection angle was 25.1° and did not significantly differ with regard to 3CO level. There were no significant correlations between the 3CO level and amount of sagittal vertical axis or pelvic tilt correction. The postoperative apex level significantly correlated with greater correction of pelvic tilt (2° per more caudal level, R = -0.2, p = 0.006). Lower-level 3CO significantly correlated with revisions for pseudarthrosis (OR = 3.88, p = 0.001) and postoperative motor deficits (OR = 2.02, p = 0.026). CONCLUSIONS In this study, a more caudal lumbar 3CO level did not lead to greater sagittal vertical axis correction. The postoperative apex of lumbar lordosis significantly impacted pelvic tilt. 3CO levels that were more caudal were associated with more postoperative motor deficits and revisions.

  5. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

    Directory of Open Access Journals (Sweden)

    Lisenka E L M Vissers

    2011-09-01

    Full Text Available The premature fusion of the paired frontal bones results in metopic craniosynostosis (MC and gives rise to the clinical phenotype of trigonocephaly. Deletions of chromosome 9p22.3 are well described as a cause of MC with variably penetrant midface hypoplasia. In order to identify the gene responsible for the trigonocephaly component of the 9p22.3 syndrome, a cohort of 109 patients were assessed by high-resolution arrays and MLPA for copy number variations (CNVs involving 9p22. Five CNVs involving FREM1, all of which were de novo variants, were identified by array-based analyses. The remaining 104 patients with MC were then subjected to targeted FREM1 gene re-sequencing, which identified 3 further mutant alleles, one of which was de novo. Consistent with a pathogenic role, mouse Frem1 mRNA and protein expression was demonstrated in the metopic suture as well as in the pericranium and dura mater. Micro-computed tomography based analyses of the mouse posterior frontal (PF suture, the human metopic suture equivalent, revealed advanced fusion in all mice homozygous for either of two different Frem1 mutant alleles, while heterozygotes exhibited variably penetrant PF suture anomalies. Gene dosage-related penetrance of midfacial hypoplasia was also evident in the Frem1 mutants. These data suggest that CNVs and mutations involving FREM1 can be identified in a significant percentage of people with MC with or without midface hypoplasia. Furthermore, we present Frem1 mutant mice as the first bona fide mouse model of human metopic craniosynostosis and a new model for midfacial hypoplasia.

  6. Bad splits in bilateral sagittal split osteotomy: systematic review of fracture patterns.

    Science.gov (United States)

    Steenen, S A; Becking, A G

    2016-07-01

    An unfavourable and unanticipated pattern of the mandibular sagittal split osteotomy is generally referred to as a 'bad split'. Few restorative techniques to manage the situation have been described. In this article, a classification of reported bad split pattern types is proposed and appropriate salvage procedures to manage the different types of undesired fracture are presented. A systematic review was undertaken, yielding a total of 33 studies published between 1971 and 2015. These reported a total of 458 cases of bad splits among 19,527 sagittal ramus osteotomies in 10,271 patients. The total reported incidence of bad split was 2.3% of sagittal splits. The most frequently encountered were buccal plate fractures of the proximal segment (types 1A-F) and lingual fractures of the distal segment (types 2A and 2B). Coronoid fractures (type 3) and condylar neck fractures (type 4) have seldom been reported. The various types of bad split may require different salvage approaches. Copyright © 2016 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  7. Influence of the sagittal anatomy of the pelvis on the intercrestal line position.

    Science.gov (United States)

    Horduna, M; Legaye, J

    2008-03-01

    The line joining the two iliac crests is classically regarded as the anatomical landmark determining the inter-vertebral space L4-L5 for the spinal punctures. Its variability has been reported but never related to predictive clinical anatomic factors identifying patients groups in which there is increased risk of miscalculation of the spinal level. Two sagittal pelvic anatomical angles, called 'pelvic incidence' and 'pelvic lordosis' were measured on lateral X-rays of the pelvis of 132 normal individuals and 49 spondylolysis patients. The values were compared with the sagittal projection of the intercrestal line on the disco-vertebral lumbar structures. A strict relation was observed between this projection of the intercrestal line and the sagittal pelvic anatomical angles. The greater the pelvic incidence, the higher the intercrestal line was projected, all the more in patients with spondylolysis with a listhesis or a disc narrowing. The relation between the pelvic sagittal angles and the intercrestal line projection explains the variability described for this anatomical landmark. It implies precautions minimizing neurological risk in the case of a puncture carried out more cranially than expected, particularly for high values of pelvic incidence occurring in spinal pathologies such as spondylolysis, in the elderly or in the obese patients. In these cases, we recommend the use of spinal imaging during the procedure to assist selection of the desired insertion level.

  8. [Connexin gene 26 (GJB2) mutations in patients with hereditary non-syndromic sensorineural loss of hearing in the Republic of Sakha (Yakutia)].

    Science.gov (United States)

    Barashkov, N A; Dzhemileva, L U; Fedorova, S A; Maksimova, N R; Khusnutdinova, E K

    2008-01-01

    The aim of the study was to elucidate the causes of hereditary non-syndromic loss of hearing, a frequent monogene pathology in the Republic of Sakha (Yakutia). A search for mutations in the coding sequence of the connexin 26 gene gap-junction B2 (GJB2) was undertaken in 79 members of 65 unrelated families with the diagnosis of grade III-IV non-syndromic bilateral sensorineural loss of hearing. Five recessive mutations (35delG, V371, 312-326del14, 333-334delAA, R127H) and three polymorphic variants (V271, M34T, E114G) were identified in Yakut patients. Mutations 35delG (41.7%), 312-326dell4 (4.2%), and 333-334delAA (4.2%) were found in Caucasian patients (Russians, Ukrainians, Inguish). Yakuts were carriers of mutations 35delG (2.1%), V371 (2.1%), R127H (1.0%) and sequence variants V271 (6.3%), M34T (1.0%), E114G (1.0%). GJB2 mutations were identified in 50.1% of the Caucasian patients and in 7.2% of the Yakut patients. The low frequency of GJB2 mutations in Yakuts with non-syndromic sensorineural loss of hearing testifies to the presence of mutations of other genes controlling sound perception in this population.

  9. Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.

    Science.gov (United States)

    Niepokój, Katarzyna; Rygiel, Agnieszka M; Jurczak, Piotr; Kujko, Aleksandra A; Śniegórska, Dominika; Sawicka, Justyna; Grabarczyk, Alicja; Bal, Jerzy; Wertheim-Tysarowska, Katarzyna

    2018-02-01

    Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic. After excluding mutations in the DFNB1 locus, we implemented the next-generation sequencing method and revealed that hearing loss was syndromic and mutations in the USH2A gene indicate Usher syndrome. This research highlights the importance of molecular analysis in establishing a clinical diagnosis of congenital hearing loss.

  10. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

    Science.gov (United States)

    Lenassi, Eva; Vincent, Ajoy; Li, Zheng; Saihan, Zubin; Coffey, Alison J; Steele-Stallard, Heather B; Moore, Anthony T; Steel, Karen P; Luxon, Linda M; Héon, Elise; Bitner-Glindzicz, Maria; Webster, Andrew R

    2015-01-01

    Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we screened USH2A in 186 probands with recessive retinal disease and no hearing complaint in childhood (discovery cohort) and in 84 probands with recessive retinal disease (replication cohort). Detailed phenotyping, including retinal imaging and audiological assessment, was performed in individuals with two likely disease-causing USH2A variants. Further genetic testing, including screening for a deep-intronic disease-causing variant and large deletions/duplications, was performed in those with one likely disease-causing change. Overall, 23 of 186 probands (discovery cohort) were found to harbour two likely disease-causing variants in USH2A. Some of these variants were predominantly associated with nonsyndromic retinal degeneration (‘retinal disease-specific'); these included the common c.2276 G>T, p.(Cys759Phe) mutation and five additional variants: c.2802 T>G, p.(Cys934Trp); c.10073 G>A, p.(Cys3358Tyr); c.11156 G>A, p.(Arg3719His); c.12295-3 T>A; and c.12575 G>A, p.(Arg4192His). An allelic hierarchy was observed in the discovery cohort and confirmed in the replication cohort. In nonsyndromic USH2A disease, retinopathy was consistent with retinitis pigmentosa and the audiological phenotype was variable. USH2A retinopathy is a common cause of nonsyndromic recessive retinal degeneration and has a different mutational spectrum to that observed in Usher syndrome. The following model is proposed: the presence of at least one ‘retinal disease-specific' USH2A allele in a patient with USH2A-related disease results in the preservation of normal hearing. Careful genotype–phenotype studies such as this will become increasingly important, especially now that high-throughput sequencing is widely used in the clinical setting. PMID:25649381

  11. Reliability of the xipho-pubic angle in patients with sagittal imbalance of the spine.

    Science.gov (United States)

    Langella, Francesco; Villafañe, Jorge H; Ismael, Maryem; Buric, Josip; Piazzola, Andrea; Lamartina, Claudio; Berjano, Pedro

    2018-04-01

    Proximal junctional kyphosis (PJK) is a frequent complication that compromises the outcomes of spinal surgery, especially for adult deformity. To the date no single risk factor or cause has been identified that explains its occurrence. The purpose of this study was to investigate the test-retest reliability of the radiologic measurements using xipho-pubic angle (XPA) for subjects undergoing surgery for sagittal misalignment of the spine. Retrospective observational cross-sectional study of prospectively collected data. Full-spine standing lateral radiographs of 50 patients who underwent surgery for fixed sagittal imbalance (preoperative and postoperative) were evaluated. Internal consistency, reproducibility, concurrent validity, and discriminative ability of the XPA. Two physicians measured XPA on the 100 randomly sorted and anonymized radiographs on two occasions, one week apart (test and retest conditions), were calculated for inter and intraobserver agreement. Test-retest reliability of XPA measurement was excellent for pre- (ICC=0.98; P=0.001) and post-surgical (ICC=0.86; P=0.001) radiographs of subjects with sagittal imbalance of the spine. XPA was able to discriminate between preoperative and postoperative radiographs F=17.924, Pimbalance for both raters. There were significant differences between pre- vs. postoperative XPA, pelvic tilt, lumbar lordosis and sagittal vertical axis values (all Pimbalance.

  12. Relationship between thoracic hypokyphosis, lumbar lordosis and sagittal pelvic parameters in adolescent idiopathic scoliosis.

    Science.gov (United States)

    Clément, Jean-Luc; Geoffray, Anne; Yagoubi, Fatima; Chau, Edouard; Solla, Federico; Oborocianu, Ioana; Rampal, Virginie

    2013-11-01

    Sagittal spine and pelvic alignment of adolescent idiopathic scoliosis (AIS) is poorly described in the literature. It generally reports the sagittal alignment with regard to the type of curve and never correlated to the thoracic kyphosis. The objective of this study is to investigate the relationship between thoracic kyphosis, lumbar lordosis and sagittal pelvic parameters in thoracic AIS. Spinal and pelvic sagittal parameters were evaluated on lateral radiographs of 86 patients with thoracic AIS; patients were separated into hypokyphosis group (n = 42) and normokyphosis group (n = 44). Results were statistically analyzed. The lumbar lordosis was lower in the hypokyphosis group, due to the low proximal lordosis. The thoracic kyphosis was not correlated with any pelvic parameters but with the proximal lordosis. The pelvic incidence was correlated with sacral slope, pelvic tilt, lumbar lordosis and highly correlated with distal lumbar lordosis in the two groups. There was a significant linear regression between thoracic kyphosis and proximal lordosis and between pelvic incidence and distal lordosis. We can consider that the proximal part of the lordosis depends on the thoracic kyphosis and the distal part depends on the pelvic incidence. The hypokyphosis in AIS is independent of the pelvic parameters and could be described as a structural parameter, characteristic of the scoliotic deformity.

  13. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

    DEFF Research Database (Denmark)

    Freude, Kristine; Hoffmann, Kirsten; Jensen, Lars-Riff

    2004-01-01

    Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that approximately 30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening...

  14. Extensor Tendon Instability Due to Sagittal Band Injury in a Martial Arts Athlete: A Case Report.

    Science.gov (United States)

    Kochevar, Andrew; Rayan, Ghazi

    2017-03-01

    A Taekwondo participant sustained a hand injury from punching an opponent that resulted in painful instability of the ring finger extensor digitorum communis tendon due to sagittal band damage. His symptoms resolved after reconstructive surgery on the sagittal band (SB) with stabilization of the extensor tendon over the metacarpophalangeal joint.

  15. Anterior sagittal transanorectal approach to the posterior urethra in the pediatric age group.

    Science.gov (United States)

    Rossi, F; De Castro, R; Ceccarelli, P L; Dòmini, R

    1998-09-01

    Surgical access to the posterior urethra is often difficult and several surgical solutions have been proposed. We suggest an anterior sagittal transanorectal approach based on splitting the anterior rectal wall only. This alternative technique provides excellent exposure to the retrourethral region, permitting simple and safe surgery. Between 1994 and 1996 we performed surgery via the anterior sagittal transanorectal approach in 8 patients with a mean age of 9.06 years. Patients included 1 girl with a posttraumatic urethrovaginal fistula, 3 with intersex disorders (2 with mixed gonadal dysgenesis raised as boys and 1 with male dysgenetic pseudohermaphroditism with an enlarged urtricle) and 4 boys (1 with penile agenesis raised as girl, 2 with urethral duplication and 1 with prostatic rhabdomyosarcoma). The patient was placed in a knee-chest position. A midline sagittal incision was made through the anterior anorectal wall only and deepened through the perineal body to expose the posterior urethra and retrovesical space. After the pathological condition was corrected the anterior rectal wall and perineal body were reconstructed. The operation was completed with protective colostomy. In our final patient with prostatic rhabdomyosarcoma the anterior sagittal transanorectal approach was used without colostomy. Anorectal manometry was done 6 months postoperatively. All patients were completely continent of stool and urine. Convalescence was unremarkable in all cases. Postoperative manometry in 7 patients revealed no differences from preoperative measurements. This procedure should be considered a useful alternative to other techniques for various congenital and acquired pelvic disorders.

  16. Impact of sagittal spinopelvic alignment on clinical outcomes after decompression surgery for lumbar spinal canal stenosis without coronal imbalance.

    Science.gov (United States)

    Hikata, Tomohiro; Watanabe, Kota; Fujita, Nobuyuki; Iwanami, Akio; Hosogane, Naobumi; Ishii, Ken; Nakamura, Masaya; Toyama, Yoshiaki; Matsumoto, Morio

    2015-10-01

    The object of this study was to investigate correlations between sagittal spinopelvic alignment and improvements in clinical and quality-of-life (QOL) outcomes after lumbar decompression surgery for lumbar spinal canal stenosis (LCS) without coronal imbalance. The authors retrospectively reviewed data from consecutive patients treated for LCS with decompression surgery in the period from 2009 through 2011. They examined correlations between preoperative or postoperative sagittal vertical axis (SVA) and radiological parameters, clinical outcomes, and health-related (HR)QOL scores in patients divided according to SVA. Clinical outcomes were assessed according to Japanese Orthopaedic Association (JOA) and visual analog scale (VAS) scores. Health-related QOL was evaluated using the Roland-Morris Disability Questionnaire (RMDQ) and the JOA Back Pain Evaluation Questionnaire (JOABPEQ). One hundred nine patients were eligible for inclusion in the study. Compared to patients with normal sagittal alignment prior to surgery (Group A: SVA imbalance (Group B: SVA ≥ 50 mm) had significantly smaller lumbar lordosis and thoracic kyphosis angles and larger pelvic tilt. In Group B, there was a significant decrease in postoperative SVA compared with the preoperative SVA (76.3 ± 29.7 mm vs. 54.3 ± 39.8 mm, p = 0.004). The patients in Group B with severe preoperative sagittal imbalance (SVA > 80 mm) had residual sagittal imbalance after surgery (82.8 ± 41.6 mm). There were no significant differences in clinical and HRQOL outcomes between Groups A and B. Compared to patients with normal postoperative SVA (Group C: SVA imbalance. Decompression surgery improved the SVA value in patients with preoperative sagittal imbalance; however, the patients with severe preoperative sagittal imbalance (SVA > 80 mm) had residual imbalance after decompression surgery. Both clinical and HRQOL outcomes were negatively affected by postoperative residual sagittal imbalance.

  17. Alphabet Soup: Sagittal Balance Correction Osteotomies of the Spine-What Radiologists Should Know.

    Science.gov (United States)

    Takahashi, T; Kainth, D; Marette, S; Polly, D

    2018-04-01

    Global sagittal malalignment has been demonstrated to have correlation with clinical symptoms and is a key component to be restored in adult spinal deformity. In this article, various types of sagittal balance-correction osteotomies are reviewed primarily on the basis of the 3 most commonly used procedures: Smith-Petersen osteotomy, pedicle subtraction osteotomy, and vertebral column resection. Familiarity with the expected imaging appearance and commonly encountered complications seen on postoperative imaging studies following correction osteotomies is crucial for accurate image interpretation. © 2018 by American Journal of Neuroradiology.

  18. Evaluation of uterine peristalsis using cine MRI on the coronal plane in comparison with the sagittal plane.

    Science.gov (United States)

    Shitano, Fuki; Kido, Aki; Kataoka, Masako; Fujimoto, Koji; Kiguchi, Kayo; Fushimi, Yasutaka; Togashi, Kaori

    2016-01-01

    Uterine peristalsis is supposed to be closely related to the early stages of reproduction. Sperms are preferentially transported from the uterine cervix to the side of the tube with the dominant follicle. However, with respect to magnetic resonance imaging (MRI), uterine peristalsis has only been evaluated at the sagittal plane of cine MRI. To evaluate and compare uterine peristalsis both on sagittal and coronal planes using cine MRI. Internal ethics committee approval was obtained, and subjects provided informed written consent. Thirty-one women underwent MRI scans in the periovulatory phase of the menstrual cycle. Cine MR images obtained by fast advanced spin echo sequence at 3-T field strength magnet (Toshiba Medical Systems) were visually evaluated by two independent radiologists. The frequency and the direction of peristalsis, and the presence of outer myometrium conduction of signal intensities (OMC), were evaluated. The laterality of the dominant follicle was determined on axial images and compared with the peristaltic direction in fundus. The subjects in which peristaltic directions were more clearly recognized were significantly frequent in coronal planes than in sagittal planes (P < 0.05). There was no significant difference in the peristaltic frequency between the sagittal and the coronal plane. However, the OMC was more recognized in the coronal plane than in the sagittal plane (P < 0.05). Peristaltic waves conducted toward the possible ovulation side were observed in only three of the 10 subjects. OMC of uterine peristalsis was better demonstrated in the coronal plane compared to the sagittal plane. © The Foundation Acta Radiologica 2015.

  19. Gender difference of ankle stability in the sagittal and frontal planes.

    Science.gov (United States)

    Hanzlick, Harrison; Hyunglae Lee

    2017-07-01

    This paper offers quantification of ankle stability in relation to simulated haptic environments of varying stiffness. This study analyzes the stability trends of male and female subjects independently over a wide range of simulated environments after subjects were exposed to vigorous position perturbation. Ankle stability was quantified for both degrees-of-freedom of the ankle in the sagittal and frontal planes. Subjects' stability consistently decreased when exposed to environments of negative simulated stiffness. In the frontal plane, male and female subjects exhibited nearly identical stability levels. In the sagittal plane, however, male subjects demonstrated marginally more stability than female subjects in environments with negative stiffness. Results of this study are beneficial to understanding situations in which the ankle is likely to lose stability, potentially resulting in injury.

  20. Surgery: Modified Pi with Triple-Bonnet Flap and Fronto-Orbital Advancement.

    Science.gov (United States)

    Singh Raswan, Uday; Singh Chhiber, Sarbjit; Ramzan, Altaf Umar

    2017-01-01

    Craniosynostosis is the premature fusion of one or more of the cranial sutures and can occur as part of a syndrome or as an isolated defect. Pansynostosis is a rare form of craniosynostosis that involves premature fusion of all the cranial sutures (coronal, sagittal, metopic, and occipital). Particularly in cases of late presentation, there are heightened clinical concerns, both functional and aesthetic. In untreated cases of pansynostosis and increased intracranial pressure, optic nerve damage progresses to optic atrophy and then blindness. Cranial vault reconstruction is the standard surgical treatment. We attempt to highlight the importance of modifying the osteotomies and reshaping of the cranial vault based on individual requirements in order to achieve the best possible result and to prevent catastrophic blood loss. We present a case of modified pi with triple-bonnet flap and fronto-orbital advancement, an individual modification of the techniques of cranial vault reconstruction, in a patient with pansynostosis with optic atrophy. The technical variation can be applied to any case of pansynostosis requiring cranial vault reconstruction. © 2017 S. Karger AG, Basel.

  1. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.

    Science.gov (United States)

    Pierrache, Laurence H M; Hartel, Bas P; van Wijk, Erwin; Meester-Smoor, Magda A; Cremers, Frans P M; de Baere, Elfride; de Zaeytijd, Julie; van Schooneveld, Mary J; Cremers, Cor W R J; Dagnelie, Gislin; Hoyng, Carel B; Bergen, Arthur A; Leroy, Bart P; Pennings, Ronald J E; van den Born, L Ingeborgh; Klaver, Caroline C W

    2016-05-01

    USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. Clinic-based, longitudinal, multicenter study. Consecutive patients with Usher syndrome type IIa (n = 152) and nonsyndromic RP (n = 73) resulting from USH2A mutations from ophthalmogenetic clinics in the Netherlands and Belgium. Data on clinical characteristics, visual acuity, visual field measurements, retinal imaging, and electrophysiologic features were extracted from medical charts over a mean follow-up of 9 years. Cumulative lifetime risks of low vision and blindness were estimated using Kaplan-Meier survival analysis. Low vision and blindness. Participant groups had similar distributions of gender (48% vs. 45% males in Usher syndrome type IIa vs. nonsydromic RP; P = 0.8), ethnicity (97% vs. 99% European; P = 0.3), and median follow-up time (6.5 years vs. 3 years; P = 0.3). Usher syndrome type IIa patients demonstrated symptoms at a younger age (median age, 15 years vs. 25 years; P syndromic phenotype, whereas other combinations were present in both groups. We found novel variants in Usher syndrome type IIa (25%) and nonsyndromic RP (19%): 29 missense mutations, 10 indels, 14 nonsense mutations, 9 frameshift mutations, and 5 splice-site mutations. Most patients with USH2A-associated RP have severe visual impairment by age 50. However, those with Usher syndrome type IIa have an earlier decline of visual function and a higher cumulative risk of visual impairment than those without nonsyndromic RP. Complete loss of function of the USH2A protein predisposes to Usher syndrome type IIa, but remnant protein function can lead to RP with or without hearing loss. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  2. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

    Science.gov (United States)

    Griesi-Oliveira, Karina; Acab, Allan; Gupta, Abha R.; Sunaga, Daniele Yumi; Chailangkarn, Thanathom; Nicol, Xavier; Nunez, Yanelli; Walker, Michael F.; Murdoch, John D.; Sanders, Stephan J.; Fernandez, Thomas V.; Ji, Weizhen; Lifton, Richard P.; Vadasz, Estevão; Dietrich, Alexander; Pradhan, Dennis; Song, Hongjun; Ming, Guo-li; Guoe, Xiang; Haddad, Gabriel; Marchetto, Maria C. N.; Spitzer, Nicholas; Passos-Bueno, Maria Rita; State, Matthew W.; Muotri, Alysson R.

    2014-01-01

    An increasing number of genetic variants have been implicated in autism spectrum disorders (ASD), and the functional study of such variants will be critical for the elucidation of autism pathophysiology. Here, we report a de novo balanced translocation disruption of TRPC6, a cation channel, in a non-syndromic autistic individual. Using multiple models, such as dental pulp cells, iPSC-derived neuronal cells and mouse models, we demonstrate that TRPC6 reduction or haploinsufficiency leads to altered neuronal development, morphology, and function. The observed neuronal phenotypes could then be rescued by TRPC6 complementation and by treatment with IGF1 or hyperforin, a TRPC6-specific agonist, suggesting that ASD individuals with alterations in this pathway might benefit from these drugs. We also demonstrate that MeCP2 levels affect TRPC6 expression. Mutations in MeCP2 cause Rett syndrome, revealing common pathways among ASDs. Genetic sequencing of TRPC6 in 1041 ASD individuals and 2872 controls revealed significantly more nonsynonymous mutations in the ASD population, and identified loss-of-function mutations with incomplete penetrance in two patients. Taken together, these findings suggest that TRPC6 is a novel predisposing gene for ASD that may act in a multiple-hit model. This is the first study to use iPSC-derived human neurons to model non-syndromic ASD and illustrate the potential of modeling genetically complex sporadic diseases using such cells. PMID:25385366

  3. Video raster stereography back shape reconstruction: a reliability study for sagittal, frontal, and transversal plane parameters.

    Science.gov (United States)

    Schroeder, J; Reer, R; Braumann, K M

    2015-02-01

    As reliability of raster stereography was proved only for sagittal plane parameters with repeated measures on the same day, the present study was aiming at investigating variability and reliability of back shape reconstruction for all dimensions (sagittal, frontal, transversal) and for different intervals. For a sample of 20 healthy volunteers, intra-individual variability (SEM and CV%) and reliability (ICC ± 95% CI) were proved for sagittal (thoracic kyphosis, lumbar lordosis, pelvis tilt angle, and trunk inclination), frontal (pelvis torsion, pelvis and trunk imbalance, vertebral side deviation, and scoliosis angle), transversal (vertebral rotation), and functional (hyperextension) spine shape reconstruction parameters for different test-retest intervals (on the same day, between-day, between-week) by means of video raster stereography. Reliability was high for the sagittal plane (pelvis tilt, kyphosis and lordosis angle, and trunk inclination: ICC > 0.90), and good to high for lumbar mobility (0.86 < ICC < 0.97). Apart from sagittal plane spinal alignment, there was a lack of certainty for a high reproducibility indicated by wider ICC confidence intervals. So, reliability was fair to high for vertebral side deviation and the scoliosis angle (0.71 < ICC < 0.95), and poor to good for vertebral rotation values as well as for frontal plane upper body and pelvis position parameters (0.65 < ICC < 0.92). Coefficients for the between-day and between-week interval were a little lower than for repeated measures on the same day. Variability (SEM) was less than 1.5° or 1.5 mm, except for trunk inclination. Relative variability (CV) was greater in global trunk position and pelvis parameters (35-98%) than in scoliosis (14-20%) or sagittal sway parameters (4-8 %). Although we found a lower reproducibility for the frontal plane, raster stereography is considered to be a reliable method for the non-invasive, three-dimensional assessment of spinal alignment in normal non

  4. Postural Consequences of Cervical Sagittal Imbalance: A Novel Laboratory Model.

    Science.gov (United States)

    Patwardhan, Avinash G; Havey, Robert M; Khayatzadeh, Saeed; Muriuki, Muturi G; Voronov, Leonard I; Carandang, Gerard; Nguyen, Ngoc-Lam; Ghanayem, Alexander J; Schuit, Dale; Patel, Alpesh A; Smith, Zachary A; Sears, William

    2015-06-01

    A biomechanical study using human spine specimens. To study postural compensations in lordosis angles that are necessary to maintain horizontal gaze in the presence of forward head posture and increasing T1 sagittal tilt. Forward head posture relative to the shoulders, assessed radiographically using the horizontal offset distance between the C2 and C7 vertebral bodies (C2-C7 [sagittal vertical alignment] SVA), is a measure of global cervical imbalance. This may result from kyphotic alignment of cervical segments, muscle imbalance, as well as malalignment of thoracolumbar spine. Ten cadaveric cervical spines (occiput-T1) were tested. The T1 vertebra was anchored to a tilting and translating base. The occiput was free to move vertically but its angular orientation was constrained to ensure horizontal gaze regardless of sagittal imbalance. A 5-kg mass was attached to the occiput to mimic head weight. Forward head posture magnitude and T1 tilt were varied and motions of individual vertebrae were measured to calculate C2-C7 SVA and lordosis across C0-C2 and C2-C7. Increasing C2-C7 SVA caused flexion of lower cervical (C2-C7) segments and hyperextension of suboccipital (C0-C1-C2) segments to maintain horizontal gaze. Increasing kyphotic T1 tilt primarily increased lordosis across the C2-C7 segments. Regression models were developed to predict the compensatory C0-C2 and C2-C7 angulation needed to maintain horizontal gaze given values of C2-C7 SVA and T1 tilt. This study established predictive relationships between radiographical measures of forward head posture, T1 tilt, and postural compensations in the cervical lordosis angles needed to maintain horizontal gaze. The laboratory model predicted that normalization of C2-C7 SVA will reduce suboccipital (C0-C2) hyperextension, whereas T1 tilt reduction will reduce the hyperextension in the C2-C7 segments. The predictive relationships may help in planning corrective strategy in patients experiencing neck pain, which may be

  5. A morphological description of the sagittal otoliths of two mormyrids ...

    African Journals Online (AJOL)

    The morphology of the sagittal otoliths of two South African mormyrid fish, Marcusenius macrolepidotus and Petrocephalus catostoma, were studied to determine possible morphological significance. The sagittae of M. macrolepidotus and P. catostoma are kidney-shaped and oblong, respectively. The ventral margin is ...

  6. Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Wyszynski, D.F. [Johns Hopkins Univ., Baltimore, MD (United States)]|[National Center for Human Genome Research, Bethesda, MD (United States); Lewanda, A.F. [Johnson Hopkins Hospital, Baltimore, MD (United States)]|[Children`s National Medical Center, Washington, DC (United States); Beaty, T.H. [Johns Hopkins Univ., Balitomre, MD (United States)

    1996-12-30

    Despite considerable research, the cause of non-syndromic cleft lip with or without cleft palate (NSCLP) is still an enigma. Case-control and cohort studies have searched for environmental factors that might influence the development of this common malformation, such as maternal cigarette smoking, periconceptional supplementation of folic acid and multivitamins, agricultural chemical use, and place of residence, among others. However, these studies are subject to numerous biases, and their results have often been contradictory and inconclusive. 41 refs., 1 fig.

  7. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

    Science.gov (United States)

    Coyle, B; Coffey, R; Armour, J A; Gausden, E; Hochberg, Z; Grossman, A; Britton, K; Pembrey, M; Reardon, W; Trembath, R

    1996-04-01

    Inherited causes account for about 50% of individuals presenting with childhood (prelingual) hearing loss, of which 70% are due to mutation in numerous single genes which impair auditory function alone (non-syndromic). The remainder are associated with other developmental anomalies termed syndromic deafness. Genes responsible for syndromic forms of hearing loss include the COL4A5 gene in Alport syndrome and the PAX3 and MITF genes in Waardenburg syndrome. Pendred syndrome is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss and diffuse thyroid enlargement (goitre). Pendred syndrome is the most common syndromal form of deafness, yet the primary defect remains unknown. We have established a panel of 12 families with two or more affected individuals and used them to search for the location of the Pendred gene by linkage analysis. We excluded localization to four previously mapped nonsyndromic deafness loci but obtained conclusive evidence for linkage of the Pendred syndrome gene to microsatellite markers on chromosome 7q31 (D7S495 Zmax 7.32, Qmax = 0). This region contains a gene, DFNBL, for autosomal recessive non-syndromic sensorineural hearing loss. Multipoint analysis indicates that DFNB4 and Pendred syndrome co-localize to the same 5.5 centiMorgan (cM) interval flanked by D7S501 and D7S523. These data raise the possibility that Pendred syndrome is either allelic with DFNB4 or may represent an inherited contiguous gene disorder, not clinically manifest in the heterozygote.

  8. Sagittal balance, a useful tool for neurosurgeons?

    Science.gov (United States)

    Villard, Jimmy; Ringel, Florian; Meyer, Bernhard

    2014-01-01

    New instrumentation techniques have made any correction of the spinal architecture possible. Sagittal balance has been described as an important parameter for assessing spinal deformity in the early 1970s, but over the last decade its importance has grown with the published results in terms of overall quality of life and fusion rate. Up until now, most of the studies have concentrated on spinal deformity surgery, but its use in the daily neurosurgery practice remains uncertain and may warrant further studies.

  9. The Role of Proprioception in the Sagittal Setting of Anticipatory Postural Adjustments During Gait Initiation

    OpenAIRE

    Pereira Marcelo P.; Pelicioni Paulo H. Silva; Gobbi Lilian T.B.

    2015-01-01

    Purpose. Previous studies have studied the role of proprioception on the setting of anticipatory postural adjustments (APA) during gait initiation. However, these studies did not investigate the role of proprioception in the sagittal APA setting. We aimed to investigate the role of proprioception manipulation to induce APA sagittal adaptations on gait initiation. Methods. Fourteen healthy adults performed gait initiation without, and with, vibration applied before movement onset, and during m...

  10. Usefulness of the dynamic gadolinium-enhanced magnetic resonance imaging with simultaneous acquisition of coronal and sagittal planes for detection of pituitary microadenomas.

    Science.gov (United States)

    Lee, Han Bee; Kim, Sung Tae; Kim, Hyung-Jin; Kim, Keon Ha; Jeon, Pyoung; Byun, Hong Sik; Choi, Jin Wook

    2012-03-01

    Does dynamic gadolinium-enhanced imaging with simultaneous acquisition of coronal and sagittal planes improve diagnostic accuracy of pituitary microadenomas compared with coronal images alone? Fifty-six patients underwent 3-T sella MRI including dynamic simultaneous acquisition of coronal and sagittal planes after gadolinium injection. According to conspicuity, lesions were divided into four scores (0, no; 1, possible; 2, probable; 3, definite delayed enhancing lesion). Additional information on supplementary sagittal images compared with coronal ones was evaluated with a 4-point score (0, no; 1, possible; 2, probable; 3, definite additional information). Accuracy of tumour detection was calculated. Average scores for lesion detection of a combination of two planes, coronal, and sagittal images were 2.59, 2.32, and 2.18. 6/10 lesions negative on coronal images were detected on sagittal ones. Accuracy of a combination of two planes, of coronal and of sagittal images was 92.86%, 82.14% and 75%. Six patients had probable or definite additional information on supplementary sagittal images compared with coronal ones alone (10.71%). Dynamic MRI with combined coronal and sagittal planes was more accurate for detection of pituitary microadenomas than routinely used coronal images. Simultaneous dynamic enhanced acquisition can make study time fast and costs low. We present a new dynamic MRI technique for evaluating pituitary microadenomas • This technique provides simultaneous acquisition of contrast enhanced coronal and sagittal images. • This technique makes the diagnosis more accurate and reduces the examination time. • Such MR imaging only requires one single bolus of contrast agent.

  11. Symptoms of Autism in Males with Fragile X Syndrome: A Comparison to Nonsyndromic ASD Using Current ADI-R Scores

    Science.gov (United States)

    McDuffie, Andrea; Thurman, Angela John; Hagerman, Randi J.; Abbeduto, Leonard

    2015-01-01

    Symptoms of autism are frequent in males with fragile X syndrome (FXS), but it is not clear whether symptom profiles differ from those of nonsyndromic ASD. Using individual item scores from the Autism Diagnostic Inventory-Revised, we examined which current symptoms of autism differed in boys with FXS relative to same-aged boys diagnosed with…

  12. Body posture in the sagittal plane and scoliotic variables in girls aged 7-18

    Directory of Open Access Journals (Sweden)

    Jacek Wilczyński

    2018-02-01

    Introduction. The aim of the study was to analyze the correlation between the variable posture in the sagittal plane and the scoliotic variables. Material and methods. The study involved 28 girls aged 7-18 years with scoliotic posture and scoliosis. Body posture as well as the spine were examined using Moiré’s spatial photogrammetry and the Exhibeon digital radiography method. Based on the size of the spinal curvature, the following were distinguished: scoliotic postures: 1-9° and scoliosis: ≥10°. Results. There were 21 (75% with scoliotic posture and 7 (25% with scoliosis. The size of the thoracic kyphosis and lumbar lordosis was normal. Conclusions. Between the body postural variables in the sagittal plane and the scoliotic variables, both positive (direct proportional and negative (inversely proportional correlations occurred. In the selection of scoliosis treatment method, the size of the postural variables in the sagittal plane should be taken into account, and each patient’s case should be individually considered.

  13. Protein implicated in nonsyndromic mental retardation regulates protein kinase A (PKA) activity

    KAUST Repository

    Altawashi, Azza

    2012-02-28

    Mutation of the coiled-coil and C2 domain-containing 1A (CC2D1A) gene, which encodes a C2 domain and DM14 domain-containing protein, has been linked to severe autosomal recessive nonsyndromic mental retardation. Using a mouse model that produces a truncated form of CC2D1A that lacks the C2 domain and three of the four DM14 domains, we show that CC2D1A is important for neuronal differentiation and brain development. CC2D1A mutant neurons are hypersensitive to stress and have a reduced capacitytoformdendritesandsynapsesinculture. Atthebiochemical level,CC2D1Atransduces signals to the cyclic adenosine 3?,5?-monophosphate (cAMP)-protein kinase A (PKA) pathway during neuronal cell differentiation. PKA activity is compromised, and the translocation of its catalytic subunit to the nucleus is also defective in CC2D1A mutant cells. Consistently, phosphorylation of the PKA target cAMP-responsive element-binding protein, at serine 133, is nearly abolished in CC2D1A mutant cells. The defects in cAMP/PKA signaling were observed in fibroblast, macrophage, and neuronal primary cells derived from the CC2D1A KO mice. CC2D1A associates with the cAMP-PKA complex following forskolin treatment and accumulates in vesicles or on the plasma membrane in wild-type cells, suggesting that CC2D1A may recruit the PKA complex to the membrane to facilitate signal transduction. Together, our data show that CC2D1A is an important regulator of the cAMP/PKA signaling pathway, which may be the underlying cause for impaired mental function in nonsyndromic mental retardation patients with CC2D1A mutation. 2012 by The American Society for Biochemistry and Molecular Biology, Inc.

  14. Bilateral sagittal split osteotomy versus distraction osteogenesis for mandibular advancements

    NARCIS (Netherlands)

    Baas, E.M.

    2015-01-01

    The aim of this thesis was to compare the treatment modality of distraction osteogenesis (DO) with the gold standard for mandibular advancement surgery. In fact we compare distraction osteogenesis with the standard of care, which is a conventional bilateral sagittal split osteotomy as described by

  15. Proof of Concept Study for the Design, Manufacturing, and Testing of a Patient-Specific Shape Memory Device for Treatment of Unicoronal Craniosynostosis.

    Science.gov (United States)

    Borghi, Alessandro; Rodgers, Will; Schievano, Silvia; Ponniah, Allan; Jeelani, Owase; Dunaway, David

    2018-01-01

    Treatment of unicoronal craniosynostosis is a surgically challenging problem, due to the involvement of coronal suture and cranial base, with complex asymmetries of the calvarium and orbit. Several techniques for correction have been described, including surgical bony remodeling, early strip craniotomy with orthotic helmet remodeling and distraction. Current distraction devices provide unidirectional forces and have had very limited success. Nitinol is a shape memory alloy that can be programmed to the shape of a patient-specific anatomy by means of thermal treatment.In this work, a methodology to produce a nitinol patient-specific distractor is presented: computer tomography images of a 16-month-old patient with unicoronal craniosynostosis were processed to create a 3-dimensional model of his skull and define the ideal shape postsurgery. A mesh was produced from a nitinol sheet, formed to the ideal skull shape and heat treated to be malleable at room temperature. The mesh was afterward deformed to be attached to a rapid prototyped plastic skull, replica of the patient initial anatomy. The mesh/skull construct was placed in hot water to activate the mesh shape memory property: the deformed plastic skull was computed tomography scanned for comparison of its shape with the initial anatomy and with the desired shape, showing that the nitinol mesh had been able to distract the plastic skull to a shape close to the desired one.The shape-memory properties of nitinol allow for the design and production of patient-specific devices able to deliver complex, preprogrammable shape changes.

  16. Correlation and Reliability of Cervical Sagittal Alignment Parameters between Lateral Cervical Radiograph and Lateral Whole-Body EOS Stereoradiograph

    Science.gov (United States)

    Singhatanadgige, Weerasak; Kang, Daniel G.; Luksanapruksa, Panya; Peters, Colleen; Riew, K. Daniel

    2015-01-01

    Study Design  Retrospective analysis. Objective  To evaluate the correlation and reliability of cervical sagittal alignment parameters obtained from lateral cervical radiographs (XRs) compared with lateral whole-body stereoradiographs (SRs). Methods  We evaluated adults with cervical deformity using both lateral XRs and lateral SRs obtained within 1 week of each other between 2010 and 2014. XR and SR images were measured by two independent spine surgeons using the following sagittal alignment parameters: C2–C7 sagittal Cobb angle (SCA), C2–C7 sagittal vertical axis (SVA), C1–C7 translational distance (C1–7), T1 slope (T1-S), neck tilt (NT), and thoracic inlet angle (TIA). Pearson correlation and paired t test were used for statistical analysis, with intra- and interrater reliability analyzed using intraclass correlation coefficient (ICC). Results  A total of 35 patients were included in the study. We found excellent intrarater reliability for all sagittal alignment parameters in both the XR and SR groups with ICC ranging from 0.799 to 0.994 for XR and 0.791 to 0.995 for SR. Interrater reliability was also excellent for all parameters except NT and TIA, which had fair reliability. We also found excellent correlations between XR and SR measurements for most sagittal alignment parameters; SCA, SVA, and C1–C7 had r > 0.90, and only NT had r < 0.70. There was a significant difference between groups, with SR having lower measurements compared with XR for both SVA (0.68 cm lower, p < 0.001) and C1–C7 (1.02 cm lower, p < 0.001). There were no differences between groups for SCA, T1-S, NT, and TIA. Conclusion  Whole-body stereoradiography appears to be a viable alternative for measuring cervical sagittal alignment parameters compared with standard radiography. XR and SR demonstrated excellent correlation for most sagittal alignment parameters except NT. However, SR had significantly lower average SVA and C1–C7 measurements than XR

  17. Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

    Science.gov (United States)

    Winata, S; Arhya, I N; Moeljopawiro, S; Hinnant, J T; Liang, Y; Friedman, T B; Asher, J H

    1995-01-01

    Bengkala is an Indonesian village located on the north shore of Bali that has existed for over 700 years. Currently, 2.2% of the 2185 people in this village have profound congenital deafness. In response to the high incidence of deafness, the people of Bengkala have developed a village specific sign language which is used by many of the hearing and deaf people. Deafness in Bengkala is congenital, sensorineural, non-syndromal, and caused by a fully penetrant autosomal recessive mutation at the DFNB3 locus. The frequency of the DFNB3 mutation is estimated to be 9.4% among hearing people who have a 17.2% chance of being heterozygous for DFNB3. PMID:7616538

  18. Multiple keratocystic odontogenic tumors in a non-syndromic minor patient: Report of an unusual case

    Directory of Open Access Journals (Sweden)

    Shalu Rai

    2013-01-01

    Full Text Available Keratocystic odontogenic tumor (KCOT is developmental odontogenic cysts of epithelial origin known for their potentially aggressive behavior and significant rate of recurrences. Single odontogenic cysts are very well documented in the literature. Multiple (KCOT are principle features of nevoid basal cell carcinoma syndrome (naevoid basal cell carcinoma syndrome; Gorlin-Goltz syndrome. We report an intriguing case of multiple KCOT in a non-syndromic patient simultaneously occurring in maxilla as well as in mandible with brief highlight on molecular data and the treatment modality.

  19. Craniosynostosis in the Middle Pleistocene human Cranium 14 from the Sima de los Huesos, Atapuerca, Spain.

    Science.gov (United States)

    Gracia, Ana; Arsuaga, Juan Luis; Martínez, Ignacio; Lorenzo, Carlos; Carretero, José Miguel; Bermúdez de Castro, José María; Carbonell, Eudald

    2009-04-21

    We report here a previously undescribed human Middle Pleistocene immature specimen, Cranium 14, recovered at the Sima de los Huesos (SH) site (Atapuerca, Spain), that constitutes the oldest evidence in human evolution of a very rare pathology in our own species, lambdoid single suture craniosynostosis (SSC). Both the ecto- and endo-cranial deformities observed in this specimen are severe. All of the evidence points out that this severity implies that the SSC occurred before birth, and that facial asymmetries, as well as motor/cognitive disorders, were likely to be associated with this condition. The analysis of the present etiological data of this specimen lead us to consider that Cranium 14 is a case of isolated SSC, probably of traumatic origin. The existence of this pathological individual among the SH sample represents also a fact to take into account when referring to sociobiological behavior in Middle Pleistocene humans.

  20. Spinal sagittal imbalance in patients with lumbar disc herniation: its spinopelvic characteristics, strength changes of the spinal musculature and natural history after lumbar discectomy.

    Science.gov (United States)

    Liang, Chen; Sun, Jianmin; Cui, Xingang; Jiang, Zhensong; Zhang, Wen; Li, Tao

    2016-07-22

    Spinal sagittal imbalance is a widely acknowledged problem, but there is insufficient knowledge regarding its occurrence. In some patients with lumbar disc herniation (LDH), their symptom is similar to spinal sagittal imbalance. The aim of this study is to illustrate the spinopelvic sagittal characteristics and identity the role of spinal musculature in the mechanism of sagittal imbalance in patients with LDH. Twenty-five adults with spinal sagittal imbalance who initially came to our clinic for treatment of LDH, followed by posterior discectomy were reviewed. The horizontal distance between C7 plumb line-sagittal vertical axis (C7PL-SVA) greater than 5 cm anteriorly with forward bending posture is considered as spinal sagittal imbalance. Radiographic parameters including thoracic kyphotic angle (TK), lumbar lordotic angle (LL), pelvic tilting angle (PT), sacral slope angle (SS) and an electromyography(EMG) index 'the largest recruitment order' were recorded and compared. All patients restored coronal and sagittal balance immediately after lumbar discectomy. The mean C7PL-SVA and trunk shift value decreased from (11.6 ± 6.6 cm, and 2.9 ± 6.1 cm) preoperatively to (-0.5 ± 2.6 cm and 0.2 ± 0.5 cm) postoperatively, while preoperative LL and SS increased from (25.3° ± 14.0° and 25.6° ± 9.5°) to (42.4° ± 10.2° and 30.4° ± 8.7°) after surgery (P imbalance caused by LDH is one type of compensatory sagittal imbalance. Compensatory mechanism of spinal sagittal imbalance mainly includes a loss of lumbar lordosis, an increase of thoracic kyphosis and pelvis tilt. Spinal musculature plays an important role in spinal sagittal imbalance in patients with LDH.

  1. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

    NARCIS (Netherlands)

    Seco, C.Z.; Giese, A.P.; Shafique, S.; Schraders, M.; Oonk, A.M.; Grossheim, M.; Oostrik, J.; Strom, T.; Hegde, R.; WIjk, E. van; Frolenkov, G.I.; Azam, M.; Yntema, H.G.; Free, R.H.; Riazuddin, S.; Verheij, J.B.; Admiraal, R.J.; Qamar, R.; Ahmed, Z.M.; Kremer, H.

    2016-01-01

    Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a novel homozygous missense variant c.196C>T and compound heterozygous variants, c.[97C>T];[196C>T], were found, respectively, in two unrelated families of Dutch origin.

  2. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

    NARCIS (Netherlands)

    Seco, Celia Zazo; Giese, Arnaud P.; Shafique, Sobia; Schraders, Margit; Oonk, Anne M. M.; Grossheim, Mike; Oostrik, Jaap; Strom, Tim; Hegde, Rashmi; van Wijk, Erwin; Frolenkov, Gregory I.; Azam, Maleeha; Yntema, Helger G.; Free, Rolien H.; Riazuddin, Saima; Verheij, Joke B. G. M.; Admiraal, Ronald J.; Qamar, Raheel; Ahmed, Zubair M.; Kremer, Hannie

    Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a novel homozygous missense variant c.196C>T and compound heterozygous variants, c.[97C>T];[196C>T], were found, respectively, in two unrelated families of Dutch origin.

  3. Evo-Devo insights from pathological networks: exploring craniosynostosis as a developmental mechanism for modularity and complexity in the human skull.

    Science.gov (United States)

    Esteve-Altava, Borja; Rasskin-Gutman, Diego

    2015-07-20

    Bone fusion has occurred repeatedly during skull evolution in all tetrapod lineages, leading to a reduction in the number of bones and an increase in their morphological complexity. The ontogeny of the human skull includes also bone fusions as part of its normal developmental process. However, several disruptions might cause premature closure of cranial sutures (craniosynostosis), reducing the number of bones and producing new skull growth patterns that causes shape changes. Here, we compare skull network models of a normal newborn with different craniosynostosis conditions, the normal adult stage, and phylogenetically reconstructed forms of a primitive tetrapod, a synapsid, and a placental mammal. Changes in morphological complexity of newborn-to-synostosed skulls are two to three times less than in newborn-to-adult; and even smaller when we compare them to the increases among the reconstructed ancestors in the evolutionary transitions. In addition, normal, synostosed, and adult human skulls show the same connectivity modules: facial and cranial. Differences arise in the internal structure of these modules. In the adult skull the facial module has an internal hierarchical organization, whereas the cranial module has a regular network organization. However, all newborn forms, normal and synostosed, do not reach such kind of internal organization. We conclude that the subtle changes in skull complexity at the developmental scale can change the modular substructure of the newborn skull to more integrated modules in the adult skull, but is not enough to generate radical changes as it occurs at a macroevolutionary scale. The timing of closure of craniofacial sutures, together with the conserved patterns of morphological modularity, highlights a potential relation between the premature fusion of bones and the evolution of the shape of the skull in hominids.

  4. ?Lumbar Degenerative Kyphosis? Is Not Byword for Degenerative Sagittal Imbalance: Time to Replace a Misconception

    OpenAIRE

    Lee, Chang-Hyun; Chung, Chun Kee; Jang, Jee-Soo; Kim, Sung-Min; Chin, Dong-Kyu; Lee, Jung-Kil

    2017-01-01

    Lumbar degenerative kyphosis (LDK) is a subgroup of the flat-back syndrome and is most commonly caused by unique life styles, such as a prolonged crouched posture during agricultural work and performing activities of daily living on the floor. Unfortunately, LDK has been used as a byword for degenerative sagittal imbalance, and this sometimes causes confusion. The aim of this review was to evaluate the exact territory of LDK, and to introduce another appropriate term for degenerative sagittal...

  5. CORRELATION BETWEEN OBESITY, SAGITTAL BALANCE AND CLINICAL OUTCOME IN SPINAL FUSION

    Directory of Open Access Journals (Sweden)

    Marcel Machado da Motta

    2015-09-01

    Full Text Available Objective:To correlate obesity with radiographic parameters of spinal and spinopelvic balance in patients undergoing spinal arthrodesis, and to correlate obesity with clinical outcome of these patients.Methods:Observational retrospective study including patients who underwent spinal arthrodesis, with minimum follow-up period of three months. We measured waist circumference, as well as height and weight to calculate body mass index (BMI and obtained radiographs of the total column. The clinical parameters studied were pain by visual analog scale (VAS and the Oswestry questionnaire (ODI. Obesity correlated with radiographic parameters of the sagittal and spinopelvic balance and postoperative clinical parameters.Results:32 patients were analyzed. The higher the BMI, the greater the value of VAS found, but without statistical significance (p=0.83. There was also no correlation between BMI and the ODI questionnaire. Analyzing the abdominal circumference, there was no correlation between the VAS and ODI. There was no correlation between BMI or waist circumference and the radiographic parameters of global spinopelvic sagittal alignment. Regarding the postoperative results, there was no correlation between the mean BMI and waist circumference and the postoperative results for ODI and VAS (p=0.75 and p=0.7, respectively.Conclusions:The clinical outcomes of patients who undergone spinal fusion were not affected by the BMI and waist circumference. Also, there was no correlation between radiographic parameters of spinal and spinopelvic sagittal balance with obesity in patients previously treated with arthrodesis of the spine.

  6. Differences of Sagittal Lumbosacral Parameters between Patients with Lumbar Spondylolysis and Normal Adults.

    Science.gov (United States)

    Yin, Jin; Peng, Bao-Gan; Li, Yong-Chao; Zhang, Nai-Yang; Yang, Liang; Li, Duan-Ming

    2016-05-20

    Recent studies have suggested an association between elevated pelvic incidence (PI) and the development of lumbar spondylolysis. However, there is still lack of investigation for Han Chinese people concerning the normal range of spinopelvic parameters and relationship between abnormal sagittal parameters and lumbar diseases. The objective of the study was to investigate sagittal lumbosacral parameters of adult lumbar spondylolysis patients in Han Chinese population. A total of 52 adult patients with symptomatic lumbar spondylolysis treated in the General Hospital of Armed Police Force (Beijing, China) were identified as the spondylolysis group. All the 52 patients were divided into two subgroups, Subgroup A: 36 patients with simple lumbar spondylolysis, and Subgroup B: 16 patients with lumbar spondylolysis accompanying with mild lumbar spondylolisthesis (slip percentage spondylolysis group and the control group with independent-sample t- test. There were no statistically significant differences of all seven sagittal lumbosacral parameters between Subgroup A and Subgroup B. PI, PT, SS, and LL were higher (P spondylolysis group than those in the control group, but STA was lower (P spondylolysis group. Current study results suggest that increased PI and decreased STA may play important roles in the pathology of lumbar spondylolysis in Han Chinese population.

  7. Sagittal x-ray beam deviation at asymmetric inclined diffractors

    Czech Academy of Sciences Publication Activity Database

    Korytár, D.; Hrdý, Jaromír; Artemiev, Nikolai; Ferrari, C.; Freund, A.

    2001-01-01

    Roč. 8, - (2001), s. 1136-1139 ISSN 0909-0495 R&D Projects: GA MŠk OK 305; GA MPO PZ-CH/22 Institutional research plan: CEZ:AV0Z1010914 Keywords : x-ray optics * Si(111) W/grooved crystals * inclined diffraction * out-of-diffraction-plane beams * sagittal focusing Subject RIV: BH - Optics, Masers, Lasers Impact factor: 1.519, year: 2001

  8. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

    Science.gov (United States)

    Schultz, Julie M; Bhatti, Rashid; Madeo, Anne C; Turriff, Amy; Muskett, Julie A; Zalewski, Christopher K; King, Kelly A; Ahmed, Zubair M; Riazuddin, Saima; Ahmad, Nazir; Hussain, Zawar; Qasim, Muhammad; Kahn, Shaheen N; Meltzer, Meira R; Liu, Xue Z; Munisamy, Murali; Ghosh, Manju; Rehm, Heidi L; Tsilou, Ekaterini T; Griffith, Andrew J; Zein, Wadih M; Brewer, Carmen C; Riazuddin, Sheikh; Friedman, Thomas B

    2011-11-01

    Recessive mutant alleles of MYO7A, USH1C, CDH23, and PCDH15 cause non-syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness, vestibular areflexia, and vision loss due to retinitis pigmentosa. For CDH23, encoding cadherin 23, non-syndromic DFNB12 deafness is associated primarily with missense mutations hypothesised to have residual function. In contrast, homozygous nonsense, frame shift, splice site, and some missense mutations of CDH23, all of which are presumably functional null alleles, cause USH1D. The phenotype of a CDH23 compound heterozygote for a DFNB12 allele in trans configuration to an USH1D allele is not known and cannot be predicted from current understanding of cadherin 23 function in the retina and vestibular labyrinth. To address this issue, this study sought CDH23 compound heterozygotes by sequencing this gene in USH1 probands, and families segregating USH1D or DFNB12. Five non-syndromic deaf individuals were identified with normal retinal and vestibular phenotypes that segregate compound heterozygous mutations of CDH23, where one mutation is a known or predicted USH1 allele. One DFNB12 allele in trans configuration to an USH1D allele of CDH23 preserves vision and balance in deaf individuals, indicating that the DFNB12 allele is phenotypically dominant to an USH1D allele. This finding has implications for genetic counselling and the development of therapies for retinitis pigmentosa in Usher syndrome. ACCESSION NUMBERS: The cDNA and protein Genbank accession numbers for CDH23 and cadherin 23 used in this paper are AY010111.2 and AAG27034.2, respectively.

  9. Sagittal-lung CT measurements in the evaluation of asthma-COPD overlap syndrome: a distinctive phenotype from COPD alone.

    Science.gov (United States)

    Qu, Yanjuan; Cao, Yiyuan; Liao, Meiyan; Lu, Zhiyan

    2017-07-01

    This study aimed at investigating the capability of sagittal-lung computed tomography (CT) measurements in differentiating chronic obstructive pulmonary disease (COPD) and asthma-COPD overlap syndrome (ACOS). Clinical and high-resolution CT of 229 patients including 123 pure COPD patients and 106 ACOS patients were included. Sagittal-lung CT measurements in terms of bilateral lung height (LH), anterior-posterior lung diameter (APLD), diaphragm height (DH), and anterior sterno-diaphragmatic angle (ASDA), as well as inter-pulmonary septum length (IPSL) on axial images were measured both before and after bronchodilator (BD) administration. Comparisons of clinical characteristics and CT measurements between patient groups were performed. All pre-BD quantitative sagittal features measuring diaphragm flattening and hyperinflation were not significantly different between patients with COPD and patients with ACOS (P values all >0.05). Following BD administration, the ACOS patients exhibited lower left LH, bilateral APLD, and bilateral ASDA, but higher right DH, compared to pure COPD patients (P values all <0.05). Right LH, left DH and IPSL were not significantly different between patient groups. Besides, variations of all sagittal-lung CT measurements were significantly larger in patients with ACOS than in patients with pure COPD (P values all <0.001) and showed high performance in differentiating these two kinds of patient, with diagnostic sensitivities ranging from 76.4 to 97.2%, specificities ranging from 86.2 to 100.0%, and accuracies ranging from 80.9 to 90.7%. Sagittal-lung CT measurements allow for differentiating patients with ACOS from those with pure COPD. The ACOS patients had larger post-BD variations of sagittal-lung CT measurements than patients with pure COPD.

  10. Variations of cervical lordosis and head alignment after pedicle subtraction osteotomy surgery for sagittal imbalance.

    Science.gov (United States)

    Cecchinato, R; Langella, F; Bassani, R; Sansone, V; Lamartina, C; Berjano, P

    2014-10-01

    The variations of the cervical lordosis after correction of sagittal imbalance have been poorly studied. The aim of our study is to verify whether the cervical lordosis changes after surgery for sagittal imbalance. Thirty-nine patients were included in the study. Cervical, thoracic and lumbar spine, pelvic and lower-limb sagittal parameters were recorded. The cranial alignment was measured by the newly described Cranial Slope. The global cervical kyphosis (preop -43°, postop -31.5°) and the upper (preop -24.1°, postop -20.2°) and lower cervical kyphosis (preop -18.1°, postop -9.2°) were significantly reduced after surgical realignment of the trunk. A positive linear correlation was observed between the changes in T1 slope and the lower cervical lordosis, and between T1 slope and the global cervical alignment. The cervical lordosis is reduced by surgical correction of malalignment of the trunk, suggesting an adaptive role to maintain the head's neutral position.

  11. Does Shoe Collar Height Influence Ankle Joint Kinematics and Kinetics in Sagittal Plane Maneuvers?

    Directory of Open Access Journals (Sweden)

    Yang Yang, Ying Fang, Xini Zhang, Junliang He, Weijie Fu

    2017-12-01

    Full Text Available The Objective of the study is to investigate the effects of basketball shoes with different collar heights on ankle kinematics and kinetics and athletic performance in different sagittal plane maneuvers. Twelve participants who wore high-top and low-top basketball shoes (hereafter, HS and LS, respectively performed a weight-bearing dorsiflexion (WB-DF maneuver, drop jumps (DJs, and lay-up jumps (LJs. Their sagittal plane kinematics and ground reaction forces were recorded using the Vicon motion capture system and Kistler force plates simultaneously. Moreover, ankle dorsiflexion and plantarflexion angles, moment, power, stiffness, and jump height were calculated. In the WB-DF test, the peak ankle dorsiflexion angle (p = 0.041 was significantly smaller in HS than in LS. Additionally, the peak ankle plantarflexion moment (p = 0.028 and power (p = 0.022 were significantly lower in HS than in LS during LJs but not during DJs. In both jumping maneuvers, no significant differences were found in the jump height or ankle kinematics between the two shoe types. According to the WB-DF test, increasing shoe collar height can effectively reduce the ankle range of motion in the sagittal plane. Although the HS did not restrict the flexion–extension performance of the ankle joint during two jumping maneuvers, an increased shoe collar height can reduce peak ankle plantarflexion moment and peak power during the push-off phase in LJs. Therefore, a higher shoe collar height should be used to circumvent effects on the partial kinetics of the ankle joint in the sagittal plane.

  12. Does Shoe Collar Height Influence Ankle Joint Kinematics and Kinetics in Sagittal Plane Maneuvers?

    Science.gov (United States)

    Yang, Yang; Fang, Ying; Zhang, Xini; He, Junliang; Fu, Weijie

    2017-12-01

    The Objective of the study is to investigate the effects of basketball shoes with different collar heights on ankle kinematics and kinetics and athletic performance in different sagittal plane maneuvers. Twelve participants who wore high-top and low-top basketball shoes (hereafter, HS and LS, respectively) performed a weight-bearing dorsiflexion (WB-DF) maneuver, drop jumps (DJs), and lay-up jumps (LJs). Their sagittal plane kinematics and ground reaction forces were recorded using the Vicon motion capture system and Kistler force plates simultaneously. Moreover, ankle dorsiflexion and plantarflexion angles, moment, power, stiffness, and jump height were calculated. In the WB-DF test, the peak ankle dorsiflexion angle (p = 0.041) was significantly smaller in HS than in LS. Additionally, the peak ankle plantarflexion moment (p = 0.028) and power (p = 0.022) were significantly lower in HS than in LS during LJs but not during DJs. In both jumping maneuvers, no significant differences were found in the jump height or ankle kinematics between the two shoe types. According to the WB-DF test, increasing shoe collar height can effectively reduce the ankle range of motion in the sagittal plane. Although the HS did not restrict the flexion-extension performance of the ankle joint during two jumping maneuvers, an increased shoe collar height can reduce peak ankle plantarflexion moment and peak power during the push-off phase in LJs. Therefore, a higher shoe collar height should be used to circumvent effects on the partial kinetics of the ankle joint in the sagittal plane.

  13. A Comparison of Plain Radiography with Computer Tomography in Determining Coronal and Sagittal Alignments following Total Knee Arthroplasty

    Directory of Open Access Journals (Sweden)

    Solayar GN

    2017-07-01

    Full Text Available INTRODUCTION: Optimal coronal and sagittal component positioning is important in achieving a successful outcome following total knee arthroplasty (TKA. Modalities to determine post-operative alignment include plain radiography and computer tomography (CT imaging. This study aims to determine the accuracy and reliability of plain radiographs in measuring coronal and sagittal alignment following TKA. MATERIALS AND METHODS: A prospective, consecutive study of 58 patients undergoing TKA was performed comparing alignment data from plain radiographs and CT imaging. Hip- knee-angle (HKA, sagittal femoral angle (SFA and sagittal tibial angle (STA measurements were taken by two observers from plain radiographs and compared with CT alignment. Intra- and inter-observer correlation was calculated for each measurement. RESULTS: Intra-observer correlation was excellent for HKA (r>0.89 with a mean difference of 0.95 and STA (r>0.8 compared to SFA (r=0.5. When comparing modalities (radiographs vs CT, HKA estimations for both observers showed the least maximum and mean differences while SFA observations were the least accurate. CONCLUSION: Radiographic estimation of HKA showed excellent intra- and inter-observer correlation and corresponds well with CT imaging. However, radiographic estimation of sagittal plane alignment was less reliably measured and correlated less with CT imaging. Plain radiography was found to be inferior to CT for estimation of biplanar prosthetic alignment following TKA.

  14. Localization of A Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB38) to 6q26–q27 in a Consanguineous Kindred from Pakistan

    Science.gov (United States)

    Ansar, Muhammad; Ramzan, Mohammad; Pham, Thanh L.; Yan, Kai; Jamal, Syed Muhammad; Haque, Sayedul; Ahmad, Wasim; Leal, Suzanne M.

    2010-01-01

    For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26–q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26–q27 (Multipoint lod score 3.6). The genetic region for DFNB38 spans 10.1 cM according to the Marshfield genetic map and is bounded by markers D6S980 and D6S1719. This genetic region corresponds to 3.4 MB on the sequence-based physical map. PMID:12890929

  15. Comparison of prostate contours between conventional stepping transverse imaging and Twister-based sagittal imaging in permanent interstitial prostate brachytherapy.

    Science.gov (United States)

    Kawakami, Shogo; Ishiyama, Hiromichi; Satoh, Takefumi; Tsumura, Hideyasu; Sekiguchi, Akane; Takenaka, Kouji; Tabata, Ken-Ichi; Iwamura, Masatsugu; Hayakawa, Kazushige

    2017-08-01

    To compare prostate contours on conventional stepping transverse image acquisitions with those on twister-based sagittal image acquisitions. Twenty prostate cancer patients who were planned to have permanent interstitial prostate brachytherapy were prospectively accrued. A transrectal ultrasonography probe was inserted, with the patient in lithotomy position. Transverse images were obtained with stepping movement of the transverse transducer. In the same patient, sagittal images were also obtained through rotation of the sagittal transducer using the "Twister" mode. The differences of prostate size among the two types of image acquisitions were compared. The relationships among the difference of the two types of image acquisitions, dose-volume histogram (DVH) parameters on the post-implant computed tomography (CT) analysis, as well as other factors were analyzed. The sagittal image acquisitions showed a larger prostate size compared to the transverse image acquisitions especially in the anterior-posterior (AP) direction ( p transverse image acquisitions was correlated to DVH parameters such as D 90 ( R = 0.518, p = 0.019), and V 100 ( R = 0.598, p = 0.005). There were small but significant differences in the prostate contours between the transverse and the sagittal planning image acquisitions. Furthermore, our study suggested that the differences between the two types of image acquisitions might correlated to dosimetric results on CT analysis.

  16. Sagittal synostosis: II. Cranial morphology and growth after the modified pi-plasty

    DEFF Research Database (Denmark)

    Guimaraes-Ferreira, J.; Gewalli, F.; David, L.

    2006-01-01

    The aim of this study was to characterise the postoperative cranial growth and morphology after a modified pi-plasty for sagittal synostosis. The shape of the skull of 82 patients with isolated premature synostosis of the sagittal suture ( SS group) operated on with a modified pi-plasty was studied...... developed by Kreiborg, which included the digitisation of 89 landmarks of the calvaria, cranial base, and orbit ( 43 in the lateral and 46 in the frontal projections), the production of mean shape plots for each group, and the intergroup comparison of a series of 78 variables ( linear distance between...... selected landmarks, and angles defined by groups of three landmarks). Paired and unpaired t tests were used to assess the differences between the variables studied. These were accepted as significant for values of p...

  17. New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss

    International Nuclear Information System (INIS)

    Mkaouar-Rebai, Emna; Tlili, Abdelaziz; Masmoudi, Saber; Charfeddine, Ilhem; Fakhfakh, Faiza

    2008-01-01

    The 12S rRNA gene was shown to be a hot spot for aminoglycoside-induced and non-syndromic hearing loss since several deafness-associated mtDNA mutations were identified in this gene. Among them, we distinguished the A1555G, the C1494T and the T1095C mutations and C-insertion or deletion at position 961. One hundred Tunisian patients with non-syndromic hearing loss and 100 hearing individuals were analysed in this study. A PCR-RFLP analysis with HaeIII restriction enzyme showed the presence of the A1555G mutation in the 12S rRNA gene in only one out of the 100 patients. In addition, PCR-RFLP and radioactive PCR revealed the presence of a new HaeIII polymorphic restriction site in the same gene of 12S rRNA site in 4 patients with non-syndromic hearing loss. UVIDOC-008-XD analyses showed the presence of this new polymorphic restriction site with a variable heteroplasmic rates at position +1517 of the human mitochondrial genome. On the other hand, direct sequencing of the entire mitochondrial 12S rRNA gene in the 100 patients and in 100 hearing individuals revealed the presence of the A750G and A1438G polymorphisms and the absence of the C1494T, T1095C and 961insC mutations in all the tested individuals. Sequencing of the whole mitochondrial genome in the 4 patients showing the new HaeIII polymorphic restriction site revealed only the presence of the A8860G transition in the MT-ATP6 gene and the A4769G polymorphism in the ND2 gene

  18. The association between whole body sagittal balance and risk of falls among elderly patients seeking treatment for back pain.

    Science.gov (United States)

    Kim, J; Hwang, J Y; Oh, J K; Park, M S; Kim, S W; Chang, H; Kim, T-H

    2017-05-01

    The objective of this study was to assess the association between whole body sagittal balance and risk of falls in elderly patients who have sought treatment for back pain. Balanced spinal sagittal alignment is known to be important for the prevention of falls. However, spinal sagittal imbalance can be markedly compensated by the lower extremities, and whole body sagittal balance including the lower extremities should be assessed to evaluate actual imbalances related to falls. Patients over 70 years old who visited an outpatient clinic for back pain treatment and underwent a standing whole-body radiograph were enrolled. Falls were prospectively assessed for 12 months using a monthly fall diary, and patients were divided into fallers and non-fallers according to the history of falls. Radiological parameters from whole-body radiographs and clinical data were compared between the two groups. A total of 144 patients (120 female patients and 24 male patients) completed a 12-month follow-up for assessing falls. A total of 31 patients (21.5%) reported at least one fall within the 12-month follow-up. In univariate logistic regression analysis, the risk of falls was significantly increased in older patients and those with more medical comorbidities, decreased lumbar lordosis, increased sagittal vertical axis, and increased horizontal distance between the C7 plumb line and the centre of the ankle (C7A). Increased C7A was significantly associated with increased risk of falls even after multivariate adjustment. Whole body sagittal balance, measured by the horizontal distance between the C7 plumb line and the centre of the ankle, was significantly associated with risk of falls among elderly patients with back pain. Cite this article : J. Kim, J. Y. Hwang, J. K. Oh, M. S. Park, S. W. Kim, H. Chang, T-H. Kim. The association between whole body sagittal balance and risk of falls among elderly patients seeking treatment for back pain. Bone Joint Res 2017;6:-344. DOI: 10

  19. Fracture of fusion mass after hardware removal in patients with high sagittal imbalance.

    Science.gov (United States)

    Sedney, Cara L; Daffner, Scott D; Stefanko, Jared J; Abdelfattah, Hesham; Emery, Sanford E; France, John C

    2016-04-01

    As spinal fusions become more common and more complex, so do the sequelae of these procedures, some of which remain poorly understood. The authors report on a series of patients who underwent removal of hardware after CT-proven solid fusion, confirmed by intraoperative findings. These patients later developed a spontaneous fracture of the fusion mass that was not associated with trauma. A series of such patients has not previously been described in the literature. An unfunded, retrospective review of the surgical logs of 3 fellowship-trained spine surgeons yielded 7 patients who suffered a fracture of a fusion mass after hardware removal. Adult patients from the West Virginia University Department of Orthopaedics who underwent hardware removal in the setting of adjacent-segment disease (ASD), and subsequently experienced fracture of the fusion mass through the uninstrumented segment, were studied. The medical records and radiological studies of these patients were examined for patient demographics and comorbidities, initial indication for surgery, total number of surgeries, timeline of fracture occurrence, risk factors for fracture, as well as sagittal imbalance. All 7 patients underwent hardware removal in conjunction with an extension of fusion for ASD. All had CT-proven solid fusion of their previously fused segments, which was confirmed intraoperatively. All patients had previously undergone multiple operations for a variety of indications, 4 patients were smokers, and 3 patients had osteoporosis. Spontaneous fracture of the fusion mass occurred in all patients and was not due to trauma. These fractures occurred 4 months to 4 years after hardware removal. All patients had significant sagittal imbalance of 13-15 cm. The fracture level was L-5 in 6 of the 7 patients, which was the first uninstrumented level caudal to the newly placed hardware in all 6 of these patients. Six patients underwent surgery due to this fracture. The authors present a case series of 7

  20. Bulky scalp metastasis and superior sagittal sinus thrombosis from a cervical adenocarcinoma: an unusual case

    International Nuclear Information System (INIS)

    Abhishek, A.; Ouseph, M. M.; Sharma, M.; Sharma, P.; Kamal, V.

    2008-01-01

    Distant cutaneous metastases from cervical malignancies are uncommon, with scalp metastases being exceptional events. We present the case of a 53-year-old postmenopausal lady with adenocarcinoma of the uterine cervix that metastasized to the scalp with superior sagittal sinus thrombosis 8 months after diagnosis. In contrast to the seven prior cases of scalp metastases of cervical squamous cell carcinoma reported in published reports, ours is the first documentation of such an occurrence in cervical adenocarcinoma. Superior sagittal sinus thrombosis has not been reported with this tumour in the past.

  1. Elevated prothrombin time on routine preoperative laboratory results in a healthy infant undergoing craniosynostosis repair: Diagnosis and perioperative management of congenital factor VII deficiency.

    Science.gov (United States)

    Jones, Kareen L; Greenberg, Robert S; Ahn, Edward S; Kudchadkar, Sapna R

    2016-01-01

    Congenital factor VII deficiency is a rare bleeding disorder with high phenotypic variability. It is critical that children with congenital Factor VII deficiency be identified early when high-risk surgery is planned. Cranial vault surgery is common for children with craniosynostosis, and these surgeries are associated with significant morbidity mostly secondary to the risk of massive blood loss. A two-month old infant who presented for elective craniosynostosis repair was noted to have an elevated prothrombin time (PT) with a normal activated partial thromboplastin time (aPTT) on preoperative labs. The infant had no clinical history or reported family history of bleeding disorders, therefore a multidisciplinary decision was made to repeat the labs under general anesthesia and await the results prior to incision. The results confirmed the abnormal PT and the case was canceled. Hematologic workup during admission revealed factor VII deficiency. The patient underwent an uneventful endoscopic strip craniectomy with perioperative administration of recombinant Factor VIIa. Important considerations for perioperative laboratory evaluation and management in children with factor VII deficiency are discussed. Anesthetic and surgical management of the child with factor VII deficiency necessitates meticulous planning to prevent life threatening bleeding during the perioperative period. A thorough history and physical examination with a high clinical suspicion are vital in preventing hemorrhage during surgeries in children with coagulopathies. Abnormal preoperative lab values should always be confirmed and addressed before proceeding with high-risk surgery. A multidisciplinary discussion is essential to optimize the risk-benefit ratio during the perioperative period. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

  2. Comparative Study of Skeletal Stability between Postoperative Skeletal Intermaxillary Fixation and No Skeletal Fixation after Bilateral Sagittal Split Ramus Osteotomy

    DEFF Research Database (Denmark)

    Hartlev, Jens; Godtfredsen, Erik; Andersen, Niels Trolle

    2014-01-01

    OBJECTIVES: The purpose of the present study was to evaluate skeletal stability after mandibular advancement with bilateral sagittal split osteotomy. MATERIAL AND METHODS: Twenty-six patients underwent single-jaw bilateral sagittal split osteotomy (BSSO) to correct skeletal Class II malocclusion....

  3. Parental perception of treatment and medical care in children with craniosynostosis.

    Science.gov (United States)

    Kluba, S; Rohleder, S; Wolff, M; Haas-Lude, K; Schuhmann, M U; Will, B E; Reinert, S; Krimmel, M

    2016-11-01

    Surgery for craniosynostosis implies a relevant strain on the child and the parents. The development of the child's self-perception and self-confidence is mainly influenced by parental attitudes. The outcomes of 46 patients were analysed, taking into consideration parental perceptions. Parents were asked to indicate their satisfaction with the medical care and treatment provided using a questionnaire. Aesthetics were evaluated by the parents and doctors using a score (1=perfect, 5=deficient). Major surgical complications (2.2%) were reported only in the case of complex synostosis. Reoperation was necessary in 2.9% of isolated cases and 45.5% of complex cases. In general, parents were satisfied with the medical (1.3) and nursing (1.6) inpatient care. Aesthetic assessments differed between parents and surgeons, although not significantly (P=0.27). The surgeons perceived the results to be better than the parents, especially for complex synostosis (1.3 vs. 2.7). Alopecia and persistent asymmetry led to a worse perception of aesthetics. Persistent bone defects did not influence parental satisfaction. All participating parents would opt for surgery again. Surgery led to satisfactory results with a low risk of severe complications. Nevertheless, the outcomes and limits of the surgical procedure must be communicated effectively to parents, especially in complex cases, to avoid a mismatch in expectations. It would be desirable to implement structured interviews with parents during regular treatment management. Copyright © 2016 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  4. Dorsal free graft urethroplasty for urethral stricture by ventral sagittal urethrotomy approach.

    Science.gov (United States)

    Asopa, H S; Garg, M; Singhal, G G; Singh, L; Asopa, J; Nischal, A

    2001-11-01

    To explore the feasibility of applying a dorsal free graft to treat urethral stricture by the ventral sagittal urethrotomy approach without mobilizing the urethra. Twelve patients with long or multiple strictures of the anterior urethra were treated by a dorsal free full-thickness preputial or buccal mucosa graft. The urethra was not separated from the corporal bodies and was opened in the midline over the stricture. The floor of the urethra was incised, and an elliptical raw area was created over the tunica on which a free full-thickness graft of preputial or buccal mucosa was secured. The urethra was retubularized in one stage. After a follow-up of 8 to 40 months, one recurrence developed and required dilation. The ventral sagittal urethrotomy approach for dorsal free graft urethroplasty is not only feasible and successful, but is easy to perform.

  5. WAVELET ANALYSIS AND NEURAL NETWORK CLASSIFIERS TO DETECT MID-SAGITTAL SECTIONS FOR NUCHAL TRANSLUCENCY MEASUREMENT

    Directory of Open Access Journals (Sweden)

    Giuseppa Sciortino

    2016-04-01

    Full Text Available We propose a methodology to support the physician in the automatic identification of mid-sagittal sections of the fetus in ultrasound videos acquired during the first trimester of pregnancy. A good mid-sagittal section is a key requirement to make the correct measurement of nuchal translucency which is one of the main marker for screening of chromosomal defects such as trisomy 13, 18 and 21. NT measurement is beyond the scope of this article. The proposed methodology is mainly based on wavelet analysis and neural network classifiers to detect the jawbone and on radial symmetry analysis to detect the choroid plexus. Those steps allow to identify the frames which represent correct mid-sagittal sections to be processed. The performance of the proposed methodology was analyzed on 3000 random frames uniformly extracted from 10 real clinical ultrasound videos. With respect to a ground-truth provided by an expert physician, we obtained a true positive, a true negative and a balanced accuracy equal to 87.26%, 94.98% and 91.12% respectively.

  6. CORRELATION BETWEEN CERVICAL SAGITTAL ALIGNMENT AND FUNCTIONAL CAPACITY IN CERVICAL SPONDYLOSIS

    Directory of Open Access Journals (Sweden)

    Marcel Machado da Motta

    Full Text Available ABSTRACT Objective: To correlate the radiographic parameters of sagittal cervical alignment with quality of life and functional capacity in patients with cervical spondylosis under conservative treatment. Methods: This is an observational and prospective study in patients with cervical spondylosis under conservative treatment and without indication for surgery. The 52 patients included were divided into three groups: axial pain, radiculopathy, and cervical myelopathy. The radiographic parameters considered were cervical lordosis (CL, cervical sagittal vertical axis (CSVA, T1 slope (TS and the discrepancy between TS and CL (TS-CL. Quality of life and functional capacity were evaluated by the Neck Disability Index (NDI questionnaire. Pain was assessed by the Visual Analogue Scale (VAS. The correlation between the radiographic parameters and the clinical scores was evaluated by the Pearson correlations coefficient. Results: There was no difference in cervical radiographic parameters between the three groups. In the total of the sample, the mean value of the CSVA was 17.8o (±8.3o, CL, 22.4° (± 8.8°; TS, 29.3° (±6.6°, and TS-CL, 7.0° (±7.4°. Significant inverse correlation (r= -0.3, p=0.039 was observed between NDI and CL, but there was no significant correlation between CL and VAS. CSVA (p=0.541, TS (p=0.287 and TS-CL (p=0.287 had no significantly correlated with NDI or VAS. Conclusion: Considering patients with cervical spondylosis not candidates for surgery, the only sagittal parameter that correlated with functional capacity was LC. In these patients, the correlation between cervical alignment and quality of life needs to be better characterized.

  7. [Evaluation of the clinical results of non-surgical treatment for pediatric sagittal fracture of mandibular condyle].

    Science.gov (United States)

    Liu, Chang-kui; Tan, Xin-ying; Xu, Juan; Liu, Hua-wei; Liu, San-xia; Hu, Min

    2013-11-01

    To investigate the clinical results of occlusal splint in the treatment of sagittal fracture of mandibular condyle (SFMC) in children. Thirty-nine patients (48 condyles)aged 3-8 years with sagittal fracture of mandibular condyle were included in this study. All the patients were treated by occlusal splint.Slight open occlusion was maintained by occlusal splint for 3-6 months. Clinical and radiological examination was performed six mouths and every year after treatment. Good mandibular function was observed in 39 patients. Maximal mouth opening over 35 mm was achieved at 6 months. But 11 of the 39 patients presented with deviation on mouth opening at 6 months. The radiology showed an complete remodeling in 32 condyles (28 patients) and partial remodeling in 16 condyles (11 patients). Poor remodelling was not observed in any patients. Good clinical results can be obtained by using occlusal splint in the treatment of pediatric sagittal fracture of mandibular condyle.

  8. A rare complication in a child undergoing chemotherapy for acute lymphoblastic leukemia: Superior sagittal sinus thrombosis

    Directory of Open Access Journals (Sweden)

    Ting-Yao Wang

    2011-04-01

    Full Text Available We report the case of a 4-year-old boy with acute lymphoblastic leukemia in high-risk group who suffered from generalized tonic-colonic seizure evolving into status epilepticus, and subsequent left hemiparesis during his first reinduction chemotherapy, consisting of dexamethasone, vincristine, l-asparaginase, and epirubicin. Superior sagittal sinus and cerebral venous thrombosis, predominantly in right side, were proved by brain magnetic resonance imaging. After aggressive treatment with low-molecular weight heparin (LMWH, left hemiparesis improved in 1 week. And he was fully ambulatory 3 weeks later. The second cycle of reinduction chemotherapy was conducted smoothly with the concomitant use of LMWH. This case illustrates the strong correlation of the rare thrombotic complication, superior sagittal sinus thrombosis, and hypercoagulable status secondary to combination use of l-asparaginase and corticosteroid. Early and vigilant recognition of superior sagittal sinus thrombosis and prompt anticoagulation with LMWH may prevent further neurological damage.

  9. A comparison of economy and sagittal plane trunk movements among back-, back/front- and head-loading.

    Science.gov (United States)

    Hudson, Sean; Cooke, Carlton; Davies, Simeon; West, Sacha; Gamieldien, Raeeq; Low, Chris; Lloyd, Ray

    2018-05-14

    It has been suggested that freedom of movement in the trunk could influence load carriage economy. This study aimed to compare the economy and sagittal plane trunk movements associated with three load carriage methods that constrain posture differently. Eighteen females walked at 3 km.h -1 with loads of 0, 3, 6, 9, 12, 15 and 20 kg carried on the back, back/front and head. Load carriage economy was assessed using the Extra Load Index (ELI). Change in sagittal plane trunk forward lean and trunk angle excursion from unloaded to loaded walking were assessed. Results show no difference in economy between methods (p = 0.483), despite differences in the change in trunk forward lean (p = 0.001) and trunk angle excursion (p = 0.021) from unloaded to loaded walking. We conclude that economy is not different among the three methods of load carriage, despite significant differences in sagittal plane trunk movements.

  10. Phenotypic integration of neurocranium and brain.

    Science.gov (United States)

    Richtsmeier, Joan T; Aldridge, Kristina; DeLeon, Valerie B; Panchal, Jayesh; Kane, Alex A; Marsh, Jeffrey L; Yan, Peng; Cole, Theodore M

    2006-07-15

    Evolutionary history of Mammalia provides strong evidence that the morphology of skull and brain change jointly in evolution. Formation and development of brain and skull co-occur and are dependent upon a series of morphogenetic and patterning processes driven by genes and their regulatory programs. Our current concept of skull and brain as separate tissues results in distinct analyses of these tissues by most researchers. In this study, we use 3D computed tomography and magnetic resonance images of pediatric individuals diagnosed with premature closure of cranial sutures (craniosynostosis) to investigate phenotypic relationships between the brain and skull. It has been demonstrated previously that the skull and brain acquire characteristic dysmorphologies in isolated craniosynostosis, but relatively little is known of the developmental interactions that produce these anomalies. Our comparative analysis of phenotypic integration of brain and skull in premature closure of the sagittal and the right coronal sutures demonstrates that brain and skull are strongly integrated and that the significant differences in patterns of association do not occur local to the prematurely closed suture. We posit that the current focus on the suture as the basis for this condition may identify a proximate, but not the ultimate cause for these conditions. Given that premature suture closure reduces the number of cranial bones, and that a persistent loss of skull bones is demonstrated over the approximately 150 million years of synapsid evolution, craniosynostosis may serve as an informative model for evolution of the mammalian skull. Copyright 2006 Wiley-Liss, Inc.

  11. Risk factors affecting somatosensory function after sagittal split osteotomy

    DEFF Research Database (Denmark)

    Thygesen, Torben Henrik; Jensen, Allan Bardow; Helleberg, M

    2008-01-01

    Purpose The aim of this study was to evaluate potential individual and intraoperative risk factors associated with bilateral sagittal split osteotomy (BSSO) and to correlate the findings with postoperative changes in somatosensory function. Patients and Methods A total of 18 men and 29 women (mean...... and free dissection of the inferior alveolar nerve during BSSO increased self-reported changes in lower lip sensation and lower lip tactile threshold after BSSO (P discrimination (P

  12. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

    NARCIS (Netherlands)

    Pierrache, Laurence H. M.; Hartel, Bas P.; van Wijk, Erwin; Meester-Smoor, Magda A.; Cremers, Frans P. M.; de Baere, Elfride; de Zaeytijd, Julie; van Schooneveld, Mary J.; Cremers, Cor W. R. J.; Dagnelie, Gislin; Hoyng, Carel B.; Bergen, Arthur A.; Leroy, Bart P.; Pennings, Ronald J. E.; van den Born, L. Ingeborgh; Klaver, Caroline C. W.

    2016-01-01

    USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. Clinic-based, longitudinal, multicenter study.

  13. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

    NARCIS (Netherlands)

    Pierrache, Laurence H M; Hartel, Bas P; van Wijk, Erwin; Meester-Smoor, Magda A; Cremers, Frans P M; de Baere, Elfride; de Zaeytijd, Julie; van Schooneveld, Mary J; Cremers, Cor W R J; Dagnelie, Gislin; Hoyng, Carel B; Bergen, Arthur A; Leroy, Bart P; Pennings, Ronald J E; van den Born, L Ingeborgh; Klaver, Caroline C W

    2016-01-01

    PURPOSE: USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. DESIGN: Clinic-based, longitudinal,

  14. Multiple Supernumerary Teeth in a Non-Syndromic Patient: A Case Report

    Directory of Open Access Journals (Sweden)

    Majid Eshgh Pour

    2013-01-01

    Full Text Available Introduction: Multiple supernumerary teeth are a rare phenomenon. It occurs more often in patients with syndromes such as Gardner's syndrome, cleidocranial dysplasia and so on. This phenomenon in absence of such syndromes is rare. The purpose of this report was to introduce a case of non-syndromic multiple supernumerary impacted teeth.Case Report: A 29-year-old woman with no skeletal, metabolic, systemic and mental disorder was referred to oral and maxillofacial department of Mashhad dental school. In clinical evaluation, seven Permanent teeth were missing. In radiographic evaluation, there were a total of 15 impacted teeth which 7 of them were supernumerary.Conclusion: Missing or Excess of one or more teeth usually leads to occlusal and functional problems. In these cases, a complete clinical and radiographic examination accompanieal by a precise history should be performed to plan a suitable surgical-orthodontic-prosthetic treatment.

  15. Normal anatomy of the female pelvis in axial, coronal, and sagittal planes demonstrated with reformatted CT

    International Nuclear Information System (INIS)

    Constant, O.C.; Cooke, J.C.; Parsons, C.A.

    1987-01-01

    Axial CT is used in assessing gynecologic malignancies. Accurate delineation of local tumor extent in carcinoma of the cervix is important in initial staging and in planning subsequent management. A modified scanning technique produces reformatted coronal and sagittal images, which demonstrate additional valuable information about the cardinal ligaments, parametria, ureters, boundaries between the cervix, bladder, and rectum, and extension to vagina and uterus. This information is illustrated by representative axial, coronal, and sagittal scans. Familiarity with normal appearances is essential to allow correct interpretation of pathology

  16. Ipsilateral wrist-ankle movements in the sagittal plane encoded in extrinsic reference frame.

    Science.gov (United States)

    Muraoka, Tetsuro; Ishida, Yuki; Obu, Takashi; Crawshaw, Larry; Kanosue, Kazuyuki

    2013-04-01

    When performing oscillatory movements of two joints in the sagittal plane, there is a directional constraint for performing such movements. Previous studies could not distinguish whether the directional constraint reflected movement direction encoded in the extrinsic (outside the body) reference frame or in the intrinsic (the participants' torso/head) reference frame since participants performed coordinated movements in a sitting position where the torso/head was stationary relative to the external world. In order to discern the reference frame in the present study, participants performed paced oscillatory movements of the ipsilateral wrist and ankle in the sagittal plane in a standing position so that the torso/head moved relative to the external world. The coordinated movements were performed in one of two modes of coordination, moving the hand upward concomitant with either ankle plantarflexion or ankle dorsiflexion. The same directional mode relative to extrinsic space was more stable and accurate as compared with the opposite directional mode. When forearm position was changed from the pronated position to the supinated position, similar results were obtained, indicating that the results were independent of a particular coupling of muscles. These findings suggest that the directional constraint on ipsilateral joints movements in the sagittal plane reflects movement direction encoded in the extrinsic reference frame. Copyright © 2013 Elsevier Ireland Ltd and the Japan Neuroscience Society. All rights reserved.

  17. Cost, operation and hospitalization times in distraction osteogenesis versus sagittal split osteotomy

    NARCIS (Netherlands)

    van Strijen, P. J.; Breuning, K. H.; Becking, A. G.; Perdijk, F. B. T.; Tuinzing, D. B.

    2003-01-01

    Distraction osteogenesis in 'common' surgical orthodontics is mentioned as an alternative for conventional sagittal split osteotomy. After a 'learning curve' in the surgical skills of distraction, the two techniques can be compared concerning time and cost aspects. Forty-seven patients (male n=28,

  18. Evidence for gene-environment interaction in a genome wide study of isolated, non-syndromic cleft palate

    Science.gov (United States)

    Beaty, Terri H.; Ruczinski, Ingo; Murray, Jeffrey C.; Marazita, Mary L.; Munger, Ronald G.; Hetmanski, Jacqueline B.; Murray, Tanda; Redett, Richard J.; Fallin, M. Daniele; Liang, Kung Yee; Wu, Tao; Patel, Poorav J.; Jin, Sheng C.; Zhang, Tian Xiao; Schwender, Holger; Wu-Chou, Yah Huei; Chen, Philip K; Chong, Samuel S; Cheah, Felicia; Yeow, Vincent; Ye, Xiaoqian; Wang, Hong; Huang, Shangzhi; Jabs, Ethylin W.; Shi, Bing; Wilcox, Allen J.; Lie, Rolv T.; Jee, Sun Ha; Christensen, Kaare; Doheny, Kimberley F.; Pugh, Elizabeth W.; Ling, Hua; Scott, Alan F.

    2011-01-01

    Non-syndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international consortium. Family based association tests of single nucleotide polymorphisms (SNP) and three common maternal exposures (maternal smoking, alcohol consumption and multivitamin supplementation) were used in a combined 2 df test for gene (G) and gene-environment (G×E) interaction simultaneously, plus a separate 1 df test for G×E interaction alone. Conditional logistic regression models were used to estimate effects on risk to exposed and unexposed children. While no SNP achieved genome wide significance when considered alone, markers in several genes attained or approached genome wide significance when G×E interaction was included. Among these, MLLT3 and SMC2 on chromosome 9 showed multiple SNPs resulting in increased risk if the mother consumed alcohol during the peri-conceptual period (3 months prior to conception through the first trimester). TBK1 on chr. 12 and ZNF236 on chr. 18 showed multiple SNPs associated with higher risk of CP in the presence of maternal smoking. Additional evidence of reduced risk due to G×E interaction in the presence of multivitamin supplementation was observed for SNPs in BAALC on chr. 8. These results emphasize the need to consider G×E interaction when searching for genes influencing risk to complex and heterogeneous disorders, such as non-syndromic CP. PMID:21618603

  19. Zebrin II Is Expressed in Sagittal Stripes in the Cerebellum of Dragon Lizards (Ctenophorus sp.).

    Science.gov (United States)

    Wylie, Douglas R; Hoops, Daniel; Aspden, Joel W; Iwaniuk, Andrew N

    2016-01-01

    Aldolase C, also known as zebrin II (ZII), is a glycolytic enzyme that is expressed in cerebellar Purkinje cells of the vertebrate cerebellum. In both mammals and birds, ZII is expressed heterogeneously, such that there are sagittal stripes of Purkinje cells with high ZII expression (ZII+) alternating with stripes of Purkinje cells with little or no expression (ZII-). In contrast, in snakes and turtles, ZII is not expressed heterogeneously; rather all Purkinje cells are ZII+. Here, we examined the expression of ZII in the cerebellum of lizards to elucidate the evolutionary origins of ZII stripes in Sauropsida. We focused on the central netted dragon (Ctenophorus nuchalis) but also examined cerebellar ZII expression in 5 other dragon species (Ctenophorus spp.). In contrast to what has been observed in snakes and turtles, we found that in these lizards, ZII is heterogeneously expressed. In the posterior part of the cerebellum, on each side of the midline, there were 3 sagittal stripes consisting of Purkinje cells with high ZII expression (ZII+) alternating with 2 sagittal stripes with weaker ZII expression (ZIIw). More anteriorly, most of the Purkinje cells were ZII+, except laterally, where the Purkinje cells did not express ZII (ZII-). Finally, all Purkinje cells in the auricle (flocculus) were ZII-. Overall, the parasagittal heterogeneous expression of ZII in the cerebellum of lizards is similar to that in mammals and birds, and contrasts with the homogenous ZII+ expression seen in snakes and turtles. We suggest that a sagittal heterogeneous expression of ZII represents the ancestral condition in stem reptiles which was lost in snakes and turtles. © 2017 S. Karger AG, Basel.

  20. [Extramedullary fixation combined with intramedullary fixation in the surgical reduction of sagittal mandibular condylar fractures].

    Science.gov (United States)

    Chuanjun, Chen; Xiaoyang, Chen; Jing, Chen

    2016-10-01

    This study aimed to evaluate the clinical effect of extramedullary fixation combined with intramedullary fixation during the surgical reduction of sagittal mandibular condylar fractures. Twenty-four sagittal fractures of the mandibular condyle in18 patients were fixed by two appliances: intramedullary with one long-screw osteosynthesis or Kirschner wire and extramedullary with one micro-plate. The radiologically-recorded post-operative stability-associated com-plications included the screw/micro-plate loosening, micro-plate twisting, micro-plate fractures, and fragment rotation. The occluding relations, the maximalinter-incisal distances upon mouth opening, and the mandibular deflection upon mouth opening were evaluated based on follow-up clinical examination. Postoperative panoramic X-ray and CT scans showed good repositioning of the fragment, with no redislocation or rotation, no screw/plate loosening, and no plate-twisting or fracture. Clinical examination showed that all patients regained normal mandibular movements, ideal occlusion, and normal maximal inter-incisal distances upon mouth opening. Extramedullary fixation combined with intramedullary fixation is highly recommended for sagittal condylar fractures because of the anti-rotation effect of the fragment and the reasonable place-ment of the fixation appliances.

  1. Comparing the Effectiveness of Sagittal Balance, Foraminal Stenosis, and Preoperative Cord Rotation in Predicting Postoperative C5 Palsy.

    Science.gov (United States)

    Chugh, Arunit J S; Weinberg, Douglas S; Alonso, Fernando; Eubanks, Jason D

    2017-11-01

    Retrospective cohort review. To determine whether preoperative cord rotation is independently correlated with C5 palsy when analyzed alongside measures of sagittal balance and foraminal stenosis. Postoperative C5 palsy is a well-documented complication of cervical procedures with a prevalence of 4%-8%. Recent studies have shown a correlation with preoperative spinal cord rotation. There have been few studies, however, that have examined the role of sagittal balance and foraminal stenosis in the development of C5 palsy. A total of 77 patients who underwent cervical decompression-10 of whom developed C5 palsy-were reviewed. Sagittal balance was assessed using curvature angle and curvature index on radiographs and magnetic resonance image (MRI). Cord rotation was assessed on axial MRI. C4-C5 foraminal stenosis was assessed on sagittal MRI using area measurements and a grading scale. Demographics and information on surgical approach were gathered from chart review. Correlation with C5 palsy was performed by point-biserial, χ, and regression analyses. Point-biserial analysis indicated that only cord rotation showed significance (Pbalance did not correlate with presence of C5 palsy. Logistic regression model yielded cord rotation as the only significant independent predictor of C5 palsy. For every degree of axial cord rotation, the likelihood ratio for suffering a C5 palsy was 3.93 (95% confidence interval, 2.01-8.66; Ppoints to mechanisms other than direct compression as the etiology. In addition, the lack of correlation with postoperative changes in sagittal balance hints that measures of curvature angle and curvature index may not be appropriate to accurately predict this complication. Level 3.

  2. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability

    OpenAIRE

    Houge, G.; Rasmussen, I.H.; Hovland, R.

    2011-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the pos...

  3. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

    Science.gov (United States)

    McGee, Terri L; Seyedahmadi, Babak Jian; Sweeney, Meredith O; Dryja, Thaddeus P; Berson, Eliot L

    2010-07-01

    Usher syndrome type II (USH2) is an autosomal recessive disorder characterised by retinitis pigmentosa (RP) and mild to moderate sensorineural hearing loss. Mutations in the USH2A gene are the most common cause of USH2 and are also a cause of some forms of RP without hearing loss (ie, non-syndromic RP). The USH2A gene was initially identified as a transcript comprised of 21 exons but subsequently a longer isoform containing 72 exons was identified. The 51 exons unique to the long isoform of USH2A were screened for mutations among a core set of 108 patients diagnosed with USH2 and 80 patients with non-syndromic RP who were all included in a previously reported screen of the short isoform of USH2A. For several exons, additional patients were screened. In total, 35 deleterious mutations were identified including 17 nonsense mutations, 9 frameshift mutations, 5 splice-site mutations, and 4 small in-frame deletions or insertions. Twenty-seven mutations were novel. In addition, 65 rare missense changes were identified. A method of classifying the deleterious effect of the missense changes was developed using the summed results of four different mutation assessment algorithms, SIFT, pMUT, PolyPhen, and AGVGD. This system classified 8 of the 65 changes as 'likely deleterious' and 9 as 'possibly deleterious'. At least one mutation was identified in 57-63% of USH2 cases and 19-23% of cases of non-syndromic recessive RP (calculated without and including probable/possible deleterious changes) thus supporting that USH2A is the most common known cause of RP in the USA.

  4. Sagittal reconstruction computed tomography in metrizamide cisternography. Useful diagnostic procedure for malformations in craniovertebral junction and posterior fossa

    Energy Technology Data Exchange (ETDEWEB)

    Mochizuki, H.; Okita, N.; Fujii, T.; Yoshioka, M.; Saito, H. (Tohoku Univ., Sendai (Japan). School of Medicine)

    1982-08-01

    We studied the sagittal reconstruction technique in computed tomography with metrizamide. Ten ml of metrizamide, 170 mg iodine/ml in concentration, were injected by lumbar puncture. After diffusion of the injected metrizamide, axial computed tomograms were taken by thin slice width (5 mm) with overlapped technique. Then electrical sagittal reconstruction was carried out by optioned software. Injection of metrizamide, non-ionic water soluble contrast media, made clear contrasts among bone, brain parenchyma and cerebrospinal fluid with computed tomography. Sagittal reconstruction technique could reveal more precise details and accurate anatomical relations than ordinary axial computed tomography. This technique was applied on 3 cases (Arnold-Chiari malformation, large cisterna magna and partial agenesis cerebellar vermis), which demonstrated a useful diagnostic procedure for abnormalities of craniovertebral junction and posterior fossa. The adverse reactions of metrizamide were negligible in our series.

  5. [Research progress of mutational spectrum and pathophysiology of WFS1 gene in Wolfram syndrome and nonsyndromic low frequency sensorineural hearing loss].

    Science.gov (United States)

    Shi, S M; Han, Y H; Wang, H B

    2016-09-07

    Compound homozygous or heterozygous mutations in WFS 1 can lead to autosomal recessive Wolfram syndrome (WS), and heterozygous mutations in WFS 1 can lead to autosomal dominant non-syndromic low frequency sensorineural hearing loss (LFSNHL). In addition, mutations in the WFS region has relationship with diabetes and psychiatric diseases. In this paper, we provide an overview of genetic research with different phenotypes, including WS and LFSNHL.

  6. Simultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia.

    Science.gov (United States)

    Zhang, Xiao Xia; Wong, Sing Wai; Han, Dong; Feng, Hai Lan

    2015-01-01

    To describe the simultaneous occurence of an autosomal dominant inherited MSX1 mutation and an X-linked recessive inherited EDA mutation in one Chinese family with nonsyndromic oligodontia. Clinical data of characteristics of tooth agenesis were collected. MSX1 and EDA gene mutations were detected in a Chinese family of non-syndromic oligodontia. Mild hypodontia in the parents and severe oligodontia in the son was recorded. A novel missense heterozygous mutation c.517C>A (p.Arg173Ser) was detected in the MSX1 gene in the boy and the father. A homozygous missense mutation c.1001G>A (p.Arg334His) was detected in the EDA gene in the boy and the same mutant occurred heterozygously in the mother. Simultaneous occurence of two different gene mutations with different inheritence patterns, which both caused oligodontia, which occurred in one subject and in one family, was reported.

  7. Surgical treatment of sagittal fracture of mandibular condyle using long-screw osteosynthesis.

    Science.gov (United States)

    Luo, Shufang; Li, Bo; Long, Xing; Deng, Mohong; Cai, Hengxing; Cheng, Yong

    2011-07-01

    The retrospective study evaluated long-screw (bicortical screw) osteosynthesis used in the surgical treatment of sagittal fracture of the mandibular condyle and compared it with titanium plates and removal of the condylar fragment. Ninety-five patients with sagittal fracture of the mandibular condyle received open surgical treatment from 1997 to 2008. Among these patients, the condylar fragments were fixed with long screws in 56 cases (group A), were fixed with titanium plates in 12 cases (group B), and were completely removed in 24 cases (group C). Follow-up was carried out clinically and radiologically. The clinical features included limitation of mandibular mobility, occlusion disturbance, lateral deviation on mouth opening, joint pain, clicking, facial asymmetry, and patient's subjective evaluation. The radiologic parameters consisted of degree of bony resorption, bony change, change of osteosynthesis material, and shortening of mandibular ramus height. Anatomic reduction and functional restoration were obtained and no severe complication was detected in group A. However, 3 of 14 patients had severe osteoarthrosis and 2 of 14 patients had ankylosis in group B. In group C 3 of 24 patients had mandibular retrusion, 4 of 24 patients had front teeth open bite, 4 of 24 patients had severe osteoarthrosis, and 1 of 24 patients had ankylosis. The long-screw fixation group had a more favorable prognosis than the titanium plate group and the group in which removal of the condylar fragment was performed. The long-screw fixation technique might be suitable for use in the surgical treatment of sagittal fractures of the mandibular condyle. Copyright © 2011 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  8. Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

    Science.gov (United States)

    Nguyen, Thanh-Minh T; Hull, Sarah; Roepman, Ronald; van den Born, L Ingeborgh; Oud, Machteld M; de Vrieze, Erik; Hetterschijt, Lisette; Letteboer, Stef J F; van Beersum, Sylvia E C; Blokland, Ellen A; Yntema, Helger G; Cremers, Frans P M; van der Zwaag, Paul A; Arno, Gavin; van Wijk, Erwin; Webster, Andrew R; Haer-Wigman, Lonneke

    2017-09-01

    Recent findings suggesting that Abelson helper integration site 1 ( AHI1 ) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1 variants cause non-syndromic retinitis pigmentosa (RP). Exome sequencing was performed in three probands with RP. The effects of the identified missense variants in AHI1 were predicted by three-dimensional structure homology modelling. Ciliary parameters were evaluated in patient's fibroblasts, and recombinant mutant proteins were expressed in ciliated retinal pigmented epithelium cells. In the three patients with RP, three sets of compound heterozygous variants were detected in AHI1 (c.2174G>A; p.Trp725* and c.2258A>T; p.Asp753Val, c.660delC; p.Ser221Glnfs*10 and c.2090C>T; p.Pro697Leu, c.2087A>G; p.His696Arg and c.2429C>T; p.Pro810Leu). All four missense variants were present in the conserved WD40 domain of Jouberin, the ciliary protein encoded by AHI1 , with variable predicted implications for the domain structure. No significant changes in the percentage of ciliated cells, nor in cilium length or intraflagellar transport were detected. However, expression of mutant recombinant Jouberin in ciliated cells showed a significantly decreased enrichment at the ciliary base. This report confirms that mutations in AHI1 can underlie autosomal recessive RP. Moreover, it structurally and functionally validates the effect of the RP-associated AHI1 variants on protein function, thus proposing a new genotype-phenotype correlation for AHI1 mutation associated retinal ciliopathies. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  9. The Role of Proprioception in the Sagittal Setting of Anticipatory Postural Adjustments During Gait Initiation

    Directory of Open Access Journals (Sweden)

    Pereira Marcelo P.

    2015-12-01

    Full Text Available Purpose. Previous studies have studied the role of proprioception on the setting of anticipatory postural adjustments (APA during gait initiation. However, these studies did not investigate the role of proprioception in the sagittal APA setting. We aimed to investigate the role of proprioception manipulation to induce APA sagittal adaptations on gait initiation. Methods. Fourteen healthy adults performed gait initiation without, and with, vibration applied before movement onset, and during movement. In addition, the effects of two different vibration frequencies (80 and 120Hz were tested. Vibration was applied bilaterally on the tibialis anterior, rectus femoris and trapezius superior. The first step characteristics, ground reaction forces and CoP behaviour were assessed. Results. Vibration improved gait initiation performance regardless of the moment it was applied. CoP velocity during the initial phase of APA was increased by vibration only when it was applied before movement. When vibration was applied to disturb the movement, no effects on the CoP behaviour were observed. Manipulation of vibration frequency had no effects. Conclusions. Rather than proprioception manipulation, the results suggest that post-vibratory effects and attentional mechanisms were responsible for our results. Taken together, the results show that sagittal APA setting is robust to proprioception manipulation.

  10. Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

    Science.gov (United States)

    Khordadpoor-Deilamani, Faravareh; Akbari, Mohammad Taghi; Karimipoor, Morteza; Javadi, Gholam Reza

    2016-05-01

    Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented hair, skin and eyes. It is associated with decreased visual acuity, nystagmus, strabismus and photophobia. Six genes are known to be involved in nonsyndromic oculocutaneous albinism (OCA). In this study, we aimed to find the disease causing mutations in albinism patients using homozygosity mapping. Twenty three unrelated patients with nonsyndromic OCA or autosomal recessive ocular albinism were recruited in this study. All of the patients' parents had consanguineous marriage and all were screened for TYR mutations previously. At first, we performed homozygosity mapping using fluorescently labeled primers to amplify a novel panel of 13 STR markers inside the OCA genes and then the screened loci in each family were studied using PCR and cycle sequencing methods. We found five mutations including three mutations in OCA2, one mutation in SLC45A2 and one mutation in C10ORF11 genes, all of which were novel. In cases where the disease causing mutations are identical by descent due to a common ancestor, these STR markers can enable us to screen for the responsible genes.

  11. Does Andrews facial analysis predict esthetic sagittal maxillary position?

    Science.gov (United States)

    Resnick, Cory M; Daniels, Kimberly M; Vlahos, Maryann

    2018-04-01

    Cephalometric analyses have limited utility in planning maxillary sagittal position for orthognathic surgery. In Six Elements of Orofacial Harmony, Andrews quantified maxillary position relative to forehead projection and angulation and proposed an ideal relationship. The purpose of this study was to investigate the ability of this technique to predict esthetic sagittal maxillary position. Survey study including a male and female with straight facial profiles, normal maxillary incisor angulations, and Angle's Class I. Maxillary position was modified on lateral photographs to create 5 images for each participant with incisor-goal anterior limit line (GALL) distances of -4, -2, 0, +2, and +4 mm. A series of health care professionals and laypeople were asked to rate each photo in order of attractiveness. A total of 100 complete responses were received. Incisor-GALL distances of +4 mm (41%) and +2 mm (40%) were most commonly considered "most esthetic" for the female volunteer (P < .001). For the male volunteer, there were 2 peak "most esthetic" responses: incisor-GALL distances of 0 mm (37%) and -4 mm (32%) (P < .001). Respondents considered maxillary incisor position 2 to 4 mm anterior to GALL most attractive in a woman and 0 to 4 mm posterior to GALL most esthetic in a man. Using these modified target distances, this analysis may be useful for orthognathic surgery planning. Copyright © 2018 Elsevier Inc. All rights reserved.

  12. Transforaminal Anterior Release for the Treatment of Fixed Sagittal Imbalance and Segmental Kyphosis, Minimum 2-Year Follow-Up Study.

    Science.gov (United States)

    Sweet, Fred A; Sweet, Andrea

    2015-09-01

    Retrospective review of prospectively accrued patient cohort. To report minimum 2 years' follow-up after a single-surgeon series of 47 consecutive patients in whom fixed sagittal imbalance or segmental kyphosis was treated with a novel unilateral transforaminal annular release. Fixed sagittal imbalance has been treated most recently with pedicle subtraction osteotomy with great success but is associated with significant blood loss and neurologic risk. Forty-seven consecutive patients with fixed sagittal imbalance (n = 29) or segmental kyphosis (n = 18) were treated by a single surgeon with a single-level transforaminal anterior release (TFAR) to effect an opening wedge correction. Sagittal and coronal correction was performed with in situ rod contouring. An interbody cage was captured in the disc space with rod compression. Radiographic and clinical outcome analysis was performed with a minimum 2-year follow-up (range 2-7.8 years). The average increase in lordosis was 36° (range 24°-56°) in the fixed sagittal deformity group. Coronal corrections averaged 34° (range 18°-48°). The average improvement in plumb line was 13.6 cm. There were four pseudarthroses, one at the TFAR. Average blood loss was 578 mL (range 200-1,200). One patient had a transient grade 4/5 anterior tibialis weakness. There were no vascular injuries or permanent neurologic deficits. There were significant improvements in the Oswestry Disability Index (p imbalance with relatively low blood loss and was found to be neurologically safe in this single-surgeon series. Therapeutic study, Level IV (case series, no control group). Copyright © 2015 Scoliosis Research Society. Published by Elsevier Inc. All rights reserved.

  13. Histologic and immunohistochemical characteristics of cutaneous cysts in Goltz-Gorlin syndrome: clues for differentiation of nonsyndromic cysts.

    Science.gov (United States)

    Tirado, Mariantonieta; Ständer, Sonja; Metze, Dieter

    2014-11-01

    Goltz-Gorlin syndrome presents with multiple basal cell carcinomas, odontogenic keratocysts, and cutaneous cysts, among other manifestations. The cutaneous cysts have been described as both epidermoid cysts and keratocysts but were not further characterized. Light microscopic examinations were made on 23 cutaneous cysts in 4 patients associated with Goltz-Gorlin syndrome located on extremities, face, trunk, palms, and soles and compared with nonsyndromic vellus hair cysts, steatocystomas, and hybrid cysts. Twenty-one of the syndromic cysts revealed alternating infundibular-like and steatocystoma-like squamous epitheliums in varying proportions. The cysts were lined by both smooth and corrugated squamous epithelium. The horny layer was composed by alternating areas of thin, lamellate, and compact eosinophilic keratin. Only 2 cases showed an exclusive steatocystoma-like type of epithelium very similar to odontogenic keratocysts. Sebaceous glands and follicular structures were absent. There were no differences between palmar and plantar cysts and other anatomic locations. The ultrastructural findings in syndromatic cysts confirmed variable expression of keratohyalin granules. Only 3 of 6 cases of nonsyndromic hybrid cysts showed overlapping features with syndromic cysts. Immunohistochemical profiling of keratin, involucrin, filaggrin, loricrin, and BCL-2 expression in syndromatic cysts showed exclusive positivity of K19 and continuous staining for BCL-2. In summary, 2 types of cutaneous cysts are characteristic of Goltz-Gorlin, irrelevant of their anatomic location, namely steatocystoma-like and more frequently hybrid-like. The diagnosis of syndromic hybrid-like cysts should be considered whenever infundibular and steatocystoma differentiation alternate and overlap. Altogether, these findings in epithelial cysts may raise the suspicion of Goltz-Gorlin as an underlying cause.

  14. Risk of leukemia in first degree relatives of patients with nonsyndromic cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Eduardo GONÇALVES

    2014-01-01

    Full Text Available The aim of this study was to determine the frequency of leukemia in parents of patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P. This case-control study evaluated first-degree family members of 358 patients with NSCL/P and 1,432 subjects without craniofacial alterations or syndromes. Statistical analysis was carried out using Fisher’s test. From the 358 subjects with NSCL/P, 3 first-degree parents had history of leukemia, while 2 out of 1,432 subjects from the unaffected group had a family history of leukemia. The frequency of positive family history of leukemia was not significantly increased in first-degree relatives of patients with NSCL/P.

  15. Sagittal balance in scoliosis associated with Marfan syndrome: a stereoradiographic three-dimensional analysis.

    Science.gov (United States)

    Glard, Yann; Pomero, Vincent; Collignon, Patrick; Skalli, Wafa; Jouve, Jean-Luc; Bollini, Gérard

    2008-03-01

    Marfan syndrome (MFS) is a genetic disease often marked by the presence of scoliosis. There is no three-dimensional analysis of the deformity in the literature. Our aim was to determine what kind of sagittal balance defines scoliosis associated with MFS, namely a flexion deformity, as it is in scoliosis associated with Chiari I or an extension deformity, as in adolescent idiopathic scoliosis (AIS). To address this issue, we compared the presence or absence of a thoracic scoliosis with the presence or absence of a segment in extension in the thoracic spine. In our series, 30 patients diagnosed with Marfan syndrome were prospectively included. In each patient, personalized three-dimensional reconstruction from T1 to L5 of the spine was made using stereoradiography. The patients were first separated based on the presence or absence of thoracic scoliosis, in order to compare this with the presence or absence of a segment in extension in the thoracic spine. They were then classified into two groups based on the presence or absence of the segment in extension (meaning containing negative values of inter-vertebral sagittal rotation) in the thoracic spine. Among scoliotic patients with a thoracic scoliosis (17 cases), there were 13 (76.5% cases) with a segment in extension in the thoracic spine and 4 with no segment in extension. Our results showed that scoliosis associated with MFS is somehow original, demonstrating a sagittal balance in extension (as AIS) in about 80% of thoracic curves, but without this characteristic feature in about 20%.

  16. Prenatal MR imaging of Dandy-Walker complex: Midline sagittal area analysis

    International Nuclear Information System (INIS)

    Wong, Alex M.; Bilaniuk, Larissa T.; Zimmerman, Robert A.; Liu, P.L.

    2012-01-01

    Objective: To measure the mid-sagittal areas of vermis (VA) and of posterior fossa (PFA) and determine their differences among fetuses with various Dandy-Walker (DW) entities and control subjects. Methods: We reviewed data in 25 fetal patients with a MR diagnosis of DW complex including hypoplastic vermis (HV), HV with rotation (HVR), and mega cistern magna (MCM), and in 85 fetal controls with normal CNS. PFA and VA of each subject were manually traced on mid-sagittal MR images. Regarding each of VA and PFA, after age correction, we determined statistically significant differences among HVR, HV, MCM, and control groups. Results: The mean VA residue of MCM was greater than that of the control, which was in turn greater than those of HVR and HV. The mean PF residue of the control was smaller than all other groups. Conclusion: Fetuses with HVR or HV had smaller VA than fetuses with MCM or control subjects. Fetuses with MCM, HVR, or HV had larger PFA than control subjects. These results may be an early step leading to better understanding of the confusion about the PF anomalies in future.

  17. Comparing Outcomes and Cost of 3 Surgical Treatments for Sagittal Synostosis: A Retrospective Study Including Procedure-Related Cost Analysis.

    Science.gov (United States)

    Garber, Sarah T; Karsy, Michael; Kestle, John R W; Siddiqi, Faizi; Spanos, Stephen P; Riva-Cambrin, Jay

    2017-10-01

    Neurosurgical techniques for repair of sagittal synostosis include total cranial vault (TCV) reconstruction, open sagittal strip (OSS) craniectomy, and endoscopic strip (ES) craniectomy. To evaluate outcomes and cost associated with these 3 techniques. Via retrospective chart review with waiver of informed consent, the last consecutive 100 patients with sagittal synostosis who underwent each of the 3 surgical correction techniques before June 30, 2013, were identified. Clinical, operative, and process of care variables and their associated specific charges were analyzed along with overall charge. The study included 300 total patients. ES patients had fewer transfusion requirements (13% vs 83%, P cost savings compared with the TCV reconstruction. The charges were similar to those incurred with OSS craniectomy, but patients had a shorter length of stay and fewer revisions. Copyright © 2017 by the Congress of Neurological Surgeons

  18. Effects of In Utero Thyroxine Exposure on Murine Cranial Suture Growth.

    Directory of Open Access Journals (Sweden)

    R Nicole Howie

    Full Text Available Large scale surveillance studies, case studies, as well as cohort studies have identified the influence of thyroid hormones on calvarial growth and development. Surveillance data suggests maternal thyroid disorders (hyperthyroidism, hypothyroidism with pharmacological replacement, and Maternal Graves Disease are linked to as much as a 2.5 fold increased risk for craniosynostosis. Craniosynostosis is the premature fusion of one or more calvarial growth sites (sutures prior to the completion of brain expansion. Thyroid hormones maintain proper bone mineral densities by interacting with growth hormone and aiding in the regulation of insulin like growth factors (IGFs. Disruption of this hormonal control of bone physiology may lead to altered bone dynamics thereby increasing the risk for craniosynostosis. In order to elucidate the effect of exogenous thyroxine exposure on cranial suture growth and morphology, wild type C57BL6 mouse litters were exposed to thyroxine in utero (control = no treatment; low ~167 ng per day; high ~667 ng per day. Thyroxine exposed mice demonstrated craniofacial dysmorphology (brachycranic. High dose exposed mice showed diminished area of the coronal and widening of the sagittal sutures indicative of premature fusion and compensatory growth. Presence of thyroid receptors was confirmed for the murine cranial suture and markers of proliferation and osteogenesis were increased in sutures from exposed mice. Increased Htra1 and Igf1 gene expression were found in sutures from high dose exposed individuals. Pathways related to the HTRA1/IGF axis, specifically Akt and Wnt, demonstrated evidence of increased activity. Overall our data suggest that maternal exogenous thyroxine exposure can drive calvarial growth alterations and altered suture morphology.

  19. Effects of In Utero Thyroxine Exposure on Murine Cranial Suture Growth.

    Science.gov (United States)

    Howie, R Nicole; Durham, Emily L; Black, Laurel; Bennfors, Grace; Parsons, Trish E; Elsalanty, Mohammed E; Yu, Jack C; Weinberg, Seth M; Cray, James J

    2016-01-01

    Large scale surveillance studies, case studies, as well as cohort studies have identified the influence of thyroid hormones on calvarial growth and development. Surveillance data suggests maternal thyroid disorders (hyperthyroidism, hypothyroidism with pharmacological replacement, and Maternal Graves Disease) are linked to as much as a 2.5 fold increased risk for craniosynostosis. Craniosynostosis is the premature fusion of one or more calvarial growth sites (sutures) prior to the completion of brain expansion. Thyroid hormones maintain proper bone mineral densities by interacting with growth hormone and aiding in the regulation of insulin like growth factors (IGFs). Disruption of this hormonal control of bone physiology may lead to altered bone dynamics thereby increasing the risk for craniosynostosis. In order to elucidate the effect of exogenous thyroxine exposure on cranial suture growth and morphology, wild type C57BL6 mouse litters were exposed to thyroxine in utero (control = no treatment; low ~167 ng per day; high ~667 ng per day). Thyroxine exposed mice demonstrated craniofacial dysmorphology (brachycranic). High dose exposed mice showed diminished area of the coronal and widening of the sagittal sutures indicative of premature fusion and compensatory growth. Presence of thyroid receptors was confirmed for the murine cranial suture and markers of proliferation and osteogenesis were increased in sutures from exposed mice. Increased Htra1 and Igf1 gene expression were found in sutures from high dose exposed individuals. Pathways related to the HTRA1/IGF axis, specifically Akt and Wnt, demonstrated evidence of increased activity. Overall our data suggest that maternal exogenous thyroxine exposure can drive calvarial growth alterations and altered suture morphology.

  20. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability.

    Science.gov (United States)

    Houge, G; Rasmussen, I H; Hovland, R

    2012-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the post-synaptic density, and a role in RAS/MAPK-dependent signal transduction.

  1. Value of sagittal color Doppler ultrasonography as a supplementary tool in the differential diagnosis of fetal cleft lip and palate

    International Nuclear Information System (INIS)

    Lee, Myoung Seok; Cho, Jeong Yeon; Kim, Sang Youn; Kim, Seung Hyup; Park, Joong Shin; Jun, Jong Kwan

    2017-01-01

    The purpose of this study was to evaluate the feasibility and usefulness of sagittal color Doppler ultrasonography (CDUS) for the diagnosis of fetal cleft lip (CL) and cleft palate (CP). We performed targeted ultrasonography on 25 fetuses with CL and CP, taking coronal and axial images of the upper lip and maxillary alveolar arch in each case. The existence of defects in and malalignment of the alveolus on the axial image, hard palate defects on the midsagittal image, and flow-through defects on CDUS taken during fetal breathing or swallowing were assessed. We compared the ultrasonography findings with postnatal findings in all fetuses. Alveolar defects were detected in 16 out of 17 cases with CP and four out of eight cases with CL. Alveolar malalignment and hard palate defects were detected in 11 out of 17 cases and 14 out of 17 cases with CP, respectively, but not detected in any cases with CL. Communicating flow through the palate defect was detected in 11 out of 17 cases of CL with CP. The accuracy of detection in axial scans of an alveolar defect and malalignment was 80% and 76%, respectively. Accuracy of detection of in mid-sagittal images of hard palate defect and flow was 80% and 86%, respectively. The overall diagnostic accuracy of combined axial and sagittal images with sagittal CDUS was 92%. Sagittal CDUS of the fetal hard palate is a feasible method to directly reveal hard palate bony defects and flow through defects, which may have additional value in the differential diagnosis of fetal CL and CP

  2. Value of sagittal color Doppler ultrasonography as a supplementary tool in the differential diagnosis of fetal cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Myoung Seok [Dept. of Radiology, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, Seoul (Korea, Republic of); Cho, Jeong Yeon; Kim, Sang Youn; Kim, Seung Hyup [Dept. of Radiology, Seoul National University Hospital, Seoul (Korea, Republic of); Park, Joong Shin; Jun, Jong Kwan [College of Medicine, Seoul National University, Seoul (Korea, Republic of)

    2017-01-15

    The purpose of this study was to evaluate the feasibility and usefulness of sagittal color Doppler ultrasonography (CDUS) for the diagnosis of fetal cleft lip (CL) and cleft palate (CP). We performed targeted ultrasonography on 25 fetuses with CL and CP, taking coronal and axial images of the upper lip and maxillary alveolar arch in each case. The existence of defects in and malalignment of the alveolus on the axial image, hard palate defects on the midsagittal image, and flow-through defects on CDUS taken during fetal breathing or swallowing were assessed. We compared the ultrasonography findings with postnatal findings in all fetuses. Alveolar defects were detected in 16 out of 17 cases with CP and four out of eight cases with CL. Alveolar malalignment and hard palate defects were detected in 11 out of 17 cases and 14 out of 17 cases with CP, respectively, but not detected in any cases with CL. Communicating flow through the palate defect was detected in 11 out of 17 cases of CL with CP. The accuracy of detection in axial scans of an alveolar defect and malalignment was 80% and 76%, respectively. Accuracy of detection of in mid-sagittal images of hard palate defect and flow was 80% and 86%, respectively. The overall diagnostic accuracy of combined axial and sagittal images with sagittal CDUS was 92%. Sagittal CDUS of the fetal hard palate is a feasible method to directly reveal hard palate bony defects and flow through defects, which may have additional value in the differential diagnosis of fetal CL and CP.

  3. Subjective alveolar nerve function after bilateral sagittal split osteotomy or distraction osteogenesis of mandible

    NARCIS (Netherlands)

    Baas, E.M.; Horsthuis, R.B.G.; de Lange, J.

    2012-01-01

    Purpose: The present retrospective cohort study compared the subjective inferior alveolar nerve (IAN) function after distraction osteogenesis (DOG) and bilateral sagittal split osteotomy (BSSO) in mandibular advancement surgery. Materials and Methods: Treatment consisted of correction of a

  4. Subjective Alveolar Nerve Function After Bilateral Sagittal Split Osteotomy or Distraction Osteogenesis of Mandible

    NARCIS (Netherlands)

    Baas, Erik M.; Horsthuis, Roy B. G.; de Lange, Jan

    2012-01-01

    Purpose: The present retrospective cohort study compared the subjective inferior alveolar nerve (IAN) function after distraction osteogenesis (DOG) and bilateral sagittal split osteotomy (BSSO) in mandibular advancement surgery. Materials and Methods: Treatment consisted of correction of a

  5. Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.

    Science.gov (United States)

    Jehee, Fernanda Sarquis; Alonso, Luis G; Cavalcanti, Denise P; Kim, Chong; Wall, Steven A; Mulliken, John B; Sun, Miao; Jabs, Ethylin Wang; Boyadjiev, Simeon A; Wilkie, Andrew O M; Passos-Bueno, Maria Rita

    2006-03-01

    Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes. Using single-strand conformational polymorphisms (SSCPs), denaturing high-performance liquid chromatography, and/or direct sequencing, we analyzed a total of 81 patients for FGFR1 (exon 7), 70 for CER1, and 44 for CDON. Patients were ascertained in the Centro de Estudos do Genoma Humano in São Paulo, Brazil (n = 39), the Craniofacial Unit, Oxford, U.K. (n = 23), and the Johns Hopkins University, Baltimore, Maryland (n = 31). Clinical inclusion criteria included a triangular head and/or forehead, with or without a metopic ridge, and a radiographic documentation of metopic synostosis. Both syndromic and nonsyndromic patients were studied. No sequence alterations were found for FGFR1 (exon 7). Different patterns of SSCP migration for CER1 compatible with the segregation of single nucleotide polymorphisms reported in the region were identified. Seventeen sequence alterations were detected in the coding region of CDON, seven of which are new, but segregation analysis in parents and homology studies did not indicate a pathological role. FGFR1 (exon 7), CER1, and CDON are not related to trigonocephaly in our sample and should not be considered as causative genes for metopic synostosis. Screening of FGFR1 (exon 7) for diagnostic purposes should not be performed in trigonocephalic patients.

  6. BMD measurements of the spine derived from sagittal reformations of contrast-enhanced MDCT without dedicated software

    Energy Technology Data Exchange (ETDEWEB)

    Baum, Thomas, E-mail: thbaum@gmx.de [Institut fuer Roentgendiagnostik, Klinikum rechts der Isar, Technische Universitaet Muenchen, Ismaninger Str. 22, 81675 Muenchen (Germany); Mueller, Dirk, E-mail: dirk.mueller@roe.med.tum.de [Institut fuer Roentgendiagnostik, Klinikum rechts der Isar, Technische Universitaet Muenchen, Ismaninger Str. 22, 81675 Muenchen (Germany); Dobritz, Martin, E-mail: dobritz@roe.med.tum.de [Institut fuer Roentgendiagnostik, Klinikum rechts der Isar, Technische Universitaet Muenchen, Ismaninger Str. 22, 81675 Muenchen (Germany); Rummeny, Ernst J., E-mail: institut@roe.med.tum.de [Institut fuer Roentgendiagnostik, Klinikum rechts der Isar, Technische Universitaet Muenchen, Ismaninger Str. 22, 81675 Muenchen (Germany); Link, Thomas M., E-mail: thomas.link@radiology.ucsf.edu [Musculoskeletal and Quantitative Imaging Research, Department of Radiology and Biomedical Imaging, University of California San Francisco, 185 Berry Street, Suite 350, San Francisco, CA 94107 (United States); Bauer, Jan S., E-mail: jsb@roe.med.tum.de [Institut fuer Roentgendiagnostik, Klinikum rechts der Isar, Technische Universitaet Muenchen, Ismaninger Str. 22, 81675 Muenchen (Germany)

    2011-11-15

    Purpose: To assess QCT equivalent BMD of the lumbar spine in sagittal reformations of routine abdominal contrast-enhanced MDCT with simple PACS measurement tools and to apply this method to MDCT datasets for differentiating patients with and without osteoporotic vertebral fractures. Materials and methods: Eight postmenopausal women (65 {+-} 5years) underwent standard QCT to assess BMD of L1-L3. Afterwards routine abdominal contrast-enhanced MDCT images of these women were obtained and apparent BMD of L1-L3 was measured using the sagittal reformations. The MDCT-to-QCT conversion equation for BMD was calculated with linear regression analysis. The conversion equation was applied to vertebral BMD datasets (L1-L3) of 75 postmenopausal women (66 {+-} 4years). Seventeen of the 75 patients had osteoporotic vertebral fractures. Results: BMD values of contrast-enhanced MDCT were on average 56 mg/ml higher than those of standard QCT. A correlation coefficient of r = 0.94 (p < 0.05) was calculated for the BMD values of MDCT and standard QCT with the conversion equation BMD{sub QCT} = 0.69 x BMD{sub MDCT} - 11 mg/ml. Accordingly converted BMD values of patients with vertebral fractures were significantly lower than those of patients without vertebral fractures (69 mg/ml vs. 85 mg/ml; p < 0.05). Using ROC analysis to differentiate patients with and without vertebral fractures, AUC = 0.72 was obtained for converted BMD values (p < 0.05). Short- and long-term reproducibility errors for BMD measurements in the sagittal reformations amounted 2.09% and 7.70%, respectively. Conclusion: BMD measurements of the spine could be computed in sagittal reformations of routine abdominal contrast-enhanced MDCT with minimal technical and time effort. Using the conversion equation, the acquired BMD data could differentiate patients with and without osteoporotic vertebral fractures.

  7. X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

    NARCIS (Netherlands)

    Synofzik, Matthis; Müller Vom Hagen, Jennifer; Haack, Tobias B.; Wilhelm, Christian; Lindig, Tobias; Beck-Wödl, Stefanie; Nabuurs, Sander B.; van Kuilenburg, André B. P.; de Brouwer, Arjan P. M.; Schöls, Ludger

    2014-01-01

    X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in PRPS1. As only few families have been

  8. Role of thoracoscopy for the sagittal correction of hypokyphotic adolescent idiopathic scoliosis patients.

    Science.gov (United States)

    Ferrero, E; Pesenti, S; Blondel, B; Jouve, J L; Mazda, K; Ilharreborde, B

    2014-12-01

    Thoracic adolescent idiopathic scoliosis (AIS) curves (Lenke 1-4) are often characterized by hypokyphosis. Sagittal alignment remains challenging to correct, even with recent posterior segmental instrumentation. Some authors recommend anterior endoscopic release (AER) to reduce anterior column height, and facilitate thoracic kyphosis correction. The aim of this study was to assess the contribution of AER to sagittal correction in hypokyphotic AIS. Fifty-six hypokyphotic (T4T12<20°) AIS patients were included. In group 1 (28 patients), patients first underwent AER, followed by posterior instrumentation and correction 5-7 days later. In group 2 (28 patients), patients underwent the same posterior procedure without AER. Posterior correction was performed in all cases using posteromedial translation and hybrid constructs consisting of lumbar pedicle screws and thoracic sublaminar bands. From radiological measurements performed using low-dose EOS radiographs, the correction of thoracic kyphosis was compared between the two groups. Groups 1 and 2 were comparable regarding demographic data and preoperative thoracic kyphosis (group 1: 11.7° ± 6.9° vs group 2: 12.1° ± 6.3°, p = 0.89). Postoperative thoracic kyphosis increase averaged 18.3° ± 13.6° in group 1 and 15.2° ± 9.0° in group 2. The benefit of anterior release was not statistically significant (p = 0.35). Although previous studies have suggested that thoracoscopic release improved correction compared to posterior surgery alone, the current study did not confirm this finding. Moreover, results of the current series showed that no significant benefit can be expected from AER in terms of sagittal plane improvement when the posteromedial translation technique is used, even in challenging hypokyphotic patients.

  9. Association of baseline knee sagittal dynamic joint stiffness during gait and 2-year patellofemoral cartilage damage worsening in knee osteoarthritis.

    Science.gov (United States)

    Chang, A H; Chmiel, J S; Almagor, O; Guermazi, A; Prasad, P V; Moisio, K C; Belisle, L; Zhang, Y; Hayes, K; Sharma, L

    2017-02-01

    Knee sagittal dynamic joint stiffness (DJS) describes the biomechanical interaction between change in external knee flexion moment and flexion angular excursion during gait. In theory, greater DJS may particularly stress the patellofemoral (PF) compartment and thereby contribute to PF osteoarthritis (OA) worsening. We hypothesized that greater baseline knee sagittal DJS is associated with PF cartilage damage worsening 2 years later. Participants all had OA in at least one knee. Knee kinematics and kinetics during gait were recorded using motion capture systems and force plates. Knee sagittal DJS was computed as the slope of the linear regression line for knee flexion moments vs angles during the loading response phase. Knee magnetic resonance imaging (MRI) scans were obtained at baseline and 2 years later. We assessed the association between baseline DJS and baseline-to-2-year PF cartilage damage worsening using logistic regression with generalized estimating equations (GEE). Our sample had 391 knees (204 persons): mean age 64.2 years (SD 10.0); body mass index (BMI) 28.4 kg/m 2 (5.7); 76.5% women. Baseline knee sagittal DJS was associated with baseline-to-2-year cartilage damage worsening in the lateral (OR = 5.35, 95% CI: 2.37-12.05) and any PF (OR = 2.99, 95% CI: 1.27-7.04) compartment. Individual components of baseline DJS (i.e., change in knee moment or angle) were not associated with subsequent PF disease worsening. Capturing the concomitant effect of knee kinetics and kinematics during gait, knee sagittal DJS is a potentially modifiable risk factor for PF disease worsening. Copyright © 2016 Osteoarthritis Research Society International. Published by Elsevier Ltd. All rights reserved.

  10. Global analysis of sagittal spinal alignment in major deformities: correlation between lack of lumbar lordosis and flexion of the knee.

    Science.gov (United States)

    Obeid, Ibrahim; Hauger, Olivier; Aunoble, Stéphane; Bourghli, Anouar; Pellet, Nicolas; Vital, Jean-Marc

    2011-09-01

    It has become well recognised that sagittal balance of the spine is the result of an interaction between the spine and the pelvis. Knee flexion is considered to be the last compensatory mechanism in case of sagittal imbalance, but only few studies have insisted on the relationship between spino-pelvic parameters and lower extremity parameters. Correlation between the lack of lumbar lordosis and knee flexion has not yet been established. A retrospective study was carried out on 28 patients with major spinal deformities. The EOS system was used to measure spinal and pelvic parameters and the knee flexion angle; the lack of lumbar lordosis was calculated after prediction of lumbar lordosis with two different formulas. Correlation analysis between the different measured parameters was performed. Lumbar lordosis correlated with sacral slope (r = -0.71) and moderately with knee flexion angle (r = 0.42). Pelvic tilt correlated moderately with knee flexion angle (r = 0.55). Lack of lumbar lordosis correlated best with knee flexion angle (r = 0.72 and r = 0.63 using the two formulas, respectively). Knee flexion as a compensatory mechanism to sagittal imbalance was well correlated to the lack of lordosis and, depending on the importance of the former parameter, the best procedure to correct sagittal imbalance could be chosen.

  11. Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss

    Directory of Open Access Journals (Sweden)

    Ana Paula Grillo

    2015-01-01

    Full Text Available Single nucleotide polymorphisms (SNPs are important markers in many studies that link DNA sequence variations to phenotypic changes; such studies are expected to advance the understanding of human physiology and elucidate the molecular basis of diseases. The DFNB1 locus, which contains the GJB2 and GJB6 genes, plays a key role in nonsyndromic hearing loss. Previous studies have identified important mutations in this locus, but the contribution of SNPs in the genes has not yet been much investigated. The aim of this study was to investigate the association of nine polymorphisms located within the DFNB1 locus with the occurrence of autosomal recessive nonsyndromic hearing loss (ARNSHL. The SNPs rs3751385 (C/T, rs7994748 (C/T, rs7329857 (C/T, rs7987302 (G/A, rs7322538 (G/A, rs9315400 (C/T, rs877098 (C/T, rs945369 (A/C, and rs7333214 (T/G were genotyped in 122 deaf patients and 132 healthy controls using allele-specific PCR. There were statistically significant differences between patients and controls, in terms of allelic frequencies in the SNPs rs3751385, rs7994748, rs7329857, rs7987302, rs945369, and rs7333214 (P<0.05. No significant differences between the two groups were observed for rs7322538, rs9315400, and rs877098. Our results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humans.

  12. Bioinformatic analysis of Msx1 and Msx2 involved in craniofacial development.

    Science.gov (United States)

    Dai, Jiewen; Mou, Zhifang; Shen, Shunyao; Dong, Yuefu; Yang, Tong; Shen, Steve Guofang

    2014-01-01

    Msx1 and Msx2 were revealed to be candidate genes for some craniofacial deformities, such as cleft lip with/without cleft palate (CL/P) and craniosynostosis. Many other genes were demonstrated to have a cross-talk with MSX genes in causing these defects. However, there is no systematic evaluation for these MSX gene-related factors. In this study, we performed systematic bioinformatic analysis for MSX genes by combining using GeneDecks, DAVID, and STRING database, and the results showed that there were numerous genes related to MSX genes, such as Irf6, TP63, Dlx2, Dlx5, Pax3, Pax9, Bmp4, Tgf-beta2, and Tgf-beta3 that have been demonstrated to be involved in CL/P, and Fgfr2, Fgfr1, Fgfr3, and Twist1 that were involved in craniosynostosis. Many of these genes could be enriched into different gene groups involved in different signaling ways, different craniofacial deformities, and different biological process. These findings could make us analyze the function of MSX gens in a gene network. In addition, our findings showed that Sumo, a novel gene whose polymorphisms were demonstrated to be associated with nonsyndromic CL/P by genome-wide association study, has protein-protein interaction with MSX1, which may offer us an alternative method to perform bioinformatic analysis for genes found by genome-wide association study and can make us predict the disrupted protein function due to the mutation in a gene DNA sequence. These findings may guide us to perform further functional studies in the future.

  13. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

    Science.gov (United States)

    Ahmed, Zubair M; Riazuddin, Saima; Aye, Sandar; Ali, Rana A; Venselaar, Hanka; Anwar, Saima; Belyantseva, Polina P; Qasim, Muhammad; Riazuddin, Sheikh; Friedman, Thomas B

    2008-10-01

    Mutations of PCDH15, encoding protocadherin 15, can cause either combined hearing and vision impairment (type 1 Usher syndrome; USH1F) or nonsyndromic deafness (DFNB23). Human PCDH15 is reported to be composed of 35 exons and encodes a variety of isoforms with 3-11 ectodomains (ECs), a transmembrane domain and a carboxy-terminal cytoplasmic domain (CD). Building on these observations, we describe an updated gene structure that has four additional exons of PCDH15 and isoforms that can be subdivided into four classes. Human PCDH15 encodes three alternative, evolutionarily conserved unique cytoplasmic domains (CD1, CD2 or CD3). Families ascertained on the basis of prelingual hearing loss were screened for linkage of this phenotype to markers for PCDH15 on chromosome 10q21.1. In seven of twelve families segregating USH1, we identified homozygous mutant alleles (one missense, one splice site, three nonsense and two deletion mutations) of which six are novel. One family was segregating nonsyndromic deafness DFNB23 due to a homozygous missense mutation. To date, in our cohort of 557 Pakistani families, we have found 11 different PCDH15 mutations that account for deafness in 13 families. Molecular modeling provided mechanistic insight into the phenotypic variation in severity of the PCDH15 missense mutations. We did not find pathogenic mutations in five of the twelve USH1 families linked to markers for USH1F, which suggest either the presence of mutations of yet additional undiscovered exons of PCDH15, mutations in the introns or regulatory elements of PCDH15, or an additional locus for type I USH at chromosome 10q21.1.

  14. An interactive tool for CT volume rendering and sagittal plane-picking of the prostate for radiotherapy treatment planning

    International Nuclear Information System (INIS)

    Jani, Ashesh B.; Pelizzari, Charles A.; Chen, George T.Y.; Grzezcszuk, Robert P.; Vijayakumar, Srinivasan

    1997-01-01

    Objective: Accurate and precise target volume and critical structure definition is a basic necessity in radiotherapy. The prostate, particularly the apex (an important potential site of recurrence in prostate cancer patients), is a challenging structure to define using any modality, including conventional axial CT. Invasive or expensive techniques, such as retrograde urethrography or MRI, could be avoided if localization of the prostate were possible using information already available on the planning CT. Our primary objective was to build a software tool to determine whether volume rendering and sagittal plane-picking, which are CT-based, noninvasive visualization techniques, were of utility in radiotherapy treatment planning for the prostate. Methods: Using AVS (Application Visualization System) on a Silicon Graphics Indigo 2 High Impact workstation, we have developed a tool that enables the clinician to efficiently navigate a CT volume and to use volume rendering and sagittal plane-picking to better define structures at any anatomic site. We applied the tool to the specific example of the prostate to compare the two visualization techniques with the current standard of axial CT. The prostate was defined on 80-slice CT scans (scanning thickness 4mm, pixel size 2mm x 2mm) of prostate cancer patients using axial CT images, volume-rendered CT images, and sagittal plane-picked images. Results: The navigation of the prostate using the different visualization techniques qualitatively demonstrated that the sagittal plane-picked images, and even more so the volume-rendered images, revealed the prostate (particularly the lower border) better in relationship to the surrounding regional anatomy (bladder, rectum, pelvis, and penile structures) than did the axial images. A quantitative comparison of the target volumes obtained by navigating using the different visualization techniques demonstrated that, when compared to the prostate volume defined on axial CT, a larger volume

  15. Simultaneous display of MRA and MPR in detecting vascular compression for trigeminal neuralgia or hemifacial spasm: comparison with oblique sagittal views of MRI

    International Nuclear Information System (INIS)

    Arbab, A.S.; Aoki, S.; Yoshikawa, T.; Kumagai, H.; Araki, T.; Nishiyama, Y.; Nagaseki, Y.; Nukui, H.

    2000-01-01

    A new technique, simultaneous display of magnetic resonance angiography (MRA) and multiplanar reconstruction (MPR), was performed by a workstation to identify the involved vessels in patients with trigeminal neuralgia (TN) or hemifacial spasm (HFS), and the results were compared with those of oblique sagittal MRI technique. Twelve patients with either HFS or TN were prospectively assessed by simultaneous display of MRA and MPR, and oblique sagittal techniques, to point out the neurovascular compression and to identify the involved vessels. Three-dimensional (3D) time-of-flight (TOF) spoiled gradient-echo (SPGR) images were acquired to create MRA and MPR. Oblique sagittal views were also created and displayed on films. A total of 15 vessels in 12 patients were identified as compressing vessels during surgery. Simultaneous display of MRA and MPR technique pointed out the presence of vessels at and/or around root entry/exit zone (REZ) in all 12 patients, but proper identification by the name of the individual vessel was correct in 13 of 15 cases. However, oblique sagittal technique indicated the presence of vessels at and/or around REZ in 11 patients, but only 8 of 14 vessels were correctly identified. Our new method, simultaneous display of MRA-MPR, facilitated correct identification of the involved vessels compared with the oblique sagittal view method. (orig.)

  16. Association of myelopathy scores with cervical sagittal balance and normalized spinal cord volume: analysis of 56 preoperative cases from the AOSpine North America Myelopathy study.

    Science.gov (United States)

    Smith, Justin S; Lafage, Virginie; Ryan, Devon J; Shaffrey, Christopher I; Schwab, Frank J; Patel, Alpesh A; Brodke, Darrel S; Arnold, Paul M; Riew, K Daniel; Traynelis, Vincent C; Radcliff, Kris; Vaccaro, Alexander R; Fehlings, Michael G; Ames, Christopher P

    2013-10-15

    Post hoc analysis of prospectively collected data. Development of methods to determine in vivo spinal cord dimensions and application to correlate preoperative alignment, myelopathy, and health-related quality-of-life scores in patients with cervical spondylotic myelopathy (CSM). CSM is the leading cause of spinal cord dysfunction. The association between cervical alignment, sagittal balance, and myelopathy has not been well characterized. This was a post hoc analysis of the prospective, multicenter AOSpine North America CSM study. Inclusion criteria for this study required preoperative cervical magnetic resonance imaging (MRI) and neutral sagittal cervical radiography. Techniques for MRI assessment of spinal cord dimensions were developed. Correlations between imaging and health-related quality-of-life scores were assessed. Fifty-six patients met inclusion criteria (mean age = 55.4 yr). The modified Japanese Orthopedic Association (mJOA) scores correlated with C2-C7 sagittal vertical axis (SVA) (r = -0.282, P = 0.035). Spinal cord volume correlated with cord length (r = 0.472, P balance (C2-C7 SVA) to myelopathy severity. We found a moderate negative correlation in kyphotic patients of cord volume and cross-sectional area to mJOA scores. The opposite (positive correlation) was found for lordotic patients, suggesting a relationship of cord volume to myelopathy that differs on the basis of sagittal alignment. It is interesting to note that sagittal balance but not kyphosis is tied to myelopathy score. Future work will correlate alignment changes to cord morphology changes and myelopathy outcomes. SUMMARY STATEMENTS: This is the first study to correlate sagittal balance (C2-C7 SVA) to myelopathy severity. We found a moderate negative correlation in kyphotic patients of cord volume and cross-sectional area to mJOA scores. The opposite (positive correlation) was found for lordotic patients, suggesting a relationship of cord volume to myelopathy that differs on the

  17. Influence of spinal sagittal alignment, body balance, muscle strength, and physical ability on falling of middle-aged and elderly males.

    Science.gov (United States)

    Imagama, Shiro; Ito, Zenya; Wakao, Norimitsu; Seki, Taisuke; Hirano, Kenichi; Muramoto, Akio; Sakai, Yoshihito; Matsuyama, Yukihiro; Hamajima, Nobuyuki; Ishiguro, Naoki; Hasegawa, Yukiharu

    2013-06-01

    Risk factors for falling in elderly people remain uncertain, and the effects of spinal factors and physical ability on body balance and falling have not been examined. The objective of this study was to investigate how factors such as spinal sagittal alignment, spinal range of motion, body balance, muscle strength, and gait speed influence falling in the prospective cohort study. The subjects were 100 males who underwent a basic health checkup. Balance, SpinalMouse(®) data, grip strength, back muscle strength, 10-m gait time, lumbar lateral standing radiographs, body mass index, and fall history over the previous year were examined. Platform measurements of balance included the distance of movement of the center of pressure (COP) per second (LNG/TIME), the envelopment area traced by movement of the COP (E AREA), and the LNG/E AREA ratio. The thoracic/lumbar angle ratio (T/L ratio) and sagittal vertical axis (SVA) were used as an index of sagittal balance. LNG/TIME and E AREA showed significant positive correlations with age, T/L ratio, SVA, and 10-m gait time; and significant negative correlations with lumbar lordosis angle, sacral inclination angle, grip strength and back muscle strength. Multiple regression analysis showed significant differences for LNG/TIME and E AREA with T/L ratio, SVA, lumbar lordosis angle and sacral inclination angle (R (2) = 0.399). Twelve subjects (12 %) had experienced a fall over the past year. Age, T/L ratio, SVA, lumbar lordosis angle, sacral inclination angle, grip strength, back muscle strength, 10-m gait time, height of the intervertebral disc, osteophyte formation in radiographs and LNG/E AREA differed significantly between fallers and non-fallers. The group with SVA > 40 mm (n = 18) had a significant higher number of subjects with a single fall (6 single fallers/18: p = 0.0075) and with multiple falls (4 multiple fallers/18: p = 0.0095). Good spinal sagittal alignment, muscle strength and 10-m gait speed improve body balance

  18. [Sagittal otolith morphology and the relationship between its mass and the age of Liza haematocheila in the Yangtze Estuary, China].

    Science.gov (United States)

    Ji, Yan; Zhao, Feng; Yang, Qin; Ma, Rong Rong; Yang, Gang; Zhang, Tao; Zhuang, Ping

    2018-03-01

    To examine the relationship of morphological characters of sagittal otolith and the age of Liza haematocheila in the Yangtze Estuary, we analyzed the morphological parameters of 324 pairs of otoliths extracted from 358 L. haematocheila specimens from the Yangtze Estuary in February to June of 2017. The results showed that sagittal otolith had rostrum, antirostrum and obvious central notch. The size and shape of sagittal otolith significantly changed with their growth, from regular melon seeds shape outline to long narrow leaf shape and increasing irregular wavy outline. The average density of sagittal otolith was 1.52 mg·mm -2 . The average rectangularity was 0.68. The length of sagittal otolith was 0.021%-0.047% of entire body length (BL), the width was 0.009%-0.021% of entire BL, and the mass was 0.045‰-0.731‰ of the entire body mass (BM). Otolith length (OL), otolith width (OW) and otolith mass (OM) were all significantly related to the BL, with the determination coefficient for OW and OM model being the highest (R 2 =0.928). The relationship between OM and BL was described best by exponential regression: OM=0.0009BL 1.8737 (R 2 =0.967). The relationships between OM and age (A), BL and A were well fitted by multinomial regressions, respectively: OM=2.9262A 2 +4.8437A+2.1894 (R 2 =0.847), BL=-3.2248A 2 +102.54A+38.373 (R 2 =0.858). In addition, OM was linearly correlated with A. The estimated otolith's ages from the model did not significantly variate from the real ages counting from annulus counts. Therefore, OM could be an effective parameter for the age estimation of L. haematocheila.

  19. Can a Single Sagittal Magnetic Resonance Imaging Slice Represent Whole Fatty Infiltration in Chronic Rotator Cuff Tears at the Supraspinatus?

    Science.gov (United States)

    Lee, Yong-Beom; Yang, Cheol-Jung; Li, Cheng Zhen; Zhuan, Zhong; Kwon, Seung-Cheol; Noh, Kyu-Cheol

    2018-03-01

    This study aimed to investigate whether fatty infiltration (FI) measured on a single sagittal magnetic resonance imaging (MRI) slice can represent FI of the whole supraspinatus muscle. This study retrospectively reviewed the MRIs of 106 patients (age 50-79 years) divided into three rotator cuff tear-size groups: medium, large, and massive. Fat mass and muscle mass on all T1-weighted sagittal MRI scans (FA and MA) were measured. Of the total MRI scans, the Y-view was defined as the most lateral image of the junction of the scapular spine with the scapular body on the oblique sagittal T1-weighted image. Fat mass and muscle mass seen on this Y-view single slice were recorded as F1 and M1, respectively. Fat mass and muscle mass were also assessed on MRI scans lateral and medial to the Y-view. The means of fat mass and muscle mass on these three slices were recorded as F3 and M3, respectively. Average FI ratios (fat mass/muscle mass) of the three assessment methods (F1/M1, FA/MA, and F3/M3) were compared. Intraclass correlation coefficients (ICCs) were calculated for inter- and intraobserver reliability. ICCs showed higher reliability (> 0.8) for all measurements. F1/M1 values were not statistically different from FA/MA and F3/M3 values ( p > 0.05), except in males with medium and large tears. F3/M3 and FA/MA were not statistically different. The difference between F1/M1 and FA/MA did not exceed 2%. A single sagittal MRI slice can represent the whole FI in chronic rotator cuff tears, except in some patient groups. We recommend measurement of FI using a single sagittal MRI slice, given the effort required for repeated measurements.

  20. Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate

    DEFF Research Database (Denmark)

    Beaty, Terri H; Ruczinski, Ingo; Murray, Jeffrey C

    2011-01-01

    Nonsyndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome-wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international...... consortium. Family-based association tests of single nucleotide polymorphisms (SNP) and three common maternal exposures (maternal smoking, alcohol consumption, and multivitamin supplementation) were used in a combined 2 df test for gene (G) and gene-environment (G × E) interaction simultaneously, plus...... multiple SNPs associated with higher risk of CP in the presence of maternal smoking. Additional evidence of reduced risk due to G × E interaction in the presence of multivitamin supplementation was observed for SNPs in BAALC on chr. 8. These results emphasize the need to consider G × E interaction when...

  1. Long-term Clinical and Radiographic Outcomes of Pedicle Subtraction Osteotomy for Fixed Sagittal Imbalance: Does Level of Proximal Fusion Affect the Outcome? Minimum 5-Year Follow-up.

    Science.gov (United States)

    Yagi, Mitsuru; King, Akilah B; Cunningham, Matthew E; Boachie-Adjei, Oheneba

    2013-03-01

    Retrospective case series of surgically treated adult patients with fixed sagittal imbalance. To assess clinical and radiographic changes after pedicle subtraction osteotomy (PSO) to treat adult fixed sagittal imbalance. Although recent reports have shown favorable clinical outcomes for PSO, few reports have published long-term follow-up outcomes. It is also unknown whether long-term outcomes are correlated with the level of proximal fusion and the radiographic changes that are observed after PSO. We reviewed the charts, X-rays, and postoperative SRS-22 and Oswestry Disability Index (ODI) scores of 32 adult patients who presented with fixed sagittal imbalance and were treated with lumbar PSO. Long fusions were defined as those proximal to T6, and short fusions were defined as those below T8. Measured radiographic parameters included thoracic kyphosis, lumbar lordosis (LL), sacral slope, pelvic incidence, and sagittal balance (SVA). Statistical analysis included Student t test and chi-square test. A p value of imbalance, PSO provided good sagittal balance and maintained favorable clinical outcomes in both the short and long fusion groups despite a slight decrease in the SVA and a high complication rate. The data suggest that the loss of sagittal balance may be attributed to increase global and junctional kyphosis in short fusion groups, and should be monitored for long-term outcomes. Particular attention should be paid to the long-term deterioration of the SVA in adults who present with fixed sagittal imbalance after PSO. Copyright © 2013 Scoliosis Research Society. Published by Elsevier Inc. All rights reserved.

  2. Knee joint passive stiffness and moment in sagittal and frontal planes markedly increase with compression.

    Science.gov (United States)

    Marouane, H; Shirazi-Adl, A; Adouni, M

    2015-01-01

    Knee joints are subject to large compression forces in daily activities. Due to artefact moments and instability under large compression loads, biomechanical studies impose additional constraints to circumvent the compression position-dependency in response. To quantify the effect of compression on passive knee moment resistance and stiffness, two validated finite element models of the tibiofemoral (TF) joint, one refined with depth-dependent fibril-reinforced cartilage and the other less refined with homogeneous isotropic cartilage, are used. The unconstrained TF joint response in sagittal and frontal planes is investigated at different flexion angles (0°, 15°, 30° and 45°) up to 1800 N compression preloads. The compression is applied at a novel joint mechanical balance point (MBP) identified as a point at which the compression does not cause any coupled rotations in sagittal and frontal planes. The MBP of the unconstrained joint is located at the lateral plateau in small compressions and shifts medially towards the inter-compartmental area at larger compression forces. The compression force substantially increases the joint moment-bearing capacities and instantaneous angular rigidities in both frontal and sagittal planes. The varus-valgus laxities diminish with compression preloads despite concomitant substantial reductions in collateral ligament forces. While the angular rigidity would enhance the joint stability, the augmented passive moment resistance under compression preloads plays a role in supporting external moments and should as such be considered in the knee joint musculoskeletal models.

  3. Sectional anatomy of the fetal brain in uterus at term on the sagittal plane

    Directory of Open Access Journals (Sweden)

    Fan-Zhen Kong

    2011-06-01

    Conclusion: Through the comparison study between sagittal sections and corresponding MRI of fetal brain at term, we could obtain morphological anatomic structures and MRI of fetal brain, providing morphological demonstration of the intrauterine development of fetal brain and auxiliary diagnosis of ultrasound and MRI in pregnant woman.

  4. Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J.; Carlson, Jenna C.; Shaffer, John R.

    2017-01-01

    Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have h...

  5. Effect of Long Term Oral Warfarin Sodium Treatment on Bone Mineral Density Scores and Spinal Sagittal Alignment

    Directory of Open Access Journals (Sweden)

    Kamil Eyvazov

    2016-04-01

    Full Text Available Objective: The aim of this study was to investigate the effect of long term oral warfarin sodium treatment on bone mineral density (BMD and spinal sagittal alignment. Materials and Methods: Sixty four participants were enrolled for this retrospective study. Participants were divided into two groups-participants who had taken warfarin sodium for at least two years (n=33 and participants who had never taken warfarin sodium (n=31. All of the individuals were evaluated at the same center. Dual X-ray absorptiometry (DXA was used for measuring BMD. Whole spine x-rays were obtained for sagittal assessment and the following parameters were measured: Cervical lordosis, thoracic kyphosis, lumbar lordosis, pelvic incidence, pelvic tilt, sacral slope and sagittal vertical axis (SVA. Results: The mean BMD value was significantly higher in participants who had not taken warfarin sodium compared to participants who had taken warfarin sodium. The differences between the average values were 0.1552 g/cm2 in BMD; 2.1 in T scores; 1.4 in Z scores. On the radiological evaluation of the spine, cervical lordosis was 7.1 degrees lower, lumbar lordosis was 4.7 degrees lower and thoracic kyphosis was 5.3 degrees higher in the patients using drug. C7 plumb line was interchanged forward in the patients using drug. Conclusions: This study shows that warfarin sodium use worsens bone quality in the lumbar region and does not affect bone quality in the femoral region. Furthermore, warfarin sodium use also reduces physiological lordosis and enhances thoracic kyphosis. Consequences of these changes are the likely cause of sagittal spinal anterior imbalance. Long-term oral warfarin sodium use affect bone mineral density and spinal alignment. Our conclusion about giving clear message and show exactly mechanism we need prospective randomized multicentre studies in future. We strongly believe this study will be pioneer for future researches.

  6. 1975 Memorial Award Paper. Image generation and display techniques for CT scan data. Thin transverse and reconstructed coronal and sagittal planes.

    Science.gov (United States)

    Glenn, W V; Johnston, R J; Morton, P E; Dwyer, S J

    1975-01-01

    The various limitations to computerized axial tomographic (CT) interpretation are due in part to the 8-13 mm standard tissue plane thickness and in part to the absence of alternative planes of view, such as coronal or sagittal images. This paper describes a method for gathering multiple overlapped 8 mm transverse sections, subjecting these data to a deconvolution process, and then displaying thin (1 mm) transverse as well as reconstructed coronal and sagittal CT images. Verification of the deconvolution technique with phantom experiments is described. Application of the phantom results to human post mortem CT scan data illustrates this method's faithful reconstruction of coronal and sagittal tissue densities when correlated with actual specimen photographs of a sectioned brain. A special CT procedure, limited basal overlap scanning, is proposed for use on current first generation CT scanners without hardware modification.

  7. Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico.

    Science.gov (United States)

    Corona-Rivera, Jorge Román; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Peña-Padilla, Christian; Olvera-Molina, Sandra; Orozco-Martín, Miriam A; García-Cruz, Diana; Ríos-Flores, Izabel M; Gómez-Rodríguez, Brian Gabriel; Rivas-Soto, Gemma; Pérez-Molina, J Jesús

    2018-02-19

    We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during the period 2009-2016 at the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case-control study was conducted among 420 newborns, including only those 105 patients with nonsyndromic cleft lip with or without cleft palate (cases), and 315 infants without birth defects (controls). Data were analyzed using multivariable logistic regression analysis expressed as adjusted odds ratio with 95% confidence intervals . The overall prevalence for typical orofacial clefts was 28 per 10,000 (95% confidence interval: 24.3-31.6), or 1 per 358 live births. The mean values for the prepregnancy weight, antepartum weight, and pre-pregnancy body mass index were statistically higher among the mothers of cases. Infants with nonsyndromic cleft lip with or without cleft palate had a significantly higher risk for previous history of any type of congenital anomaly (adjusted odds ratio: 2.7; 95% confidence interval: 1.4-5.1), history of a relative with cleft lip with or without cleft palate (adjusted odds ratio: 19.6; 95% confidence interval: 8.2-47.1), and first-trimester exposures to progestogens (adjusted odds ratio: 6.8; 95% CI 1.8-25.3), hyperthermia (adjusted odds ratio: 3.4; 95% confidence interval: 1.1-10.6), and common cold (adjusted odds ratio: 3.6; 95% confidence interval: 1.1-11.9). These risks could have contributed to explain the high prevalence of orofacial clefts in our region of Mexico, emphasizing that except for history of relatives with cleft lip with or without cleft palate, most are susceptible of modification. © 2018 Japanese Teratology Society.

  8. The influence of heel height on sagittal plane knee kinematics during landing tasks in recreationally active and athletic collegiate females.

    Science.gov (United States)

    Lindenberg, Kelly M; Carcia, Christopher R; Phelps, Amy L; Martin, Robroy L; Burrows, Anne M

    2011-09-01

    To determine if heel height alters sagittal plane knee kinematics when landing from a forward hop or drop landing. Knee angles close to extension during landing are theorized to increase ACL injury risk in female athletes. Fifty collegiate females performed two single-limb landing tasks while wearing heel lifts of three different sizes (0, 12 & 24 mm) attached to the bottom of a sneaker. Using an electrogoniometer, sagittal plane kinematics (initial contact [KA(IC)], peak flexion [KA(Peak)], and rate of excursion [RE]) were examined. Repeated measures ANOVAs were used to determine the influence of heel height on the dependent measures. Forward hop task- KA(IC) with 0 mm, 12 mm, and 24 mm lifts were 8.88±6.5, 9.38±5.8 and 11.28±7.0, respectively. Significant differences were noted between 0 and 24 mm lift (psneaker significantly alters sagittal plane knee kinematics upon landing from a unilateral forward hop but not from a drop jump.

  9. Clinical and radiological outcomes after treatment of sagittal fracture of mandibular condyle (SFMC) by using occlusal splint in children.

    Science.gov (United States)

    Liu, Chang-Kui; Meng, Fan-Wen; Tan, Xin-Ying; Xu, Juan; Liu, Hua-Wei; Liu, San-Xia; Huang, Hai-Tao; Yan, Rong-Zeng; Hu, Min; Hu, Kai-Jin

    2014-02-01

    This study was designed to investigate the effects of occlusal splints in the treatment of sagittal fractures of the mandibular condyle in children. From January 1995 to December 2011, 37 sagittal fractures of the mandibular condyle in 30 patients aged 4-8 years old were included in this study. All the patients were treated with 1-2mm occlusal splints in the molar region. The mouths of the patients were kept slightly open by the occlusal splints for 3-6 months, and we reviewed the clinical and radiological remodelling of the affected condyles after treatment. Excellent (n=20) and good (n=10) clinical outcomes were achieved with full radiological remodelling seen in 19 and partial remodelling in 11. Treatment with occlusal splints is effective in delivering good results and function with minimal morbidity in children with sagittal fractures of the condyle, while permitting ongoing remodelling and growth in the short term. Copyright © 2013 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  10. Sagittal MR findings of L5 spondylolysis : changes of spinal canal

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    Kim, Hyun Cheol; Choi, Woo Suk; Kim, Eui Jong; Ryu, Kyung Nam; Oh, Joo Hyeong; Kim, Ihn Sub; Yoon, Yup [Kyunghee Univ. Hospital, Seoul (Korea, Republic of)

    1997-07-01

    To evaluate changes in the spinal canal in cases of L5 spondylolysis, as seen on sagittal MR images. We retrospectively analysed the MR findings of 27 patients suffering from L5 spondylolysis without spondylolisthesis and compared them with 100 control subjects. Spondylolysis had been confirmed by conventional radiography. On midsagittal MR images, sagittal canal ratio (SCR) was defined as midsagittal canal diameter at L5 devided by that at L1. We analysed the frequency of posterior epidural fat deposition(posterior epidural fat between the posterior margin of the dural sac and the anterior cortical margin of the spinous process on the midsagittal line), and compared this with the frequency in 100 control subjects. Mean SCR value in 27 patients with L5 spondylolysis(1.22) was significantly greater than 100 control subjects(0.96, p<0.001). Mean SCR value in 17 patients with L5 spondylolysis and posterior epidural fat deposition(1.27) was significantly higher than in nine control subjects with posterior epidural fat deposition(0.97). Posterior epidural fat deposition was more frequently indentified in patients with L5 spondylolysis(63%) than in control subjects(9%). The possibility of L5 spondylolysis is suggested when on midsaggital MR imaging, the anteroposterior diameter of the L5 spinal canal is seen to be widened and posterior epidural fat deposition is noted.

  11. Sagittal MR findings of L5 spondylolysis : changes of spinal canal

    International Nuclear Information System (INIS)

    Kim, Hyun Cheol; Choi, Woo Suk; Kim, Eui Jong; Ryu, Kyung Nam; Oh, Joo Hyeong; Kim, Ihn Sub; Yoon, Yup

    1997-01-01

    To evaluate changes in the spinal canal in cases of L5 spondylolysis, as seen on sagittal MR images. We retrospectively analysed the MR findings of 27 patients suffering from L5 spondylolysis without spondylolisthesis and compared them with 100 control subjects. Spondylolysis had been confirmed by conventional radiography. On midsagittal MR images, sagittal canal ratio (SCR) was defined as midsagittal canal diameter at L5 devided by that at L1. We analysed the frequency of posterior epidural fat deposition(posterior epidural fat between the posterior margin of the dural sac and the anterior cortical margin of the spinous process on the midsagittal line), and compared this with the frequency in 100 control subjects. Mean SCR value in 27 patients with L5 spondylolysis(1.22) was significantly greater than 100 control subjects(0.96, p<0.001). Mean SCR value in 17 patients with L5 spondylolysis and posterior epidural fat deposition(1.27) was significantly higher than in nine control subjects with posterior epidural fat deposition(0.97). Posterior epidural fat deposition was more frequently indentified in patients with L5 spondylolysis(63%) than in control subjects(9%). The possibility of L5 spondylolysis is suggested when on midsaggital MR imaging, the anteroposterior diameter of the L5 spinal canal is seen to be widened and posterior epidural fat deposition is noted

  12. Preliminary results of anterior lumbar interbody fusion, anterior column realignment for the treatment of sagittal malalignment.

    Science.gov (United States)

    Hosseini, Pooria; Mundis, Gregory M; Eastlack, Robert K; Bagheri, Ramin; Vargas, Enrique; Tran, Stacie; Akbarnia, Behrooz A

    2017-12-01

    OBJECTIVE Sagittal malalignment decreases patients' quality of life and may require surgical correction to achieve realignment goals. High-risk posterior-based osteotomy techniques are the current standard treatment for addressing sagittal malalignment. More recently, anterior lumbar interbody fusion, anterior column realignment (ALIF ACR) has been introduced as an alternative for correction of sagittal deformity. The objective of this paper was to report clinical and radiographic results for patients treated using the ALIF-ACR technique. METHODS A retrospective study of 39 patients treated with ALIF ACR was performed. Patient demographics, operative details, radiographic parameters, neurological assessments, outcome measures, and preoperative, postoperative, and mean 1-year follow-up complications were studied. RESULTS The patient population comprised 39 patients (27 females and 12 males) with a mean follow-up of 13.3 ± 4.7 months, mean age of 66.1 ± 11.6 years, and mean body mass index of 27.3 ± 6.2 kg/m 2 . The mean number of ALIF levels treated was 1.5 ± 0.5. Thirty-three (84.6%) of 39 patients underwent posterior spinal fixation and 33 (84.6%) of 39 underwent posterior column osteotomy, of which 20 (60.6%) of 33 procedures were performed at the level of the ALIF ACR. Pelvic tilt, sacral slope, and pelvic incidence were not statistically significantly different between the preoperative and postoperative periods and between the preoperative and 1-year follow-up periods (except for PT between the preoperative and 1-year follow-up, p = 0.018). Sagittal vertical axis, T-1 spinopelvic inclination, lumbar lordosis, pelvic incidence-lumbar lordosis mismatch, intradiscal angle, and motion segment angle all improved from the preoperative to postoperative period and the preoperative to 1-year follow-up (p < 0.05). The changes in motion segment angle and intradiscal angle achieved in the ALIF-ACR group without osteotomy compared with the ALIF-ACR group with osteotomy

  13. A Survey of Orthodontic Treatment in Team Care for Patients With Syndromic Craniosynostosis in Japan.

    Science.gov (United States)

    Susami, Takafumi; Fukawa, Toshihiko; Miyazaki, Haruyo; Sakamoto, Teruo; Morishita, Tadashi; Sato, Yoshiaki; Kinno, Yoshiaki; Kurata, Kazuyuki; Watanabe, Keiichiro; Asahito, Toshikazu; Saito, Isao

    2018-04-01

    To understand the actual condition of orthodontic treatment in team care for patients with syndromic craniosynostosis (SCS) in Japan. A nationwide collaborative survey. Twenty-four orthodontic clinics in Japan. A total of 246 patients with SCS. Treatment history was examined based on orthodontic records using common survey sheets. Most patients first visited the orthodontic clinic in the deciduous or mixed dentition phase. Midface advancement was performed without visiting the orthodontic clinic in about a quarter of the patients, and more than a half of the patients underwent "surgery-first" midface advancement. First-phase orthodontic treatment was carried out in about a half of the patients, and maxillary expansion and protraction were performed. Tooth extraction was required in about two-thirds of patients, and the extraction of maxillary teeth was required in most patients. Tooth abnormalities were found in 37.8% of patients, and abnormalities of maxillary molars were frequently (58.3%) found in patients who had undergone midface surgery below the age of 6 years. Many patients underwent "surgery-first" midface advancement, and visiting the orthodontic clinic at least before advancement was considered desirable. First-phase orthodontic treatment should be performed considering the burden of care. Midface advancement below the age of 6 years had a high risk of injury to the maxillary molars. This survey is considered useful for improving orthodontic treatment in team care of patients with SCS.

  14. A Proposal of New Reference System for the Standard Axial, Sagittal, Coronal Planes of Brain Based on the Serially-Sectioned Images

    Science.gov (United States)

    Park, Jin Seo; Park, Hyo Seok; Shin, Dong Sun; Har, Dong-Hwan; Cho, Zang-Hee; Kim, Young-Bo; Han, Jae-Yong; Chi, Je-Geun

    2010-01-01

    Sectional anatomy of human brain is useful to examine the diseased brain as well as normal brain. However, intracerebral reference points for the axial, sagittal, and coronal planes of brain have not been standardized in anatomical sections or radiological images. We made 2,343 serially-sectioned images of a cadaver head with 0.1 mm intervals, 0.1 mm pixel size, and 48 bit color and obtained axial, sagittal, and coronal images based on the proposed reference system. This reference system consists of one principal reference point and two ancillary reference points. The two ancillary reference points are the anterior commissure and the posterior commissure. And the principal reference point is the midpoint of two ancillary reference points. It resides in the center of whole brain. From the principal reference point, Cartesian coordinate of x, y, z could be made to be the standard axial, sagittal, and coronal planes. PMID:20052359

  15. Validity of a smartphone protractor to measure sagittal parameters in adult spinal deformity.

    Science.gov (United States)

    Kunkle, William Aaron; Madden, Michael; Potts, Shannon; Fogelson, Jeremy; Hershman, Stuart

    2017-10-01

    Smartphones have become an integral tool in the daily life of health-care professionals (Franko 2011). Their ease of use and wide availability often make smartphones the first tool surgeons use to perform measurements. This technique has been validated for certain orthopedic pathologies (Shaw 2012; Quek 2014; Milanese 2014; Milani 2014), but never to assess sagittal parameters in adult spinal deformity (ASD). This study was designed to assess the validity, reproducibility, precision, and efficiency of using a smartphone protractor application to measure sagittal parameters commonly measured in ASD assessment and surgical planning. This study aimed to (1) determine the validity of smartphone protractor applications, (2) determine the intra- and interobserver reliability of smartphone protractor applications when used to measure sagittal parameters in ASD, (3) determine the efficiency of using a smartphone protractor application to measure sagittal parameters, and (4) elucidate whether a physician's level of experience impacts the reliability or validity of using a smartphone protractor application to measure sagittal parameters in ASD. An experimental validation study was carried out. Thirty standard 36″ standing lateral radiographs were examined. Three separate measurements were performed using a marker and protractor; then at a separate time point, three separate measurements were performed using a smartphone protractor application for all 30 radiographs. The first 10 radiographs were then re-measured two more times, for a total of three measurements from both the smartphone protractor and marker and protractor. The parameters included lumbar lordosis, pelvic incidence, and pelvic tilt. Three raters performed all measurements-a junior level orthopedic resident, a senior level orthopedic resident, and a fellowship-trained spinal deformity surgeon. All data, including the time to perform the measurements, were recorded, and statistical analysis was performed to

  16. Early Outcomes of Minimally Invasive Anterior Longitudinal Ligament Release for Correction of Sagittal Imbalance in Patients with Adult Spinal Deformity

    Directory of Open Access Journals (Sweden)

    Armen R. Deukmedjian

    2012-01-01

    Full Text Available The object of this study was to evaluate a novel surgical technique in the treatment of adult degenerative scoliosis and present our early experience with the minimally invasive lateral approach for anterior longitudinal ligament release to provide lumbar lordosis and examine its impact on sagittal balance. Methods. All patients with adult spinal deformity (ASD treated with the minimally invasive lateral retroperitoneal transpsoas interbody fusion (MIS LIF for release of the anterior longitudinal ligament were examined. Patient demographics, clinical data, spinopelvic parameters, and outcome measures were recorded. Results. Seven patients underwent release of the anterior longitudinal ligament (ALR to improve sagittal imbalance. All cases were split into anterior and posterior stages, with mean estimated blood loss of 125 cc and 530 cc, respectively. Average hospital stay was 8.3 days, and mean follow-up time was 9.1 months. Comparing pre- and postoperative 36′′ standing X-rays, the authors discovered a mean increase in global lumbar lordosis of 24 degrees, increase in segmental lumbar lordosis of 17 degrees per level of ALL released, decrease in pelvic tilt of 7 degrees, and decrease in sagittal vertical axis of 4.9 cm. At the last followup, there was a mean improvement in VAS and ODI scores of 26.2% and 18.3%. Conclusions. In the authors’ early experience, release of the anterior longitudinal ligament using the minimally invasive lateral retroperitoneal transpsoas approach may be a feasible alternative in correcting sagittal deformity.

  17. How is sagittal balance acquired during bipedal gait acquisition? Comparison of neonatal and adult pelves in three dimensions. Evolutionary implications.

    Science.gov (United States)

    Tardieu, Christine; Bonneau, Noémie; Hecquet, Jérôme; Boulay, Christophe; Marty, Catherine; Legaye, Jean; Duval-Beaupère, Geneviève

    2013-08-01

    We compare adult and intact neonatal pelves, using a pelvic sagittal variable, the angle of sacral incidence, which presents significant correlations with vertebral curvature in adults and plays an important role in sagittal balance of the trunk on the lower limbs. Since the lumbar curvature develops in the child in association with gait acquisition, we expect a change in this angle during growth which could contribute to the acquisition of sagittal balance. To understand the mechanisms underlying the sagittal balance in the evolution of human bipedalism, we also measure the angle of incidence of hominid fossils. Fourty-seven landmarks were digitized on 50 adult and 19 intact neonatal pelves. We used a three-dimensional model of the pelvis (DE-VISU program) which calculates the angle of sacral incidence and related functional variables. Cross-sectional data from newborns and adults show that the angle of sacral incidence increases and becomes negatively correlated with the sacro-acetabular distance. During ontogeny the sacrum becomes curved, tends to sink down between the iliac blades as a wedge and moves backward in the sagittal plane relative to the acetabula, thus contributing to the backwards displacement of the center of gravity of the trunk. A chain of correlations links the degree of the sacral slope and of the angle of incidence, which is tightly linked with the lumbar lordosis. We sketch a model showing the coordinated changes occurring in the pelvis and vertebral column during the acquisition of bipedalism in infancy. In the australopithecine pelves, Sts 14 and AL 288-1, and in the Homo erectus Gona pelvis the angle of sacral incidence reaches the mean values of humans. Discussing the incomplete pelves of Ardipithecus ramidus, Australopithecus sediba and the Nariokotome Boy, we suggest how the functional linkage between pelvis and spine, observed in humans, could have emerged during hominid evolution. Copyright © 2013 Elsevier Ltd. All rights reserved.

  18. Non-syndromic sensorineural prelingual deafness: the importance of genetic counseling in demystifying parents' beliefs about the cause of their children's deafness.

    Science.gov (United States)

    Rodrigues, Fidjy; Paneque, Milena; Reis, Cláudia; Venâncio, Margarida; Sequeiros, Jorge; Saraiva, Jorge

    2013-08-01

    Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a clinical genetics service in order to clarify the etiology of the deafness and to provide genetic counseling. Consequently, there are no published studies of the prior beliefs of parents about the causes of hereditary deafness of their children and their genetic knowledge after receipt of genetic counseling. In order to evaluate the impact of genetic counseling, 44 parents of 24 children with the diagnosis of non-syndromic sensorineural prelingual deafness due to mutations in the GJB2 (connexin 26), completed surveys before and after genetic counseling. Before counseling 13.6 % of the parents knew the cause of deafness; at a post-counseling setting this percentage was significantly higher, with 84.1 % of the parents accurately identifying the etiology. No significant differences were found between the answers of mothers and fathers either before or after genetic counseling. Parents' level of education was a significant factor in pre-test knowledge. After genetic counseling 95.5 % of the parents stated that the consultation had met their expectations, 70.5 % remembered correctly the inheritance pattern, and 93.2 % correctly recalled the chance of risk of deafness. These results underline the importance of genetic counseling in demystifying parents' beliefs about the etiology of their children's deafness.

  19. [Application of temporomandibular joint dics reduction in the operation of condylar sagittal fracture].

    Science.gov (United States)

    Wenli, Zeng; Wuchao, Zhou; Jingkun, Zhang; Yisen, Shao; Weihong, Xi

    2017-10-01

    To explore the selection of temporomandibular joint (TMJ) disc reduction and fixation methods in condylar sagittal fracture surgery. A total of 36 patients with condylar fractures were chosen. The follow-up period was more 6 months. All 36 cases of condylar sagittal fracture were fixed with long screw. In the operation, the displaced joint disc was repositioned and fixed. The fixed method included direct suture (22 cases) and anchorage (14 cases). Clinical followups were performed before surgery and 1 month, 3 months, 6 months and 1 year after surgery. Clinicians recorded data related to the Fricton craniomandibular index (CMI) and evaluated the postoperative joint function during followup before surgery and 6 months after surgery. In both groups, function of TMJ significantly improved after surgery. The CMI decreased from 0.213±0.162 and 0.273±0.154 to 0.059±0.072 and 0.064±0.068 (P0.05) before or after surgery. Both methods could effectively improve the dysfunction of the TMJ caused by trauma. The selection of joint disc reduction and fixation methods is based on the displacement and damage degree of the joint disc.

  20. The role of hyperthyroidism as the predisposing factor for superior sagittal sinus thrombosis.

    Science.gov (United States)

    Hwang, Jong-Uk; Kwon, Ki-Young; Hur, Jin-Woo; Lee, Jong-Won; Lee, Hyun-Koo

    2012-09-01

    Superior sagittal sinus thrombosis (SSST) is an uncommon cause of stroke, whose symptoms and clinical course are highly variable. It is frequently associated with a variety of hypercoagulable states. Coagulation abnormalities are commonly seen in patients with hyperthyroidism. To the best of our knowledge, there are few reports on the association between hyperthyroidism and cerebral venous thrombosis. We report on a 31-year-old male patient with a six-year history of hyperthyroidism who developed seizure and mental deterioration. Findings on brain computed tomography (CT) showed multiple hemorrhages in the subcortical area of both middle frontal gyrus and cerebral digital subtraction angiography (DSA) showed irregular intra-luminal filling defects of the superior sagittal sinus. These findings were consistent with hemorrhagic transformation of SSST. Findings on clinical laboratory tests were consistent with hyperthyroidism. In addition, our patient also showed high activity of factors IX and XI. The patient received treatment with oral anticoagulant and prophylthiouracil. His symptoms showed complete improvement. A follow-up cerebral angiography four weeks after treatment showed a recanalization of the SSS. In conclusion, findings of our case indicate that hypercoagulability may contribute to development of SSST in a patient with hyperthyroidism.

  1. Sagittal spinal balance after lumbar spinal fusion: the impact of anterior column support results from a randomized clinical trial with an eight- to thirteen-year radiographic follow-up.

    Science.gov (United States)

    Videbaek, Tina S; Bünger, Cody E; Henriksen, Mads; Neils, Egund; Christensen, Finn B

    2011-02-01

    Randomized clinical trial. To analyze the long-term clinical impact of anterior column support on sagittal balance after lumbar spinal fusion. Several investigators have stressed the importance of maintaining sagittal balance in relation to spinal fusion to avoid lumbar 'flat back,' accelerated adjacent segment degeneration, pain, and inferior functional outcome. Only limited evidence exists on how sagittal alignment affects clinical outcome. Anterior lumbar interbody fusion combined with posterolateral fusion has been proved superior to posterolateral fusion alone regarding outcome and cost-effectiveness. No randomized controlled trial has been published analyzing the effect of anterior support on radiographic measurements of sagittal balance. Between 1996 and 1999, 148 patients with severe chronic low back pain were randomly selected for posterolateral lumbar fusion plus anterior support (PLF + ALIF) or posterolateral lumbar fusion. A total of 92 patients participated. Sagittal balance parameters were examined on full lateral radiographs of the spine: pelvic incidence (PI), pelvic tilt (PT), sacral slope, thoracic kyphosis, lumbar lordosis, and positioning of C7 plumb line. The type of lumbar lordosis was evaluated and outcome assessed by Oswestry Disability Index (ODI). Follow-up rate was 74%. Sagittal balance parameters were similar between randomization groups. None of the parameters differed significantly between patients with an ODI from 0 to 40 and patients with ODI over 40. Balanced patients had a significantly superior outcome as measured by ODI (P Lumbar lordosis and type of lordosis correlated with outcome but could not explain the superior outcome in the group with anterior support. Whether sagittal balance and anterior support during fusion provide a protective effect on adjacent motion segments remains unclear.

  2. Nonsyndromic Synchronous Multifocal Central Giant Cell Granulomas of the Maxillofacial Region: Report of a Case.

    Directory of Open Access Journals (Sweden)

    Anita Munde

    2015-04-01

    Full Text Available Central giant cell granuloma (CGCG is a benign proliferation of fibroblasts and multinucleated giant cells that almost exclusively occurs in the jaws. It commonly occurs in young adults showing a female predilection in the anterior mandible. Multifocal CGCGs in maxillofacial region are very rare and suggestive of systemic diseases such as hyperparathyroidism, an inherited syndrome such as Noonan-like multiple giant cell lesion syndrome or other disorders. Only 10 cases of multifocal CGCGs in the maxillofacial region without any concomitant systemic disease have been reported in the English literature. Here, we report an unusual case of 36 year-old female presented with non-syndromic synchronous, multifocal CGCGs in the left posterior mandible and left posterior maxilla without any concomitant systemic disease. Relevant literature is reviewed and the incidence, clinical features, radiological features, differential diagnosis and management of CGCGs are discussed.

  3. Sagittal alignment of the cervical spine in adolescent idiopathic scoliosis treated by posteromedial translation.

    Science.gov (United States)

    Ilharreborde, Brice; Vidal, Christophe; Skalli, Wafa; Mazda, Keyvan

    2013-02-01

    To analyze postoperative changes in the cervical sagittal alignment (CSA) of patients with AIS treated by posteromedial translation. 49 patients with thoracic AIS underwent posterior arthrodesis with hybrid constructs, combining lumbar pedicle screws and thoracic universal clamps. Posteromedial translation was the main correction technique used. 3D radiological parameters were measured from low-dose biplanar radiographs. CSA was assessed using the C2C6 angle, and the central hip vertical axis (CHVA) was used as a reference axis to evaluate patients' balance. Preoperatively, 58 % of patients had thoracic hypokyphosis, and 79 % had a kyphotic CSA. Significant correlation was found (r = 0.45, P = 0.01) between thoracic hypokyphosis and cervical kyphosis. Increase in T4-T12 thoracic kyphosis (average 14.5° ± 10°) was associated with significant decrease in cervical kyphosis in the early postoperative period. The CSA further improved spontaneously during follow-up by 7.6° (P < 0.0001). Significant positive correlation (r = 0.32, P = 0.03) was found between thoracic and cervical improvements. At latest follow-up, 94 % of the patients were normokyphotic and 67 % had a CSA in the physiological range. Sagittal balance of the thoracolumbar spine was not significantly modified postoperatively. However, the procedure significantly changed the position of C2 in regard to the CHVA (C2-CHVA), which reflects headposition (P = 0.012). At last follow-up, the patients sagittal imbalance was not significantly different from the preoperative imbalance (P = 0.34). Thoracic hypokyphosis and cervical hypolordosis, observed in AIS, can be improved postoperatively, when the posteromedial translation technique is used for correction. The cervical spine remains adaptable in most patients, but the proportion of patients with physiological cervical lordosis at final follow-up remained low (24.5 %).

  4. Overcorrection of lumbar lordosis for adult spinal deformity with sagittal imbalance: comparison of radiographic outcomes between overcorrection and undercorrection.

    Science.gov (United States)

    Lee, Jung-Hee; Kim, Ki-Tack; Lee, Sang-Hun; Kang, Kyung-Chung; Oh, Hyun-Seok; Kim, Young-Jun; Jung, Hyuk

    2016-08-01

    To determine the correlation of the difference between postoperative lumbar lordosis (LL) and ideal LL with the sagittal vertical axis (SVA) at the final follow-up in patients with adult spinal deformity (ASD). Fifty-one patients with degenerative lumbar kyphosis (DLK) (mean age 66.5 years) who underwent surgical correction with a minimum 2-year follow-up were evaluated. Based on the difference between postoperative LL and ideal LL using the Korean version of Legaye's formula, we divided the 51 patients into two groups: overcorrection (degree of postoperative LL > ideal LL) and undercorrection (degree of postoperative LL < ideal LL). Our clinical series of patients comprised 24 in the overcorrection and 27 in the undercorrection group. No significant differences were found in preoperative pelvic incidence (PI 52.6° vs. 57.3°), sacral slope (SS 23.3° vs. 18.3°), LL (-6.9° vs. -2.3°), thoracic kyphosis (TK 4.7° vs. 4.9°) and SVA (140 vs. 139 mm) except pelvic tilt (PT 29.4° vs. 39.0°), between the two groups. All the patients in the overcorrection group and 16 in the undercorrection group achieved postoperative optimal sagittal balance based on SVA ≤ 50 mm. In addition, significant differences in PT (10.5° vs. 26.7°), SS (42.1° vs. 30.6°), LL (-64.3° vs. -37.1°), TK (22.6° vs. 15.8°), and SVA (-1 vs. 41 mm) between the two groups were observed postoperatively. Furthermore, four patients (16.7 %) in the overcorrection group and eight (50 %) in the undercorrection group had sagittal decompensation at the final follow-up. Our results showed that the difference between postoperative LL and ideal LL had a significant correlation with postoperative and final follow-up SVA in our clinical series. Overcorrection of LL is an effective treatment modality to maintain optimal sagittal alignment in patients with DLK; this suggests that it should be considered in preoperative planning for patients with ASD with sagittal imbalance.

  5. Visibility of mandibular canal on panoramic radiograph after bilateral sagittal split osteotomy (BSSO).

    OpenAIRE

    Politis, Constantinus; Ramirez, Xiomara Botero; Sun, Yi; Lambrichts, Ivo; Heath, Neil; Agbaje, Jimoh Olubanwo

    2013-01-01

    PURPOSE: This study aimed to assess the visibility of the mandibular canal (MC) on panoramic radiographs after bilateral sagittal split osteotomy (BSSO), and to investigate what factors affect this MC visibility. METHODS: We assessed MC visibility on panoramic radiographs of 200 BSSO patients. Images were acquired preoperatively (T0), immediately postoperatively (T1), 6 months postoperatively (T2), and 1 year postoperatively (T3), from three diffe...

  6. Factors influencing spinal sagittal balance, bone mineral density, and Oswestry Disability Index outcome measures in patients with rheumatoid arthritis.

    Science.gov (United States)

    Masamoto, Kazutaka; Otsuki, Bungo; Fujibayashi, Shunsuke; Shima, Koichiro; Ito, Hiromu; Furu, Moritoshi; Hashimoto, Motomu; Tanaka, Masao; Lyman, Stephen; Yoshitomi, Hiroyuki; Tanida, Shimei; Mimori, Tsuneyo; Matsuda, Shuichi

    2018-02-01

    To identify the factors influencing spinal sagittal alignment, bone mineral density (BMD), and Oswestry Disability Index (ODI) outcome measures in patients with rheumatoid arthritis (RA). We enrolled 272 RA patients to identify the factors influencing sagittal vertical axis (SVA). Out of this, 220 had evaluation of bone mineral density (BMD) and vertebral deformity (VD) on the sagittal plane; 183 completed the ODI questionnaire. We collected data regarding RA-associated clinical parameters and standing lateral X-ray images via an ODI questionnaire from April to December 2012 at a single center. Patients with a history of spinal surgery or any missing clinical data were excluded. Clinical parameters included age, sex, body mass index, RA disease duration, disease activity score 28 erythrocyte sedimentation rate (DAS28-ESR), serum anti-cyclic citrullinated peptide antibody, serum rheumatoid factor, serum matrix metalloproteinase-3, BMD and treatment type at survey, such as methotrexate (MTX), biological disease-modifying anti-rheumatic drugs, and glucocorticoids. We measured radiological parameters including pelvic incidence (PI), lumbar lordosis (LL), and SVA. We statistically identified the factors influencing SVA, BMD, VD, and ODI using multivariate regression analysis. Multivariate regression analysis showed that larger SVA correlated with older age, higher DAS28-ESR, MTX nonuse, and glucocorticoid use. Lower BMD was associated with female, older age, higher DAS28-ESR, and MTX nonuse. VD was associated with older age, longer disease duration, lower BMD, and glucocorticoid use. Worse ODI correlated with older age, larger PI-LL mismatch or larger SVA, higher DAS28-ESR, and glucocorticoid use. In managing low back pain and spinal sagittal alignment in RA patients, RA-related clinical factors and the treatment type should be taken into consideration.

  7. Cost of treating sagittal synostosis in the first year of life.

    Science.gov (United States)

    Abbott, Megan M; Rogers, Gary F; Proctor, Mark R; Busa, Kathleen; Meara, John G

    2012-01-01

    Endoscopically assisted suturectomy (EAS) has been reported to reduce the morbidity and cost of treating sagittal synostosis when compared with traditional open cranial vault remodeling (CVR) procedures. Whereas the former claim is well substantiated and intuitive, the latter has not been validated by rigorous cost analysis. Patient medical records and financial database reports were culled retrospectively to determine the total cost associated with both EAS and CVR during 1 year of care. Recorded cost data included physician and hospital services, orthotic equipment and fittings, and indirect patient cost. Ten patients treated with CVR were compared with 10 patients who underwent EAS. The CVR patients incurred greater costs in nearly all categories studied, including overall 1-year costs, physician services, hospital services, supplies/equipment, medications/intravenous fluids, and laboratory and blood bank services. Postoperative costs were greater in the EAS group, primarily because of the cost associated with orthotic services and indirect patient costs for travel and lost work. However, overall indirect patient costs for the whole year did not differ between the groups. One-year median costs were $55,121 for CVR and $23,377 for EAS. Early clinical results were similar for the 2 groups. Cranial vault remodeling was more costly in the first year of treatment than EAS, although indirect patient costs were similar. The favorable cost of EAS compared with CVR provides further justification to consider this procedure as first-line treatment of sagittal synostosis in young infants.

  8. The effects of the sagittal plane malpositioning of the patella and concomitant quadriceps hypotrophy on the patellofemoral joint: a finite element analysis.

    Science.gov (United States)

    Aksahin, Ertugrul; Kocadal, Onur; Aktekin, Cem N; Kaya, Defne; Pepe, Murad; Yılmaz, Serdar; Yuksel, H Yalcin; Bicimoglu, Ali

    2016-03-01

    Anterior knee pain is a common symptom after intramedullary nailing in tibia shaft fracture. Moreover, patellofemoral malalignment is also known to be a major reason for anterior knee pain. Patellofemoral malalignment predisposes to increased loading in patellar cartilage. In the previous study, we have demonstrated the quadriceps atrophy and patellofemoral malalignment after intramedullary nailing due to tibia shaft fracture. In this study, our aim was to clarify the effects of quadriceps atrophy and patellofemoral malalignment with the pathologic loading on the joint cartilage. Mesh models of patellofemoral joint were constructed with CT images and integrated with soft tissue components such as menisci and ligaments. Physiological and sagittal tilt models during extension and flexion at 15°, 30° and 60° were created generating eight models. All the models were applied with 137 N force to present the effects of normal loading and 115.7 N force for the simulation of quadriceps atrophy. Different degrees of loading were applied to evaluate the joint contact area and pressure value with the finite element analysis. There was increased patellofemoral contact area in patellar tilt models with respect to normal models. The similar loading patterns were diagnosed in all models at 0° and 15° knee flexion when 137 N force was applied. Higher loading values were obtained at 30° and 60° knee flexions in sagittal tilt models. Furthermore, in the sagittal tilt models, in which the quadriceps atrophy was simulated, the loadings at 30° and 60° knee flexion were higher than in the physiological ones. Sagittal malalignment of the patellofemoral joint is a new concept that results in different loading patterns in the patellofemoral joint biomechanics. This malalignment in sagittal plane leads to increased loading values on the patellofemoral joint at 30° and 60° of the knee flexions. This new concept should be kept in mind during the course of diagnosis and treatment

  9. The sagittal stem alignment and the stem version clearly influence the impingement-free range of motion in total hip arthroplasty: a computer model-based analysis.

    Science.gov (United States)

    Müller, Michael; Duda, Georg; Perka, Carsten; Tohtz, Stephan

    2016-03-01

    The component alignment in total hip arthroplasty influences the impingement-free range of motion (ROM). While substantiated data is available for the cup positioning, little is known about the stem alignment. Especially stem rotation and the sagittal alignment influence the position of the cone in relation to the edge of the socket and thus the impingement-free functioning. Hence, the question arises as to what influence do these parameters have on the impingement-free ROM? With the help of a computer model the influence of the sagittal stem alignment and rotation on the impingement-free ROM were investigated. The computer model was based on the CT dataset of a patient with a non-cemented THA. In the model the stem version was set at 10°/0°/-10° and the sagittal alignment at 5°/0°/-5°, which resulted in nine alternative stem positions. For each position, the maximum impingement-free ROM was investigated. Both stem version and sagittal stem alignment have a relevant influence on the impingement-free ROM. In particular, flexion and extension as well as internal and external rotation capability present evident differences. In the position intervals of 10° sagittal stem alignment and 20° stem version a difference was found of about 80° in the flexion and 50° in the extension capability. Likewise, differences were evidenced of up to 72° in the internal and up to 36° in the external rotation. The sagittal stem alignment and the stem torsion have a relevant influence on the impingement-free ROM. To clarify the causes of an impingement or accompanying problems, both parameters should be examined and, if possible, a combined assessment of these factors should be made.

  10. Bone-femoral component interface gap after sagittal mechanical axis alignment is filled with new bone after cementless total knee arthroplasty.

    Science.gov (United States)

    Kuriyama, Shinichi; Hyakuna, Katsufumi; Inoue, Satoshi; Kawai, Yasutsugu; Tamaki, Yasuyuki; Ito, Hiromu; Matsuda, Shuichi

    2018-05-01

    This study retrospectively evaluated the fate of mismatch between an uncemented femoral component and each femoral cut surface (i.e., wedge-shaped gap) relative to sagittal mechanical alignment in total knee arthroplasty (TKA). Primary TKA was performed on 99 consecutive knees. The femoral components were aligned to the sagittal mechanical axis with CT-based navigation. All patients were assessed with postoperative true lateral radiographs. Bone-side surfaces of the uncemented femoral component were divided into five zones: anterior flange, anterior chamfer, posterior chamfer, posterior part, and distal part, which were defined as zones 1 to 5, respectively. Bone filling of wedge-shaped gaps in each zone was evaluated after 1 year. Femoral anterior notching did not occur. However, wedge-shaped gaps were observed in at least one zone in 23 of 99 knees (23%), most frequently in zone 5 (18%). There were 9 and 7 gaps in zones 1 and 2, respectively. The femoral component showed malpositioning of approximately 3° of flexion in cases with wedge-shaped gaps in zones 2 and/or 5. After one year, 67% (6/9) of zone 1, 100% (7/7) of zone 2, and 94% (17/18) of zone 5 wedge-shaped gaps were filled in with new bone. Femoral alignment relative to sagittal mechanical axis caused wedge-shaped gaps due to unstable anterior bone cutting through hard bone, but the small gaps were not clinically significant and filled in within one year. Sagittal setting of the femoral component should aim for the anatomical axis rather than the mechanical axis. IV.

  11. Biomechanical analysis of the effect of occlusal force on osteosynthesis following sagittal split ramus osteotomy

    International Nuclear Information System (INIS)

    Okuda, Katsuya; Nakajima, Masahiro; Kakudo, Kenji

    2009-01-01

    Relapse is sometimes observed during the postoperative course following sagittal split ramus osteotomy which is widely used to correct jaw deformities. Relapse may be caused by biomechanical factors such as the postoperative occlusal force. We evaluated serial changes in the stress distribution associated with postoperative occlusal force and jaw-closing pressure on the mandible and osteosynthesis plate using three-dimensional finite element analysis. Based on CT data, we produced mandibular models 1, 3, 6, and 12 months after sagittal split ramus osteotomy, and subjected them to simulated occlusal force and jaw-closing pressure. Changes in equivalent stress in the proximal and distal segments, at the osteosynthesis site, and the fixation plate were evaluated by three-dimensional finite element analysis. The equivalent stresses in the proximal and distal segments slightly increased over time from 1 to 12 months after the operation. In particular, marked stress concentration was observed at the anterior border of the ramus at each measurement area. Stress at the osteosynthesis site increased from 1 to 6 months after the operation, but decreased after 12 months. As a result of postoperative occlusal forces and jaw-closing pressure, stress was concentrated at the anterior border of the ramus in the proximal segment. Between 3 and 6 months after the operation, tensile stress was concentrated at the upper and lower ends of the osteotomy line at the osteosynthesis site. These biomechanical findings indicate the application of clockwise stress on the distal segment up to 6 months after the operation. We concluded that sagittal split ramus osteotomy runs the risk of relapse between 3 and 6 months after the operation. (author)

  12. The lumbar lordosis index: a new ratio to detect spinal malalignment with a therapeutic impact for sagittal balance correction decisions in adult scoliosis surgery.

    Science.gov (United States)

    Boissière, Louis; Bourghli, Anouar; Vital, Jean-Marc; Gille, Olivier; Obeid, Ibrahim

    2013-06-01

    Sagittal malalignment is frequently observed in adult scoliosis. C7 plumb line, lumbar lordosis and pelvic tilt are the main factors to evaluate sagittal balance and the need of a vertebral osteotomy to correct it. We described a ratio: the lumbar lordosis index (ratio lumbar lordosis/pelvic incidence) (LLI) and analyzed its relationships with spinal malalignment and vertebral osteotomies. 53 consecutive patients with a surgical adult scoliosis had preoperative and postoperative full spine EOS radiographies to measure spino-pelvic parameters and LLI. The lack of lordosis was calculated after prediction of theoretical lumbar lordosis. Correlation analysis between the different parameters was performed. All parameters were correlated with spinal malalignment but LLI is the most correlated parameter (r = -0.978). It is also the best parameter in this study to predict the need of a spinal osteotomy (r = 1 if LLI <0.5). LLI is a statistically validated parameter for sagittal malalignment analysis. It can be used as a mathematical tool to detect spinal malalignment in adult scoliosis and guides the surgeon decision of realizing a vertebral osteotomy for adult scoliosis sagittal correction. It can be used as well for the interpretation of clinical series in adult scoliosis.

  13. The stability of mandibular prognathism corrected by bilateral sagittal split osteotomies: a comparison of bi-cortical osteosynthesis and mono-cortical osteosynthesis.

    Science.gov (United States)

    Hsu, S S-P; Huang, C-S; Chen, P K-T; Ko, E W-C; Chen, Y-R

    2012-02-01

    This study evaluated the differences in surgical changes and post-surgical changes between bi-cortical and mono-cortical osteosynthesis (MCO) in the correction of skeletal Class III malocclusion with bilateral sagittal split osteotomies (BSSOs). Twenty-five patients had bi-cortical osteosynthesis (BCO), 32 patients had mono-cortical fixation. Lateral and postero-anterior cephalometric radiographs, taken at the time of surgery, before surgery, 1 month after surgery, and on completion of orthodontic treatment (mean 9.9 months after surgery), were obtained for evaluation. Cephalometric analysis and superimposition were used to investigate the surgical and post-surgical changes. Independent t-test was performed to compare the difference between the two groups. Pearson's correlations were tested to evaluate the factors related to the relapse of the mandible. The sagittal relapse rate was 20% in the bi-cortical and 25% in the mono-cortical group. The forward-upward rotation of the mandible in the post-surgical period contributed most of the sagittal relapse. There were no statistically significant differences in sagittal and vertical changes between the two groups during surgery and in the post-surgical period. No factors were found to correlate with post-surgical relapse, but the intergonial width increased more in the bi-cortical group. The study suggested that both methods of skeletal fixation had similar postoperative stability. Copyright © 2011 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  14. Spino-pelvic sagittal balance of spondylolisthesis: a review and classification.

    Science.gov (United States)

    Labelle, Hubert; Mac-Thiong, Jean-Marc; Roussouly, Pierre

    2011-09-01

    In L5-S1 spondylolisthesis, it has been clearly demonstrated over the past decade that sacro-pelvic morphology is abnormal and that it can be associated to an abnormal sacro-pelvic orientation as well as to a disturbed global sagittal balance of the spine. The purpose of this article is to review the work done within the Spinal Deformity Study Group (SDSG) over the past decade, which has led to a classification incorporating this recent knowledge. The evidence presented has been derived from the analysis of the SDSG database, a multi-center radiological database of patients with L5-S1 spondylolisthesis, collected from 43 spine surgeons in North America and Europe. The classification defines 6 types of spondylolisthesis based on features that can be assessed on sagittal radiographs of the spine and pelvis: (1) grade of slip, (2) pelvic incidence, and (3) spino-pelvic alignment. A reliability study has demonstrated substantial intra- and inter-observer reliability similar to other currently used classifications for spinal deformity. Furthermore, health-related quality of life measures were found to be significantly different between the 6 types, thus supporting the value of a classification based on spino-pelvic alignment. The clinical relevance is that clinicians need to keep in mind when planning treatment that subjects with L5-S1 spondylolisthesis are a heterogeneous group with various adaptations of their posture. In the current controversy on whether high-grade deformities should or should not be reduced, it is suggested that reduction techniques should preferably be used in subjects with evidence of abnormal posture, in order to restore global spino-pelvic balance and improve the biomechanical environment for fusion.

  15. MSX ₁ gene variant and non-syndromic clefting: association or rejection?

    Science.gov (United States)

    Reddy, Naveen Admala; Gopinath, Adusumilli; Reddy, Jayaprakash Thirumala; Devanna, Raghu; Saravanan, Pichai; Rohra, Mayur G

    2014-01-01

    Non-syndromic cleft lip/palate (NSCL/P) is a congenital anomaly with significant medical, psychological and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. The aim of this study is to amplify the chosen region (799 G >T) of MSX 1 gene, investigate the degree of association and perform a mutation research from Raichur cleft lip and palate patient sample. Case history and clinical examination of the patient were recorded to rule. Written consent was obtained from patients and controls for in vivo study. STUDY WAS DESIGNED IN FOUR STEPS AS FOLLOWS: a. Collection of a blood sample; b. Genomic deoxyribonucleic acid (DNA) extraction; c. Polymerase chain reaction (PCR); d. Restriction fragment length polymorphism (RFLP). Blood samples were collected from 50 subjects having NSCL/P and 50 controls. Genomic DNA was extracted, PCR and RFLP was performed for digestion products that were evaluated. Chi-square test with P value at 95% confidence intervals. The results showed a positive correlation between MSX 1 799 G >T gene variant and NSCL/P patients in Raichur patients. From a genetically diverse etiology MSX 1 799 G >T gene variant may be a good screening marker for NSCL/P in Raichur patients.

  16. A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R

    2016-01-01

    Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental fac...

  17. Radiographic analysis of the correlation between ossification of the nuchal ligament and sagittal alignment and segmental stability of the cervical spine in patients with cervical spondylotic myelopathy.

    Science.gov (United States)

    Ying, Jinwei; Teng, Honglin; Qian, Yunfan; Hu, Yingying; Wen, Tianyong; Ruan, Dike; Zhu, Minyu

    2018-01-01

    Background Ossification of the nuchal ligament (ONL) caused by chronic injury to the nuchal ligament (NL) is very common in instability-related cervical disorders. Purpose To determine possible correlations between ONL, sagittal alignment, and segmental stability of the cervical spine. Material and Methods Seventy-three patients with cervical spondylotic myelopathy (CSM) and ONL (ONL group) and 118 patients with CSM only (control group) were recruited. Radiographic data included the characteristics of ONL, sagittal alignment and segmental stability, and ossification of the posterior longitudinal ligament (OPLL). We performed comparisons in terms of radiographic parameters between the ONL and control groups. The correlations between ONL size, cervical sagittal alignment, and segmental stability were analyzed. Multivariate logistic regression was used to identify the independent risk factors of the development of ONL. Results C2-C7 sagittal vertical axis (SVA), T1 slope (T1S), T1S minus cervical lordosis (T1S-CL) on the lateral plain, angular displacement (AD), and horizontal displacement (HD) on the dynamic radiograph increased significantly in the ONL group compared with the control group. The size of ONL significantly correlated with C2-C7 SVA, T1S, AD, and HD. The incidence of ONL was higher in patients with OPLL and segmental instability. Cervical instability, sagittal malalignment, and OPLL were independent predictors of the development of ONL through multivariate analysis. Conclusion Patients with ONL are more likely to have abnormal sagittal alignment and instability of the cervical spine. Thus, increased awareness and appreciation of this often-overlooked radiographic finding is warranted during diagnosis and treatment of instability-related cervical pathologies and injuries.

  18. Sagittal fractures of the third carpal bone in horses: 12 cases (1977-1985)

    International Nuclear Information System (INIS)

    Fischer, A.T. Jr.; Stover, S.M.

    1987-01-01

    Third carpal sagittal fractures were found to be related to racing injuries in 10 of 12 horses. These fractures occurred most commonly on the medial aspect of the bone. A dorsoproximal-dorsodistal view of the carpus was required to visualize the fracture in all cases. Healing of the fracture required periods of rest of up to one year. Conservative management of these fractures resulted in return to function in 7 of 12 horses

  19. The Role of Hyperthyroidism as the Predisposing Factor for Superior Sagittal Sinus Thrombosis

    OpenAIRE

    Hwang, Jong-Uk; Kwon, Ki-Young; Hur, Jin-Woo; Lee, Jong-Won; Lee, Hyun-Koo

    2012-01-01

    Superior sagittal sinus thrombosis (SSST) is an uncommon cause of stroke, whose symptoms and clinical course are highly variable. It is frequently associated with a variety of hypercoagulable states. Coagulation abnormalities are commonly seen in patients with hyperthyroidism. To the best of our knowledge, there are few reports on the association between hyperthyroidism and cerebral venous thrombosis. We report on a 31-year-old male patient with a six-year history of hyperthyroidism who devel...

  20. The evolution of cerebellar tonsillar herniation after cranial vault remodeling surgery.

    Science.gov (United States)

    Leikola, J; Hukki, A; Karppinen, A; Valanne, L; Koljonen, V

    2012-10-01

    We sought to examine the pre- and postoperative changes of cerebellar tonsillar herniation by MR imaging in asymptomatic pediatric patients with nonsyndromic, single-suture craniosynostosis (N-SSSC), who underwent cranial vault remodeling surgery without suboccipital decompression. We required cerebellar tonsillar herniation through foramen magnum ≥3 mm for Chiari type I malformation (CMI). We hypothesized that the increase of intracranial volume by cranial vault remodeling would correct the asymptomatic CMI. We identified 9 patients among 121 N-SSSC children undergoing craniofacial surgery from January 2004 to October 2010 with CMI. However, two of them were excluded from the study due to missing postoperative MR images. In the final study population, six were males, five were scaphocephalic, while two were diagnosed with coronal synostosis. In four of the cases, the CMI was decreased in postoperative MR imaging varying from 6 to 12 mm. In three cases, the herniation remained stable. The median change of cerebellar tonsillar herniation was -6.5 mm. We conclude that asymptomatic patients with existing CMI may benefit from cranial vault remodeling surgery alone increasing the intracranial volume.

  1. The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.

    Science.gov (United States)

    Brownstein, Zippora; Ben-Yosef, Tamar; Dagan, Orit; Frydman, Moshe; Abeliovich, Dvorah; Sagi, Michal; Abraham, Fabian A; Taitelbaum-Swead, Riki; Shohat, Mordechai; Hildesheimer, Minka; Friedman, Thomas B; Avraham, Karen B

    2004-06-01

    Usher syndrome is a frequent cause of the combination of deafness and blindness due to retinitis pigmentosa (RP). Five genes are known to underlie different forms of Usher syndrome type I (USH1). In the Ashkenazi Jewish population, the R245X mutation of the PCDH15 gene may be the most common cause of USH1 (Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RK, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB N Engl J Med 348: 1664-1670, 2003). To estimate what percentage of Ashkenazi Jewish children born with profound hearing loss will develop RP due to R245X, we examined the prevalence of the R245X PCDH15 mutation and its carrier rate among Ashkenazi Jews in Israel. Among probands diagnosed with nonsyndromic hearing loss not due to mutations of connexin 26 (GJB2) and/or connexin 30 (GJB6), and below the age of 10, 2 of 20 (10%) were homozygous for the R245X mutation. Among older nonsyndromic deaf individuals, no homozygotes were detected, although one individual was heterozygous for R245X. The carrier rate of the R245X mutation among the normal hearing Ashkenazi population in Israel was estimated at 1%. Ashkenazi Jewish children with profound prelingual hearing loss should be evaluated for the R245X PCDH15 mutation and undergo ophthalmologic evaluation to determine whether they will develop RP. Rehabilitation can then begin before loss of vision. Early use of cochlear implants in such cases may rescue these individuals from a dual neurosensory deficit.

  2. Sagittal Abdominal Diameter: Application in Clinical Practice

    Directory of Open Access Journals (Sweden)

    Thaís Da Silva-Ferreira

    2014-05-01

    Full Text Available Excess visceral fat is associated with cardiovascular risk factors. Sagittal abdominal diameter (SAD has recently been highlighted as an indicator of abdominal obesity, and also may be useful in predicting cardiovascular risk. The purpose of the present study was to review the scientific literature on the use of SAD in adult nutritional assessment. A search was conducted for scientific articles in the following electronic databases: SciELO , MEDLINE (PubMed and Virtual Health Library. SAD is more associated with abdominal fat (especially visceral, and with different cardiovascular risk factors, such as, insulin resistance, blood pressure, and serum lipoproteins than the traditional methods of estimating adiposity, such as body mass index and waist-to-hip ratio. SAD can also be used in association with other anthropometric measures. There are still no cut-off limits established to classify SAD as yet. SAD can be an alternative measure to estimate visceral adiposity. However, the few studies on this diameter, and the lack of consensus on the anatomical site to measure SAD, are obstacles to establish cut-off limits to classify it.

  3. Evaluation of Mandibular Anatomy Associated With Bad Splits in Sagittal Split Ramus Osteotomy of Mandible.

    Science.gov (United States)

    Wang, Tongyue; Han, Jeong Joon; Oh, Hee-Kyun; Park, Hong-Ju; Jung, Seunggon; Park, Yeong-Joon; Kook, Min-Suk

    2016-07-01

    This study aimed to identify risk factors associated with bad splits during sagittal split ramus osteotomy by using three-dimensional computed tomography. This study included 8 bad splits and 47 normal patients without bad splits. Mandibular anatomic parameters related to osteotomy line were measured. These included anteroposterior width of the ramus at level of lingula, distance between external oblique ridge and lingula, distance between sigmoid notch and inferior border of mandible, mandibular angle, distance between inferior outer surface of mandibular canal and inferior border of mandible under distal root of second molar (MCEM), buccolingual thickness of the ramus at level of lingula, and buccolingual thickness of the area just distal to first molar (BTM1) and second molar (BTM2). The incidence of bad splits in 625 sagittal split osteotomies was 1.28%. Compared with normal group, bad split group exhibited significantly thinner BTM2 and shorter sigmoid notch and inferior border of mandible (P bad splits. These anatomic data may help surgeons to choose the safest surgical techniques and best osteotomy sites.

  4. Skull fracture with effacement of the superior sagittal sinus following drone impact: a case report.

    Science.gov (United States)

    Chung, Lawrance K; Cheung, Yuri; Lagman, Carlito; Au Yong, Nicholas; McBride, Duncan Q; Yang, Isaac

    2017-09-01

    The popularity of unmanned aerial vehicles, or drones, raises safety concerns as they become increasingly common for commercial, personal, and recreational use. Collisions between drones and people may result in serious injuries. A 13-year-old male presented with a comminuted depressed skull fracture causing effacement of the superior sagittal sinus secondary to a racing drone impact. The patient experienced a brief loss of consciousness and reported lower extremity numbness and weakness after the accident. Imaging studies revealed bone fragments crossing the superior sagittal sinus with a short, focal segment of blood flow interruption. Neurosurgical intervention was deferred given the patient's improving neurological deficits, and the patient was treated conservatively. He was discharged home in stable condition. Drones may represent a hazard when operated inappropriately due to their capacity to fly at high speeds and altitudes. Impacts from drones can carry enough force to cause skull fractures and significant head injuries. The rising popularity of drones likely translates to an increased incidence of drone-related injuries. Thus, clinicians should be aware of this growing trend.

  5. Patients with proximal junctional kyphosis requiring revision surgery have higher postoperative lumbar lordosis and larger sagittal balance corrections.

    Science.gov (United States)

    Kim, Han Jo; Bridwell, Keith H; Lenke, Lawrence G; Park, Moon Soo; Song, Kwang Sup; Piyaskulkaew, Chaiwat; Chuntarapas, Tapanut

    2014-04-20

    Case control study. To evaluate risk factors in patients in 3 groups: those without proximal junctional kyphosis (PJK) (N), with PJK but not requiring revision (P), and then those with PJK requiring revision surgery (S). It is becoming clear that some patients maintain stable PJK angles, whereas others progress and develop severe PJK necessitating revision surgery. A total of 206 patients at a single institution from 2002 to 2007 with adult scoliosis with 2-year minimum follow-up (average 3.5 yr) were analyzed. Inclusion criteria were age more than 18 years and primary fusions greater than 5 levels from any thoracic upper instrumented vertebra to any lower instrumented vertebrae. Revisions were excluded. Radiographical assessment included Cobb measurements in the coronal/sagittal plane and measurements of the PJK angle at postoperative time points: 1 to 2 months, 2 years, and final follow-up. PJK was defined as an angle greater than 10°. The prevalence of PJK was 34%. The average age in N was 49.9 vs. 51.3 years in P and 60.1 years in S. Sex, body mass index, and smoking status were not significantly different between groups. Fusions extending to the pelvis were 74%, 85%, and 91% of the cases in groups N, P, and S. Instrumentation type was significantly different between groups N and S, with a higher number of upper instrumented vertebra hooks in group N. Radiographical parameters demonstrated a higher postoperative lumbar lordosis and a larger sagittal balance change, with surgery in those with PJK requiring revision surgery. Scoliosis Research Society postoperative pain scores were inferior in group N vs. P and S, and Oswestry Disability Index scores were similar between all groups. Patients with PJK requiring revision were older, had higher postoperative lumbar lordosis, and larger sagittal balance corrections than patients without PJK. Based on these data, it seems as though older patients with large corrections in their lumbar lordosis and sagittal balance

  6. Spinal sagittal balance substantially influences locomotive syndrome and physical performance in community-living middle-aged and elderly women.

    Science.gov (United States)

    Muramoto, Akio; Imagama, Shiro; Ito, Zenya; Hirano, Kenichi; Ishiguro, Naoki; Hasegawa, Yukiharu

    2016-03-01

    Spinal sagittal imbalance has been well known risk factor of decreased quality of life in the field of adult spinal deformity. However, the impact of spinal sagittal balance on locomotive syndrome and physical performance in community-living elderly has not yet been clarified. The present study investigated the influence of spinal sagittal alignment on locomotive syndrome (LS) and physical performance in community-living middle-aged and elderly women. A total of 125 women between the age of 40-88 years (mean 66.2 ± 9.7 years) who completed the questionnaires, spinal mouse test, physical examination and physical performance tests in Yakumo study were enrolled in this study. Participants answered the 25-Question Geriatric Locomotive Function Scale (GLFS-25), the visual analog scale (VAS) for low back pain (LBP), knee pain. LS was defined as having a score of >16 points on the GLFS-25. Using spinal mouse, spinal inclination angle (SIA), thoracic kyphosis angle (TKA), lumbar lordosis angle (LLA), sacral slope angle (SSA), thoracic spinal range of motion (TSROM), lumbar spinal range of motion (LSROM) were measured. Timed-up-and-go test (TUG), one-leg standing time with eyes open (OLS), and maximum stride, back muscle strength were also measured. The relationship between spinal sagittal parameters and GLFS-25, VAS and physical performance tests were analyzed. 26 people were diagnosed as LS and 99 were diagnosed as non-LS. LBP and knee pain were greater, physical performance tests were poorer, SIA were greater, LLA were smaller in LS group compared to non-LS group even after adjustment by age. SIA significantly correlated with GLFS-25, TUG, OLS and maximum stride even after adjustment by age. The cutoff value of SIA for locomotive syndrome was 6°. People with a SIA of 6° or greater were grouped as "Inclined" and people with a SIA of less than 6° were grouped as "Non-inclined". 21 people were "Inclined" and 104 were "Non-inclined". Odds ratio to fall in LS of

  7. Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.

    Science.gov (United States)

    Schulze, Andreas; Bauman, Margaret; Tsai, Anne Chun-Hui; Reynolds, Ann; Roberts, Wendy; Anagnostou, Evdokia; Cameron, Jessie; Nozzolillo, Alixandra A; Chen, Shiyi; Kyriakopoulou, Lianna; Scherer, Stephen W; Loh, Alvin

    2016-01-01

    Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism. The goal of the study was to ascertain the prevalence of creatine deficiency syndromes (CDSs) in children with autism spectrum disorder (ASD). In a prospective multicenter study, 443 children were investigated after a confirmed diagnosis of ASD. Random spot urine screening for creatine metabolites (creatine, guanidinoacetate, creatinine, and arginine) with liquid chromatography-tandem mass spectrometry and second-tier testing with high-performance liquid chromatography methodology was followed by recall testing in 24-hour urines and confirmatory testing by Sanger-based DNA sequencing of GAMT, GATM, and SLC6A8 genes. Additional diagnostic tests included plasma creatine metabolites and in vivo brain proton magnetic resonance spectroscopy. The creatine metabolites in spot urine in the autism group were compared with 128 healthy controls controlled for age. In 443 subjects with ASD investigated for CDS, we had 0 events (event: 0, 95% confidence interval 0-0.0068), therefore with 95% confidence the prevalence of CDS is creatine metabolites (P > .0125) in urine. Our study revealed a very low prevalence of CDS in children with nonsyndromic ASD and no obvious association between creatine metabolites and autism. Unlike our study population, we expect more frequent CDS among children with severe developmental delay, speech impairment, seizures, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors. Copyright © 2016 by the American Academy of Pediatrics.

  8. Contributions of individual muscles to the sagittal- and frontal-plane angular accelerations of the trunk in walking.

    Science.gov (United States)

    Klemetti, Rudolf; Steele, Katherine M; Moilanen, Petro; Avela, Janne; Timonen, Jussi

    2014-07-18

    This study was conducted to analyze the unimpaired control of the trunk during walking. Studying the unimpaired control of the trunk reveals characteristics of good control. These characteristics can be pursued in the rehabilitation of impaired control. Impaired control of the trunk during walking is associated with aging and many movement disorders. This is a concern as it is considered to increase fall risk. Muscles that contribute to the trunk control in normal walking may also contribute to it under perturbation circumstances, attempting to prevent an impending fall. Knowledge of such muscles can be used to rehabilitate impaired control of the trunk. Here, angular accelerations of the trunk induced by individual muscles, in the sagittal and frontal planes, were calculated using 3D muscle-driven simulations of seven young healthy subjects walking at free speed. Analysis of the simulations demonstrated that the abdominal and back muscles displayed large contributions throughout the gait cycle both in the sagittal and frontal planes. Proximal lower-limb muscles contributed more than distal muscles in the sagittal plane, while both proximal and distal muscles showed large contributions in the frontal plane. Along with the stance-limb muscles, the swing-limb muscles also exhibited considerable contribution. The gluteus medius was found to be an important individual frontal-plane control muscle; enhancing its function in pathologies could ameliorate gait by attenuating trunk sway. In addition, since gravity appreciably accelerated the trunk in the frontal plane, it may engender excessive trunk sway in pathologies. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. Correlation Between Lumbopelvic and Sagittal Parameters and Health-Related Quality of Life in Adults With Lumbosacral Spondylolisthesis.

    Science.gov (United States)

    Gussous, Yazeed; Theologis, Alexander A; Demb, Joshua B; Tangtiphaiboontana, Jennifer; Berven, Sigurd

    2018-02-01

    Secondary analysis of prospective, multicenter data. To evaluate impact of sagittal parameters on health-related quality of life (HRQoL) in adults with lumbosacral spondylolisthesis. Adults with unoperated lumbosacral spondylolisthesis were identified in the Spinal Deformity Study Group database. Pearson's correlations were calculated between SF-12 (Short Form-12)/Scoliosis Research Society-30 (SRS-30) scores and radiographic parameters (C7 sagittal vertical axis [SVA] deviation, T1 pelvic angle, pelvic tilt [PT], pelvic incidence, sacral slope, slip angle, Meyerding slip grade, Labelle classification). Main effects linear regression models measured association between individual health status measures and individual radiographic predictor variables. Forty-five patients were analyzed (male, 15; female, 30; average age 40.5 ± 18.7 years; 14 low-grade, 31 high-grade). For low-grade slips, SVA had strong negative correlations with SF-12 mental component score (MCS), SRS-30 appearance, mental, and satisfaction domains ( r = -0.57, r = -0.60, r = -0.58, r = -0.53, respectively; P grade slips, slip angle had a moderate negative correlation with SF-12 MCS ( r = -0.36; P = .05) and SVA had strong negative correlations with SF-12 physical component score (PCS), SRS-30 appearance and activity domains ( r = -0.48, r = -0.48, r = -0.45; P point decrease in SRS appearance, 0.05-point decrease in SRS activity, 0.06-point decrease in SRS satisfaction, and 0.04-point decrease in SRS total score ( P grade slips. Improvement of sagittal parameters is an important goal of surgery for adults with lumbosacral spondylolisthesis.

  10. Brief communication: age and fractal dimensions of human sagittal and coronal sutures

    DEFF Research Database (Denmark)

    Lynnerup, Niels; Jacobsen, Jens Christian Brings

    2003-01-01

    The fractal dimensions of human sagittal and coronal sutures were calculated on 31 complete skulls from the Terry Collection. The aim was to investigate whether the fractal dimension, relying on the whole sutural length, might yield a better description of age-related changes in sutural morphology......, as opposed to other methods of quantification, which generally rely on more arbitrary scoring systems. However, the fractal dimension did not yield better age correlations than other previously described methods. At best, the results reflected the general observation that young adults below age 40 years...

  11. Sci-Thur AM: YIS – 03: Combining sagittally-reconstructed 3D and live-2D ultrasound for high-dose-rate prostate brachytherapy needle segmentation

    Energy Technology Data Exchange (ETDEWEB)

    Hrinivich, Thomas; Hoover, Douglas; Surry, Kathleen; Edirisinghe, Chandima; D’Souza, David; Fenster, Aaron; Wong, Eugene [University of Western Ontario, London Regional Cancer Program/LHSC, London Regional Cancer Program/LHSC, Robarts Research Institute, London Regional Cancer Program/LHSC, Robarts Research Institute, University of Western Ontario (Canada)

    2016-08-15

    Ultrasound-guided high-dose-rate prostate brachytherapy (HDR-BT) needle segmentation is performed clinically using live-2D sagittal images. Organ segmentation is then performed using axial images, introducing a source of geometric uncertainty. Sagittally-reconstructed 3D (SR3D) ultrasound enables both needle and organ segmentation, but suffers from shadow artifacts. We present a needle segmentation technique augmenting SR3D with live-2D sagittal images using mechanical probe tracking to mitigate image artifacts and compare it to the clinical standard. Seven prostate cancer patients underwent TRUS-guided HDR-BT during which the clinical and proposed segmentation techniques were completed in parallel using dual ultrasound video outputs. Calibrated needle end-length measurements were used to calculate insertion depth errors (IDEs), and the dosimetric impact of IDEs was evaluated by perturbing clinical treatment plan source positions. The proposed technique provided smaller IDEs than the clinical approach, with mean±SD of −0.3±2.2 mm and −0.5±3.7mm respectively. The proposed and clinical techniques resulted in 84% and 43% of needles with IDEs within ±3mm, and IDE ranges across all needles of [−7.7mm, 5.9mm] and [−9.3mm, 7.7mm] respectively. The proposed and clinical IDEs lead to mean±SD changes in the volume of the prostate receiving the prescription dose of −0.6±0.9% and −2.0±5.3% respectively. The proposed technique provides improved HDR-BT needle segmentation accuracy over the clinical technique leading to decreased dosimetric uncertainty by eliminating the axial-to-sagittal registration, and mitigates the effect of shadow artifacts by incorporating mechanically registered live-2D sagittal images.

  12. CHARACTERISTICS OF BODY POSTURE IN THE SAGITTAL PLANE AND FITNESS OF FIRST-FORM PUPILS FROM RURAL AREAS

    Directory of Open Access Journals (Sweden)

    Hanna Żukowska

    2014-07-01

    Full Text Available Purpose: to find correlations between characteristics of body posture in the sagittal plane and fitness and endurance of first-form children from rural areas. Material: an analysis of more than 30 sources of scientific and educational literature. Results: the study involved 209 children, including 102 girls and 107 boys. They were children who lived in the country since they were born. To assess particular characteristics of body posture, the children were studied by means of the measuring equipment using the projection Moiré system. Motor skills were estimated using selected EUROFIT physical fitness tests (sitting forward bend, standing broad jump, handgrip, sit-and-reach, bent arm hang and 10 x 5 m shuttle run. The level of physical endurance was evaluated with the Harvard Step Test modified by Montoye. Conclusions: the conducted research reveals statistically significant correlations between the characteristics of body posture in the sagittal plane and selected EUROFIT physical fitness tests and physical endurance of the children involved in the study.

  13. Cervical sagittal balance parameters after single-level anterior cervical discectomy and fusion: Correlations with clinical and functional outcomes

    Directory of Open Access Journals (Sweden)

    Ioannis Siasios

    2018-01-01

    Conclusions: Single-level ACDF significantly increases upper cervical lordosis (C1–C2 without significantly changing lower cervical lordosis (C2–C7. The C7 slope is a significant marker of overall cervical sagittal alignment (P < 0.05.

  14. Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.

    Science.gov (United States)

    Wang, Yirui; Sun, Yimin; Huang, Yongqing; Pan, Yongchu; Jia, Zhonglin; Ma, Lijuan; Ma, Lan; Lan, Feifei; Zhou, Yuxi; Shi, Jiayu; Yang, Xiong; Zhang, Lei; Jiang, Hongbing; Jiang, Min; Yin, Aihua; Cheng, Jing; Wang, Lin; Yang, Yinxue; Shi, Bing

    2016-08-15

    Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects worldwide and is characterized by abnormalities of the orofacial structure. Syndromic CL/P is mainly caused by Mendelian disorders such as Van der Woude Syndrome (VWS). However, >70% of CL/P cases are nonsyndromic, characterized by isolated orofacial cleft without any known syndrome. The etiology of nonsyndromic CL/P (NSCL/P) remains elusive, but it has been suggested that causative genes of syndromic CL/P might also contribute to NSCL/P. As such, the VWS causative gene IRF6 has been extensively studied in NSCL/P. Recently, GRHL3 was identified as another VWS causative gene. Thus, it may be a novel candidate gene for NSCL/P. In the present study, we genotyped 10 tag SNPs covering GRHL3 and performed association analysis with NSCL/P in 504 cases and 455 healthy controls. Our preliminary results identified rs10903078, rs4638975, and a haplotype rs10903078-rs6659209 of GRHL3 that exceeded the significance threshold (p<0.05), though none survived Bonferroni correction for multiple comparisons. As the first study between GRHL3 and NSCL/P, the contribution of this gene to NSCL/P etiology should be interpreted with caution based on existing evidence. Further, the robustness of association between GRHL3 and NSCL/P should be further validated in expanded cohorts. Copyright © 2016. Published by Elsevier B.V.

  15. Early postnatal development of the mandible in children with isolated cleft palate and children with nonsyndromic Robin sequence

    DEFF Research Database (Denmark)

    Eriksen, J.; Hermann, N.V.; Darvann, Tron Andre

    2006-01-01

    Objective: Analysis of early postnatal mandibular size and growth velocity in children with untreated isolated cleft palate (ICP), nonsyndromic Robin sequence (RS), and a control group of children with unilateral incomplete cleft lip (UICL). Material: 114 children (66 isolated cleft palate, 7 Robin...... and mandibular growth velocity (mm/year) was calculated. Cleft width was measured on the casts at 2 months of age. Results: Mean mandibular length and posterior height were significantly smaller in isolated cleft palate and Robin sequence, compared with unilateral incomplete cleft lip. Mandibular length in Robin...... sequence was also significantly shorter, compared with isolated cleft palate. No significant difference was found between mean mandibular growth velocities in the three groups. No significant correlation was found between mandibular length and cleft width in either isolated cleft palate or Robin sequence...

  16. Multiple tooth anomalies in a nonsyndromic patient with class II division 2 malocclusions: A case report and a literature review.

    Science.gov (United States)

    Isman, E; Isman, O; Aktan, A M; Ciftci, E; Topcuoglu, T

    2015-01-01

    Reports in the literature about the craniofacial characteristics of patients with class II division 2 malocclusions show a lot of different patterns accompanied by palatally displaced upper incisors, congenital missing teeth, polydiastema, fusion, germination, tooth impaction, peg-shaped lateral incisors, persistent teeth, hypodontia, persistent deciduous teeth, transpositions, and supernumerary teeth. The following case report focuses on the description of the clinical characteristics observed on a patient with a very unusual conjunction of dental and skeletal anomalies mentioned above, as well as a literature review on the related issues. Extra-intra-oral examinations, radiographic evaluations, orthodontic consultation, and reviewing the literature concluded that this nonsyndromic patient that refused to receive all dental treatment approaches is special with its uniqueness.

  17. Direct sagittal CT scanning in the diagnosis of pituitary fossa tumours and posterior fossa pathology

    International Nuclear Information System (INIS)

    Podlas, H.

    1981-01-01

    Two independent methods are presented for multidirectional CT scanning of the brain using the Philips Tomoscan 300. The advantages in scanning pituitary fossa tumours and pathology of the posterior fossa are discussed. No additional software or modifications are required. Direct sagittal scanning is particularly advantageous for accurate assessment of the size of pituitary tumours and intrasellar lesions requiring surgical intervention or radiation therapy. (Auth.)

  18. Sagittal Thoracic and Lumbar Spine Profiles in Upright Standing and Lying Prone Positions Among Healthy Subjects: Influence of Various Biometric Features.

    Science.gov (United States)

    Salem, Walid; Coomans, Ysaline; Brismée, Jean-Michel; Klein, Paul; Sobczak, Stéphane; Dugailly, Pierre-Michel

    2015-08-01

    A prospective study was performed on the assessment of both thoracic and lumbar spine sagittal profiles (from C7 to S1). To propose a new noninvasive method for measuring the spine curvatures in standing and lying prone positions and to analyze their relationship with various biometric characteristics. Modifications of spine curvatures (i.e. lordosis or kyphosis) are of importance in the development of spinal disorders. Studies have emphasized the development of new devices to measure the spine sagittal profiles using a noninvasive and low-cost method. To date, it has not been applied for analyzing both lumbar and thoracic alterations for various positioning. Seventy-five healthy subjects (mean 22.6 ± 4.3 yr) were recruited to participate in this study. Thoracic and lumbar sagittal profiles were assessed in standing and lying prone positions using a 3D digitizer. In addition, several biometric data were collected including maximal trunk isometric strength for flexion and extension movement. Statistical analysis consisted in data comparisons of spine profiles and a multivariate analysis including biometric features, to classify individuals considering low within- and high between-variability. Kyphosis and lordosis angles decreased significantly from standing to lying prone position by an average of 13.4° and 16.6°, respectively. Multivariate analysis showed a sample clustering of 3 homogenous subgroups. The first group displayed larger lordosis and flexibility, and had low data values for height, weight, and strength. The second group had lower values than the overall trend of the whole sample, whereas the third group had larger score values for the torques, height, weight, waist, body mass index, and kyphosis angle but a reduced flexibility. The present results demonstrate a significant effect of the positioning on both thoracic and lumbar spine sagittal profiles and highlight the use of cluster analysis to categorize subgroups after biometric characteristics

  19. Evaluation of Andrews' Analysis as a Predictor of Ideal Sagittal Maxillary Positioning in Orthognathic Surgery.

    Science.gov (United States)

    Resnick, Cory M; Kim, Somi; Yorlets, Rachel R; Calabrese, Carly E; Peacock, Zachary S; Kaban, Leonard B

    2018-03-22

    There is no universally accepted method for determining the ideal sagittal position of the maxilla in orthognathic surgery. In "Element II" of "The Six Elements of Orofacial Harmony," Andrews used the forehead to define the goal maxillary position. The purpose of this study was to compare how well this analysis correlated with postoperative findings in patients who underwent bimaxillary orthognathic surgery planned using other guidelines. The authors hypothesized that the Andrews analysis would more consistently reflect clinical outcomes than standard angular and linear measurements. This is a retrospective cohort study of patients who had bimaxillary orthognathic surgery and achieved an acceptable esthetic outcome. Patients with no maxillary sagittal movement, obstructive sleep apnea, cleft or craniofacial diagnoses, or who were non-Caucasian were excluded. Treatment plans were developed using photographs, radiographs, and standard cephalometric measurements. The Andrews analysis, measuring the distance from the maxillary incisor to the goal anterior limit line, and standard measurements were applied to end-treatment records. The Andrews analysis was statistically compared with standard methods. There were 493 patients who had orthognathic surgery from 2007 through 2014, and 60 (62% women; mean age, 22.1 ± 6.8 yr) met the criteria for inclusion in this study. The mean Andrews distances were -4.8 ± 2.9 mm for women and -8.6 ± 4.6 mm for men preoperatively and -0.6 ± 2.1 mm for women and -1.9 ± 3.4 mm for men postoperatively. For women, the Andrews analysis was closer to the goal value (0 mm) postoperatively than any standard measurement (P Andrews analysis. The Andrews analysis correlated well with the final esthetic sagittal maxillary position in the present sample, particularly for women, and could be a useful tool for orthognathic surgical planning. Copyright © 2018 American Association of Oral and Maxillofacial Surgeons. Published by

  20. Agreement between fiber optic and optoelectronic systems for quantifying sagittal plane spinal curvature in sitting.

    Science.gov (United States)

    Cloud, Beth A; Zhao, Kristin D; Breighner, Ryan; Giambini, Hugo; An, Kai-Nan

    2014-07-01

    Spinal posture affects how individuals function from a manual wheelchair. There is a need to directly quantify spinal posture in this population to ultimately improve function. A fiber optic system, comprised of an attached series of sensors, is promising for measuring large regions of the spine in individuals sitting in a wheelchair. The purpose of this study was to determine the agreement between fiber optic and optoelectronic systems for measuring spinal curvature, and describe the range of sagittal plane spinal curvatures in natural sitting. Able-bodied adults (n = 26, 13 male) participated. Each participant assumed three sitting postures: natural, slouched (accentuated kyphosis), and extension (accentuated lordosis) sitting. Fiber optic (ShapeTape) and optoelectronic (Optotrak) systems were applied to the skin over spinous processes from S1 to C7 and used to measure sagittal plane spinal curvature. Regions of kyphosis and lordosis were identified. A Cobb angle-like method was used to quantify lordosis and kyphosis. Generalized linear model and Bland-Altman analyses were used to assess agreement. A strong correlation exists between curvature values obtained with Optotrak and ShapeTape (R(2) = 0.98). The mean difference between Optotrak and ShapeTape for kyphosis in natural, extension, and slouched postures was 4.30° (95% LOA: -3.43 to 12.04°), 3.64° (95% LOA: -1.07 to 8.36°), and 4.02° (95% LOA: -2.80 to 10.84°), respectively. The mean difference for lordosis, when present, in natural and extension postures was 2.86° (95% LOA: -1.18 to 6.90°) and 2.55° (95% LOA: -3.38 to 8.48°), respectively. In natural sitting, the mean ± SD of kyphosis values was 35.07 ± 6.75°. Lordosis was detected in 8/26 participants: 11.72 ± 7.32°. The fiber optic and optoelectronic systems demonstrate acceptable agreement for measuring sagittal plane thoracolumbar spinal curvature. Copyright © 2014 Elsevier B.V. All rights reserved.

  1. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

    Directory of Open Access Journals (Sweden)

    Shotland Lawrence I

    2004-09-01

    Full Text Available Abstract Background Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10. TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In this study, we searched for mutant alleles of TMPRSS3 in families from Pakistan and Newfoundland with recessive deafness co-segregating with DFNB8/B10 linked haplotypes and also more thoroughly characterized the genomic structure of TMPRSS3. Methods We enrolled families segregating recessive hearing loss from Pakistan and Newfoundland. Microsatellite markers flanking the TMPRSS3 locus were used for linkage analysis. DNA samples from participating individuals were sequenced for TMPRSS3. The structure of TMPRSS3 was characterized bioinformatically and experimentally by sequencing novel cDNA clones of TMPRSS3. Results We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. We also identified two recessive mutations, one of which is novel, of TMPRSS3 segregating in a six-generation extended family from Newfoundland. The spectrum of TMPRSS3 mutations is reviewed in the context of a genotype-phenotype correlation. Our study also revealed a longer isoform of TMPRSS3 with a hitherto unidentified exon encoding a signal peptide, which is expressed in several tissues. Conclusion Mutations of TMPRSS3 contribute to hearing loss in many communities worldwide and account for 1.8% (8 of 449 of Pakistani families segregating congenital deafness as an autosomal recessive trait. The newly identified TMPRSS3 isoform e will be helpful in the functional characterization of the full length protein.

  2. An algorithm based on OmniView technology to reconstruct sagittal and coronal planes of the fetal brain from volume datasets acquired by three-dimensional ultrasound.

    Science.gov (United States)

    Rizzo, G; Capponi, A; Pietrolucci, M E; Capece, A; Aiello, E; Mammarella, S; Arduini, D

    2011-08-01

    To describe a novel algorithm, based on the new display technology 'OmniView', developed to visualize diagnostic sagittal and coronal planes of the fetal brain from volumes obtained by three-dimensional (3D) ultrasonography. We developed an algorithm to image standard neurosonographic planes by drawing dissecting lines through the axial transventricular view of 3D volume datasets acquired transabdominally. The algorithm was tested on 106 normal fetuses at 18-24 weeks of gestation and the visualization rates of brain diagnostic planes were evaluated by two independent reviewers. The algorithm was also applied to nine cases with proven brain defects. The two reviewers, using the algorithm on normal fetuses, found satisfactory images with visualization rates ranging between 71.7% and 96.2% for sagittal planes and between 76.4% and 90.6% for coronal planes. The agreement rate between the two reviewers, as expressed by Cohen's kappa coefficient, was > 0.93 for sagittal planes and > 0.89 for coronal planes. All nine abnormal volumes were identified by a single observer from among a series including normal brains, and eight of these nine cases were diagnosed correctly. This novel algorithm can be used to visualize standard sagittal and coronal planes in the fetal brain. This approach may simplify the examination of the fetal brain and reduce dependency of success on operator skill. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.

  3. Reliability of the Radiographic Sagittal and Frontal Tibiotalar Alignment after Ankle Arthrodesis.

    Science.gov (United States)

    Willegger, Madeleine; Holinka, Johannes; Nemecek, Elena; Bock, Peter; Wanivenhaus, Axel Hugo; Windhager, Reinhard; Schuh, Reinhard

    2016-01-01

    Accurate measurement of the tibiotalar alignment is important in radiographic outcome assessment of ankle arthrodesis (AA). In studies, various radiological methods have been used to measure the tibiotalar alignment leading to facultative misinterpretation of results. However, to our knowledge, no previous study has investigated the reliability of tibiotalar alignment measurement in AA. We aimed to investigate the reliability of four different methods of measurement of the frontal and sagittal tibiotalar alignment after AA, and to further clarify the most reliable method for determining the longitudinal axis of the tibia. Thirty-eight weight bearing anterior to posterior and lateral ankle radiographs of thirty-seven patients who had undergone AA with a two screw fixation technique were selected. Three observers measured the frontal tibiotalar angle (FTTA) and the sagittal tibiotalar angle (STTA) using four different methods. The methods differed by the definition of the longitudinal tibial axis. Method A was defined by a line drawn along the lateral tibial border in anterior to posterior radiographs and along the posterior tibial border in lateral radiographs. Method B was defined by a line connecting two points in the middle of the proximal and the distal tibial shaft. Method C was drawn "freestyle"along the longitudinal axis of the tibia, and method D was defined by a line connecting the center of the tibial articular surface and a point in the middle of the proximal tibial shaft. Intra- and interobserver correlation coefficients (ICC) and repeated measurement ANOVA were calculated to assess measurement reliability and accuracy. All four methods showed excellent inter- and intraobserver reliability for the FTTA and the STTA. When the longitudinal tibial axis is defined by connecting two points in the middle of the proximal and the distal tibial shaft, the highest interobserver reliability for the FTTA (ICC: 0.980; CI 95%: 0.966-0.989) and for the STTA (ICC: 0

  4. Reliability of the Radiographic Sagittal and Frontal Tibiotalar Alignment after Ankle Arthrodesis.

    Directory of Open Access Journals (Sweden)

    Madeleine Willegger

    Full Text Available Accurate measurement of the tibiotalar alignment is important in radiographic outcome assessment of ankle arthrodesis (AA. In studies, various radiological methods have been used to measure the tibiotalar alignment leading to facultative misinterpretation of results. However, to our knowledge, no previous study has investigated the reliability of tibiotalar alignment measurement in AA. We aimed to investigate the reliability of four different methods of measurement of the frontal and sagittal tibiotalar alignment after AA, and to further clarify the most reliable method for determining the longitudinal axis of the tibia.Thirty-eight weight bearing anterior to posterior and lateral ankle radiographs of thirty-seven patients who had undergone AA with a two screw fixation technique were selected. Three observers measured the frontal tibiotalar angle (FTTA and the sagittal tibiotalar angle (STTA using four different methods. The methods differed by the definition of the longitudinal tibial axis. Method A was defined by a line drawn along the lateral tibial border in anterior to posterior radiographs and along the posterior tibial border in lateral radiographs. Method B was defined by a line connecting two points in the middle of the proximal and the distal tibial shaft. Method C was drawn "freestyle"along the longitudinal axis of the tibia, and method D was defined by a line connecting the center of the tibial articular surface and a point in the middle of the proximal tibial shaft. Intra- and interobserver correlation coefficients (ICC and repeated measurement ANOVA were calculated to assess measurement reliability and accuracy.All four methods showed excellent inter- and intraobserver reliability for the FTTA and the STTA. When the longitudinal tibial axis is defined by connecting two points in the middle of the proximal and the distal tibial shaft, the highest interobserver reliability for the FTTA (ICC: 0.980; CI 95%: 0.966-0.989 and for the

  5. Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting.

    Science.gov (United States)

    Howe, B J; Cooper, M E; Vieira, A R; Weinberg, S M; Resick, J M; Nidey, N L; Wehby, G L; Marazita, M L; Moreno Uribe, L M

    2015-07-01

    Children with oral clefts show a wide range of dental anomalies, adding complexity to understanding the phenotypic spectrum of orofacial clefting. The evidence is mixed, however, on whether the prevalence of dental anomalies is elevated in unaffected relatives and is mostly based on small samples. In the largest international cohort to date of children with nonsyndromic clefts, their relatives, and controls, this study characterizes the spectrum of cleft-related dental anomalies and evaluates whether families with clefting have a significantly higher risk for such anomalies compared with the general population. A total of 3,811 individuals were included: 660 cases with clefts, 1,922 unaffected relatives, and 1,229 controls. Dental anomalies were identified from in-person dental exams or intraoral photographs, and case-control differences were tested using χ(2) statistics. Cases had higher rates of dental anomalies in the maxillary arch than did controls for primary (21% vs. 4%, P = 3 × 10(-8)) and permanent dentitions (51% vs. 8%, P = 4 × 10(-62)) but not in the mandible. Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. More anomalies were seen in the ipsilateral side of the cleft. Agenesis and tooth displacements were the most common dental anomalies found in case probands for primary and permanent dentitions. Compared with controls, unaffected siblings (10% vs. 2%, P = 0.003) and parents (13% vs. 7%, P = 0.001) showed a trend for increased anomalies of the maxillary permanent dentition. Yet, these differences were nonsignificant after multiple-testing correction, suggesting genetic heterogeneity in some families carrying susceptibility to both overt clefts and dental anomalies. Collectively, the findings suggest that most affected families do not have higher genetic risk for dental anomalies than the general population and that the higher prevalence of anomalies in cases is primarily a physical consequence of the

  6. Chronic low back pain after lumbosacral fracture due to sagittal and frontal vertebral imbalance.

    Science.gov (United States)

    Boyoud-Garnier, L; Boudissa, M; Ruatti, S; Kerschbaumer, G; Grobost, P; Tonetti, J

    2017-06-01

    Over time, some patients with unilateral or bilateral lumbosacral injuries experience chronic low back pain. We studied the sagittal and frontal balance in a population with these injuries to determine whether mismatch in the pelvic and lumbar angles are associated with chronic low back pain. Patients with posterior pelvic ring fractures (Tile C1, C2, C3 and A3.3) that had healed were included. Foreign patients and those with an associated spinal or acetabular fracture or nonunion were excluded. The review consisted of subjective questionnaires, a clinical examination, and standing A/P and lateral stereoradiographic views. The pelvic tilt (PT), sacral slope (SS), pelvic incidence (PI), measured lumbar lordosis (LLm), T9 sagittal offset, leg discrepancy (LD) and lateral curvature (LC). The expected lumbar lordosis (LLe) was calculated using the formula LLe=PI+9°. We defined lumbopelvic mismatch (LPM) as the difference between LLm and LLe being equal or greater than 25% of LLe. Fifteen patients were reviewed after an average follow-up of 8.8 years [5.4-15]. There were four Tile C1, five Tile C2, five Tile C3 and one Tile A3.3 fracture. Ten of the 15 patients had low back pain. The mean angles were: LLm 49.6° and LLe 71.9° (P=0.002), PT 21.3°, SS 44.1°, PI 62.9° in patients with low back pain and LLm 57.4° and LLe 63.2° (P=0.55), PT 13°, SS 43.1°, PI 54.2° in those without. LPM was present in 9 patients, 8 of who had low back pain (P=0.02). Six patients, all of whom had low back pain, had a mean LC of 7.5° [4.5-23] (P=0.02). The mean LD was 0.77cm. The findings of this small study suggest that patients who experience low back pain after their posterior arch of the pelvic ring fracture has healed, have a lumbopelvic mismatch. Early treatment of these patients should aim to reestablish the anatomy of the pelvic base relative to the frontal and sagittal balance. IV. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  7. Intensive care unit course of infants and children after cranial vault reconstruction for craniosynostosis

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    Jansen David A

    2011-09-01

    Full Text Available Abstract Background Craniosynostosis (CSS results from the premature closure of one or more cranial sutures, leading to deformed calvaria at birth. It is a common finding in children with an incidence of one in 2000 births. Surgery is required in order to release the synostotic constraint and promote normal calvaria growth. Cranial vault remodeling is the surgical approach to CSS repair at our institution and it involves excision of the frontal, parietal, and occipital bones. The purpose of this article is to describe the post-operative course of infants and children admitted to our PICU after undergoing cranial vault remodeling for primary CSS. Findings Complete data was available for analyses in only 82 patients, 44 males (M and 38 females (F; M: F ratio was 1:1.2. Patients (pts age in months (mo ranged from 2 mo to 132 mo, mean 18.2 ±-24.9 mo and weights (wt ranged from 4.7 kg to 31.4 kg, mean 10.24 ± 5.5 Kg.. Duration of surgery (DOS ranged from 70 minutes to 573 minutes mean 331.6 ± 89.0 minutes. No significant correlation exist between duration of surgery, suture category, patient's age or use of blood products (P > 0.05. IOP blood loss was higher in older pts (P 3 days in 32%. Pts with fever had prolonged LOS (P Conclusions Post-op morbidities from increased use of blood products can be minimized if cranial vault remodeling is done at a younger age in patients with primary CSS. PICU length of stay is determined in part by post-op pyrexia and it can be reduced if extensive evaluations of post-op fever are avoided.

  8. Normal values of the sagittal diameter of the lumbar spine (vertebral body and dural sac) in children measured by MRI

    International Nuclear Information System (INIS)

    Knirsch, Walter; Kurtz, Claudia; Langer, Mathias; Haeffner, Nicole; Kececioglu, Deniz

    2005-01-01

    The definition of normal values is a prerequisite for the reliable evaluation of abnormality in the lumbar spine, such as spinal canal stenosis or dural ectasia in patients with Marfan syndrome. Values for vertebral body diameter (VBD) and dural sac diameter (DSD) for the lumbar spine have been published in adults. In children, normal values have been established using conventional radiography or myelography, but not by MRI. To define normal values for the sagittal diameter of the vertebral body and dural sac, and to calculate a dural sac ratio (DSR) in the lumbosacral spine (L1-S1) in healthy children using MRI. A total of 75 healthy children between 6 years and 17 years of age were examined using a sagittal T2-weighted sequence. Sagittal VBD and DSD were measured and a DSR was calculated. This was a retrospective and cross-sectional study. With increasing age there is a significant increase of VBD, a slight increase of DSD, and a slight decrease of DSR. There is no significant sex difference. DSR in healthy children is higher than in healthy adults. MRI is a reliable method demonstrating the natural shape of the lumbosacral spine and its absolute values. These normal values compare well with those established by conventional radiological techniques. Our data may serve as a reference for defining dural ectasia in children with Marfan syndrome. (orig.)

  9. Normal values of the sagittal diameter of the lumbar spine (vertebral body and dural sac) in children measured by MRI

    Energy Technology Data Exchange (ETDEWEB)

    Knirsch, Walter [University Children' s Hospital Freiburg, Department of Pediatric Cardiology, Freiburg (Germany); University Children' s Hospital Zurich, Division of Paediatric Cardiology, Zurich (Switzerland); Kurtz, Claudia; Langer, Mathias [University Hospital Freiburg, Department of Radiology, Freiburg (Germany); Haeffner, Nicole; Kececioglu, Deniz [University Children' s Hospital Freiburg, Department of Pediatric Cardiology, Freiburg (Germany)

    2005-04-01

    The definition of normal values is a prerequisite for the reliable evaluation of abnormality in the lumbar spine, such as spinal canal stenosis or dural ectasia in patients with Marfan syndrome. Values for vertebral body diameter (VBD) and dural sac diameter (DSD) for the lumbar spine have been published in adults. In children, normal values have been established using conventional radiography or myelography, but not by MRI. To define normal values for the sagittal diameter of the vertebral body and dural sac, and to calculate a dural sac ratio (DSR) in the lumbosacral spine (L1-S1) in healthy children using MRI. A total of 75 healthy children between 6 years and 17 years of age were examined using a sagittal T2-weighted sequence. Sagittal VBD and DSD were measured and a DSR was calculated. This was a retrospective and cross-sectional study. With increasing age there is a significant increase of VBD, a slight increase of DSD, and a slight decrease of DSR. There is no significant sex difference. DSR in healthy children is higher than in healthy adults. MRI is a reliable method demonstrating the natural shape of the lumbosacral spine and its absolute values. These normal values compare well with those established by conventional radiological techniques. Our data may serve as a reference for defining dural ectasia in children with Marfan syndrome. (orig.)

  10. A Comparative Study of Facial Asymmetry in Philippine, Colombian, and Ethiopian Families with Nonsyndromic Cleft Lip Palate

    Directory of Open Access Journals (Sweden)

    Liliana Otero

    2012-01-01

    Full Text Available Objective. To compare the asymmetry displayed by Philippine, Colombian, and Ethiopian unaffected parents of patients with nonsyndromic cleft palate (NSCLP and a control population. Methods. Facial measurements were compared between unaffected parents of NSCLP patients and those in the control group for three populations from South America, Asia, and Africa by anthropometric and photographic measurements. Fluctuating and directional asymmetries, height and width proportions, were analyzed and compared. Results. Fluctuating asymmetries (ear length, middle line to Zigion perpendicular for left and right sides and variations in the facial thirds demonstrated statistical significance in the study group of unaffected parents from Colombia and Philippines, while increased interorbital distance was evident in the unaffected Ethiopian parents of NSCLP patients. Conclusions. The facial differences in unaffected parents could indicate an underlying genetic liability. Identification of these differences has relevance in the understanding of the etiology of NSCLP.

  11. Papilledema secondary to a superior sagittal sinus thrombosis. Mantle cell lymphoma paraneoplastic syndrome.

    Science.gov (United States)

    Platas-Moreno, I; Antón-Benito, A; Pérez-Cid-Rebolleda, M T; Rosado Sierra, M B

    2016-01-01

    A 46 year old patient presented with visual loss in the left eye during the previous months. Ophthalmoscopic examination and magnetic resonance angiography found the presence of papilledema due to thrombosis in superior sagittal sinus. The examination findings revealed a mantle cell lymphoma. Cerebral venous thrombosis is an unusual cause of papilledema. This type of thrombosis may be secondary to hyper-viscosity within a context of a paraneoplastic syndrome. Copyright © 2015 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

  12. Assessment of Normal Sagittal Alignment of the Spine and Pelvis in Children and Adolescents

    Directory of Open Access Journals (Sweden)

    Hasan Ghandhari

    2013-01-01

    Full Text Available Aim. We aimed to determine spinopelvic balance in 8–19-year-old-people in order to assess pelvic and spinal parameters in sagittal view. Methods. Ninety-eight healthy students aged 8–19 years, who lived in the central parts of Tehran, were assessed. Demographic data, history of present and past diseases, height (cm, and weight (kg were collected. Each subject was examined by an orthopedic surgeon and spinal radiographs in lateral view were obtained. Eight spinopelvic parameters were measured by 2 orthopedic spine surgeons. Results. Ninety-eight subjects, among which 48 were girls (49% and 50 boys (51%, with a mean age of 13.6±2.9 years (range: 8–19 were evaluated. Mean height and weight of children were 153.6±15.6 cm and 49.9±13.1 kgs, respectively. Mean TK, LL, TT, LT, and PI of subjects were 37.1 ± 9.9°, 39.6 ± 12.4°, 7.08 ± 4.9°, 12.0 ± 5.9°, and 45.37 ± 10.7°, respectively. Conclusion. Preoperation planning for spinal fusion surgeries via applying PI seems reasonable. Predicating “abnormal” to lordosis and kyphosis values alone without considering overall sagittal balance is incorrect. Mean of SS and TK in our population is slightly less than that in Caucasians.

  13. Magnetic resonance imaging of skeletal muscle in patients with Duchenne muscular dystrophy; Serial axial and sagittal section studies

    Energy Technology Data Exchange (ETDEWEB)

    Nagao, Hideo (Ehime Univ., Matsuyama (Japan). Faculty of Education); Morimoto, Takehiko; Sano, Nozomi; Takahashi, Mitsugi; Nagai, Hironao; Tawa, Ritsuko; Yoshimatsu, Makoto; Woo Young-Jong; Matsuda, Hiroshi

    1991-01-01

    Magnetic resonance imaging of skeletal muscles in thirteen patients with Duchenne muscular dystrophy was performed to estimate pathological changes. Serial axial and sagittal sections of the right lower extremity were recorded. In the early stage, the T{sub 1} values of gastrocnemius and soleus muscles were slightly lower than the control values, and in the late stage, the values were much lower in all muscles examined. In sagittal sections, the gastrocnemius muscle in the early stage showed a high density area at the distal region adjacent to soleus muscle, and the soleus muscle showed a high density area adjacent to the gestrocnemius muscle. In serial axial sections, high density areas of the anterior and posterior tibialis muscles appeared first at their proximal and peripheral regions. It was concluded that the sequence of appearance of pathological changes was different not only among individual muscles but also among various regions of each muscle; the high density changes appeared first at myotendon junctions. (author).

  14. Preoperative cervical sagittal alignment parameters and their impacts on myelopathy in patients with cervical spondylotic myelopathy: a retrospective study

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    Wei Yuan

    2017-11-01

    Full Text Available Background Cervical sagittal alignment plays an important role in the pathogenesis of cervical spondylotic myelopathy (CSM, but there are limited studies on the cervical sagittal parameters in CSM patients and their correlations with myelopathy. The aim of this study is to investigate the correlations among the preoperative cervical sagittal alignment parameters and their correlations with the development of myelopathy in patients with CSM. Methods We retrospectively collected 212 patients with CSM who underwent surgical interventions. Gender, age, modified Japanese Orthopedic Association score (mJOA, cervical lordosis (CL, C2–C7 sagittal vertical axis (C2–C7 SVA, T1 slope (T1S, neck tilt (NT and thoracic inlet angle (TIA were collected before operation. Interobserver and intraobserver reliability were calculated for all measurements (intraclass correlation coefficient, ICC. Data were analyzed with Pearson and Spearman correlation tests and multiple linear regression analysis. Results A total of 212 patients with CSM were included in this study (male: 136, female: 76 with an average age of 54.5 ± 10.1 years old. Intraobserver and interobserver reliability for all included radiographic parameters presented good to excellent agreement (ICC > 0.7. No significant differences in demographic and radiological parameters have been observed between males and females (P > 0.05. We found statistically significant correlations among the following parameters: age with CL (r = 0.135, P = 0.049, age with T1S (r = 0.222, P = 0.001, CL with T1S (r = 0.291, P < 0.001, CL with C2-C7 SVA (r =  − 0.395, P < 0.001, mJOA with age (r =  − 0.274, P < 0.001, mJOA with C2–C7 SVA (r =  − 0.219, P < 0.001 and mJOA with T1S(r =  − 0.171, p = 0.013. Linear regression analysis showed that C2–C7 SVA was the predictor of CL (adjusted R2 = 0.152, P < 0.001 and multiple linear regression showed that age combined with C

  15. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    International Nuclear Information System (INIS)

    Souza, L.T.; Kowalski, T.W.; Collares, M.V.M.; Félix, T.M.

    2013-01-01

    Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil

  16. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    Directory of Open Access Journals (Sweden)

    L.T. Souza

    2013-08-01

    Full Text Available Nonsyndromic oral clefts (NSOC are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp, 0.169 (173 bp, 0.096 (171 bp and 0.67 (169 bp. A transmission disequilibrium test with a family-based association test (FBAT software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005. These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

  17. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    Energy Technology Data Exchange (ETDEWEB)

    Souza, L.T. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Programa de Pós-Graduaçãoo em Saúde da Criança e do Adolescente, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Kowalski, T.W. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Collares, M.V.M. [Universidade Federal do Rio Grande do Sul, Departamento de Cirurgia, Porto Alegre, RS, Brasil, Departamento de Cirurgia, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Félix, T.M. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Programa de Pós-Graduaçãoo em Saúde da Criança e do Adolescente, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brasil, Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS (Brazil)

    2013-08-10

    Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

  18. A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations.

    Science.gov (United States)

    Pang, Xiuhong; Chai, Yongchuan; He, Longxia; Chen, Penghui; Wang, Xiaowen; Li, Lei; Jia, Huan; Wu, Hao; Yang, Tao

    2015-12-01

    To investigate the genetic cause of the patients with non-syndromic enlarged vestibular aqueduct (EVA) but without bi-allelic SLC26A4 mutations. Presence of a homozygous genomic deletion was detected in a Chinese Han deaf patient (D1467-1) who failed to amplify the first three exons of SLC26A4. The breakpoints of the deletion were fine-mapped and revealed by PCR amplification and sequencing. This deletion was subsequently screened in 22 Chinese Han EVA probands with mono-allelic SLC26A4 mutations. The possible founder effect of the newly identified genomic deletion was evaluated by haplotype analysis. A homozygous c.-2071_307+3801del7666 deletion of SLC26A4 was identified in patient D1467-1. This novel genomic deletion was subsequently identified in 18% (4/22) of the Chinese Han EVA probands with mono-allelic SLC26A4 mutations. Haplotype analysis showed that this genomic deletion is likely a founder mutation in Chinese Hans. Our results suggested that the cryptic c.-2071_307+3801del7666 deletion of SLC26A4 is relatively frequent in Chinese Han non-syndromic EVA patients without bi-allelic SLC26A4 mutations. Screening of this genomic deletion should be incorporated into the routine DNA testing of SLC26A4 in Chinese Hans. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  19. Normal development of brainstem in childhood. Measurement of the area on mid-sagittal MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Kutomi, Kimiko [Teikyo Univ., Tokyo (Japan). Faculty of Medicine

    2005-05-01

    Developmental abnormality of brainstem is shown in pediatric patients with mental retardation, autism, periventricular leukomalacia, neurodegenerative disease, and so on. Our purpose here is to clarify the normal developmental pattern of the brainstem. We measured the area of tectum, midbrain tegmentum, pons, basis pontis and pontine tegmentum on mid-sagittal MR images in 111 children (newborn to 20 year old). Different growth patterns were shown in all parts of the brainstem. Tectum showed a subtle increase in area from the newborn to adult period, while midbrain tegmentum and pontine tegmenturn showed a mild and gradual increase in area. Pons and pontine tegmentum showed a rapid and prominent increase in area from newborn to infant period and gradual increase in area until the adult period. These different growth patterns seemed to be consistent with differences in the myelination cycles of the neuronal fibers, maturation of the nuclei and proliferation of glial cells in each part of the brainstem. Mid-sagittal MR imaging of the head is accurate and reproducible and is used conveniently in routine head MR study, making it very useful for the diagnosis of many central nervous diseases and anomalies. We believe that this new milestone provided in this study will be helpful in distinguishing normal children from those that have neurodegenerative disorders. (author)

  20. Normal development of brainstem in childhood. Measurement of the area on mid-sagittal MR imaging

    International Nuclear Information System (INIS)

    Kutomi, Kimiko

    2005-01-01

    Developmental abnormality of brainstem is shown in pediatric patients with mental retardation, autism, periventricular leukomalacia, neurodegenerative disease, and so on. Our purpose here is to clarify the normal developmental pattern of the brainstem. We measured the area of tectum, midbrain tegmentum, pons, basis pontis and pontine tegmentum on mid-sagittal MR images in 111 children (newborn to 20 year old). Different growth patterns were shown in all parts of the brainstem. Tectum showed a subtle increase in area from the newborn to adult period, while midbrain tegmentum and pontine tegmenturn showed a mild and gradual increase in area. Pons and pontine tegmentum showed a rapid and prominent increase in area from newborn to infant period and gradual increase in area until the adult period. These different growth patterns seemed to be consistent with differences in the myelination cycles of the neuronal fibers, maturation of the nuclei and proliferation of glial cells in each part of the brainstem. Mid-sagittal MR imaging of the head is accurate and reproducible and is used conveniently in routine head MR study, making it very useful for the diagnosis of many central nervous diseases and anomalies. We believe that this new milestone provided in this study will be helpful in distinguishing normal children from those that have neurodegenerative disorders. (author)

  1. Spelling Processes of Children With Nonsyndromic Cleft Lip and/or Palate: A Preliminary Study.

    Science.gov (United States)

    Lee, Karen Shi Mei; Young, Selena Ee-Li; Liow, Susan Jane Rickard; Purcell, Alison Anne

    2015-01-01

    Objective :  To compare the cognitive-linguistic processes underlying spelling performance of children with cleft lip and/or palate with those of typically developing children. Design :  An assessment battery including tests of hearing, articulation, verbal short-term and working memory, and phonological awareness, as well as word and nonword spelling, was administered to both groups. Participants :  A total of 15 children with nonsyndromic cleft lip and/or palate were case-matched by age and sex to 15 typically developing children. The children were aged between 6 and 8 years and were bilingual, with English the dominant language. Results :  Wilcoxon signed-rank tests revealed that the performance of children with cleft lip and/or palate was significantly poorer on phoneme deletion and nonword spelling (P spelling measures for the cleft lip and/or palate and typically developing groups. Conclusions :  Children with cleft lip and/or palate underachieve in phonological awareness and spelling skills. To facilitate early intervention for literacy problems, speech-language pathologists should routinely assess the cognitive-linguistic processing of children with cleft lip and/or palate, especially phonological awareness, as part of their case management protocols.

  2. DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.

    Science.gov (United States)

    Khan, Shahid Yar; Riazuddin, Saima; Shahzad, Mohsin; Ahmed, Nazir; Zafar, Ahmad Usman; Rehman, Atteeq Ur; Morell, Robert J; Griffith, Andrew J; Ahmed, Zubair M; Riazuddin, Sheikh; Friedman, Thomas B

    2010-01-01

    Genetic analysis of an inbred Pakistani family PKDF280, segregating prelingual severe to profound sensorineural hearing loss, provided evidence for a DFNB locus on human chromosome 9q34.3. Co-segregation of the deafness trait with marker D9SH159 was determined by a two-point linkage analysis (LOD score 9.43 at theta=0). Two additional large families, PKDF517 and PKDF741, co-segregate recessive deafness with markers linked to the same interval. Haplotype analyses of these three families refined the interval to 3.84 Mb defined by D9S1818 (centromeric) and D9SH6 (telomeric). This interval overlaps with the previously reported DFNB33 locus whose chromosomal map position has been recently revised and assigned to a new position on chromosome 10p11.23-q21.1. The nonsyndromic deafness locus on chromosome 9q segregating in family PKDF280 was designated DFNB79. We are currently screening the 113 candidate DFNB79 genes for mutations and have excluded CACNA1B, EDF1, PTGDS, EHMT1, QSOX2, NOTCH1, MIR126 and MIR602.

  3. A clinico-radiographic study to compare and co-relate sagittal condylar guidance determined by intraoral gothic arch tracing method and panoramic radiograph in completely edentulous patients.

    Science.gov (United States)

    Shetty, Sanath; Kunta, Mythili; Shenoy, Kamalakanth

    2018-01-01

    The purpose of this study was to compare and correlate sagittal condylar guidance determined by intraoral gothic arch tracing method and panoramic radiograph in edentulous patients. Twelve completely edentulous patients were selected by the inclusion and exclusion criteria. Conventional steps in the fabrication of complete denture till jaw relation were carried out. Intraoral gothic arch tracing and protrusive interocclusal records were obtained for each patient. Protrusive interocclusal record was used to program the Hanau Wide-Vue semi-adjustable articulator, thus obtaining the sagittal condylar guidance angle. Using RadiAnt DICOM software, on the orthopantomogram obtained for each patient in the study, two reference lines were drawn. The Frankfort's horizontal plane and the mean curvature line (joining the most superior and the inferior points on the glenoid fossa curvature) were drawn. The mean curvature line was extended to intersect the Frankfort's horizontal plane, thus obtaining the radiographic sagittal condylar guidance angle. The condylar guidance angles obtained by these two methods were compared and subjected to paired t -test. There was no statistically significant difference between the sagittal condylar guidance angles obtained between right and left sides with intraoral gothic arch tracing and radiographic methods ( P = 0.107 and 0.07, respectively). Within the limitations of this study, it was concluded that the protrusive condylar guidance angles obtained by panoramic radiograph may be used for programming semi-adjustable articulators.

  4. Incomplete oblique sagittal fractures of the dorsal cortex of the third metacarpal bone in six horses

    International Nuclear Information System (INIS)

    Watt, B.C.; Foerner, J.J.; Haines, G.R.

    1998-01-01

    To describe incomplete oblique sagittal dorsal cortical fractures of the equine third metacarpal bone, their surgical repair, and subsequent performance of the horses. Retrospective examination of medical records and racing performance. Six Thoroughbred race horses, 2 to 4 years of age. Radiographic confirmation of all fractures preceded general anesthesia and surgical correction. Three fractures were treated by intracortical compression using screws placed in lag fashion, and five fractures were treated by osteostixis. Race records were reviewed for each horse to determine performance after surgery. Fractures were best observed on palmarodorsal radiographic projections. Three horses treated by intracortical compression returned to racing, but fracture recurred in one horse and was treated by osteostixis. This horse and the other three horses treated by osteostixis raced after surgery. Horses with incomplete oblique sagittal fractures of the dorsal cortex of the third metacarpal bone can race after surgical management of the fracture by screws placed in lag fashion or osteostixis. The authors' preferred surgical procedure for managing this fracture is osteostixis. Palmarodorsal radiographic projections of the third metacarpal bone are recommended in young Thoroughbred race horses suspected of having dorsal metacarpal stress fractures

  5. Anterior or posterior sagittal anorectoplasty without colostomy for low-type anorectal malformation: how to get a better outcome?

    NARCIS (Netherlands)

    Kuijper, Caroline F.; Aronson, Daniel C.

    2010-01-01

    Background/Purpose: Usually, anorectal malformations (ARM) are treated in 2 or 3 stages for fear of disturbed wound healing and subsequent damage to the anal sphincter complex. The aim of this study was to assess the feasibility, safety, advantages, and follow-up of an anterior or posterior sagittal

  6. Anterior or posterior sagittal anorectoplasty without colostomy for low-type anorectal malformation: how to get a better outcome?

    NARCIS (Netherlands)

    Kuijper, C.F.; Aronson, D.C.

    2010-01-01

    BACKGROUND/PURPOSE: Usually, anorectal malformations (ARM) are treated in 2 or 3 stages for fear of disturbed wound healing and subsequent damage to the anal sphincter complex. The aim of this study was to assess the feasibility, safety, advantages, and follow-up of an anterior or posterior sagittal

  7. Reproducibility and repeatability of a new computerized software for sagittal spinopelvic and scoliosis curvature radiologic measurements: Keops(®).

    Science.gov (United States)

    Maillot, C; Ferrero, E; Fort, D; Heyberger, C; Le Huec, J-C

    2015-07-01

    The purpose of this study was to evaluate the inter- and intra-observer variability of the computerized radiologic measurements using Keops(®) and to determine the bias between the software and the standard paper measurement. Four individuals measured all frontal and sagittal variables on the 30 X-rays randomly selected on two occasions (test and retest conditions). The Bland-Altman plot was used to determine the degree of agreement between the measurement on paper X-ray and the measurement using Keops(®) for all reviewers and for the two measures; the intraclass correlation coefficient (ICC) was calculated for each pair of analyses to assess interobserver reproducibility among the four reviewers for the same patient using either paper X-ray or Keops(®) measurement and finally, concordance correlation coefficient (rc) was calculated to assess intraobserver repeatability among the same reviewer for one patient between the two measure using the same method (paper or Keops(®)). The mean difference calculated between the two methods was minimal at -0, 4° ± 3.41° [-7.1; 6.4] for frontal measurement and 0.1° ± 3.52° [-6.7; 6.8] for sagittal measurement. Keops(®) has a better interobserver reproducibility than paper measurement for determination of the sagittal pelvic parameter (ICC = 0.9960 vs. 0.9931; p = 0.0001). It has a better intraobserver repeatability than paper for determination of Cobbs angle (rc = 0.9872 vs. 0.9808; p rc = 0.9981 vs. 0.9953; p plane and that the use of this software can be recommended for clinical application. Diagnostic, level III.

  8. Relationship between anthropometric measures and sagittal spinal curvatures in adult male handball players

    Directory of Open Access Journals (Sweden)

    Ameer Mariam Abdul-Moneem

    2017-12-01

    Full Text Available Purpose. Increasing anthropometric measures bring considerable spinal loads during sports practice, which inversely affects the adaptation abilities of the spinal structures; this in turn influences the spinal curvatures. The study was conducted to explore the relationship between anthropometric measures and sagittal spinal curvatures in handball players. Method. The total of 83 male handball players were divided into 2 groups, depending on their body height: group 1 (age, 23.62 ± 2.07 years consisted of 40 handball players with height above average, group 2 (age, 24.63 ± 2.58 years consisted of 43 handball players with height below average. The thoracic and lumbar curvatures and trunk height were measured with the Formetric III 4D spine and posture analysis system. Results. The thoracic kyphosis of group 1 was significantly higher than that of group 2 (p = 0.038, without a significant difference in lumbar lordosis (p = 0.312, and significant difference in the coefficient of compensation between thoracic kyphosis and lumbar lordosis (p = 0.026. Group 1 showed strong positive correlation between body height and kyphotic angle (r = 0.897, and moderate positive correlation with lordosis angle (r = 0.496. In group 2, there was weak positive correlation with kyphotic angle (r = 0.381, and weak negative correlation with lumbar lordosis angle (r = -0.355. Conclusions. Increasing body height of handball players is associated with bigger kyphotic and lordotic angles. Owing to frequent sagittal asymmetric overloading of the spine during handball training, exercises that help maintain good posture and correct the thoracic kyphosis are required, especially for taller players.

  9. Sagittal abdominal diameter shows better correlation with cardiovascular risk factors than waist circumference and BMI

    OpenAIRE

    de Souza, Natalia Cavalheri; de Oliveira, Erick Prado

    2013-01-01

    Background Obesity (abdominal adiposity) is a risk factor for cardiovascular diseases and the most used methods to measure the adiposity are body mass index (BMI), waist circumference (WC), and sagittal abdominal diameter (SAD). Objective To correlate BMI, WC, and SAD with biochemical parameters and blood pressure in adults. Methods A non-experimental exploratory/descriptive and cross sectional study was developed and it was assessed 133 subjects (59 men and 74 women) aging between 18 and 87?...

  10. Spinal sagittal contour affecting falls: cut-off value of the lumbar spine for falls.

    Science.gov (United States)

    Ishikawa, Yoshinori; Miyakoshi, Naohisa; Kasukawa, Yuji; Hongo, Michio; Shimada, Yoichi

    2013-06-01

    Spinal deformities reportedly affect postural instability or falls. To prevent falls in clinical settings, the determination of a cut-off angle of spinal sagittal contour associated with increase risk for falls would be useful for screening for high-risk fallers. The purpose of this study was to calculate the spinal sagittal contour angle associated with increased risk for falls during medical checkups in community dwelling elders. The subjects comprised 213 patients (57 men, 156 women) with a mean age of 70.1 years (range, 55-85 years). The upright and flexion/extension thoracic kyphosis and lumbar lordosis angles, and the spinal inclination were evaluated with SpinalMouse(®). Postural instability was evaluated by stabilometry, using the total track length (LNG), enveloped areas (ENV), and track lengths in the lateral and anteroposterior directions (X LNG and Y LNG, respectively). The back extensor strength (BES) was measured using a strain-gauge dynamometer. The relationships among the parameters were analyzed statistically. Age, lumbar lordosis, spinal inclination, LNG, X LNG, Y LNG, and BES were significantly associated with falls (Pfalls about lumbar lordosis angles revealed that angles of 3° and less were significant for falls. The present findings suggest that increased age, spinal inclination, LNG, X LNG, Y LNG, and decreased BES and lumbar lordosis, are associated with falls. An angle of lumbar lordosis of 3° or less was associated with falls in these community-dwelling elders. Copyright © 2012 Elsevier B.V. All rights reserved.

  11. Rat brain sagittal organotypic slice cultures as an ex vivo dopamine cell loss system.

    Science.gov (United States)

    McCaughey-Chapman, Amy; Connor, Bronwen

    2017-02-01

    Organotypic brain slice cultures are a useful tool to study neurological function as they provide a more complex, 3-dimensional system than standard 2-dimensional in vitro cell cultures. Building on a previously developed mouse brain slice culture protocol, we have developed a rat sagittal brain slice culture system as an ex vivo model of dopamine cell loss. We show that rat brain organotypic slice cultures remain viable for up to 6 weeks in culture. Using Fluoro-Gold axonal tracing, we demonstrate that the slice 3-dimensional cytoarchitecture is maintained over a 4 week culturing period, with particular focus on the nigrostriatal pathway. Treatment of the cultures with 6-hydroxydopamine and desipramine induces a progressive loss of Fluoro-Gold-positive nigral cells with a sustained loss of tyrosine hydroxylase-positive nigral cells. This recapitulates the pattern of dopaminergic degeneration observed in the rat partial 6-hydroxydopamine lesion model and, most importantly, the progressive pathology of Parkinson's disease. Our slice culture platform provides an advance over other systems, as we demonstrate for the first time 3-dimensional cytoarchitecture maintenance of rat nigrostriatal sagittal slices for up to 6 weeks. Our ex vivo organotypic slice culture system provides a long term cellular platform to model Parkinson's disease, allowing for the elucidation of mechanisms involved in dopaminergic neuron degeneration and the capability to study cellular integration and plasticity ex vivo. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. [Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia].

    Science.gov (United States)

    Dzhemileva, L U; Posukh, O L; Tazetdinov, A M; Barashkov, N A; Zhuravskiĭ, S G; Ponidelko, S N; Markova, T G; Tadinova, V N; Fedorova, S A; Maksimova, N R; Khusnutdinova, E K

    2009-07-01

    Mitochondrial DNA (mtDNA) mutations play an important role in etiology of hereditary hearing loss. In various regions of the world, patients suffer from nonsyndromic sensorineural hearing loss initiated by aminoglycoside antibiotics. Mutations that had been shown as pathogenetically important for hearing function disturbance were identified in mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes while pathogenic role of several DNA sequences requires additional studies. This work presents the results of studying the spectrum of mutations and polymorphic variations in mtDNA genes 12S rRNA and tRNA(Ser(UGN)) in 410 patients with nonsyndromal sensoneural hearing impairment/loss from the Volga Ural region, St Petersburg, Yakutia, and Altai and in 520 individuals with normal hearing, which represent several ethnic groups (Russians, Tatars, Bashkirs, Yakuts, Altaians) residing in the Russian Federation. Pathogenetically significant mutation A1555G (12S rRNA) was found in two families (from Yakutia and St Peresburg) with hearing loss, probably caused by treatment with aminoglucosides, and in the population sample of Yakuts with a frequency of 0.83%. Further research is needed to confirm the role in hearing impairment of mutations 961insC, 961insC(n), 961delTinsC(n), T961G, T1095C (12S rRNA) and G7444A, A7445C (tRNA(Ser(UGN revealed in the patients. In addition, in the patients and the population groups, polymorphic mt DNA variants were detected, which are characteristic also of other Eurasian populations both in spectrum and frequency.

  13. Upper midbrain profile sign and cingulate sulcus sign. MRI findings on sagittal images in idiopathic normal-pressure hydrocephalus, Alzheimer's disease, and progressive supranuclear palsy

    International Nuclear Information System (INIS)

    Adachi, Michito; Ohshima, Fumi; Kawanami, Toru; Kato, Takeo

    2006-01-01

    On magnetic resonance imaging (MRI) sagittal sections, we sometimes encounter abnormal aspects of the superior profile of the midbrain and the cingulate sulcus in patients with dementia. In this preliminary study, we refer to these findings as the ''upper midbrain profile sign'' and the cingulate sulcus sign.'' We prospectively evaluated the usefulness of these signs for the diagnosis of idiopathic normal-pressure hydrocephalus (iNPH), Alzheimer's disease (AD) and progressive supranuclear palsy (PSP). We evaluated the upper midbrain profile sign and the cingulate sulcus sign on MRI sagittal images obtained from 21 people with headaches but no neurological deficit (controls), 10 iNPH patients, 11 AD patients, and 5 PSP patients. The upper midbrain profile sign indicated a concave shape to the superior profile of the midbrain on mid-sagittal images, and the cingulate sulcus sign indicated a narrow, tight aspect of the posterior part of the cingulate sulcus on paramedian-sagittal images. These signs were never seen in any images from the controls. The upper midbrain profile sign was seen in 7 of 10 patients with iNPH, 5 of 11 with AD, and 3 of 5 with PSP. The cingulate sulcus sign was seen in all 10 patients with iNPH but was never seen in any patient with AD or PSP. The upper midbrain profile sign could support a diagnosis of PSP but cannot discriminate among iNPH, AD, and PSP. In contrast, the cingulate sulcus sign has a very high sensitivity for iNPH and should facilitate the distinction of iNPH from other dementias. In the clinical setting, it is momentous to evaluate these signs easily by one simple MRI sequence. (author)

  14. Sagittal-Plane Knee Moment During Gait and Knee Cartilage Thickness.

    Science.gov (United States)

    Schmitz, Randy J; Harrison, David; Wang, Hsin-Min; Shultz, Sandra J

    2017-06-02

      Understanding the factors associated with thicker cartilage in a healthy population is important when developing strategies aimed at minimizing the cartilage thinning associated with knee osteoarthritis progression. Thicker articular cartilage is commonly thought to be healthier cartilage, but whether the sagittal-plane biomechanics important to gait are related to cartilage thickness is unknown.   To determine the relationship of a weight-bearing region of the medial femoral condyle's cartilage thickness to sagittal gait biomechanics in healthy individuals.   Descriptive laboratory study.   Laboratory.   Twenty-eight healthy participants (15 women: age = 21.1 ± 2.1 years, height = 1.63 ± 0.07 m, weight = 64.6 ± 9.9 kg; 13 men: age = 22.1 ± 2.9 years, height = 1.79 ± 0.05 m, weight = 75.2 ± 9.6 kg).   Tibiofemoral angle (°) was obtained via goniometric assessment, thickness of the medial femoral condyle cartilage (mm) was obtained via ultrasound imaging, and peak internal knee-extensor moment (% body weight · height) was measured during 10 trials of over-ground walking at a self-selected pace. We used linear regression to examine the extent to which peak internal knee-extensor moment predicted cartilage thickness after accounting for tibiofemoral angle and sex.   Sex and tibiofemoral angle (12.3° ± 3.2°) were entered in the initial step as control factors (R 2 = 0.01, P = .872). In the final step, internal knee-extensor moment (1.5% ± 1.3% body weight · height) was entered, which resulted in greater knee-extensor moment being related to greater cartilage thickness (2.0 ± 0.3 mm; R 2 Δ = 0.31, PΔ = .003).   Individuals who walked with a greater peak internal knee-extensor moment during gait had a cartilage structure that is generally considered beneficial in a healthy population. Our study offers promising findings that a potentially modifiable biomechanical factor is associated with cartilage status in a healthy population

  15. Moyamoya disease and sagittal sinus thrombosis in a child with Down's syndrome

    International Nuclear Information System (INIS)

    Del-Rio Camacho, G.; Leal Orozco, A.; Camino Lopez, M.; Ruiz-Moreno, M.; Perez-Higueras, A.; Al-Assir, I.

    2001-01-01

    A girl with Down's syndrome, moyamoya disease and sagittal sinus thrombosis is described. She was diagnosed after acute neurological deterioration by MRI and angiography. Recombinant tissue plasminogen activator (r-TPA) was injected locally to recanalise the thrombus. The patient's condition significantly improved and she was discharged. After 2 years of follow-up the child remains asymptomatic. Moyamoya syndrome and cerebral venous thrombosis should not be overlooked as a cause of acute neurological deterioration in a child with Down's syndrome. MRA appears to be a safe and accurate alternative to traditional angiography for the diagnosis of moyamoya disease. Local fibrinolysis with r-TPA is the treatment of choice for cerebral venous thrombosis due to its safety and efficacy. (orig.)

  16. Emergency surgical management of traumatic superior sagittal sinus injury: An unusual case

    Directory of Open Access Journals (Sweden)

    Sudhansu Sekhar Mishra

    2012-01-01

    Full Text Available Head injuries following fall of heavy objects are not very uncommon in developing countries. However, compound depressed skull fracture with superior sagittal sinus (SSS laceration caused by a flying asbestos fragment in a stormy afternoon is an unusual mode of head injury. We report such an unusual case of compound depressed skull fracture by an asbestos fragment injuring the middle third of SSS and its successful surgical management in a 14-year-old child. The role of computed tomography (CT scan of head with 3D reconstruction is highlighted. Early steps taken in this case to check the profuse bleeding, which helped save the life of this boy is interesting to note.

  17. [Progress in studies on the genetic risk factors for nonsyndromic cleft lip or palate in China].

    Science.gov (United States)

    Huang, Y Q

    2017-04-09

    Cleft lip and palate is the most common congenital defects of oral and maxillofacial region in human beings. The etiology of this malformation is complex, with both genetic and environmental causal factors are involved. To provide a better understanding in the genetic etiology of cleft lip or palate, the author summarized recent years studies based on Chinese population. Those researches included validation of some candidate genes for cleft lip or palate, using genome wide association analysis which included six independent cohorts from China to elucidate the genetic architecture of non-syndromic cleft lip with or without cleft palate in Chinese population and finally found a new susceptibility locus. This locus was on the 16p13.3 (rs8049367) between CREBBP and ADCY9. It has been mentioned common methods of genetic analysis involved in the researches on cleft lip or palate in this paper. Furthermore, we try to discuss new methods to illustrate the etiology of cleft lip and palate that could provide more inspiration on future researches.

  18. Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.

    Science.gov (United States)

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R; Buxó, Carmen J; Castilla, Eduardo E; Christensen, Kaare; Deleyiannis, Frederic W B; Field, Leigh L; Hecht, Jacqueline T; Moreno, Lina; Orioli, Ieda M; Padilla, Carmencita; Vieira, Alexandre R; Wehby, George L; Feingold, Eleanor; Weinberg, Seth M; Murray, Jeffrey C; Marazita, Mary L

    2017-06-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. The "missing" heritability may be found in rare variants, copy number variants, or interactions. In this study, we investigated the role of low-frequency variants genotyped in 1995 cases and 1626 controls on the Illumina HumanCore + Exome chip. We performed two statistical tests, Sequence Kernel Association Test (SKAT) and Combined Multivariate and Collapsing (CMC) method using two minor allele frequency cutoffs (1% and 5%). We found that a burden of low-frequency coding variants in N4BP2, CDSN, PRTG, and AHRR were associated with increased risk of NSCL/P. Low-frequency variants in other genes were associated with decreased risk of NSCL/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL/P. © 2017 Wiley Periodicals, Inc.

  19. Superior Sagittal Sinus Thrombosis Complicating Typhoid Fever in a Teenager

    Directory of Open Access Journals (Sweden)

    P. O. Okunola

    2012-01-01

    Full Text Available Cerebral venous sinus (sinovenous thrombosis (CSVT is a rare life-threatening disorder in childhood that is often misdiagnosed. CSVT encompasses cavernous sinus thrombosis, lateral sinus thrombosis, and superior sagittal sinus thrombosis (SSST. We present an adolescent girl who was well until two weeks earlier when she had a throbbing frontal headache and fever with chills; she later had dyspnoea, jaundice, melena stool, multiple seizures, nuchal rigidity, and monoparesis of the right lower limb a day before admission. Urine test for Salmonella typhi Vi antigen was positive, and Widal reaction was significant. Serial cranial computerized tomography scans revealed an expanding hypodense lesion in the parafalcine region consistent with SSST or a parasagittal abscess. Inadvertent left parietal limited craniectomy confirmed SSST. She recovered completely with subsequent conservative management. Beyond neuropsychiatric complications of Typhoid fever, CSVT should be highly considered when focal neurologic deficits are present.

  20. Non-syndromic supernumerary teeth: report of a case with 6 supernumerary teeth

    Directory of Open Access Journals (Sweden)

    Taghibakhsh M

    2011-02-01

    Full Text Available "nBackground and Aims: Multiple supernumerary teeth are rare and often found in association with syndromes such as Gardner, Cleidocranial dysplasia and cleft lip and palate, with a much less chance for isolated"nnon-syndromic cases. The aim of this study was to report a case with 6 supernumerary teeth without syndromic association."nCase Report: The patient was a 33 year-old female, referred to oral diseases and diagnosis department with chief complaint of sensitivity to cold and hot food in right upper premolar region. Oral examination revealed 5 erupted lingually supernumerary teeth (four in mandibular and one in maxillary premolar region, respectively. Further panoramic radiography clarified an extra impacted tooth in the palatal region of left premolar maxillary area. All extra teeth had been appeared since the age of 17 during one year, as the patient claimed. Medical history and thorough clinical and paraclinical examinations were not significant except for the hypothyroidism, since 5 years ago. No other family member noticed to be the case. Based on our findings, a diagnosis of non-syndromic multiple supernumerary teeth was established."nConclusion: A thorough examination of each patient presented with supernumerary teeth, including panoramic and intraoral radiographic images may provide valuable information regarding accompanying syndromes and unerupted teeth. Early diagnosis is an essential step for orthodontic or surgical decisions making, preventing or avoiding worsening complications such as malocclusion, adjacent normal teeth delayed eruption or rotation, diasthema, cystic lesions and resorption of contiguous teeth.

  1. Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene.

    Science.gov (United States)

    Kim, Juwon; Jung, Jinsei; Lee, Min Goo; Choi, Jae Young; Lee, Kyung-A

    2015-06-19

    GJB2 alleles containing two cis mutations have been rarely found in non-syndromic hearing loss. Herein, we present a Korean patient with non-syndromic hearing loss caused by the R75Q cis mutation with V37I, which arose de novo in the father and was inherited by the patient. Biochemical coupling and hemichannel permeability assays were performed after molecular cloning and transfection of HEK293T cells. Student's t-tests or analysis of variance followed by Tukey's multiple comparison test was used as statistical analysis. Biochemical coupling was significantly reduced in connexin 26 (Cx26)-R75Q- and Cx26-V37I-transfected cells, with greater extent in Cx26-R75Q and Cx26-R75Q+V37I cells. Interestingly, our patient and his father with the mutations had more residual hearing compared with patients with the dominant mutation alone. Although the difference in hemichannel activity between R75Q alone and R75Q in combination with V37I failed to reach significance, it is of note that there is a possibility that V37I located upstream of R75Q might have the ability to ameliorate R75Q expression. Our study emphasizes the importance of cis mutations with R75Q, as the gene effect of R75Q can be modulated depending on the type of additional mutation.

  2. KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA in Chinese subjects.

    Directory of Open Access Journals (Sweden)

    Jiandong Zhao

    Full Text Available BACKGROUND: Nonsyndromic enlargement of vestibular aqueduct (NSEVA is an autosomal recessive hearing loss disorder that is associated with mutations in SLC26A4. However, not all patients with NSEVA carry biallelic mutations in SLC26A4. A recent study proposed that single mutations in both SLC26A4 and KCNJ10 lead to digenic NSEVA. We examined whether KCNJ10 excert a role in the pathogenesis of NSEVA in Chinese patients. METHODS: SLC26A4 was sequenced in 1056 Chinese patients with NSEVA. KCNJ10 was screened in 131 patients who lacked mutations in either one or both alleles of SLC26A4. Additionally, KCNJ10 was screened in 840 controls, including 563 patients diagnosed with NSEVA who carried biallelic SLC26A4 mutations, 48 patients with nonsyndromic hearing loss due to inner ear malformations that did not involve enlargement of the vestibular aqueduct (EVA, 96 patients with conductive hearing loss due to various causes, and 133 normal-hearing individuals with no family history of hereditary hearing loss. RESULTS: 925 NSEVA patients were found carrying two-allele pathogenic SLC26A4 mutations. The most frequently detected KCNJ10 mutation was c.812G>A (p.R271H. Compared with the normal-hearing control subjects, the occurrence rate of c.812G>A in NSEVA patients with lacking mutations in one or both alleles of SLC26A4 had no significant difference(1.53% vs. 5.30%, χ(2 = 2.798, p = 0.172, which suggested that it is probably a nonpathogenic benign variant. KCNJ10 c.1042C>T (p.R348C, the reported EVA-related mutation, was not found in patients with NSEVA who lacked mutations in either one or both alleles of SLC26A4. Furthermore, the normal-hearing parents of patients with NSEVA having two SLC26A4 mutations carried the KCNJ10 c.1042C>T or c.812G>A mutation and a SLC26A4 pathogenic mutation. CONCLUSION: SLC26A4 is the major genetic cause in Chinese NSEVA patients, accounting for 87.59%. KCNJ10 may not be a contributor to NSEVA in Chinese population. Other

  3. MR angiography of the carotid arteries in 3 D TOF-technique with sagittal ''double-slab'' acquisition using a new head-neck coil

    International Nuclear Information System (INIS)

    Link, J.; Mueller-Huelsbeck, S.; Heller, M.

    1996-01-01

    Purpose: The aim of the study was to assess the value of MR angiography (MRA) in sagittal technique compared to DSA in the evaluation of carotid artery stenosis. Methods: 80 Carotid arteries in 40 symptomatic patients were prospectively studied with DSA and MRA. MRA was carried out by means of 3D time-of-flight technique with a FISP sequence (T E 6 ms/T R 80 ms, flip angle 25 , FOV 240x210 mm, matrix 157x256 mm, in-plane resolution 1.34x0.94 mm, partition thickness 1.32 mm, slab thickness 45 mm, acquisition time 7 min) using a new head-neck coil. Data acquisition was performed in sagittal orientation with the 'double-slab' technique. Imaging quality of the extracranial carotid arteries and correctness of quantification of stenosis was performed. Results: Imaging quality was good at the origin of the carotid arteries in 65%, at the bifurcation region in 98% and near the skull base in 81%. The agreement of DSA and MRA was 96% of the normal arteries (24/25), 90% of the severe stenoses (28/31) and 100% of the occluded arteries (9/9). Conclusion: MRA in sagittal 'double-slab' technique is a noninvasive technique allowing to detect normal arteries and candidates for surgery with high degree of certainity. (orig.) [de

  4. Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation

    International Nuclear Information System (INIS)

    Wang Qiuju; Li Qingzhong; Han Dongyi; Zhao Yali; Zhao Lidong; Qian Yaping; Yuan Hu; Li Ronghua; Zhai Suoqiang; Young Wieyen; Guan Minxin

    2006-01-01

    We report here the clinical, genetic, and molecular characterization of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Five of nine matrilineal relatives had aminoglycoside-induced hearing loss. These matrilineal relatives exhibited variable severity and audiometric configuration of hearing impairment, despite sharing some common features: being bilateral and having sensorineural hearing impairment. Sequence analysis of mitochondrial DNA (mtDNA) in the pedigree identified 16 variants and the homoplasmic 12S rRNA C1494T mutation, which was associated with hearing loss in the other large Chinese family. In fact, the occurrence of the C1494T mutation in these genetically unrelated pedigrees affected by hearing impairment strongly indicated that this mutation is involved in the pathogenesis of aminoglycoside-induced and nonsyndromic hearing loss. However, incomplete penetrance of hearing loss indicated that the C1494T mutation itself is not sufficient to produce a clinical phenotype but requires the involvement of modifier factors for the phenotypic expression. Those mtDNA variants, showing no evolutional conservation, may not have a potential modifying role in the pathogenesis of the C1494T mutation. However, nuclear background seems to contribute to the phenotypic variability of matrilineal relatives in this family. Furthermore, aminoglycosides modulate the expressivity and penetrance of deafness associated with the C1494T mutation in this family

  5. Spinal curves and health: a systematic critical review of the epidemiological literature dealing with associations between sagittal spinal curves and health

    DEFF Research Database (Denmark)

    Christensen, Sanne Toftgaard; Hartvigsen, Jan

    2008-01-01

    The purposes of this study were to (1) determine whether sagittal spinal curves are associated with health in epidemiological studies, (2) estimate the strength of such associations, and (3) consider whether these relations are likely to be causal....

  6. Sagittal spino-pelvic adjustment in severe Lenke 1 hypokyphotic adolescent idiopathic scoliosis patients.

    Science.gov (United States)

    Vidal, Christophe; Mazda, Keyvan; Ilharreborde, Brice

    2016-10-01

    The human standing position requires permanent reciprocal spino-pelvic adjustments to obtain a dynamic and economic posture. This study focuses on a hypokyphotic Lenke 1 adolescent idiopathic scoliosis (AIS) patients cohort and points out their particular lumbo-pelvic adaptive mechanisms to maintain a neutral sagittal balance. Preoperative retrospective analysis of prospectively collected data on a monocentric cohort of 455 AIS patients planned for corrective surgery. Radiological low-dose system coupled with a validated clinical routine software allowed to obtain data from eighty-four hypokyphotic [thoracic kyphosis (TK) <20°] Lenke 1 patients and were separately analyzed. Bilateral Student and one-way ANOVAs were conducted for statistical analysis. Mean Cobb angle was 46.3° (±7.2), TK was 11° (±7.1), sagittal vertical axis (SVA) was -10.1 mm (±30.9), pelvic incidence (PI) was 55.7° (±12.9). Fifty percents of patients were posteriorly imbalanced. Among them, patients with a low PI used an anteversion of their pelvis [indicated by a high pelvic tilt (PT) angle] but were not able to increase their lumbar lordosis (LL) to minimize the posterior spinal shift. Hypokyphotic Lenke 1 AIS patients use lumbo-pelvic compensatory mechanisms to maintain their global balance with a poor effectiveness. Subjects with a low PI have a restricted range of LL adaptation. Attention should be paid during surgical planning not to overcorrect lordosis in the instrumented levels in case of non-selective fusion, that may induce posterior shift of the fusion mass and expose to junctional syndromes and poor functional outcomes in this particular patients.

  7. Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment

    Directory of Open Access Journals (Sweden)

    Hong-Yang Wang

    2015-01-01

    Full Text Available Background: There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI, including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI. Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause. This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI. Methods: To decipher the genetic code of a Chinese family (family 686 with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing. These techniques were done on samples obtained from this family over a period of 10 years. Results: We identified a pathogenic missense mutation, c. 2081G>A (p.G694E, in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL. The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members. In one of the two patients, we confirmed that the compound heterozygosity for p.Y136FNx01 and p.G45E in the GJB2 gene may account for the phenotype shown in this patient. Conclusions: We identified the co-occurrence of two genetic causes in family 686. The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL. It is necessary to combine various genes screening methods, especially for some unconventional cases.

  8. Evolution of the postoperative sagittal spinal profile in early-onset scoliosis: is there a difference between rib-based and spine-based growth-friendly instrumentation?

    Science.gov (United States)

    Chen, Zhonghui; Li, Song; Qiu, Yong; Zhu, Zezhang; Chen, Xi; Xu, Liang; Sun, Xu

    2017-12-01

    OBJECTIVE Although the vertical expandable prosthetic titanium rib (VEPTR) and growing rod instrumentation (GRI) encourage spinal growth via regular lengthening, they can create different results because of their different fixation patterns and mechanisms in correcting scoliosis. Previous studies have focused comparisons on coronal plane deformity with minimal attention to the sagittal profile. In this retrospective study, the authors aimed to compare the evolution of the sagittal spinal profile in early-onset scoliosis (EOS) treated with VEPTR versus GRI. METHODS The data for 11 patients with VEPTR and 22 with GRI were reviewed. All patients had more than 2 years' follow-up with more than 2 lengthening procedures. Radiographic measurements were performed before and after the index surgery and at the latest follow-up. The complications in both groups were recorded. RESULTS Patients in both groups had similar diagnoses, age at the index surgery, and number of lengthening procedures. The changes in the major coronal Cobb angle and T1-S1 spinal height were not significantly different between the 2 groups. Compared with the GRI group, the VEPTR group had less correction in thoracic kyphosis (23% ± 12% vs 44% ± 16%, p GRI: 8° ± 5°, p = 0.569), the incidence of proximal junctional kyphosis was relatively lower in the VEPTR group (VEPTR: 18.2% vs GRI: 22.7%). No significant changes in the spinopelvic parameters were observed, while the sagittal vertical axis showed a tendency toward a neutral position in both groups. The overall complication rate was higher in the VEPTR group than in the GRI group (72.7% vs 54.5%). CONCLUSIONS The VEPTR had coronal correction and spinal growth results similar to those with GRI. In the sagittal plane, however, the VEPTR was not comparable to the GRI in controlling thoracic kyphosis. Thus, for hyperkyphotic EOS patients, GRI is recommended over VEPTR.

  9. Stabilisation of sagittal split advancement osteotomies with miniplates: a prospective, multicentre study with two-year follow-up. Part I. Clinical parameters.

    NARCIS (Netherlands)

    Borstlap, W.A.; Stoelinga, P.J.W.; Hoppenreijs, T.J.M.; Hof, M.A. van 't

    2004-01-01

    The principal aim of this study was to assess the postoperative stability of bilateral sagittal split osteotomies (BSSO) using two miniplates. Part I reports on the clinical results including treatment characteristics, nerve functions, TMJ function, occlusional relapse and patient satisfaction. This

  10. How does sagittal imbalance affect the appropriateness of surgical indications and selection of procedure in the treatment of degenerative scoliosis? Findings from the RAND/UCLA Appropriate Use Criteria study.

    Science.gov (United States)

    Daubs, Michael D; Brara, Harsimran S; Raaen, Laura B; Chen, Peggy Guey-Chi; Anderson, Ashaunta T; Asch, Steven M; Nuckols, Teryl K

    2018-05-01

    Degenerative lumbar scoliosis (DLS) is often associated with sagittal imbalance, which may affect patients' health outcomes before and after surgery. The appropriateness of surgery and preferred operative approaches has not been examined in detail for patients with DLS and sagittal imbalance. The goals of this article were to describe what is currently known about the relationship between sagittal imbalance and health outcomes among patients with DLS and to determine how indications for surgery in patients with DLS differ when sagittal imbalance is present. This study included a literature review and an expert panel using the RAND/University of California at Los Angeles (UCLA) Appropriateness Method. To develop appropriate use criteria for DLS, researchers at the RAND Corporation recently employed the RAND/UCLA Appropriateness Method, which involves a systematic review of the literature and multidisciplinary expert panel process. Experts reviewed a synopsis of published literature and rated the appropriateness of five common operative approaches for 260 different clinical scenarios. In the present work, we updated the literature review and compared panelists' ratings in scenarios where imbalance was present versus absent. This work was funded by the Collaborative Spine Research Foundation, a group of surgical specialty societies and device manufacturers. On the basis of 13 eligible studies that examined sagittal imbalance and outcomes in patients with DLS, imbalance was associated with worse functional status in the absence of surgery and worse symptoms and complications postoperatively. Panelists' ratings demonstrated a consistent pattern across the diverse clinical scenarios. In general, when imbalance was present, surgery was more likely to be appropriate or necessary, including in some situations where surgery would otherwise be inappropriate. For patients with moderate to severe symptoms and imbalance, a deformity correction procedure was usually appropriate

  11. Subjective and objective image qualities: a comparison of sagittal T2 weighted spin-echo and turbo-spin-eco sequences in magnetic resonance imaging of the spine by use of a subjective ranking system

    Energy Technology Data Exchange (ETDEWEB)

    Goerres, G. [Institut fuer diagnostische Radiologie, Departement Radiologie, Universitaetskliniken, Kantonsspital Basel (Switzerland); Mader, I. [Radiologische Gemeinschaftspraxis Dres. Siems, Grossmann, Bayreuth (Germany); Proske, M. [Klinikum Rosenheim (Germany). Inst. fuer Diagnostische Radiologie

    1998-12-31

    We evaluated the subjective image impression of two different magnetic resonance (MR) sequences by using a subjective ranking system. This ranking system was based on 20 criteria describing several tissue characteristics such as the signal intensity of normal anatomical structures and the changes of signal intensities and shape of lesions as well as artefacts. MR of the vertebral spine was performed in 48 female and 52 male patients (mean age 44.8 years) referred consecutively for investigation of a back problem. Ninety-six pathologies were found in 82 patients. Sagittal and axial T1 weighted spin-echo before and after administration of Gadolinium (Gd-DOTA), and sagittal T2 weighted spin-echo (T2wSE) and Turbo-spin-echo (TSE) sequences were performed by means of surface coils. Using the subjective ranking system the sagittal T2wSE and sagittal TSE were compared. Both sequences were suitable for identification of normal anatomy and pathologic changes and there was no trend for increased detection of disease by one imaging sequence over the other. We found that sagittal TSE sequences can replace sagittal T2wSE sequences in spinal MR and that artefacts at the cervical and lumbar spine are less frequent using TSE, thus confirming previous studies. In this study, our ranking system reveiled, that there are differences between the subjective judgement of image qualities and objective measurement of SNR. However, this approach may not be helpful to compare two different MR sequences as it is limited to the anatomical area investigated and is time consuming. The subjective image impression, i.e. the quality of images, may not always be represented by physical parameters such as a signal-to-noise ratio (SNR), radiologists should try to define influences of image quality also by subjective parameters. (orig.)

  12. Nkx2-5 Mutations in Patients With Nonsyndromic Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Fariborz Soheili

    2016-01-01

    Full Text Available Background Congenital heart diseases (CHD are the most common of all birth defects, affecting nearly 0.9% of all live births. Nkx2-5 mutations were reported to cause CHD but data in Kurdish populations of Iran are limited. Objectives In this experimental study, we performed high resolution melt (HRM mutation scanning of Nkx2-5 exons of non-syndrome patients. Patients and Methods Thirty nine patients with atrial septal defect and 57 patients with ventricular septal defect, 4 patients possessing both defects as case groups and 50 healthy controls. Then we grouped samples according to HRM graph and sequenced several samples from each group. Results HRM analysis showed 2 deviated curves for exon 1 and one group for exon 2A and exon 2B. Then, 2 samples of exon 1 that showed different HRM curves, 3 samples of another group from this exon and 5 samples of exon 2A, 2B and healthy controls were randomly sequenced. The results of sequencing confirmed the HRM analysis, and one polymorphism (A65G was identified in 2 atrial septal defects with deviated curves. Conclusions The environmental and effective factors on the heart development within embryonic evolution as well as the possibility of the existence of the mutation in coding genes of the other cardiac transcription factors such as GATA4 and TBX5 can be the reasons for the lack of the pathogenic mutation in this study. It is suggested in further related studies to investigate normal and abnormal cardiac tissue samples of these studied patients and coding genes of the other cardiac transcription factors.

  13. Os acromiale: evaluation of markers for identification on sagittal and coronal oblique MR images

    Energy Technology Data Exchange (ETDEWEB)

    Uri, D.S. [University of Michigan, Dept. of Radiology, Ann Arbor, MI (United States)]|[Hospital of the University of Pennsylvania, Department of Radiology, Philadelphia (United States); Kneeland, J.B. [Hospital of the University of Pennsylvania, Department of Radiology, Philadelphia (United States); Herzog, R. [Hospital of the University of Pennsylvania, Department of Radiology, Philadelphia (United States)

    1997-01-01

    An os acromiale is a developmental abnormality of ossification involving the anterior acromion which may contribute to impingement and rotator cuff disease. When axial MR sections do not include the acromioclavicular joint, the diagnosis of this often subtle abnormality will rest on its recognition on oblique coronal and sagittal images where it mimics the acromioclavicular joint. The identification of this anomaly is important as it frequently alters the type of surgical procedure utilized in symptomatic patients. We evaluate several imaging features which may be used to diagnose an os acromiale in these cases. (orig.). With 5 figs.

  14. Os acromiale: evaluation of markers for identification on sagittal and coronal oblique MR images

    International Nuclear Information System (INIS)

    Uri, D.S.; Kneeland, J.B.; Herzog, R.

    1997-01-01

    An os acromiale is a developmental abnormality of ossification involving the anterior acromion which may contribute to impingement and rotator cuff disease. When axial MR sections do not include the acromioclavicular joint, the diagnosis of this often subtle abnormality will rest on its recognition on oblique coronal and sagittal images where it mimics the acromioclavicular joint. The identification of this anomaly is important as it frequently alters the type of surgical procedure utilized in symptomatic patients. We evaluate several imaging features which may be used to diagnose an os acromiale in these cases. (orig.). With 5 figs

  15. The significance of faint visualization of the superior sagittal sinus in brain scintigraphy for the diagnosis of brain death

    International Nuclear Information System (INIS)

    Bisset, R.; Sfakianakis, G.; Ihmedian, I.; Holzman, B.; Curless, R.; Serafini, A.

    1985-01-01

    Brain death is associated with cessation of blood flow to the brain. Tc-99m brain flow studies are used as a laboratory confirmatory test for the establishment of the diagnosis of brain death. Criteria for the diagnosis of cessation of blood flow to the brain are 1) visualization of carotid artery activity in the neck of the patient and 2) no visualization of activity in the distribution of the anterior and middle cerebral arteries. The authors noticed that in a significant number of patients, although there was no visualization of arterial blood flow to the brain the static images demonstrated faint accumulation of activity in the region of the superior sagittal sinus (SSS). In a four year period 212 brain flow studies were performed in 154 patients for diagnosis of brain death; of them 137 studies (65%) showed no evidence of arterial flow. In 103 out of the 137 studies (75%) there was no visualization of the SSS; in the remaining 34 studies (3l patients) however three patterns of faint activity attributed to partial and or faint visualization of the SSS could be recognized at the midline of the immediate anterior static view: a) linear from the cranial vault floor up b) disk shaped at the apex of the vault and c) disk shaped at the apex tailing caudad. All of the 3l patients in this group satisfied brain death criteria within four days of the last study which showed faint visualization of the superior sagittal sinus. The authors conclude that even in the presence of a faint visualization of the superior sagittal sinus on static post brain flow scintigraphy, the diagnosis of cessation of blood flow to the brain can be made if there is no evidence of arterial blood flow

  16. Effect of trunk sagittal attitude on shoulder, thorax and pelvis three-dimensional kinematics in able-bodied subjects during gait.

    Directory of Open Access Journals (Sweden)

    Alberto Leardini

    Full Text Available It has been shown that an original attitude in forward or backward inclination of the trunk is maintained at gait initiation and during locomotion, and that this affects lower limb loading patterns. However, no studies have shown the extent to which shoulder, thorax and pelvis three-dimensional kinematics are modified during gait due to this sagittal inclination attitude. Thirty young healthy volunteers were analyzed during level walking with video-based motion analysis. Reflecting markers were mounted on anatomical landmarks to form a two-marker shoulder line segment, and a four-marker thorax and pelvis segments. Absolute and relative spatial rotations were calculated, for a total of 11 degrees of freedom. The subjects were divided into two groups of 15 according to the median of mean thorax inclination angle over the gait cycle. Preliminary MANOVA analysis assessed whether gender was an independent variable. Then two-factor nested ANOVA was used to test the possible effect of thorax inclination on body segments, planes of motion and gait periods, separately. There was no significant difference in all anthropometric and spatio-temporal parameters between the two groups, except for subject mass. The three-dimensional kinematics of the thorax and pelvis were not affected by gender. Nested ANOVA revealed group effect in all segment rotations apart those at the pelvis, in the sagittal and frontal planes, and at the push-off. Attitudes in sagittal thorax inclination altered trunk segments kinematics during gait. Subjects with a backward thorax showed less thorax-to-pelvis motion, but more shoulder-to-thorax and thorax-to-laboratory motion, less motion in flexion/extension and in lateral bending, and also less motion during push-off. This contributes to the understanding of forward propulsion and sideways load transfer mechanisms, fundamental for the maintenance of balance and the risk of falling.

  17. Dorsal buccal mucosal graft urethroplasty by a ventral sagittal urethrotomy and minimal-access perineal approach for anterior urethral stricture.

    Science.gov (United States)

    Gupta, N P; Ansari, M S; Dogra, P N; Tandon, S

    2004-06-01

    To present the technique of dorsal buccal mucosal graft urethroplasty through a ventral sagittal urethrotomy and minimal access perineal approach for anterior urethral stricture. From July 2001 to December 2002, 12 patients with a long anterior urethral stricture had the anterior urethra reconstructed, using a one-stage urethroplasty with a dorsal onlay buccal mucosal graft through a ventral sagittal urethrotomy. The urethra was approached via a small perineal incision irrespective of the site and length of the stricture. The penis was everted through the perineal wound. No urethral dissection was used on laterally or dorsally, so as not to jeopardize the blood supply. The mean (range) length of the stricture was 5 (3-16) cm and the follow-up 12 (10-16) months. The results were good in 11 of the 12 patients. One patient developed a stricture at the proximal anastomotic site and required optical internal urethrotomy. Dorsal buccal mucosal graft urethroplasty via a minimal access perineal approach is a simple technique with a good surgical outcome; it does not require urethral dissection and mobilization and hence preserves the blood supply.

  18. Grading system for migrated lumbar disc herniation on sagittal magnetic resonance imaging. An agreement study

    Energy Technology Data Exchange (ETDEWEB)

    Ahn, Y.; Jeong, T.S. [Gachon University Gil Medical Center, Department of Neurosurgery, Incheon (Korea, Republic of); Lim, T.; Jeon, J.Y. [Gachon University Gil Medical Center, Department of Radiology, Incheon (Korea, Republic of)

    2018-01-15

    Migrated lumbar disc herniations (LDHs) in the sagittal plane are common. Disc migration grading can be applied as a useful measurement tool in the diagnosis, treatment, and outcome evaluation of migrated LDH. No study has evaluated the reliability of migrated LDH grading. We evaluated the reliability and functionality of the current magnetic resonance imaging (MRI) grading system for migrated LDH. We assessed a six-level grading system developed based on sagittal MRI and graded according to the direction (rostral and caudal) and degree (low, high, and very high) of disc migration. One-hundred and one migrated LDHs treated with minimally invasive endoscopic discectomy were analyzed independently by two experienced radiologists. Intraobserver and interobserver agreements were assessed by kappa statistics. The most common migrated LDH grade was grade 4 (30.94%; caudal, low-grade migration). Rostral and caudal migrations were more common in the upper and lower lumbar levels, respectively. Interobserver agreement in the grading of migrated LDH was good at both the first (kappa = 0.737) and second assessment (kappa = 0.657). The intraobserver agreement for reader 1 was very good (kappa = 0.827) and for reader 2 was good (kappa = 0.620). The current grading system for migrated LDH was found to be reliable and functional with good interobserver and intraobserver agreement. It may be useful in the interpretation of disc migration patterns and outcomes of various minimally invasive surgical procedures. (orig.)

  19. Increased detection rate of syringomyelia by whole spine sagittal magnetic resonance images: Based on the data from military conscription of Korean young males

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Myoung Seok; Oh, Chang Hyun [Seoul Regional Military Manpower Administration, Seoul (Korea, Republic of); Yoon, Seung Hwan; Park, Hyeong Chun; Park, Chong Oon; Kim, Yeo Ju [Inha Univ. Hospital/College of Medicine/Inha Univ., Incheon (Korea, Republic of)

    2012-09-15

    We compared the detection rate of syringomyelia according to the type of magnetic resonance (MR) images among the Korean military conscription. Among the total of 238910 examinees (males aged 18 to 32 years old) from January 2008 to December 2011, the examinees with conventional single lesion MR images (cervical, thoracic, and lumbar) with and without whole spine sagittal T2 weighted MR images (WSST2I) totaled 1206 cases, and syringomyelia was observed in 24 cases. The detection rate of syringomyelia according to the MR protocol (the presence of WSST2I or not) was done through analysis by annually and the clinical characters of syringomyelia was reviewed. The estimated prevalence of syringomyelia was approximately 10.0 cases per 100000 people. The detection rate was increased annually when the WSST2I proportion was increased (from 3.4 to 14.9 cases per 100000 persons, r = 0.939, p = 0.018). Clinical character of syringomyelia was ambiguous with other spinal diseases. The most affected spinal level was C5 to C7 (83%), and most cases were non communicating syringomyelia with benign central canal widening (79%). Whole spine sagittal MR image is useful to detect coexisting spinal diseases such as syringomyelia, and most syringomyelia in young males was benign hydromyelia. A whole spine sagittal MR image is recommended to increase the detection of syringomyelia.

  20. Influence of a variation in the position of the arms on the sagittal connection of the gravity line with the spinal structures.

    Science.gov (United States)

    Legaye, Jean; Duval-Beaupere, Ginette

    2017-11-01

    To evaluate the influence of the position of the arms on the location of the body's gravity line. The sagittal balance of the pelvi-spinal unit is organized so that the gravity line is localized in a way that limits the mechanical loads and the muscle efforts. This position of the gravity line was analyzed in vivo, in standing position, the arms dangling, by the barycentremeter, a gamma rays scanner. Then, several teams had the same purpose but using a force platform combined with radiographies. Their results differed significantly among themselves and with the data of the barycentremetry. However, in these studies, the positions of the arms varied noticeably, either slightly bent forwards on a support, or the fingers on the clavicles or on the cheeks. We estimated, for each varied posture of the arms, the sagittal coordinates of the masses of the upper limbs and their influence on the anatomical position of the gravity line of the whole body. Using a simple equation and the data of the barycentremeter, we observed that the variations in the location of the gravity line were proportionally connected to the changes of the sagittal position of the mass of the upper limbs induced by the various positions of the arms. We conclude in a validation of the data of the barycentremeter, as well as of the data obtained by the force platforms as long as the artifact of the position of the arms is taken into account.

  1. [Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate].

    Science.gov (United States)

    Zhang, Li; Tang, Jun-Ling; Liang, Shang-Zheng

    2008-06-01

    Muscle segment homeobox gene (MSX)1 has been proposed as a gene in which mutations may contribute to nonsyndromic cleft lip with or without cleft palate (NSCL/P). To study MSX1 polymorphisms in NSCL/ P by means of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP), and investigate the association of MSX1 exons 1 polymorphisms with NSCL/P. DNA were extracted from blood samples from NSCL/P and unrelated normal subjects. Genome DNA from peripheral leukocyte with these blood samples were extracted, which was used as template to amplify desired gene fragment of MSX1 exons 1 by means of polymerase chain reaction (PCR). The PCR products were examined by single-strand conformation polymorphism (SSCP). The MSX1 exons 1 polymorphisms were examined by sequencing if mutations were found. MSX1 genes of exon 1 mutation was not been found in the NSCL/P and unrelated normal subjects by SSCP. No correlation between MSX1 exon 1 and NSCL/P was found. MSX1 exon 1 may not be a key gene (susceptibility gene) in NSCL/P.

  2. REPRODUCIBILITY AND EQUIVALENCE OF COBBMETER APPLICATION IN THE SAGITTAL EVALUATION OF THE SPINE

    Directory of Open Access Journals (Sweden)

    Luis Marchi

    Full Text Available ABSTRACT Objective: This study aims to evaluate the reliability and equivalency of using the Cobbmeter application for iPhone compared to the manual measurement method in the analysis of the sagittal spinal alignment. Methods: Cross-sectional, prospective, single-center study that had 20 panoramic radiographs of the spine in lateral view, in a neutral standing position, analyzed blindly and randomly by three independent examiners in three different times. The parameters were pelvic incidence (PI, pelvic tilt (PT and lumbar lordosis (LL. The statistical analysis was performed to measure the intraclass correlation coefficient (ICC between the two measurement methods, in addition to measuring the intra and inter-evaluators reliability. Results: For reproducibility analysis, the intra-evaluators ICC using the application resulted in a Kappa (K of 0.975 for the evaluation of pelvic incidence (PI evaluation. For pelvic tilt (PT, the K value obtained was 0.981 and the K measured for lumbar lordosis (LL analysis was 0.987. The inter-evaluators evaluation of reproducibility using the application resulted in a K value of 0.917 for PI, 0.930 for PT and 0.951 for LL. For the assessment of equivalency of methods, comparing the application to the standard method, with a goniometer and dermographic pencil, the K value found for PI was 0.873, for PV was 0.939 and for LL was 0.914. All values were significant (p<0.001 against the null hypothesis. Conclusion: This smartphone application is a valid and reliable instrument for measuring the angle involved in the sagittal balance of the spine. Furthermore, the results show that its applicability is not inferior to the manual method with goniometer and dermographic pencil.

  3. Three-dimensional computed tomographic evaluation of bilateral sagittal split osteotomy lingual fracture line and le fort I pterygomaxillary separation in orthognathic surgery using cadaver heads: ultrasonic osteotome versus conventional saw.

    Science.gov (United States)

    Dammous, Sophie; Dupont, Quentin; Gilles, Roland

    2015-06-01

    The purpose of this study was to observe the quality of the fracture line on the lingual side of the mandible after sagittal split osteotomy and the quality of pterygomaxillary separation after Le Fort I osteotomy using the BoneScalpel ultrasonic osteotome. Bimaxillary procedures, according to the standard protocol, were performed using 10 fresh cadaver heads. The ultrasonic osteotome was used in the study group, and a reciprocating saw was used in the control group. Three-dimensional reconstructions of postoperative computed tomographic scans were obtained. The lingual ramus fracture pattern and the pterygomaxillary separation pattern were observed, classified, and compared. Postoperative dissections of the skulls were performed to assess the integrity of the infra-alveolar nerve and the descending palatine artery. No significant differences were found in the cutting time of bone between the BoneScalpel and the sagittal saw. Of the sagittal split osteotomies in the study group, 90% showed a good pattern (vertical pattern of fracture line extending to the inferior border of the mandible running behind the mandibular canal) compared with 50% of the sagittal split osteotomies in the control group. Ideal separation of the pterygoid plates without fractures was observed in 80% of the Le Fort I osteotomies in the study group compared with 50% of the osteotomies in the control group. High-level fractures occurred in 30% of cases in the control group compared with none in the study group. The integrities of the infra-alveolar nerve and the descending palatine artery were preserved in all cases. Use of the ultrasonic BoneScalpel did not require more time than the conventional method. An improved pattern of lingual fracture lines in mandibular sagittal split osteotomy procedures and the pattern of pterygomaxillary separation in Le Fort I osteotomy procedures were observed. Copyright © 2015 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc

  4. Observation of sagittal X-ray diffraction by surface acoustic waves in Bragg geometry.

    Science.gov (United States)

    Vadilonga, Simone; Zizak, Ivo; Roshchupkin, Dmitry; Evgenii, Emelin; Petsiuk, Andrei; Leitenberger, Wolfram; Erko, Alexei

    2017-04-01

    X-ray Bragg diffraction in sagittal geometry on a Y-cut langasite crystal (La 3 Ga 5 SiO 14 ) modulated by Λ = 3 µm Rayleigh surface acoustic waves was studied at the BESSY II synchrotron radiation facility. Owing to the crystal lattice modulation by the surface acoustic wave diffraction, satellites appear. Their intensity and angular separation depend on the amplitude and wavelength of the ultrasonic superlattice. Experimental results are compared with the corresponding theoretical model that exploits the kinematical diffraction theory. This experiment shows that the propagation of the surface acoustic waves creates a dynamical diffraction grating on the crystal surface, and this can be used for space-time modulation of an X-ray beam.

  5. Creating a normative database of age-specific 3D geometrical data, bone density, and bone thickness of the developing skull: a pilot study.

    Science.gov (United States)

    Delye, Hans; Clijmans, Tim; Mommaerts, Maurice Yves; Sloten, Jos Vnder; Goffin, Jan

    2015-12-01

    Finite element models (FEMs) of the head are used to study the biomechanics of traumatic brain injury and depend heavily on the use of accurate material properties and head geometry. Any FEM aimed at investigating traumatic head injury in children should therefore use age-specific dimensions of the head, as well as age-specific material properties of the different tissues. In this study, the authors built a database of age-corrected skull geometry, skull thickness, and bone density of the developing skull to aid in the development of an age-specific FEM of a child's head. Such a database, containing age-corrected normative skull geometry data, can also be used for preoperative surgical planning and postoperative long-term follow-up of craniosynostosis surgery results. Computed tomography data were processed for 187 patients (age range 0-20 years old). A 3D surface model was calculated from segmented skull surfaces. Skull models, reference points, and sutures were processed into a MATLAB-supported database. This process included automatic calculation of 2D measurements as well as 3D measurements: length of the coronal suture, length of the lambdoid suture, and the 3D anterior-posterior length, defined as the sum of the metopic and sagittal suture. Skull thickness and skull bone density calculations were included. Cephalic length, cephalic width, intercoronal distance, lateral orbital distance, intertemporal distance, and 3D measurements were obtained, confirming the well-established general growth pattern of the skull. Skull thickness increases rapidly in the first year of life, slowing down during the second year of life, while skull density increases with a fast but steady pace during the first 3 years of life. Both skull thickness and density continue to increase up to adulthood. This is the first report of normative data on 2D and 3D measurements, skull bone thickness, and skull bone density for children aged 0-20 years. This database can help build an age

  6. Alignment in the transverse plane, but not sagittal or coronal plane, affects the risk of recurrent patella dislocation.

    Science.gov (United States)

    Takagi, Shigeru; Sato, Takashi; Watanabe, Satoshi; Tanifuji, Osamu; Mochizuki, Tomoharu; Omori, Go; Endo, Naoto

    2017-11-17

    Abnormalities of lower extremity alignment (LEA) in recurrent patella dislocation (RPD) have been studied mostly by two-dimensional (2D) procedures leaving three-dimensional (3D) factors unknown. This study aimed to three-dimensionally examine risk factors for RPD in lower extremity alignment under the weight-bearing conditions. The alignment of 21 limbs in 15 RPD subjects was compared to the alignment of 24 limbs of 12 healthy young control subjects by an our previously reported 2D-3D image-matching technique. The sagittal, coronal, and transverse alignment in full extension as well as the torsional position of the femur (anteversion) and tibia (tibial torsion) under weight-bearing standing conditions were assessed by our previously reported 3D technique. The correlations between lower extremity alignment and RPD were assessed using multiple logistic regression analysis. The difference of lower extremity alignment in RPD between under the weight-bearing conditions and under the non-weight-bearing conditions was assessed. In the sagittal and coronal planes, there was no relationship (statistically or by clinically important difference) between lower extremity alignment angle and RPD. However, in the transverse plane, increased external tibial rotation [odds ratio (OR) 1.819; 95% confidence interval (CI) 1.282-2.581], increased femoral anteversion (OR 1.183; 95% CI 1.029-1.360), and increased external tibial torsion (OR 0.880; 95% CI 0.782-0.991) were all correlated with RPD. The tibia was more rotated relative to femur at the knee joint in the RPD group under the weight-bearing conditions compared to under the non-weight-bearing conditions (p alignment parameters in the transverse plane related to the risk of RPD, while in the sagittal and coronal plane alignment parameters did not correlate with RPD. The clinical importance of this study is that the 3D measurements more directly, precisely, and sensitively detect rotational parameters associated with RPD and

  7. Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

    Science.gov (United States)

    Heidari, Abolfazl; Tongsook, Chanakan; Najafipour, Reza; Musante, Luciana; Vasli, Nasim; Garshasbi, Masoud; Hu, Hao; Mittal, Kirti; McNaughton, Amy J. M.; Sritharan, Kumudesh; Hudson, Melissa; Stehr, Henning; Talebi, Saeid; Moradi, Mohammad; Darvish, Hossein; Arshad Rafiq, Muhammad; Mozhdehipanah, Hossein; Rashidinejad, Ali; Samiei, Shahram; Ghadami, Mohsen; Windpassinger, Christian; Gillessen-Kaesbach, Gabriele; Tzschach, Andreas; Ahmed, Iltaf; Mikhailov, Anna; Stavropoulos, D. James; Carter, Melissa T.; Keshavarz, Soraya; Ayub, Muhammad; Najmabadi, Hossein; Liu, Xudong; Ropers, Hans Hilger; Macheroux, Peter; Vincent, John B.

    2015-01-01

    Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid secretion and neuromodulation. The enzyme histamine N-methyltransferase (HNMT) inactivates HA by transferring a methyl group from S-adenosyl-l-methionine to HA, and is the only well-known pathway for termination of neurotransmission actions of HA in mammalian central nervous system. We performed autozygosity mapping followed by targeted exome sequencing and identified two homozygous HNMT alterations, p.Gly60Asp and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability from two unrelated consanguineous families of Turkish and Kurdish ancestry, respectively. We verified the complete absence of a functional HNMT in patients using in vitro toxicology assay. Using mutant and wild-type DNA constructs as well as in silico protein modeling, we confirmed that p.Gly60Asp disrupts the enzymatic activity of the protein, and that p.Leu208Pro results in reduced protein stability, resulting in decreased HA inactivation. Our results highlight the importance of inclusion of HNMT for genetic testing of individuals presenting with intellectual disability. PMID:26206890

  8. Nonsyndromic cleft lip and palate: Evidence of linkage to a microsatellite marker on 6p23

    Energy Technology Data Exchange (ETDEWEB)

    Carinci, F.; Pezzetti, F.; Scapoli, L.; Padula, E.; Baciliero, U.; Curioni, C.; Tognon, M.

    1995-01-01

    Nonsydromic cleft lip with or without secondary clefting of the palate (CL+/{minus}P) is one of the most common birth defects. A previous linkage study concerning CL+/{minus}P and cleft palate (CP) families indicated chromosome 6p, near F13A locus, as a possible region for the presence of a clefting gene. More recently, another linkage study performed on a sample of 12 families with nonsyndromic CL+/{minus}P seemed to exclude this association. To test the hypothesis on the possible presence of a major gene on chromosome 6p, we carried out a study on a large sample (21) of CL+/{minus}P families from northeastern Italy. In conclusion, our investigation can be summarized as follows: (i) CL+/{minus}P disease appears to be heterogeneous; (ii) {approximately}66% of the pedigrees showed an autosomal dominant inheritance with incomplete penetrance; and (iii) CL+/{minus}P locus maps on 6p23 very close to or at the microsatellite marker D6S89. To verify whether the D6S89 is the closest marker to the CL+/{minus}P locus, additional examinations with new markers are underway. 19 refs., 1 fig., 1 tab.

  9. Possible linkage of non-syndromic cleft lip and palate to the MSX1 homebox gene on chromosome 4p

    Energy Technology Data Exchange (ETDEWEB)

    Wang, S.; Walczak, C.; Erickson, R.P.

    1994-09-01

    The MSX1 (HOX7) gene has been shown recently to cause cleft palate in a mouse model deficient for its product. Several features of this mouse model make the human homolog of this gene an excellent candidate for non-syndromic cleft palate. We tested this hypothesis by linkage studies in two large multiplex human families using a microsatellite marker in the human MSX1 gene. A LOD score of 1.7 was obtained maximizing at a recombination fraction of 0.09. Computer simulation power calculations using the program SIMLINK indicated that a LOD score this large is expected to occur only about 1/200 times by chance alone for a marker locus with comparable informativeness if unlinked to the disease gene. This suggestive finding is being followed up by attempts to recruit and study additional families and by DNA sequence analyses of the MSX1 gene in these families and other cleft lip and/or cleft palate subjects and these further results will also be reported.

  10. Mutation analysis of GJB2 gene and prenatal diagnosis in a non-syndromic deafness family

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    Xiao-hua CHEN

    2014-08-01

    Full Text Available Objective To identify the pathogenic gene in a non-syndromic deafness family, provide an accurate genetic consultation and early intervention for deaf family to reduce the incidence of congenital deafness. Methods Mutation analysis was carried out by polymerase chain reaction followed by DNA sequencing of coding region of GJB2 gene. The fetal DNA was extracted from the amniotic fluid cells by amniocentesis at 20 weeks during pregnancy. The genotype of the fetus was characterized for predicting the status of hearing. Results Complex heterozygous mutations 235delC and 176-191del16bp were detected in the proband of the family, heterozygous mutation 176-191del16bp was detected in the father, and 235delC was detected in the mother. Fetus carried 235delC heterozygous mutation inherited from his mother. Conclusions The proband's hearing loss is resulted from the complex heterozygous mutations 235delC and 176-191del16bp in GJB2 gene. Fetus is a heterozygous mutation 235delC carrier. Prenatal diagnosis for deafness assisted by genetic test can provide efficient guidance about offspring's hearing condition, and prevent another deaf-mute member from birth. DOI: 10.11855/j.issn.0577-7402.2014.07.09

  11. Spine evaluation: Determination of the relationship between thoracic spinal deformity and sagittal curves by a noninvasive method DOI: 10.5007/1980-0037.2010v12n4p282

    Directory of Open Access Journals (Sweden)

    Dalva Minonroze Albuquerque Ferreira

    2010-01-01

    Full Text Available The objectives of this study were to compare sagittal plane alignment between subjects with spinal deformities and a group presenting no changes; to test the reliability of the tool used, and to determine the existence of correlations between spinal deformity and sagittal curvature measures. Forty young subjects were divided into two groups: a control group (n=20 presenting no changes or spinal deformity less than 0.5 cm in the dorsal curvature and 0.7 cm in the lumbar curvature, and an experimental group (n=20 with spinal deformities greater than those described for the control group. Spinal deformity and sagittal plane curvatures were measured using a water level-based tool and by the Adams test. Data were collected from the two groups on two distinct occasions. The Mann-Whitney test showed no difference between sampling times. A significant difference between the two groups was only observed in terms of cervical curvature. Spearman’s test revealed a linear correlation between dorsal curvature and dorsal spinal deformity in the control group, between dorsal and lumbar curves in the two groups, and between dorsal spinal deformity and lumbar and sacral curves and between sacral curvature and dorsal and lumbar curves in the experimental group. In conclusion, spinal deformity measurement is associated with sagittal plane curvatures. The method proposed here is reliable, simple and accessible and can be reproduced without high costs and damage to the patient’s health.

  12. Biomechanical evaluation of sagittal maxillary internal distraction osteogenesis in unilateral cleft lip and palate patient and noncleft patients: a three-dimensional finite element analysis.

    Science.gov (United States)

    Olmez, Sultan; Dogan, Servet; Pekedis, Mahmut; Yildiz, Hasan

    2014-09-01

    To compare the pattern and amount of stress and displacement during maxillary sagittal distraction osteogenesis (DO) between a patient with unilateral cleft lip and palate (UCLP) and a noncleft patient. Three-dimensional finite element models for both skulls were constructed. Displacements of the surface landmarks and stress distributions in the circummaxillary sutures were analyzed after an anterior displacement of 6 mm was loaded to the elements where the inferior plates of the distractor were assumed to be fixed and were below the Le Fort I osteotomy line. In sagittal plane, more forward movement was found on the noncleft side in the UCLP model (-6.401 mm on cleft side and -6.651 mm on noncleft side for the central incisor region). However, similar amounts of forward movement were seen in the control model. In the vertical plane, a clockwise rotation occurred in the UCLP model, whereas a counterclockwise rotation was seen in the control model. The mathematical UCLP model also showed higher stress values on the sutura nasomaxillaris, frontonasalis, and zygomatiomaxillaris on the cleft side than on the normal side. Not only did the sagittal distraction forces produce advancement forces at the intermaxillary sutures, but more stress was also present on the sutura nasomaxillaris, sutura frontonasalis, and sutura zygomaticomaxillaris on the cleft side than on the noncleft side.

  13. Anesthetic management of a patient with Bartter′s syndrome undergoing bilateral sagittal split osteotomy

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    Nasser Nooh

    2012-01-01

    Full Text Available Bartter′s syndrome is an unusual (estimated incidence is 1.2 per million people but important congenital form of secondary hyperaldosteronism; due to abnormalities in renal handling of electrolytes. It is associated with hypertrophy and hyperplasia of the juxtaglomerular cells, normal blood pressure, and hypokalemic alkalosis withoutedema.We present a 22-year-old woman with Bartter′s syndrome underwent bilateral sagittal split osteotomy to correct mandibular prognathic. The anesthetic management of Bartter′s syndrome should be relevant to the pathophysiology of the syndrome. Therefore, it should be directed toward maintaining cardiovascular stability, control of associated fluid, electrolyte and acid-base derangements, and the prevention of renal damage.

  14. Changes in superior sagittal sinus blood velocities due to postural alterations and pressure on the head of the newborn infant.

    Science.gov (United States)

    Cowan, F; Thoresen, M

    1985-06-01

    A pulsed Doppler bidirectional ultrasound system has been used to measure alterations in the blood velocities in the superior sagittal sinus of the healthy term newborn infant in response to unilateral and bilateral jugular venous occlusion. These maneuvers were performed with the baby lying in different positions: supine, prone, and on the side (both left and right), the neck flexed or extended, and with the head in the midline or turned 90 degrees to the side (both left and right). Transfontanel pressure was also measured in these positions during occlusions. Results show that turning the head effectively occludes the jugular vein on the side to which the head is turned and that occluding the other jugular vein does not force blood through this functional obstruction. The effect of different forms of external pressure to the head on the superior sagittal sinus velocities was also examined. Alterations in velocities were frequently profound although they varied considerably from baby to baby. This work shows how readily large fluctuations in cranial venous velocities and pressures can occur in the course of normal handling of babies.

  15. Sagittal venous sinus thrombosis after cesarean section: a case report

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    Farideh Keypour

    2013-07-01

    Full Text Available Background: Cerebral venous thrombosis (CVT is uncommon after cesarean section. Although it can be a leading cause of maternal mortality. CVT may occur during pregnancy because of hypercoagulable states such as preeclampsia, thrombophilias, antiphospholipid antibody syndrome and sepsis.Case presentation: A 31 years old woman G2 Ab1 at 37 weeks gestational age with  premature rupture of membrane underwent cesarean section because breech presentation and preeclampsia. Spinal anesthesia was done for emergent cesarean section. On the second day after cesarean section, she developed headache, vomiting, focal neurologic deficits, paresthesia, blurred vision. Brain magnetic resonance imaging (MRI showed thrombosis in anterior half of superior sagittal sinus. Treatment consisted of anticoagulation.  Conclusion: Thrombophilias, pregnancy-related hypertension and cesarean section are the predisposing factors for thromboembolism. Unfractionated heparin and low molecular weight heparin (LMWs are effective drugs for thromboprophylaxis. It is vital to prevent venous thrombosis to reduce mortality during both intrapartum and postpartum periods. Consideration of cerebral venous thrombosis in similar cases is recommended.

  16. Short Lingual Osteotomy Using a Piezosurgery Ultrasonic Bone-Cutting Device During Sagittal Split Ramus Osteotomy.

    Science.gov (United States)

    Kawase-Koga, Yoko; Mori, Yoshiyuki; Kanno, Yuki; Hoshi, Kazuto; Takato, Tsuyoshi

    2015-10-01

    Short lingual osteotomy is a useful method for the performance of sagittal split ramus osteotomy involving interference between the proximal and distal bone fragments when lateral differences exist in the setback distance. However, this procedure occasionally results in abnormal fracture and nerve injury; expert surgical skill is thus required. We herein describe a novel technique involving the use of an ultrasonic bone-cutting device (Piezosurgery; Mectron Medical Technology, Carasco, Italy) for vertical osteotomy posterior to the mandibular foramen. Successful short lingual osteotomy was performed using this technique with avoidance of abnormal fracture and neurovascular bundle damage.

  17. Male and female runners demonstrate different sagittal plane mechanics as a function of static hamstring flexibility.

    Science.gov (United States)

    Williams, D S Blaise; Welch, Lee M

    2015-01-01

    Injuries to runners are common. However, there are many potential contributing factors to injury. While lack of flexibility alone is commonly related to injury, there are clear differences in hamstring flexibility between males and females. To compare the effect of static hamstring length on sagittal plane mechanics between male and female runners. Forty subjects (30.0±6.4 years) participated and were placed in one of 4 groups: flexible males (n=10), inflexible males (n=10), flexible females (n=10), and inflexible females (n=10). All subjects were free of injury at the time of data collection. Three-dimensional kinematics and kinetics were collected while subjects ran over ground across 2 force platforms. Sagittal plane joint angles and moments were calculated at the knee and hip and compared with a 2-way (sex X flexibility) ANOVA (α=0.05). Males exhibited greater peak knee extension moment than females (M=2.80±0.47, F=2.48±0.52 Nm/kg*m, p=0.05) and inflexible runners exhibited greater peak knee extension moment than flexible runners (In=2.83±0.56, Fl=2.44±0.51 Nm/kg*m, p=0.01). For hip flexion at initial contact, a significant interaction existed (pHamstring flexibility results in different mechanical profiles in males and females. Flexibility in the hamstrings may result in decreased moments via active or passive tension. These differences may have implications for performance and injury in flexible female runners.

  18. Correlation between Sagittal Spinopelvic Parametersand Oswestry Disability Indexafter Thoracal and Lumbar Spine Stabilization and Fusion

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    Yudistira Prama Tirta

    2017-04-01

    Full Text Available Spinopelvic parameter consists of sagittal vertical axis (SVA, pelvic incidence (PI, pelvic tilt (PT, sacral slope (SS which are measured by whole-spine-lateral-view radiograph in standing position. Measurement of the separameters is pivotalas the land mark analysis toachieve correct sagittal balance. The objective of the study is to analyze the correlation between PI, PT, SVA and SSwith theclinical outcomes which was measured usingOswestry Disability Index (ODI scoring system.This is a cross-sectional study involving 19 patients who underwent thoracal and lumbar fusion surgery in our centerduring 2012-2014. Radiographi cevaluation of SVA, PI, PT, and SS and ODI score were performed 1 year after surgery. Pearson test was conducted to determine the correlation between SVA, PI, PT, and SS with ODI score.There wasa strong correlation between ODI withSVA and PI (p<0.001,r=0.866; p=0.006; r=0.603, respectively. There was no correlation between other parameters with ODI.Based on this study, spinopelvic parameters that can represent the clinical outcome after thoracal and lumbar fusion and stabilization surgeries are SVA and PI. Keywords: spinopelvic parameter, post operation, vertebrae fusion.   Korelasi antara Parameter Luaran Spinopelvik Sagital dengan Oswestry Disability Index pasca Stabilisasi dan Fusi Vertebra Torakal dan Lumbar   Abstrak Parameter spinopelvis terdiri atas sagittal vertical axis (SVA, pelvic incidence (PI, pelvic tilt (PT, sacral slope (SS dan diukur menggunakan X-ray seluruh tulang belakang lateral yang diambil pada posisi berdiri. Pengukuran parameter ini penting sebagai dasar analisis keseimbangan sagital pada operasi rekonstruksi vertebra. Tujuan penelitian ini adalah untuk menganalisis korelasi antara PI, PT, SVA, dan SS pada luaran klinis berdasarkan sistem skoring oswestry disability index (ODI. Studi ini adalah studi potong lintang dengan 19 subjek yang menjalani fusi dan stabilisasi torakal dan lumbal di center kami

  19. Bad split during bilateral sagittal split osteotomy of the mandible with separators: a retrospective study of 427 patients.

    Science.gov (United States)

    Mensink, Gertjan; Verweij, Jop P; Frank, Michael D; Eelco Bergsma, J; Richard van Merkesteyn, J P

    2013-09-01

    An unfavourable fracture, known as a bad split, is a common operative complication in bilateral sagittal split osteotomy (BSSO). The reported incidence ranges from 0.5 to 5.5%/site. Since 1994 we have used sagittal splitters and separators instead of chisels for BSSO in our clinic in an attempt to prevent postoperative hypoaesthesia. Theoretically an increased percentage of bad splits could be expected with this technique. In this retrospective study we aimed to find out the incidence of bad splits associated with BSSO done with splitters and separators. We also assessed the risk factors for bad splits. The study group comprised 427 consecutive patients among whom the incidence of bad splits was 2.0%/site, which is well within the reported range. The only predictive factor for a bad split was the removal of third molars at the same time as BSSO. There was no significant association between bad splits and age, sex, class of occlusion, or the experience of the surgeon. We think that doing a BSSO with splitters and separators instead of chisels does not increase the risk of a bad split, and is therefore safe with predictable results. Copyright © 2012 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  20. Treatment and post-treatment effects of facemask therapy on the sagittal pharyngeal dimensions in Class III subjects.

    Science.gov (United States)

    Baccetti, Tiziano; Franchi, Lorenzo; Mucedero, Manuela; Cozza, Paola

    2010-06-01

    The purpose of this cephalometric study was to analyse the treatment and post-treatment craniofacial effects of a facemask (FM) combined with a bite block (BB) with specific regard to the sagittal pharyngeal dimensions in subjects with a Class III malocclusion when compared with an untreated Class III control group. The FM/BB group (22 subjects, 12 females and 10 males) had a mean age pre-treatment (T1) of 8.9 +/- 1.5 years, at the end of active treatment (T2) of 10.5 +/- 1.3 years, and post-treatment (T3) of 12.6 +/- 1.9 years. The treated group was compared with a control group of 14 subjects (6 females and 8 males) with untreated Class III malocclusions that matched the FM/BB group as to age at T1, T2, and T3, observation periods and skeletal maturation. Comparisons of the T2-T1 and T3-T1 changes between the two groups were analysed with the Mann-Whitney test. Significant favourable skeletal changes in the maxilla and mandible were observed in the treated group both after Ts2 and T3. No significant short- or long-term changes in the sagittal oropharyngeal and nasopharyngeal airway dimensions were induced by maxillary protraction in subjects with a Class III malocclusion when compared with untreated controls.

  1. Anorectal anomaly with rectovestibular fistula: a historical comparison of neonatal anterior sagittal anorectoplasty without covering colostomy and postoperative anal dilatation to the classical three-stage posterior sagittal anorectoplasty

    Directory of Open Access Journals (Sweden)

    Abdul Aziz DA

    2017-08-01

    Full Text Available Dayang Anita Abdul Aziz,1 Ramamoorthy Velayutham,2 Marjmin Osman,1 Zarina Abdul Latiff,3 Felicia SK Lim,4 Mahmud Mohd Nor1 1Department of Surgery, UKM Medical Centre, Kuala Lumpur, 2Department of Surgery, Hospital Raja Permaisuri Bainun, Ipoh, 3Department of Paediatrics, 4Department of Anaesthesia, UKM Medical Centre, Kuala Lumpur, Malaysia Background: Traditional three-stage posterior sagittal anorectoplasty (PSARP is a widely used operational technique for rectovestibular fistula (RVF which includes creation of stoma, definitive surgery, and subsequent closure of stoma. Three-stage PSARP is usually completed during infancy. Many pediatric surgeons across the world have embarked on anterior sagittal anorectoplasty (ASARP as an alternative technique to reduce pelvic floor dissection and the need to operate with patients in the prone position. ASARP is performed with the patient lying in supine position and it can be performed as one-stage repair during the neonatal period. Early reports from many centers are showing promising results. An outcome comparison of both techniques is vital to help surgeons consider this new approach in the repair of RVF.Patients and methods: This is a retrospective historical comparison study. Nine neonates with RVF underwent primary ASARP without postoperative anal dilatation and were compared to 25 patients with RVF who underwent three-stage PSARP with postoperative anal dilatation. Immediate surgical outcome was reviewed from the records and follow-up sheets of individual patients and functional outcome was assessed by interviewing the parents. Results were compared statistically; P-value ≤0.05 was considered significant.Results: The immediate surgical complications were higher in the PSARP group (40% compared to the ASARP group (22%. Functional outcome showed overall better outcome in ASARP compared to PSARP. Patients from both groups did not develop stenosis, although only the PSARP group was subjected to daily

  2. Gene-gene interaction between MSX1 and TP63 in Asian case-parent trios with nonsyndromic cleft lip with or without cleft palate.

    Science.gov (United States)

    Liu, Dongjing; Schwender, Holger; Wang, Mengying; Wang, Hong; Wang, Ping; Zhu, Hongping; Zhou, Zhibo; Li, Jing; Wu, Tao; Beaty, Terri H

    2018-03-01

    Small ubiquitin-like modification, also known as sumoylation, is a crucial post-translational regulatory mechanisms involved in development of the lip and palate. Recent studies reported two sumoylation target genes, MSX1 and TP63, to have achieved genome-wide level significance in tests of association with nonsyndromic clefts. Here, we performed a candidate gene analysis considering gene-gene and gene-environment interaction for SUMO1, MSX1, and TP63 to further explore the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P). A total of 130 single-nucleotide polymorphisms (SNPs) in or near SUMO1, MSX1, and TP63 was analyzed among 1,038 Asian NSCL/P trios ascertained through an international consortium. Conditional logistic regression models were used to explore gene-gene (G × G) and gene-environment (G × E) interaction involving maternal environmental tobacco smoke and multivitamin supplementation. Bonferroni correction was used for G × E analysis and permutation tests were used for G × G analysis. While transmission disequilibrium tests and gene-environment interaction analysis showed no significant results, we did find signals of gene-gene interaction between SNPs near MSX1 and TP63. Three pairwise interactions yielded significant p values in permutation tests (rs884690 and rs9290890 with p = 9.34 × 10 -5 and empirical p = 1.00 × 10 -4 , rs1022136 and rs4687098 with p = 2.41 × 10 -4 and empirical p = 2.95 × 10 -4 , rs6819546 and rs9681004 with p = 5.15 × 10 -4 and empirical p = 3.02 × 10 -4 ). Gene-gene interaction between MSX1 and TP63 may influence the risk of NSCL/P in Asian populations. Our study provided additional understanding of the genetic etiology of NSCL/P and underlined the importance of considering gene-gene interaction in the etiology of this common craniofacial malformation. © 2018 Wiley Periodicals, Inc.

  3. [Extensive cranioplasty for sagittal synostosis in young children by preserving multiple cranial bone flaps adhered to the dura mater: experience with 63 cases].

    Science.gov (United States)

    Bao Nan; Chu Jun; Wang Xue; Yang, Bo; Song, Yunhai; Cai, Jinjing

    2016-01-01

    This study aimed to evaluate the effort of applying frontal and occipital bones in extensive cranioplasty and preserving multiple cranial bone flaps adhered to the dura mater in the treatment of sagittal synostosis. From April 2008 to June 2013, sixty-three children with sagittal synostosis, aged 5 months to 3 years, were included in the study. The frontal bone flap was removed using an air drill. The occipital and bilateral temporal bone flaps were cut open but not detached from the dura mater or fixed to produce floating bone flaps. The skull bone was cut into palisade-like structures. Brain compression from both sides and the base of the skull was released and the brain expanded bilaterally through the enlarged space. Only a long strip-shaped bone bridge remained in the central parietal bone. Subsequently, the frontal bone flaps and occipital bone flap were pushed towards the midline and fixed with the parietal bone bridge to shorten the anteroposterior diameter of the cranial cavity and allow the brain to expand bilaterally to correct scaphocephaly. The CT images showed that both sides of the parietal bone of artificial sagittal groove gradually merged postoperative 1 year, and skull almost completely normal healing after operation 2 or 3 years, without deformity recurrence within 5 years. Among them all, 61 children's intelligence is normal and 2 children's lagged behind normal level, no further improvement. Patients were followed up 1 - 5 years (an average of 43 months). Skull growth was excellent in all patients, the anteroposterior diameter was shortened by 14.6 mm averagely, the transverse diameter was increased by 12.3 mm averagely, the prominent forehead was corrected, and scaphocephaly improved significantly. There were no complications such as death and skull necrosis. The application of frontal and occipital bones in extensive cranioplasty and preserving multiple cranial bone flaps adhered to the dura mater can be used in the treatment of sagittal

  4. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

    DEFF Research Database (Denmark)

    Nyegaard, Mette; Rendtorff, Nanna D; Nielsen, Morten S

    2015-01-01

    Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP......-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192......-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXX phi). In whole blood from an affected individual, we found by RT-PCR both the wild...

  5. Dental anomalies inside the cleft region in individuals with nonsyndromic cleft lip with or without cleft palate.

    Science.gov (United States)

    Sá, Jamile; Araújo, Luana; Guimarães, Laís; Maranhão, Samário; Lopes, Gabriela; Medrado, Alena; Coletta, Ricardo; Reis, Silvia

    2016-01-01

    Individuals with nonsyndromic cleft lip with or without cleft palate (NSCL±P) present high frequency of dental anomalies, which may represent complicating factors for dental treatment. The aim of this study was to investigate the prevalence of dental anomalies inside cleft area in a group of Brazilians with NSCL±P. Retrospective analysis of 178 panoramic radiographs of patients aged from 12 to 45 years old and without history of tooth extraction or orthodontic treatment was performed. Association between cleft type and the prevalence of dental anomalies was assessed by chi-square test with a significance level set at p≤ 0.05. Dental anomalies were found in 88.2% (n=157) of the patients. Tooth agenesis (47.1%), giroversion (20%) and microdontia (15.5%) were the most common anomalies. Individuals with unilateral complete cleft lip and palate (CLP, pdental anomalies inside cleft region in NSCL±P patients, and further demonstrated that patients with unilateral complete CLP and bilateral incomplete CLP were frequently more affected by dental anomalies. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning of individuals affected by NSCL±P.

  6. Reliability and Validity Measurement of Sagittal Lumbosacral Quiet Standing Posture with a Smartphone Application in a Mixed Population of 183 College Students and Personnel

    Directory of Open Access Journals (Sweden)

    George A. Koumantakis

    2016-01-01

    Full Text Available Accurate recording of spinal posture with simple and accessible measurement devices in clinical practice may lead to spinal loading optimization in occupations related to prolonged sitting and standing postures. Therefore, the purpose of this study was to establish the level of reliability of sagittal lumbosacral posture in quiet standing and the validity of the method in differentiating between male and female subjects, establishing in parallel a normative database. 183 participants (83 males and 100 females, with no current low back or pelvic pain, were assessed using the “iHandy Level” smartphone application. Intrarater reliability (3 same-day sequential measurements was high for both the lumbar curve (ICC2,1: 0.96, SEM: 2.13°, and MDC95%: 5.9° and the sacral slope (ICC2,1: 0.97, SEM: 1.61°, and MDC95%: 4.46° sagittal alignment. Data analysis for each gender separately confirmed equally high reliability for both male and female participants. Correlation between lumbar curve and sacral slope was high (Pearson’s r=0.86, p<0.001. Between-gender comparisons confirmed the validity of the method to differentiate between male and female lumbar curve and sacral slope angles, with females generally demonstrating greater lumbosacral values (p<0.001. The “iHandy Level” application is a reliable and valid tool in the measurement of lumbosacral quiet standing spinal posture in the sagittal plane.

  7. A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2

    Energy Technology Data Exchange (ETDEWEB)

    Lalwani, A.K.; Brister, J.R.; Fex, J.; Grundfast, K.M.; Pikus, A.T.; Ploplis, B.; San Agustin, T.; Skarka, H.; Wilcox, E.R. [National Institutes of Health, Bethesda, MD (United States)

    1994-10-01

    X-linked deafness is a rare cause of hereditary hearing impairment. We have identified a family with X-linked dominant sensorineural hearing impairment, characterized by incomplete penetrance and variable expressivity in carrier females, that is linked to the Xp21.2, which contains the Duchenne muscular dystrophy (DMD) locus. The auditory impairment in affected males was congenital, bilateral, profound, sensorineural, affecting all frequencies, and without evidence of radiographic abnormality of the temporal bone. Adult carrier females manifested bilateral, mild-to-moderate high-frequency sensorineural hearing impairment of delayed onset during adulthood. Eighteen commercially available polymorphic markers from the X chromosome, generating a 10-15-cM map, were initially used for identification of a candidate region. DXS997, located within the DMD gene, generated a two-point LOD score of 2.91 at {theta} = 0, with every carrier mother heterozygous at this locus. Recombination events at DXS992 (located within the DMD locus, 3{prime} to exon 50 of the dystrophin gene) and at DXS1068 (5{prime} to the brain promoter of the dystrophin gene) were observed. No recombination events were noted with the following markers within the DMD locus: 5{prime}DYS II, intron 44, DXS997, and intron 50. There was no clinical evidence of Duchenne or Becker muscular dystrophy in any family member. It is likely that this family represents a new locus on the X chromosome, which when mutated results in nonsyndromic sensorineural hearing loss and is distinct from the heterogeneous group of X-linked hearing losses that have been previously described. 57 refs., 6 figs., 1 tab.

  8. The influence of elastic orthotic belt on sagittal profile in adolescent idiopathic thoracic scoliosis: a comparative radiographic study with Milwaukee brace

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    Qian Bangping

    2010-09-01

    Full Text Available Abstract Background The effectiveness of bracing on preventing curve progression in coronal plane for mild and moderate adolescent idiopathic scoliosis (AIS patients has been confirmed by previous radiographic researches. However, a hypokyphotic effect on the sagittal plane has been reported by a few studies. A relatively increasing number of AIS patients were noticed to wear a new kind of elastic orthotic belt for the treatments of scoliosis without doctors' instructions. We postulate the correcting mechanism of this new appliance may cause flattening of the spine. To our knowledge, no study has investigated the effects of this new orthosis on the sagittal profile of AIS patients. The aim of this study was to evaluate and compare the effects of elastic orthotic belt and Milwaukee brace on the sagittal alignment in AIS patients. Methods Twenty-eight female AIS patients with mild or moderate thoracic curves were included in this study. Standing full-length lateral radiographs were obtained in three conditions: natural standing posture without any treatment, with elastic orthotic belt and with Milwaukee brace. Thoracic kyphosis (TK, lumber lordosis (LL and pelvic incidence (PI were measured and compared between the above three conditions. Results Both elastic orthotic belt and Milwaukee brace can lead to significant decrease of TK, however, the decrease of TK after wearing elastic orthotic belt is significantly larger than that after wearing Milwaukee brace. Compared with no treatment, LL was found to be significantly smaller after wearing Milwaukee brace, however, such significant decrease was not noted after wearing elastic orthotic belt. No significant changes were observed for the PI between 3 conditions. Conclusions The elastic orthotic belt could lead to more severe thoracic hypokyphosis when compared with Milwaukee brace. This belt may not be a suitable conservative method for the treatment of mild and moderate AIS patients.

  9. Impact of Cervical Sagittal Alignment on Axial Neck Pain and Health-related Quality of Life After Cervical Laminoplasty in Patients With Cervical Spondylotic Myelopathy or Ossification of the Posterior Longitudinal Ligament: A Prospective Comparative Study.

    Science.gov (United States)

    Fujiwara, Hiroyasu; Oda, Takenori; Makino, Takahiro; Moriguchi, Yu; Yonenobu, Kazuo; Kaito, Takashi

    2018-05-01

    This is prospective observational study. To prospectively investigate the correlation among axial neck pain; a newly developed patient-based quality of life outcome measure, the Japanese Orthopaedic Association Cervical Myelopathy Evaluation Questionnaire (JOACMEQ); and cervical sagittal alignment after open-door laminoplasty for cervical myelopathy. Many studies have focused on postoperative axial neck pain after laminoplasty. However, the correlation among cervical sagittal alignment, neck pain, and JOACMEQ has not been investigated. In total, 57 consecutive patients treated by open-door laminoplasty for cervical myelopathy were included (mean age, 63.7 y; 15 women and 42 men) and divided into 2 groups according to diagnosis [cervical spondylotic myelopathy (CSM) group: 35 patients, and ossification of the posterior longitudinal ligament (OPLL) group: 22 patients]. JOA score, a subdomain of cervical spine function (CSF) in the JOACMEQ, and the visual analog scale for axial neck pain were assessed preoperatively and 12 months postoperatively. Radiographic cervical sagittal parameters were measured by C2 sagittal vertical axis (C2 SVA), C2-C7 lordosis, C7 sagittal slope (C7 slope), and range of motion. C2 SVA values in both groups shifted slightly anteriorly between preoperative and 12-month postoperative measurements (CSM: +19.7±10.9 mm; OPLL: +22.1±13.4 mm vs. CSM: +23.2±16.1 mm; OPLL: +28.7±15.4 mm, respectively). Postoperative axial neck pain in the OPLL group showed strong negative correlations with C2 SVA and C7 slope. Strong negative correlations were found between axial neck pain and CSF in both the preoperative CSM and OPLL groups (CSM: r=-0.45, P=0.01; OPLL: r=-0.61, Ppain and CSF in the postoperative OPLL group (r=-0.51, P=0.05). This study demonstrated a significant negative correlation between neck pain and CSF in both the CSM and OPLL groups preoperatively and in the OPLL group postoperatively. Radiographic cervical sagittal alignment

  10. Genetics Home Reference: Pfeiffer syndrome

    Science.gov (United States)

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Craniosynostosis Information Page Educational Resources (7 links) Boston Children's Hospital Cincinnati Children's Hospital Medical Center: Craniosynostosis Collaboration ...

  11. Lumbar Sagittal Shape Variation vis-à-vis Gender During Growth: A Three-Year Follow-Up Mri Study in Children from the General Population

    DEFF Research Database (Denmark)

    Masharawi, Y; Kjaer, P; Manniche, C

    2012-01-01

    ABSTRACT: Study Design. A longitudinal descriptive MRI study on the changes of the supine lumbar lordosis (SLL), supine sacral slope (SSS), and sagittal wedging of the vertebral body (VB) and intervertebral discs (IVD) in children from the general population.Objective. To compare the shape...

  12. Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

    Science.gov (United States)

    Heidari, Abolfazl; Tongsook, Chanakan; Najafipour, Reza; Musante, Luciana; Vasli, Nasim; Garshasbi, Masoud; Hu, Hao; Mittal, Kirti; McNaughton, Amy J M; Sritharan, Kumudesh; Hudson, Melissa; Stehr, Henning; Talebi, Saeid; Moradi, Mohammad; Darvish, Hossein; Arshad Rafiq, Muhammad; Mozhdehipanah, Hossein; Rashidinejad, Ali; Samiei, Shahram; Ghadami, Mohsen; Windpassinger, Christian; Gillessen-Kaesbach, Gabriele; Tzschach, Andreas; Ahmed, Iltaf; Mikhailov, Anna; Stavropoulos, D James; Carter, Melissa T; Keshavarz, Soraya; Ayub, Muhammad; Najmabadi, Hossein; Liu, Xudong; Ropers, Hans Hilger; Macheroux, Peter; Vincent, John B

    2015-10-15

    Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid secretion and neuromodulation. The enzyme histamine N-methyltransferase (HNMT) inactivates HA by transferring a methyl group from S-adenosyl-l-methionine to HA, and is the only well-known pathway for termination of neurotransmission actions of HA in mammalian central nervous system. We performed autozygosity mapping followed by targeted exome sequencing and identified two homozygous HNMT alterations, p.Gly60Asp and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability from two unrelated consanguineous families of Turkish and Kurdish ancestry, respectively. We verified the complete absence of a functional HNMT in patients using in vitro toxicology assay. Using mutant and wild-type DNA constructs as well as in silico protein modeling, we confirmed that p.Gly60Asp disrupts the enzymatic activity of the protein, and that p.Leu208Pro results in reduced protein stability, resulting in decreased HA inactivation. Our results highlight the importance of inclusion of HNMT for genetic testing of individuals presenting with intellectual disability. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  13. Finding new genes for non-syndromic hearing loss through an in silico prioritization study.

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    Matteo Accetturo

    Full Text Available At present, 51 genes are already known to be responsible for Non-Syndromic hereditary Hearing Loss (NSHL, but the knowledge of 121 NSHL-linked chromosomal regions brings to the hypothesis that a number of disease genes have still to be uncovered. To help scientists to find new NSHL genes, we built a gene-scoring system, integrating Gene Ontology, NCBI Gene and Map Viewer databases, which prioritizes the candidate genes according to their probability to cause NSHL. We defined a set of candidates and measured their functional similarity with respect to the disease gene set, computing a score ( S S M avg that relies on the assumption that functionally related genes might contribute to the same (disease phenotype. A Kolmogorov-Smirnov test, comparing the pair-wise distribution on the disease gene set with the distribution on the remaining human genes, provided a statistical assessment of this assumption. We found at a p-value 0.99. The twenty top-scored genes were finally examined to evaluate their possible involvement in NSHL. We found that half of them are known to be expressed in human inner ear or cochlea and are mainly involved in remodeling and organization of actin formation and maintenance of the cilia and the endocochlear potential. These findings strongly indicate that our metric was able to suggest excellent NSHL candidates to be screened in patients and controls for causative mutations.

  14. Bilateral sagittal split osteotomy: Surgery first approach for correction of skeletal Class II

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    Revathi Peddu

    2018-01-01

    Full Text Available Most of the skeletal malocclusions which require orthognathic surgeries are treated by traditional approach which requires time-consuming and unesthetic presurgical orthodontic phase. Surgery first approach (SFA avoids these disadvantages of the traditional approach. A 24-year-old female patient with skeletal and dental class II malocclusion due to retrognathic mandible was treated with SFA. Bilateral sagittal split osteotomy with mandibular advancement was done immediately after initial alignment and closure of the existing spaces in the maxillary arch. Angle's class I molar and canine relation was achieved after surgery. Bonding of the mandibular arch was done after 1 month of orthognathic surgery and treatment was completed within 13 months. A wrap-around retainer was placed in upper arch, and bonded lingual retainer was given in the lower arch.

  15. Superior Sagittal Sinus Thrombosis Presenting with Hallucinations in the Puerperium: A Case Report

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    Zylfije Hundozi

    2016-12-01

    Full Text Available Cerebral venous sinus thrombosis is an uncommon cause of stroke presenting with varied presentation patterns. We report a case of a 21-year-old woman with superior sagittal sinus (SSS thrombosis (SSST developing after childbirth, presenting with visual hallucinations, severe headache, and tonic-clonic seizures. Time-of-flight magnetic resonance angiography (TOF-MRA demonstrated the presence of thrombus in SSS. She was treated with low molecular weight heparin (LMWH followed by warfarin. She had excellent recovery a few weeks after admission and was regularly followed up. Although this condition can be presented with different neurological symptoms, it does not typically present with hallucinations. We suggest that CSVT should be suspected even when a patient presents with an atypical picture in a category of patients at higher risk.

  16. Investigation of the Matrix Metalloproteinase-2 Gene in Patients with Non-Syndromic Mitral Valve Prolapse

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    Maëlle Perrocheau

    2015-07-01

    Full Text Available Non-syndromic mitral valve prolapse (MVP is a common degenerative valvulopathy, predisposing to arrhythmia and sudden death. The etiology of MVP is suspected to be under genetic control, as supported by familial cases and its manifestation in genetic syndrome (e.g., Marfan syndrome. One candidate etiological mechanism is a perturbation of the extracellular matrix (ECM remodeling of the valve. To test this hypothesis, we assessed the role of genetic variants in the matrix metalloproteinase 2 gene (MMP2 known to regulate the ECM turnover by direct degradation of proteins and for which transgenic mice develop MVP. Direct sequencing of exons of MMP2 in 47 unrelated patients and segregation analyses in families did not reveal any causative mutation. We studied eight common single nucleotide polymorphisms (TagSNPs, which summarize the genetic information at the MMP2 locus. The association study in two case controls sets (NCases = 1073 and NControls = 1635 provided suggestive evidence for the association of rs1556888 located downstream MMP2 with the risk of MVP, especially in patients with the fibroelastic defiency form. Our study does not support the contribution of MMP2 rare variation in the etiology to MVP in humans, though further genetic and molecular investigation is required to confirm our current suggestive association of one common variant.

  17. A comparison of standard definitions and sagittal abdominal ...

    Science.gov (United States)

    Introduction: Metabolic syndrome (MeTS) is the cluster of several clinical symptoms that together represent the strongest risk factor for cardiovascular disease. The prevalence of MeTS in adolescents is difficult to estimate given that there are several, but no agreed upon definition of MeTS for this age group. It is important to estimate MeTS and identify at-risk adolescents early in order to provide effective interventions prior to the development of diabetes and coronary heart disease. Objective: Study objectives are to: (1) estimate the prevalence of MeTS in U.S. adolescents using three widely adopted definitions and (2) compare changes in prevalence of MeTS when utilizing sagittal abdominal diameter (SAD) as a component of MeTS. Methods: Data from U.S. adolescents ages 12–19 years (N=970) in the NHANES (2011–2014) were analyzed. MeTS standard definitions developed by Cook et al. (2003), deFerranti et al. (2007), and the International Disease Federation (IDF, 2007) were applied to estimate the sex-stratified, weighted prevalence of MeTS and its individual components (i.e., high waist circumference (WC), hypertension, blood lipid abnormalities, and high fasting blood glucose (FBG)). The definitions were modified by substituting SAD for WC, and weighted MeTS prevalence was re-estimated. Results: Regardless of gender and definition, abnormal blood lipids and high WC were the most prevalent MeTS components. For both sexes, estimated prevalence of componen

  18. Male and female runners demonstrate different sagittal plane mechanics as a function of static hamstring flexibility

    Science.gov (United States)

    Williams III, D. S. Blaise; Welch, Lee M.

    2015-01-01

    ABSTRACT Background: Injuries to runners are common. However, there are many potential contributing factors to injury. While lack of flexibility alone is commonly related to injury, there are clear differences in hamstring flexibility between males and females. Objective: To compare the effect of static hamstring length on sagittal plane mechanics between male and female runners. Method: Forty subjects (30.0±6.4 years) participated and were placed in one of 4 groups: flexible males (n=10), inflexible males (n=10), flexible females (n=10), and inflexible females (n=10). All subjects were free of injury at the time of data collection. Three-dimensional kinematics and kinetics were collected while subjects ran over ground across 2 force platforms. Sagittal plane joint angles and moments were calculated at the knee and hip and compared with a 2-way (sex X flexibility) ANOVA (α=0.05). Results: Males exhibited greater peak knee extension moment than females (M=2.80±0.47, F=2.48±0.52 Nm/kg*m, p=0.05) and inflexible runners exhibited greater peak knee extension moment than flexible runners (In=2.83±0.56, Fl=2.44±0.51 Nm/kg*m, p=0.01). For hip flexion at initial contact, a significant interaction existed (pHamstring flexibility results in different mechanical profiles in males and females. Flexibility in the hamstrings may result in decreased moments via active or passive tension. These differences may have implications for performance and injury in flexible female runners. PMID:26537812

  19. Maxillomandibular Advancement in Obstructive Sleep Apnea Syndrome Patients: a Restrospective Study on the Sagittal Cephalometric Variables

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    Paolo Ronchi

    2013-06-01

    Full Text Available Objectives: The present retrospective study analyzes sagittal cephalometric changes in patients affected by obstructive sleep apnea syndrome submitted to maxillomandubular advancement. Material and Methods: 15 adult sleep apnea syndrome (OSAS patients diagnosed by polysomnography (PSG and treated with maxillomandubular advancement (MMA were included in this study. Pre- (T1 and postsurgical (T2 PSG studies assessing the apnea/hypopnea index (AHI and the lowest oxygen saturation (LSAT level were compared. Lateral cephalometric radiographs at T1 and T2 measuring sagittal cephalometric variables (SNA, SNB, and ANB were analyzed, as were the amount of maxillary and mandibular advancement (Co-A and Co-Pog, the distance from the mandibular plane to the most anterior point of the hyoid bone (Mp-H, and the posterior airway space (PAS.Results: Postoperatively, the overall mean AHI dropped from 58.7 ± 16 to 8.1 ± 7.8 events per hour (P < 0.001. The mean preoperative LSAT increased from 71% preoperatively to 90% after surgery (P < 0.001. All the patients in our study were successfully treated (AHI < 20 or reduced by 50%. Cephalometric analysis performed after surgery showed a statistically significant correlation between the mean SNA variation and the decrease in the AHI (P = 0.01. The overall mean SNA increase was 6°.Conclusions: Our findings suggest that the improvement observed in the respiratory symptoms, namely the apnea/hypopnea episodes, is correlated with the SNA increase after surgery. This finding may help maxillofacial surgeons to establish selective criteria for the surgical approach to sleep apnea syndrome patients.

  20. Comprehensive Analysis of Mandibular Residual Asymmetry after Bilateral Sagittal Split Ramus Osteotomy Correction of Menton Point Deviation.

    Science.gov (United States)

    Lin, Han; Zhu, Ping; Lin, Qiuping; Huang, Xiaoqiong; Xu, Yue; Yang, Xiaoping

    2016-01-01

    Facial asymmetry often persists even after mandibular deviation corrected by the bilateral sagittal split ramus osteotomy (BSSRO) operation, since the reference facial sagittal plane for the asymmetry analysis is usually set up before the mandibular menton (Me) point correction. Our aim is to develop a predictive and quantitative method to assess the true asymmetry of the mandible after a midline correction performed by a virtual BSSRO, and to verify its availability by evaluation of the post-surgical improvement. A retrospective cohort study was conducted at the Hospital of Stomatology, Sun Yat-sen University (China) of patients with pure hemi-mandibular elongation (HE) from September 2010 through May 2014. Mandibular models were reconstructed from CBCT images of patients with pre-surgical orthodontic treatment. After mandibular de-rotation and midline alignment with virtual BSSRO, the elongation hemi-mandible was virtually mirrored along the facial sagittal plane. The residual asymmetry, defined as the superimposition and boolean operation of the mirrored elongation side on the normal side, was calculated, including the volumetric differences and the length of transversal and vertical asymmetry discrepancy. For more specific evaluation, both sides of the hemi-mandible were divided into the symphysis and parasymphysis (SP), mandibular body (MB), and mandibular angle (MA) regions. Other clinical variables include deviation of Me point, dental midline and molar relationship. The measurement of volumetric discrepancy between the two sides of post-surgical hemi-mandible were also calculated to verify the availability of virtual surgery. Paired t-tests were computed and the P value was set at .05. This study included 45 patients. The volume differences were 407.8±64.8 mm3, 2139.1±72.5 mm3, and 422.5±36.9 mm3; residual average transversal discrepancy, 1.9 mm, 1.0 mm, and 2.2 mm; average vertical discrepancy, 1.1 mm, 2.2 mm, and 2.2 mm (before virtual surgery). The

  1. Surgical and nonsurgical management of sagittal slab fractures of the third carpal bone in racehorses: 32 cases (1991-2001).

    Science.gov (United States)

    Kraus, Beth M; Ross, Michael W; Boston, Raymond C

    2005-03-15

    To compare results (ie, return to racing and earnings per race start) of surgical versus nonsurgical management of sagittal slab fractures of the third carpal bone in racehorses. Retrospective study. 32 racehorses (19 Thoroughbreds, 11 Standardbreds, and 2 Arabians). Medical records and radiographs were reviewed to obtain information regarding signalment and treatment. Follow-up information was obtained from race records. Robust regression analysis was performed to evaluate earnings per start in horses that raced at least once before and after injury. 22 (69%) horses raced at least once after treatment of the fracture. All 7 horses treated by means of interfragmentary compression raced after treatment, and horses that underwent interfragmentary compression had significantly higher earnings per start after the injury than did horses treated without surgery. Eight of 9 horses treated by means of arthroscopic debridement of the damaged cartilage and bone raced after treatment, but only 7 of 16 horses treated without surgery (ie, stall rest) were able to return to racing after treatment. Results suggest that racehorses with sagittal slab fractures of the third carpal bone have a favorable prognosis for return to racing after treatment. Horses treated surgically were more likely to race after treatment than were horses treated without surgery.

  2. The role of the lateral pterygoid muscle in the sagittal fracture of mandibular condyle (SFMC) healing process.

    Science.gov (United States)

    Liu, Chng-Kui; Liu, Ping; Meng, Fan-Wen; Deng, Bang-Lian; Xue, Yang; Mao, Tian-Qiu; Hu, Kai-Jin

    2012-06-01

    The aim of this study was to examine the role of the lateral peterygoid muscle in the reconstruction of the shape of the condyle during healing of a sagittal fracture of the mandibular condyle. Twenty adult sheep were divided into 2 groups: all had a unilateral operation on the right side when the anterior and posterior attachments of the discs were cut, and an oblique vertical osteotomy was made from the lateral pole of the condyle to the medial side of the condylar neck. Ten sheep had the lateral pterygoid muscle cut, and the other 10 sheep did not. Sheep were killed at 4 weeks (n=2 from each group), 12 weeks (n=4), and 24 weeks (n=4) postoperatively. Computed tomograms (CT) were taken before and after operations. We dissected the joints, and recorded with the naked eye the shape, degree of erosion, and amount of calcification of the temporomandibular joint (TMJ). In the group in which the lateral peterygoid muscle had not been cut the joints showed overgrowth of new bone and more advanced ankylosis. Our results show that the lateral pterygoid muscle plays an important part in reconstructing the shape of the condyle during the healing of a sagittal fracture of the mandibular condyle, and combined with the dislocated and damaged disc is an important factor in the aetiology of traumatic ankylosis of the TMJ. Copyright © 2011. Published by Elsevier Ltd.

  3. Central uplift of custom immobilization radiotherapy patients with lower limb overhead sagittal laser affected without mobile

    International Nuclear Information System (INIS)

    Velazquez Miranda, S.; Delgado Gil, M. M.; Ortiz Seidel, M.

    2011-01-01

    If you have a laser moving overhead sagittal or the location of tumors in the lower extremities is laborious, as to reference properly in the CT, is necessary before tattooing in the treatment table using their ability to relate the lateral midline with tattoos on the limb. For anatomical forms often happens that lasers are not displayed on the areas of our interest. The problem can be overcome if between the legs raise the bag or custom immobilizer above the height of the patient's abdomen, as this will have a central reference reliable and well designed lasers.

  4. Associations of anthropometry since birth with sagittal posture at age 7 in a prospective birth cohort: the Generation XXI Study.

    Science.gov (United States)

    Araújo, Fábio A; Lucas, Raquel; Simpkin, Andrew J; Heron, Jon; Alegrete, Nuno; Tilling, Kate; Howe, Laura D; Barros, Henrique

    2017-07-26

    Adult sagittal posture is established during childhood and adolescence. A flattened or hypercurved spine is associated with poorer musculoskeletal health in adulthood. Although anthropometry from birth onwards is expected to be a key influence on sagittal posture design, this has never been assessed during childhood. Our aim was to estimate the association between body size throughout childhood with sagittal postural patterns at age 7. Prospective cohort study. A subsample of 1029 girls and 1101 boys taking part in the 7-year-old follow-up of the birth cohort Generation XXI (Porto, Portugal) was included. We assessed the associations between anthropometric measurements (weight, height and body mass index) at birth, 4 and 7 years of age and postural patterns at age 7. Postural patterns were defined using latent profile analysis, a probabilistic model-based technique which allows for simultaneously including anthropometrics as predictors of latent profiles by means of logistic regression. Postural patterns identified were sway, flat and "neutral to hyperlordotic"in girls, and "sway to neutral", flat and hyperlordotic in boys; with flat and hyperlordotic postures representing a straightened and a rounded spine, respectively. In both girls and boys, higher weight was associated with lower odds of a flat pattern compared with a sway/"sway to neutral"pattern, with stronger associations at older ages: for example, ORs were 0.68 (95% CI 0.53 to 0.88) per SD increase in birth weight and 0.36 (95% CI 0.19 to 0.68) per SD increase in weight at age 7 in girls, with similar findings in boys. Boys with higher ponderal index at birth were more frequently assigned to the hyperlordotic pattern (OR=1.44 per SD; p=0.043). Our findings support a prospective sculpting role of body size and therefore of load on musculoskeletal spinopelvic structures, with stronger associations as children get older. © Article author(s) (or their employer(s) unless otherwise stated in the text of the

  5. The Comparison of Sagittal Spinopelvic Parameters between Young Adult Patients with L5 Spondylolysis and Age-Matched Control Group

    OpenAIRE

    Oh, Young Min; Choi, Ha Young; Eun, Jong Pil

    2013-01-01

    Objective To compare spinopelvic parameters in young adult patients with spondylolysis to those in age-matched patients without spondylolysis and investigate the clinical impact of sagittal spinopelvic parameters in patients with L5 spondylolysis. Methods From 2009 to 2012, a total of 198 young adult male patients with spondylolysis were identified. Eighty age-matched patients without spondylolysis were also selected. Standing lateral films that included both hip joints were obtained for each...

  6. Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

    Science.gov (United States)

    Doucette, Lance; Merner, Nancy D; Cooke, Sandra; Ives, Elizabeth; Galutira, Dante; Walsh, Vanessa; Walsh, Tom; MacLaren, Linda; Cater, Tracey; Fernandez, Bridget; Green, Jane S; Wilcox, Edward R; Shotland, Lawrence I; Shotland, Larry; Li, Xiaoyan Cindy; Li, X C; Lee, Ming; King, Mary-Claire; Young, Terry-Lynn

    2009-05-01

    We studied a consanguineous family (Family A) from the island of Newfoundland with an autosomal recessive form of prelingual, profound, nonsyndromic sensorineural hearing loss. A genome-wide scan mapped the deafness trait to 10q21-22 (max LOD score of 4.0; D10S196) and fine mapping revealed a 16 Mb ancestral haplotype in deaf relatives. The PCDH15 gene was mapped within the critical region and was an interesting candidate because truncating mutations cause Usher syndrome type IF (USH1F) and two missense mutations have been previously associated with isolated deafness (DFNB23). Sequencing of the PCDH15 gene revealed 33 sequencing variants. Three of these variants were homozygous exclusively in deaf siblings but only one of them was not seen in ethnically matched controls. This novel c.1583 T>A transversion predicts an amino-acid substitution of a valine with an aspartic acid at codon 528 (V528D). Like the two DFNB23 mutations, the V528D mutation in Family A occurs in a highly conserved extracellular cadherin (EC) domain of PCDH15 and is predicted to be more deleterious than the previously identified DFNB23 missense mutations (R134G and G262D). Physical assessment, vestibular and visual function testing in deaf adults ruled out syndromic deafness because of Usher syndrome. This study validates the DFNB23 designation and supports the hypothesis that missense mutations in conserved motifs of PCDH15 cause nonsyndromic hearing loss. This emerging genotype-phenotype correlation in USH1F is similar to that in several other USH1 genes and cautions against a prognosis of a dual sensory loss in deaf children found to be homozygous for hypomorphic mutations at the USH1F locus.

  7. Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

    Directory of Open Access Journals (Sweden)

    Aparna Ganapathy

    Full Text Available Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to autosomal recessive, non-syndromic hearing loss (ARNSHL in India, we examined 374 families with the disorder to identify potential mutations. We found four mutations in TMPRSS3, eight in TMC1, ten in USHIC, eight in CDH23 and three in TMIE. Of the 33 potentially pathogenic variants identified in these genes, 23 were new and the remaining have been previously reported. Collectively, mutations in these five genes contribute to about one-tenth of ARNSHL among the families examined. New mutations detected in this study extend the allelic heterogeneity of the genes and provide several additional variants for structure-function correlation studies. These findings have implications for early DNA-based detection of deafness and genetic counseling of affected families in the Indian subcontinent.

  8. A critical evaluation of long-term aesthetic outcomes of fronto-orbital advancement and cranial vault remodeling in nonsyndromic unicoronal craniosynostosis.

    Science.gov (United States)

    Taylor, Jesse A; Paliga, J Thomas; Wes, Ari M; Tahiri, Youssef; Goldstein, Jesse A; Whitaker, Linton A; Bartlett, Scott P

    2015-01-01

    This study reports long-term aesthetic outcomes with fronto-orbital advancement and cranial vault remodeling in treating unicoronal synostosis over a 35-year period. Retrospective review was performed on patients with isolated unicoronal synostosis from 1977 to 2012. Demographic, preoperative phenotypic, and long-term aesthetic outcomes data were analyzed with chi-squared and Fisher's exact test for categorical data and Wilcoxon rank-sum and Kruskal-Wallis rank for continuous data. A total of 238 patients were treated; 207 met inclusion criteria. None underwent secondary intervention for intracranial pressure. At definitive intervention, there 96 (55 percent) Whitaker class I patients, 11 (6 percent) class II, 62 (35 percent) class III, and six (3 percent) class IV. Nasal root deviation and occipital bossing each conferred an increased risk of Whitaker class III/IV [OR, 4.4 (1.4 to 13.9), p = 0.011; OR, 2.6 (1.0 to 6.8), p = 0.049]. Patients who underwent bilateral cranial vault remodeling with extended unilateral bandeau were less likely Whitaker class III/IV at latest follow-up compared with those undergoing strictly unilateral procedures [OR, 0.2 (0.1 to 0.7), p = 0.011]. Overcorrection resulted in decreased risk of temporal hollowing [OR, 0.3 (0.1 to 1.0), p = 0.05]. Patients with 5 years or more of follow-up were more likely to develop supraorbital retrusion [OR, 7.2 (2.2 to 23.4), p = 0.001] and temporal hollowing [OR, 3.7 (1.5 to 9.6), p = 0.006] and have Whitaker class III/IV outcomes [OR, 4.9 (1.8 to 12.8), p = 0.001]. Traditional fronto-orbital advancement and cranial vault remodeling appears to mitigate risk of intracranial pressure but may lead to aesthetic shortcomings as patients mature, namely fronto-orbital retrusion and temporal hollowing. Therapeutic, IV.

  9. Sagittal lumbar and pelvic alignment in the standing and sitting positions.

    Science.gov (United States)

    Endo, Kenji; Suzuki, Hidekazu; Nishimura, Hirosuke; Tanaka, Hidetoshi; Shishido, Takaaki; Yamamoto, Kengo

    2012-11-01

    The sitting position has become the most common posture in today's workplace. In relation to this position, kinematic analysis of the lumbar spine is helpful in understanding the causes of low back pain and its prevention. In this study, we investigated the relationship between sagittal lumbar alignment and pelvic alignment in the standing and sitting positions for 50 healthy adults. Lumbar lordotic angle (LLA), sacral slope (SS), pelvic tilt (PT), and pelvic incidence (PI) were measured on lateral lumbar spine standing and sitting radiographs. Regarding changes from the standing to sitting positions, average LLA, SS, and PT were -16.6° (-49.8 %), -18.7° (-50.3 %), and 18.3° (284.8 %), respectively (P position, lumbar lordosis was reduced and pelvic rotation became posterior. This study showed that LLA decreased by approximately 50 % and PT increased by approximately 25 % in the sitting position compared with the standing position. No significant gender differences were observed for LLA, SS, and PT in the standing position. In the sitting position, however, LLA and SS were markedly larger for women.

  10. Is the Lingual Fracture Line Influenced by the Mandibular Canal or the Mylohyoid Groove During a Bilateral Sagittal Split Osteotomy? A Human Cadaveric Study

    NARCIS (Netherlands)

    Mensink, Gertjan; Gooris, Peter J. J.; Bergsma, Eelco J.; Frank, Michael H.; van Gemert, Jan T. M.; van Merkesteyn, J. P. Richard

    2014-01-01

    Purpose: Although the bilateral sagittal split osteotomy (BSSO) is a routinely performed procedure, exact control of the lingual fracture line remains problematic. The purpose of this study was to determine the various lingual splitting patterns in cadaveric human mandibles after a BSSO and the

  11. Prevalence and characteristics of non-syndromic orofacial clefts and the influence of consanguinity.

    Science.gov (United States)

    Alamoudi, N M; Sabbagh, H J; Innes, N P T; El Derwi, D; Hanno, A Z; Al-Aama, J Y; Habiballah, A H; Mossey, P A

    2014-01-01

    The Objective of this study was to identify the prevalence and describe the characteristics of non-syndromic orofacial cleft (NSOFC) in Jeddah, Saudi Arabia and examine the influence of consanguinity. Six hospitals were selected to represent Jeddah's five municipal districts. New born infants with NSOFC born between 1st of January 2010 to 31st of December 2011 were clinically examined and their number compared to the total number of infants born in these hospitals to calculate the prevalence of NSOFC types and sub-phenotypes. Referred Infants were included for the purpose of studying NSOFC characteristics and their relationship to consanguinity. Information on NSOFC infants was gathered through parents' interviews, infants 'files and patient examinations. Prospective surveillance of births resulted in identifying 37 NSOFC infants born between 1st of January 2010 to 31st of December 2011 giving a birth prevalence of 0.80/1000 living births. The total infants seen, including referred cases, were 79 children. Consanguinity among parents of cleft palate (CP) cases was statistically higher than that among cleft lip with or without cleft palate (CL/P) patients (P = 0.039). Although there appears to be a trend in the relationship between consanguinity and severity of CL/P sub-phenotype, it was not statistically significant (P = 0.248). Birth prevalence of NSOFC in Jeddah City was 0.8/1000 live births with CL/P: 0.68/1000 and CP: 0.13/1000. Both figures were low compared to the global birth prevalence (NSOFC: 1.25/1000, CL/P: 0.94/1000 and CP: 0.31/1000 live births). Consanguineous parents were statistically higher among CP cases than among other NSOFC phenotypes.

  12. MR findings of facial nerve on oblique sagittal MRI using TMJ surface coil: normal vs peripheral facial nerve palsy

    International Nuclear Information System (INIS)

    Park, Yong Ok; Lee, Myeong Jun; Lee, Chang Joon; Yoo, Jeong Hyun

    2000-01-01

    To evaluate the findings of normal facial nerve, as seen on oblique sagittal MRI using a TMJ (temporomandibular joint) surface coil, and then to evaluate abnormal findings of peripheral facial nerve palsy. We retrospectively reviewed the MR findings of 20 patients with peripheral facial palsy and 50 normal facial nerves of 36 patients without facial palsy. All underwent oblique sagittal MRI using a T MJ surface coil. We analyzed the course, signal intensity, thickness, location, and degree of enhancement of the facial nerve. According to the angle made by the proximal parotid segment on the axis of the mastoid segment, course was classified as anterior angulation (obtuse and acute, or buckling), straight and posterior angulation. Among 50 normal facial nerves, 24 (48%) were straight, and 23 (46%) demonstrated anterior angulation; 34 (68%) showed iso signal intensity on T1W1. In the group of patients, course on the affected side was either straight (40%) or showed anterior angulation (55%), and signal intensity in 80% of cases was isointense. These findings were similar to those in the normal group, but in patients with post-traumatic or post-operative facial palsy, buckling, of course, appeared. In 12 of 18 facial palsy cases (66.6%) in which contrast materials were administered, a normal facial nerve of the opposite facial canal showed mild enhancement on more than one segment, but on the affected side the facial nerve showed diffuse enhancement in all 14 patients with acute facial palsy. Eleven of these (79%) showed fair or marked enhancement on more than one segment, and in 12 (86%), mild enhancement of the proximal parotid segment was noted. Four of six chronic facial palsy cases (66.6%) showed atrophy of the facial nerve. When oblique sagittal MR images are obtained using a TMJ surface coil, enhancement of the proximal parotid segment of the facial nerve and fair or marked enhancement of at least one segment within the facial canal always suggests pathology of

  13. Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

    Science.gov (United States)

    Stone, Edwin M.; Cideciyan, Artur V.; Aleman, Tomas S.; Scheetz, Todd E.; Sumaroka, Alexander; Ehlinger, Mary A.; Schwartz, Sharon B.; Fishman, Gerald A.; Traboulsi, Elias I.; Lam, Byron L.; Fulton, Anne B.; Mullins, Robert F.; Sheffield, Val C.; Jacobson, Samuel G.

    2014-01-01

    Objective To investigate whether mutations in NPHP5 can cause Leber congenital amaurosis (LCA) without early-onset renal disease. Methods DNA samples from 276 individuals with non-syndromic LCA were screened for variations in the NPHP5 gene. Each had been previously screened for mutations in 8 known LCA genes without identifying a disease-causing genotype. Results Nine of the 276 LCA probands (3.2%) harbored 2 plausible disease-causing mutations (7 different alleles) in NPHP5. Four of these have been previously reported in patients with Senior-Loken syndrome (F141del, R461X, H506del, and R489X) and 3 are novel (A111del, E346X, and R455X). All 9 patients had severe visual loss from early childhood but none had overt renal disease in the first decade of life. Two patients were diagnosed with nephronophthisis in the second decade. Retinal imaging studies showed retained photoreceptor nuclei and retinal pigment epithelium integrity mainly in the cone-rich central retina, a phenotype with strong similarities to that of NPHP6 disease. Conclusions Mutations in NPHP5 can cause LCA without early-onset renal disease. Abnormalities observed in the photoreceptor outer segments (a cilial structure) may explain the severe visual loss in NPHP5-associated LCA. Clinical Relevance The persistence of central photoreceptor nuclei despite severe visual loss in NPHP5 disease is encouraging for future therapeutic interventions. PMID:21220633

  14. Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate.

    Directory of Open Access Journals (Sweden)

    Gerson Shigeru Kobayashi

    Full Text Available Non-syndromic cleft lip/palate (NSCL/P is a complex, frequent congenital malformation, determined by the interplay between genetic and environmental factors during embryonic development. Previous findings have appointed an aetiological overlap between NSCL/P and cancer, and alterations in similar biological pathways may underpin both conditions. Here, using a combination of transcriptomic profiling and functional approaches, we report that NSCL/P dental pulp stem cells exhibit dysregulation of a co-expressed gene network mainly associated with DNA double-strand break repair and cell cycle control (p = 2.88×10(-2-5.02×10(-9. This network included important genes for these cellular processes, such as BRCA1, RAD51, and MSH2, which are predicted to be regulated by transcription factor E2F1. Functional assays support these findings, revealing that NSCL/P cells accumulate DNA double-strand breaks upon exposure to H2O2. Furthermore, we show that E2f1, Brca1 and Rad51 are co-expressed in the developing embryonic orofacial primordia, and may act as a molecular hub playing a role in lip and palate morphogenesis. In conclusion, we show for the first time that cellular defences against DNA damage may take part in determining the susceptibility to NSCL/P. These results are in accordance with the hypothesis of aetiological overlap between this malformation and cancer, and suggest a new pathogenic mechanism for the disease.

  15. Effect of Acute Alterations in Foot Strike Patterns during Running on Sagittal Plane Lower Limb Kinematics and Kinetics

    Directory of Open Access Journals (Sweden)

    Kevin A. Valenzuela, Scott K. Lynn, Lisa R. Mikelson, Guillermo J. Noffal, Daniel A. Judelson

    2015-03-01

    Full Text Available subjects were identified through slow motion video playback (n = 21, age = 22.8±2.2 years, mass = 73.1±14.5 kg, height 1.75 ± 0.10 m. On day two, subjects performed five overground run trials in both their natural and unnatural strike patterns while motion and force data were collected. Data were collected over two days so that foot strike videos could be analyzed for group placement purposes. Several 2 (Foot Strike Pattern –forefoot strike [FFS], rearfoot strike [RFS] x 2 (Group – PFFG, PRFG mixed model ANOVAs (p < 0.05 were run on speed, active peak vertical ground reaction force (VGRF, peak early stance and mid stance sagittal ankle moments, sagittal plane hip and knee moments, ankle dorsiflexion ROM, and sagittal plane hip and knee ROM. There were no significant interactions or between group differences for any of the measured variables. Within subject effects demonstrated that the RFS condition had significantly lower (VGRF (RFS = 2.58 ± .21 BW, FFS = 2.71 ± 0.23 BW, dorsiflexion moment (RFS = -2.6 1± 0.61 Nm·kg-1, FFS = -3.09 ± 0.32 Nm·kg-1, and dorsiflexion range of motion (RFS = 17.63 ± 3.76°, FFS = 22.10 ± 5.08°. There was also a significantly higher peak plantarflexion moment (RFS = 0.23 ± 0.11 Nm·kg-1, FFS = 0.01 ± 0.01 Nm·kg-1, peak knee moment (RFS = 2.61 ± 0.54 Nm·kg-1, FFS = 2.39 ± 0.61 Nm·kg-1, knee ROM (RFS = 31.72 ± 2.79°, FFS = 29.58 ± 2.97°, and hip ROM (RFS = 42.72 ± 4.03°, FFS = 41.38 ± 3.32° as compared with the FFS condition. This research suggests that acute changes in foot strike patterns during shod running can create alterations in certain lower limb kinematic and kinetic measures that are not dependent on the preferred foot strike pattern of the individual. This research also challenges the contention that the impact transient spike in the vertical ground reaction force curve is only present during a rear foot strike type of running gait.

  16. Crecimiento sagital maxilar en fisurados unilaterales operados funcionalmente Sagittal maxillary growth in unilateral cleft lip and palate patients following functional surgery

    Directory of Open Access Journals (Sweden)

    F. Donoso Hofer

    2007-06-01

    Full Text Available Objetivo. Comparar el crecimiento sagital maxilar en pacientes con fisura labio-máxilo-palatina unilateral operados a los 6 meses con criterio funcional con pacientes normales que tengan relación consanguínea directa con los anteriores. Diseño del estudio. Análisis arquitectural y craneofacial de Delaire en telerradiografías de perfil en ambos grupos de pacientes cuyas edades fluctúan actualmente entre los 7 y los 12 años, determinando el crecimiento sagital del maxilar a través de la medida del ángulo del pilar maxilar anterior (C1/F1, sometiendo las medidas al test T de Student con una significación del 99,5%. Resultados.Se determinó el valor real y esperado para el ángulo del pilar maxilar anterior en todos los casos. Al comparar estadísticamente los resultados, no se encontraron diferencias significativas en los valores promedios obtenidos. Conclusiones.El crecimiento sagital maxilar de los pacientes con fisura labio-máxilo-palatina unilateral operados a los 6 meses con criterio funcional no difiere del de aquellos pacientes normales.Objective. To compare the sagittal maxillary growth between unilateral cleft lip and palate patients operated under functional criterion at the age of 6 months and normal patients who were blood-related. Design. Delaire’s Architectural and Structural craniofacial analysis in conventional lateral radiographs of all the patients with an age range of 7-12 years, determining the sagittal maxillary growth by the anterior maxillary pillar angle (C1/F1. These measurements were analyzed using the T-test with a 99.5% significance. Results. The real and expected value of the anterior maxillary pillar angle was determined in all cases. By comparing the results statistically, no significant differences were found in the mean values obtained. Conclusion. Maxillary sagittal growth in unilateral cleft lip and palate patients operated at the age of 6 months under functional criterion, does not differ from the

  17. Lumbar Sagittal Shape Variation Vis-à-Vis Sex During Growth: A 3-Year Follow-up Magnetic Resonance Imaging Study in Children From the General Population

    DEFF Research Database (Denmark)

    Masharawi, Y; Kjær, Per; Manniche, C

    2012-01-01

    ABSTRACT: Study Design. A longitudinal descriptive MRI study on the changes of the supine lumbar lordosis (SLL), supine sacral slope (SSS), and sagittal wedging of the vertebral body (VB) and intervertebral discs (IVD) in children from the general population.Objective. To compare the shape...

  18. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

    Science.gov (United States)

    Ehmke, Nadja; Graul-Neumann, Luitgard; Smorag, Lukasz; Koenig, Rainer; Segebrecht, Lara; Magoulas, Pilar; Scaglia, Fernando; Kilic, Esra; Hennig, Anna F; Adolphs, Nicolai; Saha, Namrata; Fauler, Beatrix; Kalscheuer, Vera M; Hennig, Friederike; Altmüller, Janine; Netzer, Christian; Thiele, Holger; Nürnberg, Peter; Yigit, Gökhan; Jäger, Marten; Hecht, Jochen; Krüger, Ulrike; Mielke, Thorsten; Krawitz, Peter M; Horn, Denise; Schuelke, Markus; Mundlos, Stefan; Bacino, Carlos A; Bonnen, Penelope E; Wollnik, Bernd; Fischer-Zirnsak, Björn; Kornak, Uwe

    2017-11-02

    Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. Two of the girls had pronounced neonatal progeroid features and were initially diagnosed with Wiedemann-Rautenstrauch syndrome. SLC25A24 encodes a mitochondrial inner membrane ATP-Mg/P i carrier. In fibroblasts from affected individuals, the mutated SLC25A24 showed normal stability. In contrast to control cells, the probands' cells showed mitochondrial swelling, which was exacerbated upon treatment with hydrogen peroxide (H 2 O 2 ). The same effect was observed after overexpression of the mutant cDNA. Under normal culture conditions, the mitochondrial membrane potential of the probands' fibroblasts was intact, whereas ATP content in the mitochondrial matrix was lower than that in control cells. However, upon H 2 O 2 exposure, the membrane potential was significantly elevated in cells harboring the mutated SLC25A24. No reduction of mitochondrial DNA copy number was observed. These findings demonstrate that mitochondrial dysfunction with increased sensitivity to oxidative stress is due to the SLC25A24 mutations. Our results suggest that the SLC25A24 mutations induce a gain of pathological function and link mitochondrial ATP-Mg/P i transport to the development of skeletal and connective tissue. Copyright © 2017 American Society of Human Genetics. All rights reserved.

  19. Evaluation of T2-weighted versus short-tau inversion recovery sagittal sequences in the identification and localization of canine intervertebral disc extrusion with low-field magnetic resonance imaging.

    Science.gov (United States)

    Housley, Daniel; Caine, Abby; Cherubini, Giunio; Taeymans, Olivier

    2017-07-01

    Sagittal T2-weighted sequences (T2-SAG) are the foundation of spinal protocols when screening for the presence of intervertebral disc extrusion. We often utilize sagittal short-tau inversion recovery sequences (STIR-SAG) as an adjunctive screening series, and experience suggests that this combined approach provides superior detection rates. We hypothesized that STIR-SAG would provide higher sensitivity than T2-SAG in the identification and localization of intervertebral disc extrusion. We further hypothesized that the parallel evaluation of paired T2-SAG and STIR-SAG series would provide a higher sensitivity than could be achieved with either independent sagittal series when viewed in isolation. This retrospective diagnostic accuracy study blindly reviewed T2-SAG and STIR-SAG sequences from dogs (n = 110) with surgically confirmed intervertebral disc extrusion. A consensus between two radiologists found no significant difference in sensitivity between T2-SAG and STIR-SAG during the identification of intervertebral disc extrusion (T2-SAG: 92.7%, STIR-SAG: 94.5%, P = 0.752). Nevertheless, STIR-SAG accurately identified intervertebral disc extrusion in 66.7% of cases where the evaluation of T2-SAG in isolation had provided a false negative diagnosis. Additionally, one radiologist found that the parallel evaluation of paired T2-SAG and STIR-SAG series provided a significantly higher sensitivity than T2-SAG in isolation, during the identification of intervertebral disc extrusion (T2-SAG: 78.2%, paired T2-SAG, and STIR-SAG: 90.9%, P = 0.017). A similar nonsignificant trend was observed when the consensus of both radiologists was taken into consideration (T2-SAG: 92.7%, paired T2-SAG, and STIR-SAG = 97.3%, P = 0.392). We therefore conclude that STIR-SAG is capable of identifying intervertebral disc extrusion that is inconspicuous in T2-SAG, and that STIR-SAG should be considered a useful adjunctive sequence during preliminary sagittal screening for intervertebral disc

  20. Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss

    International Nuclear Information System (INIS)

    Zhao Lidong; Wang Qiuju; Qian Yaping; Li Ronghua; Cao Juayng; Hart, Laura Christine; Zhai Suoqiang; Han Dongyi; Young Wieyen; Guan Minxin

    2005-01-01

    We report here the clinical, genetic, and molecular characterization of two Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects. Penetrances of hearing loss in BJ105 and BJ106 pedigrees are 67% and 33%, respectively. In particular, three of 10 affected matrilineal relatives of BJ105 pedigree had aminoglycoside-induced hearing loss, while seven affected matrilineal relatives in BJ105 pedigree and six affected matrilineal relatives in BJ106 pedigree did not have a history of exposure to aminoglycosides. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the identical homoplasmic A1555G mutation and distinct sets of mtDNA variants belonging to haplogroups F3 and M7b. These variants showed no evolutionary conservation, implying that mitochondrial haplotype may not play a significant role in the phenotypic expression of the A1555G mutation in these Chinese pedigrees. However, aminoglycosides and nuclear backgrounds appear to be major modifier factors for the phenotypic manifestation of the A1555G mutation in these Chinese families