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Sample records for irreducible developmental dysplasia

  1. Developmental hip dysplasia in adolescence

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    Vukašinović Zoran

    2009-01-01

    Full Text Available The authors define adolescence and developmental dysplasia of the hip (DDH. Special attention is paid to pathological findings characteristic of DDH in adolescence (unrecognized and untreated DDH; treated DDH, but non-terminated treatment; DDH diagnosed with delay, inadequately treated, with complications. The authors emphasise that DDH treatment has to be successfully terminated well before the adolescence; possibilities are explained on management modes at the time of adolescence, and possible persons guilty for the persistence of later hip problems are indicated. Based on the authors' experience and having in mind all surgical possibilities for the treatment (pelvic osteotomies, femoral osteotomies, trochanteroplasties, leg length equalization procedures the authors propose treatment protocols. The intention is to provide better treatment results and to prevent secondary hip arthrosis. Furthermore, how to improve the struggle against DDH is suggested.

  2. Screening for Developmental Dysplasia of the Hip

    NARCIS (Netherlands)

    Boere-Boonekamp, Magdalena M.; Verkerk, Paul H.

    1998-01-01

    The success rates of screening programmes for Developmental Dysplasia of the Hip (DDH) vary widely. Studies on screening programmes for DDH based on a Medline search for the years 1966–1997 are reviewed. The percentage treated in most studies, especially those using ultrasound, are high and suggest

  3. Relationship between flexible flat foot and developmental hip dysplasia.

    Science.gov (United States)

    Ponce de León Samper, M C; Herrera Ortiz, G; Castellanos Mendoza, C

    2015-01-01

    To evaluate the possible relationship between flexible flat foot and developmental hip dysplasia in children between six and 15 years of age. Cross-sectional study including 65 patients that had undergone surgery due to residual hip dysplasia or hip dislocation and compared against 75 healthy patients. Flexible flat foot prevalence was measured in each group, with the results showing that 61% of the group with residual hip dysplasia or hip dislocation had this condition, vs. 12% in the healthy group. The statistical analysis shows that the chances of suffering from flexible flat foot, are five times greater in the hip dysplasia or hip dislocation group, than in the healthy group. There is no evidence in the literature showing a relationship between these two conditions, even though they have a common etiology. This study shows a potential measurable relation between this two conditions. Patients with hip dysplasia or dislocation may have a higher chance of presenting flexible flat foot during late childhood, adolescence and adulthood, a fact that suggests a relationship between these two pathologies. Also, patients who seek assistance for the first time because of a flexible flat foot condition without having been evaluated during the first year of life for hip dysplasia, would be better off if evaluated for residual hip dysplasia. Copyright © 2014 SECOT. Published by Elsevier Espana. All rights reserved.

  4. Congenital dislocation of knee with ipsilateral developmental dysplasia of hip

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    Sameer Kakar

    2017-01-01

    Full Text Available We present a rare case of a newborn having congenital knee dislocation (CDK with ipsilateral developmental dysplasia of hip (DDH. This case report shows how abnormal intrauterine pressure leads to dislocation of various joints in utero. We managed this conservatively with Pavlik Harness for DDH and serial corrective casting with manipulation for CDK with a satisfactory result after follow-up of 6 months.

  5. Concomitant achondroplasia and developmental dysplasia of the hip

    OpenAIRE

    Malcolm, Tennison L.; Phan, Duy L.; Schwarzkopf, Ran

    2015-01-01

    Achondroplasia (ACH) is the most common form of hereditary dwarfism and presents with multiple musculoskeletal anomalies but is not normally associated with premature hip arthritis. Developmental dysplasia of the hip (DDH) is a spectrum of disease resulting in shallow acetabular depth and a propensity for chronic femoral subluxation or dislocation; it is among the most common causes of premature arthritis. This case report describes the diagnosis of symptomatic DDH in a patient with ACH and h...

  6. Developmental tumors and adjacent cortical dysplasia: single or dual pathology?

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    Palmini, André; Paglioli, Eliseu; Silva, Vinicius Duval

    2013-12-01

    Developmental tumors often lead to refractory partial seizures and constitute a well-defined, surgically remediable epilepsy syndrome. Dysplastic features are often associated with these tumors, and their significance carries both practical and conceptual relevance. If associated focal cortical dysplasia (FCD) relates to the extent of the epileptogenic tissue, then presurgical evaluation and surgical strategies should target both the tumor and the surrounding dyslaminated cortex. Furthermore, the association has been included in the recently revised classification of FCD and the epileptogenicity of this associated dysplastic tissue is crucial to validate such revision. In addition to the possibility of representing dual pathology, the association of developmental tumors and adjacent dysplasia may instead represent a single developmental lesion with distinct parts distributed along a histopathologic continuum. Moreover, the possibility that this adjacent dyslamination is of minor epileptogenic relevance should also be entertained. Surgical data show that complete resection of the solid tumors and immediately adjacent tissue harboring satellites may disrupt epileptogenic networks and lead to high rates of seizure freedom, challenging the epileptogenic relevance of more extensive adjacent dyslaminated cortex. Whether the latter is a primary or secondary abnormality and whether dyslaminated cortex in the context of a second lesion may produce seizures after complete resection of the main lesion is still to be proven. Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.

  7. Concomitant achondroplasia and developmental dysplasia of the hip

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    Tennison L. Malcolm, MD

    2015-12-01

    Full Text Available Achondroplasia (ACH is the most common form of hereditary dwarfism and presents with multiple musculoskeletal anomalies but is not normally associated with premature hip arthritis. Developmental dysplasia of the hip (DDH is a spectrum of disease resulting in shallow acetabular depth and a propensity for chronic femoral subluxation or dislocation; it is among the most common causes of premature arthritis. This case report describes the diagnosis of symptomatic DDH in a patient with ACH and highlights difficulties of primary total hip arthroplasty (THA as a treatment option. Intraoperative radiographic imaging is advised to ensure proper prosthesis placement. Femoral osteotomy may aid visualization, reduction, and avoidance of soft tissue injury. Concomitant ACH and DDH is a challenging problem that can be successfully treated with modified THA.

  8. Late presentation of developmental dysplasia of the hip.

    LENUS (Irish Health Repository)

    Gul, R

    2012-02-03

    BACKGROUND: A neonatal screening programme for developmental dysplasia of the hip (DDH) is ongoing in Cork. Despite early screening, infants continue to present at later ages with DDH. The impact of late diagnosis is significant. Established DDH causes significant morbidity and may have major medicolegal implications. AIM: To identify the reasons for the late presentation of DDH in the presence of a screening programme. METHODS: In a retrospective study all cases of late DDH presenting from 1988 to 2000 were identified using inpatient database. RESULTS: Forty-nine cases of DDH were diagnosed. The mean age of diagnosis was 14.8 months (range 6-47). Multiple risk factors were identified in four patients only. More than one risk factor was identified in 10 patients. CONCLUSION: Despite screening, children continue to present with late DDH. In this study, only 14 patients had multiple risk factors and only four patients had more than two risk factors, highlighting the low incidence of suspicion in this patient group.

  9. Adverse Outcomes in Infantile Bilateral Developmental Dysplasia of the Hip.

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    Morbi, Abigail H M; Carsi, Belen; Gorianinov, Vitalli; Clarke, Nicholas M P

    2015-01-01

    It is believed that bilateral developmental dysplasia of the hip (DDH) has poorer outcomes with higher rates of avascular necrosis (AVN) and reintervention, compared with unilateral DDH. However, there is limited evidence in the literature, with few studies looking specifically at bilateral cases. A retrospective review of 36 patients (72 hips) with >4 years of follow-up. Patient population included surgically treated DDH including late presentations and failures of conservative treatment. The dislocated hips underwent either simultaneous closed or 1 open and 1 closed, or sequential open reduction. AVN and secondary procedures were used as endpoints for analysis as well as clinical and radiologic outcomes. At the last follow-up, 33% of hips had radiologic signs of AVN. Those hips that had no ossific nucleus (ON) at the time of surgery had an odds ratio of developing AVN of 3.05 and a statistically significant association between the 2 variables, whereas open/closed or simultaneous/sequential reduction did not increase the risk for AVN. In addition, 45.8% of those hips required further surgery. The estimated odds ratio of needing additional surgery after simultaneous reduction was 4.04. Clinically, 79.2% of the hips were graded as McKay I, whereas radiologically only 38.8% were Severin I. The AVN rate in bilateral DDH treated surgically is greater than the rate noted in unilateral cases from the same institution undergoing identical protocols. There was no difference in AVN rates between simultaneous and sequential or between the first and second hip to be sequentially reduced. Presence of ON decreases the risk for AVN, suggesting that in bilateral cases, awaiting the appearance of the ON is an important tool to reduce the incidence of AVN. IV.

  10. Reconstruction of the Acetabulum in Developmental Dysplasia of the Hip in Total Hip Replacement

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    Vasileios Sakellariou

    2014-09-01

    Full Text Available Developmental dysplasia of the hip (DDH or congenital hip dysplasia (CDH is the most prevalent developmental childhood hip disorder. It includes a wide spectrum of hip abnormalities ranging from dysplasia to subluxation and complete dislocation of the hip joint. The natural history of neglected DDH in adults is highly variable. The mean age of onset of symptoms is 34.5 years for dysplastic DDH, 32.5 years for low dislocation, 31.2 years for high dislocation with a false acetabulum, and 46.4 years for high dislocation without a false acetabulum. Thorough understanding of the bony and soft tissue deformities induced by dysplasia is crucial for the success of total hip arthroplasty. It is important to evaluate the existing acetabular deformity three-dimensionally, and customize the correction in accordance with the quantity and location of ace tabular deficiencies. Acetabular reconstruction in patients with DDH is hallenging. Interpretation of published data is difficult and should be done with caution because most series include patients with different types of hip disease. In general, the complication rate associated with THA is higher in patients with hip dysplasia than it is in patients with osteoarthritis. Overall, clinical and functional outcomes following THA in patients hip dysplasia (DDH differ from those treated for primary hip osteoarthritis, possibly due to the lower age and level of activity. Although function scores decline with age, the scores for pain and range of motion presented with a statistically significant improvement in the long-term.

  11. Psychosocial predictors of parental participation in ultrasound screening for developmental dysplasia of the hip

    NARCIS (Netherlands)

    Witting, M.; Boere-Boonekamp, M.M.; Sakkers, R.J.B.; Fleuren, M.A.H.; IJzerman, M.J.

    2013-01-01

    Ultrasound screening for developmental dysplasia of the hip (DDH) is an innovation in preventive child health care in the Netherlands. Parental participation in the screening will be essential for the success of implementation of the screening. The aim of the current study was to investigate whether

  12. Ultrasound screening for developmental dysplasia of the hip and its socioeconomic impact: Experience of tertiary care health level

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    Khaled Aly Matrawy

    2014-03-01

    Conclusion: Screening ultrasound is a useful tool for detection of hip dislocation and dysplasia especially among the population of infants at increased risk of developmental dysplasia of the hip. Limitation of screening ultrasound programs for those at risk only reduces the financial burden with better outcome in choosing candidates for further workup especially surgical intervention.

  13. Spica MRI after closed reduction for developmental dysplasia of the hip

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    Desai, Aditi A. [Vanderbilt University School of Medicine, Nashville, TN (United States); Martus, Jeffrey E.; Schoenecker, Jon [Vanderbilt University School of Medicine, Department of Orthopaedics and Rehabilitation, Monroe Carroll Jr. Children' s Hospital at Vanderbilt, Nashville, TN (United States); Kan, J.H. [Vanderbilt University School of Medicine, Department of Radiology and Radiological Sciences, Monroe Carroll Jr. Children' s Hospital at Vanderbilt, Nashville, TN (United States)

    2011-04-15

    Spica MRI is a fast and effective tool to assess morphology after closed reduction for developmental dysplasia of the hip (DDH) without the need for sedation. The multiplanar capabilities allow depiction of coronal and axial reduction of the hips. Due to MRI's inherent ability to delineate soft tissue structures, both intrinsic and extrinsic obstacles to failed reduction may be identified. Technical and interpretative challenges of spica MRI are discussed. (orig.)

  14. Internet search term affects the quality and accuracy of online information about developmental hip dysplasia.

    Science.gov (United States)

    Fabricant, Peter D; Dy, Christopher J; Patel, Ronak M; Blanco, John S; Doyle, Shevaun M

    2013-06-01

    The recent emphasis on shared decision-making has increased the role of the Internet as a readily accessible medical reference source for patients and families. However, the lack of professional review creates concern over the quality, accuracy, and readability of medical information available to patients on the Internet. Three Internet search engines (Google, Yahoo, and Bing) were evaluated prospectively using 3 difference search terms of varying sophistication ("congenital hip dislocation," "developmental dysplasia of the hip," and "hip dysplasia in children"). Sixty-three unique Web sites were evaluated by each of 3 surgeons (2 fellowship-trained pediatric orthopaedic attendings and 1 orthopaedic chief resident) for quality and accuracy using a set of scoring criteria based on the AAOS/POSNA patient education Web site. The readability (literacy grade level) of each Web site was assessed using the Fleisch-Kincaid score. There were significant differences noted in quality, accuracy, and readability of information depending on the search term used. The search term "developmental dysplasia of the hip" provided higher quality and accuracy compared with the search term "congenital hip dislocation." Of the 63 total Web sites, 1 (1.6%) was below the sixth grade reading level recommended by the NIH for health education materials and 8 (12.7%) Web sites were below the average American reading level (eighth grade). The quality and accuracy of information available on the Internet regarding developmental hip dysplasia significantly varied with the search term used. Patients seeking information about DDH on the Internet may not understand the materials found because nearly all of the Web sites are written at a level above that recommended for publically distributed health information. Physicians should advise their patients to search for information using the term "developmental dysplasia of the hip" or, better yet, should refer patients to Web sites that they have

  15. Management of developmental dysplasia of the hip in less than 24 months old children

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    Mehmet Bulut

    2013-01-01

    Full Text Available Background: There is no consensus on the treatment of developmental dysplasia of the hip in children less than 24 months of age. The aim of this study was to present the results of open reduction and concomitant primary soft-tissue intervention in patients with developmental dysplasia of the hip in children less than 24 months of age. Materials and Methods: Sixty hips of 50 patients (4 male, 46 female with mean age of 14.62 ± 5.88 (range 5-24 months months with a mean followup of 40.00 ± 6.22 (range 24-58 months months were included. Twenty five right and 35 left hips (10 bilaterally involved were operated. Open reduction was performed using the medial approach in patients aged < 20 months (with Tönnis type II-III and IV hip dysplasias and for those aged 20-24 months with Tönnis type II and III hip dysplasias ( n = 47. However for 13 patients aged 20-24 months with Tönnis type IV hip dysplasias, anterior bikini incision was used. Results: Mean acetabular index was 41.03 ± 3.78° (range 34°-50° in the preoperative period and 22.98 ± 3.01° (range 15°-32° at the final visits. Mean center-edge angle at the final visits was 22.85 ± 3.35° (18°-32°. Based on Severin radiological classification, 29 (48.3% were type I (very good, 25 (41.7% were type II (good and 6 (10% were type III (fair hips. According to the McKay clinical classification, postoperatively the hips were evaluated as excellent ( n = 42; 70%, good ( n = 14; 23.3% and fair ( n = 4; 6.7%. Reduction of all hip dislocations was achieved. Additional pelvic osteotomies were performed in 14 (23.3% hips for continued acetabular dysplasia and recurrent subluxation. (Salter [ n = 12]/Pemberton [ n = 2] osteotomy was performed. Avascular necrosis (AVN developed in 7 (11.7% hips. Conclusion: In DDH only soft-tissue procedures are not enough, because of the high rate of the secondary surgery and AVN for all cases aged less than 24 months. Bone procedures may be necessary in the walking

  16. Hip Ultrasonography in the Diagnosis of Developmental Dysplasia of the Hip: Bakırköy Experience

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    Altuğ Duramaz

    2014-12-01

    Full Text Available Aim: The purpose of the study was to determine the prevalence, incidence, and etiology as well as the risk factors for developmental dysplasia of the hip in newborns in whom we performed ultrasonography for screening using Graff’s method in our clinic. Methods: We retrospectively evaluated 2632 hip ultrasonography records of 1316 babies performed between 2008 and 2013. We analyzed the questionnaires of the Turkish Pediatric Orthopaedic Society which were filled by the physician during examination. The babies were divided into two groups according to ultrasonographic hip angles as pathological and normal. Results: The study is made on 1316 babies [680 girls (51.6%, 636 boys (48.4%]. The risk for developmental dysplasia of the hip was higher in girls, babies with a family history, babies with metatarsus adductus and those have been swaddled before. The mean gestational age and gestational weight was statistically significantly lower in the pathological group (p=0.0011. Conclusion: In our cross-sectional study, the incidence of developmental dysplasia of the hip was 0.5%. Female gender, positive family history of developmental dysplasia of the hip,metatarsus adductus and swaddling are still risk factors. Researching risk factors carefully, patient education and adding hip ultrasonograpy to newborn routine screening program are important measures in preventing developmental dysplasia of the hip.

  17. Late-presenting developmental dysplasia of the hip in Jordanian males. A retrospective hospital based study

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    Omar Q. Samarah

    2016-02-01

    Full Text Available Objectives: To describe the pattern of developmental dysplasia of the hip (DDH in late presenting Jordanian male patients and identify the risk factors and associated findings. Methods: This is a retrospective study of 1145 male patients who attended the Pediatric Orthopedic Clinic for a DDH check up. This study was carried out in the Orthopedic Section, Special Surgery Department, Faculty of Medicine, The University of Jordan, Amman, Jordan between March 2011 and October 2014. Data was collected from medical records, and x-ray measurements were evaluated. Results: Of the 1145 male patients, 43 (3.75% with 70 involved hips were diagnosed with late- presenting DDH. Being a first-born baby resulted in 41.9% increased risk for DDH. Cesarian delivery was significantly associated with an increased risk of hip dislocation (p=0.004 while normal delivery was significantly associated with acetabular dysplasia (p=0.004. No predictable risk factors were found in 44.2% patients with DDH. Bilateral cases were more common than unilateral cases: (26 [60.5%] versus 17 [39.5%]. Limited abduction was a constant finding in all dislocated hips (p less than 0.001. Associated conditions, such as club foot and congenital muscular torticollis were not observed. Conclusion: Cesarian section is a significant risk for dislocated hips while normal delivery is significantly associated with acetabular dysplasia. Bilateral DDH is more common than the unilateral. Club foot and torticollis were not observed in this series.

  18. Irreducibility conditions for extended superfields

    International Nuclear Information System (INIS)

    Sokatchev, E.

    1981-05-01

    The irreducible supermultiplets contained in an extended superfield are presented as sets of covariant derivatives of the superfield. Differential irreducibility constraints are easily obtained from this decomposition. (author)

  19. Ultrasound in the diagnosis and treatment of developmental dysplasia of the hip. Evaluation of a selective screening procedure

    DEFF Research Database (Denmark)

    Strandberg, C.; Konradsen, L.A.; Ellitsgaard, N.

    2008-01-01

    INTRODUCTION: With the intention of reducing the treatment frequency of Developmental Dysplasia of the Hip (DDH), two hospitals in Copenhagen implemented a screening and treatment procedure based on selective referral to ultrasonography of the hip (US). This paper describes and evaluates...... 0.03%. No relationship was seen between morphological parameters at the first US and the outcome of hips classified as minor dysplastic or not fully developed (NFD). A statistically significant relationship was seen between the degree of dysplasia and the time until US normalization of the hips (p......= 0.02). There was no relapse of dysplasia after treatment. The median duration of treatment was six, eight and nine weeks for mild, moderate and severe dysplasia respectively. CONCLUSION: The procedure resulted in a low rate of treatment and a small number of late diagnosed cases. Prediction...

  20. Vojta method in the treatment of developmental hip dysplasia – a case report

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    Kiebzak W

    2016-08-01

    Full Text Available Wojciech Kiebzak,1,2 Arkadiusz Żurawski,2 Michał Dwornik3 1Center for Pediatrics, Regional Hospital in Kielce, Kielce, Poland; 2Department of Physiotherapy, Faculty of Medicine and Health Sciences, Jan Kochanowski University, Kielce, Poland; 3Department of Osteopathic Medicine and Physiotherapy, Medical College of Podkowa Lesna, Podkowa Lesna, Poland Background: Developmental dysplasia of the hip joint is one of the most common congenital defects and often results in functional and structural disorders. Such cases particularly demand optimizing therapeutic effects and maximally reducing the duration of therapy. Purpose: The aim of this case report is to present the therapeutic process in a child with developmental hip dysplasia. Case report: This is a case report of a female child with a birth weight of 2,800 g and an Apgar score of 9 points born to a gravida 3 para 3 mother at 37 weeks. The child was delivered by cesarean section, and the pregnancy was complicated by oligohydramnios. Subluxation of the left hip joint was diagnosed by an orthopedist in the third month of life. The treatment followed was the Vojta method (the first phase of reflex turning and reflex crawling. Results: During the 6 weeks of the Vojta treatment, the left half of the femoral head was centralized, and the process of formation of the hip joint acetabulum was influenced effectively enough to change the acetabulum’s Graff type from the baseline D to IIb after 41 days of treatment. Conclusion: The diagnostic work-up of congenital hip joint dysplasia should involve a physiotherapist who will investigate the child’s neuro­muscular coordination, in addition to a neonatologist and a pediatrician. The therapy for a disorder of hip joint development of neuromotor origin should involve the application of global patterns according to Vojta. Children with congenital dysplasia of the hip joint should commence rehabilitation as early as possible. Keywords: global pattern

  1. Risk of developmental dysplasia of the hip in breech presentation: the effect of successful external cephalic version

    NARCIS (Netherlands)

    Lambeek, A. F.; de Hundt, M.; Vlemmix, F.; Akerboom, B. M. C.; Bais, J. M. J.; Papatsonis, D. N. M.; Mol, B. W. J.; Kok, M. [=Marjolein

    2013-01-01

    To evaluate the effect of successful external cephalic version on the incidence of developmental dysplasia of the hip (DDH) requiring treatment in singleton breech presentation at term. Observational cohort study. Three large teaching hospitals in the Netherlands. Women with a singleton breech

  2. The natural history of developmental dysplasia of the hip: sonographic findings in infants of 1-3 months of age

    NARCIS (Netherlands)

    Roovers, E.A.; Boere-Boonekamp, Magdalena M.; Mostert, Adriaan K.; Castelein, René M.; Zielhuis, Gerhard A.; Kerkhoff, Antoon

    2005-01-01

    The natural history of sonographic developmental dysplasia of the hip was determined in a population-based study in which 5170 infants were screened by ultrasound using Graf's method. Of the normal hips at the age of 1 month, 99.6% were still normal at the age of 3 months. Of the immature type

  3. Pilot evaluation of anterior dynamic ultrasound screening for developmental dysplasia of the hip in an Australian Regional Hospital

    DEFF Research Database (Denmark)

    Charlton, S.; Muir, L.; Skinner, T. C.

    2012-01-01

    Introduction: Developmental Dysplasia of the Hip (DDH) is the most common notifiable musculoskeletal birth defect in South Australia (SA). Despite routine screening by physical examination of the hips in the neonatal period and at 6 weeks of age, the risk of late diagnosis is increased in rural a...

  4. Evaluation of a training program for general ultrasound screening for developmental dysplasia of the hip in preventive child health care

    NARCIS (Netherlands)

    Boere-Boonekamp, Magdalena M.; Ramwadhdoebe, S.; Sakkers, R.J.B.; Uiterwaal, Cuno S.P.M.; Beek, Frederik J.A.

    2010-01-01

    Background: A research study in the Netherlands showed that general ultrasound (US) screening was cost-effective in the detection of developmental dysplasia of the hip (DDH). This study was followed by a pilot implementation study. Part of this pilot implementation study is to investigate whether

  5. De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia

    DEFF Research Database (Denmark)

    Tos, T; Alp, M Y; Karacan, C D

    2014-01-01

    In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial...

  6. MRI after operative reduction with femoral osteotomy in developmental dysplasia of the hip

    International Nuclear Information System (INIS)

    Ranawat, Vijai; Rosendahl, Karen; Jones, David

    2009-01-01

    The use of MRI scanning has been described after open reduction of the hip in developmental dysplasia of the hip (DDH) to check hip position, but has not previously been reported after open reduction with femoral osteotomy and the use of metalwork. We report a prospective study to determine whether MRI scanning can be used to confirm satisfactory reduction of the hip following surgery for DDH, even in the presence of metalwork in the proximal femur. MRI scans were performed in 12 consecutive children, and all gave diagnostic information indicating satisfactory reduction. Sedation was not required and the mean scanning time was 3 min 45 s. Satisfactory images, the lack of need for sedation, comparable time and cost to CT scanning and most importantly the lack of exposure of the child to ionizing radiation make MRI a most appealing method for imaging. We therefore recommend it as the investigation of choice in this patient group. (orig.)

  7. Changes of gluteus medius muscle in the adult patients with unilateral developmental dysplasia of the hip

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    Liu RuiYu

    2012-06-01

    Full Text Available Abstract Background The gluteus medius muscle is essential for gait and hip stability. Changes that occur in the gluteus medius muscles in patients with developmental dysplasia of the hip (DDH are not well understood. A better understanding of DDH related changes will have positive repercussions toward hip soft tissue reconstruction. Methods 19 adult patients with unilateral DDH scheduled for total hip arthroplasty were assessed for: cross-sectional area (CSA, radiological density (RD and the length of gluteus medius using computed tomograhpy(CT (scanned before THA. Hip abductor moment arm and gluteus medius activation angle were also measured via hip anteroposterior radiographs. Results Both CSA and RD of gluteus medius muscle were significantly reduced (p  Conclusions The gluteus medius showed substantial loss of CSA, RD as well as decreased length in patients with DDH in the affected hip. These changes should be considered in both hip reconstruction and postoperative rehabilitation training in patients with DDH.

  8. MRI after operative reduction with femoral osteotomy in developmental dysplasia of the hip

    Energy Technology Data Exchange (ETDEWEB)

    Ranawat, Vijai [Great Ormond Street Hospital for Children NHS Trust, Orthopaedic Department, London (United Kingdom); London (United Kingdom); Rosendahl, Karen [Great Ormond Street Hospital for Children NHS Trust, Radiology Department, London (United Kingdom); Jones, David [Great Ormond Street Hospital for Children NHS Trust, Orthopaedic Department, London (United Kingdom)

    2009-02-15

    The use of MRI scanning has been described after open reduction of the hip in developmental dysplasia of the hip (DDH) to check hip position, but has not previously been reported after open reduction with femoral osteotomy and the use of metalwork. We report a prospective study to determine whether MRI scanning can be used to confirm satisfactory reduction of the hip following surgery for DDH, even in the presence of metalwork in the proximal femur. MRI scans were performed in 12 consecutive children, and all gave diagnostic information indicating satisfactory reduction. Sedation was not required and the mean scanning time was 3 min 45 s. Satisfactory images, the lack of need for sedation, comparable time and cost to CT scanning and most importantly the lack of exposure of the child to ionizing radiation make MRI a most appealing method for imaging. We therefore recommend it as the investigation of choice in this patient group. (orig.)

  9. Screening for developmental dysplasia of the hip: current practices in Ireland.

    LENUS (Irish Health Repository)

    O'Grady, M J

    2012-01-31

    OBJECTIVE: To ascertain the current approach to screen for developmental dysplasia of the hip in the Republic of Ireland. METHODS: Two-pronged prospective and retrospective study. (1) Postal questionnaire to consultant paediatricians responsible for the routine neonatal care of infants in the Irish Republic in June 2006. (2) Retrospective database review to identify infants undergoing radiological follow-up and their outcome. RESULTS: All maternity units surveyed responded. Most units (84%) were dependent on radiographs at 4-6 months for imaging hips, only two units primarily used ultrasound (10.5%). We estimate that neonatal hip examination is performed by an experienced examiner in less than 30% of routine newborn examinations. On retrospective analysis, 94% of radiographs performed were normal. CONCLUSIONS: The most effective interventions, selective ultrasound and examination by an experienced clinician are not widely practiced. There is a need for the development of national guidelines based on available resources.

  10. RELIABILITY AND VALIDITY OF CLINICAL AND ULTRASOUND EXAMINATIONS OF DEVELOPMENTAL HIP DYSPLASIA

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    Predrag Grubor

    2011-03-01

    Full Text Available Developmental dysplasia of the hip (DDH is the most common congenital deformation of the musculoskeletal system and its successful treatment is closely related to early diagnosis. The study is aimed at examining the incidence of developmental dysplasia of the hip (DDH and at analysing the validity of clinical examination, which is used for the early detection of DDH in the neonatal period, compared to ultrasound examination.The study involved 400 neonates born in the Banja Luka Region. A new questionnaire was open during the first regular ultrasound and clinical examination of the neonates’ hips and anamnestic and clinical data were recorded in it: the asymmetry of the gluteal, inguinal and femoral folds (Bade sign, the result of abduction testseparately for each hip, the Ortolani sign of luxation and the Palmen sign of reposition, then hip sonography. A Toshiba ultrasound machine with a 7.5 MHz linear probe was used. The method employed was Professor Reinhard Graf’s. Out of the total number of the children with a positive sonographic finding for DDH, 63.16% of them have one of the clinical signs of DDH. The ability of a clinical finding to identify those patients who do not have DDH and have a negative sonographic finding is 79.8%. Out of the total number of the examined children with a positive clinical finding, only 15.58% of them also have a positive sonographic finding for DDH. This research has showed that clinical examination of the hips is of low sensitivity, specificity and reliability, and that not all types of DDH can be detected. Clinical examination must remain an integral part of every infant’s examination, but it constitutes a complementary diagnostic procedure to ultrasound examination. The ultrasound examination of DDH has created new possibilities and has filled the void that existed due to the deficiency of clinical tests, and at the same time it has reduced the number of X-ray examinations of the hips. This research has

  11. Association between open or closed reduction and avascular necrosis in developmental dysplasia of the hip

    Science.gov (United States)

    Wang, Ya-Jie; Yang, Fan; Wu, Qi-Jun; Pan, Shi-Nong; Li, Lian-Yong

    2016-01-01

    Abstract Background: The risk of avascular necrosis of the femoral head (AVN) after treatment of developmental dysplasia of the hip is associated with the method of reduction. Some authors have suggested that open reduction is a risk factor for AVN; however, this is controversial. To our knowledge, a quantitative comparison of the incidence of AVN between closed and open reduction has not been conducted. Methods: Published studies were identified by searching PubMed, EMBASE, and the Cochrane Library up to May, 2015, focusing on the incidence of AVN after closed or open reduction for developmental dysplasia of the hip in children aged <3 years. Patients were age-matched who were treated by either closed or open reduction, but without pelvic or femoral osteotomy. Two authors independently assessed eligibility and abstracted data. Discrepancies were discussed and resolved by consensus. We pooled the odds ratios (ORs) and 95% confidence intervals (95%CIs) from individual studies using a random-effects model and evaluated heterogeneity and publication bias. Results: Nine retrospective studies were included in this analysis. The pooled OR for comparing open reduction with closed reduction for all grades of AVN was 2.26 (95%CI = 1.21–4.22), with moderate heterogeneity (I2 = 44.7%, P = 0.107). The pooled OR for grades II to IV AVN was 2.46 (95%CI = 0.93–6.51), with high heterogeneity (I2 = 69.6%, P = 0.003). A significant association was also found for the further surgery between open and closed reduction, with a pooled OR of 0.30 (95%CI = 0.15–0.60) and moderate heterogeneity (I2 = 46.4%, P = 0.133). No evidence of publication bias or significant heterogeneity between subgroups was detected by meta-regression analyses. Conclusion: Findings from this meta-analysis suggest that open reduction is a risk factor for the development of AVN compared with closed treatment. Future studies are warranted to investigate how open reduction

  12. Cranial acetabular retroversion is common in developmental dysplasia of the hip as assessed by the weight bearing position

    DEFF Research Database (Denmark)

    Troelsen, Anders; Mikkelsen, Lone Rømer; Jacobsen, Steffen

    2010-01-01

    The appearance of acetabular version differs between the supine and weight bearing positions in developmental dysplasia of the hip. Weight bearing radiographic evaluation has been recommended to ensure the best coherence between symptoms, functional appearance, and hip deformities. Previous...... prevalence estimates of acetabular retroversion in dysplastic hips have been established in radiographs recorded with the patient supine and with inclusion only if pelvic tilt met standardized criteria. We assessed the prevalence and the extent of acetabular retroversion in dysplastic hip joints in weight...

  13. Long-term outcome following medial open reduction in developmental dysplasia of the hip: a retrospective cohort study

    OpenAIRE

    Gardner, Richard O. E.; Bradley, Catharine S.; Sharma, Om P.; Feng, Lin; Shin, Michelle EyunJung; Kelley, Simon P.; Wedge, J. H.

    2016-01-01

    Introduction Avascular necrosis (AVN) is a serious complication of treatment for developmental dysplasia of the hip. There is ongoing controversy regarding AVN and its influence on hip development following medial open reduction (MOR). Purpose The aim of our study was to (1) determine the long-term prevalence of AVN following MOR, (2) evaluate hip development after MOR, and (3) identify predictors of AVN and radiographic outcome at skeletal maturity after MOR. Methods A retrospective cohort a...

  14. Experiences of young women living with developmental dysplasia of the hip: insight into their experiences of surgery and recovery.

    Science.gov (United States)

    Gambling, Tina S; Long, Andrew F

    2013-03-01

    To explore the experiences of young women with developmental dysplasia of the hip explicating the impact of peri-acetabular osteotomy surgery and recovery in the short and longer term. Postings of five, selected women on an online active message board aimed at women with developmental dysplasia of the hip were analysed. Interest lay on their postings after they had had peri-acetabular osteotomy surgery. Data analysis was performed through the approach of interpretive phenomenological analysis. The time length of the postings for the cases ranged from 1 year to 6 years, and the number of postings varied substantially, from 48 to 591. Two major concepts were prominent across participants' accounts. The first concept, 'body image', centred on affects on the women's self-esteem and body image. The second, 'the long road to recovery', highlighted 'the emotional and physical battle of learning to walk' and concerns with 'saving my joints'. Developmental dysplasia of the hip potentially provides a critical case for exploration of the process of how a disability can affect confidence, self-esteem and body image. Recovery from this condition requires enormous effort, resilience and commitment from the women.

  15. [Application of computer-aided osteotomy template design in treatment of developmental dysplasia of the hip with steel osteotomy].

    Science.gov (United States)

    Tong, Kuang; Zhang, Yuanzhi; Zhang, Sheng; Yu, Bin

    2013-06-01

    To provide an accurate method for osteotomy in the treatment of developmental dysplasia of the hip with steel osteotomy by three-dimensional reconstruction and Reverse Engineering technique. Between January 2011 and December 2012, 13 children with developmental dysplasia of the hip underwent steel osteotomy. 3D CT scan pelvic images were obtained and transferred via a DICOM network into a computer workstation to construct 3D models of the hip using Materialise Mimics 14.1 software in STL format. These models were imported into Imageware 12.0 software for steel osteotomy simulation until a stable hip was attained in the anatomical position for dislocation or subluxation of the hip in older children. The osteotomy navigational templates were designed according to the anatomical features after a stable hip was reconstructed. These navigational templates were manufactured using a rapid prototyping technique. The reconstruction hips in these children show good matching property and acetabulum cover. The computer-aided design of osteotomy template provides personalized and accurate solutions in the treatment of developmental dysplasia of the hip with steel osteotomy in older children.

  16. [Risk of developmental dysplasia of the hip in patients subjected to the external cephalic version].

    Science.gov (United States)

    Sarmiento Carrera, Nerea; González Colmenero, Eva; Vázquez Castelo, José Luis; Concheiro Guisán, Ana; Couceiro Naveira, Emilio; Fernández Lorenzo, José Ramón

    2018-03-01

    Developmental dysplasia of the hip (DDH) refers to the spectrum of abnormalities of maturation and development of the hip. Breech presentation is associated with DDH. This risk factor can be modified by external cephalic version (ECV). The aim of this study is to evaluate the incidence of DDH in patients who successfully underwent ECV, as well as to evaluate need for these children (breech for a period during gestation) to be included in the DDH screening protocol. A prospective cohort study was conducted in the Hospital Universitario de Vigo from January 1, 2015 to December 31, 2015. It included children born in cephalic presentation after a successful ECV, as well as children born in breech presentation. They all were screened for DDH by ultrasound examination of the hip. Out of a total of 122 newborns included in the study, ECV was attempted on 67 (54.9%), of which 35 (52.2%) were successful. Out of the 14 children diagnosed with DDH, 3 of those born in cephalic presentation after a successful ECV were found to be normal on physical examination. Successful ECV is associated with a lower incidence of DDH as regards breech presentation. However, these patients should be included in the DDH screening protocol for the early detection of this disorder. Copyright © 2017 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Evaluation of surgical outcome in advanced age patients with developmental hip dysplasia.

    Science.gov (United States)

    Çiçekli, Özgür; Doğan, Metin

    2018-04-01

    This study aimed at determining the efficacy of the surgical treatment conducted on children with delayed presentation developmental dysplasia of the hip (DDH). The objective was to provide a good comparison of functional and radiographic outcomes and to determine various surgical treatment options. In this study, we evaluated the results of 38 hips of 27 patients aged 4 years onset which had been operated due to DDH. Radiographic outcomes were evaluated by using acetabular index, CE angle, Tonnis and the Severin classification system. Clinical evaluation was made by using IOWA hip scores. Degenerative changes were evaluated according to Boyer and avascular necrosis according to Kalamchi-MacEwen criteria. The mean age of the patients at the operation time was 10 years 3 months (range: 4 years 3 months-30 years). While the mean acetabular index was 37.97 preoperatively, in the last follow-up it was 19.92. Thirty-six hips (94%) had an excellent and good outcomes, and two hips (%6) had a fair outcome with respect to the Severin criteria. The mean hip score with respect to IOWA was 93.736 (range: 75-98) and the rate of excellent and good outcomes was 98%. For the treatment of patients with DDH of late onset, a one-staged operative procedure is recommended. This method is applied successfully and enables us to achieve good clinical and radiographic results. Copyright © 2018 IJS Publishing Group Ltd. Published by Elsevier Ltd. All rights reserved.

  18. [Effect of abducens orthosis combined with walker on developmental dysplasia of the hip].

    Science.gov (United States)

    Hu, Zhiyong; Xu, Yongqiang; Liang, Jieyu; Li, Kanghua; Liao, Qiande

    2009-07-01

    To evaluate the effect of abducens orthosis combined with walker on developmental dysplasia of the hip (DDH). A total of 126 patients (224 hips) with DDH aged 6-36 months in Xiangya Hospital was randomly divided into 2 groups: an orthosis combined with walker group and an improved hip frog cast fixation group. Seventy patients (130 hips) were treated by the orthosis combined with walker and 56 patients (94 hips) were treated by the improved hip frog cast fixation. We compared the effect and complications of the 2 groups. The fineness rates of the orthosis combined with walker group and the improved hip frog cast fixation group were 89.2% and 90.4%, respectively, with no significant difference (P>0.05). The rate of femoral head osteonecrosis in the orthosis combined with walker group was significantly lower than that in the improved hip frog cast fixation group (1.5% vs. 5.3%,Pwalker has a lower proportion of femoral head osteonecrosis, but a higher proportion of re-dislocation.

  19. Treatment of Developmental Dysplasia of the Hip: Short and Mid-term Outcome

    Directory of Open Access Journals (Sweden)

    Asim AM

    2011-03-01

    Full Text Available OBJECTIVE: To review the presentation and outcome of developmental dysplasia of the hip (DDH cases in the last 6 years. METHODOLOGY: We retrospectively reviewed the presentation as well as short and mid-term outcome of 17 children (18 hips with DDH seen and treated from 2004 to 2010. Treatment was either splinting with Pavlik harness, closed or open reduction depending on age at presentation and the individual needs of each patient. RESULTS: The average age at presentation was 31.1 months, and the male to female ratio was 1:4.6. Six patients (35% presented early (less than 6 months old while 7 patients (41% presented between 6 -24 months. In these 2 groups splinting or closed reduction under anaesthesia was initially utilized for treatment depending on age, and open reduction was used after failure of closed reduction and for those presented late. Average age at the time of closed reduction was 11 months, and 6 years for those underwent open reduction. The average period of follow up for all patients was 29.4 months. The final outcome was successful in 12 hips (66% in 11 patients. Ten of these presented at less than 2 years old, in the other 6 hips in which there was failure, 50% presented after 3 years of age. CONCLUSION: Late presentation of DDH is still common in Malaysia, which necessitates more complex management and more frequent occurrences of unfavourable results.

  20. Developmental dysplasia of hip screening using ortolani and barlow testing on breech delivered neonates.

    Science.gov (United States)

    Sulaiman, Ar; Yusof, Zakaria; Munajat, I; Lee, Naa; Zaki, Nik

    2011-11-01

    We conducted this study to compare the specificity and sensitivity of the Ortolani and Barlow tests performed by dedicated examiners, and to ascertain the incidence of developmental dysplasia of the hip (DDH) in breech babies. A dedicated examiner underwent specific training and testing by a paediatric orthopaedic surgeon. Routine examiners were medical officers who had basic training in medical school and were briefly trained by their superiors. The dedicated examiner examined 170 babies. Thirty babies including 5 babies with positive tests (according to the dedicated examiner) were examined by a blinded routine examiner. RESULTS of Ortolani and Barlow tests on 30 babies were compared with ultrasound examination by blinded radiologist. Five babies had positive Ortolani and Barlow tests. The routine examiner did not detect positive Ortolani and Barlow tests. The incidence of positive Ortolani and Barlow tests among breech babies was 2.8%. Result of Ortolani and Barlow tests by dedicated hip screener were better than results performed by routine examiner. Ortolani and Barlow, Dedicated Examiner, Routine Examiner, Breech, Ultrasound.

  1. The gothic arch: a reliable measurement for developmental dysplasia of the hip.

    Science.gov (United States)

    Herickhoff, Paul K; O'Brien, Megan K; Dolan, Lori A; Morcuende, Jose A; Peterson, Jonathan B; Weinstein, Stuart L

    2013-01-01

    The "Gothic Arch" is a radio-graphic finding on AP pelvis x-rays postulated to be predictive of hip osteoarthritis. The purpose of this study was to determine the reliability of measurement of the Gothic Arch in patients with no known hip pathology and patients with unilateral developmental dysplasia of the hip (DDH). After obtaining IRB approval, nine skeletally mature patients (18 hips) with no known hip pathology were selected to serve as the control group. The AP pelvis x-rays at skeletal maturity of eight patients (16 hips) with unilateral DDH treated with closed reduction and casting comprised the comparison group. A digitizing program was designed to measure the Gothic Arch based on landmarks identified by the user. Two pediatric orthopaedic surgeons and two orthopaedic residents completed the program on two separate occasions. Intra-and interobserver reliability were determined using intraclass cor-relation coefficients (ICC) for continuous variables. Both the unilateral DDH group and the control group demonstrated excellent inter- and intraobserver reliability (ICC >0.70) for base, height, area, and orientation of the Gothic Arch, but poor reliability (ICC Gothic Arch can be reliably measured on AP pelvis x-rays of patients with normal and dysplastic hips. III, Diagnostic study. See the Guidelines for Authors for a complete description of levels of evidence.

  2. Quantitative measurement and analysis for detection and treatment planning of developmental dysplasia of the hip

    Science.gov (United States)

    Liu, Xin; Lu, Hongbing; Chen, Hanyong; Zhao, Li; Shi, Zhengxing; Liang, Zhengrong

    2009-02-01

    Developmental dysplasia of the hip is a congenital hip joint malformation affecting the proximal femurs and acetabulum that are subluxatable, dislocatable, and dislocated. Conventionally, physicians made diagnoses and treatments only based on findings from two-dimensional (2D) images by manually calculating clinic parameters. However, anatomical complexity of the disease and the limitation of current standard procedures make accurate diagnosis quite difficultly. In this study, we developed a system that provides quantitative measurement of 3D clinical indexes based on computed tomography (CT) images. To extract bone structure from surrounding tissues more accurately, the system firstly segments the bone using a knowledge-based fuzzy clustering method, which is formulated by modifying the objective function of the standard fuzzy c-means algorithm with additive adaptation penalty. The second part of the system calculates automatically the clinical indexes, which are extended from 2D to 3D for accurate description of spatial relationship between femurs and acetabulum. To evaluate the system performance, experimental study based on 22 patients with unilateral or bilateral affected hip was performed. The results of 3D acetabulum index (AI) automatically provided by the system were validated by comparison with 2D results measured by surgeons manually. The correlation between the two results was found to be 0.622 (p<0.01).

  3. Shielding during x-ray examination of pediatric female patients with developmental dysplasia of the hip

    International Nuclear Information System (INIS)

    Tsai, Yi-Shan; Liu, Yi-Sheng; Chuang, Ming-Tsung; Wang, Chien-Kuo; Lai, Cheng-Shih; Tsai, Hong-Ming; Lu, Chia-Hsing; Lin, Chii-Jeng

    2014-01-01

    Patients with developmental dysplasia of the hip (DDH) generally undergo multiple x-ray examinations of both hip joints. During these examinations, the gonads are completely exposed to radiation, unless shielded. Although many types and sizes of gonad shields exist, they often do not provide adequate protection because of size and placement issues; additionally, these shields are frequently omitted for female patients. Our aim was to assess gonad protection during x-ray examination that is provided by gonad shields designed for individual female patients with DDH. We retrospectively retrieved data from the Picture Archiving and Communication System database; pelvic plain x-ray films from 766 females, 18 years old or younger, were included in our analysis. Based on x-ray measurements of the anterior superior iliac spine, we developed a system of gonad shield design that depended on the distance between anterior superior iliac spine markers. We custom-made shields and then examined shielding rates and shielding accuracy before and after these new shields became available. Standard (general-purpose) shields were used before our custom design project was implemented. The shielding rate and shielding accuracy were, respectively, 14.5% and 8.4% before the project was implemented and 72.7% and 32.2% after it was implemented. A shield that is more anatomically correct and available in several different sizes may increase the likelihood of gonad protection during pelvic x-ray examinations. (paper)

  4. Shielding during x-ray examination of pediatric female patients with developmental dysplasia of the hip.

    Science.gov (United States)

    Tsai, Yi-Shan; Liu, Yi-Sheng; Chuang, Ming-Tsung; Wang, Chien-Kuo; Lai, Cheng-Shih; Tsai, Hong-Ming; Lin, Chii-Jeng; Lu, Chia-Hsing

    2014-12-01

    Patients with developmental dysplasia of the hip (DDH) generally undergo multiple x-ray examinations of both hip joints. During these examinations, the gonads are completely exposed to radiation, unless shielded. Although many types and sizes of gonad shields exist, they often do not provide adequate protection because of size and placement issues; additionally, these shields are frequently omitted for female patients. Our aim was to assess gonad protection during x-ray examination that is provided by gonad shields designed for individual female patients with DDH.We retrospectively retrieved data from the Picture Archiving and Communication System database; pelvic plain x-ray films from 766 females, 18 years old or younger, were included in our analysis. Based on x-ray measurements of the anterior superior iliac spine, we developed a system of gonad shield design that depended on the distance between anterior superior iliac spine markers. We custom-made shields and then examined shielding rates and shielding accuracy before and after these new shields became available. Standard (general-purpose) shields were used before our custom design project was implemented. The shielding rate and shielding accuracy were, respectively, 14.5% and 8.4% before the project was implemented and 72.7% and 32.2% after it was implemented. A shield that is more anatomically correct and available in several different sizes may increase the likelihood of gonad protection during pelvic x-ray examinations.

  5. Pseudoaneurysm Accompanied by Crowe Type IV Developmental Dysplasia of the Hip: A Case Report

    Directory of Open Access Journals (Sweden)

    Hirotake Yo

    2012-01-01

    Full Text Available We report the case of a 72-year-old woman whose pseudoaneurysm was difficult to diagnose and treat. The patient had a history of congenital dislocated hip and was undergoing anticoagulation therapy with warfarin due to the mitral valve replacement. Her chief complaint was pain and enlargement of the left buttock, and the laboratory tests revealed severe anemia. However, her elderly depression confused her chief complaint, and she was transferred to a psychiatric hospital. Two months after the onset of the symptoms, she was finally diagnosed with a pseudoaneurysm by contrast-enhanced CT and angiography. IDC coils were used for embolization. A plain CT showed hemostasis as well as a reduced hematoma at 2 months after the embolization. The possible contributing factors for the pseudoaneurysm included bleeding due to warfarin combined with an intramuscular hematoma accompanied by Crowe type IV developmental dysplasia of the hip that led to an arterial rupture by impingement between pelvis and femoral head. Since the warfarin treatment could not be halted due to the valve replacement, embolization was chosen for her treatment, and the treatment outcome was favorable.

  6. Knee joint changes in patients with neglected developmental hip dysplasia: a prospective case-control study.

    Science.gov (United States)

    Li, Qiwei; Kadhim, Muayad; Zhang, Lijun; Cheng, Xiangjun; Zhao, Qun; Li, Lianyong

    2014-12-01

    Few reports are available describing knee changes in neglected developmental dysplasia of the hip (DDH). The purpose of this study was to assess the radiographic morphology of knee joints in adults with neglected DDH. Thirty-seven patients (35 females and two males) with neglected DDH were prospectively recruited with an average age of 32.6 years. Twenty-three patients had unilateral and 14 patients had bilateral neglected DDH. Thirty-seven healthy individuals were recruited to form a matched control group. Three groups of knee joints were examined: affected knees (on the same side of the neglected DDH), unaffected knees (contralateral to the neglected DDH in patients with unilateral involvement), and control knees. A series of radiographic parameters of the knee joint were measured in the coronal and sagittal plane, and they were compared between patients and normal controls. In the coronal plane, the affected knees had increased valgus angulation related to increased height of the medial femoral condyle, decreased height of the lateral femoral condyle and decreased lateral distal femoral angle compared to control knees. In the sagittal plane, both distal femoral and proximal tibial joints of the affected knees developed a decrease in posterior angles. Additionally, the unaffected knees also developed radiographic changes compared to control knees. Patients with neglected DDH may develop changes in both knee joints. These changes should be considered during surgery to the hip, femur and knee to prevent potential complications. Level 2. Copyright © 2014 Elsevier B.V. All rights reserved.

  7. MRI findings of the residual subluxation after reduction of developmental dysplasia of the hip

    International Nuclear Information System (INIS)

    Wakabayashi, Kenjirou; Wada, Ikuo; Horiuchi, Osamu; Otsuka, Takanobu

    2007-01-01

    After reduction of developmental dysplasia of the hip (DDH), not a few patients suffer from residual subluxation as well as acetabular dysplasia. Corrective surgery for these residual subluxations is sometimes performed before school-child age. It is occasionally difficult to determine whether the patient is candidate for the corrective surgery in the case with minor morphologic aberration. Therefore, we studied various MRI findings in residual subluxation, and examined if these MRI findings have an effect on natural courses such as growth or concentricity of the hip joint after reduction for DDH. The usefulness of MRI for determining the indication for the corrective surgery was also investigated. We studied 235 patients who underwent primary treatment for DDH during the past decade (between October, 1988 and September, 1998). Of the 235 patients, we studied 23 patients (23 cases; all unilateral cases) who showed residual subluxation and whose MR images were taken when they were around 3 years old, and during a follow-up period was available. Corrective surgery is performed in 11 patients, whereas the remaining 12 patients were conservatively observed the course of the residual subluxation. We investigated the existence of high signal intensity area (hereinafter referred to as HSIA) within the weight-bearing acetabular cartilage on T2-weighted MR coronal section images. Furthermore, conservatively observed patients were divided into two groups according to T2-weighted MR images. Based on simple X-ray images with time in both groups, the acetabular angle and the CE angle were measured. As results, many patients with residual subluxation showed localized HSIA in the weight-bearing acetabular cartilage on T2-weighted MR images. Although all patients who underwent corrective surgery showed HSIA, HSIA disappeared or decreased after the surgery. Of patients who were conservatively observed the course of the residual subluxation, patients showed HSIA on MR image had poor

  8. Utility of immediate postoperative hip MRI in developmental hip dysplasia: closed vs. open reduction.

    Science.gov (United States)

    Jadhav, Siddharth P; More, Snehal R; Shenava, Vinitha; Zhang, Wei; Kan, J Herman

    2018-04-25

    Magnetic resonance imaging (MRI) of the hips is being increasingly used to confirm hip reduction after surgery and spica cast placement for developmental dysplasia of the hip (DDH). To review a single institutional experience with post-spica MRI in children undergoing closed or open hip reduction and describe the utility of MRI in directing the need for re-intervention. Seventy-four patients (52 female, 22 male) who underwent post-spica hip MRI over a 6-year period were retrospectively reviewed. One hundred and seven hips were included. Data reviewed included age at intervention, gender, type of intervention performed, MRI findings, the need for re-intervention and the interval between interventions. Gender was compared between the closed and open reduction groups via the Fisher exact test. Age at the first procedure was compared via the Wilcoxon rank test. Rates of re-intervention after closed and open reduction were calculated and the reasons for re-intervention were reviewed. The mean age at the time of the first intervention was 16.4 months (range: 4 to 63 months). Mean age for the closed reduction group was 10.5 months (range: 4-24 months) and for the open reduction group was 23.7 months (range: 5-63 months), which was significant (P-value open reduction, MRI was useful in deciding re-intervention in only 1 (2%). This patient had prior multiple failed closed and open reductions at an outside institute. Post intervention hip spica MRI is useful in determining the need for re-intervention after closed hip reduction, but its role after open reduction is questionable.

  9. Cryptorchidism as a caudal developmental field defect. A new description of cryptorchidism associated with malformations and dysplasias of the kidneys, the ureters and the spine from T10 to S5

    DEFF Research Database (Denmark)

    Cortes, D; Thorup, J M; Beck, B L

    1998-01-01

    individuals with tritonmelia, the male variant of sirenomelia. Sirenomelia/tritonmelia is an extreme degree of abnormal differentiation of the caudal developmental field, also called caudal dysplasia, the caudal regression syndrome and the caudal regression malformation sequence. Caudal developmental field...

  10. [New classification of Crowe type IV developmental dysplasia of the hip].

    Science.gov (United States)

    Ma, Hai-yang; Zhou, Yong-gang; Zheng, Chong; Cao, Wen-zhe; Wang Sen; Wu, Wen-ming; Piao, Shang; Du, Yin-qiao

    2016-02-01

    To compare differences between Crowe IV developmental dysplasia of the hip (DDH) with secondary acetabulum and Crowe IV DDH without secondary acetabulum,and determine whether it is necessary to divide Crowe IV DDH into two subtypes. From June 2007 to May 2015,145 hips of 112 Crowe N patients who underwent total hip arthroplasty (THA) using S-ROM stem were divided into two groups: secondary acetabulum formaton group (group A) and no secondary acetabulum formaton group (group B). In group A,there were 12 females, 96 males,with an average age of (39.38 ± 11.19) years old. In group B, there were 2 females, 35 males, with an average age of (38.19 ± 10.92) years old. All the patients were evaluated by using Harris Hip Score. Radiographic evaluations were made preoperatively and during follow up. The differences between two groups were compared on dislocation height, canal flare index (CFI), subtrochanteric shortening osteotomy (SSTO) usage, pre- and post-operation Harris scores, complications. The dislocation height for group A was (4.74 ± 1.57) cm, while the dislocation height for group B was (3.12 ± 1.15) cm. Significantly difference was detected between two groups. The CFI for group A was 2.69 ± 0.68, while the CFI for group B was 3.42 ± 0.79, and the significantly difference was detected between two groups. Harris scores were totally improved from 58.18 ± 15.67 preoperatively to 91.20 ± 3.79 post-operatively and the difference was significant. Pre-operative Harris scores was 58.1 ± 15.3 in group A, 58.3 ± 16.9 in group B. Post-operative Harris scores was 91.0 ± 4.1 in group A, 91.0 ± 5.1 in group B. No significant difference was found on Harris scores between A and B preoperatively and post-operatively. Complications of 4 cases peri-prosthesis fracture, 4 cases dislocation and 4 cases nerve injury occur in group A; While only one case dislocation and one case nerve injury occur in group B. No statistical significance was detected. Crowe IV DDH with

  11. Risk factors for avascular necrosis after closed reduction for developmental dysplasia of the hip.

    Science.gov (United States)

    Schur, Mathew D; Lee, Christopher; Arkader, Alexandre; Catalano, Anthony; Choi, Paul D

    2016-06-01

    The purpose of this study was to identify and evaluate risk factors of avascular necrosis (AVN) after closed treatment for developmental dysplasia of the hip (DDH). A retrospective review of children diagnosed with DDH at a tertiary-care children's hospital between 1986 and 2009 was performed. The presence of AVN was assessed according to Salter's classification system. Eighty-two affected hips in 70 children with an average age of 10 months at closed reduction (range 1-31 months) and 5 years (range 2-19 years) of follow-up met the inclusion criteria. Twenty-nine (of 82, 35 %) affected hips developed AVN. The use of pre-reduction traction (p = 0.019) increased the risk of AVN, while preoperative Pavlik harness or brace trial (p = 0.28), presence of ossific nucleus at the time of closed reduction (p = 0.16), and adductor tenotomy (p = 0.37) were not significant factors. Laterality (right vs. left) was also not a significant risk factor (p = 0.75), but patients who underwent closed reduction for bilateral DDH were less likely to develop AVN (p = 0.027). Overall, the degree of abduction did not affect the rate of AVN (p = 0.87). However, in patients treated with closed reduction younger than 6 months of age, the rate of AVN was increased with abduction ≥50° (9/15, 60 %) compared to abduction AVN were more likely to require subsequent surgery (p = 0.034) and more likely to report a fair/poor clinical outcome (p = 0.049). The risk of AVN (35 %) following closed reduction and spica casting for DDH is high. The degree of abduction in spica casts appears to be a risk factor in patients ≤6 months old. The authors recommend that abduction in spica casts should be limited to <50° in children younger than 6 months of age. IV.

  12. Radiological and clinical outcomes of medial approach open reduction by using two intervals in developmental dysplasia of the hip

    Directory of Open Access Journals (Sweden)

    Afsar T. Ozkut

    2018-03-01

    Full Text Available Objective: To evaluate the midterm clinical and radiological outcomes of the medial approach using two intervals for developmental hip dysplasia (DDH. Methods: The study involved 62 hips of 47 patients (41 girls, 6 boys treated with medial approach for DDH from 1999 to 2010. The age of the patients at surgery was 18.7 ± 2.25 months. Follow up of the patients was 11.3 ± 3.07 years. The age of the patients at the last follow up was 12.6 ± 1.74 years. According to the Tönnis classification, 13 hips were grade II, 27 hips were grade III and 22 hips were grade IV. Patients were evaluated according to Omeroglu radiological criteria and modified McKay functional criteria. The presence of avascular necrosis (AVN of the hip was questioned using the KalamchiMacEwen classification. Results: Radiologically, forty eight (77% hips were evaluated as “excellent”, 8 (13% hips as “good” and 5 (8% hips as “fair plus” and 1 (%2 hip as “fair minus”. Two (3% patients had type 1 temporary AVN and one (1% patient had type 4 AVN with coxa magna and overgrowth of the greater trochanter. According to McKay functional criteria, 56 (90% hips had “excellent” and 6 (10% had “good” results. Two (3.2% hips of one patient had to be reoperated with Salter osteotomy and femoral shortening + derotation osteotomy. Conclusion: Medial approach using two separate intervals for tenotomy and capsulotomy does not jeopardize the medial circumflex or the femoral vessels and yields satisfactory midterm results for children 18 months old with dysplasia of the hip. Level of evidence: Level IV, therapeutic study. Keywords: Developmental hip dysplasia, Safety, Avascular necrosis of the femoral head, Medial approach, Surgical approach

  13. The irreducible photon

    Science.gov (United States)

    Andrews, David L.

    2009-08-01

    In recent years it has become evident that the primary concept of the photon has multiple interpretations, with widely differing secondary connotations. Despite the all-pervasive nature of this concept in science, some of the ancillary properties with which the photon is attributed in certain areas of application sit uneasily alongside those invoked in other areas. Certainly the range of applications extends far beyond what was envisaged in the original conception, now entering subjects extending from elementary particle physics and cosmology through to spectroscopy, statistical mechanics and photochemistry. Addressing this diverse context invites the question: What is there, that it is possible to assert as incontrovertibly true about the photon? Which properties are non-controversial, if others are the subject of debate? This paper describes an attempt to answer these questions, establishing as far as possible an irreducible core of what can rightly be asserted about the photon, and setting aside some of what often is, but should never be so asserted. Some of the more bewildering difficulties and differences of interpretation owe their origin to careless descriptions, highlighting a need to guard semantic precision; although simplifications are frequently and naturally expedient for didactic purposes, they carry the risk of becoming indelible. Focusing on such issues, the aim is to identify how much or how little about the photon can be regarded as truly non-controversial.

  14. Gait symmetry and hip strength in women with developmental dysplasia following hip arthroplasty compared to healthy subjects : A cross-sectional study

    NARCIS (Netherlands)

    Leijendekkers, Ruud A.; Marra, Marco A.; Kolk, Sjoerd; Van Bon, Geert; Schreurs, B. Wim; Weerdesteyn, Vivian; Verdonschot, Nico

    2018-01-01

    Introduction: Untreated unilateral developmental dysplasia of the hip (DDH) results in asymmetry of gait and hip strength and may lead to early osteoarthritis, which is commonly treated with a total hip arthroplasty (THA). There is limited knowledge about the obtained symmetry of gait and hip

  15. Radiographic assessment of developmental dysplasia of the hip – A novel radiology reporting process and one year review of referrals

    International Nuclear Information System (INIS)

    Snaith, Beverly; Buckley, Kirsty

    2013-01-01

    Introduction: Developmental dysplasia of the hip (DDH) is the most common musculoskeletal disorder of childhood. Despite the introduction of ultrasound screening radiography remains the most common imaging investigation for children over 4–6 months. The use of picture archive and communications system (PACS) tools to review key measures is standard but annotation of these images supplemented by a radiology report has not been described previously. Method: Referral and demographic data were identified of all children under the age of 2 years attending for a non-trauma pelvic radiograph within a single NHS Trust between January and December 2012. Retrospective review of all radiographs and reports identified the clinical history, co-morbidities and outcome. Results: A total of 313 referrals were received, 230 initial and 83 follow-up examinations. 37 examinations identified a dysplastic acetabulum (n = 37/230; 16.1%) with the majority being girls (n = 23/37; 62.1%). A total of 25 abnormal findings in relation to the femoral head epiphyses were identified (n = 25/230; 10.9%) with 12 also having acetabular dysplasia. Children with a dysplastic acetabulum were significantly more likely to have a subluxation or dislocation (X 2 183.78, 2df, p ≤ 0.001). Children with acetabular dysplasia were significantly more likely to have been born in the autumn or winter months (proportional difference = 11.0%; 95% CI [0.019,0.202]; p = 0.024). Conclusion: This article presents a novel reporting process which is helping to standardise the results in young children undergoing investigation for DDH. The review of referrals confirmed the published evidence that DDH is more prevalent in girls and children born in the autumn and winter months

  16. [Locomotor development in infants with developmental dysplasia of the hip or idiopathic clubfoot undergoing orthopedic treatment. Prospective comparative study].

    Science.gov (United States)

    Masquijo, J J; Campos, L; Torres-Gómez, A; Allende, V

    2013-10-01

    Several disorders of early childhood, such as developmental dysplasia of the hip (DDH) and clubfoot, requires orthopedic treatment that limits active mobility of the lower extremities for a period of time. The aim of our study was to evaluate the impact on locomotor development of the orthopedic treatment in infants less than one year-old. The study included a prospective cohort of consecutive patients diagnosed with developmental dysplasia of the hip (Group A, 24 patients), and clubfoot (Group B, 32 patients) treated from January 2007 to June 2009. A third group (Group C) of 50 healthy children was used as control. The variables evaluated were: months with a brace, age to sit without support, age at the start of crawling, and age at the beginning of walking. The results obtained were analyzed. Comparisons between the three groups were performed using the Kruskal-Wallis test and Mann-Whitney test. We chose a value of P<.05 as level of statistical significance. The analysis of independent samples showed that the mean age at which the patients began to sit were similar: 6.12, 6.42 and 6.19 months, respectively (P=.249). The mean age for crawling was similar, although with a slight trend toward statistical significance: 8.84, 9.38 and 9.17 months, respectively (P=.08). The age at which they started walking was different between the three groups: 12.14, 13.21 and 12.41 months, respectively (P<.001). Orthopedic treatment of DDH and clubfoot in children less than one year-old slightly slows down the course of normal locomotor development. Copyright © 2012 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  17. Long-term outcome following medial open reduction in developmental dysplasia of the hip: a retrospective cohort study.

    Science.gov (United States)

    Gardner, Richard O E; Bradley, Catharine S; Sharma, Om P; Feng, Lin; Shin, Michelle EyunJung; Kelley, Simon P; Wedge, J H

    2016-06-01

    Avascular necrosis (AVN) is a serious complication of treatment for developmental dysplasia of the hip. There is ongoing controversy regarding AVN and its influence on hip development following medial open reduction (MOR). The aim of our study was to (1) determine the long-term prevalence of AVN following MOR, (2) evaluate hip development after MOR, and (3) identify predictors of AVN and radiographic outcome at skeletal maturity after MOR. A retrospective cohort analysis of 60 patients (70 hips) who underwent MOR with a mean follow-up of 10.83 years (5.23-16.74) was conducted. AVN was recorded according to Bucholz and Ogden classification and radiographic outcome based on Severin grading. AVN and hip morphology related to length of follow-up were evaluated. Chi-squared and t-tests were used to identify relationships between AVN and other variables. Logistic regression was used to assess predictors of AVN and Severin outcome. The rate of clinically significant AVN (types 2-4) following MOR was 32.9 % with type 2 accounting for 82.6 % of these cases. While early acetabular development was satisfactory, long-term outcome was unsatisfactory in 26 % of cases with AVN (vs 8.7 % of cases without AVN). A higher rate of AVN was identified when hips were immobilized in ≥60° of abduction postoperatively. A higher rate of poor Severin outcome was identified in hips with AVN. Our findings suggest that there is a high rate of AVN and unsatisfactory long-term outcome following MOR. AVN remains a significant concern following MOR surgery for developmental dysplasia of the hip that may not be apparent until long-term evaluation.

  18. Total hip arthroplasty (S-ROM stem and subtrochanteric osteotomy for Crowe type IV developmental dysplasia of the hip

    Directory of Open Access Journals (Sweden)

    Liangtao Li

    2016-01-01

    Conclusions: In the primary THA for the treatment of irreducible DDH, subtrochanteric oblique osteotomy combined with the freely-rotatable S-ROM stem provided favorable short term outcomes by affording both morphological and functional advantages.

  19. Risk of developmental dysplasia of the hip in breech presentation: the effect of successful external cephalic version.

    Science.gov (United States)

    Lambeek, A F; De Hundt, M; Vlemmix, F; Akerboom, B M C; Bais, J M J; Papatsonis, D N M; Mol, B W J; Kok, M

    2013-04-01

    To evaluate the effect of successful external cephalic version on the incidence of developmental dysplasia of the hip (DDH) requiring treatment in singleton breech presentation at term. Observational cohort study. Three large teaching hospitals in the Netherlands. Women with a singleton breech presentation of 34 weeks of gestation or more, who underwent an external cephalic version attempt. We made a comparison of the incidence of DDH between children born in breech presentation and children born in cephalic presentation after a successful external cephalic version. The incidence of DDH requiring either conservative treatment, with a harness, or surgical treatment. A total of 498 newborns were included in the study, of which 40 (8%) were diagnosed with DDH and 35 required treatment. Multivariate analysis showed that female gender (OR 2.79, 95% CI 1.23-6.35) and successful external cephalic version (OR 0.29, 95% CI 0.09-0.95) were independently associated with DDH. A successful external cephalic version is associated with a lower incidence of DDH, although a high percentage of children born after a successful external cephalic version still appear to have DDH. A larger cohort study is needed to establish the definite nature of this relationship. Until then, we recommend the same screening policy for infants born in cephalic position after a successful external cephalic version as for infants born in breech position. © 2012 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2012 RCOG.

  20. Reliability of ultrasonographic measurements in suspected patients of developmental dysplasia of the hip and correlation with the acetabular index

    Directory of Open Access Journals (Sweden)

    Cem Copuroglu

    2011-01-01

    Full Text Available Background: Ultrasonography is accepted as a useful imaging modality in the early detection of developmental dysplasia of the hip (DDH. Early detection and early treatment of DDH prevents hip dislocation and related physical, social, economic, and psychological problems. The purpose of this study was to evaluate the reliability of ultrasonographic and roentgenographic measurements measured by seven different observers. Materials and Methods: The alpha angles of 66 hips in 33 patients were measured using the Graf method by seven different observers. Acetabular index degrees on plane roentgenograms were measured in order to assess the correlation between the ultrasonographic alpha angle and the radiographic acetabular index, which both show the bony acetabular depth, retrospectively. Results: The interclass correlation coefficient, measuring the interobserver reliability, was high and statistically significant for the ultrasonographic measurements. There was a negative correlation between the alpha angle and the acetabular index. Conclusions: Ultrasonography, when applied properly, is a reliable technique between different observers, in the diagnosis and follow up of DDH. When assessed concomitantly with the roentgenographic measurements, the results are reliable and statistically meaningful.

  1. Depression and anxiety before and after limb length discrepancy correction in patients with unilateral developmental dysplasia of the hip.

    Science.gov (United States)

    Liu, Ruiyu; Li, Yongwei; Fan, Lihong; Mu, Mingchao; Wang, Kunzheng; Song, Wei

    2015-12-01

    Limb length discrepancy (LLD) is common in patients with developmental dysplasia of the hip (DDH) and may influence the psychological status of these patients. The present study aims to investigate depression and anxiety in DDH patients with different extents of LLD and to assess the effect of LLD correction on these two psychological factors. 161 patients with DDH were recruited and divided into two groups based on whether they could perceive LLD preoperatively. The patients who could not perceive LLD were assigned to group N, and those who could perceive LLD were assigned to group P. Depression/anxiety, Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) scores and LLD were assessed one week before, six months and two years after total hip arthroplasty (THA). Depression and anxiety were significantly higher in group P patients compared to group N patients. The patients in group N presented significant improvement in depression and anxiety six months after arthroplasty, while DDH patients in group P did two years after arthroplasty. Correlation analyses revealed their improvement was associated with pain relief and improved hip function in both groups of patients and was also related to changes in the perception of LLD in group P patients. Depression and anxiety levels were higher in DDH patients with perceived LLD. Their improvement was related to pain relief and improved hip function following THA. In DDH patients with perceived LLD, a change in the perception of LLD also played a part in their improvement. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Overhead Bryant's Traction Does Not Improve the Success of Closed Reduction or Limit AVN in Developmental Dysplasia of the Hip.

    Science.gov (United States)

    Sucato, Daniel J; De La Rocha, Adriana; Lau, Karlee; Ramo, Brandon A

    2017-03-01

    Preoperative Bryant's overhead traction before closed reduction (CR) in developmental dysplasia of the hip (DDH) remains controversial and its success in increasing CR rates and reducing avascular necrosis (AVN) rates has not been specifically reported in a large cohort. IRB-approved retrospective study of patients (below 3 y)who were treated with attempted CR for idiopathic DDH from 1980 to 2009. Successful CR was defined as a hip that remained reduced and did not require repeat CR or open reduction. Patients were grouped by age, hip instability [Ortolani positive (reducible) vs. fixed dislocation], and Tonnis classification and rates of successful CR were compared between groups with PAVN between the traction (18%) and no-traction (8%) groups for all patients (P=0.15). In this retrospective series, preoperative Bryant's traction does not improve the rate of a successful CR for patients with DDH and has no protective effect on the development of AVN of the femoral head. These results suggest that Bryant's overhead traction may not be warranted for patients below 3 years of age with DDH. Level III.

  3. Reliability of a New Radiographic Classification for Developmental Dysplasia of the Hip.

    Science.gov (United States)

    Narayanan, Unni; Mulpuri, Kishore; Sankar, Wudbhav N; Clarke, Nicholas M P; Hosalkar, Harish; Price, Charles T

    2015-01-01

    Existing radiographic classification schemes (eg, Tönnis criteria) for DDH quantify the severity of disease based on the position of the ossific nucleus relative to Hilgenreiner's and Perkin's lines. By definition, this method requires the presence of an ossification centre, which can be delayed in appearance and eccentric in location within the femoral head. A new radiographic classification system has been developed by the International Hip Dysplasia Institute (IHDI), which uses the mid-point of the proximal femoral metaphysis as a reference landmark, and can therefore be applied to children of all ages. The purpose of this study was to compare the reliability of this new method with that of Tönnis, as the first step in establishing its validity and clinical utility. Twenty standardized anteroposterior pelvic radiographs of children with untreated DDH were selected purposefully to capture the spectrum of age (range, 3 to 32 mo) at presentation and disease severity. Each of the hips was classified separately by the IHDI and Tönnis methods by 6 experienced pediatric orthopaedists from the United States, Canada, Mexico, United Kingdom, and by 2 orthopaedic senior residents. The inter-rater reliability was tested using the Intra Class Correlation coefficient (ICC) to measure concordance between raters. All 40 hips were classifiable by the IHDI method by all raters. Ten of the 40 hips could not be classified by the Tönnis method because of the absence of the ossific nucleus on one or both sides. The ICC (95% confidence interval) for the IHDI method for all raters was 0.90 (0.83-0.95) and 0.95 (0.91-0.98) for the right and left hips, respectively. The corresponding ICCs for the Tönnis method were 0.63 (0.46-0.80) and 0.60 (0.43-0.78), respectively. There was no significant difference between the ICCs of the 6 experts and 2 trainees. The IHDI method of classification has excellent inter-rater reliability, both among experts and novices, and is more widely

  4. A patient-specific model of the biomechanics of hip reduction for neonatal Developmental Dysplasia of the Hip: Investigation of strategies for low to severe grades of Developmental Dysplasia of the Hip.

    Science.gov (United States)

    Huayamave, Victor; Rose, Christopher; Serra, Sheila; Jones, Brendan; Divo, Eduardo; Moslehy, Faissal; Kassab, Alain J; Price, Charles T

    2015-07-16

    A physics-based computational model of neonatal Developmental Dysplasia of the Hip (DDH) following treatment with the Pavlik Harness (PV) was developed to obtain muscle force contribution in order to elucidate biomechanical factors influencing the reduction of dislocated hips. Clinical observation suggests that reduction occurs in deep sleep involving passive muscle action. Consequently, a set of five (5) adductor muscles were identified as mediators of reduction using the PV. A Fung/Hill-type model was used to characterize muscle response. Four grades (1-4) of dislocation were considered, with one (1) being a low subluxation and four (4) a severe dislocation. A three-dimensional model of the pelvis-femur lower limb of a representative 10 week-old female was generated based on CT-scans with the aid of anthropomorphic scaling of anatomical landmarks. The model was calibrated to achieve equilibrium at 90° flexion and 80° abduction. The hip was computationally dislocated according to the grade under investigation, the femur was restrained to move in an envelope consistent with PV restraints, and the dynamic response under passive muscle action and the effect of gravity was resolved. Model results with an anteversion angle of 50° show successful reduction Grades 1-3, while Grade 4 failed to reduce with the PV. These results are consistent with a previous study based on a simplified anatomically-consistent synthetic model and clinical reports of very low success of the PV for Grade 4. However our model indicated that it is possible to achieve reduction of Grade 4 dislocation by hyperflexion and the resultant external rotation. Copyright © 2015 Elsevier Ltd. All rights reserved.

  5. New treatment method for developmental dysplasia of the hips after walking age. Arthroscopic reduction with limboplasty based on the findings of preoperative imaging

    International Nuclear Information System (INIS)

    Kitano, Toshio; Morita, Mitsuaki; Nakagawa, Keisuke; Wada, Mayuko; Kuroda, Takaaki; Imai, Yuuki; Sakai, Toshiyuki; Eguchi, Yoshitaka

    2010-01-01

    What makes treatment choice for developmental dysplasia of the hips diagnosed after walking age difficult is the poor understanding of prereduction conditions that obstruct the reduction in spatial terms. To evaluate these problems, we employed subtraction three-dimensional imaging to search for the factors involved in intraarticular obstruction. On the basis of the findings of preoperative subtraction three-dimensional imaging from computed tomography, we developed a new method, a minimum invasive arthroscopic reduction with limboplasty, for reduction of developmental dysplasia of the hips after walking age. The purposes of this report were to: describe the technique of the arthroscopic procedure, and evaluate our new method using radiographic parameters. Ten patients with ten hips with developmental dysplasia after walking age treated by arthroscopic reduction with limboplasty were included in this study. The mean age of the patients at reduction was 22.6 months (range, 18.6-29.7 months); mean age at follow up was 7.2 years (range, 3.9-10.9 years); and mean follow up was 5.4 years (range, 1.7-9.0 years). These ten hips were evaluated using radiographic measurements. Moderate or severe avascular necrosis of the femoral head was not observed. Two hips that had a spherical-shaped head with minimal residual height loss or coxa magna were classified as Kalamchi and MacEwen grade 1. Additional surgery had been performed for two hips classified as Severin group 4 during the course of follow up. These two hips were classified as Severin group 1 at final examination. One more hip was classified as Severin group 4 at final examination, and additional surgery was recommended. The remaining seven hips (70%) therefore obtained good evaluations by arthroscopic reduction with limboplasty alone. We developed a new reduction method by using an arthroscopic procedure for the reduction of developmental dysplasia of the hips after walking age when this dysplasia failed to be reduced

  6. Parallel Construction of Irreducible Polynomials

    DEFF Research Database (Denmark)

    Frandsen, Gudmund Skovbjerg

    Let arithmetic pseudo-NC^k denote the problems that can be solved by log space uniform arithmetic circuits over the finite prime field GF(p) of depth O(log^k (n + p)) and size polynomial in (n + p). We show that the problem of constructing an irreducible polynomial of specified degree over GF(p) ...... of polynomials is in arithmetic NC^3. Our algorithm works over any field and compared to other known algorithms it does not assume the ability to take p'th roots when the field has characteristic p....

  7. Muscle Damage After Total Hip Arthroplasty Through the Direct Anterior Approach for Developmental Dysplasia of the Hip.

    Science.gov (United States)

    Kawasaki, Masashi; Hasegawa, Yukiharu; Okura, Toshiaki; Ochiai, Satoshi; Fujibayashi, Takayoshi

    2017-08-01

    Total hip arthroplasty (THA) through the direct anterior approach (DAA) is known to cause less muscle damage than other surgical approaches. However, more complex primary cases, such as developmental dysplasia of the hip (DDH), might often cause muscle damage. The objective of the present study was to clarify the muscle damage observed 1 year after THA through the DAA for DDH using magnetic resonance imaging. We prospectively compared the muscle cross-sectional area (M-CSA) and fatty atrophy (FA) in muscles by magnetic resonance imaging and the Harris hip score before and at 1-year follow-up after THA through the DAA in 3 groups: 37 patients with Crowe group 1 DDH (D1), 13 patients with Crowe group 2 and 3 DDH (D2 + 3), and 12 patients with osteonecrosis as a control. THA through the DAA for D1 displayed significantly decreased M-CSA and significantly increased FA in the gluteus minimus (Gmini), the tensor fasciae latae (TFL), and the obturator internus (OI). Patients with D2 + 3 group did not have decreased M-CSA in the TFL or increased FA in the Gmini. Postoperatively, a significant negative correlation was observed between the M-CSA and FA for the OI in patients with D1 and D2 + 3. THA through the DAA for DDH caused the damage in the Gmini, the TFL, and the OI; severe damage was observed in the OI, showing increased FA with decreased M-CSA in patients with both D1 and D2 + 3. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. [Developmental dysplasia of the hip in children with a psychomotor disorder. A risk factor for a poor outcome?].

    Science.gov (United States)

    Pipa-Muñiz, Iván; de Los Llanos Rodríguez-Rodríguez, María; Felgueroso-Juliana, M Blanca; Riera-Campillo, Manuela; González-Herranz, Pedro

    2016-09-01

    Orthopaedic treatment of developmental dysplasia of the hip (DDH) has a high success rate in cases that are diagnosed early. However, the outcomes of these patients are not really known when they are subsequently diagnosed with some type of cerebral impairment. A retrospective observational study was conducted on cases of DDH with a poor outcome after orthopaedic treatment, being unknown if they had any type of psychomotor disorder. The patients were clinically and radiologically assessed, and afterwards received neurological valuation by the Child Neurology Unit. Of the 325 cases of DDH diagnosed in 293 patients, 10 patients (3%) with 16 hips with DDH were diagnosed of any cerebral impairment. All them were initially treated orthopedically. Clinical and radiologically evolution was succesful only in 4 cases (25%) being necessary any surgical procedure in the remaining 12 cases. After surgical treatment we got an improvement in the Acetabular Index (p=0.005) and Reimers Extrusion Index (p=0.042). Neck-shaft angle and Wiberg CE angle also improved but this difference was not statically significant. Cerebral impairment was diagnosed at 2,5 years of age and the begining of walking was delayed at 2.4 years of age. Cerebral impairment can lead to an unfavourable outcome in the treatment of DDH, with the relative risk of a poor outcome being 7.2 times higher in these patients. An unfavourable outcome with conventional treatment of DDH must make us suspect the presence of some type of neurological disorder, particularly if there is a delay in walking. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. SU(N) Irreducible Schwinger Bosons

    OpenAIRE

    Mathur, Manu; Raychowdhury, Indrakshi; Anishetty, Ramesh

    2010-01-01

    We construct SU(N) irreducible Schwinger bosons satisfying certain U(N-1) constraints which implement the symmetries of SU(N) Young tableaues. As a result all SU(N) irreducible representations are simple monomials of $(N-1)$ types of SU(N) irreducible Schwinger bosons. Further, we show that these representations are free of multiplicity problems. Thus all SU(N) representations are made as simple as SU(2).

  10. Irreducible Specht modules are signed Young modules

    OpenAIRE

    Hemmer, David J.

    2005-01-01

    Recently Donkin defined signed Young modules as a simultaneous generalization of Young and twisted Young modules for the symmetric group. We show that in odd characteristic, if a Specht module $S^\\lambda$ is irreducible, then $S^\\lambda$ is a signed Young module. Thus the set of irreducible Specht modules coincides with the set of irreducible signed Young modules. This provides evidence for our conjecture that the signed Young modules are precisely the class of indecomposable self-dual module...

  11. [Long-term clinical and radiological outcomes in a serie of 26 cases of symptomatic adult developmental dysplasia of the hip managed with bernese periacetabular osteotomy].

    Science.gov (United States)

    Alcobía Díaz, B; Luque Pérez, R; García Bullón, I; Moro Rodríguez, L E; López-Durán Stern, L

    2015-01-01

    Developmental hip dysplasia is a frequent cause of coxofemoral pain in young adults. Bernese periacetabular osteotomy emerges as a possible option for the management of pain relief and functional limitation, in order to delay the need for arthroplasty in these patients. A descriptive-retrospective study was conducted on 26 selected patients with symptomatic developmental hip dysplasia treated with bernese periacetabular osteotomy between 1996 and 2009 (94% women). Mean age at time of surgery was 39.8 y (15-49 y), with a mean follow-up of 10 years. Osteoarthritis (OA Tönnis scale), acetabular index and Wiberg angle were evaluated by radiology and functionality was valued by using the de Merle-D'Aubigné-Postel scale. The mean hospitalization time was 10 days. At 10 years, the mean radiography value of acetabular index was 9.03° and 38.3° for Wiberg angle (17° and 27° correction, respectively, above the mean pre-operative values). Joint lock was referred to by 43% of patients, and 53% to non-evidence based limb failure. Mean functional value was 14.30 (Good). At 5 years of follow-up, 20% advanced at least by one grade in OA Tönnis scale compared to their pre-operative status, increasing to 55% at 10 years. At 10 years after surgery, 83% patients did not need arthroplasty and 85% showed high satisfaction level. Bernese periacetabular osteotomy is a useful alternative in young adults with symptomatic developmental hip dysplasia that can improve pain relief, femoral head coverage, and slow down coxofemoral osteoarthrosis progression in order to delay arthroplasty. Copyright © 2014 SECOT. Published by Elsevier Espana. All rights reserved.

  12. Ectodermal dysplasias

    Science.gov (United States)

    Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome; Anondontia; Incontinentia pigmenti ... These resources can provide more information on ectodermal dysplasias: Ectodermal Dysplasia Society -- www.ectodermaldysplasia.org National Foundation for ...

  13. A murine model for developmental dysplasia of the hip: ablation of CX3CR1 affects acetabular morphology and gait

    Directory of Open Access Journals (Sweden)

    George Feldman

    2017-11-01

    Full Text Available Abstract Background Developmental dysplasia of the hip (DDH is a debilitating condition whose distinguishing signs include incomplete formation of the acetabulum leading to dislocation of the femur, accelerated wear of the articular cartilage and joint laxity resulting in osteoarthritis. It is a complex disorder having environmental and genetic causes. Existing techniques fail to detect milder forms of DDH in newborns leading to hip osteoarthritis in young adults. A sensitive, specific and cost effective test would allow identification of newborns that could be non-invasively corrected by the use of a Pavlik harness. Previously, we identified a 2.5 MB candidate region on human chromosome 3 by using linkage analysis of a 4 generation, 72 member family. Whole exome sequencing of the DNA of 4 severely affected members revealed a single nucleotide polymorphism variant, rs3732378 co-inherited by all 11 affected family members. This variant causes a threonine to methionine amino acid change in the coding sequence of the CX3CR1 chemokine receptor and is predicted to be harmful to the function of the protein To gain further insight into the function of this mutation we examined the effect of CX3CR1 ablation on the architecture of the mouse acetabulum and on the murine gait. Methods The hips of 5 and 8 weeks old wild type and CX3CR1 KO mice were analyzed using micro-CT to measure acetabular diameter and ten additional dimensional parameters. Eight week old mice were gait tested using an inclined treadmill with and without load and then underwent micro-CT analysis. Results (1 KO mice showed larger a 5–17% larger diameter left acetabula than WT mice at both ages. (2 At 8 weeks the normalized area of space (i.e. size discrepancy between the femur head and acetabulum is significantly larger [38% (p = 0.001–21% (p = 0.037] in the KO mice. (3 At 8 weeks gait analysis of these same mice shows several metrics that are consistent with impairment in

  14. Three-dimensional MRI Analysis of Femoral Head Remodeling After Reduction in Patients With Developmental Dysplasia of the Hip.

    Science.gov (United States)

    Tsukagoshi, Yuta; Kamada, Hiroshi; Kamegaya, Makoto; Takeuchi, Ryoko; Nakagawa, Shogo; Tomaru, Yohei; Tanaka, Kenta; Onishi, Mio; Nishino, Tomofumi; Yamazaki, Masashi

    2018-05-02

    Previous reports on patients with developmental dysplasia of the hip (DDH) showed that the prereduced femoral head was notably smaller and more nonspherical than the intact head, with growth failure observed at the proximal posteromedial area. We evaluated the shape of the femoral head cartilage in patients with DDH before and after reduction, with size and sphericity assessed using 3-dimensional (3D) magnetic resonance imaging (MRI). We studied 10 patients with unilateral DDH (all female) who underwent closed reduction. Patients with avascular necrosis of the femoral head on the plain radiograph 1 year after reduction were excluded. 3D MRI was performed before reduction and after reduction, at 2 years of age. 3D-image analysis software was used to reconstruct the multiplanes. After setting the axial, coronal, and sagittal planes in the software (based on the femoral shaft and neck axes), the smallest sphere that included the femoral head cartilage was drawn, the diameter was measured, and the center of the sphere was defined as the femoral head center. We measured the distance between the center and cartilage surface every 30 degrees on the 3 reconstructed planes. Sphericity of the femoral head was calculated using a ratio (the distance divided by each radius) and compared between prereduction and postreduction. The mean patient age was 7±3 and 26±3 months at the first and second MRI, respectively. The mean duration between the reduction and second MRI was 18±3 months. The femoral head diameter was 26.7±1.5 and 26.0±1.6 mm on the diseased and intact sides, respectively (P=0.069). The ratios of the posteromedial area on the axial plane and the proximoposterior area on the sagittal plane after reduction were significantly larger than before reduction (P<0.01). We demonstrated that the size of the reduced femoral head was nearly equal to that of the intact femoral head and that the growth failure area of the head before reduction, in the proximal posteromedial

  15. Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): ''SMD-Corner Fracture Type'' (DCV/SMD-CF) demonstrated in most reported cases

    International Nuclear Information System (INIS)

    Currarino, G.; Birch, J.G.; Herring, J.A.

    2000-01-01

    Background. This paper reports three children with short stature: developmental coxa vara unilateral in the first case and bilateral in the other two; somewhat squared and ''ovoid'' vertebral bodies in the first patient, and normal to slightly tall vertebral bodies in the third; metaphyseal changes in some long tubular bones including bone fragments similar to the corner fractures seen in child abuse in all three patients. Materials and methods. The first and second patients were sisters; their mother, also quite short, had surgical procedures in early life for bilateral ''coxa vara''; their brother, also of short stature, had bilateral coxa valga with otherwise normal femoral heads and necks, and mild metaphyseal changes associated with two minute ''corner fractures'' in the proximal metaphysis of the left tibia. Results. A review of reported cases of developmental coxa vara associated with spondylometaphyseal dysplasia revealed that simulated corner fractures were present in most instances. (orig.)

  16. Morphological characteristics of the bony birth canal in patients with developmental dysplasia of the hip (DDH). Investigation by three-dimensional CT

    Energy Technology Data Exchange (ETDEWEB)

    Kojima, Seiichi; Kobayashi, Seneki; Saito, Naoto; Nawata, Masashi; Horiuchi, Hiroshi; Takaoka, Kunio [Shinshu Univ., Matsumoto, Nagano (Japan). School of Medicine

    2001-07-01

    We investigated the three-dimensional morphological characteristics of the pelvis in adult female patients with developmental dysplasia of the hip (DDH), using computerized tomography (CT) images. Forty-two subjects with normal hips and 40 DDH patients were recruited for the study. In the DDH group, the average transverse diameter of the pelvic inlet was significantly less and the average transverse diameter of the pelvic outlet was significantly greater than the measurements in the normal group. Further, the bony birth canal in DDH patients exhibited a higher incidence of anthropoid-type geometry, as defined by a longer sagittal diameter relative to the transverse diameter of the pelvic inlet. These findings indicate a characteristic pelvic geometry and suggest different development of the pelvis in the transverse direction in DDH patients. In addition, the obstetric conjugate length/transverse diameter of the pelvic inlet ratio was correlated to the degree of severity of acetabular dysplasia. This finding suggests that DDH is a manifestation of a developmental characteristic of the pelvis. (author)

  17. Percutaneous medial hemi-epiphysiodesis using a transphyseal screw for caput valgum associated with developmental dysplasia of the hip.

    Science.gov (United States)

    Shin, Chang Ho; Hong, Wan Kee; Lee, Doo Jae; Yoo, Won Joon; Choi, In Ho; Cho, Tae-Joon

    2017-11-14

    The purpose of this study was to evaluate the radiologic outcome of percutaneous medial hemi-epiphysiodesis using a transphyseal screw for the management of caput valgum associated with developmental dysplasia of the hip (DDH). Eighteen hips (18 patients) having caput valgum treated with screw hemi-epiphysiodesis were followed for more than 2 years, and were included in this study. The mean age at the time of the index operation was 8.3 years (range, 4.3 to 10.7 years) and age at the latest follow-up was 12.2 years (range, 9.4 to 16.4 years). The screw in 5 hips was changed into a longer one at postoperative 21.8 months (range, 14 to 29 months) because the proximal femur outgrew the screw. The screws in 11 hips were removed at the mean age of 10.9 years (range, 8.0 to 14.5 years). We retrospectively analyzed the change in various radiologic parameters over time. The mean Hilgenreiner-epiphyseal angle (HEA) of the operated side was 5.1 ± 11.3° preoperatively, and increased to 20.6 ± 11.3° at the latest follow-up (p = 0.001). The mean difference of the HEA between the operated and contralateral sides was 16.9 ± 15.1° preoperatively, which decreased to 2.4 ± 12.4° at the latest follow-up (p = 0.008). The mean articulo-trochanteric distance of the operated side, which was 3.2 ± 5.5 mm longer than that of the contralateral side preoperatively, became 5.6 ± 9.1 mm shorter at the latest follow-up (p = 0.001). The ratio of femoral neck length of the operated side to that of the contralateral side decreased over the follow-up period. Acetabular shape as measured by the Sharp angle and acetabular roof angle and femoral head coverage as measured by lateral center-edge angle did not change significantly by the index operation. The ratio of medial joint space width of the operated side to that of the contralateral side did not change significantly. Screw medial hemi-epiphysiodesis can effectively correct caput valgum

  18. Two-Stage Progressive Femoral Lowering Followed by Cementless Total Hip Arthroplasty for Treating Crowe IV-Hartofilakidis Type 3 Developmental Dysplasia of the Hip.

    Science.gov (United States)

    Binazzi, Roberto

    2015-05-01

    High developmental dysplasia of the hip is commonly treated with total hip arthroplasty and shortening osteotomy. We present a two stage technique, consisting of progressive femoral lowering followed by total hip arthroplasty. The clinico-radiographic results of eleven patients (twelve hips) who were operated on with the two-stage technique were evaluated at a mean follow-up of 11 ± 5 years. At the final follow-up, ten patients (eleven hips) had a mean Harris hip score of 85 ± 5 points with no implant loosening. One patient (one hip) was revised at 5 years due to infection. No neurovascular complications were observed in any patients. With this technique, we could place the cup in the anatomical position and obtain complete limb symmetry with excellent clinical results at long-term. Copyright © 2014 Elsevier Inc. All rights reserved.

  19. Irreducible Traumatic Posterior Shoulder Dislocation

    Directory of Open Access Journals (Sweden)

    Blake Collier

    2017-01-01

    coracoid, marked limitation of abduction, and complete absence of external rotation with a fixed internal rotation deformity.2 Lesions commonly associated with traumatic posterior subluxation/dislocation are the reverse Hill-Sachs,3 a posterior labral detachment, glenohumeral ligament lesions,4 rotator cuff tears or posterior bony fractures.1 In order to make an accurate diagnosis it is important to obtain adequate x-ray imaging, including a “Y” view.2 Anteroposterior x-rays may show widening of the glenohumeral joint resembling a “light bulb” shape of the humeral head. However, definitive diagnosis is made by the “Y” view which shows the humeral head displaced posteriorly and no longer covering the glenoid fossa6. Irreducible acute posterior dislocation of the shoulder is extremely rare5 and only one other case has been reported in the literature.7

  20. Posterosuperior Placement of a Standard-Sized Cup at the True Acetabulum in Acetabular Reconstruction of Developmental Dysplasia of the Hip With High Dislocation.

    Science.gov (United States)

    Xu, Jiawei; Xu, Chen; Mao, Yuanqing; Zhang, Jincheng; Li, Huiwu; Zhu, Zhenan

    2016-06-01

    We sought to evaluate posterosuperior placement of the acetabular component at the true acetabulum during acetabular reconstruction in patients with Crowe type-IV developmental dysplasia of the hip. Using pelvic computed tomography and image processing, we developed a two-dimensional mapping technique to demonstrate the distribution of preoperative three-dimensional cup coverage at the true acetabulum, determined the postoperative location of the acetabular cup, and calculated postoperative three-dimensional coverage for 16 Crowe type-IV dysplastic hips in 14 patients with a mean age of 52 years (33-78 years) who underwent total hip arthroplasty. Mean follow-up was 6.3 years (5.5-7.3 years). On preoperative mapping, the maximum three-dimensional coverage using a 44-mm cup was 87.31% (77.36%-98.14%). Mapping enabled the successful replacement of 16 hips using a mean cup size of 44.13 mm (42-46 mm) with posterosuperior placement of the cup. Early weight-bearing and no prosthesis revision or loosening during follow-up were achieved in all patients. The postoperative two-dimensional coverage on anteroposterior radiographs and three-dimensional coverage were 96.15% (89.49%-100%) and 83.42% (71.81%-98.50%), respectively. This technique may improve long-term implant survival in patients with Crowe-IV developmental dysplasia of the hip undergoing total hip arthroplasty by allowing the use of durable bearings, increasing host bone coverage, ensuring initial stability, and restoring the normal hip center. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Does the optimal position of the acetabular fragment should be within the radiological normal range for all developmental dysplasia of the hip? A patient-specific finite element analysis.

    Science.gov (United States)

    Wang, Xuyi; Peng, Jianping; Li, De; Zhang, Linlin; Wang, Hui; Jiang, Leisheng; Chen, Xiaodong

    2016-10-04

    The success of Bernese periacetabular osteotomy depends significantly on how extent the acetabular fragment can be corrected to its optimal position. This study was undertaken to investigate whether correcting the acetabular fragment into the so-called radiological "normal" range is the best choice for all developmental dysplasia of the hip with different severities of dysplasia from the biomechanical view? If not, is there any correlation between the biomechanically optimal position of the acetabular fragment and the severity of dysplasia? Four finite element models with different severities of dysplasia were developed. The virtual periacetabular osteotomy was performed with the acetabular fragment rotated anterolaterally to incremental center-edge angles; then, the contact area and pressure and von Mises stress in the cartilage were calculated at different correction angles. The optimal position of the acetabular fragment for patients 1, 2, and 3 was when the acetabular fragment rotated 17° laterally (with the lateral center-edge angle of 36° and anterior center-edge angle of 58°; both were slightly larger than the "normal" range), 25° laterally following further 5° anterior rotation (with the lateral center-edge angle of 31° and anterior center-edge angle of 51°; both were within the "normal" range), and 30° laterally following further 10° anterior rotation (with the lateral center-edge angle of 25° and anterior center-edge angle of 40°; both were less than the "normal" range), respectively. The optimal corrective position of the acetabular fragment is severity dependent rather than within the radiological "normal" range for developmental dysplasia of the hip. We prudently proposed that the optimal correction center-edge angle of mild, moderate, and severe developmental dysplasia of the hip is slightly larger than the "normal" range, within the "normal" range, and less than the lower limit of the "normal" range, respectively.

  2. Developmental dysplasia of the hip: A computational biomechanical model of the path of least energy for closed reduction.

    Science.gov (United States)

    Zwawi, Mohammed A; Moslehy, Faissal A; Rose, Christopher; Huayamave, Victor; Kassab, Alain J; Divo, Eduardo; Jones, Brendan J; Price, Charles T

    2017-08-01

    This study utilized a computational biomechanical model and applied the least energy path principle to investigate two pathways for closed reduction of high grade infantile hip dislocation. The principle of least energy when applied to moving the femoral head from an initial to a final position considers all possible paths that connect them and identifies the path of least resistance. Clinical reports of severe hip dysplasia have concluded that reduction of the femoral head into the acetabulum may occur by a direct pathway over the posterior rim of the acetabulum when using the Pavlik harness, or by an indirect pathway with reduction through the acetabular notch when using the modified Hoffman-Daimler method. This computational study also compared the energy requirements for both pathways. The anatomical and muscular aspects of the model were derived using a combination of MRI and OpenSim data. Results of this study indicate that the path of least energy closely approximates the indirect pathway of the modified Hoffman-Daimler method. The direct pathway over the posterior rim of the acetabulum required more energy for reduction. This biomechanical analysis confirms the clinical observations of the two pathways for closed reduction of severe hip dysplasia. The path of least energy closely approximated the modified Hoffman-Daimler method. Further study of the modified Hoffman-Daimler method for reduction of severe hip dysplasia may be warranted based on this computational biomechanical analysis. © 2016 The Authors. Journal of Orthopaedic Research Published by Wiley Periodicals, Inc. on behalf of Orthopaedic Research Society. J Orthop Res 35:1799-1805, 2017. © 2016 The Authors. Journal of Orthopaedic Research Published by Wiley Periodicals, Inc. on behalf of Orthopaedic Research Society.

  3. Irreducible geometric subgroups of classical algebraic groups

    CERN Document Server

    Burness, Timothy C; Testerman, Donna M

    2016-01-01

    Let G be a simple classical algebraic group over an algebraically closed field K of characteristic p \\ge 0 with natural module W. Let H be a closed subgroup of G and let V be a non-trivial irreducible tensor-indecomposable p-restricted rational KG-module such that the restriction of V to H is irreducible. In this paper the authors classify the triples (G,H,V) of this form, where H is a disconnected maximal positive-dimensional closed subgroup of G preserving a natural geometric structure on W.

  4. The irreducible needs of children for development: a frame of reference to health care

    Directory of Open Access Journals (Sweden)

    Maria De La Ó Ramallo Veríssimo

    2018-03-01

    Full Text Available ABSTRACT A comprehensive health care to children implies in caring for their development, by perceiving the needs based on a suitable reference to children’s specificities. This theoretical study aimed to analyze the “irreducible needs of children” frame of reference, based on a child development theory. We performed a comparative analysis between the contents of children’s irreducible needs and the components of the Bioecological Theory of Human Development. An extensive correspondence was verified among the components of the Bioecological Theory and the following essential needs: ongoing nurturing relationships; experiences tailored to individual differences; developmentally appropriate experiences; limit setting, structure and expectations; stable, supportive communities and cultural continuity. The need for physical protection, safety, and regulation is not explicit in the elements of the theory, although it is also verified in their definitions. We concluded that the irreducible needs’ reference can support nurses in health care and in child development promotion.

  5. Irreducible multivariate polynomials obtained from polynomials in ...

    Indian Academy of Sciences (India)

    Hall, 1409 W. Green Street, Urbana, IL 61801, USA. E-mail: Nicolae. ... Theorem A. If we write an irreducible polynomial f ∈ K[X] as a sum of polynomials a0,..., an ..... This shows us that deg ai = (n − i) deg f2 for each i = 0,..., n, so min k>0.

  6. Some extensions and applications of Eisenstein Irreducibility ...

    Indian Academy of Sciences (India)

    Page 1. Some extensions and applications of Eisenstein Irreducibility. Criterion. Sudesh Kaur Khanduja ..... Beginning from the individual theorems, I grew ac- customed to delve more deeply into their relationships and to grasp whole theories as a single entity. That is how I conceived the idea of mathematical beauty .

  7. Comparison between Graf method and pubo-femoral distance in neutral and flexion positions to diagnose developmental dysplasia of the hip

    International Nuclear Information System (INIS)

    Teixeira, Sara R.; Dalto, Vitor F.; Maranho, Daniel A.; Zoghbi-Neto, Orlando S.; Volpon, José B.; Nogueira-Barbosa, Marcello H.

    2015-01-01

    Highlights: • The article adds information about the pubo-femoral distance (PFD) used as a simple tool to detect dysplastic hips in neonates. This articles shows that the PFD is comparable with the “gold standard” Graf method for the diagnosis of developmental dysplasia of the hip and it can be used as a screening tool for its diagnosis, regardless the radiologists’ experience, with high accuracy. - Abstract: Purposes: To evaluate whether the pubo-femoral distance (PFD) can be used as an accurate screening test to diagnose developmental dysplasia of the hip (DDH) in an at-risk population compared with the Graf method. Second, to determine whether PFD assessment is feasible and reproducible regardless of the observer's experience. Materials and methods: IRB approved this retrospective single-institution study. Written informed consent was waived. Between January 2010 and March 2012, 116 neonates at risk for DDH were included. Infants’ hips were distributed into two groups according to recommendation for treatment: non-dysplastic (ND; Graf I/IIA; 211 hips; 69 females/37 males) and dysplastic hip (DH; Graf IIB/IIC/III/D/IV; 21 hips; 8 females/3 males). One resident and one experienced radiologist reviewed ultrasonography images performed in the fourth week. To compare the groups, Student's t and Mann–Whitney tests for normally and non-normally distributed covariates were performed. Accuracy of PFD to diagnose DDH was calculated. Intraclass correlation coefficient (ICC) was calculated to assess inter-observer agreement. Results: Mean PFDs of ND group were 3.09 mm at neutral position and 3.64 mm with the hip flexed. Mean PFDs of DH group were 6.29 mm and 7.59 mm, respectively. Sensitivity, specificity, and accuracy of PFD were 94.4%, 93.4%, and 97.2% (cut-off = 4.6 mm) at neutral position and 94.4%, 89.0%, and 95.5% (cut-off = 4.9 mm) with hip flexed. ICCs were 0.852 and 0.864, respectively. Conclusions: PFD is comparable with Graf method, enabling

  8. Comparison between Graf method and pubo-femoral distance in neutral and flexion positions to diagnose developmental dysplasia of the hip

    Energy Technology Data Exchange (ETDEWEB)

    Teixeira, Sara R., E-mail: steixeira@hcrp.usp.br [Division of Radiology, Department of Internal Medicine, Ribeirao Preto Medical School, University of Sao Paulo, Av. Bandeirantes, 3900 Ribeirao Preto, Sao Paulo 14049-090 (Brazil); Dalto, Vitor F., E-mail: fdalto@gmail.com [Division of Radiology, Department of Internal Medicine, Ribeirao Preto Medical School, University of Sao Paulo, Av. Bandeirantes, 3900 Ribeirao Preto, Sao Paulo 14049-090 (Brazil); Maranho, Daniel A., E-mail: dacmaranho@gmail.com [Division of Pediatric Orthopaedics, Department of Biomechanics, Medicine, and Rehabilitation of the Locomotor System, Ribeirao Preto Medical School, University of Sao Paulo, Av. Bandeirantes, 3900 Ribeirao Preto, Sao Paulo 14049-090 (Brazil); Zoghbi-Neto, Orlando S., E-mail: zoghbi47@gmail.com [Division of Radiology, Department of Internal Medicine, Ribeirao Preto Medical School, University of Sao Paulo, Av. Bandeirantes, 3900 Ribeirao Preto, Sao Paulo 14049-090 (Brazil); Volpon, José B., E-mail: jbvolpon@fmrp.usp.br [Division of Pediatric Orthopaedics, Department of Biomechanics, Medicine, and Rehabilitation of the Locomotor System, Ribeirao Preto Medical School, University of Sao Paulo, Av. Bandeirantes, 3900 Ribeirao Preto, Sao Paulo 14049-090 (Brazil); Nogueira-Barbosa, Marcello H., E-mail: marcello@fmrp.usp.br [Division of Radiology, Department of Internal Medicine, Ribeirao Preto Medical School, University of Sao Paulo, Av. Bandeirantes, 3900 Ribeirao Preto, Sao Paulo 14049-090 (Brazil)

    2015-02-15

    Highlights: • The article adds information about the pubo-femoral distance (PFD) used as a simple tool to detect dysplastic hips in neonates. This articles shows that the PFD is comparable with the “gold standard” Graf method for the diagnosis of developmental dysplasia of the hip and it can be used as a screening tool for its diagnosis, regardless the radiologists’ experience, with high accuracy. - Abstract: Purposes: To evaluate whether the pubo-femoral distance (PFD) can be used as an accurate screening test to diagnose developmental dysplasia of the hip (DDH) in an at-risk population compared with the Graf method. Second, to determine whether PFD assessment is feasible and reproducible regardless of the observer's experience. Materials and methods: IRB approved this retrospective single-institution study. Written informed consent was waived. Between January 2010 and March 2012, 116 neonates at risk for DDH were included. Infants’ hips were distributed into two groups according to recommendation for treatment: non-dysplastic (ND; Graf I/IIA; 211 hips; 69 females/37 males) and dysplastic hip (DH; Graf IIB/IIC/III/D/IV; 21 hips; 8 females/3 males). One resident and one experienced radiologist reviewed ultrasonography images performed in the fourth week. To compare the groups, Student's t and Mann–Whitney tests for normally and non-normally distributed covariates were performed. Accuracy of PFD to diagnose DDH was calculated. Intraclass correlation coefficient (ICC) was calculated to assess inter-observer agreement. Results: Mean PFDs of ND group were 3.09 mm at neutral position and 3.64 mm with the hip flexed. Mean PFDs of DH group were 6.29 mm and 7.59 mm, respectively. Sensitivity, specificity, and accuracy of PFD were 94.4%, 93.4%, and 97.2% (cut-off = 4.6 mm) at neutral position and 94.4%, 89.0%, and 95.5% (cut-off = 4.9 mm) with hip flexed. ICCs were 0.852 and 0.864, respectively. Conclusions: PFD is comparable with Graf method, enabling

  9. The Slice Algorithm For Irreducible Decomposition of Monomial Ideals

    DEFF Research Database (Denmark)

    Roune, Bjarke Hammersholt

    2009-01-01

    Irreducible decomposition of monomial ideals has an increasing number of applications from biology to pure math. This paper presents the Slice Algorithm for computing irreducible decompositions, Alexander duals and socles of monomial ideals. The paper includes experiments showing good performance...

  10. The early diagnosis of developmental dysplasia of the hip using ultrasonography. The importance of following up cases with physiological immaturity

    International Nuclear Information System (INIS)

    Esparza, J.; Gonzalez, A.; Garcia, S.; Elso, J.; Cordero, J. L.

    1999-01-01

    To determine the efficiency of an early diagnosis programme using ultrasounds (US) of development dysplasia of the hip (DDH), using different criteria to detect patients according to the sex: universal to girls, but only including boys with a DDH risk factor (a physical pathological examination of new born babies, babies born feet first, family history and orthopaedic deformities). Of the 3,469 children born at our hospital during one specific year, 1,721 were included in the programme. US was carried out on all of them, following the Graf technique, when they were a month old, with the exception of the new born babies who were studied during their first week by means of a physical pathological examination. The babies who were diagnosed with physically immature hips in this first study using US; were followed up. Thirty-two babies born during the year suffered from DDH (a rate of 9.2 per thousand). Among them there was only 1 case of delayed DDH (that was not detected in the programme). Seven babies were diagnosed with DDH thanks to the follow up procedures carried out on babies with physically immature hips. Putting this programme for early diagnosis into practices has achieved the almost total disappearance of delayed DDH. When comparing the results with previous periods, where different early detection systems were used, the duration and the aggressiveness of the treatment has reduced considerably. Follow up procedures using US of physically immature hips is obligatory. (Author) 14 refs

  11. Irreducible Inguinal Hernias in the Paediatric Age Group | Ezomike ...

    African Journals Online (AJOL)

    BACKGROUND: An inguinal hernia is said to be irreducible when the content fails to return into the peritoneal cavity without surgical intervention. Irreducibility is an ever present risk in untreated inguinal hernias and its management remains an important part of pediatric surgery practice. When a hernia is irreducible ...

  12. Measurement of center-edge angle in developmental dysplasia of the hip: a comparison of two methods in patients under 20 years of age

    Energy Technology Data Exchange (ETDEWEB)

    Oemeroglu, H. [Department of Orthopaedics and Traumatology, Osmangazi University Hospital, Eskisehir (Turkey); Genclik Cad., Ankara (Turkey); Bicimoglu, A. [Department of Orthopaedics and Traumatology, Ankara Numune Hospital, Ankara (Turkey); Agus, H. [Department of Orthopaedics and Traumatology, S.S.K. Tepecik Hospital, Izmir (Turkey); Tuemer, Y. [Orthopaedics and Traumatology Center, Ankara (Turkey)

    2002-01-01

    Objective: To analyse in detail the two methods for the measurement of the center-edge (CE) angle in developmental dysplasia of the hip (DDH) in children and adolescents. Design: Four observers independently interpreted the radiographs of 51 surgically treated and 15 unaffected hips on two occasions. CE angle was measured by using two methods: classic (Wiberg) and refined (Ogata et al.). Intraobserver and interobserver variations of both methods were calculated and the effect of age and treatment type on the two measurement methods were analysed. Results: Following 528 measurements in 66 hips, the mean classic CE angle was 28.2 and the mean refined CE angle, 19.9 . The classic CE angle had nearly 1 less intraobserver and interobserver variation than the refined CE angle. Classic angle measurements were obviously higher than refined ones in the hips of children under 9 years of age and in hips in which an innominate osteotomy had been performed. Conclusion: Although CE angle of Wiberg, which is an important radiographic indicator, has an adequate level of reliability and reproducibility it may not reflect the true lateral femoral head coverage in some cases. (orig.)

  13. The incidence of avascular necrosis and the radiographic outcome following medial open reduction in children with developmental dysplasia of the hip: a systematic review.

    Science.gov (United States)

    Gardner, R O E; Bradley, C S; Howard, A; Narayanan, U G; Wedge, J H; Kelley, S P

    2014-02-01

    The incidence of clinically significant avascular necrosis (AVN) following medial open reduction of the dislocated hip in children with developmental dysplasia of the hip (DDH) remains unknown. We performed a systematic review of the literature to identify all clinical studies reporting the results of medial open reduction surgery. A total of 14 papers reporting 734 hips met the inclusion criteria. The mean follow-up was 10.9 years (2 to 28). The rate of clinically significant AVN (types 2 to 4) was 20% (149/734). From these papers 221 hips in 174 children had sufficient information to permit more detailed analysis. The rate of AVN increased with the length of follow-up to 24% at skeletal maturity, with type 2 AVN predominating in hips after five years' follow-up. The presence of AVN resulted in a higher incidence of an unsatisfactory outcome at skeletal maturity (55% vs 20% in hips with no AVN; p AVN was identified when surgery was performed in children aged AVN.

  14. Irreducible projective representations and their physical applications

    Science.gov (United States)

    Yang, Jian; Liu, Zheng-Xin

    2018-01-01

    An eigenfunction method is applied to reduce the regular projective representations (Reps) of finite groups to obtain their irreducible projective Reps. Anti-unitary groups are treated specially, where the decoupled factor systems and modified Schur’s lemma are introduced. We discuss the applications of irreducible Reps in many-body physics. It is shown that in symmetry protected topological phases, geometric defects or symmetry defects may carry projective Rep of the symmetry group; while in symmetry enriched topological phases, intrinsic excitations (such as spinons or visons) may carry projective Rep of the symmetry group. We also discuss the applications of projective Reps in problems related to spectrum degeneracy, such as in search of models without sign problem in quantum Monte Carlo simulations.

  15. Irreducible lateral dislocation of the elbow.

    Directory of Open Access Journals (Sweden)

    Chhaparwal M

    1997-01-01

    Full Text Available A rare case of an irreducible post-traumatic lateral dislocation of elbow is presented. The mechanism of injury was fall on a flexed elbow with trauma on its medial aspect resulting in pronation of the forearm. At open reduction, the brachialis muscle was in the form of a tight band which prevented reduction. The ulnar nerve was entrapped in the joint.

  16. Kidney Dysplasia

    Science.gov (United States)

    ... whose mothers used certain prescription medications or illegal drugs during pregnancy What are the signs of kidney dysplasia? Many ... the use of certain prescription medications or illegal drugs during pregnancy. Pregnant women should talk with their health care ...

  17. Joined at the hip? A paleoepidemiological study of developmental dysplasia of the hip and its relation to swaddling practices among indigenous peoples of North America.

    Science.gov (United States)

    Blatt, Samantha H

    2013-01-01

    Clinical prevalence of developmental dysplasia of the hip (DDH) is the highest among modern indigenous populations of North America, yet no systematic study of the paleoepidemiology of this group exists. This study discusses the skeletal criteria, epidemiology, pathophysiology, and risk factors for DDH. A range of cases of DDH from an archaeological Native American population are described, and the clinical and prehistoric prevalence of DDH among indigenous populations of North America are calculated and discussed within a biocultural perspective. Pelves of 390 adults from the Late Prehistoric (1490 BP ± 70) Buffalo site, West Virginia were examined for DDH. Morphology of true and false acetabula was classified and other changes of the pelvis, lower limb, and spine were noted along with cranial deformation, providing evidence of infant restriction. Prevalence of DDH among living and archaeological indigenous peoples of North America were calculated and compared. DDH was identified in eighteen adults from Buffalo, resulting in a prevalence of 46.15, within the range reported in modern indigenous groups in North America. However, there is a significant difference between the DDH prevalence in prehistory and today in the target population. Indigenous peoples of North America have the highest reported global prevalence of DDH today and in prehistory. The etiology of DDH suggests that components of both genetic predisposition and swaddling practices have combined to create a high-risk environment for the development of DDH, contributing to its high prevalence within archaeological populations, like Buffalo, and modern Native American/Aboriginal groups within North America. Copyright © 2013 Wiley Periodicals, Inc.

  18. Evaluation of late redislocation in patients who underwent open reduction and pelvic osteotomy as treament for developmental dysplasia of the hip.

    Science.gov (United States)

    Tuhanioğlu, Ümit; Cicek, Hakan; Ogur, Hasan U; Seyfettinoglu, Firat; Kapukaya, Ahmet

    2017-10-16

    The goal in the treatment of developmental dysplasia of the hip (DDH) is to achieve a stable and concentric reduction and to create a congruent relationship between the femoral head and the acetabulum. This study discusses the causes of loss of reduction in DDH patients who had a concentrically reduced hip at the time of removal of the hip spica cast and cessation of brace use and who later appeared with hip redislocation after mobilisation and ambulation. In addition, the possible interventions in such cases are also discussed. A retrospective evaluation was made of 13 patients diagnosed with DDH who developed redislocation following primary surgery. 6 of them had undergone the 1st surgery in our department between 2008 and 2016 and 7 had udergone surgery in another centre. For comparison reasons a 2nd group was formed of 13 demographically and clinically matched patients who had no loss of reduction. The groups were compared in terms of acetabular index, pelvic length, pelvic width, abduction degree of plaster, ossifying nucleus diameter, acetabular depth, and acetabular volume parameters. The average age of the patients was 23 months at initial surgery and 29 months at the time of revision surgery. No significant difference was found between the groups in terms of acetabular inclination angle, ossifying nucleus diameter, pelvic size, pelvic width, centre edge angle, acetabular volume, and depth. Contracted inferomedial capsule was found in 1 patient who underwent revision surgery and intact transverse acetabular ligament was seen in 1 patient. The loss of reduction in the remaining 11 patients was associated with high total anteversion of the femoral head and acetabulum. Correction of increased combined anteversion by femoral osteotomy can create a safe zone in terms of redislocation and can significantly contribute to the stability provided by capsulorrhaphy and pelvic osteotomy.

  19. Evaluation of Medial Acetabular Wall Bone Stock in Patients with Developmental Dysplasia of the Hip Using a Helical Computed Tomography Multiplanar Reconstruction Technique

    Energy Technology Data Exchange (ETDEWEB)

    Rui Yu Liu; Kun Zheng Wang; Chun Sheng Wang; Xiao Qian Dang; Zhi Qin Tong (Second Hospital Affiliated to the Medical College of Xi' an Jiaotong Univ., Xi' an Shaanxi (China))

    2009-08-15

    Background: The technique of medialization has been used to reconstruct acetabula at the level of true acetabula in total hip arthroplasty (THA) in patients with developmental dysplasia of the hip (DDH). Appreciation of the bone stock in the medial acetabular wall is significant for making an optimal acetabular reconstruction plan and avoiding complications. Purpose: To evaluate the bone stock of the medial acetabular wall and its relation to the degree of subluxation in patients with DDH using computed tomography (CT). Material and Methods: Helical CT scans of 27 hips were obtained from 21 patients with osteoarthritis secondary to DDH who were scheduled for total hip arthroplasty. Eleven hips belonged to Crowe class I, while 16 hips belonged to Crowe class II/III. The raw CT data were reprocessed in various planes by scrolling multiplanar reformation (MPR). Acetabular opening, depth, and medial bone stock, as indicated by the minimum thickness of the medial acetabular wall, were measured in the transverse reformed MPR plane. Results: The minimum thicknesses of the medial acetabular wall in Crowe-I and Crowe-II/III hips were 3.8+-2.1 mm and 7.1+-3.1 mm, respectively, with statistically significant differences between the groups (P<0.05). Furthermore, the bone stock in the medial acetabular wall correlated with the degree of subluxation (R=0.69) and the acetabular depth (R= ;- ;0.71). Conclusion: There was significantly more bone stock in the medial acetabular wall in patients with higher-degree subluxation than there was in the less-severe class. This difference should be taken into consideration when reconstructing acetabula in THA in patients with DDH using the technique of medialization

  20. Developmental dysplasia of the hip, age, BMI, place of residence and tobacco abuse increase the odds of aseptic loosening in Chinese patients.

    Directory of Open Access Journals (Sweden)

    Chuanlong Wu

    Full Text Available PURPOSE: The purpose of this hospital-based case-control study was to evaluate the patient-related risk factors for aseptic loosening after total hip arthroplasty (THA and total knee arthroplasty (TKA in Chinese patients. METHODS: From January 2000 to December 2012, 67 patients undergoing THA and TKA who developed aseptic loosening were detected as case subjects and 336 patients without aseptic loosening, matched by the year of index surgery and type of surgery, were selected as controls. Conditional logistic regression was used to compute odds ratios (ORs and 95% confidence intervals (CIs. RESULTS: The demographic factors and comorbid conditions associated with a risk-adjusted increase in aseptic loosening (in decreasing order of significance were a rural place of residence (OR = 2.28; 95% CI: 1.21-4.30; p = 0.011, body mass index (BMI ≥ 28 kg/m(2 (vs. 18.5-28 kg/m(2 (OR = 2.29; 95% CI: 1.19-4.41; p = 0.013, developmental dysplasia of the hip (DDH (OR = 2.91; 95% CI: 1.11-7.66; p = 0.030, tobacco abuse (OR = 2.88; 95% CI: 1.05-7.89; p = 0.039, and age <45 years (vs. 45-65 years (OR = 2.63; 95% CI: 1.01-6.80; p = 0.047. CONCLUSIONS: Patients aged <45 years and those with a BMI of ≥ 28 kg/m(2, a preoperative diagnosis of DDH, history of tobacco abuse, or living in rural areas are at increased risk for aseptic loosening after THA and TKA in Chinese population. Additional systematic large-scale studies are needed to verify these results.

  1. Gait symmetry and hip strength in women with developmental dysplasia following hip arthroplasty compared to healthy subjects: A cross-sectional study.

    Directory of Open Access Journals (Sweden)

    Ruud A Leijendekkers

    Full Text Available Untreated unilateral developmental dysplasia of the hip (DDH results in asymmetry of gait and hip strength and may lead to early osteoarthritis, which is commonly treated with a total hip arthroplasty (THA. There is limited knowledge about the obtained symmetry of gait and hip strength after the THA. The objectives of this cross-sectional study were to: a identify asymmetries between the operated and non-operated side in kinematics, kinetics and hip strength, b analyze if increased walking speed changed the level of asymmetry in patients c compare these results with those of healthy subjects.Women (18-70 year with unilateral DDH who had undergone unilateral THA were eligible for inclusion. Vicon gait analysis system was used to collect frontal and sagittal plane kinematic and kinetic parameters of the hip joint, pelvis and trunk during walking at comfortable walking speed and increased walking speed. Furthermore, hip abductor and extensor muscle strength was measured.Six patients and eight healthy subjects were included. In the patients, modest asymmetries in lower limb kinematics and kinetics were present during gait, but trunk lateral flexion asymmetry was evident. Patients' trunk lateral flexion also differed compared to healthy subjects. Walking speed did not significantly influence the level of asymmetry. The hip abduction strength asymmetry of 23% was not statistically significant, but the muscle strength of both sides were significantly weaker than those of healthy subjects.In patients with a DDH treated with an IBG THA modest asymmetries in gait kinematics and kinetics were present, with the exception of a substantial asymmetry of the trunk lateral flexion. Increased walking speed did not result in increased asymmetries in gait kinematics and kinetics. Hip muscle strength was symmetrical in patients, but significantly weaker than in healthy subjects. Trunk kinematics should be included as an outcome measure to assess the biomechanical

  2. Evaluation of Medial Acetabular Wall Bone Stock in Patients with Developmental Dysplasia of the Hip Using a Helical Computed Tomography Multiplanar Reconstruction Technique

    International Nuclear Information System (INIS)

    Rui Yu Liu; Kun Zheng Wang; Chun Sheng Wang; Xiao Qian Dang; Zhi Qin Tong

    2009-01-01

    Background: The technique of medialization has been used to reconstruct acetabula at the level of true acetabula in total hip arthroplasty (THA) in patients with developmental dysplasia of the hip (DDH). Appreciation of the bone stock in the medial acetabular wall is significant for making an optimal acetabular reconstruction plan and avoiding complications. Purpose: To evaluate the bone stock of the medial acetabular wall and its relation to the degree of subluxation in patients with DDH using computed tomography (CT). Material and Methods: Helical CT scans of 27 hips were obtained from 21 patients with osteoarthritis secondary to DDH who were scheduled for total hip arthroplasty. Eleven hips belonged to Crowe class I, while 16 hips belonged to Crowe class II/III. The raw CT data were reprocessed in various planes by scrolling multiplanar reformation (MPR). Acetabular opening, depth, and medial bone stock, as indicated by the minimum thickness of the medial acetabular wall, were measured in the transverse reformed MPR plane. Results: The minimum thicknesses of the medial acetabular wall in Crowe-I and Crowe-II/III hips were 3.8±2.1 mm and 7.1±3.1 mm, respectively, with statistically significant differences between the groups (P<0.05). Furthermore, the bone stock in the medial acetabular wall correlated with the degree of subluxation (R=0.69) and the acetabular depth (R= ;- ;0.71). Conclusion: There was significantly more bone stock in the medial acetabular wall in patients with higher-degree subluxation than there was in the less-severe class. This difference should be taken into consideration when reconstructing acetabula in THA in patients with DDH using the technique of medialization

  3. On relativistic irreducible quantum fields fulfilling CCR

    International Nuclear Information System (INIS)

    Baumann, K.

    1987-01-01

    Let phi be a relativistic scalar field fulfilling canonical commutation relations (CCR). Furthermore it is assumed that the time zero fields and momenta form an irreducible set. Based on estimates given by Herbst [I. W. Herbst, J. Math. Phys. 17, 1210 (1976)], and by methods developed by Powers [R. T. Powers, Commun. Math. Phys. 4, 145 (1967)], it is shown that phi has to be a free field in n>3 space dimensions. For n = 3 (resp. n = 2) restrictions that look similar to the restriction in a formal :phi 4 : 3 /sub +/ 1 (resp. :phi 6 : 2 /sub +/ 1 ) theory are obtained

  4. Products of Irreducible Characters Having Complex-Valued Constituents

    Directory of Open Access Journals (Sweden)

    Lisa R. Hendrixson

    2017-06-01

    Full Text Available First, we prove that when a finite solvable group $G$ has a faithful irreducible character $\\chi$ such that $\\chi\\overline{\\chi}$ has two irreducible constituents, both must be real-valued. Then, we study the situation where $\\chi\\overline{\\chi}$ has exactly three distinct nonprincipal irreducible constituents, two of which are complex conjugates. In this case, we prove that $G$ has derived length bounded above by $6$.

  5. Ectodermal dysplasia

    Directory of Open Access Journals (Sweden)

    Sonia Saggoo

    2009-01-01

    Full Text Available Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an X-linked recessive mendelian character which is rarely seen in males. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Patients with this disorder exhibit smooth , thin and dry skin, fine and blond scanty hair. Intra-orally anodontia or hypodontia, with impaired development of alveolar process is seen. A case report of a rare case of this disorder in a female patient aged 18 years is hereby presented.

  6. Sponastrime dysplasia

    International Nuclear Information System (INIS)

    Lachman, R.S.; California Univ., Los Angeles, Torrance, CA; Stoss, H.; Spranger, J.

    1989-01-01

    The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.)

  7. Ilfeld abduction orthosis is an effective second-line treatment after failure of Pavlik harness for infants with developmental dysplasia of the hip.

    Science.gov (United States)

    Sankar, Wudbhav N; Nduaguba, Afamefuna; Flynn, John M

    2015-02-18

    Closed reduction and spica casting is the most commonly recommended choice for infants with developmental dysplasia of the hip (DDH) for whom Pavlik harness treatment has failed, but it requires general anesthesia in addition to the challenges of spica cast care. The purposes of this study were to evaluate the effectiveness of Ilfeld bracing for infants for whom Pavlik harness treatment is unsuccessful and to compare these results with those for a similar cohort of patients directly undergoing closed reduction and spica casting. We reviewed the cases of a consecutive series of children with DDH who had failure of Pavlik harness treatment and were subsequently managed with Ilfeld bracing (the BR cohort) and compared this cohort with a similar historical group of infants who had failure of Pavlik harness treatment but had standard closed reduction and spica casting (the CR cohort). The cohorts were compared with respect to clinical and ultrasonographic data at the time of Pavlik discontinuation. At one year, the hip stability and acetabular index were assessed; the presence of osteonecrosis was graded according to the criteria described by Salter et al. Twenty-eight hips (nineteen infants) made up the BR cohort and twenty-two hips (sixteen infants) made up the CR cohort. Ultrasonographic indices (including the alpha angle and the percentage of femoral head coverage) were comparable between the two cohorts (p=0.66 and 0.19, respectively). Following treatment, a stable reduction was achieved in twenty-three (82%) of twenty-eight hips in the BR cohort compared with twenty (91%) of twenty-two hips in the CR cohort. At one year, acetabular indices were similar between both cohorts (mean and standard deviation, 27°±6° for the BR cohort versus 27°±5° for the CR cohort; p=0.62); however, osteonecrosis developed in three hips in the CR cohort compared with none in the BR cohort. In our series of infants with DDH for whom Pavlik harness treatment had failed, Ilfeld

  8. Pseudoachondroplastic dysplasia.

    Directory of Open Access Journals (Sweden)

    Khungar A

    1993-04-01

    Full Text Available Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. We report here a case of a 7 year old girl misdiagnosed as rickets, who presented with short stature, lordosis, genu varum and flexion deformities at both the elbows. Skeletal survey revealed epiphyseal and metaphyseal irregularities. A review of literature is also presented.

  9. Frontofacionasal Dysplasia

    African Journals Online (AJOL)

    rme

    226. Frontofacionasal Dysplasia: Another Observation eye. Other ocular features include small eyes, iris colobomas and cataracts. A frontally situated lipoma, causing a swelling at the nasion, was reported in one patient and an encephalocele has been described.3. Mental retardation has been reported in one patient with.

  10. An irreducible ankle fracture dislocation: the Bosworth injury

    NARCIS (Netherlands)

    Schepers, Tim; Hagenaars, Tjebbe; den Hartog, Dennis

    2012-01-01

    Irreducible fracture dislocations of the ankle are rare and represent true orthopedic emergencies. We present a case of a fracture dislocation that was irreducible owing to a fixed dislocation of the proximal fibular fragment posterior to the lateral ridge of the tibia. This particular type of

  11. The tree technique and irreducible tensor operators for the quantum algebra suq (2). The algebra of irreducible tensor operators

    International Nuclear Information System (INIS)

    Smirnov, Yu.F.; Tolstoi, V.N.; Kharitonov, Yu.I.

    1993-01-01

    The tree technique for the quantum algebra su q (2) developed in an earlier study is used to construct the q analog of the algebra of irreducible tensor operators. The adjoint action of the algebra su q (2) on irreducible tensor operators is discussed, and the adjoint R matrix is introduced. A set of expressions is obtained for the matrix elements of various irreducible tensor operators and combinations of them. As an application, the recursion relations for the Clebsch-Gordan and Racah coefficients of the algebra su q (2) are derived. 16 refs

  12. Irreducible multiqutrit correlations in Greenberger-Horne-Zeilinger-type states

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Fu-Lin [Physics Department, School of Science, Tianjin University, Tianjin 300072 (China); Chen, Jing-Ling [Theoretical Physics Division, Chern Institute of Mathematics, Nankai University, Tianjin, 300071 (China); Centre for Quantum Technologies, National University of Singapore, 3 Science Drive 2, Singapore 117543 (Singapore)

    2011-12-15

    Following the idea of the continuity approach by D. L. Zhou [Phys. Rev. Lett. 101, 180505 (2008)], we obtain the degrees of irreducible multiparty correlations in two families of n-qutrit Greenberger-Horne-Zeilinger-type states. For the pure states in one of the families, the irreducible 2-party, n-party, and (n-m)-party (0irreducible n-qutrit correlation in the maximal slice state. This enlightens us to give a discussion about how to characterize the pure states with irreducible n-party correlation in arbitrarily high-dimensional systems by the way of the continuity approach.

  13. Irreducible multiqutrit correlations in Greenberger-Horne-Zeilinger-type states

    International Nuclear Information System (INIS)

    Zhang, Fu-Lin; Chen, Jing-Ling

    2011-01-01

    Following the idea of the continuity approach by D. L. Zhou [Phys. Rev. Lett. 101, 180505 (2008)], we obtain the degrees of irreducible multiparty correlations in two families of n-qutrit Greenberger-Horne-Zeilinger-type states. For the pure states in one of the families, the irreducible 2-party, n-party, and (n-m)-party (0< m< n-2) correlations are nonzero, which is different from the n-qubit case. We also derive the correlation distributions in the n-qutrit maximal slice state, which can be uniquely determined by its (n-1)-qutrit-reduced density matrices among pure states. It is proved that there is no irreducible n-qutrit correlation in the maximal slice state. This enlightens us to give a discussion about how to characterize the pure states with irreducible n-party correlation in arbitrarily high-dimensional systems by the way of the continuity approach.

  14. Irreducible Tests for Space Mission Sequencing Software

    Science.gov (United States)

    Ferguson, Lisa

    2012-01-01

    As missions extend further into space, the modeling and simulation of their every action and instruction becomes critical. The greater the distance between Earth and the spacecraft, the smaller the window for communication becomes. Therefore, through modeling and simulating the planned operations, the most efficient sequence of commands can be sent to the spacecraft. The Space Mission Sequencing Software is being developed as the next generation of sequencing software to ensure the most efficient communication to interplanetary and deep space mission spacecraft. Aside from efficiency, the software also checks to make sure that communication during a specified time is even possible, meaning that there is not a planet or moon preventing reception of a signal from Earth or that two opposing commands are being given simultaneously. In this way, the software not only models the proposed instructions to the spacecraft, but also validates the commands as well.To ensure that all spacecraft communications are sequenced properly, a timeline is used to structure the data. The created timelines are immutable and once data is as-signed to a timeline, it shall never be deleted nor renamed. This is to prevent the need for storing and filing the timelines for use by other programs. Several types of timelines can be created to accommodate different types of communications (activities, measurements, commands, states, events). Each of these timeline types requires specific parameters and all have options for additional parameters if needed. With so many combinations of parameters available, the robustness and stability of the software is a necessity. Therefore a baseline must be established to ensure the full functionality of the software and it is here where the irreducible tests come into use.

  15. Irreducible almost simple subgroups of classical algebraic groups

    CERN Document Server

    Burness, Timothy C; Marion, Claude; Testerman, Donna M

    2015-01-01

    Let G be a simple classical algebraic group over an algebraically closed field K of characteristic p\\geq 0 with natural module W. Let H be a closed subgroup of G and let V be a nontrivial p-restricted irreducible tensor indecomposable rational KG-module such that the restriction of V to H is irreducible. In this paper the authors classify the triples (G,H,V) of this form, where V \

  16. A radiologist's guide to the imaging in the diagnosis and treatment of developmental dysplasia of the hip. Pt. 1. General considerations, physical examination as applied to real-time sonography and radiography

    International Nuclear Information System (INIS)

    Gerscovich, E.O.

    1997-01-01

    Developmental dysplasia of the hip (DDH) has a broad spectrum of presentation with the minor findings resolving spontaneously and the most severe ones resulting in disability, if not diagnosed early in life. Diagnosis in the first few months of life allows conservative treatment with complete resolution in most cases. Suspicion of DDH is based on ethnic, family, and pregnancy history, and on physical examination of the newborn. Imaging assists in the diagnosis and follows the treatment. Different modalities have their own advantages and disadvantages. This article deals with the description of the disease, risk factors, statistics, the physical examination as applied to real-time sonography, and imaging (plain radiography, arthrography, computed tomography, and magnetic resonance imaging). (orig.). With 26 figs., 1 tab

  17. A radiologist`s guide to the imaging in the diagnosis and treatment of developmental dysplasia of the hip. Pt. 1. General considerations, physical examination as applied to real-time sonography and radiography

    Energy Technology Data Exchange (ETDEWEB)

    Gerscovich, E.O. [Department of Radiology, University of California, Davis Medical Center, 2516 Stockton Blvd., Ticon II Building, Sacramento, CA 95817 (United States)

    1997-07-07

    Developmental dysplasia of the hip (DDH) has a broad spectrum of presentation with the minor findings resolving spontaneously and the most severe ones resulting in disability, if not diagnosed early in life. Diagnosis in the first few months of life allows conservative treatment with complete resolution in most cases. Suspicion of DDH is based on ethnic, family, and pregnancy history, and on physical examination of the newborn. Imaging assists in the diagnosis and follows the treatment. Different modalities have their own advantages and disadvantages. This article deals with the description of the disease, risk factors, statistics, the physical examination as applied to real-time sonography, and imaging (plain radiography, arthrography, computed tomography, and magnetic resonance imaging). (orig.). With 26 figs., 1 tab.

  18. Mondini dysplasia

    International Nuclear Information System (INIS)

    Takeda, Taizo; Kakigi, Akinobu; Takeuchi, Shunji; Saito, Haruo

    1992-01-01

    Recent advances in imaging technique, including high resolution thin section computed tomography scanning and magnetic resonance imaging (MRI), permit the easy diagnosis of congenital malformations of the osseous labyrinth, which have so far been lumped together as 'Mondini dysplasia'. In the present study, the anatomic patterns from the radiogrpahic appearance and the clinical manifestation were examined in 18 patients (23 ears) with radiographic abnormalities of the inner ear. The most common abnormal configuration was a large vestibule (20 of 23 ears). This anomaly of the vestibule often involved the lateral semicircular canal, revealed as a round high signal zone on T2-weighted MRI. However, a large vestibule was not always associated with an abnormal cochlea. Abnormal cochleas were found in 8 of the 20 ears with a large vestibule, and most of these 8 ears had total or profound deafness. But 4 of the 10 ears with residual hearing had low tone deafness and 6 had fluctuating hearing loss, which was frequently associated with attacks of dizziness. These clinical manifestations of Mondini dysplasia are similar to those of patients with endolymphatic hydrops. (author)

  19. Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): ''SMD-Corner Fracture Type'' (DCV/SMD-CF) demonstrated in most reported cases

    Energy Technology Data Exchange (ETDEWEB)

    Currarino, G. [Texas Univ., Dallas, TX (United States). Dept. of Radiology; Department of Radiology, Texas Scottish Rite Hospital for Children, 2222 Welborn Street, Dallas, TX 75219 (United States); Birch, J.G.; Herring, J.A. [Department of Orthopedic Surgery, Texas Scottish Rite Hospital for Children, Dallas, TX (United States)

    2000-01-01

    Background. This paper reports three children with short stature: developmental coxa vara unilateral in the first case and bilateral in the other two; somewhat squared and ''ovoid'' vertebral bodies in the first patient, and normal to slightly tall vertebral bodies in the third; metaphyseal changes in some long tubular bones including bone fragments similar to the corner fractures seen in child abuse in all three patients. Materials and methods. The first and second patients were sisters; their mother, also quite short, had surgical procedures in early life for bilateral ''coxa vara''; their brother, also of short stature, had bilateral coxa valga with otherwise normal femoral heads and necks, and mild metaphyseal changes associated with two minute ''corner fractures'' in the proximal metaphysis of the left tibia. Results. A review of reported cases of developmental coxa vara associated with spondylometaphyseal dysplasia revealed that simulated corner fractures were present in most instances. (orig.)

  20. Irreducible descriptive sets of attributes for information systems

    KAUST Repository

    Moshkov, Mikhail

    2010-01-01

    The maximal consistent extension Ext(S) of a given information system S consists of all objects corresponding to attribute values from S which are consistent with all true and realizable rules extracted from the original information system S. An irreducible descriptive set for the considered information system S is a minimal (relative to the inclusion) set B of attributes which defines exactly the set Ext(S) by means of true and realizable rules constructed over attributes from the considered set B. We show that there exists only one irreducible descriptive set of attributes. We present a polynomial algorithm for this set construction. We also study relationships between the cardinality of irreducible descriptive set of attributes and the number of attributes in S. The obtained results will be useful for the design of concurrent data models from experimental data. © 2010 Springer-Verlag.

  1. Alexander-equivalent Zariski pairs of irreducible sextics

    DEFF Research Database (Denmark)

    Eyral, Christophe; Oka, Mutsuo

    2009-01-01

    The existence of Alexander-equivalent Zariski pairs dealing with irreducible curves of degree 6 was proved by Degtyarev. However, no explicit example of such a pair is available (only the existence is known) in the literature. In this paper, we construct the first concrete example.......The existence of Alexander-equivalent Zariski pairs dealing with irreducible curves of degree 6 was proved by Degtyarev. However, no explicit example of such a pair is available (only the existence is known) in the literature. In this paper, we construct the first concrete example....

  2. Oculodentodigital dysplasia

    Directory of Open Access Journals (Sweden)

    Dharmil C Doshi

    2016-01-01

    Full Text Available Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo, teeth (dento, and fingers and/or toes (digital. The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood.

  3. Spondylometaphyseal dysplasia with hypercalcemia

    International Nuclear Information System (INIS)

    Bagga, A.; Srivastava, R.N.; Gupta, S.; Gupta, A.

    1989-01-01

    Kozlowski's spondylometaphyseal dysplasia is characterised by short-trunk dwarfism, platyspondyly, metaphyseal dysplasia and retarded bone age. We report an association of this syndrome with asymptomatic, hypocalciuric hypercalcemia, a previously undocumented finding. (orig.)

  4. Asphyxiating thoracic dysplasia

    International Nuclear Information System (INIS)

    Franzcr, J.; Kozlowski, K.

    2008-01-01

    Asphyxiating Thoracic Dysplasia is the most frequent form of Small Thorax - Short Rib Syndromes. Asphyxiating Thoracic Dysplasia in two patients with different clinical course is reported. Radiographic examination is the only method to diagnose Asphyxiating Thoracic Dysplasia with certainty. The correct diagnosis is important for prognostication and genetic counseling. It also excludes the necessity of further, often expensive investigations. (author)

  5. Irreducible Fifth Metatarsophalangeal Joint after Car Crush Injury

    Science.gov (United States)

    Turkmensoy, Fatih; Erinc, Samet; Ergin, Omer Naci; Ozkan, Korhan; Kemah, Bahattin

    2015-01-01

    Metatarsophalangeal joint dislocations are uncommon injuries. Herein, an irreducible dislocation of fifth metatarsophalangeal joint with fractures on the second, third, and fourth metatarsal head was reported. Joint reduction could not be achieved which necessitated open reduction. Six months after surgery the patient was walking and doing his daily activities without any complaints. He had returned to his pretrauma functional level. PMID:25861501

  6. Irreducible descriptive sets of attributes for information systems

    KAUST Repository

    Moshkov, Mikhail; Skowron, Andrzej; Suraj, Zbigniew

    2010-01-01

    . An irreducible descriptive set for the considered information system S is a minimal (relative to the inclusion) set B of attributes which defines exactly the set Ext(S) by means of true and realizable rules constructed over attributes from the considered set B

  7. Irreducible Fifth Metatarsophalangeal Joint after Car Crush Injury

    Directory of Open Access Journals (Sweden)

    Fatih Turkmensoy

    2015-01-01

    Full Text Available Metatarsophalangeal joint dislocations are uncommon injuries. Herein, an irreducible dislocation of fifth metatarsophalangeal joint with fractures on the second, third, and fourth metatarsal head was reported. Joint reduction could not be achieved which necessitated open reduction. Six months after surgery the patient was walking and doing his daily activities without any complaints. He had returned to his pretrauma functional level.

  8. Fibromuscular dysplasia

    Directory of Open Access Journals (Sweden)

    Jeunemaitre Xavier

    2007-06-01

    Full Text Available Abstract Fibromuscular dysplasia (FMD, formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4/1000 and the prevalence of cervicocranial FMD is probably half that. Histological classification discriminates three main subtypes, intimal, medial and perimedial, which may be associated in a single patient. Angiographic classification includes the multifocal type, with multiple stenoses and the 'string-of-beads' appearance that is related to medial FMD, and tubular and focal types, which are not clearly related to specific histological lesions. Renovascular hypertension is the most common manifestation of renal artery FMD. Multifocal stenoses with the 'string-of-beads' appearance are observed at angiography in more than 80% of cases, mostly in women aged between 30 and 50 years; they generally involve the middle and distal two-thirds of the main renal artery and in some case also renal artery branches. Cervicocranial FMD can be complicated by dissection with headache, Horner's syndrome or stroke, or can be associated with intracerebral aneurysms with a risk of subarachnoid or intracerebral hemorrhage. The etiology of FMD is unknown, although various hormonal and mechanical factors have been suggested. Subclinical lesions are found at arterial sites distant from the stenotic arteries, and this suggests that FMD is a systemic arterial disease. It appears to be familial in 10% of cases. Noninvasive diagnostic tests include, in increasing order of accuracy, ultrasonography, magnetic resonance angiography and computed tomography angiography. The gold standard for diagnosing FMD is catheter angiography, but this invasive procedure is only used for patients in whom it is clinically pertinent to proceed with revascularization during the same procedure. Differential diagnosis include

  9. Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia

    International Nuclear Information System (INIS)

    Agarwal, Prachi Pragya; Srinivasan, Ashok; Sharma, Raju; Gupta, Arun Kumar; Kabra, Madhulika

    2003-01-01

    A rare case of spondylo-megaepiphyseal-metaphyseal dysplasia is reported in a 10-year-old boy. The features were metaphyseal dysplasia, markedly defective ossification of vertebral body centres and enlarged epiphyses. Although it shares some features with spondylo-metaphyseal dysplasia, oto-spondylo-megaepiphyseal dysplasia and cleidocranial dysplasia, the presence of several unusual radiological findings sets it apart. (orig.)

  10. A simple technique to strengthen the initial and mid-term to long-term stability of the cup during total hip arthroplasty in developmental dysplasia of the hip.

    Science.gov (United States)

    Guan, Mingqiang; Zhou, Guanming; Li, Xue

    2018-04-01

    To assess the effects of a technique of cup blocking screws combined with impaction bone grafting during total hip arthroplasty (THA) for patients with developmental dysplasia of the hip (DDH). From August 2011 to July 2015, 53 patients (59 hips) with DDH in our hospital were treated with THA using the technique of cup blocking screws combined with impaction particulate bone grafting. These patients were prospectively followed, and the clinical and imaging results were collected. Harris hip score (HHS) was raised from 41.24 before surgery to 91.49 at the latest follow-up (p less than 0.001). Length discrepancy (LLD) was reduced from 28.97 mm before surgery to 6.08 mm after surgery (p less than 0.001). No loosening of the cup was detected at the last follow-up. The differences were insignificant in cup inclination and rate of cup coverage among the 3 groups of Crowe type II, type III, and type IV DDH (p greater than 0.05). The technique of cup blocking screws combined with impaction particulate bone grafting is simple and reliable, and it not only simplifies the attainment of initial stability, but also strengthens the mid-term to long-term stability during THA in DDH.

  11. On the Directly and Subdirectly Irreducible Many-Sorted Algebras

    Directory of Open Access Journals (Sweden)

    Climent Vidal J.

    2015-03-01

    Full Text Available A theorem of single-sorted universal algebra asserts that every finite algebra can be represented as a product of a finite family of finite directly irreducible algebras. In this article, we show that the many-sorted counterpart of the above theorem is also true, but under the condition of requiring, in the definition of directly reducible many-sorted algebra, that the supports of the factors should be included in the support of the many-sorted algebra. Moreover, we show that the theorem of Birkhoff, according to which every single-sorted algebra is isomorphic to a subdirect product of subdirectly irreducible algebras, is also true in the field of many-sorted algebras.

  12. Irreducible diagrams in Landau-Ginzburg field theory

    Energy Technology Data Exchange (ETDEWEB)

    Witten, Jr, T A [Michigan Univ., Ann Arbor (USA). Dept. of Psychology

    1981-10-19

    It is shown that the free energy W of a Landau-Ginzburg-Wilson field theory with O(n) symmetry may be written in terms of the generating function V of diagrams irreducible in both propagator and interaction lines. This generalizes and simplifies a recent result of Des Cloizeaux. The functions W and V are related by a type of Legendre transformation on the bare mass variable.

  13. General quantum polynomials: irreducible modules and Morita equivalence

    International Nuclear Information System (INIS)

    Artamonov, V A

    1999-01-01

    In this paper we continue the investigation of the structure of finitely generated modules over rings of general quantum (Laurent) polynomials. We obtain a description of the lattice of submodules of periodic finitely generated modules and describe the irreducible modules. We investigate the problem of Morita equivalence of rings of general quantum polynomials, consider properties of division rings of fractions, and solve Zariski's problem for quantum polynomials

  14. Irreducible integrable theories form tensor products of conformal models

    International Nuclear Information System (INIS)

    Mathur, S.D.; Warner, N.P.

    1991-01-01

    By using Toda field theories we show that there are perturbations of direct products of conformal theories that lead to irreducible integrable field theories. The same affine Toda theory can be truncated to different quantum integrable models for different choices of the charge at infinity and the coupling. The classification of integrable models that can be obtained in this fashion follows the classification of symmetric spaces of type G/H with rank H = rank G. (orig.)

  15. Irreducible mass for the Tomimatsu-Sato space-time

    Energy Technology Data Exchange (ETDEWEB)

    Calvani, M [Padua Univ. (Italy). Ist. di Astronomia; Salmistraro, F; Catenacci, R

    1979-01-01

    A global definition of irreducible mass for the odd delta T-S metrics is investigated. It is found that its expression in terms of the source parameters is the same for all the members of the family and reduces to the formula that holds in the Kerr case (delta = 1). As a consequence, it is shown that processes with msub(ir) = const no longer imply zero variations of the horizon's area for delta > 1.

  16. Genetics Home Reference: boomerang dysplasia

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Boomerang dysplasia Boomerang dysplasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Boomerang dysplasia is a disorder that affects the development ...

  17. Progressive pseudorheumatoid dysplasia misdiagnosed as ...

    African Journals Online (AJOL)

    Progressive pseudorheumatoid dysplasia misdiagnosed as seronegative juvenile idiopathic arthritis. Ozgur Taspinar, Fatih Kelesoglu, Yasar Keskin, Murat Uludag. Abstract. Background: Progressive pseudorheumatoid dysplasia (PPD) is a rare spondylo- epi-metaphyseal dysplasia (SEMD). It can be confused with juvenile ...

  18. TREATMENT OF HIP DYSPLASIA

    OpenAIRE

    Iulian ICLEANU; Mariana CORDUN

    2015-01-01

    In this thesis, our purpose is to show that using physiotherapy on patients with hip dysplasia from the very beginning, in the first months of life, helps treating them faster. Common literature proposes to use physiotherapy on patients with hip dysplasia either after their recovery or in the terminal phase of recovery, claiming that any earlier intervention will prolong the hip recovery. The effects of hip dysplasia reflect over the whole musculoskeletal system, while it hinders the knees (g...

  19. Spondyloepiphyseal dysplasia congenita

    International Nuclear Information System (INIS)

    Macpherson, R.I.; Wood, B.P.

    1980-01-01

    Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed. (orig.) [de

  20. Genetics Home Reference: osteoglophonic dysplasia

    Science.gov (United States)

    ... 1 link) Genetic Testing Registry: Osteoglophonic dysplasia Other Diagnosis and Management Resources (1 link) Seattle Children's Hospital: Dwarfism and Bone Dysplasias General Information from MedlinePlus (5 ...

  1. p63 in skin development and ectodermal dysplasias

    Science.gov (United States)

    Koster, Maranke I.

    2010-01-01

    The transcription factor p63 is critically important for skin development and maintenance. Processes that require p63 include epidermal lineage commitment, epidermal differentiation, cell adhesion, and basement membrane formation. Not surprisingly, alterations in the p63 pathway underlie a subset of ectodermal dysplasias, developmental syndromes in which the skin and skin appendages do not develop normally. This review summarizes the current understanding of the role of p63 in normal development and ectodermal dysplasias. PMID:20445549

  2. Developmental dysplasia of the hip: impact of sonographic newborn hip screening on the outcome of early treated decentered hip joints-a single center retrospective comparative cohort study based on Graf's method of hip ultrasonography.

    Science.gov (United States)

    Tschauner, Christian; Fürntrath, Frank; Saba, Yasaman; Berghold, Andrea; Radl, Roman

    2011-12-01

    PURPOSE/BACKGROUND/INTRODUCTION: The aim of this study was to retrospectively evaluate the impact of neonatal sonographic hip screening using Graf's method for the management and outcome of orthopaedic treatment of decentered hip joints with developmental dysplasia of the hip (DDH), using three decades (1978-2007) of clinical information compiled in a medical database. Three representative cohorts of consecutive cases of decentered hip joints were selected according to different search criteria and inclusion and exclusion parameters: (1) cohort 1 (1978-1982; n = 80), without sonographic screening; (2) cohort 2.1 (1994-1996; n = 91), with nationwide established general sonographic screening according to the Graf-method; (3) cohort 2.2 (2003-2005; n = 91), with sonographic screening including referred cases for open reduction from non-screened populations. These three cohorts were compared for the following parameters: age at initial treatment, successful closed reduction, necessary overhead traction, necessary adductor-tenotomy, rate of open reduction, rate of avascular necrosis (AVN) and rate of secondary acetabuloplasty. The age at initial treatment was reduced from 5.5 months in the first cohort to 2 months in the two subsequent two cohorts and the rate of successful closed reduction increased from 88.7 to 98.9 and 95.6%, respectively. There was a statistically significant improvement in six out of seven parameters with sonographic hip screening; only the rate of secondary acetabuloplasty did not improve significantly. Compared to the era before the institution of a sonographic hip screening programme according to the Graf-method in Austria in 1992, ultrasound screening based-treatment of decentered hip joints has become safer, shorter and simpler: "safer" means lower rate of AVN, "shorter" means less treatment time due to earlier onset and "simpler" means that the devices are now less invasive and highly standardized.

  3. The Fate of the Iliopsoas Muscle in Long-term Follow-up After Open Reduction With a Medial Approach in Developmental Dysplasia of the Hip. Part 2: Isokinetic Muscle Strength Evaluation.

    Science.gov (United States)

    Yilmaz, Serdar; Aksahin, Ertugrul; Ersoz, Murat; Bicimoglu, Ali

    2017-09-01

    The impact on long-term weakness of hip flexion of complete iliopsoas tenotomy during open reduction of developmental hip dysplasia with a medial approach has not yet been fully clarified. The purpose of this study was to investigate the isokinetic muscle strength (IMS) of hip flexor and extensor muscles in these patients and also to analyze the effect of spontaneous reattachment of the iliopsoas muscle on IMS measurements. The study included 20 patients. Earlier magnetic resonance imaging examination of all the patients revealed spontaneous reattachment of the iliopsoas in 18 (90%) patients. IMS measurements were performed at 60 and 150 degrees/s. The peak torque, total work (TW), average power (AP), work fatigue, and agonist to antagonist muscle ratio of the operated and nonoperated hips were recorded separately for flexors and extensors. The effect of iliopsoas reattachment on IMS was also evaluated. The mean follow-up period was 16.65±2.16 (13 to 20) years. Total work (P=0.013) and average power (P=0.009) of the flexor muscles and work fatigue of the extensor muscles (P=0.030) of the operated hip were significantly decreased when compared with the nonoperated hips at 150 degrees/s. There was no significant difference between the flexor muscles of the operated and nonoperated hips (Phips. Flexor muscle strength was decreased in the operated hip against low resistance in long-term follow-up after iliopsoas tenotomy. This may reflect that hip muscle strength was decreased after prolonged activities such as sports. However, in forceful activities flexor muscle strength was retained due to iliopsoas reattachment. On the basis of this study we thought that spontaneous reattachment of the iliopsoas tendon substantially preserves muscle strength. Nonetheless possible efforts should be made to surgically reattach the psoas tendon to preserve strength of the muscle. Therapeutic level IV.

  4. Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Oh, Jung Seok; Ahn Kook Jin; Kim, Jee Young; Lee, Sun Jin; Park, Jeong Mi [Catholic University Yeouido St. Mary' s Hospital, College of Medicine, Seoul (Korea, Republic of)

    2010-06-15

    Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome

  5. The correlation between Salter's criteria for avascular necrosis of the femoral head and Kalamchi's prognostic classification following the treatment of developmental dysplasia of the hip.

    Science.gov (United States)

    Tsukagoshi, Y; Kamegaya, M; Kamada, H; Saisu, T; Morita, M; Kakizaki, J; Tomaru, Y; Yamazaki, M

    2017-08-01

    The aim of this study was to evaluate the correlation between Salter's criteria and Kalamchi's classification of avascular necrosis in patients treated for developmental dysphasia of the hip (DDH). The study involved a retrospective analysis of 123 patients (123 hips) with DDH treated by operative and non-operative reduction before the age of two years, with a minimum follow-up of ten years. Salter's criteria (S1 to S4) were determined from radiographs obtained at one to two years post-reduction, whilst the Kalamchi grade was determined from radiographs obtained at ten or more years of age. Early post-reduction radiographs were also used to evaluate the centre-head distance discrepancy (CHDD) and the occurrence of a dome-shaped deformity of the proximal femoral metaphysis (D-shaped metaphysis). The prognosis was described as good (Kalamchi grade K0 or KI), fair (Kalamchi grade KII) or poor (Kalamchi grade KIII or KIV) for analysis and correlation with the early Salter criteria, CHDD and D-shaped metaphysis. S1 and S2 criteria were predictive of a poor prognosis. The outcome following S3, S4 and S3 + S4 varied; 18 (40%) had a good prognosis, 17 (38%) a fair prognosis and ten (22%) a poor prognosis. A CHDD ≥ 10% and a D-shaped metaphysis were also predictive of a poor prognosis. The Salter criteria were predictive of the Kalamchi grade of avascular necrosis in patients with DDH aged ten or more years after reduction of the hip. Cite this article: Bone Joint J 2017;99-B:1115-20. ©2017 The British Editorial Society of Bone & Joint Surgery.

  6. Three remarks on Powers' theorem about irreducible fields fulfilling CAR

    International Nuclear Information System (INIS)

    Baumann, K.

    1986-01-01

    First it is shown that within a relativistic Fermi field theory, a bound parallelPsi/sub k/( f,t)parallel 2 already implies canonical anticommutation relations (CAR). Then under Powers' assumptions a linear, first-order differential equation for the fields psi/sub k/(x,t) is derived. This shows that in the set of generalized free fields fulfilling CAR only the free fields are irreducible at time zero. Finally Fermi fields in two space-time dimensions are considered. It is shown that only four-fermion interaction might be compatible with CAR and a bound on the coupling strength is derived

  7. Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement

    Energy Technology Data Exchange (ETDEWEB)

    Karam, Adib R.; Birjawi, Ghina A.; Khoury, Nabil J. [American University of Beirut Medical Center, Department of Diagnostic Radiology, Beirut (Lebanon); Saghieh, Said [American University of Beirut Medical Center, Department of Orthopedic Surgery, Beirut (Lebanon); Tawil, Ayman [American University of Beirut Medical Center, Department of Pathology, Beirut (Lebanon)

    2008-12-15

    Dysplasia epiphysealis hemimelica (or Trevor's disease) is a rare developmental bone dysplasia characterized by benign osteocartilaginous overgrowth involving one or multiple epiphyses, usually of a single lower extremity. It is classified as localized form, classical form (most common), and generalized form. In this report we describe a case of generalized form of dysplasia epiphysealis hemimelica with involvement of the contralateral sacroiliac joint, which is an extremely rare presentation. (orig.)

  8. Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia.

    Science.gov (United States)

    Chikkannaiah, Panduranga; Nagaraju, Smitha; Kangle, Rajit; Gosavi, Mansi

    2015-01-01

    Ectodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-linked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia.

  9. Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement

    International Nuclear Information System (INIS)

    Karam, Adib R.; Birjawi, Ghina A.; Khoury, Nabil J.; Saghieh, Said; Tawil, Ayman

    2008-01-01

    Dysplasia epiphysealis hemimelica (or Trevor's disease) is a rare developmental bone dysplasia characterized by benign osteocartilaginous overgrowth involving one or multiple epiphyses, usually of a single lower extremity. It is classified as localized form, classical form (most common), and generalized form. In this report we describe a case of generalized form of dysplasia epiphysealis hemimelica with involvement of the contralateral sacroiliac joint, which is an extremely rare presentation. (orig.)

  10. The Fate of Iliopsoas Muscle in the Long-term Follow-up After Open Reduction of Developmental Dysplasia of the Hip by Medial Approach. Part 1: MRI Evaluation.

    Science.gov (United States)

    Yilmaz, Serdar; Aksahin, Ertugrul; Duran, Semra; Bicimoglu, Ali

    2017-09-01

    There has been little information about the long-term status of the iliopsoas, which is the main flexor of the hip, after iliopsoas tenotomy in the treatment of developmental dysplasia of the hip (DDH). The aim of this study was to assess the status of the iliopsoas muscle and other flexors and extensors of the hip in long-term follow-up with magnetic resonance imaging after complete iliopsoas tenotomy in patients with unilateral DDH treated with open reduction with a medial approach. The study included 20 patients who underwent open reduction with a medial approach for unilateral DDH and had long-term follow-up. Magnetic resonance imaging assessment of iliopsoas, rectus femoris, tensor fasia lata, sartorius, and gluteus maximus muscles was applied and the muscles of the hip that was operated on were compared with the unoperated hip. In addition, the iliopsoas muscle was examined for reattachment and the effect of reattachment was evaluated. The mean age at the time of operation was 10.53±3.61 months (range, 5 to 18 mo), and mean follow-up was 16.65±2.16 years (range, 13 to 20 y). Spontaneous reattachment of the iliopsoas was observed in 18 patients (90%), either in the lesser trochanter (65%) or the superior part of it (25%). There was no significant difference between the hips that were operated on and those that were not with regard to the mean cross-sectional areas (CSA) of the tensor fascia lata, rectus femoris, sartorius, and gluteus maximus muscles. The CSA of the tensor fascia lata, rectus femoris, sartorius, and gluteus maximus muscles showed no significant difference (P>0.05); however, CSA of iliopsoas muscle was significantly reduced in the operated hip (P<0.001). Although the iliopsoas tendon was atrophied after complete iliopsoas tenotomy, it was reattached in 90% of the patients spontaneously in long-term follow-up. There was no statistically significant compensatory hypertrophy in any muscles in response to iliopsoas atrophy. Level IV-Therapeutic.

  11. Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

    Science.gov (United States)

    Nkrumah, F K

    1971-03-01

    A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.

  12. Gracile bone dysplasias

    International Nuclear Information System (INIS)

    Kozlowski, Kazimierz; Masel, John; Sillence, David O.; Arbuckle, Susan; Juttnerova, Vera

    2002-01-01

    Gracile bone dysplasias constitute a group of disorders characterised by extremely slender bones with or without fractures. We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is uncertain. Exact diagnosis of a gracile bone dysplasia is important for genetic counselling and medico-legal reasons. (orig.)

  13. Ectodermal dysplasia (ED) syndrome.

    Science.gov (United States)

    Chee, Siew-Yin; Wanga, Chung-Hsing; Lina, Wei-De; Tsaia, Fuu-Jen

    2014-01-01

    Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, abnormal or missing teeth, and an inability to sweat due to lack of sweat glands. One such case report of ectodermal dysplasia is presented here.

  14. Gracile bone dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, Kazimierz [Department of Medical Imaging, The Children' s Hospital at Westmead, Locked Bag 4001, Westmead 2145, NSW (Australia); Masel, John [Department of Radiology, Royal Children' s Hospital, Brisbane (Australia); Sillence, David O. [Department of Paediatrics and Child Health, The University of Sydney (Australia); Arbuckle, Susan [Department of Anatomical Pathology, The Children' s Hospital at Westmead, NSW (Australia); Juttnerova, Vera [Oddeleni Lekarske Genetiky, Hradec Kralove (Czech Republic)

    2002-09-01

    Gracile bone dysplasias constitute a group of disorders characterised by extremely slender bones with or without fractures. We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is uncertain. Exact diagnosis of a gracile bone dysplasia is important for genetic counselling and medico-legal reasons. (orig.)

  15. Mandibulo-acral dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Hoeffel, J.C.; Mainard, L. [Dept. of Radiology, Children' s Hospital, Vandoeuvre (France); Chastagner, P. [Dept. of Medicine, Children' s Hospital, Vandoeuvre (France); Hoeffel, C.C. [UFR Faculte de Medecine Cochin, Paris (France)

    2000-11-01

    We report on a 7 year-old-girl with mandibulo-acral dysplasia. When she was 3 years of age it mimicked scleroderma because of skin atrophy and later on a Hutchinson-Gilford progeria syndrome (HGP). Acro-mandibular dysplasia was diagnosed because of facial hypoplasia and mandibular hypoplasia. The bilateral proximal mid-humeral notch seen in this case is unusual. (orig.)

  16. Quasiaverages, symmetry breaking and irreducible Green functions method

    Directory of Open Access Journals (Sweden)

    A.L.Kuzemsky

    2010-01-01

    Full Text Available The development and applications of the method of quasiaverages to quantum statistical physics and to quantum solid state theory and, in particular, to quantum theory of magnetism, were considered. It was shown that the role of symmetry (and the breaking of symmetries in combination with the degeneracy of the system was reanalyzed and essentially clarified within the framework of the method of quasiaverages. The problem of finding the ferromagnetic, antiferromagnetic and superconducting "symmetry broken" solutions of the correlated lattice fermion models was discussed within the irreducible Green functions method. A unified scheme for the construction of generalized mean fields (elastic scattering corrections and self-energy (inelastic scattering in terms of the equations of motion and Dyson equation was generalized in order to include the "source fields". This approach complements previous studies of microscopic theory of antiferromagnetism and clarifies the concepts of Neel sublattices for localized and itinerant antiferromagnetism and "spin-aligning fields" of correlated lattice fermions.

  17. On irreducible representations of the ultrahyperbolic BMS group

    International Nuclear Information System (INIS)

    McCarthy, Patrick J.; Melas, Evangelos

    2003-01-01

    The ordinary Bondi-Metzner-Sachs (BMS) group B is the common asymptotic symmetry group of all asymptotically flat Lorentzian space-times. As such, B is the best candidate for the universal symmetry group of General Relativity. However, in studying quantum gravity, space-times with signatures other than the usual Lorentzian one, and complex space-times, are frequently considered. Generalisations of B appropriate to these other signatures have been defined earlier. Here, the generalisation B(2,2) appropriate to the ultrahyperbolic signature (+,+,-,-) is described in detail, and the irreducible unitary representations (IRs) of B(2,2) are analysed. It is proved that all induced IRs of B(2,2) arise from IRs of compact 'little groups'. These little groups, which are closed subgroups of K=SO(2)xSO(2), are classified here in detail, with particular attention paid to those of infinite order

  18. Construction of the irreducibles of B(2, 2)

    International Nuclear Information System (INIS)

    Melas, Evangelos

    2006-01-01

    The ordinary Bondi-Metzner-Sachs (BMS) group B is the common asymptotic symmetry group of all radiating, asymptotically flat, Lorentzian spacetimes. As such, B is the best candidate for the universal symmetry group of general relativity. However, in studying quantum gravity, spacetimes with signatures other than the usual Lorentzian one and complex spacetimes are frequently considered. Generalizations of B appropriate to these other signatures have been defined earlier. In particular, the generalization B(2, 2) appropriate to the ultrahyperbolic signature (+, +, -, -) has been described in detail, and the study of its irreducible unitary representations (IRs) of B(2, 2) has been initiated. The infinite little groups have been given explicitly, but the finite little groups have only been partially described. This study is completed by describing in detail the finite little groups and by giving all the necessary information in order to construct the IRs of B(2, 2) in all cases

  19. A practical criterion of irreducibility of multi-loop Feynman integrals

    International Nuclear Information System (INIS)

    Baikov, P.A.

    2006-01-01

    A practical criterion for the irreducibility (with respect to integration by part identities) of a particular Feynman integral to a given set of integrals is presented. The irreducibility is shown to be related to the existence of stable (with zero gradient) points of a specially constructed polynomial

  20. Cryptorchidism as a caudal developmental field defect. A new description of cryptorchidism associated with malformations and dysplasias of the kidneys, the ureters and the spine from T10 to S5

    DEFF Research Database (Denmark)

    Cortes, Dina; Thorup, J M; Beck, Bjarne Lomholdt

    1998-01-01

    Cryptorchidism is a feature of abnormalities in the hypothalamo-pituitary-testicular axis, and almost all disorders of sexual differentiation in which a testis is present. We found cryptorchidism to be associated with malformations and dysplasias of the kidneys, the ureters and the spine from T10...... field defect. Study of cryptorchid patients exhibiting malformations or dysplasias of the kidneys, the ureters or the spine from T10 to S5 is essential in order to isolate new genetic disorders and to spot environmental factors causing cryptorchidism....

  1. Cloverleaf skull with generalised bone dysplasia

    International Nuclear Information System (INIS)

    Kozlowski, K.; Warren, P.S.; Fisher, C.C.; Royal Hospital for Women, Camperdown

    1985-01-01

    A case of cloverleaf skull with generalised bone dysplasia is reported. The authors believe that bone dysplasia associated with cloverleaf is neither identical with thanatophoric dysplasia nor achondroplasia. Until identity of thanatophoric dysplasia and cloverleaf skull with generalised bone dysplasia is proved the diseases should be looked upon as separate entities and the wording ''thanatophoric dysplasia with cloverleaf skull'' should be abolished. (orig.)

  2. Upper-extremity phocomelia reexamined: a longitudinal dysplasia.

    Science.gov (United States)

    Goldfarb, Charles A; Manske, Paul R; Busa, Riccardo; Mills, Janith; Carter, Peter; Ezaki, Marybeth

    2005-12-01

    focal deficiency, were common in those patients. Eleven limbs in ten patients were identified as having severe combined dysplasia, which was type A in seven of them and type B in four. Four patients with severe combined dysplasia had congenital cardiac anomalies, and four had associated musculoskeletal abnormalities. Three of the four patients with the type-B disorder had a contralateral ulnar longitudinal dysplasia. We propose that cases previously classified as upper-extremity phocomelia represent a spectrum of severe longitudinal dysplasia, as none of the sixty extremities that we studied demonstrated a true intercalary deficiency. These findings have both developmental and genetic implications.

  3. Genetics Home Reference: thanatophoric dysplasia

    Science.gov (United States)

    ... thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010 Jan;152A( ... of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ...

  4. TREATMENT OF HIP DYSPLASIA

    Directory of Open Access Journals (Sweden)

    Iulian ICLEANU

    2015-11-01

    Full Text Available In this thesis, our purpose is to show that using physiotherapy on patients with hip dysplasia from the very beginning, in the first months of life, helps treating them faster. Common literature proposes to use physiotherapy on patients with hip dysplasia either after their recovery or in the terminal phase of recovery, claiming that any earlier intervention will prolong the hip recovery. The effects of hip dysplasia reflect over the whole musculoskeletal system, while it hinders the knees (genu valgum, the ankles (ankle valgus, calcaneal valgus and the spine (scoliosis especially at the lumbar level. The most spectacular are at the hip level, that is why we made an analytical evaluation only for this joint. To show the importance of physiotherapy for children with hip dysplasia we started from the hypothesis: untimely treatment for children with hip dysplasia has improved results in functional recovery and in obtaining a better stability, without the necessity of orthopedics or surgical interventions. The research methods used in this study are: the observation method, the bibliographic study method, the experimental method, the graphics method and the statistical mathematical method to process the data and to represent the results graphically. In the end, the results obtained are significantly different from the initial evaluations and we came to the conclusion that starting an untimely analytical kinetic treatment and globally personalizing it to every patient improves stability and biomechanical parameters for the hip.

  5. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

    NARCIS (Netherlands)

    Szafranski, P.; Gambin, T.; Dharmadhikari, A.V.; Akdemir, K.C.; Jhangiani, S.N.; Schuette, J.; Godiwala, N.; Yatsenko, S.A.; Sebastian, J.; Madan-Khetarpal, S.; Surti, U.; Abellar, R.G.; Bateman, D.A.; Wilson, A.L.; Markham, M.H.; Slamon, J.; Santos-Simarro, F.; Palomares, M.; Nevado, J.; Lapunzina, P.; Chung, B.H.; Wong, W.L.; Chu, Y.W.; Mok, G.T.; Kerem, E.; Reiter, J.; Ambalavanan, N.; Anderson, S.A.; Kelly, D.R.; Shieh, J.; Rosenthal, T.C.; Scheible, K.; Steiner, L.; Iqbal, M.A.; McKinnon, M.L.; Hamilton, S.J.; Schlade-Bartusiak, K.; English, D.; Hendson, G.; Roeder, E.R.; DeNapoli, T.S.; Littlejohn, R.O.; Wolff, D.J.; Wagner, C.L.; Yeung, A.; Francis, D.; Fiorino, E.K.; Edelman, M.; Fox, J.; Hayes, D.A.; Janssens, S.; Baere, E. De; Menten, B.; Loccufier, A.; Vanwalleghem, L.; Moerman, P.; Sznajer, Y.; Lay, A.S.; Kussmann, J.L.; Chawla, J.; Payton, D.J.; Phillips, G.E.; Brosens, E.; Tibboel, D.; Klein, A.; Maystadt, I.; Fisher, R.; Sebire, N.; Male, A.; Chopra, M.; Pinner, J.; Malcolm, G.; Peters, G.; Arbuckle, S.; Lees, M.; Mead, Z.; Quarrell, O.; Sayers, R.; Owens, M.; Shaw-Smith, C.; Lioy, J.; McKay, E.; Leeuw, N. de; Feenstra, I.; Spruijt, L.; Elmslie, F.; Thiruchelvam, T.; Bacino, C.A.; Langston, C.; Lupski, J.R.; Sen, P.; Popek, E.; Stankiewicz, P.

    2016-01-01

    Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes

  6. Prenatal diagnosis of boomerang dysplasia.

    Science.gov (United States)

    Wessels, Marja W; Den Hollander, Nicolette S; De Krijger, Ronald R; Bonifé, Luisa; Superti-Furga, Andrea; Nikkels, Peter G; Willems, Patrick J

    2003-10-01

    Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound. Copyright 2003 Wiley-Liss, Inc.

  7. Meyer's dysplasia epiphysealis

    International Nuclear Information System (INIS)

    Toro P, Alvaro de Jesus; Lopez C, Meisser A

    2005-01-01

    The skeletal dysplasias are a group of heterogeneous conditions since the clinical and genetic point of view, that to date they are about 200 different disorders. They have as common denominator an inconvenience of the normal process of growth and development of the bony weaving and their cartilaginous precursors. In this article the case of an adolescent of 16 years is presented with Meyer's dysplasia epiphysealis whose diagnostic was delayed and that as opposed to the cases reported in the literature required surgical treatment due to the persistent symptoms, and the literature is reviewed

  8. Quantum channels irreducibly covariant with respect to the finite group generated by the Weyl operators

    Science.gov (United States)

    Siudzińska, Katarzyna; Chruściński, Dariusz

    2018-03-01

    In matrix algebras, we introduce a class of linear maps that are irreducibly covariant with respect to the finite group generated by the Weyl operators. In particular, we analyze the irreducibly covariant quantum channels, that is, the completely positive and trace-preserving linear maps. Interestingly, imposing additional symmetries leads to the so-called generalized Pauli channels, which were recently considered in the context of the non-Markovian quantum evolution. Finally, we provide examples of irreducibly covariant positive but not necessarily completely positive maps.

  9. Hip Dysplasia: Clinical Signs and Physical Examination Findings.

    Science.gov (United States)

    Syrcle, Jason

    2017-07-01

    Hip dysplasia is a common developmental disorder of the dog, consisting of varying degrees of hip laxity, progressive remodeling of the structures of the hip, and subsequent development of osteoarthritis. It is a juvenile-onset condition, with clinical signs often first evident at 4 to 12 months of age. A tentative diagnosis of hip dysplasia can be made based on signalment, history, and physical examination findings. The Ortolani test is a valuable tool for identifying juvenile dogs affected with this condition. Further diagnostics can then be prioritized, contributing to prompt diagnosis and appropriate treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. A case of Mondini dysplasia with recurrent Streptococcus pneumoniae meningitis.

    Science.gov (United States)

    Yilmaz Ciftdoğan, Dilek; Bayram, Nuri; Ozdemir, Yasemin; Bayraktaroğlu, Selen; Vardar, Fadil

    2009-12-01

    Mondini's dysplasia is a developmental anomaly of the middle ear characterized by cochlear malformation with dilation of the vestibular aquaduct, vestibule, and ampullar ends of the semicircular canals. These deformities may result in a connection between subarachnoid space and the middle ear resulting in recurrent episodes of meningitis. Additionally, it is commonly associated with hearing impairment. We describe here a boy with recurrent meningitis and unilateral sensorineural hearing loss. Mondini dysplasia was demonstrated with computed tomographic scans of the temporal bones in the search for pathogenesis of recurrent meningitis.

  11. Dental Management of Ectodermal Dysplasia: Two Clinical Case Reports

    Directory of Open Access Journals (Sweden)

    Somayeh Hekmatfar

    2012-06-01

    Full Text Available Ectodermal dysplasia is a hereditary disorder associated with abnormal development of embryonic ectodermally-derived organs including teeth, nails, hair and sweat glands. Hypodontia of the primary and permanent dentition is the most common oral finding. Therefore, affected patients need dental prosthetic treatments during their developmental years. This report presents two cases of children affected by ectodermal dysplasia with anodontia. Oral rehabilitation was accomplished with removable acrylic prostheses. Treatment had major impacts on self-esteem, masticatory function, speech and facial esthetic.

  12. The finite - dimensional star and grade star irreducible representation of SU(n/1)

    International Nuclear Information System (INIS)

    Han Qi-zhi.

    1981-01-01

    We derive the conditions of star and grade star representations of SU(n/1) and give some examples of them. We also give a brief review of the finite - dimensional irreducible representations of SU(n/1). (author)

  13. Quotients of irreducible N=2 superconformal coset theories by discrete symmetries

    International Nuclear Information System (INIS)

    Bailin, D.; Love, A.

    1990-01-01

    The spectrum of massless states is studied for the irreducible N=2 superconformal coset theories when these theories are quotiented by discrete symmetries, including the effect of embedding the discrete symmetries in the gauge group. (orig.)

  14. Neural Mechanisms of Updating under Reducible and Irreducible Uncertainty.

    Science.gov (United States)

    Kobayashi, Kenji; Hsu, Ming

    2017-07-19

    Adaptive decision making depends on an agent's ability to use environmental signals to reduce uncertainty. However, because of multiple types of uncertainty, agents must take into account not only the extent to which signals violate prior expectations but also whether uncertainty can be reduced in the first place. Here we studied how human brains of both sexes respond to signals under conditions of reducible and irreducible uncertainty. We show behaviorally that subjects' value updating was sensitive to the reducibility of uncertainty, and could be quantitatively characterized by a Bayesian model where agents ignore expectancy violations that do not update beliefs or values. Using fMRI, we found that neural processes underlying belief and value updating were separable from responses to expectancy violation, and that reducibility of uncertainty in value modulated connections from belief-updating regions to value-updating regions. Together, these results provide insights into how agents use knowledge about uncertainty to make better decisions while ignoring mere expectancy violation. SIGNIFICANCE STATEMENT To make good decisions, a person must observe the environment carefully, and use these observations to reduce uncertainty about consequences of actions. Importantly, uncertainty should not be reduced purely based on how surprising the observations are, particularly because in some cases uncertainty is not reducible. Here we show that the human brain indeed reduces uncertainty adaptively by taking into account the nature of uncertainty and ignoring mere surprise. Behaviorally, we show that human subjects reduce uncertainty in a quasioptimal Bayesian manner. Using fMRI, we characterize brain regions that may be involved in uncertainty reduction, as well as the network they constitute, and dissociate them from brain regions that respond to mere surprise. Copyright © 2017 the authors 0270-6474/17/376972-11$15.00/0.

  15. Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

    Energy Technology Data Exchange (ETDEWEB)

    Han, Jin Woo; Kwon, Hyuk Rok; Lee, Jin Ho; Park, In Woo [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Kangnung National University, Kangnung (Korea, Republic of)

    2000-06-15

    Fibrous dysplasia is believed to be a hamartomatous developmental lesion of unknown origin. This disease is divided into monostotic and polyostotic fibrous dysplasia. Polyostotic type can be divided into craniofacial type, Lichtenstein-Jaffe type, and McCune-Albright syndrome. In this case, a 31-year-old female presented spontaneous loss of right mandibular teeth before 5 years and has shown continuous expansion of right mandibular alveolus. Through the radiographic view, the coarse pattern of the mixed radiopaque-lucent lesion was seen on the right mandibular body, and there was diffuse pattern of the mixed radiopaque-lucent lesion with ill-defined margin in the left mandibular body. In the right calvarium, the lesion had cotton-wool appearance. Partial excision for contouring, multiple extraction, and alveoloplasty were accomplished under general anesthesia for supportive treatment. Finally we could conclude this case was polyostotic fibrous dysplasia of cranio-maxillofacial area based on the clinical, radiologic finding, and histopathologic examination.

  16. Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

    International Nuclear Information System (INIS)

    Han, Jin Woo; Kwon, Hyuk Rok; Lee, Jin Ho; Park, In Woo

    2000-01-01

    Fibrous dysplasia is believed to be a hamartomatous developmental lesion of unknown origin. This disease is divided into monostotic and polyostotic fibrous dysplasia. Polyostotic type can be divided into craniofacial type, Lichtenstein-Jaffe type, and McCune-Albright syndrome. In this case, a 31-year-old female presented spontaneous loss of right mandibular teeth before 5 years and has shown continuous expansion of right mandibular alveolus. Through the radiographic view, the coarse pattern of the mixed radiopaque-lucent lesion was seen on the right mandibular body, and there was diffuse pattern of the mixed radiopaque-lucent lesion with ill-defined margin in the left mandibular body. In the right calvarium, the lesion had cotton-wool appearance. Partial excision for contouring, multiple extraction, and alveoloplasty were accomplished under general anesthesia for supportive treatment. Finally we could conclude this case was polyostotic fibrous dysplasia of cranio-maxillofacial area based on the clinical, radiologic finding, and histopathologic examination.

  17. Ectodermal Dysplasia: A Case Report

    Science.gov (United States)

    2011-01-01

    Ectodermal dysplasia is a hereditary disease characterized by dysplasia of tissues of ectodermal origin. The incidence of ectodermal dysplasia is rare (1 in 100,000 birth). This case report discusses the features, classification and prosthetic treatment plan (upper partial denture and lower complete denture for upper partial and lower complete edentulous arches respectively). This treatment plan would be able to provide psychological and functional boost to the sufferer. PMID:27678241

  18. Familial ectodermal dysplasia: a peers' agony.

    Science.gov (United States)

    Hegde, Karthik; Kashyap, Roopashri Rajesh; Nair, Gopakumar; Nair, Preeti P

    2013-07-23

    Ectodermal dysplasias include a various group of inherited disorders which share primary defect in the development of two or more tissues of embryonic ectodermal origin. Though there are many subtypes, ectodermal dysplasias are mainly hidrotic ectodermal dysplasia and hypohidrotic ectodermal dysplasia, among which the most common variety is X linked hypohidrotic ectodermal dysplasia. We report a rare case of X linked hypohidrotic ectodermal dysplasia occurring in a family with various skin, hair and oral abnormalities.

  19. Cloverleaf skull with generalised bone dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, K.; Warren, P.S.; Fisher, C.C.

    1985-09-01

    A case of cloverleaf skull with generalised bone dysplasia is reported. The authors believe that bone dysplasia associated with cloverleaf is neither identical with thanatophoric dysplasia nor achondroplasia. Until identity of thanatophoric dysplasia and cloverleaf skull with generalised bone dysplasia is proved the diseases should be looked upon as separate entities and the wording ''thanatophoric dysplasia with cloverleaf skull'' should be abolished.

  20. Craniofacial fibrous dysplasia - A review of current management techniques

    Directory of Open Access Journals (Sweden)

    Yadavalli Guruprasad

    2012-01-01

    Full Text Available Fibrous dysplasia is a pathologic condition of bone of unknown etiology with no apparent familial, hereditary or congenital basis. Lichtenstein first coined the term in 1938 and in 1942 he and Jaffe separated it from other fibro-osseous lesions. It is a bone tumor that, although benign, has the potential to cause significant cosmetic and functional disturbance, particularly in the craniofacial skeleton. Its management poses significant challenges to the surgeon. Craniofacial fibrous dysplasia is 1 of 3 types of fibrous dysplasia that can affect the bones of the craniofacial complex, including the mandible and maxilla. Fibrous dysplasia is a skeletal developmental disorder of the bone-forming mesenchyme that manifests as a defect in osteoblastic differentiation and maturation. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. Fibrous dysplasia represents about 2, 5% of all bone tumors and over 7% of all benign tumours. Over the years, we have gained a better understanding of its etiology, clinical behavior, and both surgical and non-surgical treatments.

  1. Case report of imaging analysis of the dysplasia epiphysealis hemimelic (Trevor's disease)

    International Nuclear Information System (INIS)

    Shu, Jang Ho; Cho, Kil Ho

    2013-01-01

    Trevor's disease, also known as dysplasia epiphysealis hemimelica, is a rare developmental disorder presented with epiphyseal overgrowth involving one or multiple epiphyses. Here we report the radiologic findings of two cases of dysplasia epiphysealis hemimelica in a 4-year-old boy in the knee without symptom and a 10-year-old boy in the ankle with pain. The former was observed for eight years and the latter was treated with surgical resection.

  2. Case report of imaging analysis of the dysplasia epiphysealis hemimelic (Trevor's disease)

    Energy Technology Data Exchange (ETDEWEB)

    Shu, Jang Ho; Cho, Kil Ho [Dept. of Diagnostic Radiology, College of Medicine, Yeungnam University, Daegu (Korea, Republic of)

    2013-08-15

    Trevor's disease, also known as dysplasia epiphysealis hemimelica, is a rare developmental disorder presented with epiphyseal overgrowth involving one or multiple epiphyses. Here we report the radiologic findings of two cases of dysplasia epiphysealis hemimelica in a 4-year-old boy in the knee without symptom and a 10-year-old boy in the ankle with pain. The former was observed for eight years and the latter was treated with surgical resection.

  3. Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features

    Energy Technology Data Exchange (ETDEWEB)

    Miller, S.F. [Dept. of Radiology, Children' s Hospital of the King' s Daughters, Norfolk (United States); Proud, V.K. [Dept. of Genetics, Children' s Hospital of the King' s Daughters, Norfolk (United States); Werner, A.L. [Dept. of Pathology, Children' s Hospital of the King' s Daughters, Norfolk (United States); Field, F.M.; Wilcox, W.F.; Lachman, R.S.; Rimoin, D.L. [International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles (United States)

    2003-04-01

    Background: Punctate or stippled cartilaginous calcifications are associated with many conditions, including chromosomal, infectious, endocrine, and teratogenic etiologies. Some of these conditions are clinically mild, while others are lethal. Accurate diagnosis can prove instrumental in clinical management and in genetic counseling. Objective: To describe the diagnostic radiographic features seen in Pacman dysplasia, a distinct autosomal recessive, lethal skeletal dysplasia. Materials and methods: We present the fourth reported case of Pacman dysplasia and compare the findings seen in our patient with the three previously described patients. Results: Invariable and variable radiographic findings were seen in all four cases of histologically proven Pacman dysplasia. Conclusion: Pacman dysplasia presents both constant and variable diagnostic radiographic features. (orig.)

  4. Fibrous dysplasia of bone

    International Nuclear Information System (INIS)

    Kim, Kyung Soo; Lee, Sang Wook; Cho, Young Jun; Kim, Young Sook

    1983-01-01

    Fibrous dysplasia of bone is a skeletal development anomaly of unknown etiology characterized by single or multiple areas of fibrous tissue replacement of medullary cavity of one or more bones. The disease may be localized to single bone (monostotic form) or may affect multiple bones (polyostotic form). Eighteen cases of fibrous dysplasia diagnosed by roentgenlogic or histologic assessment at Chosun University Hospital, Chosun University Hospital and Kwangju Christian Hospital during recent ten tears were analyzed clinically and radiologically. The results were as follows: 1. 16 case of them had monostotic involvement, and 2 cases showed polyostotic disease, but none of our series presented Albright's syndrome. 2. The male to female ratio in this series was 10 : 8, but then 2 polyostotic forms of them were females. In age distribution, peak incidence at the time of diagnosis was in the age group of second decade (10 cases). 3. Maxilla (6 cases) and femur (4 case) were frequently involved sites in patients with monostotic lesion, whereas polyostotic lesions diffusely affected skull, pelvis, ribs and limb bones. 4. The clinical symptoms according to the extent and site of disease were very variable, which were localized painless or painful swelling, nasal obstruction, deformity of face or extremity and incidentally during routine roentgen study. 5. The chemical abnormality of blood serum was moderate degree of elevated serum alkaline phosphatase in only one patients with monostotic lesion. 6. The main radiologic findings of fibrous dysplasia were relatively well circumscribed single or multiloculated cystilike appearance, bone expansion, cortical thinning and/or erosion, bony deformity and pathologic fracture, but especially in maxilla, dense homogenous area with expanding lesion was observed in our series

  5. Recurrent Bacterial Meningitis in a Child with Mondini Dysplasia

    OpenAIRE

    Kepenekli-Kadayifci, Eda; Karaaslan, Ayşe; Atıcı, Serkan; Binnetoğlu, Adem; Sarı, Murat; Soysal, Ahmet; Altınkanat, Gülşen; Bakır, Mustafa

    2014-01-01

    Mondini dysplasia, also known as Mondini malformation, is a developmental abnormality of the inner and middle ears that can cause hearing loss, cerebrospinal fluid (CSF) leakage, and recurrent bacterial meningitis (RBM), which is defined as two or more episodes of meningitis separated by a period of convalescence and the complete resolution of all signs and symptoms. An accurate diagnosis of the underlying pathology is crucial to prevent further episodes from occurring. Herein, we present a...

  6. Keratoprosthesis in Ectodermal Dysplasia.

    Science.gov (United States)

    Wozniak, Rachel A F; Gonzalez, Mithra; Aquavella, James V

    2016-07-01

    To describe the complex surgical management and novel medical approach for a keratoprosthesis (KPro Boston type I) in a monocular, 73-year-old patient with ectodermal dysplasia and chronic, noninfectious corneal necrosis. Best-corrected visual acuity (BCVA) was measured with Snellen letters. Surgical intervention included an amniotic membrane graft, complete replacement of the KPro, conjunctival flap graft, corneal donor tissue grafts combined with inferior rectus muscle advancement, periosteal tissue graft, tarso-conjunctival flap construction, and symblepharolysis. Infliximab was used as a medical adjunctive therapy. Initial KPro placement provided a BCVA of 20/25 and long-term stability. Subsequent chronic melting at the optic border necessitated numerous surgeries to prevent extrusion and failure. Ultimate fistulization was addressed with the formation of a surgical pocket. The addition of infliximab promoted ocular surface stability, and the patient has maintained a BCVA of 20/80. Ectodermal dysplasia can result in eyelid and corneal abnormalities, requiring a KPro for visual restoration. In the setting of chronic, sterile corneal melt, novel surgical approaches and the off-label use of infliximab allowed for visual rehabilitation.

  7. Displasia broncopulmonar Bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Luciana F. Velloso Monte

    2005-04-01

    Full Text Available OBJETIVO: Apresentar uma ampla revisão da literatura sobre displasia broncopulmonar, abordando novas definições, fisiopatologia, prevenção, tratamento, prognóstico e evolução. FONTE DOS DADOS: Foram selecionados os artigos mais relevantes sobre o tema, desde a sua descrição inicial, em 1967, pesquisados na MEDLINE. SÍNTESE DOS DADOS: A displasia broncopulmonar é considerada uma das principais causas de doença pulmonar crônica em lactentes. Está associada a hospitalizações freqüentes e prolongadas, especialmente por doenças pulmonares, altos índices de mortalidade e alterações no desenvolvimento neuropsicomotor e no crescimento pôndero-estatural. A patogênese é complexa e influenciada principalmente por prematuridade, infecção, oxigênio suplementar e ventilação mecânica. A prevenção envolve o acompanhamento pré-natal adequado, a prevenção do parto prematuro, o uso pré-natal do corticosteróide, a terapia de reposição de surfactante e o uso de estratégias ventilatórias "protetoras". O tratamento do paciente com displasia broncopulmonar demanda uma equipe multidisciplinar. Quando indicada, a suplementação de oxigênio é de extrema importância. Apesar de maior risco de morbimortalidade nos primeiros anos de vida, a evolução em longo prazo é favorável na maioria das vezes. CONCLUSÕES: A displasia broncopulmonar vem sendo profundamente estudada na tentativa de identificação das suas causas e possibilidades de prevenção e de tratamento. Ainda existem controvérsias quanto a esses assuntos e também em relação ao prognóstico desses pacientes, especialmente quando se trata da evolução tardia da "nova" displasia broncopulmonar.OBJECTIVE: To present a wide-ranging review of the literature on bronchopulmonary dysplasia, covering new definitions, pathophysiology, prevention, treatment, prognosis and progression. SOURCES OF DATA: The most relevant articles published on the subject since it was first

  8. Closed-form irreducible differential formulations of the Wilson renormalization group

    International Nuclear Information System (INIS)

    Vvedensky, D.D.; Chang, T.S.; Nicoll, J.F.

    1983-01-01

    We present a detailed derivation of the one-particle--irreducible (1PI) differential renormalization-group generators originally developed by Nicoll and Chang and by Chang, Nicoll, and Young. We illustrate the machinery of the irreducible formulation by calculating to order epsilon 2 the characteristic time exponent z for the time-dependent Ginsburg-Landau model in the cases of conserved and nonconserved order parameter. We then calculate both z and eta to order epsilon 2 by applying to the 1PI generator an extension of the operator expansion technique developed by Wegner for the Wilson smooth-cutoff renormalization-group generator

  9. Fibrous dysplasia and cherubism

    Directory of Open Access Journals (Sweden)

    Surajit Bhattacharya

    2015-01-01

    Full Text Available Fibrous dysplasia (FD is a non-malignant fibro-osseous bony lesion in which the involved bone/bones gradually get converted into expanding cystic and fibrous tissue. The underlying defect in FD is post-natal mutation of GNAS1 gene, which leads to the proliferation and activation of undifferentiated mesenchymal cells arresting the bone development in woven phase and ultimately converting them into fibro-osseous cystic tissue. Cherubism is a hereditary form of fibrous dysplasia in which the causative factor is transmission of autosomal dominant SH3BP2 gene mutation. The disease may present in two distinct forms, a less severe and limited monostotic form, and a more aggressive and more widespread polyostotic form. Polyostotic form may be associated with various endocrine abnormalities, which require active management apart from the management of FD. Management of FD is not free from controversies. While total surgical excision of the involved area and reconstruction using newer micro-vascular technique is the only definitive treatment available from the curative point of view, but this can be only offered to monostotic and very few polyostotic lesions. In polyostotic varieties on many occasions these radical surgeries are very deforming in these slow growing lesions and so their indication is highly debated. The treatment of cranio-facial fibrous dysplasia should be highly individualized, depending on the fact that the clinical behavior of lesion is variable at various ages and in individual patients. A more conservative approach in the form of aesthetic recontouring of deformed bone, orthodontic occlusal correction, and watchful expectancy may be the more accepted form of treatment in young patients. Newer generation real-time imaging guidance during recontouring surgery adds to accuracy and safety of these procedures. Regular clinical and radiological follow up is required to watch for quiescence, regression or reactivation of the disease process

  10. Evaluation of Ectodermal Dysplasia

    Directory of Open Access Journals (Sweden)

    Zelal Baskan

    2006-04-01

    Full Text Available This case series report outlines possible cranio-maxillofacial deformation consequences associated with ectodermal dysplasia (ED and embryonic malformations, including dental agenesis. Also described are the oral aspects and rehabilitation. A total of 14 ED patients (7 males and 7 females, aged 5-45 years underwent clinical examination before assessment and treatment. Lateral cephalometric radiography, Steiner's analysis, and respiratory capacity tests were performed. Most of the patients had sparse or absent hair, a short face with an unusual facial concavity, a maxillary retrusion, and a relative mandible protrusion. Depending on age and orthopedic abnormalities, patients were treated with prosthodontic and orthodontic approaches or implant treatment. Therapists should take a comprehensive and multidisciplinary approach with these patients to improve their dental, masticatory, growth, and orthognathic conditions, as well as esthetic appearance.

  11. Arrhythmogenic right ventricular dysplasia

    International Nuclear Information System (INIS)

    Vignolo Puglia, W.; Freire Colla, D.; Rivara Urrutia, D.; Lujambio Grene, M.; Arbiza Bruno, T.; Oliveira, G.; Cobas Rodriguez, J.

    1997-01-01

    The arrhythmogenic right ventricular dysplasia is a condition predominantly well defined with arrhythmic events. We analyze three cases diagnosed by the group. These cases were presented as ventricular tachycardia with a morphology of left bundle branch block, presenting one of them aborted sudden death in evolution. The baseline electrocardiogram and signal averaging were abnormal in two of the three cases, like the echocardiogram. The electrophysiological study was able to induce in the three patients with sustained monomorphic ventricular tachycardia morphology of left bundle branch block. The definitive diagnosis was made by right ventriculography in two cases and magnetic resonance imaging in the other. Treatment included antiarrhythmic drugs in the three cases and the placement of an automatic defibrillator which survived a sudden death (Author)

  12. Description of the higher massless irreducible integer spins in the BRST approach

    International Nuclear Information System (INIS)

    Pashnev, A.; Tsulaya, M.

    1998-01-01

    The BRST approach is applied to the description of irreducible massless higher spins representations of the Poincare group in arbitrary dimensions. The total system of constraints in such theory includes both the first and the second class constraints. The corresponding nilpotent BRST charge contains terms up to the seventh degree in ghosts

  13. An algorithm to compute the canonical basis of an irreducible Uq(g)-module

    OpenAIRE

    de Graaf, W. A.

    2002-01-01

    An algorithm is described to compute the canonical basis of an irreducible module over a quantized enveloping algebra of a finite-dimensional semisimple Lie algebra. The algorithm works for modules that are constructed as a submodule of a tensor product of modules with known canonical bases.

  14. Fourier-Laplace transform of irreducible regular differential systems on the Riemann sphere

    International Nuclear Information System (INIS)

    Sabbah, C

    2004-01-01

    It is shown that the Fourier-Laplace transform of an irreducible regular differential system on the Riemann sphere underlies a polarizable regular twistor D-module if one considers only the part at finite distance. The associated holomorphic bundle defined away from the origin of the complex plane is therefore equipped with a natural harmonic metric having a tame behaviour near the origin

  15. Ectodermal dysplasia-skin fragility syndrome

    Directory of Open Access Journals (Sweden)

    Vijay S Adhe

    2011-01-01

    Full Text Available Ectodermal dysplasia-skin fragility (EDSF syndrome is a rare and first described inherited disorder of desmosomes. It occurs due to loss-of-function mutations in PKP1 gene resulting in poorly formed desmosomes and loss of desmosomal and epidermal integrity. We report a case of a 2-year-old Indian male child who presented with palmoplantar hyperkeratosis with fissuring, short, sparse, and easily pluckable scalp hair, nail dystrophy, and multiple erosions over the skin. Skin biopsy showed epidermal hyperplasia with widening of intercellular spaces. His developmental milestones were delayed but intelligence was normal. Echocardiography, X-ray chest, and electrocardiogram were normal. Very few cases of this syndrome have been reported in the literature. We consider this as the first case report from India.

  16. Genetics Home Reference: metatropic dysplasia

    Science.gov (United States)

    ... is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is ... my area? Other Names for This Condition metatropic dwarfism metatropic dysplasia type 1 Related Information How are ...

  17. Oral epithelial dysplasia classification systems

    DEFF Research Database (Denmark)

    Warnakulasuriya, S; Reibel, J; Bouquot, J

    2008-01-01

    At a workshop coordinated by the WHO Collaborating Centre for Oral Cancer and Precancer in the United Kingdom issues related to potentially malignant disorders of the oral cavity were discussed by an expert group. The consensus views of the Working Group are presented in a series of papers....... In this report, we review the oral epithelial dysplasia classification systems. The three classification schemes [oral epithelial dysplasia scoring system, squamous intraepithelial neoplasia and Ljubljana classification] were presented and the Working Group recommended epithelial dysplasia grading for routine...... use. Although most oral pathologists possibly recognize and accept the criteria for grading epithelial dysplasia, firstly based on architectural features and then of cytology, there is great variability in their interpretation of the presence, degree and significance of the individual criteria...

  18. Septooptic dysplasia : a case report

    International Nuclear Information System (INIS)

    Kim, Jung Hae; Choi, Dae Seob; Lee, Chang Wook; Kim, Soon; Kim, Seung Hyeon; Lee, Sung Woo; Ha, Jung Ho; Sakong, Jung Kyu; Lee, Hyeon Kyeong

    2001-01-01

    Septooptic dysplasia is a rare anterior midline anomaly considered to be a mild form of lobar holoprosencephaly. We describe a case with unilateral optic nerve hypoplasia and the absence of a septum pellucidum

  19. Genetics Home Reference: frontonasal dysplasia

    Science.gov (United States)

    ... respective protein. As a result, the regulation of cell organization during development of the head and face is ... Craniofacial Association: A Guide to Understanding Frontonasal Dysplasia (PDF) Disease InfoSearch: ... Organization for Rare Disorders (NORD) Operation Smile Resource List ...

  20. Jansen type of spondylometaphyseal dysplasia

    International Nuclear Information System (INIS)

    Campbell, J.B.; Kozlowski, K.; Lejman, T.; Sulko, J.

    2000-01-01

    Metaphyseal dysplasia, type Jansen (JMD), is a rare skeletal dysplasia with characteristic radiographic abnormalities. Of the various types of metaphyseal dysplasia, JMD shows the most severe alteration in metaphyseal architecture. All of the long tubular bones, including those of the hands and feet, show metaphyseal irregularity with a fragmented appearance and slight widening. The adjacent physes are abnormally widened, while the epiphyses tend to be slightly enlarged, rounded but otherwise normal. The spine in infancy and childhood usually appears normal. This report describes a young girl with metaphyseal changes typical of JMD except for the hands and feet, which appeared normal. She also showed very unusual abnormalities of the spine. This appears, therefore, to represent a unique osteochondrodysplasia for which we propose the term spondylometaphyseal dysplasia, type Jansen. (orig.)

  1. Fibromuscular dysplasia of renal arteries

    International Nuclear Information System (INIS)

    Akhtar, N.; Ahmed, T.M.

    2007-01-01

    This case reports a young child having uncontrolled hypertension, resulting from bilateral renal artery stenosis due to fibromuscular dysplasia presenting with abdominal pain, headache and visual disturbance. Diagnostic features and management is discussed. (author)

  2. Focal cortical dysplasia – review

    International Nuclear Information System (INIS)

    Kabat, Joanna; Król, Przemysław

    2012-01-01

    Focal cortical dysplasia is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults. Both genetic and acquired factors are involved in the pathogenesis of cortical dysplasia. Numerous classifications of the complex structural abnormalities of focal cortical dysplasia have been proposed – from Taylor et al. in 1971 to the last modification of Palmini classification made by Blumcke in 2011. In general, three types of cortical dysplasia are recognized. Type I focal cortical dysplasia with mild symptomatic expression and late onset, is more often seen in adults, with changes present in the temporal lobe. Clinical symptoms are more severe in type II of cortical dysplasia usually seen in children. In this type, more extensive changes occur outside the temporal lobe with predilection for the frontal lobes. New type III is one of the above dysplasias with associated another principal lesion as hippocampal sclerosis, tumor, vascular malformation or acquired pathology during early life. Brain MRI imaging shows abnormalities in the majority of type II dysplasias and in only some of type I cortical dysplasias. The most common findings on MRI imaging include: focal cortical thickening or thinning, areas of focal brain atrophy, blurring of the gray-white junction, increased signal on T2- and FLAIR-weighted images in the gray and subcortical white matter often tapering toward the ventricle. On the basis of the MRI findings, it is possible to differentiate between type I and type II cortical dysplasia. A complete resection of the epileptogenic zone is required for seizure-free life. MRI imaging is very helpful to identify those patients who are likely to benefit from surgical treatment in a group of patients with drug-resistant epilepsy. However, in type I cortical dysplasia, MR imaging is often normal, and also in both

  3. [Cochleovestibular dysplasia: a case report].

    Science.gov (United States)

    Darbi, A; Cenoui, F; Atmane, A; Amil, T; Hanine, A

    2010-04-01

    Cochleovestibular dysplasia or Mondini malformation is exceptional. Cochlear dysplasia is due to early cessation of the development of the inner ear during embryonic life. We report on the case of an infant who presented with perception deafness and repeated meningitis. CT allowed the diagnosis of Mondini malformation. We underline the importance of high-resolution CT in the diagnosis of Mondini malformation. Copyright 2010 Elsevier Masson SAS. All rights reserved.

  4. Pathophysiology, diagnosis, and treatment of canine hip dysplasia

    International Nuclear Information System (INIS)

    Cook, J.L.; Tomlinson, J.L.; Constantinescu, G.M.

    1996-01-01

    Dogs with hip dysplasia are commonly presented to veterinarians for evaluation. Although many causes of the condition have been proposed, a definitive cause has not been established. The multifactorial nature of canine hip dysplasia can confuse client education and management ofthe disease. The basic concept involved is the biomechanical imbalance between the forces on the coxofemoral joint and the associated muscle mass; the result is joint laxity in young, growing dogs. This laxity leads to incongruity; the eventual result is degenerative joint disease. Canine hip dysplasia can affect any breed but is most often reported in large and giant breeds. Understanding the pathophysiology and biomechanics involved with this developmental disease is important in providing clients with diagnostic, therapeutic, and prognostic information. The selection of treatment is influenced by the following factors:the age, health, and intended use of the patient; clinical signs; diagnostic findings; the availability of treatment; and the financial constraints of the owner. This article discusses the current concepts concerning the pathophysiology and biomechanics of canine hip dysplasia and outlines diagnostic and therapeutic options. The objective of the article is to provide practitioners with a reference for decision making and client education

  5. Expression and cellular distribution of multidrug transporter proteins in two major causes of medically intractable epilepsy: Focal cortical dysplasia and glioneuronal tumors

    NARCIS (Netherlands)

    Aronica, E.; Gorter, J. A.; Jansen, G. H.; van Veelen, C. W. M.; van Rijen, P. C.; Leenstra, S.; Ramkema, M.; Scheffer, G. L.; Scheper, R. J.; Troost, D.

    2003-01-01

    The cell-specific distribution of multidrug resistance extrusion pumps was studied in developmental glioneuronal lesions, including focal cortical dysplasia (15 cases) and ganglioglioma (15 cases) from patients with medically intractable epilepsy. Lesional, perilesional, as well as normal brain

  6. Sirenomelia with radial dysplasia.

    Science.gov (United States)

    Kulkarni, M L; Abdul Manaf, K M; Prasannakumar, D G; Kulkarni, Preethi M

    2004-05-01

    Sirenomelia is a rare anomaly usually associated with other multiple malformations. In this communication the authors report a case of sirenomelia associated with multiple malformations, which include radial hypoplasia also. Though several theories have been proposed regarding the etiology of multiple malformation syndromes in the past, the recent theory of primary developmental defect during blastogenesis holds good in this case.

  7. Progressive pseudorheumatoid dysplasia

    International Nuclear Information System (INIS)

    Mampaey, S.; De Schepper, A.; Vanhoenacker, F.; Boven, K.; Hul, W. van

    2000-01-01

    A rare case of progressive pseudorheumatoid dysplasia (PPD) in a 9-year-old girl is presented. Clinically, chronic painless swollen joints, accompanied by progressive motion restriction and progressive walking difficulties, were found. Radiologically, there was enlargement of the epimetaphyseal portions of the large joints, metacarpal heads, and phalanges, and generalized platyspondyly with irregular delineation of the endplates of the vertebral bodies. The radioclinical features at the peripheral joints were originally misdiagnosed as juvenile rheumatoid arthritis (JRA), and the structural spinal abnormalities were neglected and interpreted as Scheuermann's disease. However, the absence of active inflammatory parameters argues against JRA, whereas the low age of onset of the irregularities at the vertebral endplates is an argument against the diagnosis of Scheuermann's disease. The combination of the dysplastic abnormalities of the spine, with platyspondyly and Scheuermann-like lesions at an unusually low age of onset, and radiological features mimicking JRA of the peripheral joints, is the clue to the diagnosis of this rare autosomal-recessive disease. This case is the first to document the MRI features of PPD of the spine. (orig.)

  8. Ureaplasma and bronchopulmonary dysplasia.

    Science.gov (United States)

    Gancia, Paolo; Delogu, Antonio; Pomero, Giulia

    2014-03-01

    Advances in neonatal intensive care have greatly improved survival rates for children born in a very early stage of lung development (i.e. less than 26 weeks of gestation). In these premature babies, even low levels of oxygen and methods of minimally invasive ventilation may disrupt the growth of the distal airways, a condition described as "new" bronchopulmonary dysplasia (BPD). Ureaplasma infection can occur in utero or in the perinatal period in premature infants, in some of which the infection with these organisms triggers an important lung pro-inflammatory and pro-fibrotic response, and may increase the risk of developing BPD. The inflammation may be worsened by exposure to oxygen and mechanical ventilation. At present, clinical studies have not clarified the role of Ureaplasma in the pathogenesis of BPD and there is insufficient evidence to determine whether antibiotic treatment of Ureaplasma has influence on the development of BPD and its comorbidities. Future research in the context of well-designed and controlled clinical trials of adequate statistical power should focus on how to determine whether the treatment of Ureaplasma decreases lung inflammation, reduces rates of BPD, and improves long-term neurodevelopment. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  9. Recurrent Bacterial Meningitis in a Child with Mondini Dysplasia

    Directory of Open Access Journals (Sweden)

    Eda Kepenekli-Kadayifci

    2014-01-01

    Full Text Available Mondini dysplasia, also known as Mondini malformation, is a developmental abnormality of the inner and middle ears that can cause hearing loss, cerebrospinal fluid (CSF leakage, and recurrent bacterial meningitis (RBM, which is defined as two or more episodes of meningitis separated by a period of convalescence and the complete resolution of all signs and symptoms. An accurate diagnosis of the underlying pathology is crucial to prevent further episodes from occurring. Herein, we present a three-year-old boy with RBM and unilateral sensorineural hearing loss. During the evaluation to determine the etiology of the RBM, cystic malformation in the cochlea and vestibular dilatation consistent with Mondini dysplasia were detected via computerized tomography (CT of the temporal bone.

  10. Recurrent bacterial meningitis in a child with mondini dysplasia.

    Science.gov (United States)

    Kepenekli-Kadayifci, Eda; Karaaslan, Ayşe; Atıcı, Serkan; Binnetoğlu, Adem; Sarı, Murat; Soysal, Ahmet; Altınkanat, Gülşen; Bakır, Mustafa

    2014-01-01

    Mondini dysplasia, also known as Mondini malformation, is a developmental abnormality of the inner and middle ears that can cause hearing loss, cerebrospinal fluid (CSF) leakage, and recurrent bacterial meningitis (RBM), which is defined as two or more episodes of meningitis separated by a period of convalescence and the complete resolution of all signs and symptoms. An accurate diagnosis of the underlying pathology is crucial to prevent further episodes from occurring. Herein, we present a three-year-old boy with RBM and unilateral sensorineural hearing loss. During the evaluation to determine the etiology of the RBM, cystic malformation in the cochlea and vestibular dilatation consistent with Mondini dysplasia were detected via computerized tomography (CT) of the temporal bone.

  11. Spondylometaphyseal dysplasia with hypercalcemia. [Radiological studies

    Energy Technology Data Exchange (ETDEWEB)

    Bagga, A.; Srivastava, R.N.; Gupta, S.; Gupta, A.

    1989-08-01

    Kozlowski's spondylometaphyseal dysplasia is characterised by short-trunk dwarfism, platyspondyly, metaphyseal dysplasia and retarded bone age. We report an association of this syndrome with asymptomatic, hypocalciuric hypercalcemia, a previously undocumented finding. (orig.).

  12. Ectodermal dysplasia: a genetic review.

    Science.gov (United States)

    Deshmukh, Seema; Prashanth, S

    2012-09-01

    Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202.

  13. Evaluation of the results of operative treatment of hip dysplasia in ...

    African Journals Online (AJOL)

    El-Sayed Abdel Halim Abdullah

    2012-02-25

    Feb 25, 2012 ... developmental dysplasia of the hip, either secondary to de- layed diagnosis or failed ... the end of follow-up. Trendelenburg test, limping, hip stability ... modified MacKay criteria and modified Harris hip score (Ta- ble 1).9,10 ...

  14. On the intersection of irreducible components of the space of finite-dimensional Lie algebras

    International Nuclear Information System (INIS)

    Gorbatsevich, Vladimir V

    2012-01-01

    The irreducible components of the space of n-dimensional Lie algebras are investigated. The properties of Lie algebras belonging to the intersection of all the irreducible components of this kind are studied (these Lie algebras are said to be basic or founding Lie algebras). It is proved that all Lie algebras of this kind are nilpotent and each of these Lie algebras has an Abelian ideal of codimension one. Specific examples of founding Lie algebras of arbitrary dimension are described and, to describe the Lie algebras in general, we state a conjecture. The concept of spectrum of a Lie algebra is considered and some of the most elementary properties of the spectrum are studied. Bibliography: 6 titles.

  15. Irreducible Representations of Oscillatory and Swirling Flows in Active Soft Matter

    Science.gov (United States)

    Ghose, Somdeb; Adhikari, R.

    2014-03-01

    Recent experiments imaging fluid flow around swimming microorganisms have revealed complex time-dependent velocity fields that differ qualitatively from the stresslet flow commonly employed in theoretical descriptions of active matter. Here we obtain the most general flow around a finite sized active particle by expanding the surface stress in irreducible Cartesian tensors. This expansion, whose first term is the stresslet, must include, respectively, third-rank polar and axial tensors to minimally capture crucial features of the active oscillatory flow around translating Chlamydomonas and the active swirling flow around rotating Volvox. The representation provides explicit expressions for the irreducible symmetric, antisymmetric, and isotropic parts of the continuum active stress. Antisymmetric active stresses do not conserve orbital angular momentum and our work thus shows that spin angular momentum is necessary to restore angular momentum conservation in continuum hydrodynamic descriptions of active soft matter.

  16. Towards next-to-leading order transport coefficients from the four-particle irreducible effective action

    International Nuclear Information System (INIS)

    Carrington, M. E.; Kovalchuk, E.

    2010-01-01

    Transport coefficients can be obtained from two-point correlators using the Kubo formulas. It has been shown that the full leading order result for electrical conductivity and (QCD) shear viscosity is contained in the resummed two-point function that is obtained from the three-loop three-particle irreducible resummed effective action. The theory produces all leading order contributions without the necessity for power counting, and in this sense it provides a natural framework for the calculation. In this article we study the four-loop four-particle irreducible effective action for a scalar theory with cubic and quartic interactions, with a nonvanishing field expectation value. We obtain a set of integral equations that determine the resummed two-point vertex function. A next-to-leading order contribution to the viscosity could be obtained from this set of coupled equations.

  17. Baryonic sources using irreducible representations of the double-covered octahedral group

    International Nuclear Information System (INIS)

    Basak, S.; Edwards, R.; Fiebig, R.; Fleming, G.T.; Heller, U.M.; Morningstar, C.; Richards, D.; Sato, I.; Wallace, S.

    2005-01-01

    Irreducible representations (IRs) of the double-covered octahedral group are used to construct lattice source and sink operators for three-quark baryons. The goal is to achieve a good coupling to higher spin states as well as ground states. Complete sets of local and nonlocal straight-link operators are explicitly shown for isospin 1/2 and 3/2 baryons. The orthogonality relations of the IR operators are confirmed in a quenched lattice simulation

  18. On the mixed symmetry irreducible representations of the Poincare group in the BRST approach

    International Nuclear Information System (INIS)

    Burdik, C.; Pashnev, A.; Tsulaya, M.

    2001-01-01

    The Lagrangian description of irreducible massless representations of the Poincare group with the corresponding Young tableaux having two rows along with some explicit examples including the notoph and Weyl tensor is given. For this purpose the method of the BRST constructions is used adopted to the systems of the second class constraints by the construction of auxiliary representations of the algebras of constraints in terms of Verma modules

  19. A bound for the Schur index of irreducible representations of finite groups

    Energy Technology Data Exchange (ETDEWEB)

    Kiselev, D D [M. V. Lomonosov Moscow State University, Faculty of Mechanics and Mathematics, Moscow (Russian Federation)

    2013-08-31

    We construct an optimal bound for the Schur index of irreducible complex representations of finite groups over the field of rational numbers, when only the prime divisors of the order of the group are known. We study relationships with compatible and universally compatible extensions of number fields. We give a simpler proof of the well-known Berman-Yamada bound for the Schur index over the field Q{sub p}. Bibliography: 7 titles.

  20. Baryonic sources using irreducible representations of the double-covered octahedral group

    International Nuclear Information System (INIS)

    Basak, S.; Edwards, R.; Fiebig, R.; Fleming, G. T.; Heller, U. M.; Morningstar, C.; Richards, D.; Sato, I.; Wallace, S.

    2004-01-01

    Irreducible representations (IRs) of the double-covered octahedral group are used to construct lattice source and sink operators for three-quark baryons. The goal is to achieve a good coupling to higher spin states as well as ground states. Complete sets of local and nonlocal straight-link operators are explicitly shown for isospin 1/2 and 3/2 baryons. The orthogonality relations of the IR operators are confirmed in a quenched lattice simulation

  1. Analytic vectors and irreducible representations of nilpotent Lie groups and algebras

    International Nuclear Information System (INIS)

    Arnal, D.

    1978-01-01

    Let U be a unitary irreducible locally faithful representation of a nilpotent Lie group G, V the universal enveloping algebra of G, M a simple module on V with kernel ker dU, then there exists an automorphism of V keeping ker dU invariant such that, after transport of structure, M is isomorphic to a submodule of the space of analytic vectors for U. (Auth.)

  2. Chondroectodermal dysplasia: a rare syndrome.

    Directory of Open Access Journals (Sweden)

    Dana Tahririan

    2014-06-01

    Full Text Available Chondroectodermal dysplasia (Ellis-Van Creveld syndrome is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

  3. Irreducibility and co-primeness as an integrability criterion for discrete equations

    International Nuclear Information System (INIS)

    Kanki, Masataka; Mada, Jun; Mase, Takafumi; Tokihiro, Tetsuji

    2014-01-01

    We study the Laurent property, the irreducibility and co-primeness of discrete integrable and non-integrable equations. First we study a discrete integrable equation related to the Somos-4 sequence, and also a non-integrable equation as a comparison. We prove that the conditions of irreducibility and co-primeness hold only in the integrable case. Next, we generalize our previous results on the singularities of the discrete Korteweg–de Vries (dKdV) equation. In our previous paper (Kanki et al 2014 J. Phys. A: Math. Theor. 47 065201) we described the singularity confinement test (one of the integrability criteria) using the Laurent property, and the irreducibility, and co-primeness of the terms in the bilinear dKdV equation, in which we only considered simplified boundary conditions. This restriction was needed to obtain simple (monomial) relations between the bilinear form and the nonlinear form of the dKdV equation. In this paper, we prove the co-primeness of the terms in the nonlinear dKdV equation for general initial conditions and boundary conditions, by using the localization of Laurent rings and the interchange of the axes. We assert that co-primeness of the terms can be used as a new integrability criterion, which is a mathematical re-interpretation of the confinement of singularities in the case of discrete equations. (paper)

  4. Thanatophoric Dysplasia: A Rare Entity

    Directory of Open Access Journals (Sweden)

    N.S. Naveen

    2011-05-01

    Full Text Available Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, prominent eyes, hypertelorism and the depressed nasal bridge. The diagnosis is usually made with the ultrasonography in the second trimester. In this study we report a case of this rare entity with emphasis on its anatomical features, abnormalities and clinical profile with relevant review of literature.

  5. Managing Children with Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    A. A. Baranov

    2016-01-01

    Full Text Available Bronchopulmonary dysplasia is one of the most significant early childhood chronic respiratory diseases. The article features modern approaches to preventing, diagnosing and treating broncho-pulmonary dysplasia, as well as ways of preventing complications and undesirable disease outcomes in patients older than 3 years. Members of professional associations — Union of Pediatricians of Russia and Russian Association of Perinatal Medicine Specialists — have summarized the experience of managing this category of patients at leading Russian pediatric centers according to the principles of evidence-based medicine and have provided scientific and practical data corresponding to the world level of knowledge with regard to the present problem.

  6. Avaliação clínica e radiológica após procedimento de Salter e Ombrédanne na displasia de desenvolvimento do quadril Clinical and radiological evaluation on developmental hip dysplasia after salter and Ombrédanne procedure

    Directory of Open Access Journals (Sweden)

    Válney Luiz da Rocha

    2011-01-01

    Full Text Available OBJETIVO: Avaliar o resultado clínico e radiológico em médio prazo do tratamento cirúrgico da displasia do desenvolvimento do quadril através da osteotomia do osso inominado de Salter e o encurtamento femoral de Ombrédanne. MÉTODOS: Foram avaliados 14 pacientes, 18 quadris (sete quadris do lado direito e 11 do lado esquerdo, todos tratados cirurgicamente entre 1998 e 2008 pela técnica proposta. Foi realizada avaliação clínica e radiológica pelos critérios de Dutoit e Severin, respectivamente. RESULTADOS: Nos sete quadris do lado direito o índice pré-operatório médio foi de 43,3º (40º a 50º, sendo corrigido cirurgicamente, em média, para 31,57º (24º a 42º, enquanto os 11 quadris do lado esquerdo tinham média pré-operatória de 42,1º (36º a 56º evoluindo para 30,36º (20º a 44º, sendo que as avaliações dos índices acetabulares pré e pós-operatórios apresentaram significância estatística com P 0,05. Como complicações, ocorreram uma subluxação, uma osteonecrose e uma osteonecrose associada à subluxação. CONCLUSÃO: O procedimento combinado de Salter e Ombrédanne é uma opção viável para o tratamento da displasia de desenvolvimento do quadril após o início da marcha.OBJECTIVE: To evaluate the clinical and radiological medium-term results from surgical treatment of developmental hip dysplasia through Salter innominate bone osteotomy and Ombrédanne femoral shortening. METHODS: Fourteen patients were evaluated, with surgical treatment on 18 hips (seven right-side hips and eleven left-side hips using the proposal technique, performed between 1998 and 2008. The Dutoit and Severin criteria were used respectively for clinical and radiographic evaluations. RESULTS: The average preoperative index for the seven right-side hips was 43.3º (40º to 50º, and this was corrected through surgery to an average of 31.57º (24º to 42º. The average preoperative index for the eleven left-side hips was 42.1º (36º

  7. Irreducible Anterior Shoulder Dislocation Associated With Displaced Fracture of the Greater Tuberosity: An Analysis of Seven Cases

    Directory of Open Access Journals (Sweden)

    Morteza Nakhaei Amroodi

    2015-11-01

    Full Text Available Background: Although anterior shoulder dislocation is the most prevalent type of body dislocation, irreducible anterior shoulder dislocation is seldom reported in the literature, which is usually due to physical obstacles. Objectives: This study presents our findings regarding the causes of irreducibility of anterior shoulder dislocation associated with displaced fracture of the greater tuberosity. Patients and Methods: CT scans, open reduction of the joint, and internal fixation of the tuberosity was performed in seven patients with irreducible anterior shoulder dislocation associated with displaced fracture of the greater tuberosity. Results: As confirmed by intraoperative findings, the CT scans showed the cause of irreducible shoulder dislocation in six cases was the interposition of the long head of biceps (LHB in the anterior of the head that was displaced from the fracture line between the greater and lesser tuberosities. In another case, the greater and lesser tuberosities were attached to each other and were separated from the head. This fractured part was trapped. Conclusions: We suggest that performing CT scans in all cases of anterior shoulder dislocations with displaced fracture of the greater tuberosity can help surgeons to diagnose the accompanying fractures and possible complications, such as irreducibility. If the fracture line passes through the bicipital groove or in the case of a shield fracture, possible irreducibility should be borne in mind.

  8. Dentomaxillofacial characteristics of ectodermal dysplasia.

    Science.gov (United States)

    Nakayama, Yumiko; Baba, Yoshiyuki; Tsuji, Michiko; Fukuoka, Hiroki; Ogawa, Takuya; Ohkuma, Mizue; Moriyama, Keiji

    2015-02-01

    The aim of this retrospective hospital-based study was to elucidate the dentomaxillofacial characteristics of ectodermal dysplasia. Six Japanese individuals (one male and five female; age range, 12.7-27.2 years) underwent comprehensive examinations, including history recording, cephalometric analysis, panoramic radiography, and analysis of dental models. All the subjects had two or more major manifestations for clinical diagnosis of ectodermal dysplasia (e.g., defects of hair, teeth, nails, and sweat glands). They presented hypodontia (mean number of missing teeth, 9.5; range, 5-14), especially in the premolar region, and enamel dysplasia. Five subjects had bilateral molar occlusion, whereas one subject had unilateral molar occlusion. The common skeletal features were small facial height, maxillary hypoplasia, counterclockwise rotation of the mandible, and mandibular protrusion. Interestingly, the maxillary first molars were located in higher positions and the upper anterior facial height was smaller than the Japanese norm. The results suggest that vertical and anteroposterior maxillary growth retardation, rather than lack of occlusal support due to hypodontia, leads to reduced anterior facial height in individuals with ectodermal dysplasia. © 2014 Japanese Teratology Society.

  9. Cranioectodermal Dysplasia : A Probable Ciliopathy

    NARCIS (Netherlands)

    Konstantinidou, Anastasia E.; Fryssira, Helen; Sifakis, Stavros; Karadimas, Charalampos; Kaminopetros, Petros; Agrogiannis, Georgios; Velonis, Stylianos; Nikkels, Peter G. J.; Patsouris, Efstratios

    2009-01-01

    Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive genetic disorder characterized by typical craniofacial, skeletal and ectodermal defects, and tubulointerstitial nephritis leading to early end-stage renal failure. We report on a new familial case

  10. Hypohidrotic ectodermal dysplasia with anodontia: A rare case-rehabilitation by prosthetic management

    Directory of Open Access Journals (Sweden)

    M Naveen Kumar

    2012-01-01

    Full Text Available Ectodermal dysplasia is a hereditary disorder characterized by developmental dystrophies of ectodermal derivatives- It is characterized by triad of signs comprising sparse hair, abnormal or missing teeth and inability to sweat. This case of 12-year-old boy with hypohidrotic ectodermal dysplasia and complete anodontia of both primary and permanent dentition is presented. Owing to the need for treatment at an early age for anodontia and due to the ill-formed maxillary and mandibular residual ridges, the prosthetic management can be difficult. Complete dentures with soft liners and hollow maxillary denture were provided to encourage normal psychological development and to improve the function of the stomatognathic system.

  11. Prosthodontic management of hypohidrotic ectodermal dysplasia: a case report

    Directory of Open Access Journals (Sweden)

    Emilija Bajraktarova Valjakova

    2015-09-01

    Full Text Available Introduction: Ectodermal dysplasia (ED is a hereditary disorder associated with developmental disorders of two or more structures of ectodermal embryonic origin. Hypodontia or anodontia of the primary and permanent dentition, poorly developed alveolar ridges and improper maxillo – mandibular relations, are the most common oral manifestations. Management of patients with ectodermal dysplasia requires a multidisciplinary team approach. Case presentation: A 6.5 year-old boy with hypohidrotic ectodermal dysplasia (HED presented in this article, had typical features of HED: hypohidrosis, hypotrichosis, severe hypodontia, atrophic alveolar ridges, old-looking facial expression. According to the patient’s age and clinical findings, removable complete over-denture prosthesis in both arches was the treatment of choice. Conclusion: In patients with ED, it is important to establish correct maxillo – mandibular relations and normal function of the dento-facial system (chewing, swallowing, and speaking. Prosthodontic treatment has a major impact on aesthetics and functions,facilitates psychological development and improves emotional condition and social life of the patient.

  12. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    Science.gov (United States)

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  13. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    OpenAIRE

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  14. Generation and importance of linked and irreducible moment diagrams in the recursive residue generation method

    International Nuclear Information System (INIS)

    Schek, I.; Wyatt, R.E.

    1986-01-01

    Molecular multiphoton processes are treated in the Recursive Residue Generation Method (A. Nauts and R.E. Wyatt, Phys. Rev. Lett 51, 2238 (1983)) by converting the molecular-field Hamiltonian matrix into tridiagonal form, using the Lanczos equations. In this study, the self-energies (diagonal) and linking (off-diagaonal) terms in the tridiagonal matrix are obtained by comparing linked moment diagrams in both representations. The dynamics of the source state is introduced and computed in terms of the linked and the irreducible moments

  15. r-particle irreducible kernels, asymptotic completeness and analyticity properties of several particle collision amplitudes

    International Nuclear Information System (INIS)

    Bros, J.

    1984-01-01

    An account is given of the present status of many-particle structure analysis in the general framework of massive quantum field theory. Two main questions are discussed, namely: i) the equivalence between the asymptotic completeness of a field and the r-particle irreducibility of associated Bether-Salpeter type kernels; ii) the derivation of extended analyticity properties of the Green functions and multiparticle collision amplitudes around the corresponding physical regions. Substantial results concerning the 3→3 particle processes are described. An analogous multiparticle version of these results yields a partial understanding of the general case

  16. On the geometry of certain irreducible non-torus plane sextics

    DEFF Research Database (Denmark)

    Eyral, Christophe; Oka, Mutsuo

    2009-01-01

    An irreducible non-torus plane sextic with simple singularities is said to be special if its fundamental group factors to a dihedral group. There exist (exactly) ten configurations of simple singularities that are realizable by such curves. Among them, six are realizable by non-special sextics...... as well. We conjecture that for each of these six configurations there always exists a non-special curve whose fundamental group is abelian, and we prove this conjecture for three configurations (another one has already been treated in one of our previous papers). As a corollary, we obtain new explicit...

  17. Complex orthopaedic management of patients with skeletal dysplasias

    Directory of Open Access Journals (Sweden)

    A. G. Baindurashvili

    2014-01-01

    Full Text Available Skeletal dysplasias are challenging for diagnostics and treatment. We present a series of fifteen patients with different forms of skeletal dysplasias with age ranged from 6 to 17 years with variable clinical presentations managed as a part of the project of scientific cooperation between Turner Paediatric Orthopaedic Institute and Orthopaedic Hospital Vienna-Speising. The spectrum of diagnoses included multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, metaphyseal dysplasia, spondylometaphyseal dysplasia, Stickler syndrome, Kniest dysplasia, and anauxetic dysplasia. Complex treatment, which included axial correction and juxta-articular realignment, was performed as a single-stage, or consecutive surgery. Surgical techniques included corrective osteotomies with internal fixation, guided growth technique and external fixation devices. Best results (full axial correction, normal alignment of the joint were achieved in 8 patients, including 2 patients with metaphyseal dysplasia, 2 patients with multiple epyphyseal dysplasia, 2 patients with spondyloepyphyseal dysplasia, patient with Stickler syndrome and patient with spondylometaphyseal dysplasia. Good results (partial correction at the present time were seen in 4 patients (2 patients with Kniest dysplasia, 1 - with multiple epyphyseal dysplasia and 1 - with anauxetic dysplasia. Satisfactory results (non-progressive condition in previous progression were obtained in 2 patients with diastrophic dysplasia, and poor results (progression of the deformity - in 1 patient with diastrophic dysplasia. Positive results in most of the cases of our series make promising future for usage of complex approach for orthopedic management of children with skeletal dysplasias; advanced international cooperation is productive and helpful for diagnostics and management of rare diseases.

  18. Craniofacial features of cleidocranial dysplasia

    Directory of Open Access Journals (Sweden)

    Chin-Yun Pan

    2017-12-01

    Full Text Available Cleidocranial dysplasia (CCD is an autosomal-dominant malformation syndrome affecting bones and teeth. The most common skeletal and dental abnormalities in affected individuals are hypoplastic/aplastic clavicles, open fontanelles, short stature, retention of primary teeth, delayed eruption of permanent teeth, supernumerary teeth, and multiple impacted teeth. Treatment of CCD requires a multidisciplinary approach that may include dental corrections, orthognathic surgery and cranioplasty along with management of any complications of CCD. Early diagnosis of this condition enables application of the treatment strategy that provides the best quality of life to such patients. Notably, Runx2 gene mutations have been identified in CCD patients. Therefore, further elucidation of the molecular mechanism of supernumerary teeth formation related to Runx2 mutations may improve understanding of dental development in CCD. The insights into CCD pathogenesis may assist in the development of new treatments for CCD. Keywords: cleidocranial dysplasia, mutation, Runx2, supernumerary teeth

  19. Cleidocranial dysplasia: a case report

    International Nuclear Information System (INIS)

    Kim, Jae Duk; Lee, Chang Yul; You, Choong Hyun

    2004-01-01

    Cleidocranial dysplasia is a rare and autosomal dominant disorder characterized by aplasia or hypoplasia of the clavicles, an open fontanelle, dental abnormalities, and short stature. A 17-year-old female who presented with short stature and subsequent delay in eruption of permanent teeth is described. she showed the abnormal hypermobility of the shoulder, ocular hypertelorism and concave nasal bridge. Radiographs revealed the underdeveloped maxilla, defect of the cranium in the fontanelle region, and aplasia of the clavicles. Characteristically, panoramic view revealed near parallel-sided borders of the ascending ramus and downward curvature of the zygomatic arch with hypoplasia. The prolonged retention of deciduous teeth with delayed eruption of permanent teeth and multiple embedded supernumerary teeth were striking. Radiographic and clinical investigations revealed Cleidocranial dysplasia.

  20. Cleidocranial dysplasia: a case report

    International Nuclear Information System (INIS)

    Han, Jin Won

    2005-01-01

    Cleidocranial dysplasia is a rare, autosomal dominant congenital disorder. A 12-year-old female visited with chief complaint of unerupted permanent teeth. Also her father showed severe class III malocclusion. The extraoral radiography and computed tomography showed delayed closure of the cranial sutures and underdevelopment of maxilla, maxillary sinuses, and frontal sinus. Both clavicles were underdeveloped and thoracic rib cage was bell-shaped. Both zygomatic process appeared as hypoplastic feature. There were many unerupted permanent and supernumerary teeth in the maxilla and mandible. We examined location and number of the unerupted teeth using 3D CT. Finally we could conclude this case was cleidocranial dysplasia based on the clinico-radiologic findings.

  1. [Bronchopulmonary dysplasia: definitions and classifications].

    Science.gov (United States)

    Sánchez Luna, M; Moreno Hernando, J; Botet Mussons, F; Fernández Lorenzo, J R; Herranz Carrillo, G; Rite Gracia, S; Salguero García, E; Echaniz Urcelay, I

    2013-10-01

    Bronchopulmonary dysplasia is the most common sequelae related to very low birth weight infants, mostly with those of extremely low birth weight. Even with advances in prevention and treatment of respiratory distress syndrome associated with prematurity, there is still no decrease in the incidence in this population, although a change in its clinical expression and severity has been observed. There are, however, differences in its frequency between health centres, probably due to a non-homogeneously used clinical definition. In this article, the Committee of Standards of the Spanish Society of Neonatology wishes to review the current diagnosis criteria of bronchopulmonary dysplasia to reduce, as much as possible, these inter-centre differences. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  2. Mechanical Ventilation and Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Keszler, Martin; Sant'Anna, Guilherme

    2015-12-01

    Mechanical ventilation is an important potentially modifiable risk factor for the development of bronchopulmonary dysplasia. Effective use of noninvasive respiratory support reduces the risk of lung injury. Lung volume recruitment and avoidance of excessive tidal volume are key elements of lung-protective ventilation strategies. Avoidance of oxidative stress, less invasive methods of surfactant administration, and high-frequency ventilation are also important factors in lung injury prevention. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Ectodermal dysplasia in identical twins

    OpenAIRE

    Puttaraju, Gurkar Haraswarupa; Visveswariah, Paranjyothi Magadi

    2013-01-01

    Hereditary hypohidrotic ectodermal dysplasia (HED) is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands. Two cases of hereditary HED involving identical male twins, is being documented for the rarity of its occurrence with special attention given to genetics, pathophysiology, clinical, intraoral manifestations and to the methods to improve the masticatory function, the facia...

  4. Mondini Dysplasia Presenting as Otorrhea without Meningitis

    OpenAIRE

    Chien-Yu Lin; Hung-Ching Lin; Chun-Chih Peng; Kuo-Sheng Lee; Nan-Chang Chiu

    2012-01-01

    Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emp...

  5. Congenital distal humeral dysplasia: a case report

    International Nuclear Information System (INIS)

    Joseph, Benjamin; Varghese, Renjit A.

    2003-01-01

    Congenital dysplasia of the humerus is very rare. It is characteristically seen in omodysplasia and has also been reported as one of the associated features of Larsen's syndrome. We report a 4-year-old girl with bilateral humero-ulnar dysplasia, with dislocation of the elbows, facial dysmorphism, ball-and-socket ankles and foot deformities. Although the elbow dysplasia is similar to that seen in Larsen's syndrome, other pathognomic features of Larsen's syndrome were absent. The changes seen in the elbows in this patient are also different from those encountered in omodysplasia. We believe that this condition may be a distinct form of skeletal dysplasia hitherto undescribed. (orig.)

  6. Lower Lid Ectropion in Hypohidrotic Ectodermal Dysplasia

    Directory of Open Access Journals (Sweden)

    Xiaoyun Zhang

    2015-01-01

    Full Text Available We report a case of a lower lid ectropion with ectodermal dysplasia and ectropion blepharoplasty surgery experience. A 14-year-old Han nationality male patient with typical characteristics of hypohidrotic ectodermal dysplasia presented to our clinic for his right lower lid eversion. The patient was diagnosed as having hypohidrotic ectodermal dysplasia and underwent an uneventful blepharoplasty surgery. The lower lid maintained normal position during the 10-month follow-up period. Patients with ectodermal dysplasia could firstly visit ophthalmologist for their ectropion and blepharoplasty surgery could be useful for the disease.

  7. A case report of the fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    You, Dong Soo [Department of Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

    1975-11-15

    The author observed a rare case of fibrous dysplasia in 12 year old female who came to the Infirmary of Dental College, Seoul National University, complaining of facial asymmetry of 3 years' duration in right maxillofacial region. The serial radiograms has been taken, and the nature of the lesion established as a typical fibrous dysplasia according to the interpreted findings in their images. The author has obtained the results as follows: 1. Fibrous dysplasia occurred at 3 years of age in this case. 2. On familial tendency, traumatic history and endocrine disturbances were not noted in this patient. 3. The serial radiograms revealed a typical fibrous dysplasia encroaching right zygomatic bone.

  8. Pelvic radiograph in skeletal dysplasias: An approach

    Directory of Open Access Journals (Sweden)

    Manisha Jana

    2017-01-01

    Full Text Available The bony pelvis is constituted by the ilium, ischium, pubis, and sacrum. The pelvic radiograph is an important component of the skeletal survey performed in suspected skeletal dysplasia. Most of the common skeletal dysplasias have either minor or major radiological abnormalities; hence, knowledge of the normal radiological appearance of bony pelvis is vital for recognizing the early signs of various skeletal dysplasias. This article discusses many common and some uncommon radiological findings on pelvic radiographs along with the specific dysplasia in which they are seen; common differential diagnostic considerations are also discussed.

  9. A case report of the fibrous dysplasia

    International Nuclear Information System (INIS)

    You, Dong Soo

    1975-01-01

    The author observed a rare case of fibrous dysplasia in 12 year old female who came to the Infirmary of Dental College, Seoul National University, complaining of facial asymmetry of 3 years' duration in right maxillofacial region. The serial radiograms has been taken, and the nature of the lesion established as a typical fibrous dysplasia according to the interpreted findings in their images. The author has obtained the results as follows: 1. Fibrous dysplasia occurred at 3 years of age in this case. 2. On familial tendency, traumatic history and endocrine disturbances were not noted in this patient. 3. The serial radiograms revealed a typical fibrous dysplasia encroaching right zygomatic bone.

  10. Presentation of hypohidrotic ectodermal dysplasia in two siblings

    Directory of Open Access Journals (Sweden)

    Uday Ginjupally

    2015-01-01

    Full Text Available Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder. The two most common types of ectodermal dysplasias are hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome and hidrotic ectodermal dysplasia (Clouston syndrome. Hypohidrotic ectodermal dysplasia is characterized by hypodontia, hypotrichosis, and hypohidrosis. Here, we present two female sibling cases of hypohidrotic ectodermal dysplasia.

  11. p53 expression and mutation analysis of odontogenic cysts with and without dysplasia.

    Science.gov (United States)

    Cox, Darren P

    2012-01-01

    Overexpression of p53 protein is well described in odontogenic cystic lesions (OCLs), including those with epithelial dysplasia; however, most p53 antibodies stain both wild-type and mutated p53 protein and may not reflect genotype. Direct sequencing of the p53 gene has not identified mutations in OCLs with dysplasia. The purpose of this study was to determine the molecular basis of p53 expression in several types of OCLs with and without dysplasia. The study material comprised 13 OCLs: odontogenic keratocyst (n = 5), orthokeratinized odontogenic cyst (n = 5), dentigerous cyst (n = 2), lateral periodontal cyst (n = 1), and unspecified developmental odontogenic cyst (UDOC) (n = 1). Five of these had features of mild or moderate epithelial dysplasia. One intraosseous squamous cell carcinoma (SCC) that was believed to have arisen from an antecedent dysplastic orthokeratinized OC was also included. Immunohistochemistry was performed using the DO7 monoclonal antibody that recognizes wild-type and mutated p53. DNA was extracted from microdissected tissue for all samples and exons 4 to 8 of the p53 gene direct sequenced. In 4 of 5 OCLs with dysplasia there was strong nuclear staining of basal and suprabasal cells. In all cases without dysplasia, nuclear expression in basal cells was either negative or weak and was absent in suprabasal cell nuclei. A mutation in exon 6 of the p53 gene (E224D) was identified in both the dysplastic orthokeratinized OC and the subsequent intraosseous SCC. OCLs with features of dysplasia show increased expression of p53 protein that does not reflect p53 mutational status. One dysplastic OC shared the same p53 mutation with a subsequent intraosseous SCC, indicating that p53 mutation may be associated with malignant transformation in this case. Copyright © 2012 Elsevier Inc. All rights reserved.

  12. Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures

    International Nuclear Information System (INIS)

    Mennel, Emilie A.; John, Susan D.

    2003-01-01

    We report the case of a 23-month-old male with hypotonia, developmental delay, and complex seizures. Radiographs revealed profound sclerosis of the metaphyses and epiphyses of the long and short bones in the extremities, with a unique pattern of distribution. Sclerosis also involved the anterior ribs, iliac crests, talus, and calcaneus. The skull and vertebral bodies appeared unaffected. Blood lead levels were normal. We believe that this constellation of clinical and radiographic abnormalities closely resembles osteosclerotic metaphyseal dysplasia (OMD) due to an autosomal recessive defect. Characteristic skeletal findings were instrumental in determining the diagnosis. OMD is a very rare sclerosing bone disorder, first described in 1993. The syndrome is characterized clinically by developmental delay of a progressive nature, hypotonia, elevated alkaline phosphatase, and late-onset spastic paraplegia. We encountered a young child with these neurologic symptoms who displayed sclerotic metaphyseal changes on hand radiographs obtained to determine the bone age. Lead poisoning, a known cause of metaphyseal sclerosis, was initially suspected. Careful analysis of the metaphyseal bone changes helped to distinguish this bone dysplasia from lead poisoning and other causes of metaphyseal sclerosis. (orig.)

  13. A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

    Science.gov (United States)

    Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare developmental lung disorder that is uniformly lethal. Affected infants die within the first few weeks of their life despite aggressive treatment, although a few cases of late manifestation and longer survival have ...

  14. Early Detection of Development Dysplasia of the Hip in the Netherlands: The Validity of a standardized Assessment Protocol in Infants

    NARCIS (Netherlands)

    Boere-Boonekamp, Magdalena M.; Kerkhoff, Antoon; Schuil, Paul B.; Zielhuis, Gerhard A.

    1998-01-01

    The advantages of an early diagnosis of developmental dysplasia of the hip are well established. Early diagnosis means a shorter, less invasive course of treatment with more favorable results and fewer complications. In the Netherlands, the number of neonatally diagnosed cases is very low. Early

  15. Total hip replacement with a superolateral bone graft for osteoarthritis secondary to dysplasia: a long-term follow-up

    NARCIS (Netherlands)

    de Jong, P. T.; Haverkamp, D.; van der Vis, H. M.; Marti, R. K.

    2006-01-01

    We evaluated the long-term results of 116 total hip replacements with a superolateral shelfplasty in 102 patients with osteoarthritis secondary to developmental dysplasia of the hip. After a mean follow-up of 19.5 years (11.5 to 26.0), 14 acetabular components (12%) had been revised. The cumulative

  16. Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies

    Czech Academy of Sciences Publication Activity Database

    Kunová Bosáková, M.; Vařecha, M.; Hampl, Marek; Duran, I.; Nita, A.; Buchtová, Marcela; Dosedělová, Hana; Machat, R.; Xie, Y.; Ni, Z.; Martin, J. H.; Chen, L.; Jansen, G.; Krakow, D.; Krejčí, P.

    2018-01-01

    Roč. 27, č. 6 (2018), s. 1093-1105 ISSN 0964-6906 R&D Projects: GA MŠk EF15_003/0000460 Institutional support: RVO:67985904 Keywords : achondroplasia * thanatophoric dysplasia Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Developmental biology Impact factor: 5.340, year: 2016

  17. Phenotypic and genetic evaluation of elbow dysplasia in Dutch Labrador Retrievers, Golden Retrievers, and Bernese Mountain Dogs

    NARCIS (Netherlands)

    Lavrijsen, I.C.M.; Heuven, H.C.M.; Voorhout, G.; Meij, B.P.; Theyse, L.F.H.; Leegwater, P.A.J.; Hazewinkel, H.A.W.

    2012-01-01

    Canine elbow dysplasia encompasses four developmental diseases: ununited anconeal process, osteochondrosis of the medial part of the humeral condyle, fragmented medial coronoid process (FCP), and incongruity of the elbow joint. Four radiographic views per joint were used to evaluate 2693 Labrador

  18. Fibrous dysplasia of the femoral neck

    International Nuclear Information System (INIS)

    Savage, P.E.; Stoker, D.J.

    1984-01-01

    Fibrous dysplasia of the femur is usually observed in the intertrochanteric region. It is rarely confined to the femoral neck. We present four cases illustrating the radiographic appearance and spectrum of this condition which all showed the relatively lucent variety of fibrous dysplasia with varying degrees of expansion and surrounding sclerosis. The natural history of this condition is discussed. (orig.)

  19. (VDR) Gene Polymorphisms and Developmental Dysplasia of the ...

    Indian Academy of Sciences (India)

    Ahmad Abu Jaffal

    1 Pediatric Orthopedic Surgery Department, King Abdullah Specialized Children Hospital (KASCH), ... King Abdullah Specialized Children Hospital (KASCH), ..... diabetes. Diabetologia, 48, 1247-1257. Noordin S., Umer M., Hafeez K., and ...

  20. Bone scintigraphy in polyostotic fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Wadhwa, S.S.; Mansberg, R.; Fernandes, V.B. [Illawarra Regional Hospital, Wollongong, NSW, (Australia)

    1998-03-01

    Fibrous dysplasia is a benign skeletal disorder of unknown aetiology. Fibrous dysplasia characteristically involves the fibrous replacement of portions of the medullary cavities of a single bone (monostotic) or multiple bones (polyostotic). Bones typically involved include the femurs, tibiae, ribs and maxillae. The polyostotic form may be accompanied by skin pigmentation and endocrine abnormalities (McCune Allbright Syndrome). Radiological findings in fibrous dysplasia are variable, ranging from completely radiolucent to radio-opaque lesions, depending on the amount of fibrous or osseous tissue deposited in the medulla. The most common radiographic finding is that of a ground glass-like semi-opaque lesion. Case reports on scintigraphic manifestation of fibrous dysplasia are scanty. We present radiological and scintigraphic findings of polyostotic fibrous dysplasia in a young male. (authors). 3 refs., 1 fig.

  1. Mondini dysplasia with recurrent meningitis.

    Science.gov (United States)

    Lu, M Y; Lee, P I; Lee, C Y; Hsu, C J

    1996-01-01

    Mondini dysplasia is a congenital malformation of the inner ear, commonly associated with hearing impairment, cerebrospinal fluid otorrhea/rhinorrhea and recurrent meningitis. Two such cases are described, with hearing impairment, cerebrospinal fluid rhinorrhea, and several episodes of meningitis. Diagnosis was confirmed by high-resolution computed tomography. After surgical correction of the malformation, there was no recurrent episode of meningitis at subsequent follow-up. To avoid the suffering and the sequelae of recurrent meningitis, an early diagnosis and prompt surgical intervention are crucial for such patients.

  2. Cochlear implantation in Mondini dysplasia.

    Science.gov (United States)

    Daneshi, Ahmad; Hassanzadeh, Saeid; Abasalipour, Parvaneh; Emamdjomeh, Hessamaddin; Farhadi, Mohammad

    2003-01-01

    The use of cochlear implantation to treat patients with inner ear malformations such as Mondini dysplasia has been increasingly successful. Until now, conventional hearing aids in these patients have not performed well. Consequently, the hearing problem for patients with this condition has been somewhat improved with the use of cochlear implants. Various results of cochlear implantation have been reported in these patients so far. This is a report of 5 patients with Mondini malformation who have undergone cochlear implant surgery. Copyright 2003 S. Karger AG, Basel

  3. Hypoxic Episodes in Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Martin, Richard J; Di Fiore, Juliann M; Walsh, Michele C

    2015-12-01

    Hypoxic episodes are troublesome components of bronchopulmonary dysplasia (BPD) in preterm infants. Immature respiratory control seems to be the major contributor, superimposed on abnormal respiratory function. Relatively short respiratory pauses may precipitate desaturation and bradycardia. This population is predisposed to pulmonary hypertension; it is likely that pulmonary vasoconstriction also plays a role. The natural history has been well-characterized in the preterm population at risk for BPD; however, the consequences are less clear. Proposed associations of intermittent hypoxia include retinopathy of prematurity, sleep disordered breathing, and neurodevelopmental delay. Future study should address whether these associations are causal relationships. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. Cleidocranial dysplasia: A family report

    Directory of Open Access Journals (Sweden)

    Chelvan H

    2009-01-01

    Full Text Available A 10-year-old girl presented with a chief complaint of many unerupted teeth. Complete clinical and radiological examination of this patient confirmed the diagnosis of cleidocranial dysplasia (CCD. Her father also presented similar features with a lesser clinical severity. CCD is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2 gene. Failure of tooth eruption is probably mainly due to this mutated gene in CCD patients. Interdisciplinary treatment approach is obligatory for rehabilitation of these patients. In confirmed cases, genetic counseling for family planning should certainly be advised.

  5. Ectodermal dysplasia in identical twins

    Directory of Open Access Journals (Sweden)

    Gurkar Haraswarupa Puttaraju

    2013-01-01

    Full Text Available Hereditary hypohidrotic ectodermal dysplasia (HED is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands. Two cases of hereditary HED involving identical male twins, is being documented for the rarity of its occurrence with special attention given to genetics, pathophysiology, clinical, intraoral manifestations and to the methods to improve the masticatory function, the facial esthetics and psychology of patients affected by this disease.

  6. MRI of focal cortical dysplasia

    International Nuclear Information System (INIS)

    Lee, B.C.P.; Hatfield, G.A.; Bourgeois, B.; Park, T.S.

    1998-01-01

    We studied nine cases of focal cortical dysplasia (FCD) by MRI, with surface-rendered 3D reconstructions. One case was also examined using single-voxel proton MR spectroscopy (MRS). The histological features were reviewed and correlated with the MRI findings. The gyri affected by FCD were enlarged and the signal of the cortex was slightly increased on T1-weighted images. The gray-white junction was indistinct. Signal from the subcortical white matter was decreased on T1- and increased on T2-weighted images in most cases. Contrast enhancement was seen in two cases. Proton MRS showed a spectrum identical to that of normal brain. (orig.) (orig.)

  7. Irreducibility and Computational Equivalence 10 Years After Wolfram's A New Kind of Science

    CERN Document Server

    2013-01-01

    It is clear that computation is playing an increasingly prominent role in the development of mathematics, as well as in the natural and social sciences. The work of Stephen Wolfram over the last several decades has been a salient part in this phenomenon helping founding the field of Complex Systems, with many of his constructs and ideas incorporated in his book A New Kind of Science (ANKS) becoming part of the scientific discourse and general academic knowledge--from the now established Elementary Cellular Automata to the unconventional concept of mining the Computational Universe, from today's widespread Wolfram's Behavioural Classification to his principles of Irreducibility and Computational Equivalence. This volume, with a Foreword by Gregory Chaitin and an Afterword by Cris Calude, covers these and other topics related to or motivated by Wolfram's seminal ideas, reporting on research undertaken in the decade following the publication of Wolfram's NKS book. Featuring 39 authors, its 23 contributions are o...

  8. Geometric spin frustration for isolated plaquettes of the lattices: An extended irreducible tensor operator method

    International Nuclear Information System (INIS)

    Wang Fan; Chen Zhida

    2006-01-01

    A new strategy to search for the good quantum numbers for the corner-sharing spin systems, as archetypal plaquettes of the lattices, was suggested for the first time in order to study on geometric spin frustration. The calculations on energy spectra by using the irreducible tensor operator method with the new strategy can be much reduced. As representative examples the energy spectra for the spin pentamer of the tetrahedron with a centered spin site and the spin heptamer of three corner-sharing equilateral-triangle were examined in order to confirm efficiency of the new strategy. Through our code, with automatically searching for the good quantum numbers, the projection operators S iz , S ix and S iy matrices in the ground state space for the spin heptamer were reliably constructed

  9. Irreducible normalizer operators and thresholds for degenerate quantum codes with sublinear distances

    Science.gov (United States)

    Pryadko, Leonid P.; Dumer, Ilya; Kovalev, Alexey A.

    2015-03-01

    We construct a lower (existence) bound for the threshold of scalable quantum computation which is applicable to all stabilizer codes, including degenerate quantum codes with sublinear distance scaling. The threshold is based on enumerating irreducible operators in the normalizer of the code, i.e., those that cannot be decomposed into a product of two such operators with non-overlapping support. For quantum LDPC codes with logarithmic or power-law distances, we get threshold values which are parametrically better than the existing analytical bound based on percolation. The new bound also gives a finite threshold when applied to other families of degenerate quantum codes, e.g., the concatenated codes. This research was supported in part by the NSF Grant PHY-1416578 and by the ARO Grant W911NF-11-1-0027.

  10. Radial head button holing: a cause of irreducible anterior radial head dislocation

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Su-Mi; Chai, Jee Won; You, Ja Yeon; Park, Jina [Seoul National University Seoul Metropolitan Government Boramae Medical Center, Department of Radiology, Seoul (Korea, Republic of); Bae, Kee Jeong [Seoul National University Seoul Metropolitan Government Boramae Medical Center, Department of Orthopedic Surgery, Seoul (Korea, Republic of)

    2016-10-15

    ''Buttonholing'' of the radial head through the anterior joint capsule is a known cause of irreducible anterior radial head dislocation associated with Monteggia injuries in pediatric patients. To the best of our knowledge, no report has described an injury consisting of buttonholing of the radial head through the annular ligament and a simultaneous radial head fracture in an adolescent. In the present case, the radiographic findings were a radial head fracture with anterior dislocation and lack of the anterior fat pad sign. Magnetic resonance imaging (MRI) clearly demonstrated anterior dislocation of the fractured radial head through the torn annular ligament. The anterior joint capsule and proximal portion of the annular ligament were interposed between the radial head and capitellum, preventing closed reduction of the radial head. Familiarity with this condition and imaging findings will aid clinicians to make a proper diagnosis and fast decision to perform an open reduction. (orig.)

  11. Multipole analysis in the radiation field for linearized f (R ) gravity with irreducible Cartesian tensors

    Science.gov (United States)

    Wu, Bofeng; Huang, Chao-Guang

    2018-04-01

    The 1 /r expansion in the distance to the source is applied to the linearized f (R ) gravity, and its multipole expansion in the radiation field with irreducible Cartesian tensors is presented. Then, the energy, momentum, and angular momentum in the gravitational waves are provided for linearized f (R ) gravity. All of these results have two parts, which are associated with the tensor part and the scalar part in the multipole expansion of linearized f (R ) gravity, respectively. The former is the same as that in General Relativity, and the latter, as the correction to the result in General Relativity, is caused by the massive scalar degree of freedom and plays an important role in distinguishing General Relativity and f (R ) gravity.

  12. Experimental test of the irreducible four-qubit Greenberger-Horne-Zeilinger paradox

    Science.gov (United States)

    Su, Zu-En; Tang, Wei-Dong; Wu, Dian; Cai, Xin-Dong; Yang, Tao; Li, Li; Liu, Nai-Le; Lu, Chao-Yang; Żukowski, Marek; Pan, Jian-Wei

    2017-03-01

    The paradox of Greenberger-Horne-Zeilinger (GHZ) disproves directly the concept of EPR elements of reality, based on the EPR correlations, in an all-versus-nothing way. A three-qubit experimental demonstration of the GHZ paradox was achieved nearly 20 years ago, followed by demonstrations for more qubits. Still, the GHZ contradictions underlying the tests can be reduced to a three-qubit one. We show an irreducible four-qubit GHZ paradox, and report its experimental demonstration. The bound of a three-setting-per-party Bell-GHZ inequality is violated by 7 σ . The fidelity of the GHZ state was around 81 % , and an entanglement witness reveals a violation of the separability threshold by 19 σ .

  13. Oral rehabilitation of a young patient with hypohidrotic ectodermal dysplasia: A clinical report

    Directory of Open Access Journals (Sweden)

    A Anuroopa

    2012-01-01

    Full Text Available Ectodermal dysplasia (ED represents a group of patients with mild to severe congenital and developmental anomalies. Dentists are the first person to identify ED in young patients. The impairment is not just the form and function but extends to the social outlook as well as the psychology of the affected individual. This case report describes management of ED with a long-span fixed partial denture fabricated using a Broadrick flag.

  14. Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings

    OpenAIRE

    Benevides, Gabriel Nuncio; Picciarelli de Lima, Patricia; Felipe-Silva, Aloisio; Lovisolo, Silvana Maria; Pereira de Melo, Ana Maria Andrello Gonçalves

    2015-01-01

    Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, developmental lung disorder, which has been increasingly reported. This entity usually presents as neonatal persistent pulmonary hypertension that is unresponsive to treatment, and is known to be uniformly fatal. Recent discoveries in the genetic field, and intensive treatments, may change the natural course of this disease, permitting easier diagnosis and giving new hope for the dismal prognosis. The autho...

  15. US of the hips in skeletal dysplasias and chromosomal aberrations

    International Nuclear Information System (INIS)

    Langer, R.; Langer, M.F.J.; Zwicker, C.

    1987-01-01

    Since January 1984 all newborns and infants with skeletal dysplasias and chromosomal aberrations were investigated by hip US, in addition to plain x-ray surveys. The authors observed one chondroectodermal dysplasia, one congenital spondyloepiphysial dysplasia, one cleidocranial dysplasia, one fibrochondrogenesis, two diastrophic dysplasias, and eight trisomies. The abnormalities of the hip joints could be demonstrated, and were compared with the findings on plain films. Especially skeletal dysplasias with abundant presence of cartilage were well visible. The newborn with trisomies showed normal hip joints. In the authors' opinion, all newborns with skeletal dysplasias should be investigated by hip sonography, in addition to skeletal radiography

  16. Ectodermal dysplasia: otolaryngologic evaluation of 23 cases.

    Science.gov (United States)

    Yildirim, Muzeyyen; Yorgancilar, Ediz; Gun, Ramazan; Topcu, Ismail

    2012-02-01

    The aim of this prospective study was to improve the quality of life of and reduce morbidity for patients with ectodermal dysplasia by assessing their actual and potential ENT pathologies, and offering methods of prevention and treatment. The study was conducted between 2006 and 2008 and included 23 patients diagnosed with ectodermal dysplasia. The major symptoms of ectodermal dysplasia were evaluated. Patient histories were obtained in all cases, and a complete head and neck examination was carried out. Of the 23 patients (11 males and 12 females, aged 5 to 45 years) diagnosed with ectodermal dysplasia, 22 had hypohidrotic ectodermal dysplasia and 1 had ectrodactyly-ectodermal dysplasia-clefting syndrome. In all patients diagnosed with hypohidrotic ectodermal dysplasia, the salivary glands were examined by ultrasonography and, when necessary, by scintigraphy. Hearing defects in patients with otologic problems were determined by audiometric examination: 39.1% of the patients had hearing loss, 43.5% had otitis media, and 39.1% had impacted cerumen. The most common rhinologic findings were saddle nose deformity in 56.5%, nasal obstruction and nasal dryness (52.2% each), and chronic rhinitis/rhinosinusitis (34.8%). The most common oral and oropharyngeal findings were difficulty chewing in 82.6% and dry mouth in 78.3%. All 23 patients had required dental work. Because this disorder affects several aspects of the body, its treatment requires a multidisciplinary approach, with the otolaryngologist being a vital part of the management team.

  17. Multiple Epiphyseal Dysplasia (MED: A Rare Type of Skeletal Dysplasia

    Directory of Open Access Journals (Sweden)

    Mohammad Imnul Islam

    2012-06-01

    Full Text Available Multiple epiphyseal dysplasia (MED is a congenital disorder of skeletal development that primarily affects the ends of long bones, causing progressive joint and bone inflammation and short stature. Mutations in several genes are responsible for pathogenesis of this disease. We are reporting a case of MED who presented with the complaints of multiple swelling of the joints which was associated with pain during movement for last seven years. The patient had flexion deformity of all the affected joints along with restriction of movement. These were associated with kyphosis, pectus carnitum, knock-knee and short stature. Radiological findings were suggestive of MED. Counseling was done with the parents regarding the etiology, progression and outcome of the disease.DOI: http://dx.doi.org/10.3329/bsmmuj.v5i1.11025 BSMMU J 2012; 5(1:57-60 

  18. Anhidrotic ectodermal dysplasia presenting as atrophic rhinitis.

    Science.gov (United States)

    Barman, Debasis; Mandal, Satadal; Nandi, Santanu; Banerjee, Pranabashish; Rashid, M A

    2011-11-01

    Ectodermal dysplasia is a complex group of familial disorders with numerous clinical characteristics, with an incidence of 7 in 10000 born alive children. Ectodermal dysplasia affects structures of ectodermal origin like the skin and its appendages as well as other non-ectodermal structures. The most common sites of involvement are the defects in the skin, hair, teeth, nails and sweat glands,which are of ectodermal origin. Though the dermatologists and paediatricians often manage such cases, we report one case of ectodermal dysplasia presenting with atrophic rhinitis.

  19. Mondini Dysplasia Presenting as Otorrhea without Meningitis

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    Chien-Yu Lin

    2012-12-01

    Full Text Available Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emphasized. Temporal bone computed tomography should be considered in children with unilateral sensorineural or mixed-type hearing impairment.

  20. Mondini dysplasia presenting as otorrhea without meningitis.

    Science.gov (United States)

    Lin, Chien-Yu; Lin, Hung-Ching; Peng, Chun-Chih; Lee, Kuo-Sheng; Chiu, Nan-Chang

    2012-12-01

    Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emphasized. Temporal bone computed tomography should be considered in children with unilateral sensorineural or mixed-type hearing impairment. Copyright © 2012. Published by Elsevier B.V.

  1. Cleidocranial Dysplasia: Report of Two Cases

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    Avinash Kshar

    2010-01-01

    Full Text Available Cleidocranial dysplasia constitutes a congenital disorder manifested primarily in the development of facial and cranial bones, as well as partial development or complete absence of the clavicles and problems also arise on the number and eruption of teeth. It is a rare disease with autosomal dominant but 40% cases represented spontaneous mutations. This disease has no sex predilection. It is characterized by a generalized skeletal dysplasia. 1 In this article we are reporting two cases of cleidocranial dysplasia in son and father with characteristic clinical and radiographic features.

  2. Histochemical Analysis of Renal Dysplasia with Ureteral Atresia

    International Nuclear Information System (INIS)

    Kawate, Toyoko; Kawamura, Ryuki; Uchida, Takenori; Takahashi, Kyosuke; Hasegawa, Tomohiro; Futamata, Haruo; Katoh, Ryohei; Takeda, Sen

    2009-01-01

    Unilateral small kidney with ureteral obstruction was discovered in a 74-year-old female cadaver during an anatomical dissection course. In order to elucidate the histogenesis of renal dysplasia, we carried out histochemical and immunohistochemical analyses. On macroscopic view, the kidney was approximately 3 cm in length, 2 cm in width and weighed only 9 g. Although the ureter ran from the renal hilus to the bladder, its width was under 2 mm. The renal parenchyma was extremely thin and there was a large congested vein in the renal sinus. On microscopic examination of the kidney, we observed that numerous developing renal tubules had cytokeratin-positive epithelia, most of which were surrounded by concentric fibrosis. However, we could not detect any structures resembling the collecting duct, renal tubules, renal pelvis, or glomeruli. The concentric mesencymal fibrous tissue surrounding the immature renal tubules contained the smooth muscles that were positive for h-caldesmon. Serial sections of the ureter revealed several small and discontinuous lacunae lined by cuboidal and transitional epithelium, which did not constitute a patent lumen through the bladder. This case is a rare case of renal dysplasia with defect in recanalization of the ureteral bud during the early developmental stage

  3. Differential genetic regulation of canine hip dysplasia and osteoarthritis.

    Directory of Open Access Journals (Sweden)

    Zhengkui Zhou

    2010-10-01

    Full Text Available Canine hip dysplasia (HD is a common polygenic trait characterized by hip malformation that results in osteoarthritis (OA. The condition in dogs is very similar to developmental dysplasia of the human hip which also leads to OA.A total of 721 dogs, including both an association and linkage population, were genotyped. The association population included 8 pure breeds (Labrador retriever, Greyhounds, German Shepherd, Newfoundland, Golden retriever, Rottweiler, Border Collie and Bernese Mountain Dog. The linkage population included Labrador retrievers, Greyhounds, and their crosses. Of these, 366 dogs were genotyped at ∼22,000 single nucleotide polymorphism (SNP loci and a targeted screen across 8 chromosomes with ∼3,300 SNPs was performed on 551 dogs (196 dogs were common to both sets. A mixed linear model approach was used to perform an association study on this combined association and linkage population. The study identified 4 susceptibility SNPs associated with HD and 2 SNPs associated with hip OA.The identified SNPs included those near known genes (PTPRD, PARD3B, and COL15A1 reported to be associated with, or expressed in, OA in humans. This suggested that the canine model could provide a unique opportunity to identify genes underlying natural HD and hip OA, which are common and debilitating conditions in both dogs and humans.

  4. Thanatophoric dysplasia: Antenatal to postmortem

    Directory of Open Access Journals (Sweden)

    Chanabasappa V Chavadi

    2015-01-01

    Full Text Available Thanatophoric dwarfism (TD, literally meaning death seeking dwarf, is the most common form of lethal bone dysplasia characterized by severe micromelia, extra folds of skin and narrow chest. Other signs include small ribs, underdeveloped lungs, cloverleaf skull, hypertelorism and protuberant abdomen. A short neck, depressed nasal bridge and hypoplastic mandible may also be present. Hydrocephalus is uncommon but is another poor prognostic sign. The diagnosis is usually made with the ultrasonography in the second trimester. Based on the morphological characters, this condition is sub-divided into type 1 and type 2. Fetuses with this condition are either still-born or die shortly after birth. Antenatal sonographic, postpartum radiological and autopsy findings of a case of type 1 TD with a relatively uncommon association of hydrocephalus is discussed.

  5. Ectodermal Dysplasia Skin Fragility Syndrome

    Directory of Open Access Journals (Sweden)

    Ayça Alan Atalay

    2014-06-01

    Full Text Available Ectodermal dysplasia-skin fragility syndrome (EDSFS is a rare autosomal recessive genodermatosis first described in 1997 by Mc Grath. EDSFS results from loss of function mutations in plakophilin-1 (PKP1. PKP1 is a structural component of desmosomes, cellcell adhesion complexes. It is also found as a nuclear protein in several cell types that are lack of desmosomes. In skin, however, PKP1 expression is confined mainly to suprabasal keratinocytes and the outer root sheath of hair follicules. Loss of function mutation in PKP1 leads to extensive skin fragility, bullae and erosions following minor trauma, focal keratoderma with painful fissures, alopecia, and nail dystrophy. In some patients hypohidrosis may also be seen. EDSFS is now considered as a specific suprabasal form of epidermolysis bullosa simplex. In this report we describe a 20 year old EDSFS case.

  6. Camptomelic dysplasia: A case report

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    Koš Radmila

    2007-01-01

    Full Text Available Campomelic/camptomelic dysplasia is a very rare, severe osteochondrodysplasia characterised by severe skeletal and nonskeletal malformations and lethal outcome mainly in neonatal period. Characteristic abnormality by which the syndrome got its name is short, bowed long bones of lower extremities, most often of femur, manifested by short and bowed legs. Skin dimpling on tibial anterior side is another prominent characteristic of this syndrome. Severe cases are inherited by autosomal dominant trait, by mutation Sox9 gene on chromosome 17, with lethal outcome in the first days of life. Less severe forms of the disease are due to balanced translocation t (13;17 with life span up to the third decade of life. A majority of karyotypic males present as phenotypic females. We report a case of a female neonate, without consanguinity between parents, with characteristic signs of camptomelic dysplasia with short birth length of 46 cm, macrocephaly (head circumference 39 cm, dolichocephaly, hydrocephalus, short trunk and legs. Narrow rib cage, bowed lower extremities, short hand and foot phalanges, nail hypoplasia were noticed. Anterior fontanelle was enlarged, high forehead, face small and flat, hypertelorism, low nasal bridge, micrognathia, low set ears, cleft palate, were found. Characteristic skin dimpling on anterior side of tibia was present on both legs. Bone X-ray studies presented the following changes: anterior bowing of shortened femurs, hip dislocation, cervical vertebrae, scapulas, eleven pairs of slender ribs. Hip luxation. Karyotype was normal for a female, 46 XX. Respiratory insufficiency was present since birth, exacerbated, and led to lethal outcome in the second day of life, as described in the majority of these patients. .

  7. Acro-mesomelic dysplasia - a new type

    International Nuclear Information System (INIS)

    Brahimi, L.; Bacha, L.; Kozlowski, K.; Massen, R.; Zenati, M.

    1988-01-01

    Two siblings who represent a new type of acro-mesomelic dysplasia are reported. The unique pattern of the acro-mesomelic hypoplastic/dysplastic changes allows us to designate as a new syndrome. (orig.)

  8. Andhidrotic ectodermal dysplasia-autosomal recessive form

    Directory of Open Access Journals (Sweden)

    Inamadar Arun

    1994-01-01

    Full Text Available Anhidrotic ectodermal dysplasia with classical features in 2 sisters is reported. The mode of inheritance in these seems to be autosomal recessive; which is a very rare occurrence.

  9. CT Imaging of Craniofacial Fibrous Dysplasia

    Directory of Open Access Journals (Sweden)

    Zerrin Unal Erzurumlu

    2015-01-01

    Full Text Available Fibrous dysplasia is a benign fibroosseous bone dysplasia that can involve single (monostotic or multiple (polyostotic bones. Monostotic form is more frequent in the jaws. It is termed as craniofacial fibrous dysplasia, when it involves, though rarely, adjacent craniofacial bones. A 16-year-old girl consulted for a painless swelling in the right posterior mandible for two years. Panoramic radiography revealed ground-glass ill-defined lesions in the three different regions of the maxilla and mandible. Axial CT scan (bone window showed multiple lesions involving skull base and facial bones. Despite lesions in the skull base, the patient had no abnormal neurological findings. The lesion was diagnosed as fibrous dysplasia based on radiological and histopathological examination. In this paper, CT findings and differential diagnosis of CFD are discussed. CT is a useful imaging technique for CFD cases.

  10. Bilateral anophthalmia with septo-optic dysplasia

    Directory of Open Access Journals (Sweden)

    Manisha Jana

    2010-01-01

    Full Text Available Bilateral anophthalmia is a rare entity and association with septo-optic dysplasia is an even rare condition. The condition is characterized by absent eyeballs in the presence of eyelids, conjunctiva or lacrimal apparatus. Though anophthalmia can be diagnosed clinically, imaging plays a crucial role in delineating the associated anomalies. In addition, often clinical anophthalmia may prove to be severe microphthalmia on imaging. We describe the imaging findings in an infant with bilateral anophthalmia and septo-optic dysplasia.

  11. Renal dysplasia in a Rhodesian Ridgeback dog

    International Nuclear Information System (INIS)

    Lobetti, R.G.; Pearson, J.; Jimenez, M.

    1996-01-01

    A six-month-old Rhodesian ridgeback dog was presented for evaluation of facial swelling. Chronic renal failure was clinically diagnosed based on urinalysis, biochemical changes and ultrasonography. The facial swelling was due to fibrous osteodystrophy, which was evident on survey radiographs of the skull. On post mortem examination, chronic renal failure as a result of renal dysplasia was confirmed. This is the first reported case of renal dysplasia in this breed of dog

  12. Hip dysplasia and congenital hip dislocation

    Energy Technology Data Exchange (ETDEWEB)

    Lingg, G.; Nebel, G.; von Torklus, D.

    1981-11-01

    In human genetics and orthopedics quite different answers have been given to the question of hereditary transmission and frequency of hip dysplasia in families of children with congenital hip dislocation. We therefore have made roentgenometric measurements of 110 parents of children with congenital hip dislocation. In 25% we found abnormal flat acetabulae, whereas 12% had pathologic deep hips. This may propose a new concept of morphology of congenital hip dysplasia.

  13. Dysplasia epiphysealis hemimelica of the tibial tubercle

    Energy Technology Data Exchange (ETDEWEB)

    Thacker, M.M.; Scully, S.P.; Pitcher, J.D.; Temple, H. Thomas [University of Miami, Department of Orthopedics and Rehabilitation, FL (United States); Azouz, E.M. [University of Miami, Department of Radiology, FL (United States)

    2006-03-15

    Dysplasia epiphysealis hemimelica (DEH) is a rare skeletal dysplasia with epiphyseal involvement first described by Mouchet and Belot in 1926. Lower extremity involvement is common and might involve a single or multiple epiphyses in the affected extremity. We report an unusual case of involvement of the tibial tubercle in a girl aged 4 years 8 months, and we present the clinical, radiographic and pathologic findings. We discuss the role of MRI in the diagnosis and treatment plan. (orig.)

  14. Vaginal prolapse with urinary bladder incarceration and consecutive irreducible rectal prolapse in a dog.

    Science.gov (United States)

    Ober, Ciprian-Andrei; Peștean, Cosmin Petru; Bel, Lucia Victoria; Taulescu, Marian; Cătoi, Cornel; Bogdan, Sidonia; Milgram, Joshua; Schwarz, Guenter; Oana, Liviu Ioan

    2016-09-22

    True vaginal prolapse is a rare condition in dogs and it is occasionally observed in animals with constipation, dystocia, or forced separation during breeding. If a true prolapse occurs, the bladder, the uterine body and/or distal part of the colon, may be present in the prolapse. A 2-year-old intact non pregnant Central Asian Shepherd dog in moderate condition, was presented for a true vaginal and rectal prolapse. The prolapses were confirmed by physical examination and ultrasonography. Herniation of the urinary bladder was identified within the vaginal prolapse. The necrotic vaginal wall was resected, the urinary bladder was reduced surgically and fixed to the right abdominal wall to prevent recurrence. Rectal resection and anastomosis was necessary to correct the rectal prolapse. Recurrence of the prolapses was not observed and the dog recovered completely after the surgical treatment. In our opinion, extreme tenesmus arising from constipation may have predisposed to the vaginal prolapse with bladder incarceration and secondarily to rectal prolapse. In the young female dog, true vaginal prolapse with secondary involvement of the urinary bladder and irreducible rectal prolapse is an exceptionally rare condition.

  15. Two-particle irreducible effective actions versus resummation: Analytic properties and self-consistency

    Directory of Open Access Journals (Sweden)

    Michael Brown

    2015-11-01

    Full Text Available Approximations based on two-particle irreducible (2PI effective actions (also known as Φ-derivable, Cornwall–Jackiw–Tomboulis or Luttinger–Ward functionals depending on context have been widely used in condensed matter and non-equilibrium quantum/statistical field theory because this formalism gives a robust, self-consistent, non-perturbative and systematically improvable approach which avoids problems with secular time evolution. The strengths of 2PI approximations are often described in terms of a selective resummation of Feynman diagrams to infinite order. However, the Feynman diagram series is asymptotic and summation is at best a dangerous procedure. Here we show that, at least in the context of a toy model where exact results are available, the true strength of 2PI approximations derives from their self-consistency rather than any resummation. This self-consistency allows truncated 2PI approximations to capture the branch points of physical amplitudes where adjustments of coupling constants can trigger an instability of the vacuum. This, in effect, turns Dyson's argument for the failure of perturbation theory on its head. As a result we find that 2PI approximations perform better than Padé approximation and are competitive with Borel–Padé resummation. Finally, we introduce a hybrid 2PI–Padé method.

  16. Irreducible Greens' Functions method in the theory of highly correlated systems

    International Nuclear Information System (INIS)

    Kuzemsky, A.L.

    1994-09-01

    The self-consistent theory of the correlation effects in Highly Correlated Systems (HCS) is presented. The novel Irreducible Green's Function (IGF) method is discussed in detail for the Hubbard model and random Hubbard model. The interpolation solution for the quasiparticle spectrum, which is valid for both the atomic and band limit is obtained. The (IGF) method permits to calculate the quasiparticle spectra of many-particle systems with the complicated spectra and strong interaction in a very natural and compact way. The essence of the method deeply related to the notion of the Generalized Mean Fields (GMF), which determine the elastic scattering corrections. The inelastic scattering corrections leads to the damping of the quasiparticles and are the main topic of the present consideration. The calculation of the damping has been done in a self-consistent way for both limits. For the random Hubbard model the weak coupling case has been considered and the self-energy operator has been calculated using the combination of the IGF method and Coherent Potential Approximation (CPA). The other applications of the method to the s-f model, Anderson model, Heisenberg antiferromagnet, electron-phonon interaction models and quasiparticle tunneling are discussed briefly. (author). 79 refs

  17. Undecidability and Irreducibility Conditions for Open-Ended Evolution and Emergence.

    Science.gov (United States)

    Hernández-Orozco, Santiago; Hernández-Quiroz, Francisco; Zenil, Hector

    2018-01-01

    Is undecidability a requirement for open-ended evolution (OEE)? Using methods derived from algorithmic complexity theory, we propose robust computational definitions of open-ended evolution and the adaptability of computable dynamical systems. Within this framework, we show that decidability imposes absolute limits on the stable growth of complexity in computable dynamical systems. Conversely, systems that exhibit (strong) open-ended evolution must be undecidable, establishing undecidability as a requirement for such systems. Complexity is assessed in terms of three measures: sophistication, coarse sophistication, and busy beaver logical depth. These three complexity measures assign low complexity values to random (incompressible) objects. As time grows, the stated complexity measures allow for the existence of complex states during the evolution of a computable dynamical system. We show, however, that finding these states involves undecidable computations. We conjecture that for similar complexity measures that assign low complexity values, decidability imposes comparable limits on the stable growth of complexity, and that such behavior is necessary for nontrivial evolutionary systems. We show that the undecidability of adapted states imposes novel and unpredictable behavior on the individuals or populations being modeled. Such behavior is irreducible. Finally, we offer an example of a system, first proposed by Chaitin, that exhibits strong OEE.

  18. Irreducible kernels and nonperturbative expansions in a theory with pure m -> m interaction

    International Nuclear Information System (INIS)

    Iagolnitzer, D.

    1983-01-01

    Recent results on the structure of the S matrix at the m-particle threshold (m>=2) in a simplified m->m scattering theory with no subchannel interaction are extended to the Green function F on the basis of off-shell unitarity, through an adequate mathematical extension of some results of Fredholm theory: local two-sheeted or infinite-sheeted structure of F around s=(mμ) 2 depending on the parity of (m-1) (ν-1) (where μ>0 is the mass and ν is the dimension of space-time), off-shell definition of the irreducible kernel U [which is the analogue of the K matrix in the two different parity cases (m-1)(ν-1) odd or even] and related local expansion of F, for (m-1)(ν-1) even, in powers of sigmasup(β)lnsigma(sigma=(mμ) 2 -s). It is shown that each term in this expansion is the dominant contribution to a Feynman-type integral in which each vertex is a kernel U. The links between kernel U and Bethe-Salpeter type kernels G of the theory are exhibited in both parity cases, as also the links between the above expansion of F and local expansions, in the Bethe-Salpeter type framework, of Fsub(lambda) in terms of Feynman-type integrals in which each vertex is a kernel G and which include both dominant and subdominant contributions. (orig.)

  19. Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

    NARCIS (Netherlands)

    Morstert, AK; Dijkstra, PF; van Horn, [No Value; Jansen, BRH; Heutink, P; Lindhout, D

    Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959 [1], is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84

  20. A generalized Wigner function on the space of irreducible representations of the Weyl-Heisenberg group and its transformation properties

    International Nuclear Information System (INIS)

    Ibort, A; Man'ko, V I; Marmo, G; Simoni, A; Ventriglia, F

    2009-01-01

    A natural extension of the Wigner function to the space of irreducible unitary representations of the Weyl-Heisenberg group is discussed. The action of the automorphisms group of the Weyl-Heisenberg group onto Wigner functions and their generalizations and onto symplectic tomograms is elucidated. Some examples of physical systems are considered to illustrate some aspects of the characterization of the Wigner functions as solutions of differential equations

  1. Septo-optic dysplasia plus: clinical presentation and magnetic resonance imaging findings

    International Nuclear Information System (INIS)

    Matushita Junior, Joao Paulo K.; Tiel, Chan; Py, Marco; Batista, Raquel Ribeiro; Gasparetto, Emerson L.

    2010-01-01

    Septo-optic dysplasia (SOD) is a heterogeneous developmental malformation characterized by optic nerve hypoplasia associated with dysgenesis of the septum pellucidum and other cerebral malformations. The clinical manifestations include psychomotor retardation, visual impairment, thermoregulatory disturbances, conjugated hyperbilirubinemia and seizures. In 2000, Miller et al. first named the association of SOD and cortical dysplasia as SOD-plus. In this report, all the cases had severe clinical impairment, presenting global developmental delay and spastic motor deficits. Subsequent reports of SOD-plus also stressed the psychomotor development delay, spastic motor deficits and seizures seen in these patients, emphasizing the severity of the brain involvement. Recently, Kwak et al. reported a case of SOD-plus presenting with cortical dysplasia involving the insular cortex bilaterally. However, differently from all the previous reports, the patient had no signs or symptoms of cortical dysfunction, except for one episode of seizure. We report an additional case of SOD-plus, which presented extensive cortical malformation, with no signs or symptoms of cortical dysfunction. We suggest that similar to the classical form of SOD, the clinical presentation in patients with SOD-plus can also range from mild to extremely severe. (author)

  2. Septo-optic dysplasia plus: clinical presentation and magnetic resonance imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Matushita Junior, Joao Paulo K. [Instituto de Pos-Graduacao Medica Carlos Chagas (IPGMCC), Rio de Janeiro, RJ (Brazil); Tiel, Chan; Py, Marco [Universidade Federal do Rio de Janeiro (UFRJ), RJ (Brazil). Inst. de Neurologia Deolindo Couto; Batista, Raquel Ribeiro [Universidade Federal do Rio de Janeiro (UFRJ), RJ (Brazil). Hospital Universitario Clementino Fraga Filho; Gasparetto, Emerson L., E-mail: egasparetto@gmail.co [Universidade Federal do Rio de Janeiro (UFRJ), RJ (Brazil). Dept. de Radiologia

    2010-04-15

    Septo-optic dysplasia (SOD) is a heterogeneous developmental malformation characterized by optic nerve hypoplasia associated with dysgenesis of the septum pellucidum and other cerebral malformations. The clinical manifestations include psychomotor retardation, visual impairment, thermoregulatory disturbances, conjugated hyperbilirubinemia and seizures. In 2000, Miller et al. first named the association of SOD and cortical dysplasia as SOD-plus. In this report, all the cases had severe clinical impairment, presenting global developmental delay and spastic motor deficits. Subsequent reports of SOD-plus also stressed the psychomotor development delay, spastic motor deficits and seizures seen in these patients, emphasizing the severity of the brain involvement. Recently, Kwak et al. reported a case of SOD-plus presenting with cortical dysplasia involving the insular cortex bilaterally. However, differently from all the previous reports, the patient had no signs or symptoms of cortical dysfunction, except for one episode of seizure. We report an additional case of SOD-plus, which presented extensive cortical malformation, with no signs or symptoms of cortical dysfunction. We suggest that similar to the classical form of SOD, the clinical presentation in patients with SOD-plus can also range from mild to extremely severe. (author)

  3. Expansive focal cemento-osseous dysplasia.

    Science.gov (United States)

    Bulut, Emel Uzun; Acikgoz, Aydan; Ozan, Bora; Zengin, Ayse Zeynep; Gunhan, Omer

    2012-01-01

    To present a case of expansive focal cemento-osseous dysplasia and emphasize the importance of differential diagnosis. Cemento-osseous dysplasia is categorized into three subtypes on the basis of the clinical and radiographic features: Periapical, focal and florid. The focal type exhibits a single site of involvement in any tooth-bearing or edentulous area of the jaws. These lesions are usually asymptomatic; therefore, they are frequently diagnosed incidentally during routine radiographic examinations. Lesions are usually benign, show limited growth, and do not require further surgical intervention, but periodic follow-up is recommended because occasionally, this type of dysplasia progresses into florid osseous dysplasia and simple bone cysts are formed. A 24-year-old female patient was referred to our clinic for swelling in the left edentulous mandibular premolarmolar region and felt discomfort when she wore her prosthetics. She had no pain, tenderness or paresthesia. Clinical examination showed that the swelling in the posterior mandible that was firm, nonfluctuant and covered by normal mucosa. On panoramic radiography and computed tomography, a well defined lesion of approximately 1.5 cm in diameter of mixed density was observed. The swelling increased slightly in size over 2 years making it difficult to use prosthetics and, therefore, the lesion was totally excised under local anesthesia, and surgical specimens were submitted for histopathological examination. The histopathological diagnosis was focal cemento-osseous dysplasia. In the present case, because of the increasing size of the swelling making it difficult to use prosthetics, young age of the patient and localization of the lesion, in the initial examination, cemento-ossifying fibroma was suspected, and the lesion was excised surgically; the histopathological diagnosis confirmed it as focal cemento-osseous dysplasia. We present a case of expansive focal cemento-osseous dysplasia. Differential diagnosis

  4. Irreducible Brillouin conditions and contracted Schroedinger equations for n-electron systems. IV. Perturbative analysis

    International Nuclear Information System (INIS)

    Kutzelnigg, Werner; Mukherjee, Debashis

    2004-01-01

    The k-particle irreducible Brillouin conditions IBC k and the k-particle irreducible contracted Schroedinger equations ICSE k for a closed-shell state are analyzed in terms of a Moeller-Plesset-type perturbation expansion. The zeroth order is Hartree-Fock. From the IBC 2 (1) , i.e., from the two-particle IBC to first order in the perturbation parameter μ, one gets the leading correction λ 2 (1) to the two-particle cumulant λ 2 correctly. However, in order to construct the second-order energy E 2 , one also needs the second-order diagonal correction γ D (2) to the one-particle density matrix γ. This can be obtained: (i) from the idempotency of the n-particle density matrix, i.e., essentially from the requirement of n-representability; (ii) from the ICSE 1 (2) ; or (iii) by means of perturbation theory via a unitary transformation in Fock space. Method (ii) is very unsatisfactory, because one must first solve the ICSE 3 (2) to get λ 3 (2) , which is needed in the ICSE 2 (2) to get λ 2 (2) , which, in turn, is needed in the ICSE 1 (2) to get γ (2) . Generally the (k+1)-particle approximation is needed to obtain E k correctly. One gains something, if one replaces the standard hierarchy, in which one solves the ICSE k , ignoring λ k+1 and λ k+2 , by a renormalized hierarchy, in which only λ k+2 is ignored, and λ k+1 is expressed in terms of the λ p of lower particle rank via the partial trace relation for λ k+2 . Then the k-particle approximation is needed to obtain E k correctly. This is still poorer than coupled-cluster theory, where the k-particle approximation yields E k+1 . We also study the possibility to use some simple necessary n-representability conditions, based on the non-negativity of γ (2) and two related matrices, in order to get estimates for γ D (2) in terms of λ 2 (1) . In general these estimates are rather weak, but they can become close to the best possible bounds in special situations characterized by a very sparse structure of λ 2

  5. A Case of Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate Syndrome Associated with Hydrocephaly

    Directory of Open Access Journals (Sweden)

    Buket Uysal Aladag

    2013-06-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, cleft lip, and palate syndrome (EEC is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia and orofacial clefts (cleft lip/ palate. A few cases have been reported in literature. The cardinal components of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate, and abnormalities ectodermal structures including skin (i.e. hypopigmented and dry skin, hyperkeratosis, skin atrophy, hair (sparse hair and eye brows, teeth (small, absent or dysplastic teeth, nails (nail dystrophy and exocrine glands (reduction/ absence of sweat, sebaceous and salivary glands. A multidisciplinary approach for treatment is needed which is co-ordinated by orthopedic, plastic, dental surgeons, ophthalmologist, dermatologists and speech therapists, psychologists. We presented EEC syndrome case with hydrocephaly by the literature. [Cukurova Med J 2013; 38(3.000: 531-535

  6. Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing.

    Science.gov (United States)

    Mathur, Deepan; Somashekar, Santhosh; Navarrete, Cristina; Rodriguez, Maria M

    2014-08-01

    Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene.

  7. UN PROGRAMA PARA CALCULAR LAS REPRESENTACIONES IRREDUCIBLES DE SN, EN LA FORMA SEMINORMAL DE YOUNG 1 MATEMÁTICA COMPUTACIONAL COMO APOYO A LA DOCENCIA

    Directory of Open Access Journals (Sweden)

    Álvaro Duque S.J.

    2002-06-01

    Full Text Available Las matrices de las representaciones irreducibles de un grupo G se usan para el cómputo de la Transformada Generalizada de Fourier de una función definida en G. Existen muchas otras aplicaciones para las representaciones irreducibles de un grupo. Nosotros elaborarnos un software que calcula las matrices de las representacionesirreducibles del grupo simétrico en la forma serninormal de Young. Este programa corre en el Sistema Algebraico Computacional CoCoA.

  8. Progressive pseudorheumatoid dysplasia in North and West Africa ...

    African Journals Online (AJOL)

    Progressive pseudorheumatoid dysplasia is a rare autosomal recessive spondyloepiphyseal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Short stature, joint contractures, gait disturbance, and scoliosis and/or ...

  9. Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion.

    Science.gov (United States)

    Ogul, Hayri; Keskin, Emine

    2018-05-01

    Fibrous dysplasia is an unusual benign bone tumor. It is divided into 3 groups as monostotic, polyostotic, and craniofacial form. The authors reported an unusual patient with fibrous dysplasia with an aggressive radiologic appearance.

  10. Spondylometaepiphyseal dysplasia in a mother and her child

    Energy Technology Data Exchange (ETDEWEB)

    Pettersson, H; Nilsson, K O [Section of Pediatric Radiology, Department of Diagnostic Radiology, and the Department of Pediatrics, Malmoe Allmaenna Sjukhus, Malmoe, Sweden

    1979-01-01

    Variant types of spondylometaepiphyseal dysplasia in a mother and her child is reported. Several stages of the disorder are presented, demonstrating the principal difficulties in distinguishing variant types of skeletal dysplasia.

  11. Ectodermal dysplasia associated with sickle cell disease.

    Science.gov (United States)

    Volpato, Luiz Evaristo Ricci; Volpato, Maria Carmen Palma Faria; de Carvalhosa, Artur Aburad; Palma, Vinicius Canavarros; Borges, Alvaro Henrique

    2014-01-01

    Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.

  12. Ectodermal Dysplasia Associated with Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Luiz Evaristo Ricci Volpato

    2014-01-01

    Full Text Available Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.

  13. Adamantinoma, osteofibrous dysplasia and differentiated adamantinoma

    International Nuclear Information System (INIS)

    Kahn, Leonard B.

    2003-01-01

    For just over 100 years, adamantinoma has been recognized as a primary bone tumor with epithelial characteristics and predominantly involving the tibia. Osteofibrous dysplasia is a fibro-osseous lesion also predominantly confined to the tibia with radiologic features similar to those of adamantinoma. This lesion has been shown by immunohistochemical studies to frequently contain cytokeratin-positive epithelial cells. More recently, a third group of cases with clinical and radiologic features similar to those of osteofibrous dysplasia have demonstrated more overt strands of epithelial cells within a fibro-osseous background and have been categorized as ''differentiated'', ''regressive'', ''juvenile intracortical'' or ''osteofibrous dysplasia-like'' adamantinoma. Cytokeratin subset immunohistochemical stains and cytogenetic studies performed in recent years suggest a common histogenesis for these three entities. This article reviews the clinical, radiologic and pathologic features of these entities as well as their prognostic significance. It also reviews the results of the immunohistochemical and cytogenetic studies which establish a common histogenetic relationship. (orig.)

  14. Variable manifestations of dysplasia epiphysealis hemimelica

    Energy Technology Data Exchange (ETDEWEB)

    Azouz, E.M.; Slomic, A.M.; Marton, D.; Rigault, P.; Finidori, G.

    1985-01-01

    Dysplasia epiphysealis hemimelica (DEH) is an osteocartilaginous overgrowth involving one or multiple epiphyses or ossification centers, usually in a lower extremity on one side of the body. Characteristically the involvement is hemimelic, i.e., either the medial or lateral part of the ossification center is involved. The authors have studied 24 patients with DEH and are adding 15 new cases to the literature. Because of the variable manifestations of the dysplasia and its different degrees of involvement in the affected children, they have subdivided it into localized, classical and generalized. In the generalized form, there is involvement of a whole lower extremity from the pelvis to the foot, and some of these patients show megaepiphyses with enlargement of a whole epiphyseal center, not only its medial or lateral part. The authors have also described and illustrated other special features of the dysplasia especially the advanced bone age and the metaphyseal and growth plate involvement.

  15. Lung volume reduction surgery in bronchopulmonary dysplasia.

    Science.gov (United States)

    Siaplaouras, J; Heckmann, M; Reiss, I; Schaible, T; Waag, K L; Gortner, L

    2003-06-01

    We report on a female preterm infant of 29 wk gestational age, who developed acquired lobar emphysema after prolonged artificial ventilation secondary to respiratory disease syndrome and bronchopulmonary dysplasia. The infant underwent atypical segmentectomy at the age of 12 mo because of life-threatening hypoxaemia with pulmonary hypertension and failure of conservative treatment. Lung volume reduction surgery (LVRS) dramatically improved the respiratory function and resulted in adequate weight gain and psychomotor development. In selected cases LVRS can be an option for lobar emphysema in premature infants with severe bronchopulmonary dysplasia.

  16. Rasmussen's encephalitis presenting as focal cortical dysplasia

    Directory of Open Access Journals (Sweden)

    D.J. O'Rourke

    2014-01-01

    Full Text Available Rasmussen's encephalitis is a rare syndrome characterized by intractable seizures, often associated with epilepsia partialis continua and symptoms of progressive hemispheric dysfunction. Seizures are usually the hallmark of presentation, but antiepileptic drug treatment fails in most patients and is ineffective against epilepsia partialis continua, which often requires surgical intervention. Co-occurrence of focal cortical dysplasia has only rarely been described and may have implications regarding pathophysiology and management. We describe a rare case of dual pathology of Rasmussen's encephalitis presenting as a focal cortical dysplasia (FCD and discuss the literature on this topic.

  17. Rasmussen's encephalitis presenting as focal cortical dysplasia

    Science.gov (United States)

    O'Rourke, D.J.; Bergin, A.; Rotenberg, A.; Peters, J.; Gorman, M.; Poduri, A.; Cryan, J.; Lidov, H.; Madsen, J.; Harini, C.

    2014-01-01

    Rasmussen's encephalitis is a rare syndrome characterized by intractable seizures, often associated with epilepsia partialis continua and symptoms of progressive hemispheric dysfunction. Seizures are usually the hallmark of presentation, but antiepileptic drug treatment fails in most patients and is ineffective against epilepsia partialis continua, which often requires surgical intervention. Co-occurrence of focal cortical dysplasia has only rarely been described and may have implications regarding pathophysiology and management. We describe a rare case of dual pathology of Rasmussen's encephalitis presenting as a focal cortical dysplasia (FCD) and discuss the literature on this topic. PMID:25667877

  18. Sponastrime dysplasia. A radiologic-pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Lachman, R S; Stoss, H; Spranger, J

    1989-07-01

    The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.).

  19. Sponastrime dysplasia. A radiologic-pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Lachman, R.S.; Stoss, H.; Spranger, J.

    1989-07-01

    The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.).

  20. Occipital projections in the skeletal dysplasias

    International Nuclear Information System (INIS)

    Takamine, Yuji; Field, Fiona M.; Lachman, Ralph S.; Rimoin, David L.

    2004-01-01

    Occipital projections of the cranium have been reported in a number of skeletal dysplasias and syndromes. We observed two cases of atelosteogenesis type I with a bony occipital projection. This finding has neither been noted nor reported in any form of atelosteogenesis. This led us to search the International Skeletal Dysplasia Registry for occipital projections, and we found them in four other syndromes in which they had not been reported. Thus occipital spurs are a non-diagnostic feature that can be found in at least ten distinct disorders as well as a normal variant. (orig.)

  1. Diagnosis, prevention, and management of canine hip dysplasia: a review

    Directory of Open Access Journals (Sweden)

    Schachner ER

    2015-05-01

    Full Text Available Emma R Schachner, Mandi J Lopez Department of Veterinary Clinical Sciences, School of Veterinary Medicine, Louisiana State University, Baton Rouge, LA, USA Abstract: Canine hip dysplasia (CHD is a polygenic and multifactorial developmental disorder characterized by coxofemoral (hip joint laxity, degeneration, and osteoarthritis (OA. Current diagnostic techniques are largely subjective measures of joint conformation performed at different stages of development. Recently, measures on three-dimensional images generated from computed tomography scans predicted the development of OA associated with CHD. Continued refinement of similar imaging methods may improve diagnostic imaging techniques to identify dogs predisposed to degenerative hip joint changes. By current consensus, joint changes consistent with CHD are influenced by genetic predisposition as well as environmental and biomechanical factors; however, despite decades of work, the relative contributions of each to the development and extent of CHD signs remain elusive. Similarly, despite considerable effort to decipher the genetic underpinnings of CHD for selective breeding programs, relevant genetic loci remain equivocal. As such, prevention of CHD within domestic canine populations is marginally successful. Conservative management is often employed to manage signs of CHD, with lifelong maintenance of body mass as one of the most promising methods. Surgical intervention is often employed to prevent joint changes or restore joint function, but there are no gold standards for either goal. To date, all CHD phenotypes are considered as a single entity in spite of recognized differences in expression and response to environmental conditions and treatment. Identification of distinct CHD phenotypes and targeting evidence-based conservative and invasive treatments for each may significantly advance prevention and management of a prevalent, debilitating condition in canine companions. Keywords: canine

  2. Reliability of radiographic parameters in adults with hip dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Terjesen, Terje [Oslo University Hospital, Rikshospitalet, Department of Orthopaedics, Oslo (Norway); Gunderson, Ragnhild B. [Oslo University Hospital, Rikshospitalet, Department of Radiology, Oslo (Norway)

    2012-07-15

    To assess the reliability of radiographic measurements in adults previously treated for developmental dysplasia of the hip (DDH) and to clarify whether these parameters differ according to position of the patient (supine versus standing). Fifty-one patients (41 females and 10 males) with 63 affected hips were included in the study. The mean follow-up period was 45 (44-49) years in the patients who had not undergone total hip replacement (THR). Anteroposterior radiographs of the pelvis were taken with the patient in the supine and in the standing position. Measurements used for residual hip dysplasia were center-edge (CE) angle and migration percentage (MP). The joint space width (JSW) was measured at three or four locations of the upper, weight-bearing part of the joint, and the shortest distance was termed the minimum joint space width (minJSW). One radiologist and one orthopaedic surgeon, each with more than 30 years of experience, independently measured the radiographic parameters. The limits of agreement (LOA) of the CE angle (mean interobserver difference {+-} 2SD) were within the range -8 to 7 . The LOA of the MP were in the range -8 to 8% and of the minJSW -0.6 to 1.1 mm. The mean differences in CE angle between supine and standing radiographs (supine - standing) ranged from -1.1 to 0.0 and the mean differences in MP between supine and standing positions were below 1%. The mean positional differences in minJSW were below 0.1 mm and were not statistically significant. The interobserver variations with regard to CE angle, MP, and minJSW were moderate, indicating that these are reliable measurements in clinical practice. Femoral head coverage and JSW did not significantly differ between supine and weight-bearing positions. (orig.)

  3. The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain

    Directory of Open Access Journals (Sweden)

    Groza Tudor

    2012-03-01

    Full Text Available Abstract Background Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological complications. Because the data and expertise associated with this field is both sparse and disparate, significant benefits will potentially accrue from the availability of an ontology that provides a shared conceptualisation of the domain knowledge and enables data integration, cross-referencing and advanced reasoning across the relevant but distributed data sources. Results We introduce the design considerations and implementation details of the Bone Dysplasia Ontology. We also describe the different components of the ontology, including a comprehensive and formal representation of the skeletal dysplasia domain as well as the related genotypes and phenotypes. We then briefly describe SKELETOME, a community-driven knowledge curation platform that is underpinned by the Bone Dysplasia Ontology. SKELETOME enables domain experts to use, refine and extend and apply the ontology without any prior ontology engineering experience--to advance the body of knowledge in the skeletal dysplasia field. Conclusions The Bone Dysplasia Ontology represents the most comprehensive structured knowledge source for the skeletal dysplasias domain. It provides the means for integrating and annotating clinical and research data, not only at the generic domain knowledge level, but also at the level of individual patient case studies. It enables links between individual cases and publicly available genotype and phenotype resources based on a community-driven curation process that ensures a shared conceptualisation of the domain knowledge and its continuous incremental evolution.

  4. Radiographic Underestimation of In Vivo Cup Coverage Provided by Total Hip Arthroplasty for Dysplasia.

    Science.gov (United States)

    Nie, Yong; Wang, HaoYang; Huang, ZeYu; Shen, Bin; Kraus, Virginia Byers; Zhou, Zongke

    2018-01-01

    The accuracy of using 2-dimensional anteroposterior pelvic radiography to assess acetabular cup coverage among patients with developmental dysplasia of the hip after total hip arthroplasty (THA) remains unclear in retrospective clinical studies. A group of 20 patients with developmental dysplasia of the hip (20 hips) underwent cementless THA. During surgery but after acetabular reconstruction, bone wax was pressed onto the uncovered surface of the acetabular cup. A surface model of the bone wax was generated with 3-dimensional scanning. The percentage of the acetabular cup that was covered by intact host acetabular bone in vivo was calculated with modeling software. Acetabular cup coverage also was determined from a postoperative supine anteroposterior pelvic radiograph. The height of the hip center (distance from the center of the femoral head perpendicular to the inter-teardrop line) also was determined from radiographs. Radiographic cup coverage was a mean of 6.93% (SD, 2.47%) lower than in vivo cup coverage for these 20 patients with developmental dysplasia of the hip (Pcup coverage (Pearson r=0.761, Pcup (P=.001) but not the position of the hip center (high vs normal) was significantly associated with the difference between radiographic and in vivo cup coverage. Two-dimensional radiographically determined cup coverage conservatively reflects in vivo cup coverage and remains an important index (taking 7% underestimation errors and the effect of greater underestimation of larger cup size into account) for assessing the stability of the cup and monitoring for adequate ingrowth of bone. [Orthopedics. 2018; 41(1):e46-e51.]. Copyright 2017, SLACK Incorporated.

  5. Quantum trigonometric Calogero-Sutherland model, irreducible characters and Clebsch-Gordan series for the exceptional algebra E7

    International Nuclear Information System (INIS)

    Fernandez Nunez, J.; Garcia Fuertes, W.; Perelomov, A.M.

    2005-01-01

    We reexpress the quantum Calogero-Sutherland model for the Lie algebra E 7 and the particular value of the coupling constant κ=1 by using the fundamental irreducible characters of the algebra as dynamical variables. For that, we need to develop a systematic procedure to obtain all the Clebsch-Gordan series required to perform the change of variables. We describe how the resulting quantum Hamiltonian operator can be used to compute more characters and Clebsch-Gordan series for this exceptional algebra

  6. Simplified Classification of Focal Cortical Dysplasia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-09-01

    Full Text Available Sections of cortex from 52 of 224 (23% patients with cortical dysplasia, operated on for drug-resistant partial epilepsy, were retrospectively re-examined histologically at Niguarda Hospital, and Istituto Nazionale Neurologico ‘C. Besta’, Milan, Italy.

  7. Ceramide profile in hypohidrotic ectodermal dysplasia

    DEFF Research Database (Denmark)

    Jungersted, J. M.; Høgh, Julie Kaae; Hellgren, Lars

    2012-01-01

    Background. Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disease. The clinical presentation includes lack of sweating ability, and an often widely spread dermatitis resembling atopic dermatitis (AD). In AD, the skin‐barrier defect is partly ascribed to the altered lipid profile...

  8. Total hip reconstruction in acetabular dysplasia.

    NARCIS (Netherlands)

    Schller, H.M.; Dalstra, M.; Huiskes, R.; Marti, R.K.

    1993-01-01

    In acetabular dysplasia, fixation of the acetabular component of a cemented total hip prosthesis may be insecure and superolateral bone grafts are often used to augment the acetabular roof. We used finite element analysis to study the mechanical importance of the lateral acetabular roof and found

  9. The patellofemoral joint: from dysplasia to dislocation

    Science.gov (United States)

    Zaffagnini, Stefano; Grassi, Alberto; Zocco, Gianluca; Rosa, Michele Attilo; Signorelli, Cecilia; Muccioli, Giulio Maria Marcheggiani

    2017-01-01

    Patellofemoral dysplasia is a major predisposing factor for instability of the patellofemoral joint. However, there is no consensus as to whether patellofemoral dysplasia is genetic in origin, caused by imbalanced forces producing maltracking and remodelling of the trochlea during infancy and growth, or due to other unknown and unexplored factors. The biomechanical effects of patellofemoral dysplasia on patellar stability and on surgical procedures have not been fully investigated. Also, different anatomical and demographic risk factors have been suggested, in an attempt to identify the recurrent dislocators. Therefore, a comprehensive evaluation of all the radiographic, MRI and CT parameters can help the clinician to assess patients with primary and recurrent patellar dislocation and guide management. Patellofemoral dysplasia still represents an extremely challenging condition to manage. Its controversial aetiology and its complex biomechanical behaviour continue to pose more questions than answers to the research community, which reflects the lack of universally accepted guidelines for the correct treatment. However, due to the complexity of this condition, an extremely personalised approach should be reserved for each patient, in considering and addressing the anatomical abnormalities responsible for the symptoms. Cite this article: EFORT Open Rev 2017;2. DOI: 10.1302/2058-5241.2.160081. Originally published online at www.efortopenreviews.org PMID:28630757

  10. Cochlear implantation in a bilateral Mondini dysplasia.

    Science.gov (United States)

    Turrini, M; Orzan, E; Gabana, M; Genovese, E; Arslan, E; Fisch, U

    1997-01-01

    We report the speech perception progress and programming procedures of a case of congenital profound deafness and bilateral Mondini dysplasia implanted with a Nucleus 20 + 2 cochlear implant at the age of six. Unclear relations between electrodes array and cochlear partition made implant programming difficult and non-standard procedures were set. Cochlear implantation may give excellent rehabilitative results also in cochleae with malformation.

  11. Human papilloma virus infection and cervical dysplasia.

    Science.gov (United States)

    Melinte-Popescu, Alina; Costăchescu, Gh

    2012-01-01

    Pap testing is considered to be the best screening tool for cervical cancer but there is currently great interest in the possible application of human papilloma virus (HPV) testing to supplement Pap screening for cervical cancer. To determine the prevalence of high-risk HPV types in the studied population and to explore the association between high-risk HPV types and cervical dysplasia. Cross-sectional study conducted at the Iasi Cuza Voda Obstetrics-Gynecology Hospital and Suceava County Hospital. 332 women who underwent colposcopy for cervical lesions between 2006 and 2011 were included in this study. The overall prevalence of HPV was 57.23%. HPV prevalence differs significantly in the three age groups up to 50 years. It was highest in patients below the age of 40 and progressively lower with advancing age. The overall prevalence of cervical dysplasia was 56.62%. The prevalence of cervical dysplasia was highest in the age groups up to 40 years. The most important determinant of HPV infection is age. Persistence of HPV appears to be associated with progression to squamous intraepithelial lesion. Dysplasia is often missed in a cervical sample either because of human error in screening and interpretation, or because of suboptimal quality of Pap smear. Incorporation of HPV testing into the present Pap screening program has the potential of making screening for cervical cancer more effective, and a necessary prelude to assessing this is by determining the prevalence of the high-risk types.

  12. A new lethal sclerosing bone dysplasia

    International Nuclear Information System (INIS)

    Kingston, H.M.; Freeman, J.S.; Hall, C.M.

    1991-01-01

    A neonate is described with a lethal sclerosing bone dysplasia associated with prenatal fractures and craniofacial abnormalities including microcephaly, exophthalmos, hypoplastic nose and mid-face, small jaw and nodular hyperplasia of the gums. Parental consanguinity suggests that an autosomal recessive mutation is the likely aetiology. (orig.)

  13. Ureaplasma urealyticum colonization, prematurity and bronchopulmonary dysplasia

    NARCIS (Netherlands)

    vanWaarde, WM; Brus, F; Okken, A; Kimpen, JLL

    The aim of the present study was to determine the association between the presence of Ureaplasma urealyticum in endotracheal aspirates and bronchopulmonary dysplasia (BPD). In addition, a review of similar studies from the English literature is presented. During the period February 1990 until March

  14. How to decrease bronchopulmonary dysplasia in your neonatal intensive care unit today and "tomorrow".

    Science.gov (United States)

    Nelin, Leif D; Bhandari, Vineet

    2017-01-01

    Bronchopulmonary dysplasia, or BPD, is the most common chronic lung disease in infants. Genetic predisposition and developmental vulnerability secondary to antenatal and postnatal infections, compounded with exposure to hyperoxia and invasive mechanical ventilation to an immature lung, result in persistent inflammation, culminating in the characteristic pulmonary phenotype of BPD of impaired alveolarization and dysregulated vascularization. In this article, we highlight specific areas in current management, and speculate on therapeutic strategies that are on the horizon, that we believe will make an impact in decreasing the incidence of BPD in your neonatal intensive care units.

  15. How to decrease bronchopulmonary dysplasia in your neonatal intensive care unit today and “tomorrow”

    Science.gov (United States)

    Nelin, Leif D.; Bhandari, Vineet

    2017-01-01

    Bronchopulmonary dysplasia, or BPD, is the most common chronic lung disease in infants. Genetic predisposition and developmental vulnerability secondary to antenatal and postnatal infections, compounded with exposure to hyperoxia and invasive mechanical ventilation to an immature lung, result in persistent inflammation, culminating in the characteristic pulmonary phenotype of BPD of impaired alveolarization and dysregulated vascularization. In this article, we highlight specific areas in current management, and speculate on therapeutic strategies that are on the horizon, that we believe will make an impact in decreasing the incidence of BPD in your neonatal intensive care units. PMID:28503300

  16. The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

    Directory of Open Access Journals (Sweden)

    Cybel Mehawej

    2014-05-01

    Full Text Available Impairment of the tightly regulated ossification process leads to a wide range of skeletal dysplasias and deciphering their molecular bases has contributed to the understanding of this complex process. Here, we report a homozygous mutation in the mitochondria-associated granulocyte macrophage colony stimulating factor-signaling gene (MAGMAS in a novel and severe spondylodysplastic dysplasia. MAGMAS, also referred to as PAM16 (presequence translocase-associated motor 16, is a mitochondria-associated protein involved in preprotein translocation into the matrix. We show that MAGMAS is specifically expressed in trabecular bone and cartilage at early developmental stages and that the mutation leads to an instability of the protein. We further demonstrate that the mutation described here confers to yeast strains a temperature-sensitive phenotype, impairs the import of mitochondrial matrix pre-proteins and induces cell death. The finding of deleterious MAGMAS mutations in an early lethal skeletal dysplasia supports a key role for this mitochondrial protein in the ossification process.

  17. Penatalaksanaan Oligodontia pada Anak 14 Tahun dengan Sindrom Ectodermal Dysplasia: Laporan Kasus

    Directory of Open Access Journals (Sweden)

    Anie Apriani

    2015-12-01

    Full Text Available Ectodermal dysplasia is a hereditary disorder that is rarely seen with approximately 7000 cases in the world. In this disorder, Ectodermal dysplasia occurs as a developmental disorder of organ structures derived from the ectodermal layer such as hair, teeth, nails, and sweat glands. This is a case report of ectodermal dysplasia in a 14-year-old girl with clinical manifestations of oligodontia (tooth loss, more than 6 teeth on the upper and lower jaw, thin and curly hair, abnormal toenail shape, and impaired excretion of sweat. The purpose of the treatment was to make the patient regains her esthetic and masticatory functions, which were disrupted by the absence of permanent tooth buds, as well as to maintain the normal growth of the developing jaws. Treatment for the patient’s with oligodontia included the use of removable denture in lower jaw and application of acrylic crowns on all upper and lower anterior teeth resulting in improved esthetics and masticatory function. It is concluded that the treatment has been able to improve the esthetics and to return the masticatory function of the patient while maintaining the normal growth of the jaws.

  18. Simultaneous analysis of rotational and vibrational-rotational spectra of DF and HF to obtain irreducible molecular constants for HF

    International Nuclear Information System (INIS)

    Horiai, Koui; Uehara, Hiromichi

    2011-01-01

    Graphical abstract: Available rotational and vibrational-rotational spectral lines of DF and HF are analyzed simultaneously using a non-Born-Oppenheimer effective Hamiltonian. Research highlights: → Simultaneous analysis of DF and HF spectral data. → Application of a non-Born-Oppenheimer effective Hamiltonian. → Twenty irreducible molecular constants for HF have been determined. - Abstract: Analytic expressions of corrections for the breakdown of the Born-Oppenheimer approximation to Dunham's Y ij with optimal parameters, i.e., determinable clusters of expansion coefficients, are applied to a data analysis of the rotational and vibrational-rotational transitions of HF reported in the literature. All the available spectral lines of the two isotopologues, DF and HF, are simultaneously fitted to a single set of molecular parameters of HF within experimental errors. Fitting of a data set of 595 spectral transitions for DF and HF has generated only 20 minimal independent parameter values, i.e., 'irreducible' molecular constants of HF, that are sufficient to precisely generate 82 Y ij coefficients and 144 band constants in total: 41 Y ij and 72 band constants each for DF and HF.

  19. Hypohidrotic and hidrotic ectodermal dysplasia: a report of two cases.

    Science.gov (United States)

    Vasconcelos Carvalho, Marianne; Romero Souto de Sousa, José; Paiva Correa de Melo, Filipe; Fonseca Faro, Tatiane; Nunes Santos, Ana Clara; Carvalho, Silvia; Veras Sobral, Ana Paula

    2013-07-14

    Ectodermal dysplasias are a large group of syndromes characterized by anomalies in the structures of ectodermal origin. There are 2 major types of this disorder, based on clinical findings: hypohidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia. This clinical classification is very important because clinical professionals involved with this disease need first a clear and practical method of diagnosis. The main oral manifestation of ectodermal dysplasia may be expressed as hypodontia. Thus, dental professionals may be the first to diagnose ectodermal dysplasia. The present article reports one case of each of the main types (hypohidrotic and hidrotic) of ectodermal dysplasia and the authors review the literature regarding the pathogenesis, clinical features, and therapeutic management of this condition.

  20. Joint space width in dysplasia of the hip

    DEFF Research Database (Denmark)

    Jacobsen, Steffen; Sonne-Holm, Stig; Søballe, K

    2005-01-01

    In a longitudinal case-control study, we followed 81 subjects with dysplasia of the hip and 136 control subjects without dysplasia for ten years assessing radiological evidence of degeneration of the hip at admission and follow-up. There were no cases of subluxation in the group with dysplasia....... Neither subjects with dysplasia nor controls had radiological signs of ongoing degenerative disease at admission. The primary radiological discriminator of degeneration of the hip was a change in the minimum joint space width over time. There were no significant differences between these with dysplasia...... and controls in regard to age, body mass index or occupational exposure to daily repeated lifting at admission.We found no significant differences in the reduction of the joint space width at follow-up between subjects with dysplasia and the control subjects nor in self-reported pain in the hip...

  1. Prosthodontic management of anhidrotic ectodermal dysplasia

    Directory of Open Access Journals (Sweden)

    Shilpy Gupta

    2011-01-01

    Full Text Available Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent protrusion and eversion of the lips. Patients with anhidrotic forms suffer from heat intolerance due to lack of sweat glands and mild infections may lead to death in infancy from hyperthermia. A case of a 4-year-old child with anhidrotic ectodermal dysplasia with partial anodontia is presented. Dental, oral, and physical features were taken into consideration in diagnosis and treatment planning for this patient. Clinical management consisted of removable partial prosthesis in maxillary arch and complete denture prosthesis in mandibular arch. The main aim of the treatment was to improve psychological development and to promote better functioning of the stomatognathic system.

  2. Mutations in FLNB cause boomerang dysplasia.

    Science.gov (United States)

    Bicknell, L S; Morgan, T; Bonafé, L; Wessels, M W; Bialer, M G; Willems, P J; Cohn, D H; Krakow, D; Robertson, S P

    2005-07-01

    Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia, characterised by absence or underossification of the limb bones and vertebrae. The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B. We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia. The resultant substitutions, L171R and S235P, lie within the calponin homology 2 region of the actin binding domain of filamin B and occur at sites that are evolutionarily well conserved. These findings expand the phenotypic spectrum resulting from mutations in FLNB and underline the central role this protein plays during skeletogenesis in humans.

  3. Arrhythmogenic right ventricular dysplasia: A case report

    Directory of Open Access Journals (Sweden)

    Tessa Negrín Valdés

    2015-10-01

    Full Text Available Arrhythmogenic right ventricular dysplasia is a heart muscle disease that predominantly affects the right ventricle, bringing about the replacement of normal myocardium with fatty or fibrofatty tissue and causing sudden death in young individuals. Ventricular tachycardia is an important clinical manifestation, although there are reports of right or global heart failure. The diagnosis is confirmed by echocardiography and magnetic resonance imaging. The case of a 65-year-old former smoker, with hypertension and ischemic heart disease, a history of effort syncope symptoms and proven non-sustained ventricular tachycardia, with morphology of left bundle branch block, is reported. Relevant diagnostic studies were performed, and echocardiographic elements which were compatible with arrhythmogenic right ventricular dysplasia were found. Therefore, an implantable cardioverter defibrillator was implanted, after which the patient has had a favorable outcome.

  4. MRA of fibromuscular dysplasia in cervical vessels

    International Nuclear Information System (INIS)

    Link, J.; Steffens, J.C.; Mueller-Huelsbeck, S.; Brossmann, J.; Heller, M.

    1996-01-01

    In 386 selective angiograms of cervical vessels fibromuscular dysplasia was revealed in 4 female patients in the age of 30-54 years. FMD was located in the carotid artery (n=5) and in the vertebral artery (n=2) with a total of 8 lesions. 6/8 of the lesions of the seven cervical vessels were located typically in the mid cervical portion of the vessels and 2/6 lesions were located in the atlas loop of the vertebral artery. 4 lesions showed moderate stenosis and 4 vessels showed only mild stenosis. These patterns which demonstrated the typical morphology of fibromuscular dysplasia with alternating irregular zones of widening and narrowing were evaluated well with MR angiography, the others were missed. (orig./MG) [de

  5. Developmental Immunotoxicity

    Science.gov (United States)

    Animal models suggest that the immature immune system is more susceptible to xenobiotics than the fully mature system, and sequelae of developmental immunotoxicant exposure may be persistent well into adulthood. Immune maturation may be delayed by xenobiotic exposure and recover...

  6. KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia

    KAUST Repository

    Shamseldin, Hanan E.; Khalifa, Ola; Binamer, Yousef M.; Almutawa, Abdulmonem; Arold, Stefan T.; Zaidan, Hamad; Alkuraya, Fowzan S.

    2016-01-01

    Ectodermal dysplasia is a highly heterogeneous group of disorders that variably affect the derivatives of the ectoderm, primarily skin, hair, nails and teeth. TP63, itself mutated in ectodermal dysplasia, links many other ectodermal dysplasia

  7. Fetal MR imaging of Kniest dysplasia

    International Nuclear Information System (INIS)

    Yazici, Zeynep; Kline-Fath, Beth M.; Laor, Tal; Tinkle, Bradley T.

    2010-01-01

    We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly. By delineating the cartilaginous abnormalities, fetal MRI can contribute to the prenatal diagnosis of chondrodysplasias. (orig.)

  8. MR imaging features of craniodiaphyseal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Marden, Franklin A. [Mallinckrodt Institute of Radiology, Washington University Medical Center, 510 South Kingshighway Blvd., MO 63110, St. Louis (United States); Department of Radiology, St. Louis Children' s Hospital, Children' s Place, MO 63110, St. Louis (United States); Wippold, Franz J. [Mallinckrodt Institute of Radiology, Washington University Medical Center, 510 South Kingshighway Blvd., MO 63110, St. Louis (United States); Department of Radiology, St. Louis Children' s Hospital, Children' s Place, MO 63110, St. Louis (United States); Department of Radiology/Nuclear Medicine, F. Edward Hebert School of Medicine, Uniformed Services University of the Health Sciences, MD 20814, Bethesda (United States)

    2004-02-01

    We report the magnetic resonance (MR) imaging findings in a 4-year-old girl with characteristic radiographic and computed tomography (CT) features of craniodiaphyseal dysplasia. MR imaging exquisitely depicted cranial nerve compression, small foramen magnum, hydrocephalus, and other intracranial complications of this syndrome. A syrinx of the cervical spinal cord was demonstrated. We suggest that MR imaging become a routine component of the evaluation of these patients. (orig.)

  9. Bilateral anophthalmia with septo-optic dysplasia

    OpenAIRE

    Jana, Manisha; Sharma, Sanjay

    2010-01-01

    Bilateral anophthalmia is a rare entity and association with septo-optic dysplasia is an even rare condition. The condition is characterized by absent eyeballs in the presence of eyelids, conjunctiva or lacrimal apparatus. Though anophthalmia can be diagnosed clinically, imaging plays a crucial role in delineating the associated anomalies. In addition, often clinical anophthalmia may prove to be severe microphthalmia on imaging. We describe the imaging findings in an infant with bilateral ano...

  10. Distinctive skeletal dysplasia in Cockayne syndrome

    International Nuclear Information System (INIS)

    Silengo, M.C.; Franceschini, P.; Bianco, R.; Biagioli, M.; Pastorin, L.; Vista, N.; Baldassar, A.; Benso, L.

    1986-01-01

    Cockayne syndrom is a well-known autosomal recessive form of dwarfism with senile-like appearance. Skeletal changes such as flattening of vertebral bodies, ivory epiphyses and thickening of cranial vault, have been observed in some patients with this condition. We describe here a 5.5-year-old girl with the typical clinical signs of Cockayne syndrome and a distinctive form of bone dysplasia with major involvment of the spine. (orig.)

  11. Distinctive skeletal dysplasia in Cockayne syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Silengo, M.C.; Franceschini, P.; Bianco, R.; Biagioli, M.; Pastorin, L.; Vista, N.; Baldassar, A.; Benso, L.

    1986-03-01

    Cockayne syndrome is a well-known autosomal recessive form of dwarfism with senile-like appearance. Skeletal changes such as flattening of vertebral bodies, ivory epiphyses and thickening of cranial vault, have been observed in some patients with this condition. We describe here a 5.5-year-old girl with the typical clinical signs of Cockayne syndrome and a distinctive form of bone dysplasia with major involvement of the spine.

  12. Fetal MR imaging of Kniest dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Yazici, Zeynep [Uludag University, Faculty of Medicine, Department of Radiology, Gorukle (Turkey); Kline-Fath, Beth M.; Laor, Tal [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Tinkle, Bradley T. [Cincinnati Children' s Hospital Medical Center, Division of Human Genetics, Cincinnati, OH (United States)

    2010-03-15

    We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly. By delineating the cartilaginous abnormalities, fetal MRI can contribute to the prenatal diagnosis of chondrodysplasias. (orig.)

  13. Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Macpherson, R.I.; Wood, B.P.

    1980-07-01

    Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.

  14. Malignant transformation of fibrous dysplasia into chondroblastic osteosarcoma

    International Nuclear Information System (INIS)

    Kaushik, Shaifali; Smoker, Wendy R.K.; Frable, William J.

    2002-01-01

    A case of malignant transformation of polyostotic fibrous dysplasia into maxillary chondroblastic osteosarcoma is presented. The clinical, radiographic, CT, MR imaging features and pathological findings of polyostotic fibrous dysplasia and its malignant transformation are described. Malignant transformation of fibrous dysplasia is rare and has not previously been described in the English literature in this location in McCune-Albright syndrome and in the absence of radiation treatment. (orig.)

  15. Bizarre cell dysplasia of the cervix.

    Science.gov (United States)

    Ondič, Ondrej; Ferko, Radoslav; Kašpírková, Jana; Švajdler, Marián; Rýchly, Boris; Talarčík, Peter; Bouda, Jiří; Michal, Michal

    2017-02-01

    The aim of this study was the characterization of a new subtype of high-grade cervical squamous intraepithelial lesion (HSIL) with enlarged cells containing bizarre nuclei: so-called bizarre cell dysplasia (BCD). A total of 29 cervical cone biopsy samples of this type of dysplasia were studied. Multi-target polymerase chain reaction and in situ hybridization human papillomavirus (HPV) detection was performed in all cases. BCD was defined as a subtype of HSIL characterized by the presence of large dysplastic cells with abnormal, large pleomorphic nuclei or multinucleation causing nucleomegaly. This results in bizarre nuclear shapes. Bizarre cells are scattered throughout the whole thickness of the dysplastic squamous epithelium. The BCD lesions arise within the conventional/classic high grade or "bland" type squamous dysplasia HSIL. Statistically they were significantly associated with HVP type 16. A significant association with other studied viruses (Herpes simplex virus [HSV]1, HSV2, Varicella zoster virus, Epstein-Barr virus, cytomegalovirus, human herpesvirus 6, and human polyomaviruses BK and JC) was not confirmed. BCD involves cytologically characteristic morphologic changes that are recognizable, but which may pose some risk of misdiagnosis as low-grade squamous intraepithelial lesion due to the enlargement of dysplastic cells and multinucleation. Based on the unique histological, cytological and biological features of BCD including strong association with HPV 16 infection, we believe that this is a specific, and so far unrecognized variant of HSIL. © 2017 Japan Society of Obstetrics and Gynecology.

  16. Florid osseous dysplasia of the jaws

    International Nuclear Information System (INIS)

    Cho, Su Beom; Koh, Kwang Joon

    1995-01-01

    Few cases of florid osseous dysplasia has been described as a condition that characteristically affects the jaws. It usually manifests as multiple radiopaque masses distributed throughout the jaws. Confusion exists about the relationship of florid osseous dysplasia, gigantiform cementoma, chronic sclerosing osteomyelitis, sclerosing osteitis or multiple enostosis. Authors experienced a case of florid osseous dysplasia of the jaws in 52-year-old female on the basis of clinical, radiographic and histopathologic findings. The characteristic features are as follows: 1. In clinical examination, there was no clinical sign and symptoms except extrated area. And there was no facial asymmetry. 2. Radiograms show round or lobular dense radiopaque masses surrounded by radiolucent bands in lower molar teeth area bilaterally. And slight increased radiopacities in maxillary molar teeth area bilaterllay. There was no expansion or thinning of buccal and lingual cortical bones. There is no displacement or resorption of involved teeth. In right side of mandible, mandibular canal is displaced inferiorly due to mass. 3. Photomicrograms show densely mineralized sclerotic acellular masses with empty lacunae. Pattern is suggestive of cementum, although it could be considered sclerotic bone. In the periphery, lesion consisting of moderately cellular fibrous tissue in calcified products are deposited.

  17. Treatment of oral dysplasia with 5% imiquimod cream: short communication.

    Science.gov (United States)

    Mullins, R; Ansell, M; Laverick, S

    2016-11-01

    We report what we think is the first treatment of oral dysplasia with 5% imiquimod cream. A 60-year-old man presented with varying degrees of dysplasia on the soft palate. A cover plate was fabricated and the patient was prescribed 5% imiquimod cream, a topical imunomodulator, for six weeks. The lesion improved and histological examination of an incisional biopsy found no features of dysplasia. This case highlights the efficacy of imiquimod cream in the treatment of dysplasia, and the need for development of a preparation suitable for the oral mucosa. Copyright © 2016. Published by Elsevier Ltd.

  18. The role of the acetabular labrum in hip dysplasia

    DEFF Research Database (Denmark)

    Hartig-Andreasen, Charlotte; Søballe, Kjeld; Troelsen, Anders

    2013-01-01

    A periacetabular osteotomy (PAO) is the preferred joint preserving treatment for young adults with symptomatic hip dysplasia and no osteoarthritis. In symptomatic dysplasia of the hip, there is labral pathology in up to 90% of cases. However, no consensus exists as to whether a labral tear should...... be treated before the periacetabular osteotomy (PAO), treated simultaneously with the PAO, or left alone and only treated if symptoms persist after the PAO. This review is an update of aspects of labral anatomy and function, the etiology of labral tears in hip dysplasia, and diagnostic assessment of labral...... tears, and we discuss treatment strategies for coexisting labral tears and hip dysplasia....

  19. Thanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly

    Directory of Open Access Journals (Sweden)

    Maria Francis Yuvaraj

    2017-01-01

    Full Text Available The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowledge about this condition is useful in the fields of Anatomy, Paediatrics, Obstetrics and Gynaecology, Ultrasonagraphy and Genetics, for future research purpose.

  20. Focal cemento-osseous dysplasia: review and a case report.

    Science.gov (United States)

    Salem, Y M Y; Osman, Y I; Norval, E J G

    2010-10-01

    Focal cemento-osseous dysplasia is a benign fibro-osseous condition that can be seen in dentate and edentulous patients. It is an asymptomatic lesion and needs no treatment; however follow-up is essential due to the possibility that focal cemento-osseous dysplasia can progress to a condition called florid osseous dysplasia that involves multiple sites. A case report is presented here, along with a review of the differential diagnoses considered in order to reach a final diagnosis of focal cemento-osseous dysplasia.

  1. Comparison of three methods to diagnose hip dysplasia in dogs

    International Nuclear Information System (INIS)

    Sharma, Vikas; Mohindroo, J.

    2009-01-01

    The present study was designed to compare the usefulness of goniometry, radiography and distraction index in diagnosis of hip dysplasia in dogs. During the study 25 clinical cases (50 joints) suspected for hip dysplasia were evaluated. Norberg angle was found to have a significant positive correlation with extension, flexion, abduction, and adduction angles and a significant negative correlation with distraction index (DI) measurements. It could be inferred that all the six parameters (NA, DI, extension, flexion, abduction, and adduction) were reliable indicators for early diagnosis of hip dysplasia.Goniometry could be used as a safe and easy method for preliminary suspicion of hip dysplasia

  2. [Mondini dysplasia: traumatic cerebrospinal fluid otorrhea with meningitis].

    Science.gov (United States)

    Kaftan, H; Adamaszek, M; Hosemann, W

    2006-08-01

    Mondini dysplasia is a rare malformation of the inner ear commonly associated with loss of hearing and vestibular function. Children with Mondini dysplasia are predisposed to developing a spontaneous cerebrospinal fluid (CSF) leak and recurrent meningitis. If there is no CSF leak but a unilateral hearing loss, the condition may go undiagnosed for years. We describe a 65-year-old man with unrecognized unilateral Mondini dysplasia who presented with CSF leak and meningoencephalitis after minor head trauma. Two operative interventions were undertaken to close the defect properly. Patients with Mondini dysplasia or their parents should be cautioned about the potential hazards of any head trauma.

  3. The Ectodermal Dysplasias : Severe Palmoplantar Hyperkeratosis And Chronic Angular Cheilitis

    Directory of Open Access Journals (Sweden)

    Mahajan Vikram K

    2003-01-01

    Full Text Available The ectodermal dysplasias are congenital, non-progressive and diffuse disorders affecting primarily the tissues derived from ectoderm. Over a period, their classification has become confusing due to indiscriminate use of them “ectodermal dysplasia” for numerous syndromes with a defect in one or more epidermal defect in each element of skin; their precise classification appears difficult as yet. Only X-linked recessive ectodermal dysplasia (Christ-Siemens-Touraine syndrome remains best defined. This paper describes three cases of ectodermal dysplasias highlighting their overlapping features.

  4. The early diagnosis of developmental dysplasia of the hip using ultrasonography. The importance of following up cases with physiological immaturity; Diagnostico precoz por ultrasonidos de la displasia de desarrollo de la cadera. Importancia del seguimiento de los casos con inmadurez fisiologia

    Energy Technology Data Exchange (ETDEWEB)

    Esparza, J.; Gonzalez, A.; Garcia, S.; Elso, J.; Cordero, J. L. [Hospital Vigen del Camino. Pamplona (Spain)

    1999-07-01

    To determine the efficiency of an early diagnosis programme using ultrasounds (US) of development dysplasia of the hip (DDH), using different criteria to delect patients according to the sex: universal to girls, but only including boys with a DDH risk factor (a physical pathological examination of new born babies, babies born feet first, family history and orthopaedic deformities). Of the 3,469 children born at our hospital during one specific year, 1,721 were included in the programme. US was carried out on all of them, following the Graf technique, when they were a month old, with the exception of the new born babies who were studied during their first week by means of a physical pathological examination. The babies who were diagnosed with physically immature hips in this first study using US; were followed up. Thirty-two babies born during the year suffered from DDH (a rate of 9.2 per thousand). Among them there was only 1 case of delayed DDH (that was not detected in the programme). Seven babies were diagnosed with DDH thanks to the follow up procedures carried out on babies with physically immature hips. Putting this programme for early diagnosis into practices has achieved the almost total disappearance of delayed DDH. When comparing the results with previous periods, where different early detection systems were used, the duration and the aggressiveness of the treatment has reduced considerably. Follow up procedures using US of physically immature hips is obligatory. (Author) 14 refs.

  5. Quantum physics the bottom-up approach : from the simple two-level system to irreducible representations

    CERN Document Server

    Dubbers, Dirk

    2013-01-01

    This concise tutorial provides the bachelor student and the practitioner with a short text on quantum physics that allows them to understand a wealth of quantum phenomena based on a compact, well readable, yet still concise and accurate description of nonrelativistic quantum theory. This “quadrature of the circle” is achieved by concentrating first on the simplest quantum system that still displays all basic features of quantum theory, namely, a system with only two quantized energy levels. For most readers it is very helpful to understand such simple systems before slowly proceeding to more demanding topics like particle entanglement, quantum chaos, or the use of irreducible tensors. This tutorial does not intend to replace the standard textbooks on quantum mechanics, but will help the average student to understand them, often for the first time.

  6. Osseous dysplasia (cemento-osseous dysplasia) of the jaw bones in western Pennsylvania patients: analysis of 35 cases.

    Science.gov (United States)

    Owosho, Adepitan A; Potluri, Anitha; Bilodeau, Elizabeth A

    2013-01-01

    The purpose of this study is to analyze the demographic, clinical, and radiographic presentations of osseous dysplasia of the jaws in western Pennsylvania patients and its associated complications. The clinical records and radiographs of patients diagnosed with osseous (cement-osseous) dysplasia were retrieved from the electronic health record of the University of Pittsburgh, School of Dental Medicine from 2007 to 2012. All cases were reviewed; the WHO criteria and classification for osseous dysplasia was used. Clinical and demographic data, radiographic findings, and final diagnoses were collected and analyzed. 35 cases of osseous dysplasia were retrieved over the six-year period.The majority (33) were females [94.3%], with ages ranging from 26 to 89 years, with a mean age of 53.9 years +/- standard deviation of 15.6 years, 32 [91.4%] were African Americans and 3 [8.6%] were Caucasians. 17 [48.6%] were florid osseous dysplasia, 13 [37.1%] periapical osseous dysplasia and 5 [14.3%] focal osseous dysplasia. Of the 35 patients only 8 [22.9%] patients were symptomatic. All florid osseous dysplasia patients were African American females, with 7 of the patients being symptomatic and the commonest symptom being pain. Also, all periapical osseous dysplasia patients were African Americans (12 females and 1 male), with 1 of the patients presenting with widening of the diastema. Of the focal osseous dysplasia patients, 3 were Caucasians and 2 African American (4 females and 1 male). The cases occurred mostly in African American females with a peak incidence in the fifth and sixth decades of life; most cases occurred in the mandible. The commonest form of osseous dysplasias was the florid osseous dysplasia which is most likely to present with symptoms.

  7. Two-dimensional and three-dimensional CT analysis of congenital hip dysplasia in the older child and adult

    International Nuclear Information System (INIS)

    Magid, D.; Fishman, E.K.; Brooker, A.F.; Sponseller, P.D.

    1987-01-01

    In the older child or adult with congenital dysplasia of the hip, a spectrum of developmental abnormalities of the femoral head, neck, and acetabulum produce progressive hip dysfunction, pain, and premature arthritis. Treatment is oriented to restoring normal and pain-free function, although (unlike the infant with successfully treated dislocation) a truly normal hip cannot be restored. For these patients, who may require extensive reconstruction, transaxial CT with both static 2D (coronal and sagittal) and animated volumetric 3D image reformatting offers the most complete, accurate, and integrated approach to diagnosis and therapeutic planning. Parameters preoperatively assessed include head subluxation, neck anteversion, quadrilateral plate thickness, degree of dysplasia, potential for concentric reduction, acetabular capacity, and muscle status. Postoperatively, both immediate and long-term results or complications are easily assessed and readily compared

  8. Reduction of atlantoaxial dislocation prevented by pathological position of the transverse ligament in fixed, irreducible os odontoideum: operative illustrations and radiographic correlates in 41 patients.

    Science.gov (United States)

    Dlouhy, Brian J; Policeni, Bruno A; Menezes, Arnold H

    2017-07-01

    OBJECTIVE Os odontoideum (OO) is a craniovertebral junction (CVJ) abnormality in which an ossicle (small bone) is cranial to a hypoplastic dens by a variable gap. This abnormality can result in instability, which may be reducible or irreducible. What leads to irreducibility in OO is unclear. Therefore, the authors sought to better understand the causes of irreducibility in OO. METHODS A retrospective review was conducted, which identified more than 200 patients who had undergone surgical treatment for OO between 1978 and 2015 at the University of Iowa Hospitals and Clinics. Only the 41 patients who had irreducible OO were included in this study. All inpatient and outpatient records were retrospectively reviewed, and patient demographics, clinical presentation, radiographic findings, surgical treatment, and operative findings were recorded and analyzed. RESULTS The cohort of 41 patients who were found to have irreducible OO included both children and adults. A majority of patients were adults (61% were 18 years or older). Clinical presentation included neck pain and headache in the majority of patients (93%). Weakness, sensory disturbances, and myelopathy were invariably present in all 41 patients (100%). Down syndrome was much more common in the pediatric cohort than in the adult cohort; of the 16 pediatric patients, 6 had Down syndrome (38%), and none of the adults did. Of the 16 pediatric patients, 5 had segmentation failure (31%) in the subaxial spine, and none of the adults did. A form of atlantoaxial dislocation was seen in all cases. On CT imaging, atlantoaxial facets were dislocated in all 41 cases but did not have osseous changes that would have prevented reduction. On MRI, the transverse ligament was identified anterior and inferior to the ossicle and superior to the hypoplastic odontoid process in all cases in which these studies were available (i.e., post-MRI era; 36 of 36 cases). The ligament was hypointense on T2-weighted images but also had an

  9. Developmental Scaffolding

    DEFF Research Database (Denmark)

    Giorgi, Franco; Bruni, Luis Emilio

    2015-01-01

    . Within the developmental hierarchy, each module yields an inter-level relationship that makes it possible for the scaffolding to mediate the production of selectable variations. Awide range of genetic, cellular and morphological mechanisms allows the scaffolding to integrate these modular variations...... to the complexity of sign recognition proper of a cellular community. In this semiotic perspective, the apparent goal directness of any developmental strategy should no longer be accounted for by a predetermined genetic program, but by the gradual definition of the relationships selected amongst the ones...

  10. Cleidocranial dysplasia: Report of 4 cases and review

    Directory of Open Access Journals (Sweden)

    Virender Gombra

    2008-01-01

    Full Text Available Patients with cleidocranial dysplasia commonly present with significant dental problems such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth and often, the presence of supernumerary teeth. We report 4 cases of 2 families presenting with cleidocranial dysplasia disorder with their clinical and radiological diagnosis and illustrating its pathogenesis and various treatment modalities, review of literatures.

  11. Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Kate A

    2009-01-01

    Full Text Available We describe a rare case of pneumothorax due to Marfan syndrome associated with fibrous dysplasia of the mandible. Marfan syndrome and fibrous dysplasia were possibly due to a common etiological factor. The association between the two and other tumors described in literature related to Marfan syndrome is discussed.

  12. Prevalence of Cervical Dysplasia among Women in Kano Municipal ...

    African Journals Online (AJOL)

    Fifty-seven women had cervical dysplasia giving a prevalence rate of 10.63%. Of the 57 women with cervical dysplasia, 21 (36.8%) had a low grade squamous intraepithelial lesions (LGSIL), while 36(63.2%) had a high grade squamous intraepithelial lesion (HGSIL). The disease was higher in grand multiparous clients ...

  13. Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

    NARCIS (Netherlands)

    Sousa, Sérgio B.; Russell-Eggitt, Isabelle; Hall, Christine; Hall, Bryan D.; Hennekam, Raoul C. M.

    2008-01-01

    There are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone-rod dystrophy, without other significant impairments. The entity

  14. The Possible Relationship Between Mammary Dysplasia and Breast ...

    African Journals Online (AJOL)

    Aim: There is need to resolve the continuing difficult question regarding the possible relationship between mammary dysplasia and breast cancer. Method: This is a 30-year study of the incidences of both mammary dysplasia and breast cancer occurring among the Igbos, a major ethnic group in Nigeria, West Africa. Results: ...

  15. Joint space width in dysplasia of the hip

    DEFF Research Database (Denmark)

    Jacobsen, Steffen; Sonne-Holm, Stig; Søballe, K

    2005-01-01

    . Neither subjects with dysplasia nor controls had radiological signs of ongoing degenerative disease at admission. The primary radiological discriminator of degeneration of the hip was a change in the minimum joint space width over time. There were no significant differences between these with dysplasia...

  16. Genetics Home Reference: X-linked spondyloepiphyseal dysplasia tarda

    Science.gov (United States)

    ... Educational Resources (6 links) Cincinnati Children's Hospital: Coxa Vera Disease InfoSearch: Spondyloepiphyseal dysplasia tarda X-linked Johns ... Free article on PubMed Central Savarirayan R, Thompson E, Gécz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ...

  17. Knee radiography in the diagnosis of skeletal dysplasias

    International Nuclear Information System (INIS)

    Kwee, Thomas C.; Beek, Frederik J.A.; Nievelstein, Rutger A.J.; Beemer, Frits A.

    2006-01-01

    Flattening of the epiphyses of long bones is seen in several skeletal dysplasias and standardized measurements on a radiograph of the knee to detect skeletal dysplasias using this feature have been described. Since then only two other studies in which this method was used have been published, and both included only a small number of children and neither had a control group. In addition, the Dutch National Working Group on Skeletal Dysplasias began to have doubts about the reliability of the method. We therefore decided to re-evaluate its accuracy in a population of children with and without a skeletal dysplasia. To determine the diagnostic value of standardized measurements on conventional AP radiographs of the knee in children with a skeletal dysplasia. Subjects and methods: We measured the distal femoral metaphysis and epiphysis according to the published method on conventional AP radiographs of the knee in 45 healthy children and 52 children with a skeletal dysplasia. We compared graphically the height of the distal femoral epiphysis with its width and with the width of the femoral metaphysis. Receiver operating characteristic (ROC) curves were calculated for each group of children. All graphs showed a considerable overlap between children with a skeletal dysplasia and healthy children. The size of the area under the ROC curves for the different groups was small, varying between 0.567 and 0.653. This method does not discriminate between children with a skeletal dysplasia and healthy children. We therefore consider it to be of little diagnostic value. (orig.)

  18. Management of high-grade dysplasia in Barrett's esophagus.

    Science.gov (United States)

    Palley, S L; Sampliner, R E; Garewal, H S

    1989-08-01

    When Barrett's esophagus is complicated by adenocarcinoma, surgery is indicated in appropriate patients. Until now, high-grade dysplasia in Barrett's esophagus has been managed in a similar fashion. We explore this approach and review reported cases of high-grade dysplasia to suggest guidelines for collection of data to make future clinical decisions more rational.

  19. Cerebral infarction attributable to cerebrovascular fibromuscular dysplasia

    International Nuclear Information System (INIS)

    Shimazaki, Haruo

    2008-01-01

    Fibromuscular dysplasia (FMD) is a noninflammatory, nonatheromatous segmental angiopathy. The renal arteries are affected most commonly, followed by the internal carotid and vertebral arteries. FMD of the internal carotid and vertebral arteries usually occurs in the extracranial portions and is mostly observed at the level of the second cervical vertebra. FMD of the intracranial arteries is rare, but tends to occur in children and young adults. FMD is more common in females than in males, and it is often observed in middle-aged women. Although the etiology of FMD is not well understood, several mechanisms have been proposed, such as genetic predisposition, hormonal factors, and arterial wall ischemia. The pathology of FMD is characterized by smooth muscle hyperplasia or thinning, elastic fiber destruction, fibrous tissue proliferation, and arterial wall disorganization. Cerebrovascular fibromuscular dysplasia (cFMD) is relatively rare in Japan but is regarded as one of the cardinal causes of stroke in the younger population. cFMD without complications causes nonspecific symptoms such as headache or vertigo, but when it results in an arterial dissection or aneurysm, it leads to cerebral infarction or subarachnoid hemorrhage. Conventional angiographic findings mostly reveal a pattern called the 'string of beads', which is pathologically correlated to medial fibromuscular dysplasia. Doppler echography, computed tomography and magnetic resonance angiography (MRA) may be useful for detecting cFMD lesions in some cases. MRA should be performed to rule out the presence of intracranial aneurysms. Antiplatelet and anticoagulation agents are prophylactics against cFMD complications. Surgical treatments such as graduated intraluminal dilatation had previously been the mainstays for treating cFMD. Percutaneous transluminal angioplasty with or without stenting has now become the preferred invasive treatment for symptomatic cFMD. (author)

  20. Renal dysplasia and MRI: a clinician's perspective

    Energy Technology Data Exchange (ETDEWEB)

    Greenbaum, Larry A. [Emory University, Division of Pediatric Nephrology, Children' s Healthcare of Atlanta, Atlanta, GA (United States)

    2008-01-15

    Renal dysplasia is a common abnormality in children. The role of MRI in evaluating children with renal dysplasia is evolving. More information is clearly necessary before MRI replaces conventional imaging modalities. In order to appropriately use MRI, the radiologist must have an understanding of the clinical questions that are important in the management of children with renal dysplasia. This review provides background information on renal dysplasia for the pediatric radiologist. The focus is on unilateral disease, especially multicystic dysplastic kidneys, and bilateral dysplasia, which is the most common cause of kidney failure in children. The emphasis is on the important clinical issues, and the potential of MRI as a methodology for providing clinically useful information not otherwise available from other imaging modalities. (orig.)

  1. An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita

    Directory of Open Access Journals (Sweden)

    Onur Elbasan

    2017-12-01

    Full Text Available Skeletal dysplasia is a complex and rare disease group that presents with clinical and radiological findings that differ from classical metabolic bone diseases in which bone and cartilage tissue are affected together. Spondyloepiphyseal dysplasia conjenita with involvement of the spine and long bone epiphyses is seen with short stature and short body from birth. Although bone deformities such as shortness of neck and vertebrae, kyphosis, scoliosis, pectus carinatum, genu varum or valgum are frequent, association with osteopenia/osteoporosis has been rarely reported. Although spondyloepiphyseal dysplasia tarda and osteopenia are coexisting in the literature, there is no evidence of the association of spondyloepiphyseal dysplasia tarda and conjunctiva with osteoporosis. In our case report, we presented a patient who was applied to our center with short stature, diagnosed with osteoporosis and spondyloepiphyseal dysplasia congenita by detecting femur head aplasia in radiological imaging.

  2. Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Andersen, P.E. Jr.; Hauge, M.; Bang, J.

    1988-01-01

    Two cases of dyssegmental dysplasia (type Silverman-Handmaker) in siblings are presented. The first-born died at the age of 3 months and the second fetus was followed during pregnancy with ultrasound examinations. In the 20th week of gestation marked shortening of the extremities was found; a female infant showing the same radiologic bony malformations as the firstborn was born by cesarean section. These cases support the autosomal recessive inheritance and demonstrate the possibility of prenatal diagnosis in this type of micromelic dwarfism. (orig.)

  3. Autosomal dominant craniometaphyseal dysplasia with atypical features.

    Science.gov (United States)

    McKay, D R; Fialkov, J A

    2002-03-01

    Craniometaphyseal dysplasia (CMD) is a rare genetic disorder of bone modelling characterised by hyperostosis and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses. Clinically, autosomal dominant (AD) CMD is characterised by facial distortion and cranial-nerve compression. The goals of surgical treatment for AD CMD are cosmetic recontouring of the sclerotic craniofacial bones, correction of nasal obstruction and correction or prevention of neurological manifestations. We describe the successful correction of AD CMD craniofacial manifestations in an individual with atypical findings, and outline an approach for correcting the craniofacial deformities associated with this rare disorder. Copyright 2002 The British Association of Plastic Surgeons.

  4. Fibromuscular Dysplasia Presenting with Bilateral Renal Infarction

    International Nuclear Information System (INIS)

    Doody, O.; Adam, W. R.; Foley, P. T.; Lyon, S. M.

    2009-01-01

    Fibromuscular dysplasia (FMD) describes a group of conditions which cause nonatheromatous arterial stenoses, most commonly of the renal and carotid arteries, typically in young women. We report a rare case of bilateral segmental renal infarction secondary to FMD in a young male patient. His initial presentation with loin pain and pyrexia resulted in a delay in the definitive diagnosis of FMD. He was successfully treated with bilateral balloon angioplasty. The delayed diagnosis in this patient until the condition had progressed to bilateral renal infarcts highlights the need for prompt investigation and diagnosis of suspected cases of FMD.

  5. Developmental delay

    Science.gov (United States)

    Nutrition support is essential for the care of the child with developmental delay. After a thorough evaluation, an individualized intervention plan that accounts for the child’s nutrition status, feeding ability, and medical condition may be determined. Nutrition assessments may be performed at leas...

  6. Developmental Work

    DEFF Research Database (Denmark)

    Møller, Niels; Hvid, Helge; Kristensen, Tage Søndergaard

    2003-01-01

    Human Deveoplment and Working Life - Work for Welfare explores whether the development of human resources at company level can improve individuals' quality of life, companies' possibilities of development, and welfare and democracy in society. Chapter two discuss the concept "developmental work...

  7. Fibrous dysplasia with cartilaginous differentiation (''fibrocartilaginous dysplasia''): a review, with an illustrative case followed for 18 years

    International Nuclear Information System (INIS)

    Kyriakos, Michael; McDonald, Douglas J.; Sundaram, Murali

    2004-01-01

    A 21-year-old man with an 18-year history of progressive, and deforming, monomelic fibrous dysplasia with massive cartilaginous differentiation (fibrocartilaginous dysplasia) is described. A review is made of all prior reported examples of this entity in the English language medical literature. The radiologic and histologic differential diagnoses are described, distinguishing the lesion from chondrosarcoma and from fibrocartilaginous mesenchymoma. (orig.)

  8. DNA Fingerprinting Abnormalities Can Distinguish Ulcerative Colitis Patients with Dysplasia and Cancer from Those Who Are Dysplasia/Cancer-Free

    Science.gov (United States)

    Chen, Ru; Rabinovitch, Peter S.; Crispin, David A.; Emond, Mary J.; Koprowicz, Kent M.; Bronner, Mary P.; Brentnall, Teresa A.

    2003-01-01

    Patients with extensive ulcerative colitis (UC) of longer than 8 years duration are at high risk for the development of colorectal cancer. The cancers in these patients appear to develop in a stepwise manner with progressive histological changes from negative for dysplasia → indefinite for dysplasiadysplasia → cancer. The aim of this study was to determine the timing and extent of genomic instability in the progression of UC dysplasia and cancer. Using two polymerase chain reaction (PCR)-based DNA fingerprinting methods, arbitrarily primed PCR and intersimple sequence repeat PCR, we assessed DNA sequence variation in biopsies across the spectrum of cancerous, dysplastic, and nondysplastic mucosa. UC patients with dysplasia/cancer had substantial genomic instability in both their dysplastic and nondysplastic colonic mucosa, whereas instability was not present in the majority of UC patients without dysplasia/cancer. The degree of instability in nondysplastic tissue was similar to that of dysplastic/cancerous mucosa from the same patient, suggesting that this instability was widespread and reached the maximum level early in neoplastic progression. These results suggest that UC patients who develop dysplasia or cancer have an underlying process of genomic instability in their colonic mucosa whereas UC patients who are dysplasia-free do not. PMID:12547724

  9. Arrhythmogenic right ventricular dysplasia: MRI findings

    International Nuclear Information System (INIS)

    Wall, E.E. van der; Bootsma, M.M.; Schalij, M.J.; Kayser, H.W.M.; Roos, A. de

    2000-01-01

    Arrhythmogenic right ventricular dysplasia (ARVD) is a heart muscle disorder of unknown cause that is characterized pathologically by fibrofatty replacement of the right ventricular myocardium. Clinical manifestations include structural and functional malformations of the right ventricle, electrocardiographic abnormalities, and presentation with ventricular tachycardias with left bundle branch pattern or sudden death. The disease is often familial with an autosomal inheritance. In addition to right ventricular dilatation, right ventricular aneurysms are typical deformities of ARVD and they are distributed in the so-called ''triangle of dysplasia'', i. e., right ventricular outflow tract, apex, and infundibulum. Ventricular aneurysms at these sites can be considered pathognomonic of ARVD. Another typical hallmark of ARVD is fibrofatty infiltration of the right ventricular free wall. These functional and morphologic characteristics are relevant to clinical imaging investigations such as contrast angiography, echocardiography, radionuclide angiography, ultrafast computed tomography, and magnetic resonance imaging (MRI). Among these techniques, MRI allows the clearest visualization of the heart, in particular because the right ventricle is involved, which is usually more difficult to explore with the other imaging modalities. Furthermore, MRI offers the specific advantage of visualizing adipose infiltration as a bright signal of the right ventricular myocardium. MRI provides the most important anatomic, functional, and morphologic criteria for diagnosis of ARVD within one single study. As a result, MRI appears to be the optimal imaging technique for detecting and following patients with clinical suspicion of ARVD. (orig.) [de

  10. Mondini dysplasia and congenital cytomegalovirus infection.

    Science.gov (United States)

    Bauman, N M; Kirby-Keyser, L J; Dolan, K D; Wexler, D; Gantz, B J; McCabe, B F; Bale, J F

    1994-01-01

    We report a case of bilateral temporal bone anomalies in a child with symptomatic congenital cytomegalovirus infection and severe, bilateral sensorineural hearing loss identified at 3 months of age. High-resolution temporal bone computed tomography (HRCT) revealed bilateral findings of a short, malformed cochlea lacking an interscalar septum, a short and wide internal auditory canal, and an enlarged vestibular aqueduct, features diagnostic of bilateral Mondini dysplasia. To determine the importance of this observation, we completed HRCT in five additional children between 7 months and 9 years of age who had evidence of symptomatic congenital cytomegalovirus infection. One child with profound sensorineural hearing loss had severe bilateral temporal bone dysplasia with a small cochlea lacking an interscalar septum, an abnormal vestibule, and a large cochlear aqueduct. Of the remaining four children, hearing thresholds ranged from normal to profoundly decreased, but their HRCT scans were normal to visual inspection. When inner ear dimensions of these temporal bones were compared with norms established by Pappas and coworkers, however, seven of the eight ears had short cochleas and narrow lateral semicircular canals, and three ears had short or narrow vestibules. These results indicate that congenital cytomegalovirus infection may cause anomalies or growth disturbances of the temporal bone.

  11. Placental Mesenchymal Dysplasia: A Case Report

    Directory of Open Access Journals (Sweden)

    Rachna Agarwal

    2012-01-01

    Full Text Available Introduction. A rare case of histologically proven placental mesenchymal dysplasia (PMD with fetal omphalocele in a 22-year-old patient is reported. Material and Methods. Antenatal ultrasound of this patient showed hydropic placenta with a live fetus of 17 weeks period of gestation associated with omphalocele. Cordocentesis detected the diploid karyotype of the fetus. Patient, when prognosticated, choose to terminate the pregnancy in view of high incidence of fetal and placental anomalies. Subsequent histopathological examination of placenta established the diagnosis to be placental mesenchymal dysplasia. Conclusion. On clinical and ultrasonic grounds, suspicion of P.M.D. arises when hydropic placenta with a live fetus presents in second trimester of pregnancy. Cordocentesis can detect the diploid karyotype of the fetus in such cases. As this condition is prognostically better than triploid partial mole, continuation of pregnancy can sometimes be considered after through antenatal screening and patient counseling. However, a definite diagnosis of P.M.D. is made only on placental histology by absence of trophoblast hyperplasia and trophoblastic inclusions.

  12. Trochleoplasty in major trochlear dysplasia: current concepts

    Directory of Open Access Journals (Sweden)

    Beaufils Philippe

    2012-02-01

    Full Text Available Abstract Trochleoplasty is the theoretical solution to persistent symptoms (pain and/or instability related to trochlear dysplasia where there is not only a trochlear flatness but also a trochlear prominence. The threshold of prominence indicating surgical intervention has as yet not been determined. A bump of 5 mm is generally accepted as the inferior limit. Given the interventional nature of this demanding procedure, it should be proposed in selected cases after considerable discussion with the patient. Trochleoplasty is indicated as a primary procedure for major trochlear dysplasia with a prominence > 5 mm. Stabilization is obtained in most of the cases with the risk of residual mild anterior knee pain. It is also indicated as a salvage procedure when a previous surgery failed. Despite the reputation of the procedure, the published results are encouraging in terms of prevention of re-dislocation, satisfaction index, and radiological outcomes. Post-operative stiffness is the main complication, which may require manipulation under anaesthesia or arthroscopic arthrolysis. There are few other complications reported and to date secondary necrosis of the trochlea has not been reported. Technically speaking, the deepening trochleoplasty is a difficult procedure without reliable landmarks. We propose a recession wedge trochleoplasty which is an easier procedure. It is never undertaken as an isolated procedure, but always in conjunction with other realignment procedures of the extensor apparatus according to the "a la carte" surgery concept.

  13. Septo-optic dysplasia with pachygyria

    Directory of Open Access Journals (Sweden)

    Abhay A Lune

    2014-01-01

    Full Text Available Optic nerve hypoplasia can be associated with other central nervous system malformations. When associated with the absence of the septum pellucidum or thinning of corpus callosum and pituitary hypoplasia, it is termed septo-optic dysplasia. Pachygyria is a rare congenital disorder characterized by a defect in migration of cerebral neurons resulting in failure of cortical gyri to develop.We report a case of a young learning-disabled male presenting with decreased vision, nystagmus, esotropia,, and seizures since childhood. Fundoscopy revealed bilateral optic nerve hypoplasia. Growth hormone levels were reduced. Magnetic resonance imaging revealed thinned optic nerves, optic chiasma and pituitary infundibulum, absent septum pellucidum, box-shaped ventricles and right frontal cortical thickening with few and broad gyri.This case report highlights a rare case of septo-optic dysplasia with pachygyria. It also emphasizes that every patient with optic nerve hypoplasia should have an endocrinal and neurological evaluation and neuro-radiographic imaging for associated abnormalities.

  14. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

    Science.gov (United States)

    Szafranski, Przemyslaw; Gambin, Tomasz; Dharmadhikari, Avinash V; Akdemir, Kadir Caner; Jhangiani, Shalini N; Schuette, Jennifer; Godiwala, Nihal; Yatsenko, Svetlana A; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Surti, Urvashi; Abellar, Rosanna G; Bateman, David A; Wilson, Ashley L; Markham, Melinda H; Slamon, Jill; Santos-Simarro, Fernando; Palomares, María; Nevado, Julián; Lapunzina, Pablo; Chung, Brian Hon-Yin; Wong, Wai-Lap; Chu, Yoyo Wing Yiu; Mok, Gary Tsz Kin; Kerem, Eitan; Reiter, Joel; Ambalavanan, Namasivayam; Anderson, Scott A; Kelly, David R; Shieh, Joseph; Rosenthal, Taryn C; Scheible, Kristin; Steiner, Laurie; Iqbal, M Anwar; McKinnon, Margaret L; Hamilton, Sara Jane; Schlade-Bartusiak, Kamilla; English, Dawn; Hendson, Glenda; Roeder, Elizabeth R; DeNapoli, Thomas S; Littlejohn, Rebecca Okashah; Wolff, Daynna J; Wagner, Carol L; Yeung, Alison; Francis, David; Fiorino, Elizabeth K; Edelman, Morris; Fox, Joyce; Hayes, Denise A; Janssens, Sandra; De Baere, Elfride; Menten, Björn; Loccufier, Anne; Vanwalleghem, Lieve; Moerman, Philippe; Sznajer, Yves; Lay, Amy S; Kussmann, Jennifer L; Chawla, Jasneek; Payton, Diane J; Phillips, Gael E; Brosens, Erwin; Tibboel, Dick; de Klein, Annelies; Maystadt, Isabelle; Fisher, Richard; Sebire, Neil; Male, Alison; Chopra, Maya; Pinner, Jason; Malcolm, Girvan; Peters, Gregory; Arbuckle, Susan; Lees, Melissa; Mead, Zoe; Quarrell, Oliver; Sayers, Richard; Owens, Martina; Shaw-Smith, Charles; Lioy, Janet; McKay, Eileen; de Leeuw, Nicole; Feenstra, Ilse; Spruijt, Liesbeth; Elmslie, Frances; Thiruchelvam, Timothy; Bacino, Carlos A; Langston, Claire; Lupski, James R; Sen, Partha; Popek, Edwina; Stankiewicz, Paweł

    2016-05-01

    Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. We describe novel deletion CNVs at the FOXF1 locus in 13 unrelated ACDMPV patients. Together with the previously reported cases, all 31 genomic deletions in 16q24.1, pathogenic for ACDMPV, for which parental origin was determined, arose de novo with 30 of them occurring on the maternally inherited chromosome 16, strongly implicating genomic imprinting of the FOXF1 locus in human lungs. Surprisingly, we have also identified four ACDMPV families with the pathogenic variants in the FOXF1 locus that arose on paternal chromosome 16. Interestingly, a combination of the severe cardiac defects, including hypoplastic left heart, and single umbilical artery were observed only in children with deletion CNVs involving FOXF1 and its upstream enhancer. Our data demonstrate that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16. Moreover, in one family, WES revealed a de novo missense variant in ESRP1, potentially implicating FGF signaling in the etiology of ACDMPV.

  15. Towards a unified classification of the ectodermal dysplasias: opportunities outweigh challenges.

    LENUS (Irish Health Repository)

    Irvine, Alan D

    2012-02-01

    The ectodermal dysplasias include a complex and highly diverse group of heritable disorders that share in common developmental abnormalities of ectodermal derivatives. The broader definition of ectodermal dysplasias (as heritable disorders involving at least two of the ectodermal derivatives nails, teeth, hair, and eccrine sweat glands) encompasses 170-200 conditions. Some conditions included by this definition are relatively common; others are rare and, in some cases, family-specific. Classification of the ectodermal dysplasias has largely been approached by categorizing patterns of clinical findings (phenotypic grouping). In the last 2 decades great progress has been made in understanding the molecular pathogenesis and inter-relatedness of some of these conditions and a new consensus approach to classification that incorporates this new information is needed. A comprehensive and definitive classification of these disorders would be highly valuable for the many stakeholders in ED. As disease-specific molecular treatments are developed, accurate classification will assume greater importance in designing registries to enable rapid identification of those with rare disorders who may wish to participate in clinical trials. Ideally a working classification of such a disparate collection of conditions would have a design and architecture that would facilitate easy accessibility by each of the key stakeholder groups and would encourage enhanced interaction between these parties. Attaining this objective is a major challenge but is achievable. This article reviews the historical-clinical perspective and the impact of recent developments in molecular biology in the field. Reflections are offered as to the future direction of classification systems in these disorders.

  16. Expanding the phenome and variome of skeletal dysplasia.

    Science.gov (United States)

    Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan E; Anazi, Shams; Ewida, Nour; Alsaif, Hessa S; Mohamed, Jawahir Y; Alazami, Anas M; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari, Muneera; Alsagheir, Afaf; Seidahmed, Mohammed Zain; Sogati, Samira; Aglan, Mona S; Hamad, Muddathir H; Salih, Mustafa A; Hamed, Ahlam A; Alhashmi, Nadia; Nabil, Amira; Alfadli, Fatima; Abdel-Salam, Ghada M H; Alkuraya, Hisham; Peitee, Winnie Ong; Keng, W T; Qasem, Abdullah; Mushiba, Aziza M; Zaki, Maha S; Fassad, Mahmoud R; Alfadhel, Majid; Alexander, Saji; Sabr, Yasser; Temtamy, Samia; Ekbote, Alka V; Ismail, Samira; Hosny, Gamal Ahmed; Otaify, Ghada A; Amr, Khalda; Al Tala, Saeed; Khan, Arif O; Rizk, Tamer; Alaqeel, Aida; Alsiddiky, Abdulmonem; Singh, Ankur; Kapoor, Seema; Alhashem, Amal; Faqeih, Eissa; Shaheen, Ranad; Alkuraya, Fowzan S

    2018-04-05

    PurposeTo describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.MethodsDetailed phenotyping and next-generation sequencing (panel and exome).ResultsOur analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal dysplasia. In addition, we propose 5 genes as candidate disease genes with suggestive biological links (WNT3A, SUCO, RIN1, DIP2C, and PAN2). Phenotypically, we note that our cohort spans 36 established phenotypic categories by the International Skeletal Dysplasia Nosology, as well as 18 novel skeletal dysplasia phenotypes that could not be classified under these categories, e.g., the novel C3orf17-related skeletal dysplasia. We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We note a strong founder effect for many genes in our cohort, which allowed us to calculate a minimum disease burden for the autosomal recessive forms of skeletal dysplasia in our population (7.16E-04), which is much higher than the global average.ConclusionBy expanding the phenotypic, allelic, and locus heterogeneity of skeletal dysplasia in humans, we hope our study will improve the diagnostic rate of patients with these conditions.GENETICS in MEDICINE advance online publication, 5 April 2018; doi:10.1038/gim.2018.50.

  17. Quantum physics. The bottom-up approach. From the simple two-level system to irreducible representations

    International Nuclear Information System (INIS)

    Dubbers, Dirk; Stoeckmann, Hans-Juergen

    2013-01-01

    Helps in a compact form to reach good understanding of quantum physics. Shows important analogies between problems across different disciplines. Concise and accurate, written in a readable and lively style. Concentrates on the simplest quantum system which still displays the basic features of quantum theory. Chapters end with a general outlook on multi-level systems. Results are applied to a multitude of topics in modern science, from particle physics and quantum optics to time standards and magnetic resonance imaging. This concise tutorial provides the bachelor student and the practitioner with a short text on quantum physics that allows them to understand a wealth of quantum phenomena based on a compact, well readable, yet still concise and accurate description of nonrelativistic quantum theory. This ''quadrature of the circle'' is achieved by concentrating first on the simplest quantum system that still displays all basic features of quantum theory, namely, a system with only two quantized energy levels. For most readers it is very helpful to understand such simple systems before slowly proceeding to more demanding topics like particle entanglement, quantum chaos, or the use of irreducible tensors. This tutorial does not intend to replace the standard textbooks on quantum mechanics, but will help the average student to understand them, often for the first time.

  18. Prosthodontic management of a patient with ectodermal dysplasia.

    Science.gov (United States)

    Nandini, Yamini

    2013-12-01

    Ectodermal dysplasia is a rare congenital disease that affects the ectodermal structures. It is characterized by hypotrichosis, hypohidrosis and hypodontia. A 14-year-old boy with ectodermal dysplasia presenting with oligodontia and marked resorption of the maxillary and mandibular alveolar ridges is reported. Prosthetic rehabilitation in the form of a maxillary and mandibular partial denture was made with metal crowns on existing lower teeth to achieve appropriate vertical dimension. Significant improvement in speech, masticatory function and facial esthetics was achieved. Removable prosthodontics can provide an acceptable solution to esthetic, functional and psychological rehabilitation in patients with ectodermal dysplasia.

  19. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

    Directory of Open Access Journals (Sweden)

    Reema Sharma Dhar

    2014-01-01

    Full Text Available Ectrodactyly-ectodermal dysplasia-cleft (EEC syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

  20. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

    Science.gov (United States)

    Dhar, Reema Sharma; Bora, Amitava

    2014-01-01

    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

  1. Polypoidal Intestinal Metaplasia and Dysplasia of the External Urethral Meatus

    Directory of Open Access Journals (Sweden)

    Mary Mathew

    2012-01-01

    Full Text Available Urethral mucosa with intestinal metaplasia and dysplasia is a rare occurrence. To date only a single case has been reported in a male with long-standing urethral stricture. We present a 33-year-old female with polypoid intestinal metaplasia and dysplasia of the external urethral meatus in the absence of an inciting factor. Intestinal metaplasia of the urethral mucosa may undergo dysplasia, emphasizing the necessity of a high degree of clinical suspicion and vigilant pathological examination of these lesions.

  2. Focal cemento-osseous dysplasia masquerading as a residual cyst.

    Science.gov (United States)

    Bhandari, Rajat; Sandhu, Simarpreet V; Bansal, Himanta; Behl, Rashi; Bhullar, Ramanpreet Kaur

    2012-04-01

    Focal cemento-osseous dysplasia (FCOD) is a benign fibroosseous condition that can be seen in dentulous and edentulous patients. It is an asymptomatic lesion and needs no treatment; however, follow-up is essential due to the possibility that it can progress to a condition called florid cemento-osseous dysplasia. We report a case of FCOD of mandible in a 25-year-old female. Clinically, the lesion resembled periapical pathosis of odontogenic origin. An attempt has been made to discuss the clinical and histopathologic features along with differential diagnosis of cemento-osseous dysplasia.

  3. Focal cemento-osseous dysplasia masquerading as a residual cyst

    Directory of Open Access Journals (Sweden)

    Rajat Bhandari

    2012-01-01

    Full Text Available Focal cemento-osseous dysplasia (FCOD is a benign fibroosseous condition that can be seen in dentulous and edentulous patients. It is an asymptomatic lesion and needs no treatment; however, follow-up is essential due to the possibility that it can progress to a condition called florid cemento-osseous dysplasia. We report a case of FCOD of mandible in a 25-year-old female. Clinically, the lesion resembled periapical pathosis of odontogenic origin. An attempt has been made to discuss the clinical and histopathologic features along with differential diagnosis of cemento-osseous dysplasia.

  4. [Florid cemento-osseous dysplasia of the jaws].

    Science.gov (United States)

    Benazzou, S; Boulaadas, M; El Ayoubi, A; Nazih, N; Essakalli, L; Kzadri, M

    2011-06-01

    Florid cemento-osseous dysplasia is a benign and rare tumor of the jaws. It is more commonly seen in middle-aged black women. Most cases are asymptomatic and are found during routine radiographic examination. We report two complicated cases of florid cemento-osseous dysplasia, one with facial deformity and the other with chronic osteitis. The diagnosis of florid cemento-osseous dysplasia is based on clinical and radiological features. The lesions are commonly bilateral and symmetrical. Copyright © 2011. Published by Elsevier Masson SAS.

  5. Fibrous Dysplasia versus Juvenile Ossifying Fibroma: A Dilemma

    Directory of Open Access Journals (Sweden)

    Sreelakshmi N. Nair

    2016-01-01

    Full Text Available Fibrous dysplasia (FD is a condition characterized by excessive proliferation of bone forming mesenchymal cells which can affect one bone (monostotic type or multiple bones (polyostotic type. It is predominantly noticed in adolescents and young adults. Fibrous dysplasia affecting the jaws is an uncommon condition. The most commonly affected facial bone is the maxilla, with facial asymmetry being the chief complaint. The lesion in many instances is confused with ossifying fibroma (OF. Diagnosis of these two lesions has to be done based on clinical, radiographic, and microscopic findings. Here, we present a case of fibrous dysplasia of maxilla in a nine-year-old boy mimicking juvenile ossifying fibroma.

  6. [Protein-energy malnutrition in patients with connective tissue dysplasia].

    Science.gov (United States)

    Lialiukova, E A

    2013-01-01

    In the conditions of the specialized Center of a dysplasia of a connecting tissue the assessment of an protein--energy malnutrition at 121 patients with signs of a dysplasia of a connecting tissue is carried out. High frequency of an oligotrophy at patients with a dysplasia of a connecting tissue is registered. The I degree of a gipotorofiya is taped at 26.21% of the patients, II degree--at 18.44%, the III degree--at 3.88% of patients.

  7. A new type of spondylo-metaphyseal dysplasia - Algerian type

    International Nuclear Information System (INIS)

    Kozlowski, K.; Bacha, L.; Massen, R.; Ayati, M.; Sator, S.; Brahimi, L.

    1988-01-01

    A new, dominantly inherited, severe form of spondylometaphyseal dysplasia in five members of an Algerian family is reported. Another child, not investigated, was also probably affected. The disease is characterised by a unique clinical and radiological set of features: dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. In view of the geographical localisation of the disorder and the anatomical distribution we propose the name Algerian type of spondylo-metaphyseal dysplasia. (orig.)

  8. Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Mostert, A.K. [Isala Clinics, Location Weezenlanden, Dept. of Orthopaedic Surgery, Zwolle (Netherlands); Dijkstra, P.F. [Jan van Breemen Inst., Dept. of Radiology, Amsterdam (Netherlands); Horn, J.R. van [Univ. Hospital Groningen, Dept. of Orthopaedic Surgery, Groningen (Netherlands); Jansen, B.R.H. [Reinier de Graaf Hospital, Dept. of Orthopaedic Surgery, Delft (Netherlands); Heutink, P. [Erasmus MCRotterdam, Dept. of Clinical Genetics, Rotterdam (Netherlands); Lindhout, D. [Univ. Medical Centre Utrecht, Dept. of Medical Genetics, Utrecht (Netherlands)

    2002-07-01

    Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959, is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84 family members, performed a medical history, physical examination and made a radiological evaluation for defining a clinical and radiological phenotype of BHMED family members. We used blood samples for genetic analysis. Results: Although there is a clear clinical picture of the dysplasia, the radiological signs are more reliable for making the diagnosis. Especially the typical deformity of the hip and knee joint are diagnostic for BHMED. By linkage analysis we excluded linkage with the three known MED-loci (EDM1, EDM2 and EDM3). Conclusion: BHMED is indeed an entity that is distinct from common multiple epiphyseal dysplasia (MED), clinically, as well as radiologically and genetically. (orig.) [German] Ziel: Es sollte dargelegt werden, dass sich eine vererbliche, laterale Mikro-Epiphysendysplasie (BHMED), Erstbeschreibung durch Elsbach 1959, klinisch, radiologisch und genetisch von einer mutiplen Epiphysendysplasie (MED) unterscheidet. Material und Methode: Anhand der Daten eines ueberarbeiteten Stammbaumes mit 84 Familienmitgliedern wurde der medizinische Werdegang rekonstruiert. Es erfolgte eine physische Untersuchung der Familienmitglieder. Schliesslich wurde eine radiologische Auswertung durchgefuehrt, um einen klinischen und radiologischen Phaenotyp der von BHMED betroffenen Familienmitglieder zu definieren. Fuer eine genetische Analyse wurden Blutproben entnommen. Ergebnisse: Obwohl es ein deutliches klinisches Bild einer Dysplasie gibt, sind die radiologischen Kennzeichen fuer die Diagnose zuverlaessiger. Insbesondere die typische Deformation der Huefte und des Kniegelenks ist diagnostisch fuer BHMED. Durch Linkage-Analyse konnte eine Verbindung zu den drei bekannten

  9. Ipsilateral Hip Dysplasia in Patients with Sacral Hemiagenesis: A Report of Two Cases

    Directory of Open Access Journals (Sweden)

    Tadatsugu Morimoto

    2015-01-01

    Full Text Available Sacral agenesis (SA is a rare condition consisting of the imperfect development of any part of the sacrum. This paper describes two cases of the rare cooccurrence of ipsilateral SA and developmental dysplasia of the hip (DDH and analyzes possible contributory factors for SA and DDH. Each of a 16-year-old female and 13-year-old female visited our hospital for left hip pain and limping. The findings of physical examinations showed a lower limb length discrepancy (left side in both cases, as well as left hip pain without limitations of the range of motion or neurological deficits. Initial radiographs demonstrated left subluxation of the left hip with associated acetabular dysplasia and partial left sacral agenesis. MRI revealed a tethering cord with a fatty filum terminale, and periacetabular osteotomy combined with allogeneic bone grafting was performed. After the surgery, the patients experienced no further pain, with no leg length discrepancy and were able to walk without a limp, being neurologically normal with a normal left hip range of motion. The cooccurrence of SA and DDH suggests a plausible hypothesis to explain the embryogenic relationship between malformation of the sacrum and hip.

  10. Hip instability: a review of hip dysplasia and other contributing factors

    Science.gov (United States)

    Kraeutler, Matthew J.; Garabekyan, Tigran; Pascual-Garrido, Cecilia; Mei-Dan, Omer

    2016-01-01

    Summary Background Hip instability has classically been associated with developmental dysplasia of the hip (DDH) in newborns and children. However, numerous factors may contribute to hip instability in children, adolescents, and adults. Purpose This review aims to concisely present the literature on hip instability in patients of all ages in order to guide health care professionals in the appropriate diagnosis and treatment of the various disorders which may contribute to an unstable hip. Methods We reviewed the literature on the diagnosis and surgical management of hip dysplasia and other causes of hip instability. Conclusions Multiple intra- and extra-articular variables may contribute to hip instability, including acetabular bony coverage, femoral torsion, femoroacetabular impingement, and soft tissue laxity. Physical examination and advanced imaging studies are essential to accurately diagnose the pathology contributing to a patient’s unstable hip. Conservative management, including activity modification and physical therapy, may be used as a first-line treatment in patients with intra-articular hip pathology. Patients who continue to experience symptoms of pain or instability should proceed with arthroscopic or open surgical treatment aimed at correcting the underlying pathology. Level of evidence V. PMID:28066739

  11. Generation and characterization of function-blocking anti-ectodysplasin A (EDA) monoclonal antibodies that induce ectodermal dysplasia.

    Science.gov (United States)

    Kowalczyk-Quintas, Christine; Willen, Laure; Dang, Anh Thu; Sarrasin, Heidi; Tardivel, Aubry; Hermes, Katharina; Schneider, Holm; Gaide, Olivier; Donzé, Olivier; Kirby, Neil; Headon, Denis J; Schneider, Pascal

    2014-02-14

    Development of ectodermal appendages, such as hair, teeth, sweat glands, sebaceous glands, and mammary glands, requires the action of the TNF family ligand ectodysplasin A (EDA). Mutations of the X-linked EDA gene cause reduction or absence of many ectodermal appendages and have been identified as a cause of ectodermal dysplasia in humans, mice, dogs, and cattle. We have generated blocking antibodies, raised in Eda-deficient mice, against the conserved, receptor-binding domain of EDA. These antibodies recognize epitopes overlapping the receptor-binding site and prevent EDA from binding and activating EDAR at close to stoichiometric ratios in in vitro binding and activity assays. The antibodies block EDA1 and EDA2 of both mammalian and avian origin and, in vivo, suppress the ability of recombinant Fc-EDA1 to rescue ectodermal dysplasia in Eda-deficient Tabby mice. Moreover, administration of EDA blocking antibodies to pregnant wild type mice induced in developing wild type fetuses a marked and permanent ectodermal dysplasia. These function-blocking anti-EDA antibodies with wide cross-species reactivity will enable study of the developmental and postdevelopmental roles of EDA in a variety of organisms and open the route to therapeutic intervention in conditions in which EDA may be implicated.

  12. Generation and Characterization of Function-blocking Anti-ectodysplasin A (EDA) Monoclonal Antibodies That Induce Ectodermal Dysplasia*

    Science.gov (United States)

    Kowalczyk-Quintas, Christine; Willen, Laure; Dang, Anh Thu; Sarrasin, Heidi; Tardivel, Aubry; Hermes, Katharina; Schneider, Holm; Gaide, Olivier; Donzé, Olivier; Kirby, Neil; Headon, Denis J.; Schneider, Pascal

    2014-01-01

    Development of ectodermal appendages, such as hair, teeth, sweat glands, sebaceous glands, and mammary glands, requires the action of the TNF family ligand ectodysplasin A (EDA). Mutations of the X-linked EDA gene cause reduction or absence of many ectodermal appendages and have been identified as a cause of ectodermal dysplasia in humans, mice, dogs, and cattle. We have generated blocking antibodies, raised in Eda-deficient mice, against the conserved, receptor-binding domain of EDA. These antibodies recognize epitopes overlapping the receptor-binding site and prevent EDA from binding and activating EDAR at close to stoichiometric ratios in in vitro binding and activity assays. The antibodies block EDA1 and EDA2 of both mammalian and avian origin and, in vivo, suppress the ability of recombinant Fc-EDA1 to rescue ectodermal dysplasia in Eda-deficient Tabby mice. Moreover, administration of EDA blocking antibodies to pregnant wild type mice induced in developing wild type fetuses a marked and permanent ectodermal dysplasia. These function-blocking anti-EDA antibodies with wide cross-species reactivity will enable study of the developmental and postdevelopmental roles of EDA in a variety of organisms and open the route to therapeutic intervention in conditions in which EDA may be implicated. PMID:24391090

  13. Irreducible coupling between physical and biological phenomena: overview of on-line and off-line physical measurements during high cell density cultures of yarrowia lipolytica

    OpenAIRE

    Kraiem, Hazar; Manon, Yannick; Anne-Archard, Dominique; Fillaudeau, Luc

    2012-01-01

    During cell cultures in bioreactor, micro-organism physiology closely interacts with physico-chemical parameters (gas and feed flow rates, mixing, temperature, pH, pressure). The specificity of microbial bioreactions in relation with irreducible couplings between heat and mass transfers and fluid mechanics, led into complex (three phases medium) and dynamic (auto-biocatalytic reaction) systems. Our scientific approach aims to investigate, understand and control dynamic interactions between ph...

  14. MRI findings of dysplasia epiphysealis hemimelica

    Energy Technology Data Exchange (ETDEWEB)

    Iwasawa, T. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan); Aida, N. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan)]|[Kanagawa Children`s Medical Center, Yokohama (Japan); Kobayashi, N. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan)]|[Kanagawa Children`s Medical Center, Yokohama (Japan); Nishimura, G. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan)]|[Dept. of Radiology, School of Medicine, Dokkyou Univ., Tochigi (Japan)

    1996-01-01

    We report a boy with dysplasia epiphysealis hemimelica of the knee, particularly emphasizing MRI findings. When he was 14 months of age, plain radiography exhibiting juxta-articular soft tissue mass with small, punctate, calcified foci did not warrant the definitive diagnosis, while MRI clearly demonstrated osteocartilaginous overgrowth of the femoral epiphysis. The epiphyseal mass mostly showed the same signal intensity as normal cartilage but contained low signal spots corresponding to calcified foci. The cartilaginous cap was depicted as a mottled area of high intensity on a T2-weighted image. When the patient was 4 years of age, this ossified mass was resected surgically and pathologically identified as osteochondroma incorporated into the epiphysis. (orig.)

  15. Florid Cementoosseous Dysplasia: A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Mehmet Fatih Şentürk

    2013-01-01

    Full Text Available Florid cementoosseous dysplasia (FCOD is a rare, benign, fibroosseous, and multifocal dysplastic lesion of the jaw that consists of cellular fibrous connective tissue with bone and cementum-like tissue. FCOD is most commonly found in middle-aged black women, is generally asymptomatic, and is usually detected during radiological examination. FCOD associated with multiple impacted teeth and bone expansion is a very rare phenomenon, and there are only a few familial cases reported in the literature. In this report, a 35-year-old male Turkish patient is presented who was diagnosed with nonfamilial FCOD from clinical, radiological, and histopathological findings. To our knowledge this is the first case of the nonfamilial FCOD with this many impacted teeth and severely expanded bones.

  16. Four cases of right ventricular dysplasia

    International Nuclear Information System (INIS)

    Takamura, Ichiro; Ando, Joji; Miyamoto, Atsushi; Kobayashi, Takeshi; Sakamoto, Sanya; Yasuda, Hisakazu

    1985-01-01

    Finding of 81 Kr right ventriculography and 201 Tl myocardial perfusion imaging in 4 patients with right ventricular dysplasia (RVD) were compared with those in 28 patients with dilated cardiomyopathy. Remarkably dilated right ventricle was detected on 201 Tl myocardial perfusion imaging in the RVD group. In a patient with RVD who died suddenly, perfusion defect of the left ventricular myocardium, a decreased right ventricular ejection fraction, and an increased right ventricular end diastolic volume were seen. Perfusion defect of the left ventricular myocardium was seen in 10 of the 28 patients with dilated cardiomyopathy, 4 of whom died suddenly. In these 4 patients, a decreased left ventricular ejection fraction and an increased right ventricular end diastolic volume were seen. These findings obtained by the radionuclide techniques suggested that there are differences in cardiac dysfunction of the both ventricles between the groups with RVD and dilated cardiomyopathy. (Namekawa, K.)

  17. Focal cemento-osseous dysplasia of mandible.

    Science.gov (United States)

    Cankaya, Abdülkadir Burak; Erdem, Mehmet Ali; Olgac, Vakur; Firat, Deniz Refia

    2012-09-03

    Fibro-osseous lesions are disturbances in bone metabolism in which normal bone is replaced by a connective tissue matrix that then gradually develops into cemento-osseous tissue. Typically, the lesion is asymptomatic and is detected on routine radiographic examination. Radiologically, this lesion has three stages of maturation: pure radiolucent, radiopaque/mixed radiolucent, and radiopaque appearance. During these stages the lesion can be misdiagnosed. In this case report a 69-year- old patient with a a complaint of painless swelling of the left mandibular molar and premolar area is presented along with a review of the differential diagnoses considered in order to reach a final diagnosis of focal cemento-osseous dysplasia.

  18. Nonfamilial cleidocranial dysplasia (dysostosis): a case report

    International Nuclear Information System (INIS)

    Salem, G

    1990-01-01

    Cleidocranial dysplasia, previously known as cleidocranial dysostosis, is a rare hereditary disease of unknown etiology characterized by abnormalities in the skull, jaws, shoulder girdle, as well as abnormalities of the dentition. The disease usually follows an autosomal dominant mode of transmission. This is a report on a case in a 25-year-old Saudi female from Gizan, Saudi Arabia, which seemes to be the first case reported in the Kingdom. An outstanding feature of this case is that it did not follow a familial pattern of inheritance since the patient is the only member of the family suffering from such disorder. The abnor malities present in the dentition are described together with the associated skeletal malformations. The clin ical and radiographic findings, as well as the hereditary pattern of the disease as described in the literature, are discussed. The dental management of these cases is reviewed. (author)

  19. Guidelines for genetic skeletal dysplasias for pediatricians

    Directory of Open Access Journals (Sweden)

    Sung Yoon Cho

    2015-12-01

    Full Text Available Skeletal dysplasia (SD is a kind of heterogeneous genetic disorder characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. The patients with SD most likely to be seen by a pediatrician or orthopedic surgeon are those who present with short stature in childhood. Because each category has so many diseases, classification is important to understand SD better. In order to diagnose a SD accurately, clinical and radiographic findings should be evaluated in detail. In addition, genetic diagnosis of SD is important because there are so various SDs with complex phenotypes. To reach an exact diagnosis of SDs, cooperative approach by a clinician, a radiologist and a geneticist is important. This review aims to provide an outline of the diagnostic approach for children with disproportional short stature.

  20. Hypohidrotic ectodermal dysplasia: a multidisciplinary approach.

    Science.gov (United States)

    Bildik, Tezan; Ozbaran, Burcu; Kose, Sezen; Koturoglu, Guldane; Gokce, Bulent; Gunaydin, Asli; Altintas, Inci

    2012-01-01

    Hypohidrotic ectodermal dysplasia (HED; Christ-Siemens-Touraine syndrome) is a genetic disorder characterized by sparse hair, oligodontia with peg-shaped teeth, reduced sweating, and defects in a number of other ectodermal organs. A partial or complete absence of eccrine glands can lead to recurrent severe overheating that may cause seizures and neurological deficits. This clinical report presents a 14-year-old male patient with hypohidrotic ectodermal dysplasia, including the clinical and radiographic findings, and multidisciplinary treatment. The Schedule for Affective Disorders and Schizophrenia for School Aged Children-Present and Lifetime Version (K-SADS-PL) was administered to patient along with mother to assess for any psychiatric disorders. The screening and rating scales completed by mother and two teachers to evaluate the severity of attention deficit hyperactivity disorder (ADHD) symptoms, and other behavioral problems. Patient's academic performance, adaptive functioning, and problem behavior was evaluated using. The Teacher Report Form. Mental capacity was assessed with the Wechsler Intelligence Scale for Children (WISC-R). Illness Perception Questionnaire Revised was used to systematically assess illness representation attributes and emotional representations of illness. On the psychiatric diagnosis assessment using K-SADS-PL sub-threshold attention deficits and anxiety symptoms were determined. In this case we established a multidisciplinary approach in his treatment with pediatric, dermatological, and dental examinations, beside his psychiatric evaluation. The prosthetic rehabilitation included restoring upper teeth with copings and fabrication of upper and lower complete dentures. Metal framework was not incorporated in the partial denture design allowing modifications as the oral and maxillofacial development continued. Removable complete or partial dentures without metal framework is a treatment of choice until the completion of facial growth at

  1. An unusual case of ectodermal dysplasia: combating senile features at an early age

    Science.gov (United States)

    Gupta, Mudit; Sundaresh, Kumbar Jayadevappa; Batra, Manu; Rathva, Vandana J

    2014-01-01

    Ectodermal dysplasia (ED) refers to a group of inherited diseases that have developmental defects in at least two major structures derived from the ectoderm, that is, hair, teeth, nails and sweat glands. Although more than 192 distinct disorders have been described, the most common is X-linked recessive hypohidrotic ED (Christ-Siemens-Touraine syndrome). Since such patients usually presents with missing teeth, dentists are usually the first person to diagnose such cases. Diagnosis of such cases is important because absence of sweat glands can lead to hyperthermia which can be life-threatening if proper care is not taken. Through this manuscript, we report a case of anhidrotic ED affecting deciduous and permanent dentition, which is rare. PMID:24493109

  2. Dental Perspectives in Fibrous Dysplasia and McCune-Albright Syndrome

    Science.gov (United States)

    Akintoye, Sunday O.; Boyce, Alison M.; Collins, Michael T.

    2013-01-01

    McCune-Albright syndrome (MAS) is a rare multisystem disorder characterized by the triad of polyostotic fibrous dysplasia (PFD), endocrine disorders and café-au-lait skin pigmentation. Ninety percent of MAS patients have FD lesions in the craniofacial area, resulting in significant orofacial deformity, dental disorders, bone pain and compromised oral health. Maxillo-mandibular FD is also associated with dental developmental disorders, malocclusion, and high caries index. There is limited data on the outcomes of dental treatments in maxillo-mandibular FD/MAS patients, because clinicians and researchers have limited access to patients, and there are concerns that dental surgery may activate quiescent jaw FD lesions to grow aggressively. This report highlights current perspectives on dental management issues associated with maxillo-mandibular FD within the context of MAS. PMID:23953425

  3. Anomalies of tooth formation in hypohidrotic ectodermal dysplasia

    DEFF Research Database (Denmark)

    Lexner, Michala O; Bardow, Allan; Hertz, Jens Michael

    2007-01-01

    OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study is the fi......OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study...... affected males had multiple missing permanent teeth and tooth malformations. The heterozygous females had a significantly higher frequency of agenesis of permanent teeth compared to normative data. The heterozygous females had an increased prevalence of tooth malformations and reduced tooth size...

  4. Müllerian agenesis with hypohidrotic ectodermal dysplasia syndrome.

    Science.gov (United States)

    Whaley, Katie; Winter, Jordan; Eyster, Kathleen M; Hansen, Keith A

    2012-04-01

    To describe the association of müllerian agenesis with hypohidrotic ectodermal dysplasia. Case report. University medical center. A 17-year-old woman with hypohidrotic ectodermal dysplasia referred for evaluation of primary amenorrhea. History, physical examination, and ultrasound. Physical findings of these two syndromes. Physical examination and ultrasound demonstrated müllerian agenesis with findings of hypohidrotic ectodermal dysplasia. This is the first description of the association of müllerian agenesis with ectodermal dysplasia. This rare case might provide further insight into the development of the uterus and the ectoderm as well as its derivatives. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  5. Anhidrotic Ectodermal Dysplasia with Palmo-plantar Keratoderma

    Directory of Open Access Journals (Sweden)

    Kamlesh Kumar

    1982-01-01

    Full Text Available A patient with anhidrotic ectodermal dysplasia and palmo-plantar keratoderma is presented. Palmo-planta keratoderma is an unusual association with this disease. Atopic dermatitis was another associated condition in this patient.

  6. Ehlers-Danlos syndrome with monostotic fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Rao A

    1979-01-01

    Full Text Available An unusual case of Ehlers-Danlos syndrome with monostotic fibrous dysplasia of the humorus is presented. The other orthopae-dic manifestations, its complications and associated features are re-viewed and summarised.

  7. Cemento-osseous dysplasia in Jamaica: review of six cases.

    Science.gov (United States)

    Ogunsalu, C; Miles, D

    2005-09-01

    Six cases of cemento-osseous dysplasia (COD) of the jaw bone in Jamaicans are reviewed. Five were documented over a 15-year period (1980-1995). These include a case of florid cemento-osseous dysplasia (previously called gigantiform cementoma). Three of the initial cases were histologically diagnosed as gigantiform cementoma. There was no indication in the patient's case file whether these were familial or non-familial. The other two cases were diagnosed histologically as periapical cemento-osseous dysplasia and cementoblastoma respectively. Based on the current understanding of the nature of florid-cemento-osseous dysplasia (FLCOD), a new case was diagnosed as such solely on radiological findings. This single case of FLCOD is reported and discussed against the background of other cemento-osseous lesions. Special emphasis is placed on the radiology of COD in this paper. The confirmative role of radiology without the need for histophathology and treatment for asymptomatic FLCOD is emphasized.

  8. Omphalocele and alveolar capillary dysplasia: a new association.

    NARCIS (Netherlands)

    Gerrits, L.C.; Mol, A.C. de; Bulten, J.; Staak, F.H.J.M. van der; Heijst, A.F.J. van

    2010-01-01

    OBJECTIVE: First report of an infant with coexistent omphalocele and alveolar capillary dysplasia. DESIGN: Descriptive case report. SETTING: Neonatal intensive care unit of a tertiary care children's hospital. PATIENT: We describe a term infant with omphalocele and respiratory insufficiency

  9. Electrocorticographic discharge patterns in glioneuronal tumors and focal cortical dysplasia

    NARCIS (Netherlands)

    Ferrier, Cyrille H.; Aronica, Eleanora; Leijten, Frans S. S.; Spliet, Wim G. M.; van Huffelen, Alexander C.; van Rijen, Peter C.; Binnie, Colin D.

    2006-01-01

    PURPOSE: To determine whether highly epileptiform electrocorticographical discharge patterns occur in patients with glioneuronal tumors (GNTs) and focal cortical dysplasia (FCD) and whether specific histopathological features are related to such patterns. METHODS: The series consists of operated

  10. Urethral dysontogenic metaplasia in cat with bilateral renal dysplasia

    Directory of Open Access Journals (Sweden)

    Carolina da Fonseca Sapin

    2017-10-01

    Full Text Available This paper to describe a case of dysontogenic urethral metaplasia in a one month old mongrel feline who also had bilateral renal dysplasia. Dysontogenic metaplasia in cats are scarce and this change may be associated with renal dysplasia and/or lower urinary tract. The animal had history of abdominal enlargement since birth and dysuria, eliminating urine only dropwise. Due to the poor prognosis we opted for euthanasia. At necropsy was observed enlarged and distended bladder, reduced kidneys and dilated and tortuous ureters. The urethra was thickened, hard to cut, and histologically, was replacing the connective tissue, cartilage and endochondral ossification areas, which features dysontogenic metaplasia. Both kidneys presented primitive appearance featuring dysplasia. Dysontogenic metaplasia in urinary tract feline with renal dysplasia, has not been described.

  11. Hereditary hypohidrotic ectodermal dysplasia: report of a rare case.

    Science.gov (United States)

    Paramkusam, Geetha; Meduri, Venkateswarlu; Nadendla, Lakshmi Kavitha; Shetty, Namratha

    2013-09-01

    Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers. It is characterised by congenital dysplasia of one or more ectodermal structures and it is manifested by hypohidrosis, hypotrichosis and hypodontia. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Here, we are presenting a rare case of HHED in a 19 year female with classic features of this condition.

  12. Brachial artery aneurysm and thrombosis secondary to fibromuscular dysplasia

    Directory of Open Access Journals (Sweden)

    Julia Louise Jones, MBBS

    2016-09-01

    Full Text Available Fibromuscular dysplasia is a pathologic process causing stenosis and dilation of medium-caliber arteries of unknown etiology. It most commonly affects the renal and carotid arteries; however, it has been described in virtually all anatomic areas, including, rarely, the brachial artery. We describe a case of brachial artery aneurysm and thrombosis in a 29-year-old man secondary to fibromuscular dysplasia, treated surgically with excision, embolectomy, interposed vein graft, and anticoagulation.

  13. Adult-onset Rasmussen encephalitis associated with focal cortical dysplasia.

    Science.gov (United States)

    Hohenbichler, Katharina; Lelotte, Julie; Lhommel, Renaud; Tahry, Riëm El; Vrielynck, Pascal; Santos, Susana Ferrao

    2017-12-01

    Rasmussen encephalitis is a rare, devastating condition, typically presenting in childhood. Cases of adult-onset Rasmussen have also been described, but the clinical picture is less defined, rendering final diagnosis difficult. We present a case of adult-onset Rasmussen encephalitis with dual pathology, associated with focal cortical dysplasia and encephalitis. We interpreted the Rasmussen encephalitis to be caused by severe and continuous epileptic activity due to focal cortical dysplasia. The best therapeutic approach for such cases remains unclear.

  14. Chondrosarcoma occurring in a patient with polyostotic fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    De Smet, A.A.; Travers, H.; Neff, J.R.

    1981-12-01

    A 36-year-old white man with polyostotic fibrous dysplasia was found to have a high-grade chondrosarcoma arising from the left ilium. Although a left hemipelvectomy was performed, the patient subsequently developed sacral and pulmonary metastases and succumbed to his disease. This patient represents the first documented example of an unequivocally high-grade chondrosarcoma arising in an area of fibrous dysplasia without prior irradiation.

  15. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome

    Directory of Open Access Journals (Sweden)

    Mohita Marwaha

    2012-01-01

    Full Text Available The ectodermal dysplasias (EDs are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias. Commonly involved ectodermal-derived structures are hair, teeth, nails, and sweat glands. In some conditions, it may be associated with mental retardation. We report a case of 10-year-old male child with ectrodactyly, syndactyly, ED, cleft lip/palate, hearing loss, and mental retardation.

  16. The association between gender and familial prevalence of hip dysplasia in Danish patients

    DEFF Research Database (Denmark)

    El Jashi, Rima; Gustafson, Maria B; Jakobsen, Mette B

    2017-01-01

    BACKGROUND: The development of hip dysplasia is associated with several risk factors. 1 of these risk factors is gender, since 80% of patients with symptomatic hip dysplasia are females. Another risk factor for hip dysplasia is familial predisposition of hip dysplasia. Several studies indicate...... that the risk of hip dysplasia is increased with familial prevalence of hip dysplasia. However, little is known about the association between the familial prevalence and gender and the development of hip dysplasia. PURPOSE: The aim of the study was to estimate the prevalence of hip dysplasia among relatives...... to Danish patients with hip dysplasia operated with periacetabular osteotomy (PAO), and the degree of relationship of affected family members. Furthermore, to assess the association between gender and family predisposition in the same group of patients. METHOD: The study is a cross-sectional study...

  17. Is There a Relationship between Ovarian Epithelial Dysplasia and Infertility?

    Directory of Open Access Journals (Sweden)

    Gautier Chene

    2012-01-01

    Full Text Available Aim. Ovarian epithelial dysplasia was initially described in material from prophylactic oophorectomies performed in patients at genetic risk of ovarian cancer. Similar histopathological abnormalities have been revealed after ovulation stimulation. Since infertility is also a risk factor for ovarian neoplasia, the aim of this study was to study the relationship between infertility and ovarian dysplasia. Methods. We blindly reviewed 127 histopathological slides of adnexectomies or ovarian cystectomies according to three groups—an exposed group to ovulation induction (n = 30, an infertile group without stimulation (n = 35, and a spontaneously fertile control group (n = 62—in order to design an eleven histopathological criteria scoring system. Results. The ovarian dysplasia score was significantly higher in exposed group whereas dysplasia score was low in infertile and control groups (resp., 8.21 in exposed group, 3.69 for infertile patients, and 3.62 for the controls. In the subgroup with refractory infertility there was a trend towards a more severe dysplasia score (8.53 in ovulation induction group and 5.1 in infertile group. Conclusion. These results raise questions as to the responsibility of drugs used to induce ovulation and/or infertility itself in the genesis of ovarian epithelial dysplasia.

  18. Hypohidrotic ectodermal dysplasia: a clinical case with a longitudinal approach.

    Science.gov (United States)

    Fraiz, Fabian Calixto; Gugisch, Renato Cordeiro; Cavalcante-Leão, Bianca Lopes; Macedo, Liliane Moreira

    2014-11-01

    This paper describes a clinical case of a male with hypohidrotic ectodermal dysplasia submitted to rehabilitation and occlusal dental interventions with follow-up from 3 to 14 years of age. Due to the severe effects on function and esthetics, the clinical manifestations of ectodermal dysplasia exert a negative impact on quality of life. However, oral rehabilitation in childhood poses a challenge due to growth and development. A male with hypohidrotic ectodermal dysplasia began dental intervention at the age of 3 years. The clinical and radiographic exams revealed the absence of several primary and permanent teeth and abnormal shape of the primary maxillary incisors. The facial characteristics were compatible with hypohidrotic ectodermal dysplasia, such as a prominent brow, everted lips, fattened bridge of the nose and small vertical facial height. The treatment proposed involved rehabilitation through successive temporary partial dentures, functional orthopedics of the jaws, esthetic reconstruction of the anterior teeth, timely occlusal intervention and preventive actions for the control of dental caries and plaque. The present case demonstrates that early care plays a fundamental role in minimizing the biopsychosocial consequences of hypohidrotic ectodermal dysplasia and preparing the patient for future oral rehabilitation. Although, the literature offers a number of papers describing dental treatment for ectodermal dysplasia, few cases include long-term follow-up and the use of a functional orthopedic appliance in combination with removable dentures in such patients.

  19. Assessment of hip dysplasia and osteoarthritis: Variability of different methods

    International Nuclear Information System (INIS)

    Troelsen, Anders; Elmengaard, Brian; Soeballe, Kjeld; Roemer, Lone; Kring, Soeren

    2010-01-01

    Background: Reliable assessment of hip dysplasia and osteoarthritis is crucial in young adults who may benefit from joint-preserving surgery. Purpose: To investigate the variability of different methods for diagnostic assessment of hip dysplasia and osteoarthritis. Material and Methods: By each of four observers, two assessments were done by vision and two by angle construction. For both methods, the intra- and interobserver variability of center-edge and acetabular index angle assessment were analyzed. The observers' ability to diagnose hip dysplasia and osteoarthritis were assessed. All measures were compared to those made on computed tomography scan. Results: Intra- and interobserver variability of angle assessment was less when angles were drawn compared with assessment by vision, and the observers' ability to diagnose hip dysplasia improved when angles were drawn. Assessment of osteoarthritis in general showed poor agreement with findings on computed tomography scan. Conclusion: We recommend that angles always should be drawn for assessment of hip dysplasia on pelvic radiographs. Given the inherent variability of diagnostic assessment of hip dysplasia, a computed tomography scan could be considered in patients with relevant hip symptoms and a center-edge angle between 20 deg and 30 deg. Osteoarthritis should be assessed by measuring the joint space width or by classifying the Toennis grade as either 0-1 or 2-3

  20. Assessment of hip dysplasia and osteoarthritis: Variability of different methods

    Energy Technology Data Exchange (ETDEWEB)

    Troelsen, Anders; Elmengaard, Brian; Soeballe, Kjeld (Orthopedic Research Unit, Univ. Hospital of Aarhus, Aarhus (Denmark)), e-mail: a_troelsen@hotmail.com; Roemer, Lone (Dept. of Radiology, Univ. Hospital of Aarhus, Aarhus (Denmark)); Kring, Soeren (Dept. of Orthopedic Surgery, Aabenraa Hospital, Aabenraa (Denmark))

    2010-03-15

    Background: Reliable assessment of hip dysplasia and osteoarthritis is crucial in young adults who may benefit from joint-preserving surgery. Purpose: To investigate the variability of different methods for diagnostic assessment of hip dysplasia and osteoarthritis. Material and Methods: By each of four observers, two assessments were done by vision and two by angle construction. For both methods, the intra- and interobserver variability of center-edge and acetabular index angle assessment were analyzed. The observers' ability to diagnose hip dysplasia and osteoarthritis were assessed. All measures were compared to those made on computed tomography scan. Results: Intra- and interobserver variability of angle assessment was less when angles were drawn compared with assessment by vision, and the observers' ability to diagnose hip dysplasia improved when angles were drawn. Assessment of osteoarthritis in general showed poor agreement with findings on computed tomography scan. Conclusion: We recommend that angles always should be drawn for assessment of hip dysplasia on pelvic radiographs. Given the inherent variability of diagnostic assessment of hip dysplasia, a computed tomography scan could be considered in patients with relevant hip symptoms and a center-edge angle between 20 deg and 30 deg. Osteoarthritis should be assessed by measuring the joint space width or by classifying the Toennis grade as either 0-1 or 2-3

  1. Papillary bile duct dysplasia in primary sclerosing cholangitis.

    Science.gov (United States)

    Ludwig, J; Wahlstrom, H E; Batts, K P; Wiesner, R H

    1992-06-01

    A 62-year-old man with a 20-year history of chronic ulcerative colitis and a 9-year history of primary sclerosing cholangitis (PSC) underwent orthotopic liver transplantation because of symptoms related to PSC and cholangiographic features compatible with a biliary neoplasm. Study of the excised liver revealed papillary mucosal lesions in the common hepatic duct and the right and left hepatic ducts as well as cholangiectases and other features typically associated with PSC. The papillary lesions consisted of abundant fibrovascular stroma covered by biliary epithelium with low-grade and high-grade dysplasia. Some periductal glands were also dysplastic. These features distinguished papillary dysplasia from classic biliary papillomatosis. Only one focus of microinvasion was found; there were no metastases. Among 60 cases of PSC in whom the entire liver could be studied after orthotopic liver transplantation, this was the only instance of unequivocal dysplasia. However, in one specimen, papillary hyperplasia was found. Detailed macroscopic and microscopic rereview of 23 livers from our patients with the longest history of PSC (range, 5-24 years) failed to reveal any additional cases with dysplasia. It is concluded that (a) papillary mucosal lesions in PSC may represent papillary dysplasia without invasion; (b) these lesions may evolve from papillary hyperplasia; (c) the process may be largely, if not entirely, in situ; and (d) the prevalence of dysplasia and carcinoma of bile ducts may be less than the 7%-9% reported in the literature for malignancies associated with PSC.

  2. Irreducible Vagueness

    DEFF Research Database (Denmark)

    Ekman, Ulrik

    2009-01-01

    This article argues that Blur Building, Diller & Scofidio's architectural project for the Swiss Expo 2002, demonstrated performatively and interactively how contemporary worldmaking involves cultural and technological invention and construction both, implying our cultural co-evolution with ubiqui......This article argues that Blur Building, Diller & Scofidio's architectural project for the Swiss Expo 2002, demonstrated performatively and interactively how contemporary worldmaking involves cultural and technological invention and construction both, implying our cultural co......-evolution with ubiquitous computing and media such that "worlding" must today be approached and approximated as a question of realities that mix virtuality and actuality. This article not only touches upon the actual inventions produced in this project--with its atmospheric architecture of tensegrity structures, its vast...

  3. Invasive treatment for carotid fibromuscular dysplasia

    Science.gov (United States)

    Maciejewski, Damian R.; Dzierwa, Karolina; Kabłak-Ziembicka, Anna; Michalski, Michał; Wójcik-Pędziwiatr, Magdalena; Brzychczy, Andrzej; Moczulski, Zbigniew; Żmudka, Krzysztof; Pieniążek, Piotr

    2015-01-01

    Introduction Fibromuscular dysplasia (FMD) is an infrequent non-inflamatory disease of unknown etiology that affects mainly medium-size arteries. The prevalence of FMD among patients scheduled for endovascular treatment of carotid artery stenosis is unknown. Aim To evaluate the prevalence and treatment options of carotid FMD in patients scheduled for carotid artery stenting (CAS). Material and methods Between Jan 2001 and Dec 2013, 2012 CAS procedures were performed in 1809 patients (66.1% men; age 65.3 ±8.4 years, 49.2% symptomatic). In case of FMD suspicion in Doppler-duplex ultrasound (DUS), computed tomography angiography was performed for aortic arch and extracranial and intracranial artery imaging. For invasive treatment of FMD carotid stenosis, balloon angioplasty was considered first. If the result of balloon angioplasty was not satisfactory (> 30% residual stenosis, dissection), stent placement was scheduled. All patients underwent follow-up DUS and neurological examination 3, 6 and 12 months after angioplasty, then annually. Results There were 7 (0.4%) (4 symptomatic) cases of FMD. The FMD group was younger (47.9 ±7.5 years vs. 67.2 ±8.9 years, p = 0.0001), with higher prevalence of women (71.4% vs. 32.7%, p = 0.0422), a higher rate of dissected lesions (57.1% vs. 4.6%, p = 0.0002) and less severe stenosis (73.4% vs. 83.9%, p = 0.0070) as compared to the non-FMD group. In the non-FMD group the prevalence of coronary artery disease was higher (65.1% vs. 14.3% in FMD group, p = 0.009). All FMD patients underwent successful carotid artery angioplasty with the use of neuroprotection devices. In 4 cases angioplasty was supported by stent implantation. Conclusions Fibromuscular dysplasia is rare among patients referred for CAS. In case of significant FMD carotid stenosis, it may be treated with balloon angioplasty (stent supported if necessary) with optimal immediate and long-term results. PMID:26161104

  4. Appropriate fluid regimens to prevent bronchopulmonary dysplasia.

    Science.gov (United States)

    Tammela, O K

    1995-01-01

    Pulmonary oedema is an important problem in premature neonates with surfactant deficiency because of fluid accumulation in the lung interstitium and reduced urine output. Some retrospective reports suggest that excessive early hydration might increase the risk of bronchopulmonary dysplasia (BPD). Only three prospective studies evaluating low or conventional fluid administration regimens to very low birth weight infants have been published. According to their results no significant differences in the incidence of BPD have been shown. However, fluid restriction seems to improve the outcome of the infants because of decreased incidence of haemodynamically significant patent ductus arteriosus, necrotizing enterocolitis, pulmonary air leaks and decreased mortality. The appropriate amount of sodium in the intravenous fluids during the first days of life needs further evaluation. In tiny infants with birth weights from 500 to 800g intensive monitoring of fluid balance is essential to control the extremely high fluid losses due to evaporation. Undernutrition is a risk factor of BPD and therefore it is important to start parenteral nutrition early. The benefit of the use of colloids as volume expanders is controversial. According to some retrospective reports there might be an association with increased use of colloidal fluids during the first days of life and the development of BPD. Early excessive fluid administration might constitute a potential risk for low birth weight infants with hyaline membrane disease.(ABSTRACT TRUNCATED AT 250 WORDS)

  5. Periapical cemento-osseous dysplasia: clinicopathological features.

    Science.gov (United States)

    Roghi, Marco; Scapparone, Chiara; Crippa, Rolando; Silvestrini-Biavati, Armando; Angiero, Francesca

    2014-05-01

    Periapical cemento-osseous dysplasia (PCOD) is a rare benign lesion, often asymptomatic, in which fibrous tissue replaces the normal bone tissue, with metaplasic bone and neo-formed cement. We present a rare case of mandibular PCOD in a woman of 55 years, who presented with moderate swelling and mobility of teeth 32-33-34. Endoral radiography showed that these teeth had been devitalized; they had deep periodontal pockets and marked radicular radiotransparency; the root apices exhibited mixed radiotransparency and radio-opacity. Clinical and radiographical findings led to a diagnosis of periapical rarefying osteitis, and the three teeth were thus extracted. Due to the persistence of swelling and slight pain post-extraction, a cone-beam computed tomographic scan was taken; this showed a mixed radiotransparent and radio-opaque lesion in the area of the extracted teeth. A bone biopsy of the affected area was taken for histopathological evaluation; a diagnosis of PCOD was rendered. This case demonstrates the importance of a full investigation when a patient presents after tooth extraction with non-healing socket, pain, and swelling. A multidisciplinary approach is required to manage these rare cases.

  6. [Mondini dysplasia: recurrent bacterial meningitis in adolescence].

    Science.gov (United States)

    Vargas-Dĭaz, J; Garófalo-Gómez, N; Rodríguez, U; Parra, M; Barroso-García, E; Novoa-López, L; Rojas-Massipe, E; Sardiñas-Hernández, N L

    Episodes of recurrent bacterial meningitis can occur in patients due to either congenital or acquired disorders. Congenital deformity of the bony labyrinth can be linked to a fistulous tract communicating it with the intracranial subarachnoid space. Mondini deformity is a frequent malformation in congenitally deaf patients. We report the case of an adolescent with a history of being unable to hear in one ear who, from the age of 10 years, began to suffer repeated bacterial meningoencephalitis with microbiological recovery of Streptococcus pneumoniae on three occasions. The type of germ recovered in the cerebrospinal fluid (CSF) and the history of congenital deafness that was detected when the patient was 3 years old were the diagnostic clues to the possible anomaly of the inner ear with a CSF fistula. The clinically proven CSF rhinorrhea contributed to the diagnosis of an ear anomaly with a fistula. Computerised axial tomography and magnetic resonance studies of the petrous portion of the temporal bone revealed the malformation that was later found and closed during the surgical intervention on the affected ear. The clinical absence of rhinorrhea, a year's progression without new infections after operating on the patient and post-surgery imaging studies were all proof that the fistula had closed. Mondini dysplasia with CSF fistula must be included as a possible diagnosis when faced with a patient with recurrent bacterial meningoencephalitis. Imaging studies, especially magnetic resonance, enable the clinician to check the diagnosis and the CSF fistula can be closed with ear surgery.

  7. Developmental dyscalculia.

    Science.gov (United States)

    Kucian, Karin; von Aster, Michael

    2015-01-01

    Numerical skills are essential in our everyday life, and impairments in the development of number processing and calculation have a negative impact on schooling and professional careers. Approximately 3 to 6 % of children are affected from specific disorders of numerical understanding (developmental dyscalculia (DD)). Impaired development of number processing skills in these children is characterized by problems in various aspects of numeracy as well as alterations of brain activation and brain structure. Moreover, DD is assumed to be a very heterogeneous disorder putting special challenges to define homogeneous diagnostic criteria. Finally, interdisciplinary perspectives from psychology, neuroscience and education can contribute to the design for interventions, and although results are still sparse, they are promising and have shown positive effects on behaviour as well as brain function. In the current review, we are going to give an overview about typical and atypical development of numerical abilities at the behavioural and neuronal level. Furthermore, current status and obstacles in the definition and diagnostics of DD are discussed, and finally, relevant points that should be considered to make an intervention as successful as possible are summarized.

  8. Retinal tear presenting in a patient with ectrodactyly ectodermal dysplasia.

    Science.gov (United States)

    Grogg, Jane Ann; Port, Nicholas; Graham, Trevor

    2014-04-01

    This article aims to report a case of known ectrodactyly ectodermal dysplasia in a young male patient who subsequently was found to have a retinal tear and localized retinal detachment. This is a case report of a 22-year-old white male patient with a history of ectrodactyly ectodermal dysplasia. Our patient initially presented with an acute exacerbation of bilateral, red, irritated eyes. No recent changes in vision were reported. The patient's ocular surface disease was consistent with ectrodermal dysplasia syndrome. However, a dilated fundus examination revealed an asymptomatic retinal tear with a surrounding localized retinal detachment. In this case, the patient presented with longstanding ocular surface disease known to be associated with this patient's inherited ectoderm disorder. In addition, this patient revealed a retinal tear, raising the possibility that patients with inherited congenital ectodermal dysplasia could be at risk for damaged structures originating from the neural ectoderm. In this heterogeneous disease, we are contributing to the existing literature a case of ectodermal dysplasia syndrome with obvious ectodermal complications that also had retinal findings leading us to speculate question if neural ectoderm could also be involved in this inherited disease.

  9. Recurring fibrous dysplasia of anthro maxillary with cranial base invasion

    Directory of Open Access Journals (Sweden)

    Sousa, Kátia Maria Marabuco de

    2009-09-01

    Full Text Available Introduction: Fibrous dysplasia is an osseous lesion with an unknown etiology. It is characterized by the osseous maturation insufficiency. It may affect any bone, but the affection of craniofacial bones is the most critical for otorhinolaryngology. Maxilla is the most affected facial bone and the orbitary invasion is an uncommon event. The symptoms are unspecific and for its low suspicion and uncommonness, the diagnosis is generally late. The monostotic form presents a slow growth and asymptomatic course and needs to be followed up. The polyostotic type has a progressive behavior and is associated to recurrence and complications. Objective: To present two cases of patients with fibrous dysplasia diagnosis and describe the clinical presentation, radiological findings and the treatment of this pathology. Cases Report: Two cases of fibrous dysplasia are reported, which initially presented unspecific symptomatology, but with characteristic radiologic signs. They were submitted to surgical treatment for resection of the lesions and evolved with frequent recurrences with extensive affection of the facial sinuses, one patient had cranial base invasion and frontal craniotomy was needed for tumoral excision. Final Comments: Fibrous dysplasia is an uncommon osteopathy. The tomography is the choice method for characterization of the tumoral expansion, and helps in the surgical planning. The surgical strategy is indicated for symptomatic lesions, functions alterations or anatomic disorders. This article describes two uncommon manifestations of recurrent fibrous dysplasia with an extensive affection of anthro maxillary, ethmoidal and sphenoid sinuses, in addition to orbitary and cranial base invasion.

  10. Immunohistochemical Expression of MCM-2 in Oral Epithelial Dysplasias.

    Science.gov (United States)

    Zakaria, Samar H; Farag, Heba A; Khater, Dina S

    2016-03-17

    Oral cancer is one of the most frequent cancers in the world. It arises from epithelial dysplasia. Hence, identifying these lesions in an early stage could prevent their malignant transformation. The aim of the present work was to assess the cell proliferative activity of minichromosome maintenance protein (MCM-2) in oral epithelial dysplastic lesions and to correlate the results with different grades of epithelial dysplasia in an attempt to use MCM-2 in the early detection of malignancy. MCM-2 expression was determined by the nuclear count in a total of 30 oral epithelial dysplastic specimens roughly classified into 10 cases of mild, moderate, and severe dysplasia. Five cases of early invasive squamous-cell carcinomas and 5 cases of epithelial hyperplasia were also included. The MCM-2 immunostaining was found to increase gradually from mild to moderate to severe dysplasia and reached its maximum value in early invasive squamous cell carcinoma. MCM-2 is of prognostic value in cases of oral dysplasia that have a tendency to undergo malignant transformation.

  11. Concurrent follicular dysplasia and interface dermatitis in Boxer dogs.

    Science.gov (United States)

    Rachid, Milene A; Demaula, Christopher D; Scott, Danny W; Miller, William H; Senter, David A; Myers, Sherry

    2003-06-01

    Recurrent or persistent follicular dysplasia and interface dermatitis are described in nine Boxers. Data on age, sex, seasonality of alopecia and histopathological features of the follicular dysplasia in these nine Boxers are comparable with those described in previous reports. The interface dermatitis was characterized by multifocal annular crusted lesions confined to the areas of follicular dysplasia. The inflammatory lesions were neither pruritic nor painful and affected dogs were otherwise healthy. Histopathologically the clinically inflammatory lesions were characterized as an interface dermatitis. Immunohistochemical studies failed to demonstrate immunoglobulins or complement at the basement membrane zone or within blood vessel walls. In dogs with recurrent or persistent disease, the follicular dysplasia and interface dermatitis ran identical, concurrent courses of spontaneous remission and recurrence, or persistence, respectively. One dog with persistent disease was treated successfully with tetracycline and niacinamide for the interface dermatitis, and melatonin for the follicular dysplasia. Although the aetiopathogenesis of this newly described condition and the relationship between the two histological reaction patterns are not known, photoperiod and genetic predisposition appear to play a role.

  12. Familial florid Cemento-osseous dysplasia - case report and review of literature.

    Science.gov (United States)

    Thorawat, Amit; Kalkur, Chaitra; Naikmasur, Venkatesh G; Tarakji, Bassel

    2015-12-01

    Familial Florid cemento-osseous dysplasia is a very uncommon condition. Cemento-osseous dysplasia is totally asymptomatic in many cases, in those conditions, lesions are detected in a radiograph taken for other purposes. In this report, we describe a family in which mother and daughter exhibited clinical, radiographic, and histologic features of florid cemento-osseous dysplasia.

  13. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population

    OpenAIRE

    Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and l...

  14. Inclination and anteversion of Collum femoris in hip dysplasia and coxarthritis

    Energy Technology Data Exchange (ETDEWEB)

    Madsen, J. S.; Svalastoga, E. [Kongelige Veterinaer- og Landbohoejskole, Copenhagen (Denmark)

    1994-07-01

    Femoral neck angles were measured radiographically in 41 dogs examined for hip dysplasia. Steep femoral neck inclination was found to be a phenomenon of hip dysplasia and coxofemoral joint laxity. The altered biomechanics of a steep femoral neck inclination may be a factor in the pathogenesis of hip dysplasia and secondary osteoarthritis.

  15. Influence of hip dysplasia on the development of osteoarthritis of the hip

    NARCIS (Netherlands)

    A.M. Lievense (Annet); S.M. Bierma-Zeinstra (Sita); A.P. Verhagen (Arianne); J.A.N. Verhaar (Jan); B.W. Koes (Bart)

    2004-01-01

    textabstractBackground: It has been suggested that in some patients with primary hip osteoarthritis (OA), the disease occurs as a consequence of acetabular dysplasia or hip dysplasia (HD). Objective: To carry out a systematic review to investigate the association between acetabular dysplasia and hip

  16. Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

    International Nuclear Information System (INIS)

    Grattan-Smith, J.D.; Little, Stephen B.; Jones, Richard A.

    2008-01-01

    MR urography has the potential to significantly improve our understanding of the relationship between reflux nephropathy, pyelonephritis, vesicoureteric reflux and renal dysplasia. MR urography utilizes multiple parameters to assess both renal anatomy and function and provides a more complete characterization of acquired and congenital disease. Pyelonephritis and renal scarring can be distinguished by assessing the parenchymal contours and signal intensity. Characteristic imaging features of renal dysplasia include small size, subcortical cysts, disorganized architecture, decreased and patchy contrast enhancement as well as a dysmorphic pelvicalyceal system. Because of its ability to subdivide and categorize this heterogeneous group of disorders, it seems inevitable that MR urography will replace DMSA renal scintigraphy as the gold standard for assessment of pyelonephritis and renal scarring. MR urography will contribute to our understanding of renal dysplasia and its relationship to reflux nephropathy. (orig.)

  17. A case report of arrhythmogenic right ventricular dysplasia

    Directory of Open Access Journals (Sweden)

    Henry Anselmo Mayala

    2013-07-01

    Full Text Available Background Arrhythmogenic right ventricular dysplasia is an autosomal dominant disorder affecting parts of myocardium known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The hallmark feature is fibro-fatty replacement of the right ventricle myocardium characterized by hypokinetic areas with associated arrhythmias originating in the right ventricle. Case Presentation In this report a 42 year old man was admitted at Wuhan union Hospital with the presenting complaints of visual hallucination and difficulty in breathing on exertion, with a family history of sudden death. Clinical and imaging findings are suggestive of Arrhythmogenic right ventricular dysplasia. Conclusion Despite being among the rare cardiac disease, Arrhythmogenic right ventricular dysplasia is an important cause of ventricular arrhythmias in children and young adults, it is also responsible for sudden cardiac death in the young population, making it necessary for this case report.

  18. A case report of arrhythmogenic right ventricular dysplasia

    Directory of Open Access Journals (Sweden)

    Henry Anselmo Mayala

    2013-01-01

    Full Text Available Background Arrhythmogenic right ventricular dysplasia is an autosomal dominant disorder affecting parts of myocardium known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The hallmark feature is fibro-fatty replacement of the right ventricle myocardium characterized by hypokinetic areas with associated arrhythmias originating in the right ventricle. CasePresentation Inthisreporta42yearoldmanwasadmittedatWuhanunion Hospital with the presenting complaints of visual hallucination and difficulty in breathing on exertion, with a family history of sudden death. Clinical and imaging findings are suggestive of Arrhythmogenic right ventricular dysplasia. Conclusion Despitebeingamongtherarecardiacdisease,Arrhythmogenicright ventricular dysplasia is an important cause of ventricular arrhythmias in children and young adults, it is also responsible for sudden cardiac death in the young population, making it necessary for this case report.

  19. Hereditary ectodermal dysplasia: Report of 11 patients from a family

    Directory of Open Access Journals (Sweden)

    Seema Vaidya

    2013-01-01

    Full Text Available Hereditary Ectodermal Dysplasia is an inherited disorder commonly involving skin, teeth, hair, and nails. We have observed ectodermal dysplasia (EDs in 11 individuals over two generations in one family. Smooth, dry, thin skin was seen in most affected individuals. All had fine, slow-growing scalp hair and body hair and some had sparse eyebrows and short eyelashes. Nearly all showed decrease in sweating. Severe teeth abnormalities were seen in all patients and fingernail abnormalities were not so severe but toenail abnormalities were seen in all patients. No other abnormalities were seen in affected individuals in this family. It is very rare to find such a large family having ectodermal dysplasia.

  20. REHABILITASI PASIEN GIGI TIRUAN PENUH DENGAN EKTODERMAL DYSPLASIA (LAPORAN KASUS

    Directory of Open Access Journals (Sweden)

    Susi R. Puspita Dewi

    2015-07-01

    Full Text Available Ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. This disease is usually transmitted as an x-linked recessive trait in which the gene is carried by female and manifested in male. The orofacial characteristics of ectodermal dysplasia include anodontia or hypodontia, congenital teeth, underdevelopment of alveolar ridges and it is not uncommon for the face of an affected child to take on the appearance characteristic of old age, a prominent forehead, protuberant lips, a depressed nasal bridge, hypotricosis, and hypohidrosis. The treatment to manage orogacial disfigurement may afford the patient some measure of confidence, esthetics, function and speech. This case report describes the diagnosis and treatment of ectodermal dysplasia in an 18 year patient. The treatment included removable complete denture.

  1. Death due to complications of anhidrotic ectodermal dysplasia.

    Science.gov (United States)

    Ogden, Emily; Schandl, Cynthia; Tormos, Lee Marie

    2014-11-01

    Ectodermal dysplasia comprises a group of disorders affecting ectodermal tissues. Severity depends on the genetic aberration; hyperpyrexia secondary to absence of sweat glands is a common complication. Treatment is supportive. This case report describes a 1-month, 27-day-old male infant with a diagnosis of X-linked recessive anhidrotic ectodermal dysplasia. On the day of his death, his mother swaddled him in a blanket and placed him on the couch at 5:30 am. When she picked him up at 8:00 am, he was unresponsive. At the emergency department, his rectal temperature was 40°C. Postmortem blood culture was positive for group B streptococcus, a possible etiology for fever. It is vital to teach parents that close monitoring of children with ectodermal dysplasia is necessary, as an increase in body temperature can become life threatening. © 2014 American Academy of Forensic Sciences.

  2. Infantile bilateral glaucoma in a child with ectodermal dysplasia.

    Science.gov (United States)

    Callea, Michele; Vinciguerra, Agatino; Willoughby, Colin E; Deroma, Laura; Clarich, Gabriella

    2013-01-01

    Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.

  3. FOXI2: a possible gene contributing to ectodermal dysplasia.

    Science.gov (United States)

    Kurban, Mazen; Zeineddine, Savo Bou; Hamie, Lamiaa; Safi, Remi; Abbas, Ossama; Kibbi, Abdul Ghani; Bitar, Fadi; Nemer, Georges

    2017-12-01

    Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. DNA was examined by exome sequencing and protein expression by immunohistochemistry. Exome sequencing identified a mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene which was neither present in the international databases, nor in 400 chromosomes from the same population. Based on immunohistochemical staining, FOXI2 was identified in the basal cell layer of the skin and overlapped with the expression of P63, a major player in ectodermal dysplasia. We therefore suggest screening for FOXI2 mutation in the setting of ectodermal features that are not associated with genes known to contribute to ectodermal dysplasia.

  4. Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome.

    Science.gov (United States)

    Hou, Yikang; Jin, Yunbo; Lin, Xiaoxi; Chai, Gang; Zhang, Yan; Qi, Zuoliang

    2017-06-01

    Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. In this study, plastic rehabilitation was developed to correct the special features of patients with ectodermal dysplasia. Four men and 1 woman with ectodermal dysplasia syndrome were treated. Four patients showed dysostosis of the midface, and rhinoplasty with costal bone was performed, whereas cosmetic operation aiming to repair soft tissue defects was adopted for the last patient. After plastic corrections, all 5 patients were satisfied with the results and had no social embarrassment.

  5. Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Grattan-Smith, J.D. [Emory University School of Medicine, Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Little, Stephen B. [Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Jones, Richard A. [Emory University School of Medicine, Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States)

    2008-01-15

    MR urography has the potential to significantly improve our understanding of the relationship between reflux nephropathy, pyelonephritis, vesicoureteric reflux and renal dysplasia. MR urography utilizes multiple parameters to assess both renal anatomy and function and provides a more complete characterization of acquired and congenital disease. Pyelonephritis and renal scarring can be distinguished by assessing the parenchymal contours and signal intensity. Characteristic imaging features of renal dysplasia include small size, subcortical cysts, disorganized architecture, decreased and patchy contrast enhancement as well as a dysmorphic pelvicalyceal system. Because of its ability to subdivide and categorize this heterogeneous group of disorders, it seems inevitable that MR urography will replace DMSA renal scintigraphy as the gold standard for assessment of pyelonephritis and renal scarring. MR urography will contribute to our understanding of renal dysplasia and its relationship to reflux nephropathy. (orig.)

  6. Radiological analysis of polyostotic fibrous dysplasia in skeletal system

    International Nuclear Information System (INIS)

    Shin, Ma Rie; Kim, Jin Sik; Kim, Han Suk; Park, Soo Soung

    1984-01-01

    Over a period of recent 3 years, the 5 cases of polyostotic fibrous dysplasia were proven histologically at National Medical Center, and they were evaluated and analyzed radiologically and clinically. The results were as follows: 1. The age of 5 patients ranged from 12 to 21. 2. In general, clinical symptoms of these patients were pain of affected sites and swelling , fracture, walking disturbance of lower extremities. 3. The order of frequent site of polyostotic fibrous dysplasia was skull (4 cases), femur (3 cases), maxilla (2 case), humerus, tibia, rib, radius, metacarpal bone and phalanx. 4. The characteristic radiological findings of polyostotic fibrous dysplasia were multicystic lesions with ground glass appearance, osteosclerosis, cortical thinning and pathologic fracture and deformity of long bones. Particularly, in the extremities, multicystic radiolucencies, groud glass appearance, shepherd's crook and coxa vara deformities were noticed, and in the skull and maxilla, sclerotic changes were principally demonstrated.

  7. Pelvic orientation and assessment of hip dysplasia in adults

    DEFF Research Database (Denmark)

    Jacobsen, S.; Holm, S.S.; Lund, B.

    2004-01-01

    on the measurements of radiographic indices of hip dysplasia. MATERIAL AND METHODS: We investigated the effect of varying pelvic orientation on radiographic measurements of acetabular dysplasia using a cadaver model. Results from the cadaver study were used to validate the radiographic assessments of acetabular...... radiograph was recorded at each 3 degrees increment. The most widely used radiographic parameters of hip dysplasia were assessed. 2) Critical limits of acceptable rotation and inclination/reclination of pelvises were determined on 4151 standing, standardised pelvic radiographs of the CCHS cohort. RESULTS......BACKGROUND: The study was performed to qualify the source material of 4151 pelvic radiographs for the research into the relationship between unrecognised childhood hip disorders and the development of hip osteoarthrosis, and to investigate the effect of varying degrees of pelvic tilt and rotation...

  8. Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia

    International Nuclear Information System (INIS)

    Hisaoka, Masanori; Hashimoto, Hiroshi; Ohguri, Takayuki; Aoki, Takatoshi; Okamoto, Sumika; Ishida, Tsuyoshi; Tanaka, Hidetoshi; Okimoto, Nobukazu; Nakamura, Toshitaka

    2004-01-01

    We describe a recently noted association of congenital (infantile) pseudarthrosis of the lower leg with osteofibrous dysplasia. The patient was a 2-year-old boy who presented with a deformed left ankle joint and three cutaneous cafe-au-lait spots. Radiography demonstrated pseudarthrosis of the left distal fibula and a round lucent lesion adjacent to the proximal part of the pseudarthrosis. Histologically, the surgically removed fibula with pseudarthrosis showed a fibromatosis-like fibrovascular proliferation and nonspecific reparative changes. The focal lucent area demonstrated a fibro-osseous lesion, which was histologically identical to osteofibrous dysplasia. This case provides further evidence that osteofibrous dysplasia may be associated with congenital (infantile) pseudarthrosis of the lower leg. (orig.)

  9. Osseous Dysplasia Accompanied by a Complex Odontoma in the Mandible

    Directory of Open Access Journals (Sweden)

    N Jafari

    2017-05-01

    Full Text Available Introduction: Cement osseous dysplasia is the most common lesion of the family fibrous dysplasia which normal bone is replaced with fibrous tissue and several mineralized material. These lesions may be seen in association with various lesions. Companionship of this lesion with odontoma has been reported rarely. Case report: A 44-year-old female in one year ago has admitted to Shahid Sadoughi Faculty of Dentistry Yazd for treatment of mandibular left third molar. In panoramic radiography in the mandibular left first molar region, a mixed lesion of radiolucent-radiopaque with a corticated borderwas seen. Small swelling was observed in this area. Microscopically, the diagnosis of osseous dysplasia with odontoma for the lesion was confirmed. Conclusion: The reason of companionship of cement osseous lesions whit other lesions is not completely clear and it requires further evaluation.

  10. Hereditary ectodermal dysplasia: A retrospective study

    Science.gov (United States)

    More, Chandramani B.; Bhavsar, Khusbhu; Joshi, Jigar; Varma, Saurabh N.; Tailor, Mansi

    2013-01-01

    Background: Ectodermal dysplasia (ED) is a group of rare, inherited disorders characterized by sparse hair, missing teeth and inability to sweat. Objective: To review and analyze cases of ED with an emphasis on clinical manifestations and parent's marriage history. Methodology: The present retrospective study was conducted by assessing the clinical records of nineteen cases of ED, available in the archives of the department; for age, gender, family history of consanguineous marriage and clinical manifestations. Results: It was observed that ED was more prevalent in males, with a ratio of 1.7:1. The hypohydrotic type was more common (78.95%) than hydrotic type (21.05%). The marriage history of parents revealed that 66.67% had consanguineous marriage and had 68.42% offspring's affected with ED; whereas 33.33% had history of non-consanguineous marriage and had 31.58% offspring's affected with ED. The clinical manifestations observed were- dry skin(94.74%); scaly skin(42.11%); sparse hair on scalp, eyebrows and eyelashes(100%); frontal bossing(63.18%); saddle nose (57.89%); hypertelorism (47.37%); nail abnormality(52.63%); normal sweat glands(21.05%); abnormal sweat glands(78.95%); hypoplastic maxilla(52.63%); protuberant lips (57.89%); palmo-plantar keratosis(21.05%); wrinkled & hyper pigmented facial skin(84.21%); partial anodontia(94.74%); conical shaped teeth(84.21%); high arched palate(68.42%); thin alveolar bone(100.00%); taurodontism(21.05%) and cleft lip & cleft palate(05.26%). The number of teeth present in all the cases ranged from 0 to 19. Conclusion: ED patients suffer from social problems and poor psychological and physiological development as a result of unacceptable esthetics and abnormal function of orofacial structures. Oral rehabilitation thus becomes mandatory, although it is often difficult; particularly in pediatric patients. PMID:24082749

  11. Arrhythmogenic right ventricular dysplasia: Atypical clinical presentation.

    Science.gov (United States)

    Marçalo, José; Menezes Falcão, Luiz

    2017-03-01

    A 67-year-old man was admitted to our hospital after episodes of syncope preceded by malaise and diffuse neck and chest discomfort. No family history of cardiac disease was reported. Laboratory workup was within normal limits, including D-dimers, serum troponin I and arterial blood gases. The electrocardiogram showed sinus rhythm with T-wave inversion in leads V1 to V3. Computed tomography angiography to investigate pulmonary embolism showed no abnormal findings. Transthoracic echocardiography (TTE) displayed massive enlargement of the right ventricle with intact interatrial septum and no pulmonary hypertension. Cardiac magnetic resonance imaging (MRI) confirmed right ventricular (RV) dilatation and revealed marked hypokinesia/akinesia of the lateral wall. Exercise stress testing was negative for ischemia. According to the 2010 Task Force criteria for arrhythmogenic right ventricular dysplasia (ARVD), this patient presented two major criteria (global or regional dysfunction and structural alterations: by MRI, regional RV akinesia or dyskinesia or dyssynchronous RV contraction and RV ejection fraction ≤40%, and repolarization abnormalities: inverted T waves in right precordial leads [V1, V2, and V3]); and one minor criterion (>500 ventricular extrasystoles per 24 hours by Holter), and so a diagnosis of ARVD was made. After electrophysiologic study (EPS) the patient received an implantable cardioverter-defibrillator (ICD). This late clinical presentation of ARVD highlights the importance of TTE screening, possibly complemented by MRI. The associated risk of sudden death was assessed by EPS leading to the implantation of an ICD. Genetic association studies should be offered to the offspring of all ARVD patients. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  12. Hereditary ectodermal dysplasia: A retrospective study.

    Science.gov (United States)

    More, Chandramani B; Bhavsar, Khusbhu; Joshi, Jigar; Varma, Saurabh N; Tailor, Mansi

    2013-07-01

    Ectodermal dysplasia (ED) is a group of rare, inherited disorders characterized by sparse hair, missing teeth and inability to sweat. To review and analyze cases of ED with an emphasis on clinical manifestations and parent's marriage history. The present retrospective study was conducted by assessing the clinical records of nineteen cases of ED, available in the archives of the department; for age, gender, family history of consanguineous marriage and clinical manifestations. It was observed that ED was more prevalent in males, with a ratio of 1.7:1. The hypohydrotic type was more common (78.95%) than hydrotic type (21.05%). The marriage history of parents revealed that 66.67% had consanguineous marriage and had 68.42% offspring's affected with ED; whereas 33.33% had history of non-consanguineous marriage and had 31.58% offspring's affected with ED. The clinical manifestations observed were- dry skin(94.74%); scaly skin(42.11%); sparse hair on scalp, eyebrows and eyelashes(100%); frontal bossing(63.18%); saddle nose (57.89%); hypertelorism (47.37%); nail abnormality(52.63%); normal sweat glands(21.05%); abnormal sweat glands(78.95%); hypoplastic maxilla(52.63%); protuberant lips (57.89%); palmo-plantar keratosis(21.05%); wrinkled & hyper pigmented facial skin(84.21%); partial anodontia(94.74%); conical shaped teeth(84.21%); high arched palate(68.42%); thin alveolar bone(100.00%); taurodontism(21.05%) and cleft lip & cleft palate(05.26%). The number of teeth present in all the cases ranged from 0 to 19. ED patients suffer from social problems and poor psychological and physiological development as a result of unacceptable esthetics and abnormal function of orofacial structures. Oral rehabilitation thus becomes mandatory, although it is often difficult; particularly in pediatric patients.

  13. Ectodermal Dysplasia with Anodontia: A Report of Two Cases

    Science.gov (United States)

    Bani, Mehmet; Tezkirecioglu, Ali Melih; Akal, Nese; Tuzuner, Tamer

    2010-01-01

    Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition. Two case reports illustrating the prosthetic rehabilitation of 2 young boys with anhidrotic ectodermal dysplasia associated with severe anodontia are presented. Since the oral rehabilitation of these cases is often difficult; particularly in pediatric patients, treatment should be administered by a multidisciplinary team involving pediatric dentistry, orthodontics, prosthodontics and oral-maxillofacial surgery. PMID:20396456

  14. Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity

    Directory of Open Access Journals (Sweden)

    Sangita Ghosh

    2014-01-01

    Full Text Available We describe a case of anhidrotic ectodermal dysplasia (AED with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED, which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic.

  15. Ectodermal Dysplasia: A Clinical Overview for the Dental Practitioner.

    Science.gov (United States)

    Halai, Tina; Stevens, Claire

    2015-10-01

    The term ectodermal dysplasia (ED) is used to describe a group of rare congenital disorders characterized by abnormalities of two or more ectodermal structures such as the skin, hair, nails, teeth and sweat glands. This paper will give an overview of the aetiology of ED and describe the manifestations and dental management of this condition. In particular, the important role of the dental practitioner in the identification and management of patients with ED will be highlighted. CPD/Clinical Relevance: Dental practitioners should be aware of the oral features of ectodermal dysplasia and be able to make timely referrals and provide appropriate continuing care for these patients.

  16. Radiographic signs of acetabular dysplasia of the adult hip

    Energy Technology Data Exchange (ETDEWEB)

    Lingg, G.; von Torklus, D.

    1981-06-01

    Many papers have been published about the different types of measurements used in the evaluation of hip dysplasia in the pediatric age group. However, there are no publications that deal with this topic regarding adults. The authors present an initial series of measurements of the angle of the roof of the acetabulum in 100 randomized asymptomatic adult males. The normal value ranged from -10/sup 0/ to +10/sup 0/. These measurements were correlated with those described by Wiberg. The combination of both methods yields highly reliable information in the evaluation of hip dysplasia.

  17. Angiographic diagnosis of fibromuscular dysplasia of the renal arteries

    Energy Technology Data Exchange (ETDEWEB)

    Petkov, B.; Grigorov, G.; Nedelkov, G. (Meditsinska Akademiya, Sofia (Bulgaria). Nauchen Inst. po Rentgenologiya i Radiobiologiya)

    1982-01-01

    In the nosological structure of renovascular hypertensions fibromuscular dysplasia of the renal arteries by incidence ranks second after atherosclerosis. The illness affects mainly women, more frequently young and having borne a child. Hypertension in such patients is usually characterized by high values of the diastolic pressure, and leads to early neurologic complaints such as headache, sight impairment, vertigo and Meniere-like syndromes. Morphological and functional changes are likewise described. Some of the literature statements concerning the etiopathogenesis and classification of fibromuscular dysplasia are critically assayed. The success of the surgical management depends on the timely established exact diagnosis, and angiography appears to be the only method of primary importance in this respect.

  18. Case report 486: Spondyloepiphyseal dysplasia tarda (SDT) (presumptively proved)

    International Nuclear Information System (INIS)

    Brown, D.D.; Childress, M.H.

    1988-01-01

    A 51 year old man with severe degenerative joint disease, short stature, barrel chest deformity, platyspondyly, a narrow pelvis, small iliac bones, dysplastic femoral heads and necks, notching of the patellae and flattening of the femoral intercondylar notches has been described as an example of Spondyloepiphyseal dysplasia tarda SDT. The entity was discussed in detail. The notching of the patellae has not been reported in association with SDT to the authors' knowledge. Characteristic features of SDT allow it to be differentiated from other arthropathies and dysplasias and these distinctions have been emphasized in the discussion. The diagnosis in this case can only be considered presumptively proved. (orig./MG)

  19. Localised form of spondylo-epiphyseal dysplasia congenita

    International Nuclear Information System (INIS)

    Hoeffel, J.C.; Mohy, R.; Collignon, P.; Moog, G.

    1988-01-01

    We report an unusual case of spondylo-epiphyseal dysplasia congenita which affected only the hips and the thoraco-lumbar spine. The epiphysis of the long bones are normal apart from the hips. Our child has a bilateral epiphyseal dysplasia of both proximal femoral epiphysis discovered incidentally at 11 months and confirmed later on at 8 years, associated with abnormalities of the superior margin of the vertebral bodies from T11 to L2. Very few similar cases have been reported anteriorly. (orig.) [de

  20. CT features of fibrous dysplasia of the temporal bone

    International Nuclear Information System (INIS)

    Charrada-Ben Farhat, L.; Bourkhis, S.; Ben Yaacoub, I.; Dali, N.; Askri, A.; Hendaoui, L.

    2006-01-01

    Fibrous dysplasia is characterized by a progressive replacement of normal bone elements by fibrous tissue. The temporal bone is rarely involved. In this location, complications such as facial deformity, conductive hearing loss and facial peripheral neural involvement can occur. Positive diagnosis can be established with computerized tomography which also enables assessment of extension and detection of complications. We report a case of a 27-year-old man with extensive fibrous dysplasia of the right temporal bone presenting with conductive hearing loss secondary to progressive stenosis of the external auditory canal. Computerized tomography of the temporal region was performed. (authors)

  1. Determination of Irreducible Water Saturation from nuclear magnetic resonance based on fractal theory — a case study of sandstone with complex pore structure

    Science.gov (United States)

    Peng, L.; Pan, H.; Ma, H.; Zhao, P.; Qin, R.; Deng, C.

    2017-12-01

    The irreducible water saturation (Swir) is a vital parameter for permeability prediction and original oil and gas estimation. However, the complex pore structure of the rocks makes the parameter difficult to be calculated from both laboratory and conventional well logging methods. In this study, an effective statistical method to predict Swir is derived directly from nuclear magnetic resonance (NMR) data based on fractal theory. The spectrum of transversal relaxation time (T2) is normally considered as an indicator of pore size distribution, and the micro- and meso-pore's fractal dimension in two specific range of T2 spectrum distribution are calculated. Based on the analysis of the fractal characteristics of 22 core samples, which were drilled from four boreholes of tight lithologic oil reservoirs of Ordos Basin in China, the positive correlation between Swir and porosity is derived. Afterwards a predicting model for Swir based on linear regressions of fractal dimensions is proposed. It reveals that the Swir is controlled by the pore size and the roughness of the pore. The reliability of this model is tested and an ideal consistency between predicted results and experimental data is found. This model is a reliable supplementary to predict the irreducible water saturation in the case that T2 cutoff value cannot be accurately determined.

  2. Role of arthrography in the management of dysplasia epiphysealis hemimelica

    Energy Technology Data Exchange (ETDEWEB)

    Ho, A.M.W.; Blane, C.E.; Kling, T.F. Jr.

    1986-03-01

    Dysplasia epiphysealis hemimelica can be diagnosed on plain radiographs of the affected areas. However, double contrast arthrography in three new cases provided additional information. The cartilaginous portions of the lesion at the articular surface of the bone were precisely demonstrated, aiding the orthopedic surgeon in deciding which patients should have surgery and planning the extent of operation necessary.

  3. Use of Zoledronic Acid in Paediatric Craniofacial Fibrous Dysplasia

    Directory of Open Access Journals (Sweden)

    Chiara Di Pede

    2016-01-01

    Full Text Available We describe a case of a paediatric patient affected by mandibular fibrous dysplasia (FD with severe and chronic pain who was successfully treated with zoledronic acid (ZOL: a third-generation bisphosphonate. Further research is needed to assess its safety and efficacy as a treatment option for FD in the paediatric population.

  4. Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

    Science.gov (United States)

    Izumi, Kosuke; Lippa, Andrew M; Wilkens, Alisha; Feret, Holly A; McDonald-McGinn, Donna M; Zackai, Elaine H

    2013-12-01

    Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including craniofacial, ocular, dental, and limb anomalies. Although recent findings implicate the major role of GJA1 during cardiac organogenesis, congenital heart defects are infrequently reported in oculodentodigital dysplasia. Here we report on two patients with GJA1 mutations presenting with cardiac malformations and type III syndactyly. Patient 1 presented with pulmonary atresia, an intact septum, right ventricular hypoplasia and tricuspid stenosis. The infant had a small nose, thin columella and bilateral 4-5 syndactyly of the fingers. A de novo c.226C>T (p.Arg76Cys) mutation was identified. Patient 2 presented at 6 months with a ventricular septal defect. The child had hypoplastic alae nasi with a thin columella and bilateral 4-5 syndactyly of the digits. A de novo missense mutation, c.145C>G (p.Gln49Glu) was found. Our two patients underscore the importance of cardiac evaluations as part of the initial workup for patients with findings of oculodentodigital dysplasia. Conversely, those patients with type III syndactyly and congenital heart defect should be screened for GJA1 mutations. © 2013 Wiley Periodicals, Inc.

  5. Multidisciplinary management of hypohydrotic ectodermal dysplasia – a case report

    Science.gov (United States)

    Joseph, Suja; Cherackal, George J; Jacob, Jose; Varghese, Alex K

    2015-01-01

    Key Clinical Message Hypohydrotic ectodermal dysplasia is a hereditary disorder, which affects ectodermal derivatives. It manifests several abnormalities of the teeth, and is commonly inherited through female carriers. This case report presents a patient with compromised esthetics and function. A multidisciplinary approach was planned involving an oral pathologist, endodontist, orthodontist and a prosthodontist. PMID:25984305

  6. Total hip reconstruction in acetabular dysplasia : a finite element study

    NARCIS (Netherlands)

    Schüller, H.M.; Dalstra, M.; Huiskes, H.W.J.; Marti, R.K.

    1993-01-01

    In acetabular dysplasia, fixation of the acetabular component of a cemented total hip prosthesis may be insecure and superolateral bone grafts are often used to augment the acetabular roof. We used finite element analysis to study the mechanical importance of the lateral acetabular roof and found

  7. Dentin dysplasia type I : Five cases within one family

    NARCIS (Netherlands)

    Kalk, WWI; Batenburg, RHK; Vissink, A

    Five cases of dentin dysplasia type I within one family are described. Clinically and radiologically, such patients are characterized by a delayed eruption pattern, opacity of the incisional margins, hypermobility of the teeth, short and defective roots, and obliterated pulp chambers. A conservative

  8. Tricuspid valve dysplasia: A retrospective study of clinical features ...

    African Journals Online (AJOL)

    Dogs were most frequently referred for investigation of heart murmur. The most common arrhythmia was atrial fibrillation (n=3). Median survival time from diagnosis of tricuspid valve dysplasia was 2775 days (range 1-3696 days; 95% CI 1542.41-4007.59) and from onset of right-sided congestive heart failure was 181 days ...

  9. Autosomal dominant frontometaphyseal dysplasia : Delineation of the clinical phenotype

    NARCIS (Netherlands)

    Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Ades, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; de Geus, Christa M.; Duba, Hans-Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Sillence, David; Superti-Furga, Andrea; Veenstra-Knol, Hermine E.; Wieczorek, Dagmar; Wilson, Louise C.; Markie, David M.; Robertson, Stephen P.

    Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who

  10. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

    NARCIS (Netherlands)

    Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Adés, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; de Geus, Christa M.; Duba, Hans-Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Sillence, David; Superti-Furga, Andrea; Veenstra-Knol, Hermine E.; Wieczorek, Dagmar; Wilson, Louise C.; Markie, David M.; Robertson, Stephen P.

    2017-01-01

    Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who

  11. Prenatal 3D Ultrasound Diagnostics in Cleidocranial Dysplasia

    DEFF Research Database (Denmark)

    Hermann, NV; Hove, HD; Jørgensen, C

    2009-01-01

    A 34-year-old Caucasian woman with cleidocranial dysplasia (CCD) and a known family history of CCD was referred for an ultrasound examination in the first trimester of her second pregnancy. Molecular genetic analysis of the RUNX2 gene was non-informative. A routine 2D ultrasound examination carried...

  12. Caudal regression with sirenomelia and dysplasia renofacialis (Potter's syndrome)

    International Nuclear Information System (INIS)

    Noeldge, G.; Billmann, P.; Boehm, N.; Freiburg Univ.

    1982-01-01

    A case of caudal regression in combination with sirenomelia and dysplasia renofacialis (Potter's syndrome) is reported. The formal pathogenesis of these malformations and clinical facts are shown and discussed. Findings of plain films, postmortal angiography and pathologic-anatomical changes are demonstrated. (orig.) [de

  13. Focal fibrocartilaginous dysplasia and tibia vara: a case report

    International Nuclear Information System (INIS)

    Cockshott, W.P.; Martin, R.; Friedman, L.; Yuen, M.

    1994-01-01

    A 2-year-old black boy with focal fibrocartilaginous dysplasia is described with illustrations of the typical radiographic appearances supplemented by computed tomographic and magnetic resonance images. Since this rare condition is self-correcting, diagnosis is important so that surgical intervention and biopsy can be avoided and conservative management instituted. (orig.)

  14. Focal fibrocartilaginous dysplasia and tibia vara: a case report.

    Science.gov (United States)

    Cockshott, W P; Martin, R; Friedman, L; Yuen, M

    1994-07-01

    A 2-year-old black boy with focal fibrocartilaginous dysplasia is described with illustrations of the typical radiographic appearances supplemented by computed tomographic and magnetic resonance images. Since this rare condition is self-correcting, diagnosis is important so that surgical intervention and biopsy can be avoided and conservative management instituted.

  15. Focal fibrocartilaginous dysplasia and tibia vara: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Cockshott, W.P. (Dept. of Radiology, McMaster Univ. Medical Centre, Hamilton, ON (Canada)); Martin, R. (Dept. of Orthopedics, McMaster Univ. Medical Centre, Hamilton, ON (Canada)); Friedman, L. (Dept. of Radiology, McMaster Univ. Medical Centre, Hamilton, ON (Canada)); Yuen, M. (Dept. of Radiology, McMaster Univ. Medical Centre, Hamilton, ON (Canada))

    1994-07-01

    A 2-year-old black boy with focal fibrocartilaginous dysplasia is described with illustrations of the typical radiographic appearances supplemented by computed tomographic and magnetic resonance images. Since this rare condition is self-correcting, diagnosis is important so that surgical intervention and biopsy can be avoided and conservative management instituted. (orig.)

  16. Craniofacial and temporal bone CT findings in cleidocranial dysplasia

    International Nuclear Information System (INIS)

    Gonzalez, Guido E.; Caruso, Paul A.; Curtin, Hugh D.; Small, Juan E.; Jyung, Robert W.; Troulis, Maria J.

    2008-01-01

    Cleidocranial dysplasia (CCD) is a multistructural polyostotic genetic disorder that results from mutation of the CBFA1 gene. Hearing loss is a frequent finding in CCD. We describe the CT craniofacial findings in CCD and provide a comprehensive discussion of the CT temporal bone findings in these patients. (orig.)

  17. Placental mesenchymal dysplasia: case report with gross and histological findings.

    Science.gov (United States)

    Toscano, Marcello Pecoraro; Schultz, Regina

    2014-01-01

    Placental mesenchymal dysplasia (PMD) is a rare placental disorder characterized by placental enlargement and areas of abnormal, enlarged, grape-like villi. This condition may resemble a partial hydatidiform mole and may occur associated with Beckwith-Wiedemann syndrome (BWS) or in phenotypically normal fetuses. There were 110 cases reported so far. We describe one case with typical gross and microscopic placental lesions.

  18. Placental mesenchymal dysplasia: case report with gross and histological findings

    OpenAIRE

    Marcello Pecoraro Toscano; Regina Schultz

    2014-01-01

    Placental mesenchymal dysplasia (PMD) is a rare placental disorder characterized by placental enlargement and areas of abnormal, enlarged, grape-like villi. This condition may resemble a partial hydatidiform mole and may occur associated with Beckwith?Wiedemann syndrome (BWS) or in phenotypically normal fetuses. There were 110 cases reported so far. We describe one case with typical gross and microscopic placental lesions.

  19. Gonadal dosage during hip dysplasia radiography in the dog.

    Science.gov (United States)

    Wood, A K; Reynolds, K M; Leith, I S; Burns, P A

    1977-01-01

    Thermoluminescent dosemeters were used to estimate gonadal dosage during hip dysplasia radiography of labrador retriever dogs. The mean radiation dose to the unshielded testes was 100 millirad (mrad) and the estimated dose to the shielded testes was 9 mrad. It was considered unnecessary to shield the ovaries.

  20. Multiple Epiphyseal Dysplasia: A Clinical and Molecular Genetic Study

    NARCIS (Netherlands)

    J.B.A. van Mourik (Jan)

    1998-01-01

    textabstractMultiple epiphyseal dysplasia (MED) is one of the most common osteochondrodysplasias [Wynne-Davies and Gormley 1985]. During childhood and adolescence it affects the epiphyses of the tubular bones, resulting in axial deformities and shorter limbs.·Later in life MED can lead to