Adult Hip Flexion Contracture due to Neurological Disease: A New Treatment Protocol—Surgical Treatment of Neurological Hip Flexion Contracture

Science.gov (United States)

Nicodemo, Alberto; Arrigoni, Chiara; Bersano, Andrea; Massè, Alessandro

2014-01-01

Congenital, traumatic, or extrinsic causes can lead people to paraplegia; some of these are potentially; reversible and others are not. Paraplegia can couse hip flexion contracture and, consequently, pressure sores, scoliosis, and hyperlordosis; lumbar and groin pain are strictly correlated. Scientific literature contains many studies about children hip flexion related to neurological diseases, mainly caused by cerebral palsy; only few papers focus on this complication in adults. In this study we report our experience on surgical treatment of adult hip flexion contracture due to neurological diseases; we have tried to outline an algorithm to choose the best treatment avoiding useless or too aggressive therapies. We present 5 cases of adult hips flexion due to neurological conditions treated following our algorithm. At 1-year-follow-up all patients had a good clinical outcome in terms of hip range of motion, pain and recovery of walking if possible. In conclusion we think that this algorithm could be a good guideline to treat these complex cases even if we need to treat more patients to confirm this theory. We believe also that postoperation physiotherapy it is useful in hip motility preservation, improvement of muscular function, and walking ability recovery when possible. PMID:24707293

Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis.

Science.gov (United States)

Saroja, Aralikatte Onkarappa; Naik, Karkal Ravishankar; Nalini, Atcharayam; Gayathri, Narayanappa

2013-10-01

Bethlem myopathy and Ullrich congenital muscular dystrophy form a spectrum of collagenopathies caused by genetic mutations encoding for any of the three subunits of collagen VI. Bethlem phenotype is relatively benign and is characterized by proximal dominant myopathy, keloids, contractures, distal hyperextensibility, and follicular hyperkeratosis. Three patients from a single family were diagnosed to have Bethlem myopathy based on European Neuromuscular Centre Bethlem Consortium criteria. Affected father and his both sons had slowly progressive proximal dominant weakness and recurrent falls from the first decade. Both children aged 18 and 20 years were ambulant at presentation. All had flexion contractures, keloids, and follicular hyperkeratosis without muscle hypertrophy. Creatinine kinase was mildly elevated and electromyography revealed myopathic features. Muscle imaging revealed severe involvement of glutei and vasti with "central shadow" in rectus femoris. Muscle biopsy in the father showed dystrophic changes with normal immmunostaining for collagen VI, sarcoglycans, and dysferlin.

Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis

Directory of Open Access Journals (Sweden)

Aralikatte Onkarappa Saroja

2013-01-01

Full Text Available Bethlem myopathy and Ullrich congenital muscular dystrophy form a spectrum of collagenopathies caused by genetic mutations encoding for any of the three subunits of collagen VI. Bethlem phenotype is relatively benign and is characterized by proximal dominant myopathy, keloids, contractures, distal hyperextensibility, and follicular hyperkeratosis. Three patients from a single family were diagnosed to have Bethlem myopathy based on European Neuromuscular Centre Bethlem Consortium criteria. Affected father and his both sons had slowly progressive proximal dominant weakness and recurrent falls from the first decade. Both children aged 18 and 20 years were ambulant at presentation. All had flexion contractures, keloids, and follicular hyperkeratosis without muscle hypertrophy. Creatinine kinase was mildly elevated and electromyography revealed myopathic features. Muscle imaging revealed severe involvement of glutei and vasti with "central shadow" in rectus femoris. Muscle biopsy in the father showed dystrophic changes with normal immmunostaining for collagen VI, sarcoglycans, and dysferlin.

Functional reconstruction of ischemic contracture in the

Directory of Open Access Journals (Sweden)

TANG Hao

2011-04-01

Full Text Available 【Abstract】Objective: To discuss the method of functional reconstruction of ischemic contracture in the lower limb and propose a classification protocol for ischemic contracture in the lower limb based on its severity and prognosis. Methods: A total of 42 patients with ischemic contracture in the lower limb were included in this study. According to different types of disturbance and degrees of severity, surgical reconstructions consisting of nerve decompression, tendon lengthening or transfer, intrinsic foot muscle release and sural-tibial nerve anastomosis were performed in every patient. Results: Postoperatively, all patients were able to walk on flat ground. Drop foot was corrected in 10 patients, and 5 patients still felt some difficulty during stair activity. Split Achilles tendon transfer to flexor hallucis longus tendon was performed in 12 patients, and their walking stability was improved. Seven patients accepted ipsilateral suraltibial nerve anastomosis, and sensitivity recovery reached to S2 in 2 patients and S3 in 5 patients. Conclusions: Ischemic contracture in the lower limb is a devastating complication after lower limb trauma. The prevention of contracture is much more important than the treatment of an established contracture. Split Achilles tendon transfer to flexor hallucis longus tendon and sural-tibial nerve anastomosis, which was initially implemented by us, could improve the functional recovery of ischemic contracture in lower limbs, and thus provides a new alternative for functional reconstruction of ischemic contracture in the lower limb. Key words: Ischemic contracture; Classification; Recovery of function

[Gluteal muscle contracture release for the treatment of gluteal muscle contracture induced knee osteoarthritis: a report of 52 cases].

Science.gov (United States)

Wang, Cheng-xiang; Gong, Yu-suo; Li, Sheng-hua; Liu, Hai-ping; Chai, Xi-ping

2011-07-01

To investigate clinical efficacy and significance of gluteal muscle contracture release for the treatment of gluteal muscle contracture induced knee osteoarthritis. From January 2008 to June 2010,52 patients with gluteal muscle contracture induced knee osteoarthritis were reviewed. Among the patients,15 patients were male and 37 patients were female, ranging in age from 15 to 45 years, with an average of 35 years. Eighteen patients had left knee osteoarthritis, 30 patients had right osteoarthritis, and 4 patients had double knee osteoarthritis. All the patients were treated with gluteal muscle contracture release. Lysholm knee score was used to evaluate therapeutic effects before and after operation. All the patients were followed up,and the duration ranged from 12 to 37 years,with a mean of 15 months. The Lysholm knee score improved from preoperative (68.12 +/- 0.78) points to postoperative (91.23 +/- 0.47) points at the last follow-up, the difference had statistical difference (t=31.269, Pmuscle contracture release is effective to relieve symptoms of gluteal muscles contracture and knee osteoarthritis. The patients with gluteal muscle contracture should be treated early so as to prevent effects of gluteal muscle contracture on knee joint, slow down degeneration of knee joint at early stage, and prevent occurrence of knee osteoarthritis.

[Amyoplasia congenita: a serious congenital abnormality with a relatively favorable prognosis

NARCIS (Netherlands)

Petru, R.; Verrips, A.; Ravenswaaij-Arts, C.M.A. van

2002-01-01

After an uneventful pregnancy a girl was born with serious joint contractures and several fractures of the long bones. The family history was negative for congenital abnormalities. Based on the distinct clinical presentation the diagnosis was 'amyoplasia', which is a partial aplasia of skeletal

X-linked lethal infantile spinal muscular atrophy: From clinical description to molecular mapping

Energy Technology Data Exchange (ETDEWEB)

Baumbach, L.; Schiavi, A. [Univ. of Miami, FL (United States)] [and others

1994-09-01

The proximal spinal muscular atrophies (PSMA), one of the most common forms of lower motor neuron disease in children, are characterized by progressive muscle weakness due to loss of anterior horn cells. All three autosomal recessive forms have been mapped to chromosome 5q11.2-11.3, implying an allelic association between these disorders. Recent evidence from our laboratories, as well as others, suggests that a distinct form of lethal neonatal spinal muscular atrophy, associated with early onset contractures, is determined by a gene on the X chromosome. We report our efforts in mapping this disease locus. Our original studies have focused on two unrelated multigenerational families with similar clinical presentations of severe hypotonia, muscle weakness, and a disease course similar to Werdnig Hoffman except for the additional finding of congenital or early onset contractures. Muscle biopsy and/or autopsy were indicative of anterior horn cell loss in affected males. Disease occurrence in each of the families was consistent with an X-linked recessive mode of inheritance. Subsequently, two additional families have been identified, as well as several sporadic male cases. Linkage analysis has been completed in one of these families using highly polymorphic repeats dispersed 10 cM on the X chromosome. Interpretation of results was achieved using an automated data acquisition program. Analysis of over 300 haplotypes generated using PCR-based DNA markers have identified two 16 cM regions on Xp with complete concordance to the disease phenotype. Our currents efforts are focused on the region surrounding the Kallman gene, in attempts to better define a candidate region, as well as analyze possible candidate genes within this region.

Tessier Number 30 Median Mandibular Cleft With Congenital Heart Anomalies in Qena, Egypt.

Science.gov (United States)

Ali, Ahmed Ali Abdelrahim

2018-01-01

Median cleft deformities of the lower lip and mandible are very rare congenital anomalies. Our patient had median cleft of the lower lip, mandible, and the chin with tongue duplication, ankyloglossia, and cleft strap muscles with 2 neck contracture bands. This anomaly was associated with congenital heart disease transposition of great vessels, large ventricular septal defect, and severe pulmonary stenosis. Early repair was done at 6 months to improve feeding.

CT diagnosis of gluteal muscle contracture in children

International Nuclear Information System (INIS)

Wang Longsheng; Bao Jiaqi; Pan Zhili; Hu Kefei; Jiang Jiatan; Zhang Hongliang; Sun Jun; Yuan Yi

2004-01-01

Objective: To investigate the CT manifestations of gluteal muscle contracture (GMC) in children. Methods: Sixty-one cases of GMC diagnosed by CT and proved by surgery and pathology were studied with 20 cases of non-GMC as the control group. Results: 57 cases (93.4%) were bilateral contracture and 4 cases (6.6%) were unilateral contracture in 61 cases of GMC; The main CT manifestations were as follows: (1) gluteal muscle volume shrunk. There were 118 (100.0%) sides of gluteus maximus contracture , 16 ( 13.6 %) sides of gluteus medius contracture , 12 ( 10.2 %) sides of piriformis contracture, 4 (3.4%) sides of gluteus minimus contracture, 4 (3.4%) sides of capsula articularis contracture; (2) calcification and necrosis in injection zones. There were 95 (80.5%) sides of gluteal calcification and 24 (20.3%) sides of gluteal necrosis; (3) stripe crispation fascia. There were 81 stripes crispation fascia located outboard laterals of gluteus maximus, 36 located inboard laterals of the latter; (4) gluteal muscle clearance widened. There were 38 (32.2%) sides of light degree gluteal muscle contracture, 53 (44.9%) sides of middle degree, and 27 (22.9%) sides of heavy degree. Conclusion: CT can accurately diagnose GMC and it plays an important role in the evaluation of pathological extent and degree of GMC

Plantarflexion Contracture in the mdx Mouse

Science.gov (United States)

Garlich, Michael W.; Baltgalvis, Kristen A.; Call, Jarrod A.; Dorsey, Lisa L.; Lowe, Dawn A.

2012-01-01

Objective Contractures are a major clinical issue for patients with muscular dystrophies. However, it is unknown whether contractures are present in the widely used mdx mouse model of Duchenne muscular dystrophy. Therefore, the objectives of this study were to develop methods to measure muscle contractures in mice, to determine whether plantarflexion contractures are present in mdx mice, and to analyze the composition of the major muscles involved. Design Hindlimbs of eight wild type and six mdx mice were assessed every 2 wks during the course of a 12-wk study. Assessments included range of motion and in vivo torques about the ankle. At the end of the study, mice were euthanized, and muscles were analyzed for composition. Results The mdx mice had ~10 degrees less dorsiflexion, increased passive torque moving the ankle into dorsiflexion, and an increased passive-to-active torque ratio relative to wild type mice. Gastrocnemius muscle composition alterations included increased wet mass, decreased protein content, and increased collagen. Conclusions The results indicate that mdx mice have plantarflexion contractures similar to those seen in children with Duchenne muscular dystrophy. In future studies, these measures can be used to assess strategies to slow the progression of contractures that occur with muscular dystrophies. PMID:21403594

Primary abductor hip contracture as diagnostic, prognostic and therapeutic problem in child hip pathology

Directory of Open Access Journals (Sweden)

Pajić Miloš

2007-01-01

Full Text Available Coxa obliqua represents a special functional entity in the pathology of the child hip. Authors have confirmed the results of S.L. Weissman and B. Strinovic which claimed that the abductor contracture of the hip was a primary congenital condition that developed as a result of intrauterine malposition, leading later to the contralateral adductor contracture. Critical period for the development of complications was between 6 and 8 month after birth, adductor contracture might keep persisting together with the development of acetabular dysplasia, and later on with ipsilateral subluxation. This malformation has usually been diagnosed within 3 and 6 months of age. It could be connected with some other signs of malposition, such as plagiocephaly, torticollis or infantile thoracic C scoliosis. For the diagnosis of coxa obliqua, the examination of hips in the prone position was very important and the ultrasonic and radiological examinations were crucial. The applied treatment used to be exclusively physical rehabilitation. Wide diapering has been contraindicated. In this study, we included 2,500 newborns, 1,300 boys and 1,200 girls (5,000 hips. In 22 cases of coxa obliqua (10‰, the excellent results were obtained in 96% of cases. In two unsuccessfully treated cases, a contralateral dysplasia developed, and in one untreated, subluxation. The authors are advocating a systematic and early detection and treatment of the primary coxa obliqua. .

Intrinsic contractures of the hand.

Science.gov (United States)

Paksima, Nader; Besh, Basil R

2012-02-01

Contractures of the intrinsic muscles of the fingers disrupt the delicate and complex balance of intrinsic and extrinsic muscles, which allows the hand to be so versatile and functional. The loss of muscle function primarily affects the interphalangeal joints but also may affect etacarpophalangeal joints. The resulting clinical picture is often termed, intrinsic contracture or intrinsic-plus hand. Disruption of the balance between intrinsic and extrinsic muscles has many causes and may be secondary to changes within the intrinsic musculature or the tendon unit. This article reviews diagnosis, etiology, and treatment algorithms in the management of intrinsic contractures of the fingers. Copyright © 2012 Elsevier Inc. All rights reserved.

Effects of contracture on gait kinematics: A systematic review.

Science.gov (United States)

Attias, Michael; Chevalley, Odile; Bonnefoy-Mazure, Alice; De Coulon, Geraldo; Cheze, Laurence; Armand, Stéphane

2016-03-01

Contractures of a major joint in the lower limbs may impair human walking in addition to other daily living activities. A contracture is defined as the inability of a joint to perform the full range of motion and excessive resistance during passive mobilization of the joint. Few studies have reported methods describing how to evaluate contractures. Understanding the association among all of these studies seems essential to improve patient management. Therefore, we conducted a systematic review on this topic to elucidate the influence of contractures on gait kinematics. An electronic search in the literature will be conducted. Studies were screened by title and abstract and full texts were evaluated secondarily for definitive inclusion. The quality of the included studies was assessed independently by the two review authors with the Modified Quality Assessment Checklist. The included studies were separated into three categories: pathological contracture versus healthy controls (descriptive), simulated contracture versus healthy controls (experimental), and pre- and post-kinematics after surgical muscle lengthening (surgery). From a total of 4402 references, 112 original articles were selected, and 28 studies were identified in this systematic review. No significant difference between raters was observed on the total score of the Modified Quality Assessment Checklist. Contractures influence walking depending on the location (muscle) and the contracture level (muscle-tendon length). After giving a definition of contracture, this review identified some contracture alterations, such as plantarflexion, knee flexion and hip flexion contractures, with a kinematic description and presented possible different compensations. Copyright © 2016 Elsevier Ltd. All rights reserved.

Contracture deformity

Science.gov (United States)

... PA: Elsevier Saunders; 2014:chap 126. Skalsky AJ, McDonald CM. Prevention and management of limb contractures in ... M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health ...

Spectrum of Features in Pterygium Syndrome

Directory of Open Access Journals (Sweden)

Sanjay Y. Parashar

2006-04-01

Full Text Available Pterygium syndrome is a complex and rare congenital deformity that consists of contractures involving multiple flexural surfaces and associated craniofacial anomalies. It often has associated conditions, including anomalies of the cardiovascular, respiratory, gastrointestinal and genitourinary systems. It may present in different forms, including multiple pterygium syndrome of Escobar, lethal multiple pterygium syndrome, popliteal pterygium syndrome, lethal popliteal syndrome (Bartsocas-Papas syndrome and arthrogryposis multiplex congenita. The clinical presentation, multidisciplinary management and the long-term outcome in three patients with this condition are presented.

Contractures and muscle disease.

Science.gov (United States)

Walters, R Jon

2016-08-01

Contractures are one of a handful of signs in muscle disease, besides weakness and its distribution, whose presence can help guide us diagnostically, a welcome star on the horizon. Contractures are associated with several myopathies, some with important cardiac manifestations, and consequently are important to recognise; their presence may also provide us with a potential satisfying 'penny dropping' diagnostic moment. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.

Science.gov (United States)

Poduri, Annapurna; Chitsazzadeh, Vida; D'Arrigo, Stefano; Fedrizzi, Ermellina; Pantaleoni, Chiara; Riva, Daria; Busse, Claudia; Küster, Helmut; Duplessis, Adre; Gaitanis, John; Sahin, Mustafa; Garganta, Cheryl; Topcu, Meral; Dies, Kira A; Barry, Brenda J; Partlow, Jennifer; Barkovich, A James; Walsh, Christopher A; Chang, Bernard S

2010-08-01

Bilateral perisylvian polymicrogyria (BPP) is a well-recognized malformation of cortical development commonly associated with epilepsy, cognitive impairment, and oromotor apraxia. Reports have suggested the association of BPP with arthrogryposis multiplex congenita. We sought to investigate the clinical, electrophysiological, and neuroradiological features of this combined syndrome to determine if there are unique features that distinguish BPP with arthrogryposis from BPP alone. Cases of BPP with congenital arthrogryposis were identified from a large research database of individuals with polymicrogyria. Clinical features (including oromotor function, seizures, and joint contractures), MR brain imaging, and results of neuromuscular testing were reviewed. Ten cases of BPP with congenital arthrogryposis were identified. Most cases had some degree of oromotor apraxia. Only a few had seizures, but a majority of cases were still young children. Electrophysiological studies provided evidence for lower motor neuron or peripheral nervous system involvement. On brain imaging, bilateral polymicrogyria (PMG) centered along the Sylvian fissures was seen, with variable extension frontally or parietally; no other cortical malformations were present. We did not identify obvious neuroimaging features that distinguish this syndrome from that of BPP without arthrogryposis. The clinical and neuroimaging features of the syndrome of BPP with congenital arthrogryposis appear similar to those seen in cases of isolated BPP without joint contractures, but electrophysiological studies often demonstrate coexistent lower motor neuron or peripheral nervous system pathology. These findings suggest that BPP with arthrogryposis may have a genetic etiology with effects at two levels of the neuraxis. Copyright 2009 Elsevier B.V. All rights reserved.

Contractures and involuntary muscle overactivity in severe brain injury.

Science.gov (United States)

Pohl, Marcus; Mehrholz, Jan; Rockstroh, Günter; Rückriem, Stefan; Koch, Rainer

2007-04-01

The aim of the present study was to evaluate the association of contractures with an increase or reduction of non-spastic muscle overactivity due to severe cerebral damage. Forty-five patients with tetraparesis after severe cerebral damage were investigated. Three groups were defined based on the presence of spasticity (revealed as resistance to passive stretch (= hypertonia)), and the presence of contracture of the relevant knee joint: Group(s) (17 patients with hypertonia without contracture), Group(s+c) (20 patients with hypertonia and contracture), and Group(c) (eight patients without hypertonia and with contracture). In all groups spontaneous involuntary muscle activity was assessed continuously over a 12-hour period through isometric measurement of knee joint flexion torque. A mathematical algorithm differentiated an hourly muscle activity spectrum (PI(h)). The frequency of peaks (peaks(h)) from the activity spectrum was determined. We revealed that Group(s) had higher PI(h) and more frequent peaks(h) compared with Group(s+c) and Group(c) (p0.05). The presence of contractures was associated with lower involuntary muscle overactivity in terms of lower PI(h) and less frequent peaks(h), indicating that contractures may be associated with reduced non-spastic positive features of the upper motor neurone syndrome in patients with severe brain damage.

Myofibroblast Upregulators are Elevated in Joint Capsules in Posttraumatic Contractures

OpenAIRE

Hildebrand, Kevin A.; Zhang, Mei; Hart, David A.

2007-01-01

We hypothesized specific growth factors are increased in the elbow capsules of patients with post traumatic elbow contractures. A model of surgically induced joint contracture in rabbit knees was developed to study the growth factor expression in joint contractures. This study demonstrates this model mimics the human condition and analyzes how the growth factor levels decrease with time in rabbit knees with contractures. Reverse transcription polymerase chain reaction was used to measure mRNA...

Contracture of Slow Striated Muscle during Calcium Deprivation

Science.gov (United States)

Irwin, Richard L.; Hein, Manfred M.

1963-01-01

When deprived of calcium the slow striated muscle fibers of the frog develop reversible contractures in either hypertonic or isotonic solutions. While calcium deprivation continues because of a flowing calcium-free solution the muscles relax slowly and completely. Restoration of calcium during contracture relaxes the muscle promptly to initial tension. When relaxed during calcium lack the return of calcium does not change tension and the muscle stays relaxed. When contractures are induced by solutions containing small amounts of calcium relaxation does not occur or requires several hours. The rate of tension development depends upon the rate at which calcium moves outward since the contractures develop slower in low concentrations of calcium and are absent or greatly slowed in a stagnant calcium-free solution. Withdrawal of calcium prevents the contractile responses to ACh, KCl, or electrical stimulation through the nerve. Muscles return to their original excitability after calcium is restored. Origin of the contractures is unrelated to nerve activity since they are maximal during transmission failure from calcium lack, occur in denervated muscles, and are not blocked by high concentrations of d-tubocurarine, procaine, or atropine. The experiments also indicate that the contractures do not originate from repetitive activity of muscle membranes. The findings are most simply explained by relating the outward movement of calcium as a link for initiating contraction in slow type striated muscle. PMID:14065284

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

Directory of Open Access Journals (Sweden)

Jacoba J Louw

2018-01-01

Full Text Available Congenital or neonatal cardiomyopathies are commonly associated with a poor prognosis and have multiple etiologies. In two siblings, a male and female, we identified an undescribed type of lethal congenital restrictive cardiomyopathy affecting the right ventricle. We hypothesized a novel autosomal recessive condition. To identify the cause, we performed genetic, in vitro and in vivo studies. Genome-wide SNP typing and parametric linkage analysis was done in a recessive model to identify candidate regions. Exome sequencing analysis was done in unaffected and affected siblings. In the linkage regions, we selected candidate genes that harbor two rare variants with predicted functional effects in the patients and for which the unaffected sibling is either heterozygous or homozygous reference. We identified two compound heterozygous variants in KIF20A; a maternal missense variant (c.544C>T: p.R182W and a paternal frameshift mutation (c.1905delT: p.S635Tfs*15. Functional studies confirmed that the R182W mutation creates an ATPase defective form of KIF20A which is not able to support efficient transport of Aurora B as part of the chromosomal passenger complex. Due to this, Aurora B remains trapped on chromatin in dividing cells and fails to translocate to the spindle midzone during cytokinesis. Translational blocking of KIF20A in a zebrafish model resulted in a cardiomyopathy phenotype. We identified a novel autosomal recessive congenital restrictive cardiomyopathy, caused by a near complete loss-of-function of KIF20A. This finding further illustrates the relationship of cytokinesis and congenital cardiomyopathy.

Nils Silfverskiöld (1888-1957) and gastrocnemius contracture.

Science.gov (United States)

Singh, Dishan

2013-06-01

Nils Silfverskiöld was an orthopaedic surgeon, Swedish aristocrat, bon vivant, Olympic gymnast, left wing intellectual and anti-Nazi who described that the force required to dorsiflex the ankle in spastic equinus contracture decreased with knee flexion in isolated gastrocnemius contracture. He advocated detaching the origins of the gastrocnemii from the femur and reattaching them to the tibia. The Silfverskiöld knee flexion test has now also been adapted to distinguish between isolated gastrocnemius contracture and combined shortening of the gastrocnemius-soleus complex in non-spastic contracture by measuring the range of ankle dorsiflexion with the knee flexed and the knee straight. Copyright © 2012 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.

[Joint contractures in nursing textbooks].

Science.gov (United States)

Bartoszek, G; Meyer, G; Thiesemann, R

2014-01-01

The transparency criteria of the German statutory health insurance on joint contracture prevention have led to controversies about the appropriate assessment, prevention and treatment as well as to various actions in nursing practice. However, appropriate nursing assessments and proven treatment options are lacking so far. It is unclear whether textbooks on nursing reflect these uncertainties. Search for textbooks on nursing through internet-based search engines and publisher registers, data extraction by one investigator and control by a second. A total of 35 textbooks with contributions on joint contractures were identified of which 25 included a definition, causes/risk factors are presented in 32 textbooks and assessments are presented in 5 books. Most often positioning into a physiological or functional neutral position and passive moving of limbs are recommended as passive prophylaxis. Recommended therapeutic and preventive options do not differ. None of the textbooks reflect that there is a lack of scientific knowledge on the subject. Textbooks on nursing do not deal with complete and scientific sound information on joint contractures.

Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation

Science.gov (United States)

Gregory, L. C.; Humayun, K. N.; Turton, J. P. G.; McCabe, M. J.; Rhodes, S. J.

2015-01-01

Background: LHX4 encodes a member of the LIM-homeodomain family of transcription factors that is required for normal development of the pituitary gland. To date, only incompletely penetrant heterozygous mutations in LHX4 have been described in patients with variable combined pituitary hormone deficiencies. Objective/Hypothesis: To report a unique family with a novel recessive variant in LHX4 associated with a lethal form of congenital hypopituitarism that was identified through screening a total of 97 patients. Method: We screened 97 unrelated patients with combined pituitary hormone deficiency, including 65% with an ectopic posterior pituitary, for variants in the LHX4 gene using Sanger sequencing. Control databases (1000 Genomes, dbSNP, Exome Variant Server, ExAC Browser) were consulted upon identification of variants. Results: We identified the first novel homozygous missense variant (c.377C>T, p.T126M) in two deceased male patients of Pakistani origin with severe panhypopituitarism associated with anterior pituitary aplasia and posterior pituitary ectopia. Both were born small for gestational age with a small phallus, undescended testes, and mid-facial hypoplasia. The parents' first-born child was a female with mid-facial hypoplasia (DNA was unavailable). Despite rapid commencement of hydrocortisone and T4 in the brothers, all three children died within the first week of life. The LHX4(p.T126M) variant is located within the LIM2 domain, in a highly conserved location. The absence of homozygosity for the variant in over 65 000 controls suggests that it is likely to be responsible for the phenotype. Conclusion: We report, for the first time to our knowledge, a novel homozygous mutation in LHX4 associated with a lethal phenotype, implying that recessive mutations in LHX4 may be incompatible with life. PMID:25871839

Glenohumeral abduction contracture in children with unresolved neonatal brachial plexus palsy.

Science.gov (United States)

Eismann, Emily A; Little, Kevin J; Laor, Tal; Cornwall, Roger

2015-01-21

Following neonatal brachial plexus palsy, the Putti sign-obligatory tilt of the scapula with brachiothoracic adduction-suggests the presence of glenohumeral abduction contracture. In the present study, we utilized magnetic resonance imaging (MRI) to quantify this glenohumeral abduction contracture and evaluate its relationship to shoulder joint deformity, muscle atrophy, and function. We retrospectively reviewed MRIs of the thorax and shoulders obtained before and after shoulder rebalancing surgery (internal rotation contracture release and external rotation tendon transfer) for twenty-eight children with unresolved neonatal brachial plexus palsy. Two raters measured the coronal positions of the scapula, thoracic spine, and humeral shaft bilaterally on coronal images, correcting trigonometrically for scapular protraction on axial images. Supraspinatus, deltoid, and latissimus dorsi muscle atrophy was assessed, blinded to other measures. Correlations between glenohumeral abduction contracture and glenoid version, humeral head subluxation, passive external rotation, and Mallet shoulder function before and after surgery were performed. MRI measurements were highly reliable between raters. Glenohumeral abduction contractures were present in twenty-five of twenty-eight patients, averaging 33° (range, 10° to 65°). Among those patients, abductor atrophy was present in twenty-three of twenty-five, with adductor atrophy in twelve of twenty-five. Preoperatively, greater abduction contracture severity correlated with greater Mallet global abduction and hand-to-neck function. Abduction contracture severity did not correlate preoperatively with axial measurements of glenohumeral dysplasia, but greater glenoid retroversion was associated with worse abduction contractures postoperatively. Surgery improved passive external rotation, active abduction, and hand-to-neck function, but did not change the abduction contracture. A majority of patients with persistent shoulder weakness

TREATMENT OF POSTTRAUMATIC ISCHEMIC CONTRACTURES OF THE THUMB

Directory of Open Access Journals (Sweden)

K. S. Melikhov

2010-01-01

Full Text Available Results of surgical treatment of 21 patients with posttraumatic ischemic contractures of the first finger of a hand were analyzed. The working classification in which there are three degrees of a contracture depending on size of deficiency of a dermal cord of the first interdigital interval was offered. Advanced tactics of surgical treatment of such pathology was developed. Thus, during the first stage we carried out abduction of the first finger by the elimination of cicatrical, muscle and arthrogenic contracture components. At the second stage of treatment, if it was necessary, active opposition of the first finger was restored.

Leg contracture in mice after single and multifractionated 137Cs exposure

International Nuclear Information System (INIS)

Masuda, K.; Hunter, N.; Stone, H.B.; Withers, H.R.

1987-01-01

This is a report of studies of time-dose relationships for post-irradiation leg contractures in mice. The isoeffect doses for various degrees of contracture, measured 250 days after irradiation, increased with the number of fractions, but not with the overall treatment times, throughout 30 days. The isoeffect curves relating the total doses for given levels of responses to the doses per fraction were steeper for leg contractures than for acute skin reactions. The alpha/beta ratios ranged from 1.4 to 5.0 Gy, depending on the degrees of contracture. They were less than the 7.5 to 50 Gy for acute skin reactions as determined in previous experiments using the same animals and irradiation systems. Thus, the data resembled those from other slowly-responding normal tissues such as the spinal cord, kidney and lung. The leg contracture consisted of dermatogenic, myogenic, and arthrogenic components; after the mice were sacrificed there was residual contracture following removal of the skin and muscle. Inhibition of bone growth accounted for only a small proportion of the contracture. The overall response reflected responses of several tissue types

Leg contracture in mice after single and multifractionated 137Cs exposure

Energy Technology Data Exchange (ETDEWEB)

Masuda, K.; Hunter, N.; Stone, H.B.; Withers, H.R.

1987-08-01

This is a report of studies of time-dose relationships for post-irradiation leg contractures in mice. The isoeffect doses for various degrees of contracture, measured 250 days after irradiation, increased with the number of fractions, but not with the overall treatment times, throughout 30 days. The isoeffect curves relating the total doses for given levels of responses to the doses per fraction were steeper for leg contractures than for acute skin reactions. The alpha/beta ratios ranged from 1.4 to 5.0 Gy, depending on the degrees of contracture. They were less than the 7.5 to 50 Gy for acute skin reactions as determined in previous experiments using the same animals and irradiation systems. Thus, the data resembled those from other slowly-responding normal tissues such as the spinal cord, kidney and lung. The leg contracture consisted of dermatogenic, myogenic, and arthrogenic components; after the mice were sacrificed there was residual contracture following removal of the skin and muscle. Inhibition of bone growth accounted for only a small proportion of the contracture. The overall response reflected responses of several tissue types.

Post-burn scars and scar contractures

Directory of Open Access Journals (Sweden)

Goel Arun

2010-10-01

Full Text Available The mortality and morbidity from burns have diminished tremendously over the last six to seven decades. However, these do not truly reflect whether the victim could go back to society as a useful person or not and lead a normal life because of the inevitable post-burn scars, contractures and other deformities which collectively have aesthetic and functional considerations. This article gives an overview of the post-burn scars and scar contractures, especially their prevention, minimisation and principles of management.

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

OpenAIRE

Maluenda, J?r?me; Manso, Constance; Quevarec, Loic; Vivanti, Alexandre; Marguet, Florent; Gonzales, Marie; Guimiot, Fabien; Petit, Florence; Toutain, Annick; Whalen, Sandra; Grigorescu, Romulus; Coeslier, Anne?Dieux; Gut, Marta; Gut, Ivo; Laquerri?re, Annie

2016-01-01

Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through linkage analysis, homozygosity mapping, and exome sequencing in four unrelated families affected by lethal AMC, we identified biallelic mutations in GLDN in the affected individuals. GLDN encodes gliomedin, a secreted cell adhesion molecule involved in the formation of the nodes of Ranvier. Transmission electron microscopy...

Serial casting for elbow flexion contractures in neonatal brachial plexus palsy.

Science.gov (United States)

Duijnisveld, B J; Steenbeek, D; Nelissen, R G H H

2016-09-02

The objective of this study was to evaluate the effectiveness of serial casting of elbow flexion contractures in neonatal brachial plexus palsy. A prospective consecutive cohort study was performed with a median follow-up of 5 years. Forty-one patients with elbow flexion contractures ≥ 30° were treated with serial casting until the contracture was ≤ 10°, for a maximum of 8 weeks. Range of motion, number of recurrences and patient satisfaction were recorded and analyzed using Wilcoxon signed-rank and Cox regression tests. Passive extension increased from a median of -40° (IQR -50 to -30) to -15° (IQR -10 to -20, p casting had to be prematurely replaced by night splinting due to complaints. Serial casting improved elbow flexion contractures, although recurrences were frequent. The severity of elbow flexion contracture is a predictor of recurrence. We recommend more research on muscle degeneration and determinants involved in elbow flexion contractures to improve treatment strategies and prevent side-effects.

Contribution of denervated muscle to contractures after neonatal brachial plexus injury: not just muscle fibrosis.

Science.gov (United States)

Nikolaou, Sia; Liangjun, Hu; Tuttle, Lori J; Weekley, Holly; Christopher, Wylie; Lieber, Richard L; Cornwall, Roger

2014-03-01

We investigated the contribution of muscle fibrosis to elbow flexion contractures in a murine model of neonatal brachial plexus injury (NBPI). Four weeks after NBPI, biceps and brachialis fibrosis were assessed histologically and compared with the timing of contracture development and the relative contribution of each muscle to contractures. Modulus of elasticity and hydroxyproline (collagen) content were measured and correlated with contracture severity. The effect of halofuginone antifibrotic therapy on fibrosis and contractures was investigated. Elbow contractures preceded muscle fibrosis development. The brachialis was less fibrotic than the biceps, yet contributed more to contractures. Modulus and hydroxyproline content increased in both elbow flexors, but neither correlated with contracture severity. Halofuginone reduced biceps fibrosis but did not reduce contracture severity. Contractures after NBPI cannot be explained solely by muscle fibrosis, arguing for investigation of alternate pathophysiologic targets for contracture prevention and treatment. Copyright © 2013 Wiley Periodicals, Inc.

New perspectives on the development of muscle contractures following central motor lesions

DEFF Research Database (Denmark)

Pingel, Jessica; Bartels, Else Marie; Nielsen, Jens Bo

2017-01-01

Muscle contractures are common in patients with central motor lesions, but the mechanisms responsible for the development of contractures are still unclear. Increased or decreased neural activation, protracted placement of a joint with the muscle in a short position and muscle atrophy have been...... suggested to be involved, but none of these mechanisms are sufficient to explain the development of muscle contractures alone. Here we propose that changes in tissue homeostasis in the neuro-muscular-tendon-connective tissue complex is at the heart of the development of contractures, and that an integrated...... physiological understanding of the interaction between neural, mechanical and metabolic factors, as well as genetic and epigenetic factors, is necessary in order to unravel the mechanisms that result in muscle contractures. We hope thereby to contribute to a reconsideration of how and why muscle contractures...

New minimally invasive option for the treatment of gluteal muscle contracture.

Science.gov (United States)

Ye, Bin; Zhou, Panyu; Xia, Yan; Chen, Youyan; Yu, Jun; Xu, Shuogui

2012-12-01

Gluteal muscle contracture is a clinical syndrome that involves contracture and distortion of the gluteal muscles and fascia fibers due to multiple causes. Physical examination demonstrates a characteristic gait due to hip adduction and internal thigh rotation. This study introduces a new minimally invasive method for surgical release of gluteal muscle contracture. Patients with gluteal muscle contracture were assigned to 4 categories: type A, contracture occurred mainly in the iliotibial tract; type B, contracture occurred in the Iliotibial tract and gluteus maximus; type C1, movement of the contraction band was palpable and a snapping sound was audible during squatting; and type C2, movement of the contraction band was not palpable or almost absent and a snapping sound was audible during squatting. This classification method allowed prediction of the anatomic location of these pathological contractures and determination of the type of surgery required. Four critical points were used to define the operative field and served as points to mark a surgical incision smaller than 4 mm. The contracture was easily released in this carefully marked operative field without causing significant neurovascular damage. Over a period of 5 years, between March 2003 and June 2008, the authors treated 1059 patients with this method and achieved excellent outcomes. Most patients were fully active within 12 weeks, with the assistance of an early postoperative rehabilitation program. The most significant complication was a postoperative periarticular hematoma, which occurred in 3 patients within 10 days postoperatively and required surgical ligation of the bleeding vessel. Copyright 2012, SLACK Incorporated.

Disease: H00660 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H00660 Congenital contractural arachnodactyly (CCA); Beals syndrome Congenital contract...-like appearance and arachnodactyly. Most affected individuals have 'crumpled' ears, contractures of major j...z DM ... TITLE ... Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. ... JOURNAL ... Nat Genet 11:456-8 (1995) DOI:10.1038/ng1295-456 ...

Prevalence of scar contractures after burn : A systematic review

NARCIS (Netherlands)

Oosterwijk, Anouk M; Mouton, Leonora J; Schouten, Hennie; Disseldorp, Laurien M; van der Schans, Cees P.; Nieuwenhuis, Marianne K

OBJECTIVE: Burn scar contractures are the pathological outcome of excessive scarring and ongoing scar contraction. Impairment of joint range of motion is a threat to performing activities in daily living. To direct treatment strategies to prevent and/or correct such contractures, insight into the

New perspectives on the development of muscle contractures following central motor lesions.

Science.gov (United States)

Pingel, J; Bartels, E M; Nielsen, J B

2017-02-15

Muscle contractures are common in patients with central motor lesions, but the mechanisms responsible for the development of contractures are still unclear. Increased or decreased neural activation, protracted placement of a joint with the muscle in a short position and muscle atrophy have been suggested to be involved, but none of these mechanisms are sufficient to explain the development of muscle contractures alone. Here we propose that changes in tissue homeostasis in the neuromuscular-tendon-connective tissue complex is at the heart of the development of contractures, and that an integrated physiological understanding of the interaction between neural, mechanical and metabolic factors, as well as genetic and epigenetic factors, is necessary in order to unravel the mechanisms that result in muscle contractures. We hope thereby to contribute to a reconsideration of how and why muscle contractures develop in a way which will open a window towards new insight in this area in the future. © 2016 The Authors. The Journal of Physiology © 2016 The Physiological Society.

Feasibility and reliability of using an exoskeleton to emulate muscle contractures during walking.

Science.gov (United States)

Attias, M; Bonnefoy-Mazure, A; De Coulon, G; Cheze, L; Armand, S

2016-10-01

Contracture is a permanent shortening of the muscle-tendon-ligament complex that limits joint mobility. Contracture is involved in many diseases (cerebral palsy, stroke, etc.) and can impair walking and other activities of daily living. The purpose of this study was to quantify the reliability of an exoskeleton designed to emulate lower limb muscle contractures unilaterally and bilaterally during walking. An exoskeleton was built according to the following design criteria: adjustable to different morphologies; respect of the principal lines of muscular actions; placement of reflective markers on anatomical landmarks; and the ability to replicate the contractures of eight muscles of the lower limb unilaterally and bilaterally (psoas, rectus femoris, hamstring, hip adductors, gastrocnemius, soleus, tibialis posterior, and peroneus). Sixteen combinations of contractures were emulated on the unilateral and bilateral muscles of nine healthy participants. Two sessions of gait analysis were performed at weekly intervals to assess the reliability of the emulated contractures. Discrete variables were extracted from the kinematics to analyse the reliability. The exoskeleton did not affect normal walking when contractures were not emulated. Kinematic reliability varied from poor to excellent depending on the targeted muscle. Reliability was good for the bilateral and unilateral gastrocnemius, soleus, and tibialis posterior as well as the bilateral hamstring and unilateral hip adductors. The exoskeleton can be used to replicate contracture on healthy participants. The exoskeleton will allow us to differentiate primary and compensatory effects of muscle contractures on gait kinematics. Copyright © 2016 Elsevier B.V. All rights reserved.

[Diagnosis and treatment of unilateral gluteal muscle contracture].

Science.gov (United States)

Chen, Xiaoliang; Tang, Xueyang; Jiang, Xin; Wang, Daoxi; Peng, Mingxing; Liu, Lijun

2011-05-01

To investigate the pathogenesis, diagnosis, and treatment of unilateral gluteal muscle contracture. Between January 1990 and September 2009, 41 patients with unilateral gluteal muscle contracture were treated and the clinical data were retrospectively analysed. Among them, 24 were male and 17 were female with an age range from 6 to 29 years (mean, 12 years). Thirty-nine patients had a definite history of repeat intragluteal injection. The locations were the left side in 9 cases and the right side in 32 cases. The main clinical manifestations included lameness and abnormal gait. The medical examination showed pelvic oblique and relative inequality of lower limbs with a mean difference of 2.1 cm (range, 1.2-3.8 cm) in the distance form navel to malleolus medials. The X-ray films of pelvis showed outpouching trochanter of femur and pelvic oblique. The CT scans showed no abnormal finding except pelvic oblique and gluteal muscle contracture. The arc longitudinal incision was made into the posterolateral area nearby the greater trochanter and then lysis of the gluteal muscles was performed, followed by the skin traction of both legs and rehabilitation exercise. All incisions healed by first intention. Forty-one patients were followed up 1-20 years (mean, 5 years), and the signs of gluteal muscle contracture disappeared. After 1 year of operation, 34 patients had equal leg length, 5 patients had mild pelvic oblique, and 2 patients had obvious pelvic oblique. According to LIU Guohui et al. evaluation standard, the results were excellent in 33 cases, good in 6 cases, and poor in 2 cases with an excellent and good rate of 95.12% at 1 year after operation. Unilateral gluteal muscle contracture leads to pelvic oblique and inequality of lower limbs, and it can be cured with the surgical release of the gluteal muscle contracture by the arc longitudinal incision into the posterolateral area nearby the greater trochanter, combined with postoperative skin traction and

Radiotherapy in early stage dupuytren's contracture

International Nuclear Information System (INIS)

Adamietz, B.; Sauer, R.; Gruenert, J.

2001-01-01

Purpose: In early stage Dupuytren's contracture radiotherapy was applied to prevent disease progression. Long-term results and late toxicity of this treatment were evaluated in a retrospective analysis. Patients and Methods: Between 1982 and 1994, 99 patients (176 hands) received orthovoltage radiotherapy, which consisted of two courses with 5 x 3 Gy (total dose: 30 Gy, daily fractionated; 120 kV, 4 mm Al), separated by a 6 to 8-week pause. The Dupuytren's contracture was staged according to the classification of Tubiana et al. The long-term outcome was analyzed at last follow-up between July and November 1999. The median follow-up was 10 years (range 7-18 years). Late toxicity was assessed using the LENT-SOMA criteria. Results: In Stage N 84% and Stage N/I 67% of cases remained stable. 65% of the cases in Stage I and 83% in Stage II showed progressive nodules and cords. In case of progression we saw no complications after a second radiotherapy or salvage operation. Conclusion: Radiotherapy effectively prevents disease progression for early stage Dupuytren's contracture (Stage N, N/I). Moreover, in case of disease progression despite radiotherapy salvage surgery is still feasible. (orig.) [de

Upper limb congenital muscular hypertrophy and aberrant muscle syndrome in children.

Science.gov (United States)

Dahan, Emmanuel; Chaves, Camilo; Bachy, Manon; Fitoussi, Frank

2018-01-01

Congenital muscle hypertrophy of the upper limb is a very rare condition with unknown aetiology. This descriptive observational and retrospective series included eight children followed by a multidisciplinary team from 2005 to 2017. The diagnosis was based on a cluster of clinical and radiological characteristics after elimination of differential diagnoses. Patients were categorized according to: anomalies of the wrist, anomalies of long fingers of intrinsic or extrinsic origin; and anomalies of the thumb with or without first web space contracture. Treatment begins in young children with hand orthoses to limit muscle contraction and joint malposition. The purpose of surgical treatment was to release contractures and to restore muscle balance through, in the main, finger intrinsic releases and first web releases. At the 2-year follow-up, we found that limited surgical procedures improved finger, thumb and wrist positions. We conclude that muscle hypertrophy is the main cause of deformity and that selective releases of contracted musculo-tendinous units and skin lengthening are effective. IV.

Multiple collagenase injections are safe for treatment of Dupuytren's contractures.

Science.gov (United States)

Gajendran, Varun K; Hentz, Vincent; Kenney, Deborah; Curtin, Catherine M

2014-07-01

The authors report the case of a 65-year-old, right-hand-dominant man who had severe Dupuytren's disease with multiple cords and flexion contractures of the metacarpophalangeal and proximal interphalangeal joints of both hands and underwent repeated collagenase injections for treatment. Collagenase has been shown to be safe and effective in the treatment of Dupuytren's contractures when administered as a single dose, but the results of multiple injections over a prolonged period are unknown. Antibodies to collagenase develop in all patients after several treatments, raising concerns about safety and efficacy as a result of sensitization from repeated exposures. The antibodies generated as a result of repeated exposure to collagenase could theoretically render it less effective with time and could also lead to immune reactions as severe as anaphylaxis. The authors present the case of a single patient who experienced continued correction of his contractures with only minor and self-limited adverse reactions after administration of 12 collagenase doses through 15 injections during a 4-year period. Over time, the injections continued to be effective at correcting metacarpophalangeal joint contractures, but less effective at correcting proximal interphalangeal joint contractures. The patient did eventually require a fasciectomy, but the safety and modest success of the repeated collagenase injections shows promise for a less invasive treatment with a better risk profile than open fasciectomy. Although further studies are needed, repeated administration of collagenase appears to be safe and modestly effective for severe Dupuytren's contractures, although a fasciectomy may ultimately be required in the most severe cases. Copyright 2014, SLACK Incorporated.

Z-plasty for severe gluteal muscle contracture in children.

Science.gov (United States)

Zha, Kun; Liu, GuoHui; Yang, Shuhua; Cao, Faqi

2016-12-01

To review the records of 363 patients with severe gluteal muscle contracture to determine its mechanism, underlying pathology, and treatment outcome. Records of 136 males and 227 females aged 5 to 18 (mean, 12.2) years who underwent Z-plasty for bilateral (n=347) or unilateral (n=16) severe gluteal muscle contracture were reviewed. Severe gluteal muscle contracture was classified as typical (n=52) or special (n=311). The typical type is associated with symptoms of positive out-toe gait, Ober sign, back-extending test, cross-leg test, squatting with knee side-by-side test, and hip dysfunction. It is further subdivided into mild (n=0), moderate (n=40), or severe (n=12). The special type is associated with additional symptoms of pelvic tilt and leg length discrepancy (4 cm in 48 hips). 311 hips had pelvic tilt and 47 hips had lumbar compensatory scoliosis. Treatment outcome was assessed at 6 months. Hip functional score was assessed at the final follow-up. The mean hospitalisation period was 11 days. After a mean follow-up of 1.5 years, the mean hip functional score improved from 8.03 to 11.69; improvement was higher in children (age 5-13 years) than in adolescents (age 14-18 years) [3.7 vs. 2.9, p4 cm, and intra-operatively the contracture band severely affected the joint capsule. The third patient did not comply with postoperative exercises. Surgical treatment for severe gluteal muscle contracture achieved good outcome.

Factors associated with upper extremity contractures after cervical spinal cord injury: A pilot study.

Science.gov (United States)

Hardwick, Dustin; Bryden, Anne; Kubec, Gina; Kilgore, Kevin

2018-05-01

To examine the prevalence of joint contractures in the upper limb and association with voluntary strength, innervation status, functional status, and demographics in a convenience sample of individuals with cervical spinal cord injury to inform future prospective studies. Cross-sectional convenience sampled pilot study. Department of Veterans Affairs Research Laboratory. Thirty-eight participants with cervical level spinal cord injury. Not applicable. Contractures were measured with goniometric passive range of motion. Every joint in the upper extremity was evaluated bilaterally. Muscle strength was measured with manual muscle testing. Innervation status was determined clinically with surface electrical stimulation. Functional independence was measured with the Spinal Cord Independence Measure III (SCIM-III). Every participant tested had multiple joints with contractures and, on average, participants were unable to achieve the normative values of passive movement in 52% of the joints tested. Contractures were most common in the shoulder and hand. There was a weak negative relationship between percentage of contractures and time post-injury and a moderate positive relationship between percentage of contractures and age. There was a strong negative correlation between SCIM-III score and percentage of contractures. Joint contractures were noted in over half of the joints tested. These joint contractures were associated with decreased functional ability as measured by the SCIM-III. This highlights the need the need for detailed evaluation of the arm and hand early after injury as well as continued monitoring of joint characteristics throughout the life course of the individual with tetraplegia.

Perineal burn contractures: An experience in tertiary hospital of a Himalayan state

Directory of Open Access Journals (Sweden)

Thakur Jagdeep

2008-01-01

Full Text Available Perineal burn contracture is a rare burn sequel. We conducted a retrospective analysis of cases with perineal burn contractures managed in a tertiary care centre of a Himalayan state. We found that all cases sustained burn injury from burning firewood and the time of presentation was two to six years after the burn injury. We analyzed our treatment method and have classified these contractures into two types.

Static Progressive Orthoses for Elbow Contracture: A Systematic Review

Directory of Open Access Journals (Sweden)

Bin Chen

2017-01-01

Full Text Available Background. As one of the most common musculoskeletal complications following trauma, elbow contracture is a frequent source of disabled daily activities. Conventional interventions are inadequate to provide favorable outcome. The static progressive orthoses are getting popular in the treatment of this problem. Objective. The purpose of this review was to assess the effectiveness of static progressive orthoses for elbow contracture. Methods. Literatures when written in English published during 1 January 1997 and 31 January 2017 were searched in the following databases: Web of Science, Cochrane Library, PubMed, and EBSCOhost. Articles are quality-assessed by two assessors, each article was summarized in evidence tables, and a narrative synthesis was also performed. Results. Ten clinical trials were included. The study design and outcome measures used varied. Significant immediate improvement in the range of motion was reported by all studies, and those effects were still significant at follow-up. No significant difference was shown between static progressive and dynamic orthoses for elbow contracture in one randomized control trial. Conclusions. Current low-quality evidence suggested that static progressive orthoses provided assistance for elbow contracture through improving range of motion. Further research is recommended using high-quality randomized controlled trials.

Genetics Home Reference: Dupuytren contracture

Science.gov (United States)

... contract. The increased number of myofibroblasts in this disorder cause abnormal contraction of the fascia and produce excess amounts ... protein called type III collagen. The combination of abnormal contraction and excess type III ... risk factors for developing Dupuytren contracture may ...

Gluteal muscle fibrosis with abduction contracture of the hip.

Science.gov (United States)

Al Bayati, Mohammed Ali; Kraidy, Bakir Kadhum

2016-03-01

Gluteal muscle fibrosis with hip contracture is a rare condition and causes major disability; literature reports are sparse. The aim of this study is to present, for the first time in Iraq and the region, a case series of gluteal fibrosis and the results of surgical treatment. Seven children--six boys and one girl--diagnosed as having gluteal muscle fibrosis with hip contracture, were investigated and treated by open surgical release of fibrotic bands and physiotherapy. All patients improved dramatically over the subsequent weeks, and were able to sit and squat in the normal position. Gluteal muscle fibrosis with hip contracture is present in Iraq and more awareness is needed for early diagnosis. Surgical treatment provided excellent results. More studies are needed to delineate the aetiology of the condition.

Angioleiomyoma: A Rare Cause of Fixed Flexion Contracture of the Elbow

Directory of Open Access Journals (Sweden)

Asterios Dramis

2006-01-01

Full Text Available We describe an unusual case of a patient presented with a painless fixed flexion contracture of the elbow due to an angioleiomyoma. This benign smooth muscle tumour should be considered in the differential diagnosis of flexion contractures of the elbow.

Is ankle contracture after stroke due to abnormal intermuscular force transmission?

Science.gov (United States)

Diong, Joanna; Herbert, Robert D

2015-02-01

Contracture after stroke could be due to abnormal mechanical interactions between muscles. This study examined if ankle plantarflexor muscle contracture after stroke is due to abnormal force transmission between the gastrocnemius and soleus muscles. Muscle fascicle lengths were measured from ultrasound images of soleus muscles in five subjects with stroke and ankle contracture and six able-bodied subjects. Changes in soleus fascicle length or pennation during passive knee extension at fixed ankle angle were assumed to indicate intermuscular force transmission. Changes in soleus fascicle length or pennation were adjusted for changes in ankle motion. Subjects with stroke had significant ankle contracture. After adjustment for ankle motion, 9 of 11 subjects demonstrated small changes in soleus fascicle length with knee extension, suggestive of intermuscular force transmission. However, the small changes in fascicle length may have been artifacts caused by movement of the ultrasound transducers. There were no systematic differences in change in fascicle length (median between-group difference adjusting for ankle motion = -0.01, 95% CI -0.26-0.08 mm/degree of knee extension) or pennation (-0.05, 95% CI -0.15-0.07 degree/ degree of knee extension). This suggests ankle contractures after stroke were not due to abnormal (systematically increased or decreased) intermuscular force transmission between the gastrocnemius and soleus.

Use of preputial skin for coverage of post-burn contractures of fingers in children

Directory of Open Access Journals (Sweden)

Mohammed I Zaroo

2011-01-01

Full Text Available Objective: Hand burns are common injuries. Children frequently sustain burn injuries, especially to their hands. Contractures are a common sequel of severe burns around joints. The prepuce, or foreskin, has been used as a skin graft for a number of indications. We conducted this study to evaluate the feasibility of utilising the preputial skin for the management of post-burn contractures of fingers in uncircumcised male children. Materials and Methods: Preputial skin was used for the coverage of released contractures of fingers in 12 patients aged 2-6 years. The aetiology of burns was "Kangri" burn in eight patients and scalding in four patients. Six patients had contracture in two fingers, four patients in one finger, and two patients had contractures in three fingers. Results: None of the patients had graft loss, and all the wounds healed within 2 weeks. All patients had complete release of contractures without any recurrence. Hyperpigmentation of the grafts was observed over a period of time, which was well accepted by the parents. Conclusions: Preputial skin can be used successfully for male children with mild-to-moderate contractures of 2-3 fingers for restoration of the hand function, minimal donor site morbidity.

Are mechanically sensitive regulators involved in the function and (patho)physiology of cerebral palsy-related contractures?

DEFF Research Database (Denmark)

Pingel, Jessica; Suhr, Frank

2017-01-01

mechanosensing and metabolism cause and contribute to many diseases, i.e. muscular dystrophies/myopathies, cardiovascular diseases, COPD or diabetes mellitus type 2. A less commonly focused muscle-related disorder is clinically known as muscle contractures that derive from cerebral palsy (CP) conditions in young...... role in CP-related contractures. The aims of this review are (1) to summarize CP-related contracture mechanisms, (2) to raise novel hypotheses on the genesis of contractures with a focus on Cstms, and (3) to stimulate novel approaches to study CP-related contractures....

[Etiological analysis and significance of anterior knee pain induced by gluteal muscles contracture].

Science.gov (United States)

Zhao, Gang; Liu, Yu-jie; Wang, Jun-liang; Qi, Wei; Qu, Feng; Yuan, Bang-tuo; Wang, Jiang-tao; Shen, Xue-zhen; Liu, Yang; Zhu, Juan-li

2014-12-01

To explore causes of gluteal muscle contracture induced anterior knee pain and curative effect of arthroscopic release. From March 2002 to August 2013,36 patients with gluteal muscle contracture induced anterior knee pain were treated, including 15 males, 21 females, aged from 9 to 40 years old with an average (18.7±7.2) years old; the courses of diseases ranged from 4 to 30 years. The clinical manifestations involved limited to symmelia, positive Ober sign, buttocks touch contracture belts, knee and patella slide to lateral when doing squat activities. All patients were performed gluteal muscle contracture release under arthroscopic. Postoperative complications were observed, Kujala scoring before and after operation was used for compare curative effect. All patients were followed up with an average of 29 months. The incision were healed well, and no complications were occurred. Postoperative Kujala score were improved more than preoperative. Gluteal muscle contracture release could alleviate hypertension of lateral patella, and palys an important role in preventing patellofemoral arthritis.

[Advances in the research of prevention and treatment of postburn contractures of hand].

Science.gov (United States)

Wang, K A; Wu, G S; Sun, Y; Xia, Z F

2017-01-20

Scar contracture deformity, which can lead to dysfunction of hand and low quality of life, is one of the common complication after hand burns. The prevention measures of scar contracture after hand burns include large skin grafting, prevention of infection, insistence on wearing pressure gloves, use of silicone sheets, wearing orthosis, accepting proper physical therapy, and early functional exercise. The primary treatments of postburn contractures of the hand are surgery, drugs, laser treatment, and rehabilitation therapy. Excision of scars, release of muscle, joints or bones, and soft tissue transplantation are the core of surgery. Laser treatment has a bright future but still needs to be further studied. Additionally, some novel treatments such as molecular targeted therapy, cell therapy, fat injection, and botulinum toxin injection will play important roles in prevention and treatment of postburn contractures in the future. The purpose of this article is to review the literature concerning postburn contractures of the hand, and summarize the present situation of prevention and treatment of such disease comprehensively.

Impaired growth of denervated muscle contributes to contracture formation following neonatal brachial plexus injury.

Science.gov (United States)

Nikolaou, Sia; Peterson, Elizabeth; Kim, Annie; Wylie, Christopher; Cornwall, Roger

2011-03-02

The etiology of shoulder and elbow contractures following neonatal brachial plexus injury is incompletely understood. With use of a mouse model, the current study tests the novel hypothesis that reduced growth of denervated muscle contributes to contractures following neonatal brachial plexus injury. Unilateral brachial plexus injuries were created in neonatal mice by supraclavicular C5-C6 nerve root excision. Shoulder and elbow range of motion was measured four weeks after injury. Fibrosis, cross-sectional area, and functional length of the biceps, brachialis, and subscapularis muscles were measured over four weeks following injury. Muscle satellite cells were cultured from denervated and control biceps muscles to assess myogenic capability. In a comparison group, shoulder motion and subscapularis length were assessed following surgical excision of external rotator muscles. Shoulder internal rotation and elbow flexion contractures developed on the involved side within four weeks following brachial plexus injury. Excision of the biceps and brachialis muscles relieved the elbow flexion contractures. The biceps muscles were histologically fibrotic, whereas fatty infiltration predominated in the brachialis and rotator cuff muscles. The biceps and brachialis muscles displayed reduced cross-sectional and longitudinal growth compared with the contralateral muscles. The upper subscapularis muscle similarly displayed reduced longitudinal growth, with the subscapularis shortening correlating with internal rotation contracture. However, excision of the external rotators without brachial plexus injury caused no contractures or subscapularis shortening. Myogenically capable satellite cells were present in denervated biceps muscles despite impaired muscle growth in vivo. Injury of the upper trunk of the brachial plexus leads to impaired growth of the biceps and brachialis muscles, which are responsible for elbow flexion contractures, and impaired growth of the subscapularis

Are mechanically sensitive regulators involved in the function and (patho)physiology of cerebral palsy-related contractures?

Science.gov (United States)

Pingel, Jessica; Suhr, Frank

2017-08-01

Skeletal muscle tissue is mechanosensitive, as it is able to sense mechanical impacts and to translate these into biochemical signals making the tissue adapt. Among its mechanosensitive nature, skeletal muscle tissue is the largest metabolic organ of the human body. Disturbances in skeletal muscle mechanosensing and metabolism cause and contribute to many diseases, i.e. muscular dystrophies/myopathies, cardiovascular diseases, COPD or diabetes mellitus type 2. A less commonly focused muscle-related disorder is clinically known as muscle contractures that derive from cerebral palsy (CP) conditions in young and adults. Muscle contractures are characterized by gradually increasing passive muscle stiffness resulting in complete fixation of joints. Different mechanisms have been identified in CP-related contractures, i.e. altered calcium handling, altered metabolism or altered titin regulation. The muscle-related extracellular matrix (ECM), specifically collagens, plays a role in CP-related contractures. Herein, we focus on mechanically sensitive complexes, known as costameres (Cstms), and discuss their potential role in CP-related contractures. We extend our discussion to the ECM due to the limited knowledge of its role in CP-related contractures. The aims of this review are (1) to summarize CP-related contracture mechanisms, (2) to raise novel hypotheses on the genesis of contractures with a focus on Cstms, and (3) to stimulate novel approaches to study CP-related contractures.

NEUROORTHOPEDICAL APPROACH TO THE CORRECTION OF EQUINES CONTRACTURE IN PATIENTS WITH SPASTIC PARALYSIS

Directory of Open Access Journals (Sweden)

Valery Vladimirovich Umnov

2014-03-01

Full Text Available The frequency of recurrent contractures of the joints of the lower limb after their correction by means of tendon-muscle plasty remains significant. Therefore, the search for effective ways to correct contractures with the most resistant long-term result is relevant. The objective of the study is to improve treatment outcomes of equinus contracture in children with spastic paralysis. Materials and methods. We analyzed the results of correction of contractures in joints of lower limbs in 40 patients with cerebral palsy and the influence of spasticity of patognomonic muscles on them. The mean age was 6 years 7 months. In addition, for the correction of hypertonus of triceps muscle of tibia, the 330 lower limb segments were performed selective neurotomy of appropriate motor branches of the general tibial nerve. This operation in 304 cases was combined with achilloplastics or Strayer operation. Results. A mean degree of correlation between the degree of contracture in the ankle and increased tone of triceps tibia was determined (r value ranged from 0.451 to 0.487. Short-term results of the combined neuroorthopedic method for correction of contractures were good in estimating within 1 year post surgery, but a study of its short-run effect requires long-term follow-up.

Prevalence of joint contractures and muscle weakness in people with multiple sclerosis.

Science.gov (United States)

Hoang, Phu Dinh; Gandevia, Simon C; Herbert, Robert D

2014-01-01

To investigate the prevalence of joint contracture (limited passive range of joint motion) and muscle weakness in a population with multiple sclerosis (MS). A secondary aim was to establish normative data of functional tests of mobility and balance of people with MS who are still ambulant. Cross-sectional study. People with MS living in metropolitan Sydney, Australia. 330 people with MS living in metropolitan Sydney, Australia were randomly sampled on 23 July 2009 from the MS Australia register and invited to participate. Passive range of motion of large joints of the limbs and muscle strength. Tests of walking and balance were also conducted. 156 people (109 females, 47 males; mean age 54.2 years; mean time since diagnosis 14.9 years) agreed to participate and were assessed. Fifty-six per cent (56%) of participants had contracture in at least one major joint of upper or lower limb. The most common site of contracture was the ankle (43.9%). Seventy per cent (70%) of participants had muscle weakness in one or more muscle groups. As muscle weakness, joint contractures were present at early stage of MS and the prevalence was associated with the progression of the disease. These data show that in addition to muscle weakness joint contractures are highly prevalent among people with MS, especially in the ankle joint. This implicates that prevention of contracture is crucial in providing rehabilitation to people with MS.

Aberrant femoral torsion presenting with frog-leg squatting mimicking gluteal muscle contracture.

Science.gov (United States)

Chiang, Chia-Ling; Tsai, Meng-Yuan; Chang, Wei-Ning; Chen, Clement Kuen-Huang

2012-04-01

Patients with frog-leg squatting have restricted internal rotation and adduction of the affected hips during sitting or squatting. In the surgical literature, the cause generally has been presumed to arise from and be pathognomonic for gluteal muscle contracture. However, we have encountered patients with frog-leg squatting but without gluteal muscle contracture. We therefore raised the following questions: What are the imaging features of patients with frog-leg squatting? Do conditions other than gluteal muscle contracture manifest frog-leg squatting? We retrospectively reviewed the MR images of 67 patients presenting with frog-leg squatting from April 1998 to July 2010. There were four females and 63 males; their mean age was 22.2 years (range, 4-50 years). During MRI readout, we observed aberrant axes of some femoral necks and obtained additional CT to measure femoral torsion angles in 59 of the 67 patients. MR images of 27 (40%) patients had signs of gluteal muscle contracture. Twenty-two (33%) patients (40 femora) had aberrant femoral torsion, including diminished anteversion (range, 6°-0°; average, 3.9°) in 11 femora of eight patients and femoral retroversion (range, muscle contracture or aberrant femoral torsion. The observation of aberrant femoral torsion was not anticipated before imaging studies. In addition to gluteal muscle contracture, aberrant femoral torsion can be a cause of frog-leg squatting. Level II, diagnostic study. See the guidelines for Authors for a complete description of levels of evidence.

Minimally invasive soft tissue release of foot and ankle contracture secondary to stroke.

Science.gov (United States)

Boffeli, Troy J; Collier, Rachel C

2014-01-01

Lower extremity contracture associated with stroke commonly results in a nonreducible, spastic equinovarus deformity of the foot and ankle. Rigid contracture deformity leads to gait instability, pain, bracing difficulties, and ulcerations. The classic surgical approach for stroke-related contracture of the foot and ankle has been combinations of tendon lengthening, tendon transfer, osteotomy, and joint fusion procedures. Recovery after traditional foot and ankle reconstructive surgery requires a period of non-weightbearing that is not typically practical for these patients. Little focus has been given in published studies on minimally invasive soft tissue release of contracture. We present the case of a 61-year-old female with an equinovarus foot contracture deformity secondary to stroke. The patient underwent Achilles tendon lengthening, posterior tibial tendon Z lengthening, and digital flexor tenotomy of each toe with immediate weightbearing in a walking boot, followed by transition to an ankle-foot orthosis. The surgical principles and technique tips are presented to demonstrate our minimally invasive approach to release of foot and ankle contracture secondary to stroke. The main goal of this approach is to improve foot and ankle alignment for ease of bracing, which, in turn, will improve gait, reduce the risk of falls, decrease pain, and avoid the development of pressure sores. Copyright © 2014 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

Genetics Home Reference: hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis

Science.gov (United States)

... Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis Printable PDF Open All Close All Enable Javascript ... Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary ... Lung, and Blood Institute (NHLBI): Pulmonary Function Tests National ...

Recovery of Action Potentials and Twitches after K-contractures in Frog Skeletal Muscle(Physiology)

OpenAIRE

Atsuko, Suzuki; Ibuki, Shirakawa; Kazunari, Noguchi; Hirohiko, Kishi; Haruo, Sugi; Department of Physiology, School of Medicine, Teikyo University:(Present office)Department of Physical Therapy, Health Science University; Department of Physiology, School of Medicine, Teikyo University; Department of Physiology, School of Medicine, Teikyo University; Department of Physiology, School of Medicine, Teikyo University; Department of Physiology, School of Medicine, Teikyo University

2004-01-01

To give information about intracellular Ca^ translocation during and after K-contractures in vertebrate skeletal muscle fibers, we examined recovery of action potentials and twitches after interruption and spontaneous relaxation of K-contractures at low temperature (3℃) that greatly reduced the rate of Ca^ reuptake by the sarcoplasmic reticulum. On membrane repolarization interrupting K-contractures, the amplitude of both action potentials and twitches recovered quickly, while the falling pha...

Unilateral Congenital Knee and Hip Dislocation with Bilateral Clubfoot – A rare Packaging disorder

Directory of Open Access Journals (Sweden)

Mukesh Tiwari

2013-04-01

Full Text Available ntroduction: Reduced intrauterine space gives rise to ‘packaging disorder’ which may involve joint dislocations or contractures. We present an unique case where mutiple joints were dislocated involving left congenital knee dislocation (CDK, bilateral congenital hip dislocation (CDH and congenital talipes equino varus (CTEVdeformities. Case Report: A preterm baby boy born to mother with diagnosed oligohydramios presented with left CDK bilateral DDH and CTEV. The knee dislocation was treated first with gradual streaching and weekly above knee cast. At 7th week good flexion was achieved at both knees and abduction splint for DDH (using double diaper with ponseti cast for CTEV was done. At one year follow up all joints were reduced and maintained well with baby able to stand with support. Conclusion: Packaging disorders may present with multiple dislocations and deformities. Early intervention with serial casting and manipulation minimises disability and prevents ambulatory problems. In our case there was a good response to manipulation and serial casting. This differs from cases with inherent pathology like arthrogryposis where response to treatment is not so good. Keywords: Congenital genu recurvatum, Develpmental dysplasia hip, CTEV, Clubfoot, serial manipulation, packaging disorders

Flexor origin slide for contracture of spastic finger flexor muscles: a retrospective study.

Science.gov (United States)

Thevenin-Lemoine, Camille; Denormandie, Philippe; Schnitzler, Alexis; Lautridou, Christine; Allieu, Yves; Genêt, François

2013-03-06

Contracture of the wrist and extrinsic finger flexor and pronator muscles is a common consequence of central nervous system disorders. The proximal release of the extrinsic flexor and pronator muscles was first described by Page and Scaglietti for a Volkmann contracture. The aim of the present study was to assess the amount of increase in extension and the improvements in global hand function that can be expected following this lengthening procedure in patients with central nervous system disorders. A single-center retrospective review of patients with central nervous system lesions and contractures of the wrist and extrinsic finger flexor and forearm pronator muscles, causing aesthetic, hygienic, or functional impairment, was carried out. The Page-Scaglietti technique was used for all interventions. Before the operation, motor nerve blocks were used to distinguish between spasticity and contractures with surgical intervention only for contractures. The Zancolli and House classifications were used to evaluate improvements. Data from fifty-four hands and fifty patients (thirty-five men and fifteen women) were evaluated. The mean duration of follow-up (and standard deviation) was 26 ± 21 months (range, three to 124 months). The mean gain (and standard deviation) in wrist extension with fingers extended was 67° ± 25° (range, -10° to 110°). Preoperatively, no hands were classified as Zancolli Group 1, whereas twenty-five hands were classified as Zancolli Group 1 at the latest follow-up review. Ten nonfunctional hands (rated as House Group 0 or Group 1) became functional as a supporting hand postoperatively. Zancolli and House classifications increased significantly (p contracture of the intrinsic muscles, which required further intervention. The Page-Scaglietti technique appears to improve range of motion and function in people with wrist and finger contractures due to central nervous system disorders.

Contracture Coupling of Slow Striated Muscle in Non-Ionic Solutions and Replacement of Calcium, Sodium, and Potassium

Science.gov (United States)

Irwin, Richard L.; Hein, Manfred M.

1964-01-01

The development of contracture related to changes of ionic environment (ionic contracture coupling) has been studied in the slowly responding fibers of frog skeletal muscle. When deprived of external ions for 30 minutes by use of solutions of sucrose, mannitol, or glucose, the slow skeletal muscle fibers, but not the fast, develop pronounced and easily reversible contractures. Partial replacement of the non-ionic substance with calcium or sodium reduces the development of the contractures but replacement by potassium does not. The concentration of calcium necessary to prevent contracture induced by a non-ionic solution is greater than that needed to maintain relaxation in ionic solutions. To suppress the non-ionic-induced contractures to the same extent as does calcium requires several fold higher concentrations of sodium. Two types of ionic contracture coupling occur in slow type striated muscle fibers: (a) a calcium deprivation type which develops maximally at full physiological concentration of external sodium, shows a flow rate dependency for the calcium-depriving fluid, and is lessened when the sodium concentration is decreased by replacement with sucrose; (b) a sodium deprivation type which occurs maximally without external sodium, is lessened by increasing the sodium concentration, and has no flow rate dependency for ion deprivation. Both types of contracture are largely prevented by the presence of sufficient calcium. There thus seem to be calcium- and sodium-linked processes at work in the ionic contracture coupling of slow striated muscle. PMID:14127603

Capsular contracture and possible implant rupture: is magnetic resonance imaging useful?

Science.gov (United States)

Paetau, Alyssa A; McLaughlin, Sarah A; McNeil, Rebecca B; Sternberg, Erez; TerKonda, Sarvam P; Waldorf, James C; Perdikis, Galen

2010-03-01

Currently, magnetic resonance imaging is considered the accepted standard to evaluate breast implant integrity. To evaluate its utility in diagnosing ruptured silicone implants in the setting of capsular contracture and to correlate the preoperative assessment of implant integrity with or without magnetic resonance imaging with operative findings, 319 capsulectomies (171 patients with capsular contractures) were retrospectively reviewed. Preoperative magnetic resonance imaging was done on 160 implants, whereas the remaining 159 were evaluated using only physical examination and/or mammography. Postoperative results were analyzed to determine the sensitivity, specificity, and accuracy of preoperative magnetic resonance imaging in comparison with clinical and/or mammography evaluation alone. Although occasionally valuable, overall, preoperative magnetic resonance imaging was no more accurate than clinical evaluation with or without mammography in predicting implant status: magnetic resonance imaging 124 of 160 (78 percent) and clinical 121 of 159 (76 percent; p = 0.77). In the setting of capsular contracture, physical examination with or without mammogram is as accurate as magnetic resonance imaging in determining implant integrity. Although magnetic resonance imaging is a sensitive diagnostic tool, in symptomatic patients with capsular contracture, it cannot be viewed as infallible.

Free groin flap for recurrent severe contractures of the neck in children

Science.gov (United States)

Ghosh, Abhishek; Jayakumar, R.

2010-01-01

Context: Severe post burns contracture in children not only leads to functional impairment but also has profound psychological impact on the child. Untreated neck contractures have been shown to inhibit mandibular growth. Skin grafting in children has a higher rate of recurrence and in these cases a thin pliable flap seems to provide a durable solution. Aim: To study the feasibility of using primarily thinned free groin flap in the treatment of recurrent neck contractures in children. Materials and Methods: Five patients, in the age group of 5–10 years, with recurrent neck contractures and operated between 2005 and 2008 were included in this study. The sternomental distance, lateral flexion angle and cervicomental angle were measured preoperatively, postoperatively and during the subsequent follow-up visits. The patients were followed up for a period between 1 and 3 years with a mean of 29 months. Results: All the flaps survived. The cervicomental angle improved significantly to 90–105°, the lateral flexion angle improved to 35–45° and the sternomental distance increased considerably. Conclusions: Recurrent post burns contracture of the neck in children causes not only functional and aesthetic impairment but also psychological problems. A free microthinned groin flap provides a very attractive solution for this problem and should be seen as an effective alternative in recurrent cases. PMID:21321662

Free groin flap for recurrent severe contractures of the neck in children

Directory of Open Access Journals (Sweden)

Ghosh Abhishek

2010-10-01

Full Text Available Context: Severe post burns contracture in children not only leads to functional impairment but also has profound psychological impact on the child. Untreated neck contractures have been shown to inhibit mandibular growth. Skin grafting in children has a higher rate of recurrence and in these cases a thin pliable flap seems to provide a durable solution. Aim : To study the feasibility of using primarily thinned free groin flap in the treatment of recurrent neck contractures in children. Materials and Methods: Five patients, in the age group of 5-10 years, with recurrent neck contractures and operated between 2005 and 2008 were included in this study. The sternomental distance, lateral flexion angle and cervicomental angle were measured preoperatively, postoperatively and during the subsequent follow-up visits. The patients were followed up for a period between 1 and 3 years with a mean of 29 months. Results: All the flaps survived. The cervicomental angle improved significantly to 90-105°, the lateral flexion angle improved to 35-45° and the sternomental distance increased considerably. Conclusions: Recurrent post burns contracture of the neck in children causes not only functional and aesthetic impairment but also psychological problems. A free micro-thinned groin flap provides a very attractive solution for this problem and should be seen as an effective alternative in recurrent cases.

Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

LENUS (Irish Health Repository)

Dempsey, M A

2010-03-01

An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

Acquired muscle contractures in the dog and cat. A review of the literature and case report.

Science.gov (United States)

Taylor, J; Tangner, C H

2007-01-01

Canine and feline muscle contracture is reported to affect several different muscles, is associated with a number of predisposing factors, and a varying prognosis depending upon which muscle is affected. Most patients suffer some form of trauma weeks to months before the contracture is present. The clinical signs include: lameness, pain, weakness, decreased range of motion, a firmness noted throughout the entire muscle, and usually a characteristic gait. Pre-disposing factors for muscle contracture include: compartment syndrome, infection, trauma, repetitive strains, fractures, infectious diseases, immune-mediated diseases, neoplasia, and ischaemia. There does appear to be some breed and age predilection, however, the sex of the animal does not have an appreciable influence. In general, muscle contractures of the forelimb respond better to treatment and carry a better prognosis than muscle contractures of the hindlimb.

Cyclooxygenase-2 inhibitor celecoxib attenuates joint contracture following immobilization in rat knees.

Science.gov (United States)

Ozawa, Junya; Kaneguchi, Akinori; Tanaka, Ryo; Kito, Nobuhiro; Moriyama, Hideki

2016-10-24

The aim of this study is to clarify the following two points: First, whether a cyclooxygenase-2 mediated pathway is involved in the formation of immobilization-induced joint contracture and, second, the effectiveness of oral administration of non-steroidal anti-inflammatory drug celecoxib (CBX) for the prevention of myogenic and arthrogenic contracture following immobilization in a rat model. Thirty male rats were randomly divided into three groups: immobilization (Im), Im + CBX, and control (n = 10 each). External fixation immobilized the right knee joint of Im and Im + CBX groups in flexion for 3 weeks. 50 mg/kg of CBX was administrated daily to the Im + CBX group during this period. The passive range of motion (ROM) of knee joints was measured before and after transection of knee flexor muscles and myogenic and arthrogenic ROM restrictions were calculated. The semitendinosus muscles and knee joints were investigated histologically to elucidate factors responsible for contracture. Myogenic ROM restrictions were exhibited both in Im and Im + CBX groups (44 ± 5 and 36 ± 8 °, respectively), but restrictions significantly decreased in the Im + CBX group compared to the Im group. Significant reductions of the muscle length ratios (Rt/Lt) and sarcomere number ratios (Rt/Lt) in knee flexor semitendinosus muscle, which are responsible for myogenic contracture, were also seen both in Im group (92 ± 5 and 92 ± 4 %, respectively) and Im + CBX group (97 ± 3 and 97 ± 3 %, respectively), but were inhibited by CBX administration (P muscle shortening following immobilization. These results imply that inflammation and nociception are involved in myogenic contracture formation independently of joint immobilization, and that CBX is effective in preventing joint contracture following immobilization in rats.

Prevalence of functioning and disability in older patients with joint contractures: a cross-sectional study.

Science.gov (United States)

Fischer, U; Müller, M; Strobl, R; Bartoszek, G; Meyer, G; Grill, E

2015-06-01

Joint contractures are a common problem for older, frail people, particularly in rehabilitation, nursing home and homecare settings. Joint contractures are underreported and sparsely empirically investigated despite their high prevalence. The objective of this study was to examine the prevalence of functional impairments, activity limitations and participation restrictions of patients with joint contractures using the International Classification of Functioning, Disability and Health (ICF) as a framework. We also examined contextual factors as potential mediators for functioning and disability. Cross-sectional study- Three acute-geriatric hospitals in and around Munich (Germany). Patients aged 65 and over with confirmed joint contractures requiring rehabilitation care. The patients were asked to answer a questionnaire that comprised 124 categories of the ICF. Patients' problems in functioning were registered separately for each category. Data were collected through face-to-face interviews with patients and health professionals and from patients' medical records. One hundred and fifty patients were eligible and agreed to participate. Mean age was 82.5 years (SD: 7.4), 64.8% of the patients were female. Problems in "muscle power functions" (95.9%) and "driving human-powered transportation" (89,6%) were those most frequently identified. 'Health services, systems and policies' (98,6%) was the most frequent environmental facilitator. Aged persons with joint contractures experience high levels of disability. Specifically, mobility, participation restrictions and interactions with the environment emerged as important issues of our study. Mobility and support by others were frequently mentioned as aspects relevant for persons with joint contractures. These aspects have to be considered when assessing the impact of joint contractures.

Influence of different degrees of bilateral emulated contractures at the triceps surae on gait kinematics: The difference between gastrocnemius and soleus.

Science.gov (United States)

Attias, M; Bonnefoy-Mazure, A; De Coulon, G; Cheze, L; Armand, S

2017-10-01

Ankle plantarflexion contracture results from a permanent shortening of the muscle-tendon complex. It often leads to gait alterations. The objective of this study was to compare the kinematic adaptations of different degrees of contractures and between isolated bilateral gastrocnemius and soleus emulated contractures using an exoskeleton. Eight combinations of contractures were emulated bilaterally on 10 asymptomatic participants using an exoskeleton that was able to emulate different degrees of contracture of gastrocnemius (biarticular muscle) and soleus (monoarticular muscle), corresponding at 0°, 10°, 20°, and 30° ankle plantarflexion contracture (knee-flexed and knee-extended). Range of motion was limited by ropes attached for soleus on heel and below the knee and for gastrocnemius on heel and above the knee. A gait analysis session was performed to evaluate the effect of these different emulated contractures on the Gait Profile Score, walking speed and gait kinematics. Gastrocnemius and soleus contractures influence gait kinematics, with an increase of the Gait Profile Score. Significant differences were found in the kinematics of the ankles, knees and hips. Contractures of soleus cause a more important decrease in the range of motion at the ankle than the same degree of gastrocnemius contractures. Gastrocnemius contractures cause greater knee flexion (during the stance phase) and hip flexion (during all the gait cycle) than the same level of soleus contractures. These results can support the interpretation of the Clinical Gait Analysis data by providing a better understanding of the effect of isolate contracture of soleus and gastrocnemius on gait kinematics. Copyright © 2017 Elsevier B.V. All rights reserved.

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

Directory of Open Access Journals (Sweden)

Uluç Yis

2016-01-01

Full Text Available Megaconial congenital muscular dystrophy (OMIM 602541 is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK levels, and mild-to-moderate intellectual disability. We report two siblings in a consanguineous family admitted for psychomotor delay. Physical examination revealed proximal muscle weakness, contractures in the knee of elder sibling, diffuse mild generalized muscle atrophy, and dry skin with ichthyosis together with multiple nummular eczema in both siblings. Serum CK values were elevated up to 500 U/L. For genetic work-up, we performed whole exome sequencing (WES after Nimblegen enrichment on the Illumina platform. The WES revealed a novel homozygous missense mutation in the Choline Kinase-Beta (CHKB gene c.1031G>A (p.R344Q in exon 9. Ichthyosis-like skin changes with intense pruritus and nummular eczema may lead to clinical diagnosis in cases with megaconial congenital muscular dystrophy.

PREDICTIVE FACTORS OF DIFFICULT INTUBATION IN POST BURN NECK CONTRACTURE – A STUDY OF 30 CONSECUTIVE CASES

Directory of Open Access Journals (Sweden)

Vijay

2015-06-01

Full Text Available The peri - operative management of post - burn contractures of the neck is a challenge not only to the surgeon but also the anaesthesiologist. A proper co - ordination between them is needed for providing a hassle - free patient care. This is a prospective study done on 30 consecutive patients of post burn contractures of the neck to compare the surgeon’s assessment of the type and pattern of post - burn contracture of the neck and the anaesthesiologist’s assessment of the airway. T he association of this with the peri - operative management of patients was also studied. The data analysed was type of contracture , mento - sternal distance , and preoperative grading of the airway. The method of securing intra - operative airway was documented . A direct co - relation was noted between the type of contracture with the Mallampatti grading of the airway and the sterno - mental distance. All type III contractures required release before intubation. In conclusion , it is advisable for the surgeon to be w ell - versed with the anaesthesiologist’s assessment of the airway and the anaesthesiologist to aware of the types of neck contracture in order to properly plan and execute the peri - operative management of these patients.

Quantitative and temporal differential recovery of articular and muscular limitations of knee joint contractures; results in a rat model.

Science.gov (United States)

Trudel, Guy; Laneuville, Odette; Coletta, Elizabeth; Goudreau, Louis; Uhthoff, Hans K

2014-10-01

Joint contractures alter the mechanical properties of articular and muscular structures. Reversibility of a contracture depends on the restoration of the elasticity of both structures. We determined the differential contribution of articular and muscular structures to knee flexion contractures during spontaneous recovery. Rats (250, divided into 24 groups) had one knee joint surgically fixed in flexion for six different durations, from 1 to 32 wk, creating joint contractures of various severities. After the fixation was removed, the animals were left to spontaneously recover for 1 to 48 wk. After the recovery periods, animals were killed and the knee extension was measured before and after division of the transarticular posterior muscles using a motorized arthrometer. No articular limitation had developed in contracture of recent onset (≤2 wk of fixation, P > 0.05); muscular limitations were responsible for the majority of the contracture (34 ± 8° and 38 ± 6°, respectively; both P contractures of recent onset (1 and 2 wk of fixation, respectively). Long-lasting contractures (≥4 wk of fixation) presented articular limitations, irreversible in all 12 durations of recovery compared with controls (all 12 P contractures of recent onset were primarily due to muscular structures, and they were reversible during spontaneous recovery. Long-lasting contractures were primarily due to articular structures and were irreversible. Comprehensive temporal and quantitative data on the differential reversibility of mechanically significant alterations in articular and muscular structures represent novel evidence on which to base clinical practice. Copyright © 2014 the American Physiological Society.

Degree of Contracture Related to Residual Muscle Shoulder Strength in Children with Obstetric Brachial Plexus Lesions.

Science.gov (United States)

van Gelein Vitringa, Valerie M; van Noort, Arthur; Ritt, Marco J P F; van Royen, Barend J; van der Sluijs, Johannes A

2015-12-01

 Little is known about the relation between residual muscle strength and joint contracture formation in neuromuscular disorders. This study aimed to investigate the relation between residual muscle strength and shoulder joint contractures in children with sequelae of obstetric brachial plexus lesion (OBPL). In OBPL a shoulder joint contracture is a frequent finding. We hypothesize that residual internal and external rotator strength and their balance are related to the extent of shoulder joint contracture.  Clinical assessment was performed in 34 children (mean 10.0 years) with unilateral OBPL and Narakas classes I-III. External and internal rotation strengths were measured with the shoulder in neutral position using a handheld dynamometer. Strength on the affected side was given as percentage of the normal side. Contracture was assessed by passive internal and external rotations in degrees (in 0° abduction). Mallet classification was used for active shoulder function.  External and internal rotation strengths on the affected side were approximately 50% of the normal side and on average both equally affected: 56% (SD 18%) respectively 51% (SD 27%); r  = 0.600, p  = 0.000. Residual strengths were not related to passive internal or external rotation ( p  > 0.200). Internal rotation strength ( r  =  - 0.425, p muscle strength influence contracture formation cannot be confirmed in this study. Our results are of interest for the understanding of contracture formation in OBPL.

Avoiding unfavorable results in postburn contracture hand

Science.gov (United States)

Bhattacharya, Sameek

2013-01-01

Deformities of the hands are a fairly common sequel of burn especially in the developing world. This is because of high incidence of burns, limited access to standard treatment and rehabilitation. The best outcome of a burnt hand is when deformities are prevented from developing. A good functional result is possible when due consideration is paid to hands during resuscitation, excisional surgery, reconstructive surgery and physiotherapy. The post-burns deformities of hand develop due direct thermal damage or secondary to intrinsic minus position due to oedema or vascular insufficiency. During the acute phase the concerns are, maintenance circulation minimize oedema prevent unphysiological positioning and wound closure with autogenous tissue as soon as possible. The rehabilitation program during the acute phase starts from day one and goes on till the hand has healed and has regained full range of motion. Full blown hand contractures are challenging to correct and become more difficult as time passes. Long-standing cases often land up with attenuation of extensor apparatus leading to swan neck and boutonniere deformity, muscle shortening and bony ankylosis. The major and most common pitfall after contracture release is relapse. The treatment protocol of contracture is solely directed towards countering this tendency. This article aims to guide a surgeon in obtaining optimal hand function and avoid pit falls at different stages of management of hand burns. The reasons of an unfavourable outcome of a burnt hand are possible lack of optimal care in the acute phase, while planning and performing reconstructive procedure and during aftercare and rehabilitation. PMID:24501479

Pronation-Supination Motion Is Altered in a Rat Model of Post-Traumatic Elbow Contracture.

Science.gov (United States)

Dunham, Chelsey L; Castile, Ryan M; Chamberlain, Aaron M; Galatz, Leesa M; Lake, Spencer P

2017-07-01

The elbow joint is highly susceptible to joint contracture, and treating elbow contracture is a challenging clinical problem. Previously, we established an animal model to study elbow contracture that exhibited features similar to the human condition including persistent decreased range of motion (ROM) in flexion-extension and increased capsule thickness/adhesions. The objective of this study was to mechanically quantify pronation-supination in different injury models to determine if significant differences compared to control or contralateral persist long-term in our animal elbow contracture model. After surgically inducing soft tissue damage in the elbow, Injury I (anterior capsulotomy) and Injury II (anterior capsulotomy with lateral collateral ligament transection), limbs were immobilized for 6 weeks (immobilization (IM)). Animals were evaluated after the IM period or following an additional 6 weeks of free mobilization (FM). Total ROM for pronation-supination was significantly decreased compared to the uninjured contralateral limb for both IM and FM, although not different from control limbs. Specifically, for both IM and FM, total ROM for Injury I and Injury II was significantly decreased by ∼20% compared to contralateral. Correlations of measurements from flexion-extension and pronation-supination divulged that FM did not affect these motions in the same way, demonstrating that joint motions need to be studied/treated separately. Overall, injured limbs exhibited persistent motion loss in pronation-supination when comparing side-to-side differences, similar to human post-traumatic joint contracture. Future work will use this animal model to study how elbow periarticular soft tissues contribute to contracture.

Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy.

Science.gov (United States)

Eymard, B; Ferreiro, A; Ben Yaou, R; Stojkovic, T

2013-01-01

Muscle diseases may have various clinical manifestations including muscle weakness, atrophy or hypertrophy and joint contractures. A spectrum of non-muscular manifestations (cardiac, respiratory, cutaneous, central and peripheral nervous system) may be associated. Few of these features are specific. Limb joint contractures or spine rigidity, when prevailing over muscle weakness in ambulant patients, are of high diagnostic value for diagnosis orientation. Within this context, among several disorders, four groups of diseases should systematically come to mind including the collagen VI-related myopathies, the Emery-Dreifuss muscular dystrophies, the SEPN1 and FHL1 related myopathies. More rarely other genetic or acquired myopathies may present with marked contractures. Diagnostic work-up should include a comprehensive assessment including family history, neurological, cardiologic and respiratory evaluations. Paraclinical investigations should minimally include muscle imaging and electromyography. Muscle and skin biopsies as well as protein and molecular analyses usually help to reach a precise diagnosis. We will first describe the main muscle and neuromuscular junction diseases where contractures are typically a prominent symptom of high diagnostic value for diagnosis orientation. In the following chapters, we will present clues for the diagnostic strategy and the main measures to be taken when, at the end of the diagnostic work-up, no definite muscular disease has been identified. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Long-Term Resolution of Severe Ankle Contractures Using Botulinum Toxin, Serial Casting, Splinting, and Motor Retraining.

Science.gov (United States)

Leung, Joan; Stroud, Katarina

2018-01-01

Purpose: Serial casting for ankle contractures is traditionally performed in prone, a position that patients may not easily tolerate. Also, although serial casting is effective in correcting contracture, its effect dissipates quickly. This case report describes a procedure for performing casting for ankle contractures in a supine or sitting position. It also describes a process that enables the effect of serial casting to be maintained long term. Client Description: The client was an adult who had suffered traumatic brain injury and severe bilateral ankle contractures. Intervention: He received botulinum toxin and serial casting for his bilateral ankle contractures, one ankle at 8 months and the other at 13 months after the injury. He then underwent a programme of splinting and motor training. Measures and Outcome: The client gained more than 40° dorsiflexion for both ankles after receiving botulinum toxin injections and serial casting. The improvement in ankle range enabled him to progress to walking practice. Ankle splinting was gradually reduced. On discharge at 25 months post-injury, the ankle joint range was maintained. Implications: The use of botulinum toxin and serial casting, followed by an intensive programme of splinting and motor training, may be an option to consider for effective long-term resolution of severe contractures after acquired brain injury.

Neu-Laxova syndrome in an appropriate for gestational age newborn

Directory of Open Access Journals (Sweden)

Dilli Dilek

2008-01-01

Full Text Available Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings, and limb contractures are its key features. We present a case of Neu-Laxova syndrome in a male appropriate for gestational age (AGA newborn with characteristic features including ichthyosis, microcephaly, severe ectropion, rudimentary ears, eclabion, limb contractures, and hypoplastic genitalia. The patient was born at 38 weeks of gestation to consanguinous Turkish parents. The mother was a 20-year-old primi gravida with lack of prenatal follow-up. Therefore, the case was diagnosed postnatally, and he died 5 days later. Because of the autosomal recessive inheritance of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, such as Turkey, physicians have to know this syndrome, and serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk. To the best of our knowledge, this is the first case described in an AGA newborn.

Digital flexor musculotendinous contracture in two Devon Rex cats.

Science.gov (United States)

Thom, Leonie K; Pool, Roy R; Malik, Richard

2017-03-01

Clinical summary: A 13-year-old, spayed Devon Rex with unilateral digital flexor musculotendinous contracture of the forelimb was treated by surgical tenotomy. The condition improved transiently, but recurred rapidly and became bilateral. Histopathologic analysis of necropsy tissues resulted in a morphologic diagnosis of fibromyositis of the antebrachial muscles causing contracture and flexural deformity of the carpi and phalanges of both thoracic limbs. A search for similar cases yielded the clinical notes of a second cat, a 10-year-old, spayed Devon Rex, also with bilateral disease. This second case responded well to surgical tenotomy but tissue biopsies were not obtained to permit microscopic assessment of the underlying pathologic process. Relevance and novel information: Acquired and permanent contracture of the digital flexor muscles and/or tendons of the forelimbs is a rare and poorly described condition of cats. The very limited number of documented cases describing disease affecting one or more digits (but not the carpus) infers a causal link with onychectomy, but reported histopathologic changes have been limited to the tendons. The two cases described in this report suffered contracture of the carpus and all digits bilaterally, one without previous onychectomy and the other 9 years after onychectomy. There were novel histopathologic findings in the muscles of the one case for which biopsy material was available. Information gained from these two cases provides a new perspective for the investigation and treatment of future cases. Specifically, consideration should be given to an underlying immune-mediated myopathic process and a possible genetic predisposition in the Devon Rex breed. Currently, the poorly understood etiopathogenesis hinders our ability to definitively recommend treatment options, which might include corticosteroids and other forms of immunosuppressive therapy.

Passive movements for the treatment and prevention of contractures.

Science.gov (United States)

Prabhu, Rama K R; Swaminathan, Narasimman; Harvey, Lisa A

2013-12-28

Contractures, a common complication following immobility, lead to restricted joint range of motion. Passive movements (PMs) are widely used for the treatment and prevention of contractures; however, it is not clear whether they are effective. The aim of this review was to determine the effects of PMs on persons with contractures or at risk of developing contractures. Specifically, the aim was to determine whether PMs increase joint mobility. We searched the Cochrane Injuries Group Specialised Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE (Ovid SP), EMBASE (Ovid SP), ISI Web of Science (SCI-EXPANDED; SSCI; CPCI-S; CPCI-SSH), PEDro and PsycINFO (Ovid SP). The search was run on 21 November 2013. Randomised controlled trials of PMs administered for the treatment or prevention of contractures were included. Studies were included if they compared the effectiveness of PMs versus no intervention, sham intervention or placebo in people with or at risk of contracture. Studies that involved other co-interventions were included, provided the co-interventions were administered in the same way to all groups. Interventions administered through mechanical devices and interventions that involved sustained stretch were excluded. Three independent review authors screened studies for inclusion. Two review authors then extracted data and assessed risk of bias. Primary outcomes were joint mobility and occurrence of adverse events such as joint subluxations or dislocations, heterotopic ossification, autonomic dysreflexia and fractures or muscle tears. Secondary outcomes were quality of life, pain, spasticity, activity limitations and participation restrictions. We used standard methodological procedures as advocated by the Cochrane Handbook for Systematic Reviews of Interventions. Two identified studies randomly assigned a total of 122 participants with neurological conditions comparing PMs versus no PMs. Data from 121 participants were available for

Localized type Volkmann's contracture treated with tendon transfer and tension-reduced early mobilization

Science.gov (United States)

Kaji, Yoshio; Nakamura, Osamu; Yamaguchi, Konosuke; Tobiume, Sachiko; Yamamoto, Tetsuji

2017-01-01

Abstract Rationale: For localized type Volkmann's contracture, in which degeneration of the flexor digitorum profundus (FDP) muscle to one or two fingers and restriction of finger extension occur, dissection or excision of the affected muscle is usually recommended. However, these surgical procedures need relatively wide exposure of the muscle, because the FDP muscle is in the deep portion of the forearm. Patient concerns: In this report, the case of a 35-year-old woman with localized type Volkmann's contracture is presented. Her left forearm had been compressed with an industrial roller 4 months earlier, and severe flexion contracture of the long finger and mild flexion contracture of the ring finger developed gradually. Diagnoses: localized type Volkmann's contracture. Intervention: Five months after the injury, transection of the FDP tendon to the long finger and transfer of the transected tendon to the FDP tendon to the index finger was performed after adjusting the tonus of these two tendons using a small skin incision. This procedure was followed by a tension-reduced early mobilization technique in which a tension-reduced position of the tendon suture site was maintained by taping the long finger to the volar side of the index finger, and then immediate active range of motion (ROM) exercise was started. Outcomes: Within 9 weeks after surgery, full ROM had been regained. Lessons: Using the treatment procedure presented in this case report, a good clinical result was obtained in a minimally invasive manner. PMID:28072735

Muscle contracture diagnosis: the role of sonoelastography.

Science.gov (United States)

Bruschetta, Daniele; Milardi, Demetrio; Trimarchi, Fabio; DI Mauro, Debora; Valenti, Andrea; Arrigo, Alessandro; Valenti, Barbara; Santoro, Giuseppe; Cascio, Filippo; Vaccarino, Gianluigi; Cacciola, Alberto

2016-12-01

Sonoelastography plays today a major role in musculoskeletal disease, showing minor muscle injuries not well appreciable in conventional B-mode ultrasonography and integrating it in major muscle injuries diagnosis. The aim of this study was to demonstrate the ability of elastosonography in the diagnosis of muscular contracture in football players presenting negative basic echography. We examined twenty-two football players using basic echography and elastosonography approximately 24-48 hours after the traumatic event and we subsequently re-evaluated them after two weeks. Conventional echography showed, in the early stage, no muscle injuries; in twenty-two out of twenty-two patients, sonoelastography had instead underlined a heterogeneous colorimetric map, related to decreased elasticity in the area of the muscle contracture. An evaluation effected 1-2 weeks later showed a clear improvement of the sonoelastographic appearance. This information will be useful for prognostication, post-traumatic monitoring and to detect subclinical changes in MIs even before there are changes on the routine B-mode ultrasound.

Physical therapy in patients with disorders of consciousness: Impact on spasticity and muscle contracture.

Science.gov (United States)

Thibaut, A; Wannez, S; Deltombe, T; Martens, G; Laureys, S; Chatelle, C

2018-01-01

Spasticity is a frequent complication after severe brain injury, which may prevent the rehabilitation process and worsen the patients' quality of life. In this study, we investigated the correlation between spasticity, muscle contracture, and the frequency of physical therapy (PT) in subacute and chronic patients with disorders of consciousness (DOC). 109 patients with subacute and chronic disorders of consciousness (Vegetative state/Unresponsive wakefulness syndrome - VS/UWS; minimally conscious state - MCS and patients who emerged from MCS - EMCS) were included in the study (39 female; mean age: 40±13.5y; 60 with traumatic etiology; 35 VS/UWS, 68 MCS, 6 EMCS; time since insult: 38±42months). The number of PT sessions (i.e., 20 to 30 minutes of conventional stretching of the four limbs) was collected based on patients' medical record and varied between 0 to 6 times per week (low PT = 0-3 and high PT = 4-6 sessions per week). Spasticity was measured with the Modified Ashworth Scale (MAS) on every segment for both upper (UL) and lower limbs (LL). The presence of muscle contracture was assessed in every joint. We tested the relationship between spasticity and muscle contracture with the frequency of PT as well as other potential confounders such as time since injury or anti-spastic medication intake. We identified a negative correlation between the frequency of PT and MAS scores as well as the presence of muscle contracture. We also identified that patients who received less than four sessions per week were more likely to be spastic and suffer from muscle contracture than patients receiving 4 sessions or more. When separating subacute (3 to 12 months post-insult) and chronic (>12months post-insult) patients, these negative correlations were only observed in chronic patients. A logit regression model showed that frequency of PT influenced spasticity, whereas neither time since insult nor medication had a significant impact on the presence of spasticity. On

Frequency of the superior rectus muscle overaction/contracture syndrome in unilateral fourth nerve palsy.

Science.gov (United States)

Molinari, Andrea; Ugrin, Maria Cristina

2009-12-01

Superior oblique palsy is accompanied in most cases by overaction of the muscle's ipsilateral antagonist, the inferior oblique muscle. Overaction and contracture of the ipsilateral superior rectus muscle in patients with unilateral fourth (trochlear) nerve palsy is seldom discussed in the literature. The purpose of this study is to evaluate the frequency of superior rectus muscle overaction/contracture syndrome in patients with unilateral trochlear nerve palsy. The records of 198 patients with unilateral trochlear nerve palsy examined by the authors between July 1987 and July 2008 were reviewed retrospectively. All patients underwent complete eye examination with measurement of the deviation in the 9 positions of gaze and with the head tilted to both sides in all cooperative patients. Selection criteria for superior rectus muscle overaction/contracture syndrome in these patients were as follows: vertical deviation of 15(Delta) or larger in primary position, equal or larger hypertropia with the ipsilateral forced tilt test than with the eyes looking straight ahead, more than 5(Delta) hypertropia of the affected eye in horizontal gaze to the same side, hypertropia in all upgazes, and overaction of the contralateral superior oblique muscle. Of 198 patients, 33 (16.6%) met the selection criteria for superior rectus muscle overaction/contracture syndrome. Superior rectus muscle overaction/contracture syndrome frequently occurs in unilateral superior oblique palsy.

Half of the adults who present to hospital with stroke develop at least one contracture within six months: an observational study.

Science.gov (United States)

Kwah, Li Khim; Harvey, Lisa A; Diong, Joanna H L; Herbert, Robert D

2012-01-01

What is the incidence of contractures six months after stroke? Can factors measured within four weeks of stroke predict the development of elbow, wrist, and ankle contractures six months later? Prospective cohort study. Consecutive sample of 200 adults with stroke admitted to a Sydney hospital. Loss of range of motion in major joints of the body was measured using a 4-point ordinal contracture scale. In addition, elbow extension, wrist extension, and ankle dorsiflexion range of motion were measured using torque-controlled procedures. Potential predictors of contracture were age, pre-morbid function, severity of stroke, muscle strength, spasticity, motor function, and pain. Measurements were obtained within four weeks of stroke and at six months after stroke. 52% of participants developed at least one contracture. Incidence of contracture varied across joints from 12% to 28%; shoulders and hips were most commonly affected. Muscle strength was a significant predictor of elbow, wrist, and ankle joint range. Prediction models explained only 6% to 20% of variance in elbow, wrist, and ankle joint range. About half of all patients with stroke develop at least one contracture within six months of stroke. Incidence of contractures across all joints ranged from 12% to 28%. Muscle strength is a significant predictor of elbow, wrist, and ankle contractures but cannot be used to accurately predict contractures in these joints. Copyright © 2012 Australian Physiotherapy Association. Published by .. All rights reserved.

Splinting after contracture release for Dupuytren's contracture (SCoRD: protocol of a pragmatic, multi-centre, randomized controlled trial

Directory of Open Access Journals (Sweden)

Chojnowski Adrian J

2008-04-01

Full Text Available Abstract Background Splinting as part of the overall post-surgical management of patients after release of Dupuytren's contracture has been widely reported, though there is variation in practice and criteria for using it. The evidence on its effectiveness is sparse, of poor quality and contradictory with studies reporting negative and positive effects. Methods/Design A multi-centre, pragmatic, randomized, controlled trial is being conducted to evaluate the effect of static night splinting for six months on hand function, range of movement, patient satisfaction and recurrence at 1 year after fasciectomy or dermofasciectomy. Using a centrally administered computer randomization system consented patients will be allocated to one of two groups: i splint group who will be given a static splint at approximately 10 to 14 days after surgery to be worn for 6 months at night time only as well as hand therapy; ii non-splint group, who will receive hand therapy only. The primary outcome measure is the patient-reported Disabilities of the Arm, Hand and Shoulder Questionnaire (DASH. Secondary outcomes are total active flexion and extension of fingers, patient satisfaction and recurrence of contracture. Outcome measures will be collected prior to surgery, 3 months, 6 months and 1 year after surgery. Using the DASH as the primary outcome measure, where a difference of 15 points is considered to be a clinically important difference a total of 51 patients will be needed in each group for a power of 90%. An intention-to-treat analysis will be used. Discussion This pragmatic randomized controlled trial will provide much needed evidence on the clinical effectiveness of post-operative night splinting in patients who have undergone fasciectomy or dermofasciectomy for Dupuytren's contracture of the hand. Trial Registration Current Controlled Trials ISRCTN 57079614

Digital flexor tendon contracture treated by tenectomy: different clinical presentations in three cats

Directory of Open Access Journals (Sweden)

Quentin Cabon

2015-07-01

Full Text Available Case series summary Three cats, Siamese or Siamese cross, were presented with a chronic thoracic limb weightbearing lameness. Previous anti-inflammatory administrations were unable to improve lameness consistently in the three cats. Two of the three cats had undergone onychectomy several years before presentation. A permanent flexion of the proximal interphalangeal joint of one or more digits, associated with a difficult and painful extension of the proximal interphalangeal joint, was noticed during orthopedic examination. A digital flexor tendon contracture was suspected and confirmed with radiographic examination. Surgical exploration was then performed. For all cats, treatment consisted of a tenectomy or tenotomy of the superficial and deep digital flexor tendons in order to release the contracture. The three cats responded well to the surgical treatment and became sound around 2–4 weeks after surgery. Relevance and novel information Digital flexor tendon contracture is rarely reported as a cause of lameness in cats. It should be considered in a differential diagnosis of feline lameness whenever onychectomy has been performed in the past. The precise etiology that explains this tendon contracture is unknown, but trauma or breed predisposition could represent potential causes.

Osteogenesis imperfecta with joint contractures: Bruck syndrome

International Nuclear Information System (INIS)

Blacksin, M.F.; Pletcher, B.A.; David, M.

1998-01-01

We describe an Egyptian boy with osteogenesis imperfecta who was born with thumb contractures and bilateral antecubital pterygia. He was seen at 16 months of age with femur and tibial fractures, thoracic vertebral compression fractures, scoliosis and Wormian bones. The findings are consistent with a diagnosis of Bruck syndrome. (orig.)

Reduced satellite cell population may lead to contractures in children with cerebral palsy.

Science.gov (United States)

Smith, Lucas R; Chambers, Henry G; Lieber, Richard L

2013-03-01

Satellite cells are the stem cells residing in muscle responsible for skeletal muscle growth and repair. Skeletal muscle in cerebral palsy (CP) has impaired longitudinal growth that results in muscle contractures. We hypothesized that the satellite cell population would be reduced in contractured muscle. We compared the satellite cell populations in hamstring muscles from participants with CP contracture (n=8; six males, two females; age range 6-15y; Gross Motor Function Classification System [GMFCS] levels II-V; 4 with hemiplegia, 4 with diplegia) and from typically developing participants (n=8; six males, two females, age range 15-18y). Muscle biopsies were extracted from the gracilis and semitendinosus muscles and mononuclear cells were isolated. Cell surface markers were stained with fluorescently conjugated antibodies to label satellite cells (neural cell adhesion molecule) and inflammatory and endothelial cells (CD34 and CD4 respectively). Cells were analyzed using flow cytometry to determine cell populations. After gating for intact cells a mean of 12.8% (SD 2.8%) were determined to be satellite cells in typically developing children, but only 5.3% (SD 2.3%; p0.05) suggesting the isolation procedure was valid. A reduced satellite cell population may account for the decreased longitudinal growth of muscles in CP that develop into fixed contractures or the decreased ability to strengthen muscle in CP. This suggests a unique musculoskeletal disease mechanism and provides a potential therapeutic target for debilitating muscle contractures. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

[Effectiveness of dorsal metacarpal island flap for treating scar contracture of finger web].

Science.gov (United States)

Qian, Jun; Rui, Yongjun; Zhang, Quanrong; Xue, Mingyu; Zhang, Zhihai

2011-11-01

To investigate the effectiveness of dorsal metacarpal island flap for treating scar contracture of the finger web. Between June 2009 and December 2010, 10 patients with scar contracture of the finger web were treated. There were 6 males and 4 females with an average age of 30 years (range, 14-57 years). Scar contracture was caused by injury in 8 cases, by burn in 1 case, and by operation in 1 case. The locations were the 1st web space in 1 case, the 2nd web space in 3 cases, the 3rd web space in 5 cases, and the 4th web space in 1 case. The disease duration was 3 to 9 months with an average of 5 months. The maximum abduction was 10-20 degrees. After web space scar release, the dorsal metacarpal island flap (3.5 cm x 1.2 cm-4.0 cm x 2.0 cm in size) was used to reconstruct web space (2.0 cm x 1.0 cm-3.0 cm x 1.8 cm in size). The donor site was directly sutured or repaired with local flaps. At 2 days after operation, necrosis occurred in 1 flap, which healed by extractive treatment. The other flaps survived and wound healed by first intention; all the flaps at donor sites survived and incision healed by first intention. Ten patients were followed up 6 to 15 months (mean, 9 months). The reconstructed web space had good appearance, the maximum abduction was 80 degrees in 1 case of the 1st web space scars contracture, and the maximum abduction was 35-45 degrees (mean, 40 degrees) in the other 9 cases. In 8 scar patients causing by injury, no scar contracture recurred during follow-up. It can achieve good results in appearance and function to use dorsal metacarpal island flap for treating scar contracture of the finger web.

Stretching After Heat But Not After Cold Decreases Contractures After Spinal Cord Injury in Rats.

Science.gov (United States)

Iwasawa, Hiroyuki; Nomura, Masato; Sakitani, Naoyoshi; Watanabe, Kosuke; Watanabe, Daichi; Moriyama, Hideki

2016-12-01

Contractures are a prevalent and potentially severe complication in patients with neurologic disorders. Although heat, cold, and stretching are commonly used for treatment of contractures and/or spasticity (the cause of many contractures), the sequential effects of these modalities remain unclear. Using an established rat model with spinal cord injury with knee flexion contracture, we sought to determine what combination of heat or cold before stretching is the most effective for treatment of contractures derived from spastic paralyses and investigated which treatment leads to the best (1) improvement in the loss of ROM; (2) restoration of deterioration in the muscular and articular factors responsible for contractures; and (3) amelioration of histopathologic features such as muscular fibrosis in biceps femoris and shortening of the joint capsule. Forty-two adolescent male Wistar rats were used. After spasticity developed at 2 weeks postinjury, each animal with spinal cord injury underwent the treatment protocol daily for 1 week. Knee extension ROM was measured with a goniometer by two examiners blinded to each other's scores. The muscular and articular factors contributing to contractures were calculated by measuring ROM before and after the myotomies. We quantitatively measured the muscular fibrosis and the synovial intima length, and observed the distribution of collagen of skeletal muscle. The results were confirmed by a blinded observer. The ROM of heat alone (34° ± 1°) and cold alone (34° ± 2°) rats were not different with the numbers available from that of rats with spinal cord injury (35° ± 2°) (p = 0.92 and 0.89, respectively). Stretching after heat (24° ± 1°) was more effective than stretching alone (27° ± 3°) at increasing ROM (p contractures. Although quantification of muscular fibrosis in the rats with spinal cord injury (11% ± 1%) was higher than that of controls (9% ± 0.4%) (p = 0.01), no difference was found between spinal cord

Neuro-musculoskeletal simulation of instrumented contracture and spasticity assessment in children with cerebral palsy.

Science.gov (United States)

van der Krogt, Marjolein Margaretha; Bar-On, Lynn; Kindt, Thalia; Desloovere, Kaat; Harlaar, Jaap

2016-07-16

Increased resistance in muscles and joints is an important phenomenon in patients with cerebral palsy (CP), and is caused by a combination of neural (e.g. spasticity) and non-neural (e.g. contracture) components. The aim of this study was to simulate instrumented, clinical assessment of the hamstring muscles in CP using a conceptual model of contracture and spasticity, and to determine to what extent contracture can be explained by altered passive muscle stiffness, and spasticity by (purely) velocity-dependent stretch reflex. Instrumented hamstrings spasticity assessment was performed on 11 children with CP and 9 typically developing children. In this test, the knee was passively stretched at slow and fast speed, and knee angle, applied forces and EMG were measured. A dedicated OpenSim model was created with motion and muscles around the knee only. Contracture was modeled by optimizing the passive muscle stiffness parameters of vasti and hamstrings, based on slow stretch data. Spasticity was modeled using a velocity-dependent feedback controller, with threshold values derived from experimental data and gain values optimized for individual subjects. Forward dynamic simulations were performed to predict muscle behavior during slow and fast passive stretches. Both slow and fast stretch data could be successfully simulated by including subject-specific levels of contracture and, for CP fast stretches, spasticity. The RMS errors of predicted knee motion in CP were 1.1 ± 0.9° for slow and 5.9 ± 2.1° for fast stretches. CP hamstrings were found to be stiffer compared with TD, and both hamstrings and vasti were more compliant than the original generic model, except for the CP hamstrings. The purely velocity-dependent spasticity model could predict response during fast passive stretch in terms of predicted knee angle, muscle activity, and fiber length and velocity. Only sustained muscle activity, independent of velocity, was not predicted by our model. The

Afferent Innervation, Muscle Spindles, and Contractures Following Neonatal Brachial Plexus Injury in a Mouse Model.

Science.gov (United States)

Nikolaou, Sia; Hu, Liangjun; Cornwall, Roger

2015-10-01

We used an established mouse model of elbow flexion contracture after neonatal brachial plexus injury (NBPI) to test the hypothesis that preservation of afferent innervation protects against contractures and is associated with preservation of muscle spindles and ErbB signaling. A model of preganglionic C5 through C7 NBPI was first tested in mice with fluorescent axons using confocal imaging to confirm preserved afferent innervation of spindles despite motor end plate denervation. Preganglionic and postganglionic injuries were then created in wild-type mice. Four weeks later, we assessed total and afferent denervation of the elbow flexors by musculocutaneous nerve immunohistochemistry. Biceps muscle volume and cross-sectional area were measured by micro computed tomography. An observer who was blinded to the study protocol measured elbow flexion contractures. Biceps spindle and muscle fiber morphology and ErbB signaling pathway activity were assessed histologically and immunohistochemically. Preganglionic and postganglionic injuries caused similar total denervation and biceps muscle atrophy. However, after preganglionic injuries, afferent innervation was partially preserved and elbow flexion contractures were significantly less severe. Spindles degenerated after postganglionic injury but were preserved after preganglionic injury. ErbB signaling was inactivated in denervated spindles after postganglionic injury but ErbB signaling activity was preserved in spindles after preganglionic injury with retained afferent innervation. Preganglionic and postganglionic injuries were associated with upregulation of ErbB signaling in extrafusal muscle fibers. Contractures after NBPI are associated with muscle spindle degeneration and loss of spindle ErbB signaling activity. Preservation of afferent innervation maintained spindle development and ErbB signaling activity, and protected against contractures. Pharmacologic modulation of ErbB signaling, which is being investigated as a

Osteogenesis imperfecta with joint contractures: Bruck syndrome

Energy Technology Data Exchange (ETDEWEB)

Blacksin, M.F. [Department of Radiology, University of Medicine and Dentistry of New Jersey, 150 Bergen St., Rm. C320, Newark, NJ 07103-2426 (United States); Pletcher, B.A. [Center for Human and Molecular Genetics, Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, New Jersey (United States); David, M. [Department of Radiology, Newark-Beth Israel Medical Center, Newark, New Jersey (United States)

1998-02-01

We describe an Egyptian boy with osteogenesis imperfecta who was born with thumb contractures and bilateral antecubital pterygia. He was seen at 16 months of age with femur and tibial fractures, thoracic vertebral compression fractures, scoliosis and Wormian bones. The findings are consistent with a diagnosis of Bruck syndrome. (orig.) With 1 fig., 5 refs.

Degree of Contracture Related to Residual Muscle Shoulder Strength in Children with Obstetric Brachial Plexus Lesions

NARCIS (Netherlands)

van Gelein Vitringa, V. M.; van Noort, A.; Ritt, M.J.P.F.; van Royen, B.J.; van der Sluijs, J.A.

2015-01-01

Background and Objectives Little is known about the relation between residual muscle strength and joint contracture formation in neuromuscular disorders. This study aimed to investigate the relation between residual muscle strength and shoulder joint contractures in children with sequelae of

Quality of life in older individuals with joint contractures in geriatric care settings.

Science.gov (United States)

Heise, Marco; Müller, Martin; Fischer, Uli; Grill, Eva

2016-09-01

The purpose of this study was to analyze the association between functioning and disability and quality of life (QoL) in older individuals with joint contractures in the geriatric care setting. More specifically, this study aimed to identify determinants of QoL out of a defined set of contracture-related categories of the International Classification of Functioning, Disability and Health (ICF). Participants for this multicenter cross-sectional survey were recruited from acute geriatric rehabilitation hospitals, nursing homes, and community nursing facilities in Germany between February and October 2013. QoL was assessed using the validated German version of the EQ-5D index score and the EQ-5D visual analog scale (VAS). Manual and automatic variable selection methods were used to identify the most relevant variables out of 125 contracture-related ICF categories. A total of 241 eligible participants (34.9 % male, mean age 80.1 years) were included. The final models contained 14 ICF categories as predictors of the EQ-5D index score and 15 categories as predictors of the EQ-5D VAS. The statistically significant ICF categories from both models were 'muscle power functions (b730),' 'memory functions (b144),' 'taking care of plants (d6505),' 'recreation and leisure (d920),' 'religion and spirituality (d930),' 'drugs (e1101),' and 'products and technology for personal use in daily living (e115).' We identified the most relevant ICF categories for older individuals with joint contractures and their health-related quality of life. These items describe potential determinants of QoL which may provide the basis for future health interventions aiming to improve QoL for the patients with joint contractures.

The phenotypic spectrum of congenital Zika syndrome.

Science.gov (United States)

Del Campo, Miguel; Feitosa, Ian M L; Ribeiro, Erlane M; Horovitz, Dafne D G; Pessoa, André L S; França, Giovanny V A; García-Alix, Alfredo; Doriqui, Maria J R; Wanderley, Hector Y C; Sanseverino, Maria V T; Neri, João I C F; Pina-Neto, João M; Santos, Emerson S; Verçosa, Islane; Cernach, Mirlene C S P; Medeiros, Paula F V; Kerbage, Saile C; Silva, André A; van der Linden, Vanessa; Martelli, Celina M T; Cordeiro, Marli T; Dhalia, Rafael; Vianna, Fernanda S L; Victora, Cesar G; Cavalcanti, Denise P; Schuler-Faccini, Lavinia

2017-04-01

In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task force (SBGM-ZETF) to study the phenotype of infants born with microcephaly due to ZIKV congenital infection and delineate the phenotypic spectrum of this newly recognized teratogen. This study was based on the clinical evaluation and neuroimaging of 83 infants born during the period from July, 2015 to March, 2016 and registered by the SBGM-ZETF. All 83 infants had significant findings on neuroimaging consistent with ZIKV congenital infection and 12 had confirmed ZIKV IgM in CSF. A recognizable phenotype of microcephaly, anomalies of the shape of skull and redundancy of the scalp consistent with the Fetal Brain Disruption Sequence (FBDS) was present in 70% of infants, but was most often subtle. In addition, features consistent with fetal immobility, ranging from dimples (30.1%), distal hand/finger contractures (20.5%), and feet malpositions (15.7%), to generalized arthrogryposis (9.6%), were present in these infants. Some cases had milder microcephaly or even a normal head circumference (HC), and other less distinctive findings. The detailed observation of the dysmorphic and neurologic features in these infants provides insight into the mechanisms and timings of the brain disruption and the sequence of developmental anomalies that may occur after prenatal infection by the ZIKV. © 2017 Wiley Periodicals, Inc.

Finger island flaps for treatment of dermato-desmogenic flexion contractures of proximal interphalangeal joints

Directory of Open Access Journals (Sweden)

T. S. Antonova

2016-12-01

Full Text Available Soft tissue defect will form after operative treatment of the dermato-desmogenic flexion contractures of fingers interphalangeal joints of the 2–3 grades after excision of the scar. Using the island flaps (Littler at the central vascular pedicle is one of the classical methods of plastic closure of such defects. Goal. To study the effectiveness of the surgical treatment of dermato-desmogenic flexion contractures of proximal interphalangeal joints of the fingers by using finger island flaps at the central vascular or neuro-vascular pedicle. Materials and methods. 14 operations were carried out on 13 patients for removing dermato-desmogenic flexion contractures of proximal interphalangeal (PIP joints of triphalangeal fingers over a 2-year period (2013–2015. The group included patients with a flexion contracture of the 2–3 grades PIP joints of triphalangeal fingers. Operations were performed on average 5 months after the injury (from 1.5 up to 16 months. Finger island flap in all cases was taken from adjacent finger by using the blood supply of their common finger artery. In all cases the island flap on the central pedicel was used, in 9 cases digital nerve was included in the pedicle (Littler. Closure of donor wound was made with free-skin grafts. Permanent splinting of the hand with extension of the interphalangeal joints and moderate flexion of the metacarpophalangeal joints were performed during 7–8 days after surgery, then exercise therapy was prescribed. Results. The results were estimated 6 and 12 months after surgery. All the results were regarded as excellent. In 5 cases of using the flap on a vascular pedicle flap hypoesthesia was detected, that has not led to dysfunction of the hand. Contracture recurrence during follow-up was not observed. Conclusions. Using the surgery for treatment of dermato-desmogenic flexion contractures of proximal interphalangeal joints of the fingers with the island flaps at the central vascular or neuro

Reconstruction of hand contracture by reverse ulnar perforator flap

Directory of Open Access Journals (Sweden)

Cengiz Eser

2016-04-01

Full Text Available Hand burn scar contractures affect patients in aesthetic and functional aspects. After releasing these scars, the defects should be repaired. The reconstruction methods include primary suturation, Z plasty, skin grafting, local or free flaps, etc. All methods have their own advantages and disadvantages. One of the most useful flaps is the reverse ulnar perforator flap. We performed a two-staged procedure for repairing a post-burn contracture release defect in a 40-year-old male. In the first stage we applied reverse ulnar perforator flap for the hand defect, and ulnar artery and vein repair in the second stage. In conclusion, this two-staged procedure is a non-primary but useful option for hand and finger defects and prevents major vascular structure damage of the forearm. [Hand Microsurg 2016; 5(1.000: 40-43

Camptodactyly: A Phenotype of Dupuytren′s Contracture

Directory of Open Access Journals (Sweden)

Kamleader Singh

1985-01-01

Full Text Available A 15 year old boy had permanent flexion contractures at proximal interphalangeal joints of the little and ring fingers of both hands, along with slight hemiatrophy of face and bilateral mild ptosis. The hand deformity superficially resembled. Dupuytren′s contacture. This combination of features does not fit with the syndromes described so far, whose one of, the components is camptodactyly.

Biceps brachii long head overactivity associated with elbow flexion contracture in brachial plexus birth palsy.

Science.gov (United States)

Sheffler, Lindsey C; Lattanza, Lisa; Sison-Williamson, Mitell; James, Michelle A

2012-02-15

The etiology of elbow flexion contracture in children with brachial plexus birth palsy remains unclear. We hypothesized that the long head of the biceps brachii muscle assists with shoulder stabilization in children with brachial plexus birth palsy and that overactivity of the long head during elbow and shoulder activity is associated with an elbow flexion contracture. Twenty-one patients with brachial plexus birth palsy-associated elbow flexion contracture underwent testing with surface electromyography. Twelve patients underwent repeat testing with fine-wire electromyography. Surface electrodes were placed on the muscle belly, and fine-wire electrodes were inserted bilaterally into the long and short heads of the biceps brachii. Patients were asked to perform four upper extremity tasks: elbow flexion-extension, hand to head, high reach, and overhead ball throw. The mean duration of muscle activity in the affected limb was compared with that in the contralateral, unaffected limb, which was used as a control. Three-dimensional motion analysis, surface dynamometry, and validated function measures were used to evaluate upper extremity kinematics, elbow flexor-extensor muscle imbalance, and function. The mean activity duration of the long head of the biceps brachii muscle was significantly higher in the affected limb as compared with the contralateral, unaffected limb during hand-to-head tasks (p = 0.02) and high-reach tasks (p = 0.03). No significant differences in mean activity duration were observed for the short head of the biceps brachii muscle between the affected and unaffected limbs. Isometric strength of elbow flexion was not significantly higher than that of elbow extension in the affected limb (p = 0.11). Overactivity of the long head of the biceps brachii muscle is associated with and may contribute to the development of elbow flexion contracture in children with brachial plexus birth palsy. Elbow flexion contracture may not be associated with an elbow

Passive mechanical properties of gastrocnemius muscles of people with ankle contracture after stroke.

Science.gov (United States)

Kwah, Li Khim; Herbert, Robert D; Harvey, Lisa A; Diong, Joanna; Clarke, Jillian L; Martin, Joshua H; Clarke, Elizabeth C; Hoang, Phu D; Bilston, Lynne E; Gandevia, Simon C

2012-07-01

To investigate the mechanisms of contracture after stroke by comparing passive mechanical properties of gastrocnemius muscle-tendon units, muscle fascicles, and tendons in people with ankle contracture after stroke with control participants. Cross-sectional study. Laboratory in a research institution. A convenience sample of people with ankle contracture after stroke (n=20) and able-bodied control subjects (n=30). Not applicable. Stiffness and lengths of gastrocnemius muscle-tendon units, lengths of muscle fascicles, and tendons at specific tensions. At a tension of 100N, the gastrocnemius muscle-tendon unit was significantly shorter in participants with stroke (mean, 436mm) than in able-bodied control participants (mean, 444mm; difference, 8mm; 95% confidence interval [CI], 0.2-15mm; P=.04). Muscle fascicles were also shorter in the stroke group (mean, 44mm) than in the control group (mean, 50mm; difference, 6mm; 95% CI, 1-12mm; P=.03). There were no significant differences between groups in the mean stiffness or length of the muscle-tendon units and fascicles at low tension, or in the mean length of the tendons at any tension. People with ankle contracture after stroke have shorter gastrocnemius muscle-tendon units and muscle fascicles than control participants at high tension. This difference is not apparent at low tension. Copyright © 2012 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Biceps Tendon Lengthening Surgery for Failed Serial Casting Patients With Elbow Flexion Contractures Following Brachial Plexus Birth Injury.

Science.gov (United States)

Nath, Rahul K; Somasundaram, Chandra

2016-01-01

Assessment of surgical outcomes of biceps tendon lengthening (BTL) surgery in obstetric brachial plexus injury (OBPI) patients with elbow flexion contractures, who had unsuccessful serial casting. Serial casting and splinting have been shown to be effective in correcting elbow flexion contractures in OBPI. However, the possibilities of radial head dislocations and other complications have been reported in serial casting and splinting. Literature indicates surgical intervention when such nonoperative techniques and range-of-motion exercises fail. Here, we demonstrated a significant reduction of the contractures of the affected elbow and improvement in arm length to more normal after BTL in these patients, who had unsuccessful serial casting. Ten OBPI patients (6 girls and 4 boys) with an average age of 11.2 years (4-17.7 years) had BTL surgery after unsuccessful serial casting. Mean elbow flexion contracture was 40° before and 37° (average) after serial casting. Mean elbow flexion contracture was reduced to 8° (0°-20°) post-BTL surgical procedure with an average follow-up of 11 months. This was 75% improvement and statistically significant (P casting. These OBPI patients in our study had 75% significant reduction in elbow flexion contractures and achieved an improved and more normal length of the affected arm after the BTL surgery when compared to only 7% insignificant reduction and no improvement in arm length after serial casting.

Eyelid contracture may indicate recurrent basal cell carcinoma, even after Mohs' micrographic surgery.

Science.gov (United States)

Ong, Lorraine Y; Lane, Carol M

2009-01-01

Mohs' micrographic surgery (MMS) is an effective means of margin control in the management of periocular basal cell carcinomas (BCC). We describe three cases of recurrent BCC that presented with progressive eyelid contracture after MMS. They illustrate high-risk factors for recurrence, namely large tumor size, medial canthal location, previous treatment, and aggressive histological features. Careful long-term surveillance with serial photography may identify early eyelid contracture and thus assist in the detection of recurrent BCC after MMS and improve patient outcome.

[Insertion of gluteus maximus tendo-chilles lengthening with Z-shaped for the treatment of severe gluteal muscle contracture].

Science.gov (United States)

Chen, Huan-shi; Yang, Xiao-long

2015-06-01

To investigate clinical curative effects of gluteal muscle contracture release combined with insertion of gluteus maximus tendo-chilles lengthening with Z-shaped in treating severe gluteal muscles contracture. From 2006 May to 2011 May, 20 patients (35 sides) with severe gluteal muscle contracture were collected, including 12 males and 8 females, aged from 8 to 34 years old with an average of 13 years old; the courses of disease ranged from 3 to 21 years. All patients manifested abnormal gait at different degree, knees close together cannot squat,positive syndrome of Ober, positive test of alice leg. Gluteus contracture fascia release were performed firstly in operation, then insertion of tendo-chilles lengthening with Z-shaped were carried out. Preoperative and postoperative gait, and knee flexion hip extensor squat test, cross leg test, adduction and internal rotary activity of hip joint, stretch strength and motor ability after hip abduction were observed and compared. Twenty patients were followed up for 1 to 5 years. Gluteus maximus were released thoroughly, and snapping hip was disappeared, Ober syndrome were negative. There was significant differences in knee flexion hip extensor squat test, adduction and internal rotary activity of hip joint,stretch before and after operation (Pmuscle strength was protected,stretch strength and motor ability of hip joint were recovered well. Among them,31 cases got excellent results and 4 good. For severe gluteal muscles contracture,insertion of gluteus maximus tendo-chilles lengthening with Z-shaped performed after gluteus contracture fascia release could release gluteal muscle contracture to the greatest extent and obtain postoperative curative effect without resection of normal hip muscle fibers and destroy joint capsule.

The effects of denervation, reinnervation, and muscle imbalance on functional muscle length and elbow flexion contracture following neonatal brachial plexus injury.

Science.gov (United States)

Weekley, Holly; Nikolaou, Sia; Hu, Liangjun; Eismann, Emily; Wylie, Christopher; Cornwall, Roger

2012-08-01

The pathophysiology of paradoxical elbow flexion contractures following neonatal brachial plexus injury (NBPI) is incompletely understood. The current study tests the hypothesis that this contracture occurs by denervation-induced impairment of elbow flexor muscle growth. Unilateral forelimb paralysis was created in mice in four neonatal (5-day-old) BPI groups (C5-6 excision, C5-6 neurotomy, C5-6 neurotomy/repair, and C5-T1 global excision), one non-neonatal BPI group (28-day-old C5-6 excision), and two neonatal muscle imbalance groups (triceps tenotomy ± C5-6 excision). Four weeks post-operatively, motor function, elbow range of motion, and biceps/brachialis functional lengths were assessed. Musculocutaneous nerve (MCN) denervation and reinnervation were assessed immunohistochemically. Elbow flexion motor recovery and elbow flexion contractures varied inversely among the neonatal BPI groups. Contracture severity correlated with biceps/brachialis shortening and MCN denervation (relative axon loss), with no contractures occurring in mice with MCN reinnervation (presence of growth cones). No contractures or biceps/brachialis shortening occurred following non-neonatal BPI, regardless of denervation or reinnervation. Neonatal triceps tenotomy did not cause contractures or biceps/brachialis shortening, nor did it worsen those following neonatal C5-6 excision. Denervation-induced functional shortening of elbow flexor muscles leads to variable elbow flexion contractures depending on the degree, permanence, and timing of denervation, independent of muscle imbalance. Copyright © 2012 Orthopaedic Research Society.

Lethal Progressive Thoracic Insufficiency in a Neonate Due to Jarcho Levin Syndrome

Science.gov (United States)

Bhutia, Euden; Maria, Arti; Verma, Arushi; Sethi, Sidharth Kumar

2014-01-01

A rare case of Jarcho Levin syndrome (JLS) presenting as a lethal progressive respiratory insufficiency in early neonatal period is reported. The neonate had classical features of this syndrome including vertebral segmentation defects, typical costo-vertebral fusion defects and scoliosis resulting in small thoracic volume and limited chest expansion; all consistent with a clinical diagnosis of JLS with thoracic insufficiency. In addition, our case had a rare association of dextrocardia and acyanotic congenital heart disease. PMID:24741543

Cost-effectiveness in the management of Dupuytren's contracture. A Canadian cost-utility analysis of current and future management strategies.

Science.gov (United States)

Baltzer, H; Binhammer, P A

2013-08-01

In Canada, Dupuytren's contracture is managed with partial fasciectomy or percutaneous needle aponeurotomy (PNA). Injectable collagenase will soon be available. The optimal management of Dupuytren's contracture is controversial and trade-offs exist between the different methods. Using a cost-utility analysis approach, our aim was to identify the most cost-effective form of treatment for managing Dupuytren's contracture it and the threshold at which collagenase is cost-effective. We developed an expected-value decision analysis model for Dupuytren's contracture affecting a single finger, comparing the cost-effectiveness of fasciectomy, aponeurotomy and collagenase from a societal perspective. Cost-effectiveness, one-way sensitivity and variability analyses were performed using standard thresholds for cost effective treatment ($50 000 to $100 000/QALY gained). Percutaneous needle aponeurotomy was the preferred strategy for managing contractures affecting a single finger. The cost-effectiveness of primary aponeurotomy improved when repeated to treat recurrence. Fasciectomy was not cost-effective. Collagenase was cost-effective relative to and preferred over aponeurotomy at $875 and $470 per course of treatment, respectively. In summary, our model supports the trend towards non-surgical interventions for managing Dupuytren's contracture affecting a single finger. Injectable collagenase will only be feasible in our publicly funded healthcare system if it costs significantly less than current United States pricing.

Histone methylations in heart development, congenital and adult heart diseases.

Science.gov (United States)

Zhang, Qing-Jun; Liu, Zhi-Ping

2015-01-01

Heart development comprises myocyte specification, differentiation and cardiac morphogenesis. These processes are regulated by a group of core cardiac transcription factors in a coordinated temporal and spatial manner. Histone methylation is an emerging epigenetic mechanism for regulating gene transcription. Interplay among cardiac transcription factors and histone lysine modifiers plays important role in heart development. Aberrant expression and mutation of the histone lysine modifiers during development and in adult life can cause either embryonic lethality or congenital heart diseases, and influences the response of adult hearts to pathological stresses. In this review, we describe current body of literature on the role of several common histone methylations and their modifying enzymes in heart development, congenital and adult heart diseases.

Epidermolytic hyperkeratosis with a rare digital contracture

Directory of Open Access Journals (Sweden)

Das Sudip

2007-01-01

Full Text Available A sixteen year-old male patient with no history of consanguinity in the family, reported with patchy, thickened lichenified plaques over the whole body. Some areas had normal skin while some were Blaschkoid lesions. The child had delayed milestones along with hypogonadism. Digital contracture with palmoplantar keratoderma was present. Histopathology showed characteristic vacuolar degeneration of the upper epidermis and suprabasilar keratinocytes with hyperkeratosis.

Plantar fibromatosis and Dupuytren’s contracture in an adolescent

Directory of Open Access Journals (Sweden)

Nikolić Jelena

2011-01-01

Full Text Available Background. Fibromatosis represents a wide group of benign, locally proliferative disorders of fibroblasts. Dupuytren` s disease is a benign proliferative disease of palmar aponeurosis which usually affects adults between 40 and 60 years of age. Ledderhose`s disease or plantar fibromatosis is plantar equivalent of Dupuyten`s disease most often affecting middle- aged and older men, usually bilateral, represented with painless nodule in the medial division of plantar fascia. Case report. We presented a 19-year old adolescent that turned to a plastic surgeon complaining to his small finger contracture. He noticed palmar thickening with nodule over the metacarpophalangeal joint of small finger of his right hand when he was 16 years old. A year later a finger started to band. During physical checkup we noticed plantar nodule that also had his father and grandmother. Magnetic resonance and tumor biopsy confirmed a suspicion on plantar fibromatosis - Ledderhose`s disease. Clinical exam of the hand clearly led to a conclusion that the patient had Dupuytren`s contracture with pretendinous cord over the small finger flexor tendons and lack of extension of proximal interphalangeal (PIP joint. On the extensor side of the PIP joints there were Garrod`s nodes. The patient refused surgical treatment of plantar tumor, but agreed to surgical correction of finger contracture. Conclusion. Despite the fact that Dupuytren`s disease and plantar fibromatosis are diseases of adults, the possibility of conjoint appearance of these forms of fibromatosis in adolescent period of life should be kept in mind especially in patients with strong genetic predisposition.

Severe Spastic Contractures and Diabetes Mellitus Independently Predict Subsequent Minimal Trauma Fractures Among Long-Term Care Residents.

Science.gov (United States)

Lam, Kuen; Leung, Man Fuk; Kwan, Chi Wai; Kwan, Joseph

2016-11-01

The study aimed to examine the epidemiology of hypertonic contractures and its relationship with minimal trauma fracture (MTF), and to determine the incidence and predictors of (MTF) in long-term care residents. This was a longitudinal cohort study of prospectively collected data. Participants were followed from March 2007 to March 2016 or until death. A 300-bed long-term care hospital in Hong Kong. All long-term care residents who were in need of continuous medical and nursing care for their activities of daily living. Information on patients' demographic data, severe contracture defined as a decrease of 50% or more of the normal passive range of joint movement of the joint, and severe limb spasticity defined by the Modified Ashworth Scale higher than grade 3, medical comorbidities, functional status, cognitive status, nutritional status including body mass index and serum albumin, past history of fractures, were evaluated as potential risk factors for subsequent MTF. Three hundred ninety-six residents [148 males, mean ± standard deviation (SD), age = 79 ± 16 years] were included for analysis. The presence of severe contracture was highly prevalent among the study population: 91% of residents had at least 1 severe contracture, and 41% of residents had severe contractures involving all 4 limbs. Moreover, there were a significant proportion of residents who had severe limb spasticity with the elbow flexors (32.4%) and knee flexors (33.9%) being the most commonly involved muscles. Twelve residents (3%) suffered from subsequent MTF over a median follow-up of 33 (SD = 30) months. Seven out of these 12 residents died during the follow-up period, with a mean survival of 17.8 months (SD = 12.6) after the fracture event. The following 2 factors were found to independently predict subsequent MTF in a multivariate Cox regression: bilateral severe spastic knee contractures (hazard ratio = 16.5, P contractures are common morbidities in long-term care residents

Serial casting versus stretching technique to treat knee flexion contracture in children with spina bifida: a comparative study.

Science.gov (United States)

Al-Oraibi, S; Tariah, Hashem Abu; Alanazi, Abdullah

2013-01-01

Severe knee contractures that develop soon after muscle imbalance may not improve with stretching exercises and splinting. An alternative treatment is serial casting, which has been used to promote increased range of motion. The purpose of this study was to compare the effectiveness of using serial casting and passive stretching approaches to treat knee flexion contracture in children with spina bifida. In a pre/post randomized controlled study, ten participants were included in the serial casting group, while eight participants were included in the passive stretching intervention group. The degree of knee extension was measured at baseline, immediately after intervention, and at a one-year follow-up using a standard goniometer. Both groups showed significant improvements in the degree of flexion contracture at the post-treatment evaluation and the follow-up evaluation. The serial casting group showed significant improvements in knee flexion contracture at the post-treatment evaluation, t (9)=13.4, p casting group compared with passive stretching group in relation to the degree of flexion contracture were found at the immediate post-treatment evaluation, F(1, 15)=246, p=0.0001, and the one-year follow-up evaluation, F (1, 15)=51.5, p=0.0001. The outcomes of this study provide the first evidence that serial casting may be a useful intervention in treating knee flexion contracture in children with spina bifida. However, further investigations into serial casting, as well as investigations into the use of serial casting with other interventions, are warranted.

Injection-induced gluteus muscle contractures: diagnosis with the "reverse Ober test" and surgical management.

Science.gov (United States)

Scully, William F; White, Klane K; Song, Kit M; Mosca, Vincent S

2015-03-01

Adoption rates are increasing in the United States and other developed countries. A large proportion of adopted children have been found to have unsuspected medical diagnoses, including orthopedic problems. One condition, termed injection-induced gluteus maximus contracture, has been previously described in several case series and can be difficult to diagnose if unfamiliar with this condition. By reviewing the etiology and pathoanatomy of this problem, as well as the typical examination findings, including the near-pathognomonic-positive "reverse Ober test," treating providers will be better prepared to recognize and properly treat this condition. This is a retrospective review of 4 patients treated at our institution for injection-induced gluteus maximus contracture. Patient history, physical examination findings, and treatment outcomes were recorded. All had undergone surgical treatment through a longitudinal incision along the posterior margin of the iliotibial band, with division of thickened, contracted gluteus tissue down to the ischial tuberosity. All 4 of the patients were adopted from orphanages in developing countries. Chief complaints of the patients varied, but physical examination findings were very consistent. Three of the 4 patients had undergone rotational osteotomies for presumed femoral retroversion before their diagnosis and treatment for injection-induced gluteus maximus contracture. All patients had concave, atrophic buttock contours and numerous punctate buttock scars. All walked with an out-toed gait and had marked apparent femoral retroversion. Each patient was found to have full hip adduction when the hip was extended but a hip abduction contracture when the hip was flexed. This finding of increasing abduction as an extended/adducted hip is flexed to 90 degrees is described as a positive "reverse Ober test." After surgical treatment, all hips could adduct to neutral from full extension to full flexion. Although common in some countries

Bladder Contracture – A Rare and Serious Side Effect of Intravesical Bacillus Calmette-Guérin Therapy

Directory of Open Access Journals (Sweden)

Cindy Garcia

2016-01-01

Full Text Available Instillation of intravesical bacillus Calmette-Guérin (BCG is an effective treatment for non-muscle invasive bladder cancer (NMIBC. The high incidence of side effects may limit its tolerability in patients. Local side effects including cystitis and hematuria are common but generally self-limiting. Bladder contractures are a rare but serious consequence of BCG treatment. In this case, an 82 year-old male developed BCG reactivation and subsequent bladder contractures following transurethral resection of the prostate (TURP three years post-BCG. To our knowledge, this is the first reported case of BCG reactivation post-TURP leading to the rare but serious effect of bladder contractures.

Simultaneous bilateral contracture of the infraspinatus muscle.

Science.gov (United States)

Franch, J; Bertran, J; Remolins, G; Fontecha, P; Díaz-Bertrana, M C; Durall, I

2009-01-01

A case of bilateral fibrotic contracture of the infraspinatus muscles in a five-year-old Belgian Shepherd dog is described. The dog was presented with progressive forelimb lameness with postural and gait abnormalities three months after an episode of overexertion. When walking, the lower part of both forelimbs swung in a lateral arc causing a circumduction movement and in the standing position, the dog showed elbow adduction with external rotation of the distal part of both front limbs. Orthopaedic examination revealed bilateral atrophy of both infraspinatus and supraspinatus muscles and restriction in the range of motion of both shoulders, especially when attempting abduction and flexion. No specific findings were observed in the shoulder or elbow radiographs but hyperechogenic areas were evident in the ultrasonographic examination of both infraspinatus muscles. A diagnosis of fibrotic contracture of both infraspinatus muscles was established and bilateral tenectomy of the insertion tendons of the infraspinatus muscles was performed. Complete recovery of the animal was achieved after the surgery, which was confirmed in a long-term follow-up (10 months). In conclusion, physical examination and ultrasonography allowed a proper diagnosis of the condition, and tenectomy of the infraspinatus muscles resulted in a complete recovery of the patient even with bilateral involvement.

Nociception contributes to the formation of myogenic contracture in the early phase of adjuvant-induced arthritis in a rat knee.

Science.gov (United States)

Kaneguchi, Akinori; Ozawa, Junya; Moriyama, Hideki; Yamaoka, Kaoru

2017-07-01

It is unknown how joint contracture is generated in inflamed joints. This study aimed to clarify the role of nociception on the formation of joint contracture secondary to arthritis. Monoarthritis was induced by intra-articular injections of complete Freund's adjuvant (CFA) into rat knees. On day 5 after CFA injection, the passive extension range of motion (ROM) of knee joints were measured, both before and after myotomy of knee flexors, to evaluate the extent of muscular contribution to CFA-induced joint contracture. The steroidal anti-inflammatory drug dexamethasone could prevent ROM restrictions completely, both before and after myotomy. On the other hand, the opioid analgesic drug morphine did not prevent the development of restricted ROM observed after myotomy, while it did before myotomy. This indicates that nociception contributes to joint contracture through alterations in muscular structure (myogenic factors). Next, we tested the hypothesis that nociception-induced reflexive flexor muscle contractions cause myogenic contracture in arthritic joints. To do this, chemical denervation was performed by Botulinum toxin type A (BTX-A) injections into knee flexor muscles, simultaneously with CFA injections into the knee. As expected, BTX-A could alleviate ROM restrictions observed before myotomy. These findings suggest that nociceptive-related muscle contractions play an essential role in the formation of joint contracture. Thus, our study indicates that analgesic management during an early stage of joint arthritis is an essential mean to prevent the formation of joint contracture. © 2016 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 35:1404-1413, 2017. © 2016 Orthopaedic Research Society. Published by Wiley Periodicals, Inc.

Assessment and affects hamstrings contracture on the formation of posture defects in children of preschool age

Directory of Open Access Journals (Sweden)

Magda Kucharczuk-Kopycińska

2016-12-01

Results. Executed tests shown that 47,5% from examined group of children have fault posture. Occurrence of hamstrings contracture, which was diagnosed in 40%, disrupts pelvis balance causing oblique position of pelvis. Conclusion. 1. Posture faults are major problem in our population. During examination near half of the group possessed at least one of the fault posture. 2. Hamstrings contracture disrupts pelvis balance causing oblique position of pelvis. Further it leads to increase frequency of fault posture. 3. Proper rehabilitation can prevent hamstring contracture, in advance prevents also occurrence of fault posture. 4. Rehabilitation study, in which analysis of specified anthropometric points and a few functional tests will be a component, can detect and correct diagnose fault posture among children.

Simulating the effect of muscle weakness and contracture on neuromuscular control of normal gait in children.

Science.gov (United States)

Fox, Aaron S; Carty, Christopher P; Modenese, Luca; Barber, Lee A; Lichtwark, Glen A

2018-03-01

Altered neural control of movement and musculoskeletal deficiencies are common in children with spastic cerebral palsy (SCP), with muscle weakness and contracture commonly experienced. Both neural and musculoskeletal deficiencies are likely to contribute to abnormal gait, such as equinus gait (toe-walking), in children with SCP. However, it is not known whether the musculoskeletal deficiencies prevent normal gait or if neural control could be altered to achieve normal gait. This study examined the effect of simulated muscle weakness and contracture of the major plantarflexor/dorsiflexor muscles on the neuromuscular requirements for achieving normal walking gait in children. Initial muscle-driven simulations of walking with normal musculoskeletal properties by typically developing children were undertaken. Additional simulations with altered musculoskeletal properties were then undertaken; with muscle weakness and contracture simulated by reducing the maximum isometric force and tendon slack length, respectively, of selected muscles. Muscle activations and forces required across all simulations were then compared via waveform analysis. Maintenance of normal gait appeared robust to muscle weakness in isolation, with increased activation of weakened muscles the major compensatory strategy. With muscle contracture, reduced activation of the plantarflexors was required across the mid-portion of stance suggesting a greater contribution from passive forces. Increased activation and force during swing was also required from the tibialis anterior to counteract the increased passive forces from the simulated dorsiflexor muscle contracture. Improvements in plantarflexor and dorsiflexor motor function and muscle strength, concomitant with reductions in plantarflexor muscle stiffness may target the deficits associated with SCP that limit normal gait. Copyright © 2018 Elsevier B.V. All rights reserved.

Reconstruction of cervical scar contracture using axial thoracic flap based on the thoracic branch of the supraclavicular artery.

Science.gov (United States)

Ma, Xianjie; Li, Yang; Wang, Lu; Li, Weiyang; Dong, Liwei; Xia, Wei; Su, Yingjun

2014-09-01

Cervical scar contracture causes both physical and psychological distress for burn patients. Many pedicle flaps or skin grafting have been suggested for reconstruction of cervical scar contracture with variable results in the literature. The authors present the axial thoracic flap based on the thoracic branch of the supraclavicular artery (TBSA) for reconstruction of cervical scar contracture. Postburn scar contractures in anterior neck region of 66 patients had been reconstructed with the axial pattern thoracic flaps based on the TBSA, including 1 expanded and 10 nonexpanded pedicle flaps, and 9 expanded and 46 nonexpanded island pedicle flaps, during 1988 through 2012. After removing and releasing the cervical scar contracture, the flap was designed in the thoracic region. The axial artery of the flap is the TBSA bifurcating from the intersection point of sternocleidomastoid muscle and omohyoid muscle with several concomitant veins as the axial veins. The flap can be designed in a large area within the borders of the anterior border of the trapezius muscle superiorly, the middle part of the deltoid muscle laterally, the midsternal line medially, and the level 3 to 4 cm below nipples inferiorly. After incisions were made along the medial, inferior, and lateral border, dissection was performed toward the pedicle. Donor site was closed directly in expanded cases and with skin grafting in nonexpanded cases. Cervical scar contractures were repaired with good functional and cosmetic results in 64 cases among this cohort. Flap tip necrosis in other 2 cases, caused by postoperative hematoma, was repaired by skin grafting. The color and texture of all flaps were fitted with those of the surrounding skin. The donor sites all healed primarily. The flap sensation in the thoracic region regained in the early stage postoperatively and that in cervical area recovered completely after 6 months according to the report of the patients. With reliable blood supply based on the

Feasibility of an Exoskeleton-Based Interactive Video Game System for Upper Extremity Burn Contractures.

Science.gov (United States)

Schneider, Jeffrey C; Ozsecen, Muzaffer Y; Muraoka, Nicholas K; Mancinelli, Chiara; Della Croce, Ugo; Ryan, Colleen M; Bonato, Paolo

2016-05-01

Burn contractures are common and difficult to treat. Measuring continuous joint motion would inform the assessment of contracture interventions; however, it is not standard clinical practice. This study examines use of an interactive gaming system to measure continuous joint motion data. To assess the usability of an exoskeleton-based interactive gaming system in the rehabilitation of upper extremity burn contractures. Feasibility study. Eight subjects with a history of burn injury and upper extremity contractures were recruited from the outpatient clinic of a regional inpatient rehabilitation facility. Subjects used an exoskeleton-based interactive gaming system to play 4 different video games. Continuous joint motion data were collected at the shoulder and elbow during game play. Visual analog scale for engagement, difficulty and comfort. Angular range of motion by subject, joint, and game. The study population had an age of 43 ± 16 (mean ± standard deviation) years and total body surface area burned range of 10%-90%. Subjects reported satisfactory levels of enjoyment, comfort, and difficulty. Continuous joint motion data demonstrated variable characteristics by subject, plane of motion, and game. This study demonstrates the feasibility of use of an exoskeleton-based interactive gaming system in the burn population. Future studies are needed that examine the efficacy of tailoring interactive video games to the specific joint impairments of burn survivors. Copyright © 2016 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

The Time Course of the Loss and Recovery of Contracture Ability in Frog Striated Muscle Following Exposure to Ca-Free Solutions

Science.gov (United States)

Milligan, J. V.

1965-01-01

Using area under the contracture curve to quantitate contractures, the diffusion coefficient of calcium ions within the frog toe muscle during washout in a calcium-free solution and subsequent recovery after reintroduction of calcium to the bathing solution was calculated to be about 2 x 10-6 cm2/sec. The diffusion coefficient measured during washout was found to be independent of temperature or initial calcium ion concentration. During recovery it was found to decrease if the temperature was lowered. This was likely due to the repolarization occurring after the depolarizing effect of the calcium-free solution. The relation between contracture area and [Ca]o was found to be useful over a wider range than that between maximum tension and [Ca]o. The normalized contracture areas were larger at lower calcium concentrations if the contractures were produced with cold potassium solutions or if NO3 replaced Cl in the bathing solutions. Decreasing the potassium concentration of the contracture solution to 50 mM from 115 mM did not change the relation between [Ca]o and the normalized area. If the K concentration of the bathing solution was increased, the areas were decreased at lower concentrations of Ca. PMID:14324991

Treatable Bedridden Elderly―Recovery from Flexion Contracture after Cortisol Replacement in a Patient with Isolated Adrenocorticotropic Hormone Deficiency

Science.gov (United States)

Tanaka, Takamasa; Terada, Norihiko; Fujikawa, Yoshiki; Fujimoto, Takushi

2016-01-01

Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disorder with diverse clinical presentations. A 79-year-old man was bedridden for six months due to flexion contractures of the bilateral hips and knees, along with hyponatremia. He was diagnosed with IAD based on the results of endocrine tests. After one month of corticosteroid replacement, he recovered and was able to stand up by himself. Although flexion contracture is a rare symptom of IAD, steroid replacement therapy may be effective, even for seemingly irreversibly bedridden elderly patients. In bedridden elderly patients with flexion contractures, we should consider and look for any signs of adrenal insufficiency. PMID:27746435

Treatable Bedridden Elderly -Recovery from Flexion Contracture after Cortisol Replacement in a Patient with Isolated Adrenocorticotropic Hormone Deficiency.

Science.gov (United States)

Tanaka, Takamasa; Terada, Norihiko; Fujikawa, Yoshiki; Fujimoto, Takushi

Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disorder with diverse clinical presentations. A 79-year-old man was bedridden for six months due to flexion contractures of the bilateral hips and knees, along with hyponatremia. He was diagnosed with IAD based on the results of endocrine tests. After one month of corticosteroid replacement, he recovered and was able to stand up by himself. Although flexion contracture is a rare symptom of IAD, steroid replacement therapy may be effective, even for seemingly irreversibly bedridden elderly patients. In bedridden elderly patients with flexion contractures, we should consider and look for any signs of adrenal insufficiency.

Dupuytren’s contracture of hand and its medical and social review

Directory of Open Access Journals (Sweden)

V. O. Vishnevskiy

2014-02-01

Full Text Available Introduction Dupuytren's contracture is a disease of connective tissue with the affection of palmar aponeurosis, frequently with chronic recurrent course, the flexion deformities of fingers and dysfunction of the hand. It composed 11,8 % among of all types of the hand pathology. The mostly it develops in men of middle-aged and elderly. At young age it occurs more rarely, but with fast progressing current, which in 67 % of cases leads to impaired ability to perform professional hand-work and in 3 % patients to physical inability. Predisposing factors for this fibromatosis are numerous, but one of the popular opinion among of authors is a hereditary character of disease. In clinical practice, the most frequently used fourth degree’s classification of Dupuytren's contracture includes severity of deformation and function disorders of the hand. It is correspond to the normative standards of medical and social expertise The aim of research: to specify the most optimal methods of surgical treatment, the criteria of medical and social examination and rehabilitation, clinical and labor prognosis, indications to establishment of disability after operations concerning of Dupuytren’s contracture. In our clinic was performed three methods of operation: aponeurotomia “open hand”, partial aponeuroectomia, total aponeuroectomia. Errors in the treatment of palmar fibromatosis we shared on: preoperated, intraoperated and associated with violations of the mode of rehabilitation. The next clinical observation of 68 patients (up to 3 years after surgery with Dupuytren’s contracture of hand showed the recurrence rate amounted to 31,7%, and physical inability level is 5,9% of cases. In our opinion the most optimal operative methodic is total aponeuroectomia with rational surgical approaches. Clinical and labour prognosis depends on the manifestations of disease which can develop regardless of the stage, methods of treatment and patient's age. Disadvantageous

Lethal Congenital Malformations in Fetuses-Antenatal Ultrasound or Perinatal Autopsy.

Science.gov (United States)

Grover, Sumit; Garg, Bhavna; Sood, Neena; Arora, Kamaldeep

2017-06-01

Congenital malformations (CMF) are major causes of fetal demise which can be detected antenatally by Ultrasonography (USG). We studied 100 perinatal autopsies for CMF. Sensitivity of USG was determined and accuracy of USG with that of autopsy was compared. At Autopsy 134 individual CMF were seen in 40 cases. The sensitivity of USG in detecting major CMF was 54.47%. A complete agreement between autopsy and USG findings was seen in 13/40 (32.5%) and partial agreement in 17/40 (42.5%) fetuses while autopsy completely changed antenatal diagnosis in 10/40 (25%) fetuses. Major findings were added in all 17 fetuses with partial agreement. In 2 cases, CMF suspected on USG were not detected on autopsy due to fetal maceration. Autopsy significantly adds to the prenatal USG diagnosis and may help in predicting the probability of recurrence, and thus counseling the affected couple to prevent any such future event.

Do textured breast implants decrease the rate of capsular contracture compared to smooth implants?

Science.gov (United States)

Cifuentes, Ignacio; Dagnino, Bruno; Rada, Gabriel

2017-08-31

The use of breast implants for aesthetic and reconstructive purposes has become one of the most common procedures performed by plastic surgeons. Several breast implants models exist. They differ in their size, filling, shape and characteristic of the shell, which can be smooth or textured. Capsular contracture is one of the main complications of breast implants. It has been suggested that the use of textured implants could reduce the incidence of capsular contracture. To answer this question, we used Epistemonikos, the largest database of systematic reviews in health, which is maintained by screening multiple information sources, including MEDLINE, EMBASE, Cochrane, among others. We identified 15 studies overall, of which 13 were randomized trials relevant for the question of interest. We extracted data from the systematic reviews, reanalyzed data of primary studies, conducted a meta-analysis and generated a summary of findings table using the GRADE approach. We concluded the use of textured breast implants probably decreases the risk of capsular contracture, however, they might be associated to an increased risk of anaplastic large cell lymphoma.

An unusual case of rapidly progressive contractures: Case report and brief review

Directory of Open Access Journals (Sweden)

Subasree R

2008-01-01

Full Text Available An 8-year-old boy, diagnosed as cervical dystonia, was referred to our tertiary center. After a trivial trauma he had developed painful lumps in the axial region, which was followed by restricted movements of neck, shoulder, and abdominal muscles over 4 months. He had kyphoscoliosis, torticollis, rigid abdomen, and multiple muscle contractures. He also had short great toes. A detailed skeletal survey showed calcification in the soft tissues surrounding the shoulder anterior chest wall, thorax, and paraspinal muscles; there was also beaking of vertebrae, which was confirmed by CT thorax. This report showcases the diagnostic challenge posed by myositis ossificans progressiva, which can rarely cause rapidly progressing muscle contractures. A brief review of literature is also presented.

Predictors for success of internal urethrotomy in patients with urethral contracture following perineal repair of pelvic fracture urethral injuries.

Science.gov (United States)

Hong, Young-Kwon; Choi, Kyung-Hwa; Lee, Young-Tae; Lee, Seung-Ryeol

2017-05-01

Internal urethrotomy (IU) in patients with urethral contracture following perineal repair of pelvic fracture urethral injuries (PRPFUI) is troublesome. We evaluated the clinical factors affecting the surgical outcome of IU for urethral contracture after PRPFUI. We retrospectively reviewed the records of 35 patients who underwent IU for urethral contracture after PRPFUI between March 2004 and June 2013. Ages of patients ranged from 18 to 50, and their follow-up duration was more than 1year after IU. The urethral contracture was confirmed by retrograde urethrogram or cysto-urethroscopy. Success was defined as greater than 15mL/s of peak urinary flow rate at 1year after IU without any clinical evidence of urethral contracture. Success rates were investigated according to the number of IU. Age, body mass index, urethral defect length before PRPFUI, time interval between the original urethral injury and the PRPFUI or between a previous operation and the PRPFUI, time interval between the PRPFUI and the urethral contracture, number of PRPFUI performed, and the type of urethral lengthening procedure were compared between patients with and without success according to the number of IU. Among the 35 patients, the overall success rate of IU was 37% (13/35) during the mean follow-up period of 53 months (range: 17-148 months). There were 8 and 5 patients with success in first and second IU, respectively. However, there was no success after third IU. Urethral defect length before PRPFUI was significantly shorter in patients with success who underwent first and second IU (p<0.05). There were significant differences of success between patients with and without previous repeated failures of PRPFUI in first and second IU (p<0.05). Short urethral defect length and no previous surgical failures before PRPFUI are good prognostic factors for IU following PRPFUI. Only one or two IUs will be helpful in patients with urethral contracture following PRPFUI. Copyright © 2017 Elsevier Ltd

Electrophysiological and histological changes in extrinsic muscles proximal to post burn contractures of hand.

Science.gov (United States)

Bhattacharya, V; Purwar, Shammi; Joshi, D; Kumar, M; Mandal, S; Chaudhuri, G R; Bhattacharya, S

2011-06-01

Burn scar hand contractures of variable degree are frequently encountered. Although the forearm is apparently spared, it was clinically observed that there was disuse atrophy in the unburnt extrinsic forearm muscles. Usually the clinicians do not give much importance to this fact. The girth at the midforearm was significantly reduced as compared to normal side. The flexion of the hand joints are governed by two components (a) intrinsic and (b) extrinsic muscles. The intrinsic muscles are directly involved in the contracted tissue. Therefore it was thought essential to evaluate the extrinsic group of muscles for their contribution in the final functional recovery following corrective surgery. Thirty patients having unilateral post thermal burn contracture sparing forearm were studied. A detailed clinical evaluation was made including grade of contracture and reduction in the forearm girth. The forearm unburnt muscles were evaluated by preoperative electrophysiological studies. Intraoperative biopsies were taken from these muscles for histopathological examination. On histopathological examination, there were significant abnormal changes in the form of muscle fiber atrophy, fibrolipomatous tissue replacement of atrophic muscle fibers and sarcolemmal changes. These changes were directly proportional to the severity of contractures. The electrophysiological studies showed proportionate changes in the form of reduction in amplitude, duration and interference. This study suggests that if these changes are mild and in reversible stage, they will favourably affect the functional recovery following surgery. However if these changes are of severe grade and irreversible, in spite of adequate surgery, splinting and physiotherapy, the functional recovery may not be complete. Copyright © 2011 Elsevier Ltd and ISBI. All rights reserved.

Multidisciplinary conservative management in classical Volkmann's contracture: A case report

NARCIS (Netherlands)

Reinders, M.F.; Geertzen, J.H.B.; Eisma, W.H.

1996-01-01

This clinical note describes the case of a nine-year-old girl with classical Volkmann's contracture of the left forearm. The report demonstrates the results and follow-up of conservative orthotic management used as a mode of treatment by a multidisciplinary team. When using an orthosis it is

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

Science.gov (United States)

Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Csáky-Szunyogh, Melinda; de Walle, Hermien E K; Dias, Carlos Matias; Draper, Elizabeth; Gatt, Miriam; Garne, Ester; Haeusler, Martin; Källén, Karin; Latos-Bielenska, Anna; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O’Mahony, Mary; Queisser-Wahrendorf, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Wreyford, Ben; Zymak-Zakutnia, Natalia; Dolk, Helen

2018-01-01

Objective To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. Design, setting and outcome measures EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks’ gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005–2009, and infant mortality (deaths of live births at age congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. Conclusions By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention. PMID:28667189

Phorbol 12,13-dibutyrate-induced protein kinase C activation triggers sustained contracture in human myometrium in vitro.

Science.gov (United States)

Massenavette, Laurence; Paul, Wilène; Corriveau, Stéphanie; Pasquier, Jean-Charles; Rousseau, Éric

2017-09-01

Although physiologic transition from rhythmic contractions to uterine retraction postpartum remains a poorly understood process, it has been shown that the latter is essential in the prevention of hemorrhage and its negative consequences. To investigate the transition from oscillatory contractions to tonic contracture in human myometrium after delivery, a mechanism purported to facilitate postpartum hemostasis. Protein kinase C (PKC) plays a key regulatory role in human uterine contractions because it can prevent dephosphorylation of regulatory proteins and sensitize the contractile machinery to low Ca 2+ . Thus, activation of PKC by phorbol 12,13-dibutyrate (PDBu) may act as a strong uterotonic agent. Uterine biopsies were obtained from consenting women undergoing elective caesarian delivery at term without labor (N = 19). Isometric tension measurements were performed on uterine strips (n = 114). The amplitudes and area under the curve of phasic contractions and tonic responses were measured and compared. A total of 1 μM PDBu was added to the isolated organ baths, and maximal tension of the uterine contracture was determined in the absence and presence of either 1 μM of staurosporine, 100 nM nifedipine, or 10 μM cyclopiazonic acid to assess the role of PKC and calcium sensitivity on uterine contractility. On the addition of PDBu on either basal or oxytocin-induced activity, consistent contractures were obtained concomitant with complete inhibition of phasic contractions. After a 30-minute incubation period, the mean amplitude of the PDBu-induced tone represented 65.3% of the amplitude of spontaneous contraction. Staurosporine, a protein kinase inhibitor, induced a 91.9% inhibition of PDBu contractures, a process not affected by nifedipine or cyclopiazonic acid, thus indicating that this mechanism is largely Ca 2+ independent. Pharmacologic activation of PKC leads to a significant contracture of the myometrium. Together, these data suggest that the up

[Congenital heart disease mortality in Spain during a 10 year period (2003-2012)].

Science.gov (United States)

Pérez-Lescure Picarzo, Javier; Mosquera González, Margarita; Latasa Zamalloa, Pello; Crespo Marcos, David

2018-05-01

Congenital heart disease is a major cause of infant mortality in developed countries. In Spain, there are no publications at national level on mortality due to congenital heart disease. The aim of this study is to analyse mortality in infants with congenital heart disease, lethality of different types of congenital heart disease, and their variation over a ten-year period. A retrospective observational study was performed to evaluate mortality rate of children under one year old with congenital heart disease, using the minimum basic data set, from 2003 to 2012. Mortality rate and relative risk of mortality were estimated by Poisson regression. There were 2,970 (4.58%) infant deaths in a population of 64,831 patients with congenital heart disease, with 73.8% of deaths occurring during first week of life. Infant mortality rate in patients with congenital heart disease was 6.23 per 10,000 live births, and remained constant during the ten-year period of the study, representing 18% of total infant mortality rate in Spain. The congenital heart diseases with highest mortality rates were hypoplastic left heart syndrome (41.4%), interruption of aortic arch (20%), and total anomalous pulmonary drainage (16.8%). Atrial septal defect (1%) and pulmonary stenosis (1.1%) showed the lowest mortality rate. Congenital heart disease was a major cause of infant mortality with no variations during the study period. The proportion of infants who died in our study was similar to other similar countries. In spite of current medical advances, some forms of congenital heart disease show very high mortality rates. Copyright © 2017 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Safe method for release of severe post burn neck contracture under tumescent local anaesthesia and ketamine

Directory of Open Access Journals (Sweden)

Agarwal Pawan

2004-01-01

Full Text Available Severe post burn neck contracture results in difficult intubation, which can be life threatening and can result in multiple serious complications and sequels. Thirty patients with age ranging from 12 to 50 years were operated under local tumescent anesthesia supplemented with intravenous ketamine for release of post burn neck contracture and split skin grafted. This technique obviates the need for endotracheal intubation. There were no complications attributed to this anesthesia technique. There was no graft loss and blood loss was minimal.

A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.

Science.gov (United States)

Li, Xuefu; Jiang, Miao; Han, Weitian; Zhao, Ning; Liu, Wei; Sui, Yu; Lu, Yongping; Li, Jianxin

2013-09-25

Distal arthrogryposes (DAs), a clinically and genetically heterogeneous group of disorders characterized by congenital contractures with predominant involvement of the hands and feet, can be classified into at least 12 different forms. These autosomal dominant disorders are of variable expressivity and reduced penetrance. Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). However, mutations causing FSS have only been reported in MYH3. Herein we describe a Chinese DA family whose members meet classical strict criteria for FSS, as well as one member of the family who has isolated facial features consistent with FSS. No disease-causing mutation was found in MYH3. Segregation of microsatellite markers flanking the TNNI2 and TNNT3 genes at 11p15.5 was compatible with linkage. Subsequent sequencing of TNNI2 revealed a novel mutation, c.A493T (p.I165F), located in the C-terminal region, which is critical for proper protein function. This mutation was found to cosegregate with the FSS phenotype in this family, and assessment using SIFT and PolyPhen-2 predicted a damaging effect. To the best of our knowledge, we report the first TNNI2 mutation in classical FSS and describe an atypical adult FSS case with only facial contractures resulting from somatic mosaicism. We infer that DA1, DA2B and FSS represent a phenotypic continuum of the same disorder and provide further genetic evidence for this hypothesis. © 2013.

Hamstring contractures in children with spastic cerebral palsy result from a stiffer extracellular matrix and increased in vivo sarcomere length.

Science.gov (United States)

Smith, Lucas R; Lee, Ki S; Ward, Samuel R; Chambers, Henry G; Lieber, Richard L

2011-05-15

Cerebral palsy (CP) results from an upper motoneuron (UMN)lesion in the developing brain. Secondary to the UMNl esion,which causes spasticity, is a pathological response by muscle - namely, contracture. However, the elements within muscle that increase passive mechanical stiffness, and therefore result in contracture, are unknown. Using hamstring muscle biopsies from pediatric patients with CP (n =33) and control (n =19) patients we investigated passive mechanical properties at the protein, cellular, tissue and architectural levels to identify the elements responsible for contracture. Titin isoform, the major load-bearing protein within muscle cells, was unaltered in CP. Correspondingly, the passive mechanics of individual muscle fibres were not altered. However, CP muscle bundles, which include fibres in their constituent ECM, were stiffer than control bundles. This corresponded to an increase in collagen content of CP muscles measured by hydroxyproline assay and observed using immunohistochemistry. In vivo sarcomere length of CP muscle measured during surgery was significantly longer than that predicted for control muscle. The combination of increased tissue stiffness and increased sarcomere length interact to increase stiffness greatly of the contracture tissue in vivo. These findings provide evidence that contracture formation is not the result of stiffening at the cellular level, but stiffening of the ECM with increased collagen and an increase of in vivo sarcomere length leading to higher passive stresses.

Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures

NARCIS (Netherlands)

Helderman-van den Enden, A. T. J. M.; Ginjaar, H. B.; Kneppers, A. L. J.; Bakker, E.; Breuning, M. H.; de Visser, M.

2003-01-01

We describe a patient with somatic mosaicism of a point mutation in the dystrophin gene causing benign muscular dystrophy with an unusual asymmetrical distribution of muscle weakness and contractures. To our knowledge this is the first patient with asymmetrical weakness and contractures in an

Congenital skeletal malformations and cleft palate induced in goats by ingestion of Lupinus, Conium and Nicotiana species.

Science.gov (United States)

Panter, K E; Keeler, R F; Bunch, T D; Callan, R J

1990-01-01

Three piperidine alkaloid containing plants, Conium maculatum (poison-hemlock), Nicotiana glauca (tree tobacco) and Lupinus formosus (lunara lupine), induced multiple congenital contractures (MCC) and palatoschisis in goat kids when their dams were gavaged with the plant during gestation days 30-60. The skeletal abnormalities included fixed extension or flexure of the carpal, tarsal, and fetlock joints, scoliosis, lordosis, torticollis and rib cage abnormalities. Clinical signs of toxicity included those reported in sheep, cattle and pigs--ataxia, incoordination, muscular weakness, prostration and death. One quinolizidine alkaloid containing plant, Lupinus caudatus (tailcup lupine), on the other hand, which is also known to cause MCC in cows, caused only slight signs of toxicity in pregnant goats and no teratogenic effects in their offspring.

Effect of lethal and sub-lethal concentrations of tobacco (Nicotiana ...

African Journals Online (AJOL)

Lethal and sub-lethal bioassays on Clarias gariepinus were conducted to evaluate the toxicity of tobacco (Nicotiana tobaccum) leaf dust on weight gain and haematological indices of Clarias gariepinus (mean weight 10.5±0.70g) in glass aquaria with aeration system. The concentrations used during the lethal exposure are: ...

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data.

Science.gov (United States)

Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Csáky-Szunyogh, Melinda; de Walle, Hermien E K; Dias, Carlos Matias; Draper, Elizabeth; Gatt, Miriam; Garne, Ester; Haeusler, Martin; Källén, Karin; Latos-Bielenska, Anna; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O'Mahony, Mary; Queisser-Wahrendorf, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Wreyford, Ben; Zymak-Zakutnia, Natalia; Dolk, Helen

2018-01-01

To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks' gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005-2009, and infant mortality (deaths of live births at age congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Transverse musculocutaneous gracilis flap for treatment of capsular contracture in tertiary breast reconstruction.

Science.gov (United States)

Pülzl, Petra; Huemer, Georg M; Schoeller, Thomas

2015-02-01

Capsular contracture is a common complication associated with implant-based breast reconstruction and augmentation leading to pain, displacement, and rupture. After capsulectomy and implant exchange, the problem often reappears. We performed 52 deepithelialized free transverse musculocutaneous gracilis (TMG) flaps in 33 patients for tertiary breast reconstruction or augmentation of small- and medium-sized breasts. The indications for implant removal were unnatural feel and emotion of their breasts with foreign body feel, asymmetry, pain, and sensation of cold. Anyway, most of the patients did not have a severe capsular contracture deformity. The TMG flap is formed into a cone shape by bringing the tips of the ellipse together. Depending on the contralateral breast, the muscle can also be shaped in an S-form to get more projection if needed. The operating time for unilateral TMG flap breast reconstruction or augmentation was on average 3 hours and for bilateral procedure 5 hours. One patient had a secondary revision of the donor site due to disruption of the normal gluteal fold. Eighty percent of the unilateral TMG flap reconstructions had a lipofilling procedure afterward to correct small irregularities or asymmetry. The advantages of the TMG flap such as short harvesting time, inconspicuous donor site, and the possibility of having a natural breast shape make it our first choice to treat capsular contracture after breast reconstruction and augmentation.

The congenital long QT syndrome Type 3: An update

Directory of Open Access Journals (Sweden)

Andrés Ricardo Pérez-Riera

2018-01-01

Full Text Available Congenital long QT syndrome type 3 (LQT3 is the third in frequency compared to the 15 forms known currently of congenital long QT syndrome (LQTS. Cardiac events are less frequent in LQT3 when compared with LQT1 and LQT2, but more likely to be lethal; the likelihood of dying during a cardiac event is 20% in families with an LQT3 mutation and 4% with either an LQT1 or an LQT2 mutation. LQT3 is consequence of mutation of gene SCN5A which codes for the Nav1.5 Na+ channel α-subunit and electrocardiographically characterized by a tendency to bradycardia related to age, prolonged QT/QTc interval (mean QTc value 478 ± 52 ms, accentuated QT dispersion consequence of prolonged ST segment, late onset of T wave and frequent prominent U wave because of longer repolarization of the M cell across left ventricular wall.

Early results of surgical intervention for elbow deformity in cerebral palsy based on degree of contracture.

Science.gov (United States)

Carlson, Michelle G; Hearns, Krystle A; Inkellis, Elizabeth; Leach, Michelle E

2012-08-01

Elbow flexion posture, caused by spasticity of the muscles on the anterior surface of the elbow, is the most common elbow deformity seen in patients with cerebral palsy. This study retrospectively evaluated early results of 2 surgical interventions for elbow flexion deformities based on degree of contracture. We hypothesized that by guiding surgical treatment to degree of preoperative contracture, elbow extension and flexion posture angle at ambulation could be improved while preserving maximum flexion. Eighty-six patients (90 elbows) were treated for elbow spasticity due to cerebral palsy. Seventy-one patients (74 elbows) were available for follow-up. Fifty-seven patients with fixed elbow contractures less than 45° were surgically treated with a partial elbow muscle lengthening, which included partial lengthening of the biceps and brachialis and proximal release of the brachioradialis. Fourteen patients (17 elbows) with fixed elbow contractures ≥ 45° had a more extensive full elbow release, with biceps z-lengthening, partial brachialis myotomy, and brachioradialis proximal release. Age at surgery averaged 10 years (range, 3-20 y) for partial lengthening and 14 years (range, 5-20 y) for full elbow release. Follow-up averaged 22 months (range, 7-144 mo) for partial lengthening and 18 months (range, 6-51 mo) for full elbow release. Both groups achieved meaningful improvement in flexion posture angle at ambulation, active and passive extension, and total range of motion. Elbow flexion posture angle at ambulation improved by 57° and active extension increased 17° in the partial lengthening group, with a 4° loss of active flexion. In the full elbow release group, elbow flexion posture angle at ambulation improved 51° and active extension improved 38°, with a loss of 19° of active flexion. Surgical treatment of spastic elbow flexion in cerebral palsy can improve deformity. We obtained excellent results by guiding the surgical intervention by the amount of

First Colombian multicentric newborn screening for congenital toxoplasmosis.

Directory of Open Access Journals (Sweden)

Jorge Enrique Gómez-Marin

Full Text Available AIMS: To determine the incidence of congenital toxoplasmosis in Colombian newborns from 19 hospital or maternal child health services from seven different cities of five natural geographic regions (Caribbean, Central, Andean, Amazonia and Eastern. MATERIALS AND METHODS: We collected 15,333 samples from umbilical cord blood between the period of March 2009 to May 2010 in 19 different hospitals and maternal-child health services from seven different cities. We applied an IgM ELISA assay (Vircell, Spain to determine the frequency of IgM anti Toxoplasma. The results in blood cord samples were confirmed either by western blot and repeated ELISA IgM assay. In a sub-sample of 1,613 children that were negative by the anti-Toxoplasma IgM assay, the frequency of specific anti-Toxoplasma IgA by the ISAGA assay was determined. All children with positive samples by IgM, IgA, clinical diagnosis or treatment during pregnancy were recalled for confirmatory tests after day 10 of life. RESULTS: 61 positive samples for specific IgM (0.39% and 9 positives for IgA (0.5% were found. 143 questionnaires were positive for a clinical diagnosis or treatment for toxoplasmosis during pregnancy. 109 out of the 218 children that had some of the criteria for postnatal confirmatory tests were followed. Congenital toxoplasmosis infection was confirmed in 15 children: 7 were symptomatic, and three of them died before the first month of life (20% of lethality. A significant correlation was found between a high incidence of markers for congenital toxoplasmosis and higher mean annual rainfall for the city. CONCLUSIONS: Incidence for congenital toxoplasmosis is significantly different between hospitals or maternal child health services from different cities in Colombia. Mean annual rainfall was correlated with incidence of congenital toxoplasmosis.

CONGENITAL MALFORMATIONS: PRENATAL DIAGNOSTICS AND NOVEL CONCEPTION OF MEDICAL HELP TO NEWBORNS

Directory of Open Access Journals (Sweden)

Yu.F. Isakov

2007-01-01

Full Text Available Current views on basic prenatal diagnostics techniques, as ultrasound, maternal serum biochemical markers (alpha fetoprotein, human chorionic gonadotropin, and unconjugated estriol, and fetal biologic material (chorionic villus sampling, placenta, amniotic liquid, fetal blood, obtained with invasive techniques (chorion biopsy, amniocentesis, cordocentesis, its' efficacy and possible practical application are given in the article. These new conception announce to consolidate three branches providing maternal and children — welfare should consolidate maternal welfare outpatient clinics, maternal hospital and newborn surgery hospital — into one institute, thus allowing to success work of all stages, to avoid transportation and late surgical treatment, to reduce lethal outcomes following surgical treatment of congenital malformations. Primary results of implementation of this conception are presented in the article.Key words: prenatal diagnostics, newborns, congenital mal formations, prevention and prophylactics, diagnostics.

The effect of post-mastectomy radiation therapy on breast implants: Unveiling biomaterial alterations with potential implications on capsular contracture

Energy Technology Data Exchange (ETDEWEB)

Ribuffo, Diego; Lo Torto, Federico [Department of Plastic Surgery, “Sapienza” University of Rome, Viale del Policlinico 155, 00166 Rome (Italy); Giannitelli, Sara M. [Tissue Engineering Unit, Department of Engineering, Università Campus Bio-Medico di Roma, Via Álvaro del Portillo 21, 00128 Rome (Italy); Urbini, Marco; Tortora, Luca [Surface Analysis Laboratory, Department of Mathematics and Physics, University “Roma Tre”, Via della Vasca Navale 84, 00146 Rome (Italy); INFN — National Institute of Nuclear Physics, Section of Roma Tre, Via della Vasca Navale 84, 00146 Rome (Italy); Mozetic, Pamela; Trombetta, Marcella [Tissue Engineering Unit, Department of Engineering, Università Campus Bio-Medico di Roma, Via Álvaro del Portillo 21, 00128 Rome (Italy); Basoli, Francesco; Licoccia, Silvia [Department of Chemical Science and Technologies, University of Rome “Tor Vergata”, Via della Ricerca Scientifica 1, 00173 Rome (Italy); Tombolini, Vincenzo [Department of Radiation Oncology, “Sapienza” University of Rome, Viale del Policlinico 155, 00166 Rome (Italy); Spencer-Lorillard Foundation, Viale Regina Elena 291, 00161 Rome (Italy); Cassese, Raffaele [Department of Radiation Oncology, “Sapienza” University of Rome, Viale del Policlinico 155, 00166 Rome (Italy); Scuderi, Nicolò [Department of Plastic Surgery, “Sapienza” University of Rome, Viale del Policlinico 155, 00166 Rome (Italy); and others

2015-12-01

Post-mastectomy breast reconstruction with expanders and implants is recognized as an integral part of breast cancer treatment. Its main complication is represented by capsular contracture, which leads to poor expansion, breast deformation, and pain, often requiring additional surgery. In such a scenario, the debate continues as to whether the second stage of breast reconstruction should be performed before or after post-mastectomy radiation therapy, in light of potential alterations induced by irradiation to silicone biomaterial. This work provides a novel, multi-technique approach to unveil the role of radiotherapy in biomaterial alterations, with potential involvement in capsular contracture. Following irradiation, implant shells underwent mechanical, chemical, and microstructural evaluation by means of tensile testing, Attenuated Total Reflectance Fourier Transform InfraRed spectroscopy (ATR/FTIR), Scanning Electron Microscopy (SEM), high resolution stylus profilometry, and Time of Flight Secondary Ion Mass Spectrometry (ToF-SIMS). Our findings are consistent with radiation-induced modifications of silicone that, although not detectable at the microscale, can be evidenced by more sophisticated nanoscale surface analyses. In light of these results, biomaterial irradiation cannot be ruled out as one of the possible co-factors underlying capsular contracture. - Highlights: • The debate continues whether to perform breast reconstruction before or after PMRT. • Radiation therapy may alter implant material, concurring to capsular contracture. • In this work, irradiated implants were investigated by a multi-technique approach. • Radiation-induced alterations could be evidenced by ATR/FTIR and ToF-SIMS. • Reported alteration might represent a co-factor underlying capsular contracture.

Temporal gene expression profiling of the rat knee joint capsule during immobilization-induced joint contractures.

Science.gov (United States)

Wong, Kayleigh; Sun, Fangui; Trudel, Guy; Sebastiani, Paola; Laneuville, Odette

2015-05-26

Contractures of the knee joint cause disability and handicap. Recovering range of motion is recognized by arthritic patients as their preference for improved health outcome secondary only to pain management. Clinical and experimental studies provide evidence that the posterior knee capsule prevents the knee from achieving full extension. This study was undertaken to investigate the dynamic changes of the joint capsule transcriptome during the progression of knee joint contractures induced by immobilization. We performed a microarray analysis of genes expressed in the posterior knee joint capsule following induction of a flexion contracture by rigidly immobilizing the rat knee joint over a time-course of 16 weeks. Fold changes of expression values were measured and co-expressed genes were identified by clustering based on time-series analysis. Genes associated with immobilization were further analyzed to reveal pathways and biological significance and validated by immunohistochemistry on sagittal sections of knee joints. Changes in expression with a minimum of 1.5 fold changes were dominated by a decrease in expression for 7732 probe sets occurring at week 8 while the expression of 2251 probe sets increased. Clusters of genes with similar profiles of expression included a total of 162 genes displaying at least a 2 fold change compared to week 1. Functional analysis revealed ontology categories corresponding to triglyceride metabolism, extracellular matrix and muscle contraction. The altered expression of selected genes involved in the triglyceride biosynthesis pathway; AGPAT-9, and of the genes P4HB and HSP47, both involved in collagen synthesis, was confirmed by immunohistochemistry. Gene expression in the knee joint capsule was sensitive to joint immobility and provided insights into molecular mechanisms relevant to the pathophysiology of knee flexion contractures. Capsule responses to immobilization was dynamic and characterized by modulation of at least three

Roles of TGF-β/Smad signaling pathway in pathogenesis and development of gluteal muscle contracture.

Science.gov (United States)

Zhang, Xintao; Ma, Yukun; You, Tian; Tian, Xiaopeng; Zhang, Honglei; Zhu, Qi; Zhang, Wentao

2015-02-01

Gluteal muscle contracture (GMC) is a chronic fibrotic disease of gluteal muscles which is characterized by excessive deposition of collagen in the extracellular matrix. Transforming growth factor (TGF)-βs have been shown to play an important role in the progression of GMC. However, the underlying mechanisms are not entirely clear. We sought to explore the expression of TGF-β/Smad pathway proteins and their downstream targets in gluteal muscle contracture disease. The expression levels of collagens type I/III, TGF-β1, Smad2/3/4/7 and PAI-1 (plasminogen activator inhibitor type 1) in gluteal muscle contraction (GMC) patients were measured using immunohistochemistry, reverse transcription and polymerase chain reaction (RT-PCR) and western blot assays. The expressions of collagens type I/III and TGF-β1 were significantly increased in the contraction band compared with unaffected muscle. In addition, R-Smad phosphorylation and Smad4 protein expression in the contraction band were also elevated, while the expression of Smad7 was significantly decreased in the fibrotic muscle of the GMC patients compared to the unaffected adjacent muscle. The protein and mRNA levels of PAI-1 were also remarkably increased in the contraction band compared with adjacent muscle. Immunohistochemical analysis also demonstrated that the expression levels of TGF-β1 and PAI-1 were higher in contraction band than those in the adjacent muscle. Our data confirm the stimulating effects of the TGF-β/Smad pathway in gluteal muscle contracture disease and reveal the internal changes of TGF-β/Smad pathway proteins and their corresponding targets in gluteal muscle contracture patients.

PERIPHERAL APPLICATION OF REPETITIVE PULSE MAGNETIC STIMULATION ON JOINT CONTRACTURE FOR MOBILITY RESTORATION: CONTROLLED RANDOMIZED STUDY

Directory of Open Access Journals (Sweden)

Efthimios J. Kouloulas

2016-10-01

Full Text Available Background: Joint contracture is a limitation in the passive or active range of motion (ROM of a joint, where in addition to the mobility limiting factor the pain is also present. Repetitive pulsed Magnetic Stimulation (rPMS appears to be an effective, non-invasive and safety solution for treating this condition. Therefore aim of this study was to evaluate the effect of rPMS in treating joint contracture. Methods: 30 subjects with joint contracture in the knee were enrolled in this study and divided respectively into Treatment and Control group. The treatment group were delivered with rPMS therapy. The control group was delivered with conventional physiotherapy method (ultrasound. The primary outcome measurements were: 1. Mobility evaluation by goniometry (ROM in degrees while performing flexion and Patient Functional Assessment Questionnaire (PFAQ for ability to perform Activities of Daily Living (ADL and 2. Pain evaluation by 10-point Visual Analog Scale (VAS for pain perception. Absence of adverse events was set as a secondary measure. Results: The results of the study show statistical difference (p<0.05 between the levels of improvement of all studied parameters while comparing between both groups. The results suggest greater immobility restoration and pain relieving effect of the rPMS in comparison to conventional physiotherapy method. Conclusion: rPMS an effective and safe non-invasive method for mobility restoration and pain relief in case of joint contractures. This study suggests the method as beneficial and quality of life ameliorating among patients suffering from immobilized joints accompanied by pain.

Lethality Index 2008-2014: Less shootings, same lethality, more opacity

Directory of Open Access Journals (Sweden)

Carlos Silva Forné

2017-11-01

Full Text Available This article evaluates the use of lethal force by Mexican federal security forces during shootings with presumed members of organized crime from 2008-2014. The authors use official data and press reports on deaths and wounded in shootings to construct indicators such as the number of dead civilians over the number of dead officials from the federal security forces and the number of dead civilians over the number of wounded civilians. In a context where certain factors that contribute to an excessive use of force become more common, the results of the study show a growing use of lethal force. This raises questions over the possible excessive use of lethal force as a normal or systematic practice. The study also shows a growing context of opacity in the information available to evaluate the use of lethal force and the general lack of a legal framework to regulate the use of lethal force in Mexico.

Non Surgical Treatment of Established Forearm’s Volkmann Contracture in Child: A Case Report

Directory of Open Access Journals (Sweden)

Seyed Ali Hosseini

2010-04-01

Full Text Available The acute compartment syndrome of the forearm is rare and may therefore be easily missed. Although many clinicians will not see such a patient during their entire career, profound knowledge of the symptoms is required to recognize the syndrome in time. Besides immediate identification of the compartment syndrome early surgical treatment is mandatory to avoid its devastating consequences. Then the functional results can be good, but it can't be correct in child because of more chance to survive necrotic muscle and regain motion with splinting and hand therapy. This study reported the nonsurgical treatment for ischemic contracture of hand and forearm due to displaced supra-condylar fracture of the humorous at 6 years old boy, after fixed contractures.

Efficacy and safety of collagenase Clostridium histolyticum injection for Dupuytren contracture: report of 40 cases.

Science.gov (United States)

Alberton, F; Corain, M; Garofano, A; Pangallo, L; Valore, A; Zanella, V; Adani, R

2014-12-01

Dupuytren's disease (DD) is a fibroproliferative pathology that affects the palmar aponeurosis causing the development of nodules and collagen cords and the progressive flexion of the fingers. The standard procedure is surgical fasciectomy, followed by high recurrence rates. Collagenase Clostridium histolyticum (CCH) injection represents an innovative noninvasive approach to the treatment of DD. This prospective study was designed to examine the efficacy and safety of CCH injection performed in the outpatient, using local anesthesia. Forty patients [32 metacarpophalangeal (MP), 8 proximal interphalangeal (PIP)] with Dupuytren's contracture of at least 20° for MP joint and any degree for PIP joint were included. The mean age was 66. All joints were treated with a single vial of collagenase injection and manual breaking of the cord 24 h after. All adverse effects (AEs) were monitored. Patients were checked 7, 30, 90, and 180 days after the injection. Primary endpoint was a reduction in digit contracture within 0°-5° of normal extension. Secondary endpoints were the improvement of range of motion, the evaluation of AEs incidence, and cost-effectiveness of collagenase treatment. About 67.5 % of patients obtained a clinical success. At 6 months, a further 7.5% attained the same result. The mean contracture of treated joints was 5.3º for MP and 6.8° for PIP joints. Twenty-three patients had one or more mild-to-moderate side effects. The use of collagenase appears to be an effective and safe method for the treatment of Dupuytren's contracture. Therapeutic success was achieved in a significant percentage of patients. The incidence of side effects was higher, but they were local reactions of short duration. The use of a single collagenase vial in patients treated in day surgery appears more cost-effective than surgery.

Treatment of the Upper Extremity Contracture/Deformities.

Science.gov (United States)

Oishi, Scott N; Agranovich, Olga; Pajardi, Giorgio E; Novelli, Chiara; Baindurashvili, Alexey G; Trofimova, Svetlana I; Abdel-Ghani, Hisham; Kochenova, Evgenia; Prosperpio, Giulietta; Jester, Andrea; Yilmaz, Güney; Şenaran, Hakan; Kose, Oksana; Butler, Lesley

Patients with arthrogryposis multiplex congenita have a characteristic upper extremity resting posture consisting of internal rotation of the shoulders, elbow extension, flexed wrists, thumb-in palm deformities, and variable degrees of finger contractures. Treatment of these patients is aimed at improving independence and performance of activities of daily living. Although each area needs to be assessed independently for the most appropriate surgical procedure, often multiple areas can be addressed at the same operative setting. This limits the number of anesthetic exposures and cast immobilization time. The following is a synopsis of treatment strategies presented at the second international symposium on Arthrogryposis which took place in St Petersburg in September 2014.

Relationship between flexion contractures of the joints of the lower extremities and the sagittal profile of the spine in patients with cerebral palsy: a preliminary report

Directory of Open Access Journals (Sweden)

Valery V. Umnov

2016-11-01

Full Text Available Background. The considerable incidence of kyphosis in patients with cerebral palsy (CP causes back pain and aggravates movement disorders. However, few studies have investigated the pathogenesis of this condition. Aim. To identify the relationship between patient motor abilities, the severity of flexion contractures of the knee and hip joints and spinal sagittal profile changes, and the impact on the latter by surgical correction of flexion contracture of the knee joint. Material and methods. The study cohort included 17 pediatric CP patients (11 boys and 6 girls with a mean age of 13.1 ± 1.3 (range, 10–16 years and level 2–4 spastic diplegia according to the Gross Motor Function Classification System. The relationship between radiological indicators of the spine sagittal profile and motor abilities of children, as well as the severity of flexion contractures at the hip and knee, and the degree of insufficiency of the active extension of the knee were investigated. Of these 17 patients, 12 underwent surgery to correct flexion contracture of the knee, which involved lengthening of leg flexors, to analyze the impact of contracture on the sagittal profile of the spine. The following radiological indicators were assessed: angle of thoracic kyphosis (CC, lordosis angle (UL of the lumbar spine, and sacral inclination angle (SS. The study included patients with a CC of at least 30°. Results. Results of an X-ray study showed that the severity of kyphosis was 50.7° ± 2.1°, lordosis was 30.3° ± 4.3°, and SS was 30.5° ± 3.3°. There was a significant association between kyphosis and flexion contracture of the knee joint, as well as between lordosis and insufficient active extension of the knee joint. After elimination of the flexion contracture of the knee, the degree of severity of the CC (thoracic kyphosis was unchanged, while UL (lordosis angle and SS (sacral inclination angle increased by approximately 10°. Conclusion. The severity of

Recurrence of Dupuytren's contracture: A consensus-based definition.

Directory of Open Access Journals (Sweden)

Hester J Kan

Full Text Available One of the major determinants of Dupyutren disease (DD treatment efficacy is recurrence of the contracture. Unfortunately, lack of agreement in the literature on what constitutes recurrence makes it nearly impossible to compare the multiple treatments alternatives available today. The aim of this study is to bring an unbiased pool of experts to agree upon what would be considered a recurrence of DD after treatment; and from that consensus establish a much-needed definition for DD recurrence.To reach an expert consensus on the definition of recurrence we used the Delphi method and invited 43 Dupuytren's research and treatment experts from 10 countries to participate by answering a series of questionnaire rounds. After each round the answers were analyzed and the experts received a feedback report with another questionnaire round to further hone in of the definition. We defined consensus when at least 70% of the experts agreed on a topic.Twenty-one experts agreed to participate in this study. After four consensus rounds, we agreed that DD recurrence should be defined as "more than 20 degrees of contracture recurrence in any treated joint at one year post-treatment compared to six weeks post-treatment". In addition, "recurrence should be reported individually for every treated joint" and afterwards measurements should be repeated and reported yearly.This study provides the most comprehensive to date definition of what should be considered recurrence of DD. These standardized criteria should allow us to better evaluate the many treatment alternatives.

Myalgias and muscle contractures as the presenting signs of Addison's disease.

OpenAIRE

Shapiro, M. S.; Trebich, C.; Shilo, L.; Shenkman, L.

1988-01-01

Severe generalized myalgias and muscle contractures of the lower extremities were the major initial manifestations of adrenal insufficiency in a 26 year old black male. The intensity of increased skin pigmentation was not fully appreciated until the patient's skin colour was compared to that of his brother. Replacement with physiological doses of gluco- and mineralocorticoids was associated with complete amelioration of symptomatology.

Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.

Science.gov (United States)

Filges, Isabel; Friedman, Jan M

2015-10-01

Massively parallel sequencing has revolutionized our understanding of Mendelian disorders, and many novel genes have been discovered to cause disease phenotypes when mutant. At the same time, next-generation sequencing approaches have enabled non-invasive prenatal testing of free fetal DNA in maternal blood. However, little attention has been paid to using whole exome and genome sequencing strategies for gene identification in fetal disorders that are lethal in utero, because they can appear to be sporadic and Mendelian inheritance may be missed. We present challenges and advantages of applying next-generation sequencing approaches to gene discovery in fetal malformation phenotypes and review recent successful discovery approaches. We discuss the implication and significance of recessive inheritance and cross-species phenotyping in fetal lethal conditions. Whole exome sequencing can be used in individual families with undiagnosed lethal congenital anomaly syndromes to discover causal mutations, provided that prior to data analysis, the fetal phenotype can be correlated to a particular developmental pathway in embryogenesis. Cross-species phenotyping allows providing further evidence for causality of discovered variants in genes involved in those extremely rare phenotypes and will increase our knowledge about normal and abnormal human developmental processes. Ultimately, families will benefit from the option of early prenatal diagnosis. © 2014 John Wiley & Sons, Ltd.

[Application of distal palm perforator mini-flap in repair of scar contracture of digital web-spaces].

Science.gov (United States)

Zhou, Xiao; Xu, Yajun; Rui, Yongjun; Shou, Kuishui; Yao, Qun

2011-02-01

To discuss the effectiveness of distal palm perforator mini-flap in the treatment of scar contracture of digital web-spaces. Between August 2008 and March 2010, 6 cases of scar contracture of digital web-spaces were treated, including 4 males and 2 females and aging 16-68 years (mean, 45 years). The causes were burn injury, twisting injury, and crush injury in 2 cases, respectively. The disease duration was from 3 months to 3 years. The affected digital web-spaces were from index finger to middle finger in 2 cases, from middle finger to ring finger in 3 cases, and from ring finger to small finger in 1 case. The maximum abduction degree of digital web-spaces was 5-10 degrees. The sizes and the depths of reshape of digital web-spaces disappeared. The defect size ranged from 20 mm x 8 mm to 30 mm x 13 mm after opening digital web-spaces. The size of the distal palm perforator mini-flap ranged from 25 mm x 10 mm to 35 mm x 15 mm. The donor sites were sutured directly. All 6 flaps survived and got primary healing. Incisions at donor sites healed by first intention. All patients were followed up 6-12 months. The reconstructed digital web-spaces had good appearance and soft texture. The range of motion of metacarpophalangeal joint was normal. The sizes and the depths of reshape of digital web-spaces were similar to normal ones. The maximum abduction degree of digital web-spaces was 40-60 degrees. There was no scar contracture of incision of palm. The shape of flaps and function of the fingers were satisfactory after 6-12 months of follow-up. It is an ideal method to treat scar contracture of digital web-spaces with distal palm perforator mini-flap.

Histopathological effects of lethal and sub-lethal concentrations of ...

African Journals Online (AJOL)

The histopathological effects of lethal and sub-lethal concentrations of glyphosate on African catfish Clarias gariepinus were investigated. C. gariepinus juveniles were assessed in a static renewal bioassay for 96 hours (acute toxicity) and 28 days (chronic toxicity) using varying concentrations (0.0 mg/l 20.0 mg/l, 30.0 mg/l, ...

[The application of delayed skin grafting combined traction in severe joint cicatricial contracture].

Science.gov (United States)

Xu, Zihan; Zhang, Zhenxin; Wang, Benfeng; Sun, Yaowen; Guo, Yadong; Gao, Wenjie; Qin, Gaoping

2014-11-01

To investigate the effect of delayed skin grafting combined traction in severe joint cicatricial contracture. At the first stage, the joint cicatricial contracture was released completely with protection of vessels, nerves and tendons. The wound was covered with allogenetic skin or biomaterials. After skin traction for 7-14 days, the joint could reach the extension position. Then the skin graft was performed on the wound. 25 cases were treated from Mar. 2000 to May. 2013. Primary healing was achieved at the second stage in all the cases. The skin graft had a satisfactory color and elasticity. Joint function was normal. All the patients were followed up for 3 months to 11 years with no hypertrophic scar and contraction relapse, except for one case who didn' t have enough active exercise on shoulder joint. Delayed skin grafting combined traction can effectively increase the skin graft survival rate and improve the joint function recovery.

Thoracic Outlet Syndrome and Volkmann's Contracture in a Field Hockey Player

Directory of Open Access Journals (Sweden)

Morgan Sawyer

2016-05-01

Full Text Available Background: A 19-year-old female field hockey player presents with bilateral upper trapezius and rhomboid tightness and spasm beginning in January of 2016. She has no previous history of upper back pain or injury. The student first reported the injury immediately after running sprints. She stated that she could not move or feel her fingers or hands. She presents with a visible hump on her left upper trapezius. She also has forward-rounded shoulders. She has regular and equal radial pulses. She has decreased sensation upon palpation of her fingers, hands and forearms. After extraneous exercise, the athlete’s hands, wrists and forearms go into contracture and flexion and she is unable to move from this position until manual extension is applied, or 10 or more minutes of rest occurs. She is TTP over her upper trapezius musculature. She had a positive Military Brace test. Differential Diagnosis: Based on evaluation, the athlete could simply just have upper trapezius musculature spasms. The diagnosis could also be shoulder impingement syndrome, due to the neurological signs and symptoms. Compartment syndrome could produce similar s/s that the athlete experiences, as well. Treatment: X-rays show no bony abnormalities and no extra ribs. The athlete’s injury has been treated with ice post-practice, heat pre-practice and upper body stretching exercises. Three days a week the athlete works on postural exercises that strengthen her back musculature. The athlete also receives combination therapy over her upper trapezius trigger points, along with massage and Hawkgrip technique over the same areas. Uniqueness: The uniqueness in this case is that the athlete has both TOS and Volkmann’s contracture. Volkmann’s contractures typically occur in pediatrics, which is another reason why this particular case is unique. Conclusion: This case allows other clinicians to understand the causes of TOS and the secondary s/s that TOS can potentially cause.

X-ray diagnostic data on posttraumatic deforming arthrosis and elbow joint contracture

International Nuclear Information System (INIS)

Mironchuk, L.V.

2010-01-01

To investigate the most common complications of elbow joint injuries and their degree using x-ray findings at various types of traumas. Radiography is the main method of diagnosis of EJ injury consequences, among them the most frequent are arthrosis deformations and contractures, therefore the volume of EJ volume should be considered when determining the disease stages.

Magnetic resonance imaging, ultrasound and real-time ultrasound elastography of the thigh muscles in congenital muscle dystrophy

Energy Technology Data Exchange (ETDEWEB)

Drakonaki, Eleni E. [University of Crete, Radiology Department, Heraklion (Greece); Allen, Gina M. [Green Templeton College, Oxford (United Kingdom)

2010-04-15

Congenital muscle dystrophy includes a range of genetic disorders characterized by muscle weakness and contractures. We report the magnetic resonance (MR), ultrasound (US) and real-time sonoelastography (RTE) imaging findings of the thigh muscles of a 15-year-old boy with Bethlem myopathy diagnosed with clinical, electromyographic and histopathological criteria. Ultrasound and MR showed hyperechoic appearance and high signal intensity on T1- and T2-weighted sequences respectively at the periphery of the vastus lateralis and the long head of the biceps femoris muscles, and at a central area within the rectus femoris muscles. RTE was employed to examine the elastic properties of the muscle. The elastograms were presented as colour-coded maps superimposed on the B-mode images and revealed that the elastographic pattern correlated with the MR and US pattern of involvement. The abnormal muscle areas were stiffer (blue) than the normal-appearing areas (green), a finding that probably correlates with the presence of dystrophic collagen at the affected areas. This report suggests that RTE could be used as an additional imaging tool to evaluate the pattern of muscle changes in congenital myopathy. Further studies are needed to investigate the specificity and clinical value of RTE in the diagnosis and monitoring of neuromuscular disease. (orig.)

Magnetic resonance imaging, ultrasound and real-time ultrasound elastography of the thigh muscles in congenital muscle dystrophy

International Nuclear Information System (INIS)

Drakonaki, Eleni E.; Allen, Gina M.

2010-01-01

Congenital muscle dystrophy includes a range of genetic disorders characterized by muscle weakness and contractures. We report the magnetic resonance (MR), ultrasound (US) and real-time sonoelastography (RTE) imaging findings of the thigh muscles of a 15-year-old boy with Bethlem myopathy diagnosed with clinical, electromyographic and histopathological criteria. Ultrasound and MR showed hyperechoic appearance and high signal intensity on T1- and T2-weighted sequences respectively at the periphery of the vastus lateralis and the long head of the biceps femoris muscles, and at a central area within the rectus femoris muscles. RTE was employed to examine the elastic properties of the muscle. The elastograms were presented as colour-coded maps superimposed on the B-mode images and revealed that the elastographic pattern correlated with the MR and US pattern of involvement. The abnormal muscle areas were stiffer (blue) than the normal-appearing areas (green), a finding that probably correlates with the presence of dystrophic collagen at the affected areas. This report suggests that RTE could be used as an additional imaging tool to evaluate the pattern of muscle changes in congenital myopathy. Further studies are needed to investigate the specificity and clinical value of RTE in the diagnosis and monitoring of neuromuscular disease. (orig.)

Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice

Science.gov (United States)

Wilson, Robert; Geyer, Stefan H.; Reissig, Lukas; Rose, Julia; Szumska, Dorota; Hardman, Emily; Prin, Fabrice; McGuire, Christina; Ramirez-Solis, Ramiro; White, Jacqui; Galli, Antonella; Tudor, Catherine; Tuck, Elizabeth; Mazzeo, Cecilia Icoresi; Smith, James C.; Robertson, Elizabeth; Adams, David J.; Mohun, Timothy; Weninger, Wolfgang J.

2017-01-01

Background: Identifying genes that are essential for mouse embryonic development and survival through term is a powerful and unbiased way to discover possible genetic determinants of human developmental disorders. Characterising the changes in mouse embryos that result from ablation of lethal genes is a necessary first step towards uncovering their role in normal embryonic development and establishing any correlates amongst human congenital abnormalities. Methods: Here we present results gathered to date in the Deciphering the Mechanisms of Developmental Disorders (DMDD) programme, cataloguing the morphological defects identified from comprehensive imaging of 220 homozygous mutant and 114 wild type embryos from 42 lethal and subviable lines, analysed at E14.5. Results: Virtually all mutant embryos show multiple abnormal phenotypes and amongst the 42 lines these affect most organ systems. Within each mutant line, the phenotypes of individual embryos form distinct but overlapping sets. Subcutaneous edema, malformations of the heart or great vessels, abnormalities in forebrain morphology and the musculature of the eyes are all prevalent phenotypes, as is loss or abnormal size of the hypoglossal nerve. Conclusions: Overall, the most striking finding is that no matter how profound the malformation, each phenotype shows highly variable penetrance within a mutant line. These findings have challenging implications for efforts to identify human disease correlates. PMID:27996060

The use of Collagenase Clostridium Histolyticum in the management of Dupuytren's contracture-outcomes of a pilot study in a District General Hospital setting.

Science.gov (United States)

Murphy, Lynn E; Murphy, Karen M; Kilpatrick, Shauneen M; Thompson, Neville W

2017-05-01

Collagenase Clostridium Histolyticum (CCH) is a recognised treatment option for adult patients presenting with Dupuytren's contracture (DC). Twenty male patients with established DC were treated using CCH. The average metacarpophalangeal (MCP) joint and proximal interphalangeal joint (PIP) contractures pre-treatment were 52 0 (range, 0 - 75 0 ) and 35 0 (range, 0 - 84 0 ) respectively. The average DASH score pre-treatment was 24.2 points (range, 0 - 68.2 points). Patients were reviewed at lmonth, 3months and at an average of 23 months (17 to 27 months). MCP joint contractures significantly improved compared to pre-treatment and the improvement was maintained at latest follow up. PIP joint contractures did significantly improve but to a lesser degree and there was no significant improvement compared to pre-treatment beyond 3months. A trend for MCP and PIP joint contracture recurrence was observed at latest follow up but did not reach statistical significance. DASH scores significantly improved from pre-treatment and the improvement was maintained at latest follow up. At 3months, the average patient satisfaction score was 9.5 (range, 6 - 10), which decreased to 8.6 (range, 6 - 10) at latest follow up. We estimated a potential cost saving of approximately £70,000 by treating 20 patients using CCH compared to inpatient operative fasciectomy. CCH is a useful option in the management of DC in appropriately selected patients. Cost-effectiveness in the treatment of DC should be carefully considered.

A novel Noonan syndrome RAF1 mutation: lethal course in a preterm infant

Directory of Open Access Journals (Sweden)

Ana Ratola

2015-06-01

Full Text Available Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal outcome associated to acute respiratory distress syndrome caused by Adenovirus pneumonia. A novel mutation in the RAF1 gene was identified: c.782C>G (p.Pro261Arg in heterozygosity, not described previously in the literature. Consequently, the common clinical course in this mutation and its respective contribution to the early fatal outcome is unknown. No conclusion can be established regarding genotype/phenotype correlation.

Theories of Lethal Mutagenesis: From Error Catastrophe to Lethal Defection.

Science.gov (United States)

Tejero, Héctor; Montero, Francisco; Nuño, Juan Carlos

2016-01-01

RNA viruses get extinct in a process called lethal mutagenesis when subjected to an increase in their mutation rate, for instance, by the action of mutagenic drugs. Several approaches have been proposed to understand this phenomenon. The extinction of RNA viruses by increased mutational pressure was inspired by the concept of the error threshold. The now classic quasispecies model predicts the existence of a limit to the mutation rate beyond which the genetic information of the wild type could not be efficiently transmitted to the next generation. This limit was called the error threshold, and for mutation rates larger than this threshold, the quasispecies was said to enter into error catastrophe. This transition has been assumed to foster the extinction of the whole population. Alternative explanations of lethal mutagenesis have been proposed recently. In the first place, a distinction is made between the error threshold and the extinction threshold, the mutation rate beyond which a population gets extinct. Extinction is explained from the effect the mutation rate has, throughout the mutational load, on the reproductive ability of the whole population. Secondly, lethal defection takes also into account the effect of interactions within mutant spectra, which have been shown to be determinant for the understanding the extinction of RNA virus due to an augmented mutational pressure. Nonetheless, some relevant issues concerning lethal mutagenesis are not completely understood yet, as so survival of the flattest, i.e. the development of resistance to lethal mutagenesis by evolving towards mutationally more robust regions of sequence space, or sublethal mutagenesis, i.e., the increase of the mutation rate below the extinction threshold which may boost the adaptability of RNA virus, increasing their ability to develop resistance to drugs (including mutagens). A better design of antiviral therapies will still require an improvement of our knowledge about lethal

[A representative case of joint contracture as a main feature of AL amyloid deposits identified in the skeletal muscles].

Science.gov (United States)

Matsumura, Erika; Yamaguchi, Tetsuto; Tomidokoro, Yasushi; Ishii, Akiko; Tamaoka, Akira

2014-01-01

A 68-year-old man, with a history of type 2 diabetes mellitus and chronic kidney impairment, had been suffering from progressive knee joint contracture and dysesthesia of the lower extremities for 4 years. When he walked, his knees remained bent owing to contracture of the knee joints. There was no evidence of muscle pseudohypertrophy, intramuscular nodules, or muscle weakness. Clinical examination revealed IgA λ M-protein, reticular high-signal intensity lesions demonstrated by magnetic resonance T2-short TI IR(STIR) imaging of the lower extremity muscles, and a mixture of neurogenic and myogenic changes demonstrated by needle electromyography. A biopsy specimen from the vastus lateralis muscle identified Aλ amyloid deposits around the vessels, establishing a diagnosis of amyloid myopathy based on systemic AL amyloidosis. This case demonstrated that joint contracture and reticular lesions shown by magnetic resonance STIR imaging of the muscles can alert the physician to consider muscle biopsy to investigate deposition of amyloid in the skeletal muscles even in the absence of muscle pseudohypertrophy or weakness, both of which are characteristic of amyloid myopathy.

Anaesthetic management of a paediatric patient with congenital fibre type disproportion myopathy.

Science.gov (United States)

Buisán, F; de la Varga, O; Flores, M; Sánchez-Ruano, J

2018-04-23

Congenital fibre type disproportion (CFTD) is a rare type of myopathy that is characterised by muscle weakness and hypotonia during childhood. Clinical features include motor delay, feeding difficulties, limb weakness, joint contractures, and scoliosis. A report is presented of the anaesthetic management of a 3-year-old girl with CFTD myopathy associated with a mutation of the TPM3 gene, scheduled for adenotonsillectomy because of obstructive sleep apnoea hypopnoea syndrome (OSAHS). The main concerns were the possible susceptibility to malignant hyperthermia, the risk of anaesthesia-induced rhabdomyolysis, a greater sensitivity to non-depolarising muscle relaxants, and the presence of OSAHS. Total intravenous anaesthesia with propofol and the use of rocuronium/sugammadex appear to be safe options. Given the high risk of respiratory compromise and other complications, patients should be closely monitored in the post-operative period. Copyright © 2018 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

Intra-articular decorin influences the fibrosis genetic expression profile in a rabbit model of joint contracture.

Science.gov (United States)

Abdel, M P; Morrey, M E; Barlow, J D; Grill, D E; Kolbert, C P; An, K N; Steinmann, S P; Morrey, B F; Sanchez-Sotelo, J

2014-01-01

The goal of this study was to determine whether intra-articular administration of the potentially anti-fibrotic agent decorin influences the expression of genes involved in the fibrotic cascade, and ultimately leads to less contracture, in an animal model. A total of 18 rabbits underwent an operation on their right knees to form contractures. Six limbs in group 1 received four intra-articular injections of decorin; six limbs in group 2 received four intra-articular injections of bovine serum albumin (BSA) over eight days; six limbs in group 3 received no injections. The contracted limbs of rabbits in group 1 were biomechanically and genetically compared with the contracted limbs of rabbits in groups 2 and 3, with the use of a calibrated joint measuring device and custom microarray, respectively. There was no statistical difference in the flexion contracture angles between those limbs that received intra-articular decorin versus those that received intra-articular BSA (66° vs 69°; p = 0.41). Likewise, there was no statistical difference between those limbs that received intra-articular decorin versus those who had no injection (66° vs 72°; p = 0.27). When compared with BSA, decorin led to a statistically significant increase in the mRNA expression of 12 genes (p Cite this article: Bone Joint Res 2014;3:82-8.

Genetics Home Reference: congenital contractural arachnodactyly

Science.gov (United States)

... underdeveloped muscles, a rounded upper back that also curves to the side ( kyphoscoliosis ), permanently bent fingers and ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

Effect of Stretching Combined With Ultrashort Wave Diathermy on Joint Function and Its Possible Mechanism in a Rabbit Knee Contracture Model.

Science.gov (United States)

Zhang, Quan Bing; Zhou, Yun; Zhong, Hua Zhang; Liu, Yi

2018-05-01

The aim of this study was to investigate the therapeutic effect of stretching combined with ultrashort wave on joint contracture and explore its possible mechanism. Thirty-two rabbits underwent unilateral immobilization of a knee joint at full extension to cause joint contracture. At 6 wks after immobilization, the rabbits were randomly divided into the following four groups: natural recovery group, stretching treatment group, ultrashort wave treatment group, and combined treatment group. For comparison, eight control group animals of corresponding age were also examined. The effect of stretching and ultrashort wave treatment on joint contracture was assessed by measuring the joint range of motion, evaluating the collagen deposition of joint capsule and assessing the mRNA and protein levels for transforming growth factor β1 in the joint capsule. The combined treatment group led to the best recovery of joint function. The combined treatment with stretching and ultrashort wave was more effective than stretching or ultrashort wave treatment alone against the synovial thickening of suprapatellar joint capsule, the collagen deposition of anterior joint capsule, and the elevated expression of transforming growth factor β1 in the joint capsule. Stretching combined with ultrashort wave treatment was effective in improving joint range of motion, reducing the biomechanical, histological, and molecular manifestations of joint capsule fibrosis in a rabbit model of extending joint contracture.

Prolonged blockade of the brachial plexus for the early rehabilitation of children with posttraumatic elbow contractures

Directory of Open Access Journals (Sweden)

D. V. Zabolotsky

2015-01-01

Full Text Available Objective. Improvement of surgical treatment outcomes in children with post-traumatic elbow contractures. Materials and methods. The study is based on the diagnostic findings of 48 children with post-traumatic elbow contractures who were treated at the Turner Scientific and Research Institute for Children’s Orthopedics. All children underwent complex rehabilitation after reconstructive intra-articular surgery to work out passive motions in the elbow using ARTROMOT-E2 device. The patients of the study group started rehabilitation in the first days after reconstructive intra-articular surgery in the background of prolonged blockade of the brachial plexus. In the control group, the rehabilitation was carried out traditionally on the 6th day after surgery without regional anesthesia. The patients of the study group were supplied with Contiplex SU perinural catheters for prolonged blockade of the brachial plexus using ultrasound (Edge SonoSite and neurostimulation (Stimuplex® HNS12 before surgery. For perioperative blockade of the brachial plexus we used intermittent injection of 0.5% ropivacaine (2 mg / kg. The severity of pain at the stages of rehabilitation was assessed using 10-point grading scale (FPS-R. The range of active and passive motions in the joints was evaluated by measuring the range of motions with a fleximeter. Results. Intermittent injection of ropivacaine before rehabilitation allowed to correct post-traumatic elbow contractures in children in the first days after surgery associated with the minimum subjective pain level and stable hemodynamic parameteres, accompanied with a significant increase of the elbow motion range in comparison with the group of the patients who were not performed regional anesthesia . Conclusion. Prolonged blockade of the brachial plexus in rehabilitation treatment of children with post-traumatic contractures provides appropriate analgesic and myoneural block components from the 1st day after intra

Potassium Chloride Versus Voltage Clamp Contractures in Ventricular Muscle

Science.gov (United States)

Morad, M.; Reeck, S.; Rao, M.

1981-01-01

In frog ventricle, developed tension was markedly larger in response to depolarization caused by a voltage clamp step than to depolarization induced by high concentrations of potassium chloride. Measurement of extracellular potassium activity at the surface and at the depth of muscle during the development of contractures showed that the diffusion of potassium is much slower than the spread of depolarization through the cross section of muscle. These two observations suggest that competition between the depolarizing and the negative inotropic effects of an increase in the extracellular potassium ion concentration may determine the time course and magnitude of contractile tension in heart muscle.

Vicious Cycle of Multiple Invasive Treatments in a Hemophilic Inhibitor Positive Child with Resistant Knee Flexion Contracture, A Case Report

Directory of Open Access Journals (Sweden)

Amir Reza Kachooei

2013-12-01

Full Text Available   Uncontrolled recurrent hemarthrosis can end to contracture, deformity, pain, joint destruction and gait disorders which are disabling. We are going to report a challenge, a unilateral knee flexion contracture in a child with severe hemophilia A and inhibitor who underwent different treatment options with unsatisfactory improvement of knee range of motion. Mismanaging postoperatively, patient and parents irresponsibility in managing self-care, lack of access and affordability to treatment and unavailability of proper treatment can be the reasons of recurrence in addition to the tough nature of a patient with inhibitor.  

Vicious Cycle of Multiple Invasive Treatments in a Hemophilic Inhibitor Positive Child with Resistant Knee Flexion Contracture, A Case Report

Directory of Open Access Journals (Sweden)

Amir Reza Kachooei

2013-12-01

Full Text Available Uncontrolled recurrent hemarthrosis can end to contracture, deformity, pain, joint destruction and gait disorders which are disabling. We are going to report a challenge, a unilateral knee flexion contracture in a child with severe hemophilia A and inhibitor who underwent different treatment options with unsatisfactory improvement of knee range of motion. Mismanaging postoperatively, patient and parents irresponsibility in managing self-care, lack of access and affordability to treatment and unavailability of proper treatment can be the reasons of recurrence in addition to the tough nature of a patient with inhibitor.

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

DEFF Research Database (Denmark)

Goriely, Anne; Hansen, Ruth M S; Taylor, Indira B

2009-01-01

Genes mutated in congenital malformation syndromes are frequently implicated in oncogenesis, but the causative germline and somatic mutations occur in separate cells at different times of an organism's life. Here we unify these processes to a single cellular event for mutations arising in male germ...... cells that show a paternal age effect. Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G, encoding K650E, which causes thanatophoric dysplasia in the germline) and 5 mutations in HRAS. Massively parallel sequencing of sperm DNA...... a common 'selfish' pathway supporting proliferation in the testis, leading to diverse phenotypes in the next generation including fetal lethality, congenital syndromes and cancer predisposition....

Suicide Lethality: A Concept Analysis.

Science.gov (United States)

DeBastiani, Summer; De Santis, Joseph P

2018-02-01

Suicide is a significant health problem internationally. Those who complete suicide may have different behaviors and risk factors than those who attempt a non-fatal suicide. The purpose of this article is to analyze the concept of suicide lethality and propose a clear definition of the concept through the identification of antecedents, attributes, and consequences. A literature search for articles published in the English language between 1970 and 2016 was conducted using MEDLINE, the Cochrane Library, Pubmed, Psychlit, Ovid, PsycINFO, and Proquest. The bibliographies of all included studies were also reviewed to identify additional relevant citations. A concept analysis was conducted on the literature findings using six stages of Walker and Avant's method. The concept analysis differentiated between suicide, lethality, suicidal behavior, and suicide lethality. Presence of a suicide plan or a written suicide note was not found to be associated with the majority of completed suicides included in the definition of suicide lethality. There are a few scales that measure the lethality of a suicide attempt, but none that attempt to measure the concept of suicide lethality as described in this analysis. Clarifying the concept of suicide lethality encourages awareness of the possibility of different suicidal behaviors associated with different suicide outcomes and will inform the development of future nursing interventions. A clearer definition of the concept of suicide lethality will guide clinical practice, research, and policy development aimed at suicide prevention.

In Vitro Contracture Test Results and Anaesthetic Management of a Patient with Emery-Dreifuss Muscular Dystrophy for Cardiac Transplantation

Directory of Open Access Journals (Sweden)

Frank Schuster

2012-01-01

Full Text Available Emery-Dreifuss muscular dystrophy (EDMD is a hereditary neuromuscular disorder characterized by slowly progressive muscle weakness, early contractures, and dilated cardiomyopathy. We reported an uneventful general anaesthesia using total intravenous anaesthesia (TIVA for cardiac transplantation in a 19-year-old woman suffering from EDMD. In vitro contracture test results of two pectoralis major muscle bundles of the patient suggest that exposition to triggering agents does not induce a pathological sarcoplasmic calcium release in the lamin A/C phenotype. However, due to the lack of evidence in the literature, we would recommend TIVA for patients with EDMD if general anaesthesia is required.

[DIAGNOSTIC VARIATIONS OF X-LINKED MUSCULAR DYSTROPHY WITH CONTRACTURES].

Science.gov (United States)

Kvirkvelia, N; Shakarishvili, R; Gugutsidze, D; Khizanishvili, N

2015-01-01

Case report with review describes X-linked muscular dystrophy with contractures in 28 years old man and his cousin. The disease revealed itself in an early stage (age 5-10), the process was progressing with apparent tendons retraction and contraction, limited movement in the areas of the neck and back of spine, atrophy of shoulder and pelvic yard and back muscles. Intellect was intact. Cardyomyopathy was exhibited. CK was normal. EMG showed classic myopathic features. Muscle biopsy showed different caliber groups of muscle fibers, growth of endo-perimesial connective tissue. Clinical manifestations together with electrophysiological and histological data suggest consistency with Rotthauwe-Mortier-Bayer X-linked muscular dystrophy.

The association of congenital neuroblastoma and congenital heart disease

International Nuclear Information System (INIS)

Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

1989-01-01

Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

Bilateral iliopsoas muscle contracture and spinous process impingement in a German Shepherd dog.

Science.gov (United States)

Ragetly, Guillaume R; Griffon, Dominique J; Johnson, Ann L; Blevins, William E; Valli, Victor E

2009-12-01

To report diagnosis and treatment of bilateral iliopsoas muscle contracture in a dog with spinous process impingement. Case report. German Shepherd dog. A dog with chronic progressive lameness, flexion contracture of the coxofemoral joints, severe pain, and decreased femoral reflexes had severe spondylosis bridging the vertebral bodies from L1 to L4 and enlarged dorsal spinous processes from T8 to L6 with impingement and bony proliferation. Ultrasonographic and magnetic resonance imaging (MRI) findings were consistent with fibrosis, mineralization, and atrophy of the iliopsoas muscles bilaterally which was treated by staged tenectomy of the insertions of the iliopsoas muscles. Because of severe perivascular fibrosis, the femoral vessels required ligation. Bilateral iliopsoas muscle tenectomy improved gait and provided pain relief. Histologic findings were consistent with fibrotic myopathy. Slow progression of severe clinical signs observed bilaterally in this dog differs from previous reports of iliopsoas myopathy. Findings were similar to the fibrotic myopathy of the gracilis or semitendinosus muscles described in dogs. Iliopsoas muscle abnormalities should be considered in dogs with limited hip extension and pain. MRI is useful for diagnosing muscle fibrosis. Iliopsoas tenectomy may improve clinical function in dogs with fibrotic myopathy.

Endoscopic release of congenital muscular torticollis with radiofrequency in teenagers.

Science.gov (United States)

Wang, Jun-Liang; Qi, Wei; Liu, Yu-Jie

2018-05-03

Congenital muscular torticollis (CMT) is due to contracture of the sternocleidomastoid muscle which may cause activity limitations of the neck, tilt of the head, craniofacial asymmetry, and deformity of the skull. The authors present their experience of arthroscopic tight fibrous band release with radiofrequency in teenagers under local anesthesia and evaluate the clinical results. A total of 69 patients who underwent arthroscopic release of CMT with radiofrequency under local anesthesia by a single surgeon could participate in this study. Before operation, surface landmarks of sternocleidomastoid muscle, bone, and neurovascular structures were marked. Local infiltrating anesthesia of the surgical region was then performed. Through a working space created by blunt dissection, the arthroscopy and radiofrequency devices were introduced. Then, the clavicular and sternal heads of the sternocleidomastoid muscle were identified and gradually transected. The patients were followed up postoperatively with Cheng's scoring system. There were 31 male patients and 38 female patients. The mean age of the patients was 16.1 years. The mean length of follow-up in this series was 36.7 months (range, 28 to 67 months). During the operation, 62 patients (89.9%) had no pain, 6 patients (8.7%) felt mild pain, and only 1 patient (1.4%) regarded the procedure as very painful. At all follow-up periods, there were no repeat arthroscopies for any of these patients. At the final follow-up, the average rotation deficit improved from 22.5° to 4.1° postoperatively, and the average lateral bending deficit improved from 14.6° to 3.3° (p radiofrequency under local anesthesia provides surgeons with an alternative to traditional open techniques for the management of congenital muscular torticollis (CMT). Our date shows that this method is minimally invasive and provides good functional recovery with a lower risk of complications.

Dilatation of the Great Arteries in an Infant with Marfan Syndrome and Ventricular Septal Defect

Directory of Open Access Journals (Sweden)

L. Rozendaal

2011-01-01

Full Text Available We describe an infant presenting with contractures of the fingers, a large ventricular septal defect (VSD, and severe pulmonary artery dilatation. He had clinical and echocardiographic features of both neonatal or infantile Marfan syndrome (MFS and congenital contractural arachnodactyly. After surgical VSD closure, the aortic root developed progressive dilatation while the size of pulmonary artery returned to normal limits. Eventually the diagnosis of MFS was confirmed by DNA analysis.

Upregulation of interleukin-1β/transforming growth factor-β1 and hypoxia relate to molecular mechanisms underlying immobilization-induced muscle contracture.

Science.gov (United States)

Honda, Yuichiro; Sakamoto, Junya; Nakano, Jiro; Kataoka, Hideki; Sasabe, Ryo; Goto, Kyo; Tanaka, Miho; Origuchi, Tomoki; Yoshimura, Toshiro; Okita, Minoru

2015-09-01

In this study we investigated the molecular mechanism underlying muscle contracture in rats. The rats were divided into immobilization and control groups, and soleus muscles of the right and left sides were selected for analyses. The levels of CD11b and α-SMA protein, IL-1β, and TGF-β1 mRNA, and type I and III collagen protein and mRNA were significantly greater in the immobilization group than in the control group at all time-points. HIF-1α mRNA levels were significantly higher in the immobilization group at 4 weeks. Moreover, HIF-1α, α-SMA, and type I collagen levels were significantly higher at 4 weeks than at 1 and 2 weeks in the immobilization group. In the early stages of immobilization, upregulation of IL-1β/TGF-β1 via macrophages may promote fibroblast differentiation that could affect muscle contracture. The soleus muscle became hypoxic in the later stages of immobilization, suggesting that hypoxia influences the progression of muscle contracture. © 2014 Wiley Periodicals, Inc.

[Retrospective analysis of effects of metacarpus and phalanx traction on correction of scar contracture of hand after burn on the palm side].

Science.gov (United States)

Chunsheng, Hou; Qingye, Liu; Hongfei, Hao; Yuying, Dong; Feng, Wang; Jin, Lei

2015-06-01

To analyze the effects of metacarpus and phalanx traction on correction of scar contracture of hand after burn on the palm side retrospectively. A total of 32 patients with 39 affected hands with scar contracture on the palm side after burn were hospitalized from May 2010 to December 2014. Method of treatment: scar contracture was conservatively released followed by skin grafting, which was referred to as method A; Kirschner wire was inserted into the middle or distal phalanx of finger with contracture and the corresponding metacarpus in the shape of U for 2 to 7 weeks' traction, which was referred to as method B; traction frame was built based on the traction pile and anchor formed by Kirschner wire inserted through the second to the fifth metacarpus and distal phalanx of finger with contracture, and then the affected fingers were pulled into a straight position with rubber bands for 2 to 6 months, which was referred to as method C. Method A was used in patients who would be treated with thorough release of scar followed by skin grafting routinely. Method B was used in patients who would be treated with intramedullary Kirschner wire fixation after release of scar contracture and skin transplantation routinely. Method C was further used in patients when methods A and B failed to accomplish the expected result. Method C was used in the first place followed by method A in whom there might be vascular decompensation or exposure of tendon and bone after scar release, and those who failed to meet the expectation were treated with method C in addition. Patients who were unwilling to undergo surgery were treated with method C exclusively. During the course of treatment, the presence or absence of infection and slipping of Kirschner wire or its slitting through soft tissue were observed. The presence or absence of tendency of recurrence of scar contracture within 1 to 2 weeks after treatment was observed. The length of palmar skin measuring from the root of finger with

Analysis of Lethality and Malformations During Zebrafish (Danio rerio) Development.

Science.gov (United States)

Raghunath, Azhwar; Perumal, Ekambaram

2018-01-01

The versatility offered by zebrafish (Danio rerio) makes it a powerful and an attractive vertebrate model in developmental toxicity and teratogenicity assays. Apart from the newly introduced chemicals as drugs, xenobiotics also induce abnormal developmental abnormalities and congenital malformations in living organisms. Over the recent decades, zebrafish embryo/larva has emerged as a potential tool to test teratogenicity potential of these chemicals. Zebrafish responds to compounds as mammals do as they share similarities in their development, metabolism, physiology, and signaling pathways with that of mammals. The methodology used by the different scientists varies enormously in the zebrafish embryotoxicity test. In this chapter, we present methods to assess lethality and malformations during zebrafish development. We propose two major malformations scoring systems: binomial and relative morphological scoring systems to assess the malformations in zebrafish embryos/larvae. Based on the scoring of the malformations, the test compound can be classified as a teratogen or a nonteratogen and its teratogenic potential is evaluated.

Congenital complete atrioventricular block. Report of one case and literature review

International Nuclear Information System (INIS)

Diaz D, Alejandro; Serrano G, Ana; Guzman B, Monica; Ruz M, Miguel

2008-01-01

Complete congenital atrioventricular block is a rare entity that has a high morbidity and mortality. Its real incidence remains unknown and a high suspicion index is needed for its diagnosis and consequently for its early intervention. It is observed in children of mothers having connective tissue autoimmune diseases, in particular systemic lupus erythematosus, when the condition is congenital. If it is post-natal, congenital cardiopathies are responsible in most cases. It may al so appear in. structurally normal hearts. The characteristic clinical finding is persistent bradycardia manifested since intrauterine life and affecting the circulatory fetal stability, going as far as to produce hydrops fetalis, a serious and lethal condition. After birth, it appears with bradycardia as well, that may or not unbalance the patient hemodynamics. Diagnosis is made upon clinical suspicion with fetal echocardiography and when post-natal, through electrocardiogram and maternal antibody type antiRo and antiLa. Pacemaker implantation is the definitive treatment that contributes to improve patient survival and prognosis. We present the case of a premature female patient with 31 weeks of gestation due to non-immune hydrops in who complete atrioventricuiar block secondary to maternal lupus erythematosus confirmed by frankly positive anti-nuclear antibodies and positive antiRo and antiLa antibodies was diagnosed, and that received inotropic support after pace maker implantation. She improved completely from her heart failure and was sent to other institution for conventional management of premature

Disease: H01229 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available vely charged lysine (E706K). This region is important for myosin functioning during muscle contract...lysis. Clinical characteristics include congenital joint contractures, a progressive course in adulthood, an

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures

DEFF Research Database (Denmark)

Thevenon, Julien; Monnier, Nicole; Callier, Patrick

2014-01-01

, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 microdeletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low...

Rhizomelic chondrodysplasia punctata and cardiac pathology

NARCIS (Netherlands)

Huffnagel, Irene C.; Clur, Sally-Ann B.; Bams-Mengerink, Annemieke M.; Blom, Nico A.; Wanders, Ronald J. A.; Waterham, Hans R.; Poll-The, Bwee Tien

2013-01-01

Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital cataracts, facial dysmorphia, severe psychomotor defects and growth retardation. Biochemically, the levels of plasmalogens (major constituents of cellular

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.

Science.gov (United States)

Mercuri, Eugenio; Bushby, Kate; Ricci, Enzo; Birchall, Daniel; Pane, Marika; Kinali, Maria; Allsop, Joanna; Nigro, Vincenzo; Sáenz, Amets; Nascimbeni, Annachiara; Fulizio, Luigi; Angelini, Corrado; Muntoni, Francesco

2005-02-01

Limb girdle muscular dystrophy 2A is a common variant secondary to mutations in the calpain 3 gene. A proportion of patients has early and severe contractures, which can cause diagnostic difficulties with other conditions. We report clinical and muscle magnetic resonance imaging findings in seven limb girdle muscular dystrophy 2A patients (four sporadic and three familial) who had prominent and early contractures. All patients showed a striking involvement of the posterior thigh muscles. The involvement of the other thigh muscles was variable and was related to clinical severity. Young patients with minimal functional motor impairment showed a predominant involvement of the adductors and semimembranosus muscles while patients with restricted ambulation had a more diffuse involvement of the posterolateral muscles of the thigh and of the vastus intermedius with relative sparing of the vastus lateralis, sartorius and gracilis. At calf level all patients showed involvement of the soleus muscle and of the medial head of the gastrocnemius with relative sparing of the lateral head. MRI findings were correlated to those found in two patients with the phenotype of limb girdle muscular dystrophy 2A without early contractures and the pattern observed was quite similar. However, the pattern observed in limb girdle muscular dystrophy 2A is different from that reported in other muscle diseases such as Emery-Dreifuss muscular dystrophy and Bethlem myopathy which have a significant clinical overlap with limb girdle muscular dystrophy 2A once early contractures are present. Our results suggest that muscle MRI may help in recognising patients with limb girdle muscular dystrophy 2A even when the clinical presentation overlaps with other conditions, and may therefore, be used as an additional investigation to target the appropriate biochemical and genetic tests.

Validity of gait parameters for hip flexor contracture in patients with cerebral palsy

Directory of Open Access Journals (Sweden)

Lee Sang Hyeong

2011-01-01

Full Text Available Abstract Background Psoas contracture is known to cause abnormal hip motion in patients with cerebral palsy. The authors investigated the clinical relevance of hip kinematic and kinetic parameters, and 3D modeled psoas length in terms of discriminant validty, convergent validity, and responsiveness. Methods Twenty-four patients with cerebral palsy (mean age 6.9 years and 28 normal children (mean age 7.6 years were included. Kinematic and kinetic data were obtained by three dimensional gait analysis, and psoas lengths were determined using a musculoskeletal modeling technique. Validity of the hip parameters were evaluated. Results In discriminant validity, maximum psoas length (effect size r = 0.740, maximum pelvic tilt (0.710, maximum hip flexion in late swing (0.728, maximum hip extension in stance (0.743, and hip flexor index (0.792 showed favorable discriminant ability between the normal controls and the patients. In convergent validity, maximum psoas length was not significantly correlated with maximum hip extension in stance in control group whereas it was correlated with maximum hip extension in stance (r = -0.933, p Conclusions Maximum pelvic tilt, maximum psoas length, hip flexor index, and maximum hip extension in stance were found to be clinically relevant parameters in evaluating hip flexor contracture.

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Science.gov (United States)

Mercier, Sandra; Küry, Sébastien; Salort-Campana, Emmanuelle; Magot, Armelle; Agbim, Uchenna; Besnard, Thomas; Bodak, Nathalie; Bou-Hanna, Chantal; Bréhéret, Flora; Brunelle, Perrine; Caillon, Florence; Chabrol, Brigitte; Cormier-Daire, Valérie; David, Albert; Eymard, Bruno; Faivre, Laurence; Figarella-Branger, Dominique; Fleurence, Emmanuelle; Ganapathi, Mythily; Gherardi, Romain; Goldenberg, Alice; Hamel, Antoine; Igual, Jeanine; Irvine, Alan D; Israël-Biet, Dominique; Kannengiesser, Caroline; Laboisse, Christian; Le Caignec, Cédric; Mahé, Jean-Yves; Mallet, Stéphanie; MacGowan, Stuart; McAleer, Maeve A; McLean, Irwin; Méni, Cécile; Munnich, Arnold; Mussini, Jean-Marie; Nagy, Peter L; Odel, Jeffrey; O'Regan, Grainne M; Péréon, Yann; Perrier, Julie; Piard, Juliette; Puzenat, Eve; Sampson, Jacinda B; Smith, Frances; Soufir, Nadem; Tanji, Kurenai; Thauvin, Christel; Ulane, Christina; Watson, Rosemarie M; Khumalo, Nonhlanhla P; Mayosi, Bongani M; Barbarot, Sébastien; Bézieau, Stéphane

2015-10-15

Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients. Clinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected. Key features consist of: (i) early-onset poikiloderma, hypotrichosis and hypohidrosis; (ii) multiple contractures, in particular triceps surae muscle contractures; (iii) diffuse progressive muscular weakness; (iv) pulmonary fibrosis in adulthood and (v) other features including exocrine pancreatic insufficiency, liver impairment and growth retardation. Muscle magnetic resonance imaging was informative and showed muscle atrophy and fatty infiltration. Histological examination of skeletal muscle revealed extensive fibroadipose tissue infiltration. Microscopy of the skin showed a scleroderma-like aspect with fibrosis and alterations of the elastic network. FAM111B gene analysis identified five different missense variants (two recurrent mutations were found respectively in three and four independent families). All the mutations were predicted to localize in the trypsin-like cysteine/serine peptidase domain of the protein. We suggest gain-of-function or dominant-negative mutations resulting in FAM111B enzymatic activity changes. HFP with tendon contractures, myopathy and pulmonary fibrosis, is a multisystemic disorder due to autosomal dominant FAM111B mutations. Future functional studies will help in understanding the specific pathological process of this fibrosing disorder.

Spinal Muscular Atrophy

Science.gov (United States)

... most often affected. Complications include scoliosis and joint contractures—chronic shortening of muscles or tendons around joints, ... of SMA include: Congenital SMA with arthrogryposis (persistent contracture of joints with fixed abnormal posture of the ...

Decreasing Complications of Quadricepsplasty for Knee Contracture after Femoral Fracture Treatment with an External Fixator: Report of Four Cases

Directory of Open Access Journals (Sweden)

Naoya Kashiwagi

2013-01-01

Full Text Available Introduction: In performing quadricepsplasty for contracture that develops after application of an external fixator for femoral fractures, surgeons must be aware of the potential risk for re-fracture and pin-related problems. The purpose of this report is to highlight these not well-detailed complications and to discuss specific findings and treatment suggestions.Case Report: 4 men (mean age, 40 years presenting with secondary to contracture that developed after application of an external fixator for femoral fractures were included in this study. The radiographs showed union across the fracture site however two of these patients couldn't stand on one leg raising suspicion about the union status. A computed tomographic image indeed demonstrated limited continuity of the cortex. Bone grafting was performed prior to quadricepsplasty. The mean extension and flexion before the quadricepsplasty were 0o and 570 , respectively. At the final follow-up examination, the mean active flexion of the knee had increased to 98o.Results: The incidence of re-fracture during and after quadricepsplasty has been reported to be between 10 and 25%. There are 2 preoperative features that may mislead surgeons into believing that complete union of the fractures has been attained: one is the patient's ability to stand on a single leg, and the other is the fact that plain radiographs may lend themselves to different interpretations. In such cases, computed tomography will provide evidence of the continuity of the cortical bone. Bone grafting in 2 of our patients is thought to have prevented the postoperative complications of re-fracture. Complications at pin sites induce contracture at surrounding structures. When extreme tightness of the skin is noted, a tension-releasing procedure such as a skin graft should be performed.Conclusion: In conclusion, re-fracture or pin-site contracture should be carefully managed before quadricepsplasty, because the patients who need a

Magnitude of physiological curvatures of the spine and the incidence of contractures of selected muscle groups in students

OpenAIRE

Olszewska Elżbieta; Tabor Piotr; Czarniecka Renata

2018-01-01

Study aim: The aim of this study was to evaluate the incidence of contractures of selected muscle groups with respect to the magnitude of the physiological curvatures of the spine in young men with above-average levels of physical activity.

Inhibition of sarcoplasmic Ca2+-ATPase increases caffeine- and halothane-induced contractures in muscle bundles of malignant hyperthermia susceptible and healthy individuals

Directory of Open Access Journals (Sweden)

Roewer Norbert

2005-06-01

Full Text Available Abstract Background Malignant hyperthermia (MH is triggered by halogenated anaesthetics and depolarising muscle relaxants, leading to an uncontrolled hypermetabolic state of skeletal muscle. An uncontrolled sarcoplasmic Ca2+ release is mediated via the ryanodine receptor. A compensatory mechanism of increased sarcoplasmic Ca2+-ATPase activity was described in pigs and in transfected cell lines. We hypothesized that inhibition of Ca2+ reuptake via the sarcoplasmic Ca2+-ATPase (SERCA enhances halothane- and caffeine-induced muscle contractures in MH susceptible more than in non-susceptible skeletal muscle. Methods With informed consent, surplus muscle bundles of 7 MHS (susceptible, 7 MHE (equivocal and 16 MHN (non-susceptible classified patients were mounted to an isometric force transducer, electrically stimulated, preloaded and equilibrated. Following 15 min incubation with cyclopiazonic acid (CPA 25 μM, the European MH standard in-vitro-contracture test protocol with caffeine (0.5; 1; 1.5; 2; 3; 4 mM and halothane (0.11; 0.22; 0.44; 0.66 mM was performed. Data as median and quartiles; Friedman- and Wilcoxon-test for differences with and without CPA; p Results Initial length, weight, maximum twitch height, predrug resting tension and predrug twitch height of muscle bundles did not differ between groups. CPA increased halothane- and caffeine-induced contractures significantly. This increase was more pronounced in MHS and MHE than in MHN muscle bundles. Conclusion Inhibition of the SERCA activity by CPA enhances halothane- and caffeine-induced contractures especially in MHS and MHE skeletal muscle and may help for the diagnostic assignment of MH susceptibility. The status of SERCA activity may play a significant but so far unknown role in the genesis of malignant hyperthermia.

Pneumatic-type dynamic traction and flexion splint for treating patients with extension contracture of the metacarpophalangeal joint.

Science.gov (United States)

Nakayama, Jun; Horiki, Mituru; Denno, Kakurou; Ogawa, Kazunori; Oka, Hisao; Domen, Kazuhisa

2016-02-01

Collateral ligament shortening causes extension contractures of the metacarpophalangeal joint, and dynamic flexion splinting has been widely used to treat these contractures; however, there are various problems with these approaches. We developed a novel, pneumatic-type dynamic traction and flexion splint to solve these problems. A total of 25 fingers were treated with the dynamic traction and flexion splint for 8 weeks. Every 2 weeks, the average metacarpophalangeal joint flexion angle, total active motion, grasp strength, and pain scores were assessed. The finger flexion angle was significantly greater at the final evaluation, starting after 6 weeks of treatment (p < 0.05), than prior to treatment. Similarly, the total active motion results improved significantly over 8 weeks. Our results show that use of the dynamic traction and flexion splint improves patient finger functioning and flexural angle. The dynamic traction and flexion (DTF) splint appears to be effective for treating patients. © The International Society for Prosthetics and Orthotics 2015.

Iliac hyperdense line: a new X-ray sign of gluteal muscle contracture

International Nuclear Information System (INIS)

Cai Jinhua; Gan Lanfeng; Zheng Helin; He Ling; Yu Guorong

2003-01-01

Objective: To elucidate the relationship between gluteal muscle contracture (GMC) and the iliac hyperdense line on pelvic plain film, and to explore how the iliac hyperdense line is formed. Methods: The pelvic plain films of 103 cases with GMC confirmed by operation and those of 200 individuals as control were analyzed. Pelvic CT scanning was performed in 8 cases GMC and 13 cases of normal controls. Results: The iliac hyperdense line at the side of sacroiliac joint was found on the pelvic plain film in 85 of 103 cases with GMC and 5 of 200 in control group. In 103 cases of GMC, the iliac hyperdense line was detected in 81 of 88 patients beyond 5 years, and 83 of 94 was mostly the gluteus maximus contracture. In control group, pelvic CT showed that the outer cortex of posterior ilium at the level of sacroiliac joint appeared as an oblique plane, oriented from posteromedial side to anterolateral side, while in GMC group, the oblique plane became steeper and almost oriented posteroanteriorly. In addition, the posterior part of the ilium which gave the attachment of contracted gluteus maximus muscle deformed and widened. Conclusion: The iliac hyperdense line on the pelvic plain film is resulted from the long and persistent pulling effect of contracted gluteus maximus muscle, which causes the change the oblique plane of posterior ilium into a posteroanterior course parallel to the X-ray beam

Three-dimensional Reconstruction of Scar Contracture-bearing Axilla and Digital Webs Using the Square Flap Method

Directory of Open Access Journals (Sweden)

Chenyu Huang, MD, PhD

2014-05-01

Conclusions: When used to treat joint scar contractures, the square flap method can fully span the web space in a stereometric manner, thus yielding a close-to-original shape and function. Compared with the classical Z-plasties, it also provides sufficient anatomical blood supply while imposing the least physiological tension on the adjacent skin.

Magnitude of physiological curvatures of the spine and the incidence of contractures of selected muscle groups in students

Directory of Open Access Journals (Sweden)

Olszewska Elżbieta

2018-02-01

Full Text Available Study aim: The aim of this study was to evaluate the incidence of contractures of selected muscle groups with respect to the magnitude of the physiological curvatures of the spine in young men with above-average levels of physical activity.

Congenital Hypothyroidism

Science.gov (United States)

... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

Muscle changes in brachial plexus birth injury with elbow flexion contracture: an MRI study

Energy Technology Data Exchange (ETDEWEB)

Poeyhiae, Tiina H; Koivikko, Mika P; Lamminen, Antti E [University of Helsinki, Helsinki Medical Imaging Center, Helsinki (Finland); Peltonen, Jari I; Nietosvaara, A Y [Helsinki University Central Hospital, Hospital for Children and Adolescents, Helsinki (Finland); Kirjavainen, Mikko O [Helsinki University Central Hospital, Department of Orthopaedics and Traumatology, Helsinki (Finland)

2007-02-15

Muscle pathology of the arm and forearm in brachial plexus birth injury (BPBI) with elbow flexion contracture has not been evaluated with MRI. To determine whether limited range of motion of the elbow in BPBI is correlated with specific patterns of muscular pathology. For 15 BPBI patients, total active motion (TAM) of the elbow (extension-flexion) and the forearm (pronation-supination) were measured. MRI of the elbow joints and musculature allowed assessment of elbow congruency. Fatty infiltration and size reduction of the muscles were graded semiquantitatively. Mean TAM of the elbow was 113 (50 -140 ) and that of the forearm 91 (10 -165 ). The greater the size reduction of the brachioradialis muscle, the more diminished was elbow TAM. The more extensive the BPBI and muscle pathology of the pronator teres muscle, the more limited was the TAM of the forearm. Pathology of the supinator and brachialis muscles was evident in every patient. Extensive BPBI may result in marked limitation of TAM. Elbow flexion contracture seems to be caused mainly by brachialis muscle pathology. Prosupination of the forearm is better preserved when the pronator teres is not severely affected. MRI can reliably show the extent of muscle pathology in BPBI. (orig.)

Muscle changes in brachial plexus birth injury with elbow flexion contracture: an MRI study

International Nuclear Information System (INIS)

Poeyhiae, Tiina H.; Koivikko, Mika P.; Lamminen, Antti E.; Peltonen, Jari I.; Nietosvaara, A.Y.; Kirjavainen, Mikko O.

2007-01-01

Muscle pathology of the arm and forearm in brachial plexus birth injury (BPBI) with elbow flexion contracture has not been evaluated with MRI. To determine whether limited range of motion of the elbow in BPBI is correlated with specific patterns of muscular pathology. For 15 BPBI patients, total active motion (TAM) of the elbow (extension-flexion) and the forearm (pronation-supination) were measured. MRI of the elbow joints and musculature allowed assessment of elbow congruency. Fatty infiltration and size reduction of the muscles were graded semiquantitatively. Mean TAM of the elbow was 113 (50 -140 ) and that of the forearm 91 (10 -165 ). The greater the size reduction of the brachioradialis muscle, the more diminished was elbow TAM. The more extensive the BPBI and muscle pathology of the pronator teres muscle, the more limited was the TAM of the forearm. Pathology of the supinator and brachialis muscles was evident in every patient. Extensive BPBI may result in marked limitation of TAM. Elbow flexion contracture seems to be caused mainly by brachialis muscle pathology. Prosupination of the forearm is better preserved when the pronator teres is not severely affected. MRI can reliably show the extent of muscle pathology in BPBI. (orig.)

Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

Directory of Open Access Journals (Sweden)

L. Yu. Barycheva

2015-01-01

Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

[Comparative Cost Effectiveness of Clostridium Histolyticum Collagenase (Xiapex®) and Partial Fasciectomy for the Treatment of Dupuytren's Contracture in Austria].

Science.gov (United States)

Neuwirth, M; Binter, A; Pipam, W; Rab, M

2016-08-01

Since Dupuytren's contracture is a common disorder, the costs for its surgical treatment impose a considerable burden on the healthcare system. For the first time in the German-speaking area, this study aimed to provide a comparative cost-effectiveness analysis for partial fasciectomy vs. treatment with Clostridium histolyticum collagenase (CCH). A retrospective monocentric study of the period from 2012 to 2014 comprised 40 patients with previously untreated Dupuytren's contracture of one finger. 20 outpatients received one CCH treatment (Group 1), while 20 inpatients underwent partial fasciectomy (Group 2). The direct pre-interventional treatment and post-interventional costs were compared. The direct post-interventional and postoperative results were comparable. Group 1 (CCH) showed a mean reduction in contracture of 96.4%; in Group 2 (partial fasciectomy), this was 97.7%. There were fewer complications in Group 1 than in Group 2. Mean treatment costs in Group 1 were € 1 458.60 and in Group 2, € 5 315.20. Treatment with CCH is more cost effective than with partial fasciectomy. This is due to greater costs for personnel, time and surgical material, as well as the treatment of the more frequent complications in Group 2. Despite the limited comparability, our findings are consistent with the present international literature. © Georg Thieme Verlag KG Stuttgart · New York.

Mitochondrial disorders in congenital myopathies

Directory of Open Access Journals (Sweden)

D. A. Kharlamov

2014-01-01

Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

Cardiac arrhythmia with premature ventricular contractures induced by interferon beta in a patient with multiple sclerosis

Directory of Open Access Journals (Sweden)

Igor Sobol

2015-03-01

Full Text Available Multiple sclerosis (MS is an immune-mediated inflammatory and neurodegenerative disease of the central nervous system. Interferon (IFN beta is an active ingredient of five out of twelve disease modifying treatments approved for MS. We report a case of IFN-beta-induced cardiac arrhythmia with premature ventricular contractures in a patient recently diagnosed with MS.

Gluteal muscle contracture: diagnosis and management options

Science.gov (United States)

Rai, Saroj; Meng, Chunqing; Wang, Xiaohong; Chaudhary, Nabin; Jin, Shengyang; Yang, Shuhua; Wang, Hong

2017-01-01

Gluteal muscle contracture (GMC), a debilitating disease, exists all over the globe but it is much more prevalent in China. Patients typically present with abduction and external rotation of the hip and are unable to bring both the knees together while squatting. Multiple etiologies have been postulated, the commonest being repeated intramuscular injection into the buttocks. The disease is diagnosed primarily by clinical features but radiological features are necessary for the exclusion of other pathological conditions. Non-operative treatment with physiotherapy can be tried before surgery is considered but it usually fails. Different surgical techniques have been described and claimed to have a better outcome of one over another but controversy still exists. Based on published literatures, the clinical outcome is exceptionally good in all established methods of surgery. However, endoscopic surgery is superior to conventional open surgery in terms of cosmetic outcome with fewer complications. Nevertheless, its use has been limited by lack of adequate knowledge, instrumentations, and some inherent limitations. Above all, post-operative rehabilitation plays a key role in better outcome, which however should be started gradually. PMID:28059055

Transcriptional abnormalities of hamstring muscle contractures in children with cerebral palsy.

Science.gov (United States)

Smith, Lucas R; Chambers, Henry G; Subramaniam, Shankar; Lieber, Richard L

2012-01-01

Cerebral palsy (CP) is an upper motor neuron disease that results in a spectrum of movement disorders. Secondary to the neurological lesion, muscles from patients with CP are often spastic and form debilitating contractures that limit range of motion and joint function. With no genetic component, the pathology of skeletal muscle in CP is a response to aberrant complex neurological input in ways that are not fully understood. This study was designed to gain further understanding of the skeletal muscle response in CP using transcriptional profiling correlated with functional measures to broadly investigate muscle adaptations leading to mechanical deficits.Biopsies were obtained from both the gracilis and semitendinosus muscles from a cohort of patients with CP (n = 10) and typically developing patients (n = 10) undergoing surgery. Biopsies were obtained to define the unique expression profile of the contractures and passive mechanical testing was conducted to determine stiffness values in previously published work. Affymetrix HG-U133A 2.0 chips (n = 40) generated expression data, which was validated for selected transcripts using quantitative real-time PCR. Chips were clustered based on their expression and those from patients with CP clustered separately. Significant genes were determined conservatively based on the overlap of three summarization algorithms (n = 1,398). Significantly altered genes were analyzed for over-representation among gene ontologies and muscle specific networks.The majority of altered transcripts were related to increased extracellular matrix expression in CP and a decrease in metabolism and ubiquitin ligase activity. The increase in extracellular matrix products was correlated with mechanical measures demonstrating the importance in disability. These data lay a framework for further studies and development of novel therapies.

Transcriptional abnormalities of hamstring muscle contractures in children with cerebral palsy.

Directory of Open Access Journals (Sweden)

Lucas R Smith

Full Text Available Cerebral palsy (CP is an upper motor neuron disease that results in a spectrum of movement disorders. Secondary to the neurological lesion, muscles from patients with CP are often spastic and form debilitating contractures that limit range of motion and joint function. With no genetic component, the pathology of skeletal muscle in CP is a response to aberrant complex neurological input in ways that are not fully understood. This study was designed to gain further understanding of the skeletal muscle response in CP using transcriptional profiling correlated with functional measures to broadly investigate muscle adaptations leading to mechanical deficits.Biopsies were obtained from both the gracilis and semitendinosus muscles from a cohort of patients with CP (n = 10 and typically developing patients (n = 10 undergoing surgery. Biopsies were obtained to define the unique expression profile of the contractures and passive mechanical testing was conducted to determine stiffness values in previously published work. Affymetrix HG-U133A 2.0 chips (n = 40 generated expression data, which was validated for selected transcripts using quantitative real-time PCR. Chips were clustered based on their expression and those from patients with CP clustered separately. Significant genes were determined conservatively based on the overlap of three summarization algorithms (n = 1,398. Significantly altered genes were analyzed for over-representation among gene ontologies and muscle specific networks.The majority of altered transcripts were related to increased extracellular matrix expression in CP and a decrease in metabolism and ubiquitin ligase activity. The increase in extracellular matrix products was correlated with mechanical measures demonstrating the importance in disability. These data lay a framework for further studies and development of novel therapies.

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2

NARCIS (Netherlands)

Ofman, R.; Hettema, E. H.; Hogenhout, E. M.; Caruso, U.; Muijsers, A. O.; Wanders, R. J.

1998-01-01

Rhizomelic chondrodysplasia punctata (RCDP) is a genetic disorder which is clinically characterized by rhizomelic shortening of the upper extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and mental retardation. Patients with RCDP can be subdivided into

Cytomegalovirus Congenital Cataract

Directory of Open Access Journals (Sweden)

Ridha Wahyutomo

2011-06-01

Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

Collagenase clostridium histolyticum for the treatment of Dupuytren's contracture: systematic review and economic evaluation.

Science.gov (United States)

Brazzelli, Miriam; Cruickshank, Moira; Tassie, Emma; McNamee, Paul; Robertson, Clare; Elders, Andrew; Fraser, Cynthia; Hernandez, Rodolfo; Lawrie, David; Ramsay, Craig

2015-10-01

Dupuytren's disease is a slowly progressive condition of the hand, characterised by the formation of nodules in the palm that gradually develop into fibrotic cords. Contracture of the cords produces deformities of the fingers. Surgery is recommended for moderate and severe contractures, but complications and/or recurrences are frequent. Collagenase clostridium histolyticum (CCH) has been developed as a minimally invasive alternative to surgery for some patients. To assess the clinical effectiveness and cost-effectiveness of collagenase as an alternative to surgery for adults with Dupuytren's contracture with a palpable cord. We searched all major electronic databases from 1990 to February 2014. Randomised controlled trials (RCTs), non-randomised comparative studies and observational studies involving collagenase and/or surgical interventions were considered. Two reviewers independently extracted data and assessed risk of bias of included studies. A de novo Markov model was developed to assess cost-effectiveness of collagenase, percutaneous needle fasciotomy (PNF) and limited fasciectomy (LF). Results were reported as incremental cost per quality-adjusted life-year (QALY) gained. Deterministic and probabilistic sensitivity analyses were undertaken to investigate model and parameter uncertainty. Five RCTs comparing collagenase with placebo (493 participants), three RCTs comparing surgical techniques (334 participants), two non-randomised studies comparing collagenase and surgery (105 participants), five non-randomised comparative studies assessing various surgical procedures (3571 participants) and 15 collagenase case series (3154 participants) were included. Meta-analyses of RCTs assessing CCH versus placebo were performed. Joints randomised to collagenase were more likely to achieve clinical success. Collagenase-treated participants experienced significant reduction in contracture and an increased range of motion compared with placebo-treated participants

Spastic paretic hemifacial contracture as a presenting feature of multiple sclerosis.

Science.gov (United States)

Koutsis, Georgios; Breza, Marianthi; Evangelopoulos, Maria-Eleftheria; Anagnostouli, Maria; Andreadou, Elisavet; Karagiorgis, Georgios; Kokotis, Panagiotis; Kilidireas, Costas; Karandreas, Nikolaos

2017-04-01

Spastic paretic hemifacial contracture (SPHC) is characterized by sustained unilateral contraction of the facial muscles associated with mild ipsilateral facial paresis. Rarely described in the context of multiple sclerosis (MS), it has never been reported as presenting symptom of MS. Two patients developed SPHC within the context of a clinically isolated syndrome suggestive of MS. EMG revealed continuous resting activity of irregularly firing motor unit potentials, associated with impaired recruitment upon voluntary contraction. SPHC remitted fully in both patients. SPHC, a rare but distinct clinical and EMG entity, can occasionally be the presenting feature of MS. Copyright © 2017 Elsevier B.V. All rights reserved.

Factors influencing circadian rhythms in acetaminophen lethality.

Science.gov (United States)

Schnell, R C; Bozigian, H P; Davies, M H; Merrick, B A; Park, K S; McMillan, D A

1984-01-01

Experiments were conducted to examine the effects of changes in lighting schedules and food consumption on circadian rhythms in acetaminophen lethality and hepatic glutathione levels in male mice. Under a normal lighting schedule (light: 06.00-18.00 h), male mice exhibited a circadian rhythm in acetaminophen lethality (peak: 18.00 h; nadir: 06.00, 10.00 h) and an inverse rhythm in hepatic glutathione concentrations (peak: 06.00, 10.00 h; nadir: 18.00 h). Under a reversed lighting schedule (light: 18.00-06.00 h) the glutathione rhythm was reversed and the rhythm in acetaminophen lethality was altered showing greater sensitivity to the drug. Under continuous light, there was a shift in the acetaminophen lethality and the hepatic glutathione rhythms. Under continuous dark, both rhythms were abolished. Under a normal lighting regimen, hepatic glutathione levels were closely correlated with food consumption; i.e., both were increased during the dark phase and decreased during the light phase. Fasting the mice for 12 h abolished the rhythms in acetaminophen lethality and hepatic glutathione levels; moreover, the lethality was increased and the hepatic glutathione levels were decreased. These experiments show that both lighting schedules and feeding can alter the circadian rhythms in acetaminophen lethality and hepatic glutathione levels in male mice.

Anthelmintics, used for the treatment of fascioliasis as uncouplers of oxidative phosphorylation in warm blooded animals

NARCIS (Netherlands)

Miert, A.S.J.P.A.M. van; Groeneveld, H.W.

1969-01-01

Dinitrophenol and liverfluke anthelmintics such as niclofolan, nitroxynil, bromophenophos and hexachlorophene increased ATP-ase activity of rat-liver mitochondria and caused a contracture of striated muscle in vitro. After lethal doses, rigidity occured soon after deatth. It is postulated that these

The application of MRI in gluteal muscle contracture

International Nuclear Information System (INIS)

Zhao Tao; You Yuhua; Sun Jing; Cheng Kebin; Liu Wei; Qu Hui

2003-01-01

Objective: To evaluate the MRI findings and its diagnostic value in gluteal muscle contracture (GMC). Methods: Eleven clinic or operation confirmed GMC patients were examined by plain X-ray and MRI. Conventional T 1 WI and T 2 WI MR imaging were performed and FFE-T 2 WI (fast field echo-T 2 WI) was also scanned. CT scan was conducted in 5 cases. Results: 11 GMC patients were all diagnosed by MRI. Conventional T 1 WI and T 2 WI could only show the atrophy of gluteal muscles, while FFE-T 2 WI could directly show the fibrous band of gluteal muscle and its fascia, and the fibrous band appeared as low signal intensity on FFE-T 2 WI sequence. Conclusions: MRI is the efficient modality in imaging the fibrous band for GMC patients, and FFE-T 2 WI is the most valuable sequence. MRI is very helpful in the diagnosis and treatment of GMC

Surgical Treatment of Dupuytren's Contracture; Results and Complications of Surgery: Our Experience.

Science.gov (United States)

Khan, Parwez Sajad; Iqbal, Shabir; Zaroo, Inam; Hayat, Humera

2010-12-01

Dupuytren's disease is one of the fibro-proliferative conditions affecting the palmar and digital fascia. This disease has been known to surgeons and treated by them for at least 200 years. Dupuytren's disease is very common in Northern Europe and also in countries inhabited by immigrants from Northern Europe. Dupuytren's contracture is stated to be uncommon in Indian subcontinent and very little has been written about this disease in India. The authors have however come across 30 patients with Dupuytren's contracture and they are the subject of this paper, with special emphasis on its surgical correction and complications of surgical treatment. Patients were categorized into stages I, II and III as per the severity of disease. Regional fasciectomy was performed in 90% of the patients and extensive fasciectomy in 10% of patients. Most of wounds were closed by primary closure with z-plasty. In rest of the patients free skin grafts were used to close the wound, when primary closure was not possible. The patients were followed up regularly for 5 years and the results of surgical treatment were categorized into excellent, good, fair and poor. The results were excellent in 23 patients (76.66%), good in six patients (20%) and fair in one patient (3.33%). Post operative edema and some stiffness was seen in two patients. Wound infection was seen in one patient and haematoma in one patient. The correct surgical technique and meticulous post operative care is needed to achieve higher rates of correction and to limit the complications and recurrence.

A diabetic patient presenting with stiff hand following fasciectomy for Dupuytren's contracture: A case report.

Science.gov (United States)

Fournier, Katia; Papanas, Nikolaos; Compson, Jonathan P; Maltezos, Efstratios

2008-10-27

Reported is the case of a 68-year-old male presenting with severe wrist and hand stiffness following surgery for a Dupuytren's contracture. Complications of surgery or rehabilitation and complex regional pain syndrome were excluded as factors explaining this stiffness. Given the patient's diabetes mellitus and the striking similarity with the typical diabetic stiff hand, it is suggested that diabetes may have contributed to the development of the complication.

[Detection of peranesthetic malignant hyperthermia by muscle contracture tests and NMR spectroscopy].

Science.gov (United States)

Kozak-Reiss, G; Gascard, J P; Redouane-Bénichou, K

1986-01-01

To diagnose malignant hyperthermia susceptibility (MHS), caffeine and halothane contracture tests were performed on six patients. One of them, who presented a peroperative crisis, was recognized as MHS; the five others were negative (MHN). By means of 31P-NMR spectroscopy, the muscular energetic metabolism of these patients was studied during and after moderate exercise in normal and moderate ischaemic conditions. Metabolic abnormalities appeared in the MHS patient. It must be concluded therefore that malignant hyperthermia is a latent myopathy. 31P-NMR spectroscopy appeared to be a useful non-invasive tool for screening for this affliction.

Neglected post burns contracture of hand in children: Analysis of contributory socio-cultural factors and the impact of neglect on outcome.

Science.gov (United States)

Gupta, Ravi Kumar; Jindal, Nipun; Kamboj, Kulbhushan

2014-12-01

No study has ever evaluated the causes and effect of neglect on the outcome of post burns contractures of hand in children. 66 hands in 61 children (mean age 12.22 years) with a mean neglect of 11.6 years (range 5-17 years) were assessed for the causes of neglect and the outcome of surgery. Average follow up was 6.6 years. The results were assessed in two groups of 5-10 years neglect as group I and >10 years neglect as group II. In a total number of 134 contracted rays in 66 hands, the surgical procedures included local Z/V-Y flap (51 rays), cross finger flap (48 rays), full thickness graft (35 rays). Additional external fixator with a distracter was used in 3 patients treated at a delay of 14, 16 and 17 years. 50 (81.96%) patients belonged to rural and slum areas. The reasons for delayed treatment included poverty - 33 patients, lack of awareness of surgical treatment - 16 patients; and indifference of parents - 12 patients. 44 (72.13%) children were illiterates. With treatment the average DASH score improved from 65.10 to 36.90 (p neglect in treatment of post burns contracture include poverty, lack of awareness and illiteracy. All the patients showed significant improvement in function after the surgery. Contractures with higher neglect had significantly inferior outcome.

Congenital Abnormalities

Science.gov (United States)

... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

Congenital tuberculosis

African Journals Online (AJOL)

Prof Ezechukwu

2012-06-20

Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

Giant congenital aneurysm of the appendix of the left auricle; an entity potentially lethal

International Nuclear Information System (INIS)

Perafan, Sergio; Ascione, Giovanny; Parra, Luis E; Jimenez, Luz S

2004-01-01

The case of a 22 years old female patient who at 16 years of age suffered a closed thoracic trauma during a car accident is reported. She underwent surgery under extra corporeal circulation with femoro-femoral cannulation with the diagnosis of rupture of the left atrium. a large aneurysm of the left auricle without evidence of heart trauma, pericardial leakage or hemo pericardium, was found. The surgeon decided not to perform surgery on the aneurysm and to withdraw the extra corporeal circulation, proceeding to suture the patient, who was released with the recommendation of performing additional studies in order to consider the handling of the aneurysm. Six years later she is sent to our institution with the diagnosis of cerebral embolism with left hemiparesis, and a giant partially thrombosed left auricle aneurysm. With a diagnosis of an embolizing partially thrombosed aneurysm of the left auricle she underwent surgery under extracorporeal circulation in order to resect it. The case with the intraoperative findings and the surgical technique are described. Different manifestations and expressions of this potentially lethal rare entity are detailed, concluding that it is imperative to resect surgically the aneurysm once it has been diagnosed

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

Science.gov (United States)

Maluenda, Jérôme; Manso, Constance; Quevarec, Loic; Vivanti, Alexandre; Marguet, Florent; Gonzales, Marie; Guimiot, Fabien; Petit, Florence; Toutain, Annick; Whalen, Sandra; Grigorescu, Romulus; Coeslier, Anne Dieux; Gut, Marta; Gut, Ivo; Laquerrière, Annie; Devaux, Jérôme; Melki, Judith

2016-10-06

Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through linkage analysis, homozygosity mapping, and exome sequencing in four unrelated families affected by lethal AMC, we identified biallelic mutations in GLDN in the affected individuals. GLDN encodes gliomedin, a secreted cell adhesion molecule involved in the formation of the nodes of Ranvier. Transmission electron microscopy of the sciatic nerve from one of the affected individuals showed a marked lengthening defect of the nodes. The GLDN mutations found in the affected individuals abolish the cell surface localization of gliomedin and its interaction with its axonal partner, neurofascin-186 (NF186), in a cell-based assay. The axoglial contact between gliomedin and NF186 is essential for the initial clustering of Na + channels at developing nodes. These results indicate a major role of gliomedin in node formation and the development of the peripheral nervous system in humans. These data indicate that mutations of GLDN or CNTNAP1 (MIM: 616286), encoding essential components of the nodes of Ranvier and paranodes, respectively, lead to inherited nodopathies, a distinct disease entity among peripheral neuropathies. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Lethal and sub-lethal effects of five pesticides used in rice farming on the earthworm Eisenia fetida

NARCIS (Netherlands)

Rico, Andreu; Sabater, Consuelo; Castillo, María Ángeles

2016-01-01

The toxicity of five pesticides typically used in rice farming (trichlorfon, dimethoate, carbendazim, tebuconazole and prochloraz) was evaluated on different lethal and sub-lethal endpoints of the earthworm Eisenia fetida. The evaluated endpoints included: avoidance behaviour after an exposure

Lethal Epistaxis.

Science.gov (United States)

Byard, Roger W

2016-09-01

Epistaxis or nosebleed refers to bleeding from the nostrils, nasal cavity, or nasopharynx. Occasional cases may present with torrential lethal hemorrhage. Three cases are reported to demonstrate particular features: Case 1: A 51-year-old woman with lethal epistaxis with no obvious bleeding source; Case 2: A 77-year-old man with treated nasopharyngeal carcinoma who died from epistaxis arising from a markedly neovascularized tumor bed; Case 3: A 2-year-old boy with hemophilia B who died from epistaxis with airway obstruction in addition to gastrointestinal bleeding. Epistaxis may be associated with trauma, tumors, vascular malformations, bleeding diatheses, infections, pregnancy, endometriosis, and a variety of different drugs. Careful dissection of the nasal cavity is required to locate the site of hemorrhage and to identify any predisposing conditions. This may be guided by postmortem computerized tomographic angiography (PCTA). Despite careful dissection, however, a source of bleeding may never be identified. © 2016 American Academy of Forensic Sciences.

Congenital orbital teratoma

OpenAIRE

Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

2013-01-01

We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The p...

Fukuyama type congenital muscular dystrophy with unusual features

International Nuclear Information System (INIS)

Mori, Hideo; Oguni, Hirokazu; Osawa, Makiko; Suzuki, Haruko; Fukuyama, Yukio

1980-01-01

The Fukuyama type congenital muscular dystrophy (F-CMD) has been generally recognized as a well delineated subgroup of progressive muscular dystrophy (PMD) with uniform clinical, pathological, and genetic features. However, there are still debate to be solved as to the etiology of the condition, because several neuropathological findings found in F-CMD brain allowed some investigators to hypothesize the intrauterine infection to be a primary causation. The authors reported here two families with two affected siblings in each. In the pedigree A, consanguineous parents produced two sisters, Case 1 (3-year-old) and Case 2 (14-month-old). Two patients in the pedigree B, the products of non-consanguineous parents, Case 3 (4-month-old male) and his elder sister already decreased, were affected with F-CMD and infantile spasms. In all cases, generalized weakness and hypotonia had been remarkable since their early infancy, and muscle atrophy, myopathic facies multiple joint contractures and mental dullness became evident gradually. The above-mentioned clinical features as well as laboratory findings including elevated serum CPK and myogenic EMG were compatible with those of typical F-CMD. However, they were characterized by the following three unusual features. 1. Muscle biopsy: In addition to an overwhelming myogenic change, there was a distinct inflammatory cell infiltration in all cases, and scattered small groups of atrophic fibers were present in Case 2. 2. Brain CT scanning: A symmetrical and extensive low density area was observed in the cerebral white matter in all cases. 3. A favorable response to prednisolone therapy was noted in all cases. (author)

Muscle contractures in patients with cerebral palsy and acquired brain injury are associated with extracellular matrix expansion, pro-inflammatory gene expression, and reduced rRNA synthesis.

Science.gov (United States)

von Walden, Ferdinand; Gantelius, Stefan; Liu, Chang; Borgström, Hanna; Björk, Lars; Gremark, Ola; Stål, Per; Nader, Gustavo A; Pontén, Eva

2018-03-23

Children with cerebral palsy (CP) and acquired brain injury (ABI) commonly develop muscle contractures with advancing age. An underlying growth defect contributing to skeletal muscle contracture formation in CP/ABI has been suggested. The biceps muscles of children and adolescents with CP/ABI (n=20) and typically developing controls (n=10) were investigated. We used immunohistochemistry, qRT-PCR and western blotting to assess gene expression relevant to growth and size homeostasis. Classical pro-inflammatory cytokines and genes involved in extracellular matrix production were elevated in skeletal muscle of children with CP/ABI. Intramuscular collagen content was increased and satellite cell number decreased and this was associated with reduced levels of RNA polymerase (POL) I transcription factors, 45s pre-rRNA and 28S rRNA. The present study provides novel data suggesting a role for pro-inflammatory cytokines and reduced ribosomal production in the development/maintenance of muscle contractures; possibly underlying stunted growth and perimysial extracellular matrix expansion. This article is protected by copyright. All rights reserved. © 2018 Wiley Periodicals, Inc.

Comparing Life Quality Strategies and Emotion Regulation in People with Congenital and Non-Congenital Motor Disability

Directory of Open Access Journals (Sweden)

Seyedeh Zeynab Miraghaei

2017-10-01

Full Text Available Objective: The purpose of the present study was to compare emotion regulation strategies and life quality of people with congenital and non-congenital motor disabilities. Method: This study is a casual-comparative study and its population consisted of all people with congenital and non-congenital motor disability in Kahrizak Charity Foundation in Tehran in 2016. To conduct the study, available sampling method was used, and congenital and non-congenital disabled people were selected (200 people. To collect data, Cognitive Emotion Regulation Scale by Granovsky and life quality questionnaire were used. Research hypotheses were tested using multivariate analysis of variance. Results: The findings of this study showed that there is a significant difference between emotion regulation components in people with congenital and non-congenital disabilities (p<0.05. Also, according to the findings, a significant difference was observed between life quality dimensions (physical and mental health in people with congenital and non-congenital disabilities (p<0.05. Conclusion: According to the significant difference between two groups of subjects, necessary measures regarding consultation and psychotherapy should be taken into consideration to let people benefit from desirable mental health level.

Key aspects congenital infection

Directory of Open Access Journals (Sweden)

Yu. V. Lobzin

2014-01-01

Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

A randomized controlled trial of surface neuromuscular electrical stimulation applied early after acute stroke: effects on wrist pain, spasticity and contractures.

Science.gov (United States)

Malhotra, Shweta; Rosewilliam, Sheeba; Hermens, Hermie; Roffe, Christine; Jones, Peter; Pandyan, Anand David

2013-07-01

To investigate effects of surface neuromuscular electrical stimulation applied early after stroke to the wrist and finger extensor muscles on upper limb pain, spasticity and contractures in patients with no functional arm movement. Secondary analysis from a Phase II, randomized, controlled, single-blind study. An acute hospital stroke unit. Patients with no useful arm function within six weeks of a first stroke. Patients were randomized to treatment (30-minute sessions of surface neuromuscular stimulation to wrist and finger extensors and 45 minutes of physiotherapy) or control (45 minutes of physiotherapy) groups. All patients had access to routine care. Treatment was given for six weeks from recruitment. Ninety patients (49% male, median age 74 years (range 32-98), median time since stroke onset three weeks (range one to six weeks)) were included. Treatment compliance was variable (mean 28%). The treatment prevented the development of pain (mean difference in rate of change 0.4 units/week, 95% confidence interval (CI) 0.09 to 0.6). Treatment may have prevented a deterioration in contractures (quantified by measuring passive range of movement) in severely disabled patients (mean rate of deterioration -0.5 deg/week; 95% CI -0.9 to -0.06). There were no significant changes in stiffness and spasticity. Surface neuromuscular electrical stimulation reduces pain in stroke patients with a non-functional arm. There was some evidence that treatment with electrical stimulation was beneficial in reducing contractures. Treatment had no effect on spasticity.

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

Science.gov (United States)

Whyte, Michael P; McAlister, William H; Fallon, Michael D; Pierpont, Mary Ella; Bijanki, Vinieth N; Duan, Shenghui; Otaify, Ghada A; Sly, William S; Mumm, Steven

2017-04-01

In 1985, we briefly reported infant sisters with a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification. In 1986, this condition was entered into Mendelian Inheritance In Man (MIM) as osteomalacia, sclerosing, with cerebral calcification (MIM 259660). However, no attestations followed. Instead, in 1989 Raine and colleagues published an affected neonate considering unprecedented the striking clinical and radiographic features. In 1992, "Raine syndrome" entered MIM formally as osteosclerotic bone dysplasia, lethal (MIM #259775). In 2007, the etiology emerged as loss-of-function mutation of FAM20C that encodes family with sequence similarity 20, member C. FAM20C is highly expressed in embryonic calcified tissues and encodes a kinase (dentin matrix protein 4) for most of the secreted phosphoproteome including FGF23, osteopontin, and other regulators of skeletal mineralization. Herein, we detail the clinical, radiological, biochemical, histopathological, and FAM20C findings of our patients. Following premortem tetracycline labeling, the proposita's non-decalcified skeletal histopathology after autopsy indicated no rickets but documented severe osteomalacia. Archival DNA revealed the sisters were compound heterozygotes for a unique missense mutation and a novel deletion in FAM20C. Individuals heterozygous for the missense mutation seemed to prematurely fuse their metopic suture and develop a metopic ridge sometimes including trigonocephaly. Our findings clarify FAM20C's role in hard tissue formation and mineralization, and show that Raine syndrome is congenital sclerosing osteomalacia with cerebral calcification. © 2016 American Society for Bone and Mineral Research. © 2016 American Society for Bone and Mineral Research.

Clinical and impression cytology findings of amniotic membrane and oral mucosal membrane transplantation for the management of socket contracture.

Science.gov (United States)

Kurtul, Bengi Ece; Erdener, Ugur; Mocan, Mehmet Cem; Irkec, Murat; Orhan, Mehmet

2014-01-01

To investigate and compare the cytopathological and clinical effects of amniotic membrane transplantation (AMT) and oral mucosal membrane transplantation (OMMT) in socket contraction. Twelve patients who could not be fitted with ocular prosthesis due to socket contracture were included in this study. Seven patients underwent AMT and 5 patients underwent OMMT. Thirteen patients who had healthy sockets were included as control group. Depth of inferior fornix, degree of inflammation, extent of the socket contracture and socket volume were measured in the preoperative period and at sixth and twelfth weeks postoperatively. Impression cytology of conjunctival fornices and tear transforming growth factor beta-1 (TGFβ1) levels were determined. In the AMT group, socket volume and lower fornix depth values were significantly higher (P=0.030 and P=0.004 respectively) and inflammation levels and impression cytology stages (P=0.037 and P=0.022 respectively) were significantly lower in postoperative period compared to preoperative period. In the OMMT group, no statistical differences were found in terms of clinical parameters, inflammation levels and impression cytology stages of preoperative versus postoperative values. Preoperative tear TGFβ1 levels were higher in AMT and OMMT groups compared to the control group (25.5 ng/mL, 26.3 ng/mL and 21.7 ng/mL respectively). Decreased tear TGFβ1 levels were observed in both the AMT and OMMT groups postoperatively (median decrease value=2.1 ng/mL and 2.7 ng/mL respectively). AMT is associated with postoperative improvement in inferior fornix depth, socket volume, inflammation and impression cytology levels and may be a more proper alternative method than OMMT in the management of socket contracture.

Percutaneous Needle Tenotomy for the Treatment of Muscle and Tendon Contractures in Adults With Brain Damage: Results and Complications.

Science.gov (United States)

Coroian, Flavia; Jourdan, Claire; Froger, Jérome; Anquetil, Claire; Choquet, Olivier; Coulet, Bertand; Laffont, Isabelle

2017-05-01

To study the results and complications of percutaneous needle tenotomy for superficial retracted tendons in patients with brain damage. Prospective observational study. University hospital. Patients with severe brain damage (N=38; mean age, 60.7y; age range, 24-93y; 21 women) requiring surgical management of contractures and eligible for percutaneous needle tenotomy were enrolled between February 2015 and February 2016. The percutaneous needle tenotomy gesture was performed by a physical medicine and rehabilitation physician trained by an orthopedic surgeon, under local or locoregional anesthesia. Treated tendons varied among patients. All patients were evaluated at 1, 3, and 6 months to assess surgical outcomes (joint range of motion [ROM], pain, and functional improvement) while screening for complications. Improvements in ROM (37/38) and contractures-related pain (12/12) were satisfactory. Functional results were satisfactory (Goal Attainment Scale score ≥0) for most patients (37/38): nursing (n=12), putting shoes on (n=8), getting in bed or sitting on a chair (n=6), verticalization (n=7), transfers and gait (n=8), and grip (n=2). Five patients had complications related to the surgical gesture: cast-related complications (n=2), hand hematoma (n=2), and cutaneous necrosis of the Achilles tendon in a patient with previous obliterative arteriopathy of the lower limbs (n=1). Percutaneous needle tenotomy yields good results in the management of selected superficial muscle and tendon contractures. The complications rate is very low, and this treatment can be an alternative to conventional surgery in frail patients with neurologic diseases. Copyright © 2016 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Congenital symmastia revisited

DEFF Research Database (Denmark)

Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik

2012-01-01

Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

Congenital Intrahepatic Portosystemic Shunts

Energy Technology Data Exchange (ETDEWEB)

Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

2008-12-15

Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

NARCIS (Netherlands)

Navarro, Claire Laure; Esteves-Vieira, Vera; Courrier, Sebastien; Boyer, Amandine; Thuy Duong Nguyen, [No Value; Le Thi Thanh Huong, [No Value; Meinke, Peter; Schroeder, Winnie; Cormier-Daire, Valerie; Sznajer, Yves; Amor, David J.; Lagerstedt, Kristina; Biervliet, Martine; van den Akker, Peter C.; Cau, Pierre; Roll, Patrice; Levy, Nicolas; Badens, Catherine; Wehnert, Manfred; De Sandre-Giovannoli, Annachiara

Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis, characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low bone density and pulmonary insufficiency generally leading to death in the perinatal period. RD is caused in most

Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts

NARCIS (Netherlands)

Putnam, E. A.; Park, E. S.; Aalfs, C. M.; Hennekam, R. C.; Milewicz, D. M.

1997-01-01

Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically related to the Marfan syndrome. CCA has recently been shown to result from mutations in the FBN2 gene, which encodes an elastin-associated microfibrillar protein called fibrillin-2. Two siblings are

Congenital heart disease

Science.gov (United States)

Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

Genetics Home Reference: congenital hypothyroidism

Science.gov (United States)

... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

[Neonatal tumours and congenital malformations].

Science.gov (United States)

Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

2008-06-01

The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

Congenital heat disease

International Nuclear Information System (INIS)

Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

1990-01-01

The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Science.gov (United States)

Thevenon, Julien; Monnier, Nicole; Callier, Patrick; Dieterich, Klaus; Francoise, Michel; Montgomery, Tara; Kjaergaard, Susanne; Neas, Katherine; Dixon, Joanne; Dahm, Thomas Lee; Huet, Frédéric; Ragon, Clémence; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Duplomb, Laurence; Aubriot-Lorton, Marie-Hélène; Mugneret, Francine; Vokes, Steve A; Tucker, Haley W; Lunardi, Joël; Faivre, Laurence; Jouk, Pierre Simon; Thauvin-Robinet, Christel

2014-12-01

Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20-25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of the 3p have already been diagnosed by standard chromosomal analysis, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 microdeletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis. Review of previously reported cases with a precise mapping of the deletions, documented a 250 kb smallest region of overlap (SRO) necessary for DLC. This region contained one gene, EIF4E3, the first three exons of the FOXP1 gene, and an intronic enhancer of FOXP1 named hs1149. Sanger sequencing and locus quantification of hs1149, EIF4E3, and FOXP1 in a cohort of 11 French patients affected by DLC appeared normal. In conclusion, we delineate a new microdeletion syndrome involving the 3p14.1p13 locus and associated with DLC and severe developmental delay. © 2014 Wiley Periodicals, Inc.

Elective cesarean section in a parturient with post burn neck contracture: An anesthetic challenge!

Directory of Open Access Journals (Sweden)

Kamlesh Kumari

2013-01-01

Full Text Available The incidence of failed intubation in the pregnant population is 1 in 250-300 patients, which is 8 times higher than non-pregnant patients. Regional anesthesia is the technique of choice in a parturient with recognized potentially difficult airway for cesarean section; however, it may be controversial in the presence of anticipated intraoperative hemodynamic instability. We describe anesthetic management of 23-year-old female, gravida 2, para 1 admitted in the labor ward with central placenta previa and severe post burn contracture of neck for elective cesarean delivery.

Increased Viral Dissemination in the Brain and Lethality in MCMV-Infected, Dicer-Deficient Neonates

Directory of Open Access Journals (Sweden)

Eleonore Ostermann

2015-05-01

Full Text Available Among Herpesviruses, Human Cytomegalovirus (HCMV or HHV-5 represents a major threat during congenital or neonatal infections, which may lead to encephalitis with serious neurological consequences. However, as opposed to other less prevalent pathogens, the mechanisms and genetic susceptibility factors for CMV encephalitis are poorly understood. This lack of information considerably reduces the prognostic and/or therapeutic possibilities. To easily monitor the effects of genetic defects on brain dissemination following CMV infection we used a recently developed in vivo mouse model based on the neonatal inoculation of a MCMV genetically engineered to express Luciferase. Here, we further validate this protocol for live imaging, and demonstrate increased lethality associated with viral infection and encephalitis in mutant mice lacking Dicer activity. Our data indicate that miRNAs are important players in the control of MCMV pathogenesis and suggest that miRNA-based endothelial functions and integrity are crucial for CMV encephalitis.

Congenital orbital teratoma.

Science.gov (United States)

Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

2013-12-01

We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

Congenital orbital teratoma

Directory of Open Access Journals (Sweden)

Shereen Aiyub

2013-01-01

Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

Chronic Exposure of Corals to Fine Sediments: Lethal and Sub-Lethal Impacts

Science.gov (United States)

Flores, Florita; Hoogenboom, Mia O.; Smith, Luke D.; Cooper, Timothy F.; Abrego, David; Negri, Andrew P.

2012-01-01

Understanding the sedimentation and turbidity thresholds for corals is critical in assessing the potential impacts of dredging projects in tropical marine systems. In this study, we exposed two species of coral sampled from offshore locations to six levels of total suspended solids (TSS) for 16 weeks in the laboratory, including a 4 week recovery period. Dose-response relationships were developed to quantify the lethal and sub-lethal thresholds of sedimentation and turbidity for the corals. The sediment treatments affected the horizontal foliaceous species (Montipora aequituberculata) more than the upright branching species (Acropora millepora). The lowest sediment treatments that caused full colony mortality were 30 mg l−1 TSS (25 mg cm−2 day−1) for M. aequituberculata and 100 mg l−1 TSS (83 mg cm−2 day−1) for A. millepora after 12 weeks. Coral mortality generally took longer than 4 weeks and was closely related to sediment accumulation on the surface of the corals. While measurements of damage to photosystem II in the symbionts and reductions in lipid content and growth indicated sub-lethal responses in surviving corals, the most reliable predictor of coral mortality in this experiment was long-term sediment accumulation on coral tissue. PMID:22662225

Chronic exposure of corals to fine sediments: lethal and sub-lethal impacts.

Directory of Open Access Journals (Sweden)

Florita Flores

Full Text Available Understanding the sedimentation and turbidity thresholds for corals is critical in assessing the potential impacts of dredging projects in tropical marine systems. In this study, we exposed two species of coral sampled from offshore locations to six levels of total suspended solids (TSS for 16 weeks in the laboratory, including a 4 week recovery period. Dose-response relationships were developed to quantify the lethal and sub-lethal thresholds of sedimentation and turbidity for the corals. The sediment treatments affected the horizontal foliaceous species (Montipora aequituberculata more than the upright branching species (Acropora millepora. The lowest sediment treatments that caused full colony mortality were 30 mg l(-1 TSS (25 mg cm(-2 day(-1 for M. aequituberculata and 100 mg l(-1 TSS (83 mg cm(-2 day(-1 for A. millepora after 12 weeks. Coral mortality generally took longer than 4 weeks and was closely related to sediment accumulation on the surface of the corals. While measurements of damage to photosystem II in the symbionts and reductions in lipid content and growth indicated sub-lethal responses in surviving corals, the most reliable predictor of coral mortality in this experiment was long-term sediment accumulation on coral tissue.

Radiotherapy in early-stage Dupuytren's contracture. Long-term results after 13 years

International Nuclear Information System (INIS)

Betz, Nicolas; Ott, Oliver J.; Sauer, Rolf; Fietkau, Rainer; Adamietz, Boris; Keilholz, Ludwig

2010-01-01

Background and Purpose: In early-stage Dupuytren's contracture, radiotherapy is applied to prevent disease progression. Long-term outcome and late toxicity of the treatment were evaluated in a retrospective analysis. Patients and Methods: Between 12/1982 and 02/2006, 135 patients (208 hands) were irradiated with orthovoltage (120 kV; 20 mA; 4-mm Al filter), in two courses with five daily fractions of 3.0 Gy to a total dose of 30 Gy; separated by a 6- to 8-week interval. The extent of disease was described according to a modified classification of Tubiana et al. Long-term outcome was analyzed at last follow-up between 02/2008 and 05/2008 with a median follow-up of 13 years (range, 2-25 years). Late treatment toxicity and objective reduction of symptoms as change in stage and numbers of nodules and cords were evaluated and used as evidence to assess treatment response. Results: According to the individual stages, 123 cases (59%) remained stable, 20 (10%) improved, and 65 (31%) progressed. In stage N 87% and in stage N/I 70% remained stable or even regressed. In more advanced stages, the rate of disease progression increased to 62% (stage I) or 86% (stage II). 66% of the patients showed a long-term relief of symptoms (i.e., burning sensations, itching and scratching, pressure and tension). Radiotherapy did not increase the complication rate after surgery in case of disease progression and only minor late toxicity (skin atrophy, dry desquamation) could be observed in 32% of the patients. There was no evidence for a second malignancy induced by radiotherapy. Conclusion: After a mean follow-up of 13 years radiotherapy is effective in prevention of disease progression and improves patients' symptoms in early-stage Dupuytren's contracture (stage N, N/I). In case of disease progression after radiotherapy, a ''salvage'' operation is still feasible. (orig.)

Burden and impact of congenital syndromes and comorbidities among adults with congenital heart disease.

Science.gov (United States)

Bracher, Isabelle; Padrutt, Maria; Bonassin, Francesca; Santos Lopes, Bruno; Gruner, Christiane; Stämpfli, Simon F; Oxenius, Angela; De Pasquale, Gabriella; Seeliger, Theresa; Lüscher, Thomas F; Attenhofer Jost, Christine; Greutmann, Matthias

2017-08-01

Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (pCongenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers. Copyright © 2017 Elsevier B.V. All rights reserved.

Relief of knee flexion contracture and gait improvement following adaptive training for an assist device in a transtibial amputee: A case study.

Science.gov (United States)

Kim, Sol-Bi; Ko, Chang-Yong; Son, Jinho; Kang, Sungjae; Ryu, Jeicheong; Mun, Museong

2017-01-01

Management of a knee contracture is important for regaining gait ability in transtibial amputees. However, there has been little study of prosthesis training for enhancing mobility and improving range of motion in cases of restricted knee extension. This study aimed to evaluate the effects of adaptive training for an assist device (ATAD) for a transtibial amputee with a knee flexion contracture (KFC). A male transtibial amputee with KFC performed 4 months of ATAD with a multidisciplinary team. During the ATAD, the passive range of motion (PROM) in the knee, amputee mobility predictor (AMP) assessment, center of pressure (COP) on a force plate-equipped treadmill, gait features determined by three-dimensional motion analysis, and Short-Form 36 Item Health Survey (SF-36) scores were evaluated. Following ATAD, PROM showed immediate improvement (135.6 ± 2.4° at baseline, 142.5 ± 1.7° at Step 1, 152.1 ± 1.8° at Step 2, 165.8 ± 1.9° at Step 3, and 166.0 ± 1.4° at Step 4); this was followed by an enhanced COP. Gradually, gait features also improved. Additionally, the AMP score (5 at baseline to 29 at Step 4) and K-level (K0 at baseline to K3 at Step 4) increased after ATAD. Along with these improvements, the SF-36 score also improved. ATAD could be beneficial for transtibial amputees by relieving knee contractures and improving gait.

Congenital cytomegalovirus infection

Directory of Open Access Journals (Sweden)

Katarina Rednak-Paradiž

2006-11-01

Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

Science.gov (United States)

Niederhoffer, Karen Y; Fahiminiya, Somayyeh; Eydoux, Patrice; Mawson, John; Nishimura, Gen; Jerome-Majewska, Loydie A; Patel, Millan S

2016-09-01

Marden-Walker syndrome is challenging to diagnose, as there is significant overlap with other multi-system congenital contracture syndromes including Beals congenital contractural arachnodactyly, D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome), Schwartz-Jampel syndrome, Freeman-Sheldon syndrome, Cerebro-oculo-facio-skeletal syndrome, and Van den Ende-Gupta syndrome. We discuss this differential diagnosis in the context of a boy from a consanguineous union with Van den Ende-Gupta syndrome, a diagnosis initially confused by the atypical presence of intellectual disability. SNP microarray and whole exome sequencing identified a homozygous frameshift mutation (p.L870V) in SCARF2 and predicted damaging mutations in several genes, most notably DGCR2 (p.P75L) and NCAM2 (p.S147G), both possible candidates for this child's intellectual disability. We review distinguishing features for each Marden-Walker-like syndrome and propose a clinical algorithm for diagnosis among this spectrum of disorders. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Prevalence of congenital amusia.

Science.gov (United States)

Peretz, Isabelle; Vuvan, Dominique T

2017-05-01

Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

How Does the Ca2+-paradox Injury Induce Contracture in the Heart?—A Combined Study of the Intracellular Ca2+ Dynamics and Cell Structures in Perfused Rat Hearts—

International Nuclear Information System (INIS)

Mani, Hiroki; Tanaka, Hideo; Adachi, Tetsuya; Ikegawa, Masaya; Dai, Ping; Fujita, Naohisa; Takamatsu, Tetsuro

2015-01-01

The calcium (Ca 2+ )-paradox injury of the heart, induced by restoration of extracellular Ca 2+ after its short-term depletion, is known to provoke cardiomyocyte contracture. However, undetermined is how the Ca 2+ -paradox provokes such a distinctive presentation of myocytes in the heart. To address this, we imaged sequential intracellular Ca 2+ dynamics and concomitant structures of the subepicardial ventricular myocytes in fluo3-loaded, Langendorff-perfused rat hearts produced by the Ca 2+ paradox. Under rapid-scanning confocal microscopy, repletion of Ca 2+ following its depletion produced high-frequency Ca 2+ waves in individual myocytes with asynchronous localized contractions, resulting in contracture within 10 min. Such alterations of myocytes were attenuated by 5-mM NiCl 2 , but not by verapamil, SEA0400, or combination of ryanodine and thapsigargin, indicating a contribution of non-specific transmembrane Ca 2+ influx in the injury. However, saponin-induced membrane permeabilization of Ca 2+ showed no apparent contracture despite the emergence of high-frequency Ca 2+ waves, indicating an essential role of myocyte-myocyte and myocyte-extracellular matrix (ECM) mechanical connections in the Ca 2+ paradox. In immunohistochemistry Ca 2+ depletion produced separation of the intercalated disc that expresses cadherin and dissipation of β-dystroglycan located along the sarcolemma. Taken together, along with the trans-sarcolemmal Ca 2+ influx, disruption of cell-cell and cell-ECM connections is essential for contracture in the Ca 2+ -paradox injury

The role of variable muscle adaptation to limb lengthening in the development of joint contractures: an experimental study in the goat.

Science.gov (United States)

Makarov, Marina; Birch, John; Samchukov, Mikhail

2009-03-01

Muscle stiffness and joint contractures are currently regarded as the most common complications of limb lengthening. To better understand the mechanisms of joint contractures, architectural changes of all involved muscles were analyzed in 9 goats after 20% tibial lengthening with standard distraction protocol.All 13 muscles of the goat's tibia were found to be organized into an anterior compartment with 2 longitudinal and 4 pennate muscles and a posterior compartment with 1 longitudinal and 6 pennate muscles. Longitudinal muscles showed better compliance to distraction than pinnate muscles. Although muscle-to-bone lengthening ratio ranged widely (0-1.2), most of the muscles and especially those located in the posterior compartment showed much less lengthening than the bone. Muscular portions of the muscles lengthened more substantially (average, 17%) than their associated tendons (average, 7%). Muscle fiber length changes varied greatly between muscles (range, 0%-88%). Normalization of muscle fiber length revealed considerable elongation of anterior muscles fibers (25%) that was associated with an addition of new sarcomeres in series. Fiber length increase of all posterior muscles but one occurred by stretching of existing sarcomeres, with little addition or even dissolution of sarcomeres in series. This correlated with muscle mass changes showing significant muscle atrophy in the posterior compartment and better mass preservation in the anterior compartment.The study revealed striking difference in response to limb lengthening between individual muscles and muscles from antagonistic compartments in particular. Poor sarcomerogenesis in the posterior muscles leading to their insufficient length increase seems to play major role in the development of joint contractures.

Congenital Leukemia in Down's syndrome

International Nuclear Information System (INIS)

Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

2006-01-01

Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

International Nuclear Information System (INIS)

Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

2014-01-01

There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

Congenital heart defects and extracardiac malformations.

Science.gov (United States)

Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

2013-06-01

To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

Congenital Heart Defects and CCHD

Science.gov (United States)

... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

Congenital amusias.

Science.gov (United States)

Tillmann, B; Albouy, P; Caclin, A

2015-01-01

In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." © 2015 Elsevier B.V. All rights reserved.

Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice.

Science.gov (United States)

Catela, Catarina; Bilbao-Cortes, Daniel; Slonimsky, Esfir; Kratsios, Paschalis; Rosenthal, Nadia; Te Welscher, Pascal

2009-01-01

Wolf-Hirschhorn syndrome (WHS) is caused by deletions in the short arm of chromosome 4 (4p) and occurs in about one per 20,000 births. Patients with WHS display a set of highly variable characteristics including craniofacial dysgenesis, mental retardation, speech problems, congenital heart defects, short stature and a variety of skeletal anomalies. Analysis of patients with 4p deletions has identified two WHS critical regions (WHSCRs); however, deletions targeting mouse WHSCRs do not recapitulate the classical WHS defects, and the genes contributing to WHS have not been conclusively established. Recently, the human FGFRL1 gene, encoding a putative fibroblast growth factor (FGF) decoy receptor, has been implicated in the craniofacial phenotype of a WHS patient. Here, we report that targeted deletion of the mouse Fgfrl1 gene recapitulates a broad array of WHS phenotypes, including abnormal craniofacial development, axial and appendicular skeletal anomalies, and congenital heart defects. Fgfrl1 null mutants also display a transient foetal anaemia and a fully penetrant diaphragm defect, causing prenatal and perinatal lethality. Together, these data support a wider role for Fgfrl1 in development, implicate FGFRL1 insufficiency in WHS, and provide a novel animal model to dissect the complex aetiology of this human disease.

JOURNAL V12 NO 1 2OO7 FINAL EDIT TO BIOLINE

African Journals Online (AJOL)

user

Background: Gluteal fibrosis is a muscle disorder marked by intramuscular fibrous bands within the substance of the gluteal muscle. These bands lead to secondary contractures that affect the function of the hip joint(s). Different hypotheses have been put forward concerning the etiology of gluteal fibrosis. A congenital ...

Muscle releases to improve passive motion and relieve pain in patients with spastic hemiplegia and elbow flexion contractures.

Science.gov (United States)

Namdari, Surena; Horneff, J Gabe; Baldwin, Keith; Keenan, Mary Ann

2012-10-01

Patients with spastic hemiplegia after upper motor neuron (UMN) injury can develop elbow contractures. This study evaluated outcomes of elbow releases in treating spastic elbow flexion contractures in hemiplegic patients. Adults with spastic hemiplegia due to UMN injury who underwent elbow releases (brachialis, brachioradialis, and biceps muscles) were included. Nonoperative treatment was unsuccessful in all patients. Patients complained of difficulty with passive functions. Passive range of motion (ROM), pain relief, Modified Ashworth spasticity score, and complications were evaluated preoperatively and postoperatively. There were 8 men and 21 women with an average age of 52.4 years (range, 24.1-81.4 years). Seventeen patients had pain preoperatively. Postoperative follow-up was a mean of 1.7 years (range, 1-4.5 years). Preoperatively, patients lacked a mean of 78° of passive elbow extension compared with 17° postoperatively (P .05). Releases of the brachialis, brachioradialis, and biceps muscles can be an effective means of pain relief, improved passive ROM, and decreased spasticity in patients with elbow flexion deformity after UMN injury. Copyright © 2012 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Mosby, Inc. All rights reserved.

Congenital malaria in China.

Directory of Open Access Journals (Sweden)

Zhi-Yong Tao

2014-03-01

Full Text Available BACKGROUND: Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. METHODS/PRINCIPAL FINDINGS: Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%, reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients

[Identification of risk factors for congenital malformations].

Science.gov (United States)

Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

2014-11-01

The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

Congenital platelet function defects

Science.gov (United States)

... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

"Popeye muscle" morphology in OBPI elbow flexion contracture.

Science.gov (United States)

Coroneos, Christopher J; Maizlin, Zeev V; DeMatteo, Carol; Gjertsen, Deborah; Bain, James R

2015-01-01

The pathophysiology of elbow flexion contracture (EFC) in obstetrical brachial plexus injury (OBPI) is not established. In basic science models, neonatal denervation leads to impaired muscle growth. In clinical studies, diminished growth is correlated with extent of denervation, and improved with surgical repair. In EFC, the biceps are clinically short and round vs the contralateral size, termed the "Popeye muscle". The objective of this study was to determine if the biceps morphology (muscle belly and tendon length) in arms with EFC secondary to OBPI is different vs the contralateral. This is a retrospective matched-cohort study. Patients with unilateral EFC (>20°) secondary to OBPI were identified (median = 6.6 years, range = 4.7-16.8). A blinded radiologist used computed tomography to measure length of the biceps short head muscle belly, and tendon bilaterally using standardised anatomical landmarks. Twelve patients were analyzed. The biceps muscle belly in the injured arm was shorter in all patients vs contralateral, mean difference = 3.6 cm (80%), p muscle belly and overall length, but longer tendon vs normal. This is termed the "Popeye muscle" for its irregular morphology. Findings are consistent with impaired limb growth in denervation.

Spasticity and contractures at the wrist after stroke: time course of development and their association with functional recovery of the upper limb

NARCIS (Netherlands)

Malhotra, S.; Malhotra, S.; Pandyan, A.D.; Rosewilliam, S.; Roffe, C.; Hermens, Hermanus J.

Objective: To investigate the time course of development of spasticity and contractures at the wrist after stroke and to explore if these are associated with upper limb functional recovery. - Design: Longitudinal observational study using secondary data from the control group of a randomized

General Concepts in Adult Congenital Heart Disease.

Science.gov (United States)

Mutluer, Ferit Onur; Çeliker, Alpay

2018-01-20

Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.

General Concepts in Adult Congenital Heart Disease

Directory of Open Access Journals (Sweden)

Ferit Onur Mutluer

2018-02-01

Full Text Available Congenital heart disease in adults (adult congenital heart disease is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face

Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

Directory of Open Access Journals (Sweden)

Abdel-Aziz Mosaad

2012-06-01

Full Text Available Abstract Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology.

Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

Directory of Open Access Journals (Sweden)

Maria Arafah

2011-01-01

Full Text Available Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

Mining of lethal recessive genetic variation in Danish cattle

DEFF Research Database (Denmark)

Das, Ashutosh

2015-01-01

in fertility. The primary objective of this PhD projekt was to identify recessive lethal gentic variants in the main Danish dairy cattle breed. Holstein-Friesian utilzing next generation sequencing (NGS) data. This study shows a potential for the use of the NGS-based reverse genetic approach in identifying...... lethal or semi-lethal recessive gentic variation...

Congenital Heart Information Network

Science.gov (United States)

... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice [version 2; referees: 1 approved, 2 approved with reservations

Directory of Open Access Journals (Sweden)

Robert Wilson

2017-02-01

Full Text Available Background: Identifying genes that are essential for mouse embryonic development and survival through term is a powerful and unbiased way to discover possible genetic determinants of human developmental disorders. Characterising the changes in mouse embryos that result from ablation of lethal genes is a necessary first step towards uncovering their role in normal embryonic development and establishing any correlates amongst human congenital abnormalities. Methods: Here we present results gathered to date in the Deciphering the Mechanisms of Developmental Disorders (DMDD programme, cataloguing the morphological defects identified from comprehensive imaging of 220 homozygous mutant and 114 wild type embryos from 42 lethal and subviable lines, analysed at E14.5. Results: Virtually all mutant embryos show multiple abnormal phenotypes and amongst the 42 lines these affect most organ systems. Within each mutant line, the phenotypes of individual embryos form distinct but overlapping sets. Subcutaneous edema, malformations of the heart or great vessels, abnormalities in forebrain morphology and the musculature of the eyes are all prevalent phenotypes, as is loss or abnormal size of the hypoglossal nerve. Conclusions: Overall, the most striking finding is that no matter how profound the malformation, each phenotype shows highly variable penetrance within a mutant line. These findings have challenging implications for efforts to identify human disease correlates.

Early detection of congenital syphilis

Directory of Open Access Journals (Sweden)

Nagalakshmi Chowdhary

2014-01-01

Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

Genetics Home Reference: critical congenital heart disease

Science.gov (United States)

... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

NARCIS (Netherlands)

Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.

2016-01-01

Objective To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. Study design We included 129 patients with CARM born between 2004 and 2013, and

Elbow Flexion Contractures in Childhood in Obstetric Brachial Plexus Lesions: A Longitudinal Study of 20 Neurosurgically Reconstructed Infants with 8-Year Follow-up

NARCIS (Netherlands)

van der Sluijs, M.; van Ouwerkerk, W.J.R.; van der Sluijs, J.A.; van Royen, B.J.

2015-01-01

Objective Little knowledge exists on the development of elbow flexion contractures in children with obstetrical brachial plexus lesion (OBPL). This study aims to evaluate the prognostic significance of several neuromuscular parameters in infants with OBPL regarding the later development of elbow

Fetal chromosome abnormalities and congenital malformations: an ...

African Journals Online (AJOL)

The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

NARCIS (Netherlands)

Bellini, Carlo; Mazzella, Massimo; Arioni, Cesare; Campisi, Corradino; Taddei, Gioconda; Tomà, Paolo; Boccardo, Francesco; Hennekam, Raoul C.; Serra, Giovanni

2003-01-01

We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary

Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients

Science.gov (United States)

2013-01-01

Background Myotonic Dystrophy Type 1 (DM1) is the most common form of hereditary myopathy presenting in adults. This autosomal-dominant systemic disorder is caused by a CTG repeat, demonstrating various symptoms. A mild, classic and congenital form can be distinguished. Often the quality of life is reduced by orthopaedic problems, such as muscle weakness, contractures, foot or spinal deformities, which limit patients’ mobility. The aim of our study was to gather information about the orthopaedic impairments in patients with DM1 in order to improve the medical care of patients, affected by this rare disease. Methods A retrospective clinical study was carried out including 21 patients (11 male and 10 female), all diagnosed with DM1 by genetic testing. All patients were seen during our special consultations for neuromuscular diseases, during which patients were interviewed and examined. We also reviewed surgery reports of our hospitalized patients. Results We observed several orthopaedic impairments: spinal deformities (scoliosis, hyperkyphosis, rigid spine), contractures (of the upper extremities and the lower extremities), foot deformities (equinus deformity, club foot, pes cavus, pes planovalgus, pes cavovarus, claw toes) and fractures. Five patients were affected by pulmonary diseases (obstructive airway diseases, restrictive lung dysfunctions). Twelve patients were affected by cardiac disorders (congenital heart defects, valvular heart defects, conduction disturbances, pulmonary hypertension, cardiomyopathy). Our patients received conservative therapy (physiotherapy, logopaedic therapy, ergotherapy) and we prescribed orthopaedic technical devices (orthopaedic custom-made shoes, insoles, lower and upper leg orthoses, wheelchair, Rehab Buggy). We performed surgery for spinal and foot deformities: the scoliosis of one patient was stabilized and seven patients underwent surgery for correction of foot deformities. Conclusions An orthopaedic involvement in DM1

Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Science.gov (United States)

2018-02-19

Aortopathies; Thoracic Aortic Aneurysm; Aortic Valve Disease; Thoracic Aortic Disease; Thoracic Aortic Dissection; Thoracic Aortic Rupture; Ascending Aortic Disease; Descending Aortic Disease; Ascending Aortic Aneurysm; Descending Aortic Aneurysm; Marfan Syndrome; Loeys-Dietz Syndrome; Ehlers-Danlos Syndrome; Shprintzen-Goldberg Syndrome; Turner Syndrome; PHACE Syndrome; Autosomal Recessive Cutis Laxa; Congenital Contractural Arachnodactyly; Arterial Tortuosity Syndrome

Congenital chylous ascites

International Nuclear Information System (INIS)

Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

2011-01-01

Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity. (authors)

Congenital nystagmus and negative electroretinography

Directory of Open Access Journals (Sweden)

Roussi M

2011-04-01

Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

Lethality of Rendang packaged in multilayer retortable pouch with sterilization process

Science.gov (United States)

Praharasti, A. S.; Kusumaningrum, A.; Frediansyah, A.; Nurhikmat, A.; Khasanah, Y.; Suprapedi

2017-01-01

Retort Pouch had become a choice to preserve foods nowadays, besides the used of the can. Both had their own advantages, and Retort Pouch became more popular for the reason of cheaper and easier to recycle. General Method usually used to estimate the lethality of commercial heat sterilization process. Lethality value wa s used for evaluating the efficacy of the thermal process. This study aimed to find whether different layers of pouch materials affect the lethality value and to find differences lethality in two types of multilayer retort pouch, PET/Aluminum Foil/Nylon/RCPP and PET/Nylon/Modified Aluminum/CPP. The result showed that the different layer arrangement was resulted different Sterilization Value (SV). PET/Nylon/Modified Aluminum/CPP had better heat penetration, implied by the higher value of lethality. PET/Nylon/Modified Aluminum/CPP had the lethality value of 6,24 minutes, whereas the lethality value of PET/Aluminum Foil/Nylon/RCPP was 3,54 minutes.

Botulinum Toxin Injection for Internal Rotation Contractures in Brachial Plexus Birth Palsy. A Minimum 5-Year Prospective Observational Study.

Science.gov (United States)

Duijnisveld, Bouke J; van Wijlen-Hempel, Marie S; Hogendoorn, Simone; de Boer, Kees S; Malessy, Martijn J A; Keurentjes, J Christiaan; Nagels, Jochem; Nelissen, Rob G H H

Brachial plexus birth palsy is frequently associated with internal rotation contractures of the shoulder as a result of muscle imbalance. The purpose of this study is to assess the effect of botulinum toxin A (BTX-A) injection in the subscapular (SC) muscle on external rotation and the need for tendon transfer for external rotation of the shoulder. A prospective comparative study was performed including 15 consecutive patients treated with BTX-A and a historic control group of 67 patients with mean age 30 months (SD 10). The BTX-A injection (2 IU/kg body weight) was performed immediately following MRI under general anesthesia in the SC muscle. Passive external rotation, the need for tendon transfer surgery, glenohumeral deformity, and muscle degeneration were evaluated. The hazard ratio for no relapse of internal rotation contracture after BTX-A injection compared with no BTX-A injection was calculated. In the BTX-A group, the passive external rotation in adduction increased from -1 degree (95% CI, -10 to 8) to 32 degrees (95% CI, 17-46) at 3 months and 6 patients were indicated for surgery compared with a decline from -2 degrees (95% CI, -7 to 3) to -11 degrees (95% CI, -17 to -6) in the control group with 66 indications for surgery. At 5 years of follow-up, 10 patients in the BTX-A group were indicated for surgery with a hazard ratio of 4.0 (95% CI, 1.9 to 8.4). BTX-A injection in the SC muscle of brachial plexus birth palsy patients can reduce internal rotation contractures and subsequently the need for tendon transfer surgery. At 5 years of follow-up a relapse was seen in 67% of the patients treated with BTX-A. Because at MRI less SC degeneration was found in the good responders on BTX-A treatment, this group seems to be the best target group. Further research is needed on patient selection for BTX-A injection including glenohumeral deformity, SC degeneration, as well as doses of BTX-A to be used. Level II-prospective comparative study.

The role of muscle imbalance in the pathogenesis of shoulder contracture after neonatal brachial plexus palsy: a study in a rat model.

Science.gov (United States)

Soldado, Francisco; Fontecha, Cesar G; Marotta, Mario; Benito, David; Casaccia, Marcelo; Mascarenhas, Vasco V; Zlotolow, Dan; Kozin, Scott H

2014-07-01

An internal rotation contracture of the shoulder is common after neonatal brachial plexus injuries due to subscapularis shortening and atrophy. It has been explained by 2 theories: muscle denervation and muscle imbalance between the internal and external rotators of the shoulder. The goal of this study was to test the hypothesis that muscle imbalance alone could cause subscapularis changes and shoulder contracture. We performed selective neurectomy of the suprascapular nerve in 15 newborn rats to denervate only the supraspinatus and the infraspinatus muscles, leaving the subscapularis muscle intact. After 4 weeks, passive shoulder external rotation was measured and a 7.2-T magnetic resonance imaging scan of the shoulders was used to determine changes in the infraspinatus and subscapularis muscles. The subscapularis muscle was weighed to determine the degree of mass loss. An additional group of 10 newborn rats was evaluated to determine the sectional muscle fiber size and muscle area of fibrosis by use of images from type I collagen immunostaining. There was a significant decrease in passive shoulder external rotation, with a mean loss of 66°; in the thickness of the denervated infraspinatus, with a mean loss of 40%; and in the thickness and weight of the non-denervated subscapularis, with mean losses of 28% and 25%, respectively. No differences were found in subscapularis muscle fiber size and area of fibrosis between shoulders after suprascapular nerve injury. Our study supports the theory that shoulder muscle imbalance is a cause of shoulder contracture in patients with neonatal brachial plexus palsy. Copyright © 2014 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Mosby, Inc. All rights reserved.

Congenital and perinatal cytomegalovirus infection

Directory of Open Access Journals (Sweden)

Chun Soo Kim

2010-01-01

Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

[Bladder tumor lethality. Results in the autonomous community of Rioja between 1975-1991].

Science.gov (United States)

Fernández Fernández, A; Gil Fabra, J; Fernández Ruíz, M; Angulo Castellanos, M G; Blanco Martín, E; Otero Mauricio, G

1998-01-01

Between 1975-1991, a total of 557 cases of bladder carcinoma were identified in the Autonomous Community of La Rioja (CAR) which were followed up to December 1994. The overall lethality was 21.9%. 492 cases with 22.35% lethality were identified in males. In females, however, there was 65 cases with 18.46% lethality. The comparison of males and females lethality resulted in p = 0.525. Lethality between cases diagnosed within each 5-year period analyzed is: 1975-1981: 177 cases, lethality 23.72%. 1982-1986: 168 cases, lethality 30.95%. 1987-1991: 212 cases, lethality 13.20%. Between the first and the second 5-year periods, p = 0.132; between the first and third 5-year periods p = 0.007 and between the second and third 5-year periods p CAR for a 22.35% lethality. Lethality is higher in males that in females but the difference is not statistically significant. In the last 5-year period assessed, 1987-1991, a reduction of lethality from bladder neoplasms has been documented.

Effects of the administration of 2,3-butanedione monoxime during conventional cardiopulmonary resuscitation on ischaemic contracture and resuscitability in a pig model of out-of-hospital cardiac arrest.

Science.gov (United States)

Lee, Byung Kook; Jeung, Kyung Woon; Choi, Sung Soo; Park, Sang Wook; Yun, Seong Woo; Lee, Sung Min; Kim, Nan Yeol; Heo, Tag; Min, Yong Il

2015-02-01

Ischaemic contracture compromises the haemodynamic effectiveness of cardiopulmonary resuscitation and resuscitability. 2,3-Butanedione monoxime (BDM) reduced ischaemic contracture by inhibiting actin-myosin crossbridge formation in an isolated heart model. We investigated the effects of BDM on ischaemic contracture and resuscitation outcomes in a pig model of out-of-hospital cardiac arrest (OHCA). After 15min of untreated ventricular fibrillation, followed by 8min of basic life support, 16 pigs were randomised to receive either 2mlkg(-1) of BDM solution (25gl(-1)) or 2mlkg(-1) of saline during advanced cardiac life support (ACLS). During the ACLS, the control group showed an increase in left ventricular (LV) wall thickness from 10.0mm (10.0-10.8) to 13.0mm (13.0-13.0) and a decrease in LV chamber area from 8.13cm(2) (7.59-9.29) to 7.47cm(2) (5.84-8.43). In contrast, the BDM group showed a decrease in the LV wall thickness from 10mm (9.0-10.8) to 8.5mm (7.0-9.8) and an increase in the LV chamber area from 9.86cm(2) (7.22-12.39) to 12.15 cm(2) (8.02-14.40). Mixed model analyses of the LV wall thickness and LV chamber area revealed significant group effects and group-time interactions. Spontaneous circulation was restored in four (50%) animals in the control group and in eight (100%) animals in the BDM group (p=0.077). All the resuscitated animals survived during an intensive care period of 4h. BDM administered during cardiopulmonary resuscitation reversed ischaemic contracture in a pig model of OHCA. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Multifocal Congenital Hemangiopericytoma.

Science.gov (United States)

Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

2017-01-01

Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported. © 2016 Wiley Periodicals, Inc.

Humanitarian Algorithms : A Codified Key Safety Switch Protocol for Lethal Autonomy

OpenAIRE

Nyagudi, Nyagudi Musandu

2014-01-01

With the deployment of lethal autonomous weapons, there is the requirement that any such platform complies with the precepts of International Humanitarian Law. Humanitarian Algorithms[9: p. 9] ensure that lethal autonomous weapon systems perform military/security operations, within the confines of International Humanitarian Law. Unlike other existing techniques of regulating lethal autonomy this scheme advocates for an approach that enables Machine Learning. Lethal autonomous weapons must be ...

The Antley-Bixler syndrome: two new cases.

Directory of Open Access Journals (Sweden)

Hosalkar H

2001-10-01

Full Text Available The Antley-Bixler syndrome is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly. We report two new cases of this syndrome and address the diagnostic features, associated malformations, inheritance patterns, prenatal findings, and briefly review the literature.

Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother

Directory of Open Access Journals (Sweden)

Amar M. Taksande

2009-11-01

Full Text Available Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities or maternal disorders Here we report a rare case of arthrogryposis in infant of diabetic mother with multiple congenital anomalies.

Educational series in congenital heart disease:Congenital left-sided heart obstruction

OpenAIRE

Carr, Michelle; Curtis, Stephanie; Marek, Jan

2018-01-01

Congenital obstruction of the left ventricular outflow tract remains a significant problem and multilevel obstruction can often coexist. Obstruction can take several morphological forms and may involve the subvalvar, valvar or supravalvar portion of the aortic valve complex. Congenital valvar stenosis presenting in the neonatal period represents a spectrum of disorders ranging from the hypoplastic left heart syndrome to almost normal hearts. Treatment options vary dependent on the severity of...

Non-Lethal Weapons Program

Science.gov (United States)

Sheets Frequently Asked Questions Non-Lethal Weapons FAQs Active Denial System FAQs Human Electro -Muscular Incapacitation FAQs Related Links Business Opportunities Contact JNLWD Congressional Engagement , Wednesday, Sept 20, 2017. The Active Denial System, blunt-impact munitions, dazzling lasers, LRAD 100X

Ultrasound studies of the effects of certain poisonous plants on uterine function and fetal development in livestock.

Science.gov (United States)

Bunch, T D; Panter, K E; James, L F

1992-05-01

Ingestion of locoweed (Astragalus spp. and Oxytropis spp.) by pregnant livestock may result in fetal malformations, delayed placentation, reduced placental and uterine vascular development, hydrops amnii, hydrops allantois, abnormal cotyledonary development, interruption of fetal fluid balance, and abortion. Ultrasonography of pregnant sheep fed locoweed demonstrated that abortion was first preceded by changes in fetal heart rate and strength of contraction and structural changes of the cotyledons, followed by increased accumulation of fetal fluid within the placental membranes and death of the fetus. During pregnancy the toxic agent in locoweed (swainsonine) apparently passes through the placental barrier to the fetus and during lactation through the milk to the neonate. Poison-hemlock (Conium maculatum), wild tree tobacco (Nicotiana glauca), and lunara lupine (Lupinus formosus) all contain piperidine alkaloids and induce fetal malformations, including multiple congenital contractures and cleft palate in livestock. Ultrasonography studies of pregnant sheep and goats gavaged with these plants during 30 to 60 d of gestation suggests that the primary cause of multiple congenital contractures and cleft palate is the degree and the duration of the alkaloid-induced fetal immobilization.

ULTRASOUND GUIDED ILIOINGUINAL AND ILIOHYPOGASTRIC NERVE BLOCK FOR INGUINAL HERNIA REPAIR IN ARTHROGRYPOSIS MULTIPLEX CONGENITA

Directory of Open Access Journals (Sweden)

Paul O.

2015-06-01

Full Text Available Arthrogryposis multiplex congenita (AMC refers to a syndrome of unknown etiology with multiple congenital contractures in one or more joints with a concomitant inability of passive extension and flexion . The overall prevalence of arthrogryposis is one in 3000 live births . The extensive contractures , tense skin , minimal muscle mass and subcutaneous tissue pose challenges in anaesthetic management. We report a seven year old boy (15 kg , known case of AMC with congenital talipes equino varus (CTEV and bilateral hip dislocation posted for right sided herniot omy and orchidopexy. We planned to combine general anaesthesia without muscle relaxants and regional nerve block. The child was induced with propofol and Classic LMA Size 2 was inserted. An ilioinguinal and i liohypogastric nerve block was given under ultrasound guidance using 0.2% ropivacaine. Pateint remained hemodynamically stable during surgery with minimal anaesthetic requirement and no anlgesics. Analgesia lasted for 8 hours postoperatively. Combining narcosis with regional anaesthesia leads to a reduced demand for anaesthetics , stable circulatory conditions , maintenance of spontaneous breathing , prevention of stress and sufficient postoperative analgesia

Genetics Home Reference: congenital mirror movement disorder

Science.gov (United States)

... Health Conditions Congenital mirror movement disorder Congenital mirror movement disorder Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Congenital mirror movement disorder is a condition in which intentional movements ...

Radiology of congenital heart disease

International Nuclear Information System (INIS)

Amplatz, K.

1986-01-01

This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy

Non-Lethal Weapons: Opportunities for R&D

Science.gov (United States)

2004-12-01

during the Vietnam War. US; emulsifying agents are used in food processing, drilling fluids, cosmetics , pharmaceuticals, heavy- duty cleaners, textile...conducted in a professional manner, with no threat to public safety or the environment. 11 References [1] Fenton , G., (2001). NLW Technology Taxonomy...W.A., Mason, R.L., Collins, K.R., (2000). Non-Lethal Applicants of Slippery Substances. NDIA Non-Lethal Defense IV. [24] Fenton , G., (2000). Overview

Congenital obstructive posterior urethral membranes and recurrent urinary tract infection: a rare case of congenital hypertrophy of the verumontanum

Directory of Open Access Journals (Sweden)

Diana Bancin

2015-03-01

Full Text Available Congenital obstructive posterior urethral membranes (COPUM is a complex disease closely related to several pathological changes in kidney development and function, as a result of urinary reflux since in utero. This congenital anomaly of urinary tract potentially causes hydroureteronephrosis that is often associated with recurrent urinary tract infections and, ultimately, one of the most common causes of end-stage renal disease in children.1,2 Congenital hypertrophy of the verumontanum as part of COPUM is very rare. Only a few reports have been written on congenital hypertrophy of the vermontanum causing congenital obstructive uropathy.3-6

Congenital cataract screening

Directory of Open Access Journals (Sweden)

Zhale Rajavi

2016-01-01

Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

Lethal synergy involving bicyclomycin: an approach for reviving old antibiotics.

Science.gov (United States)

Malik, Muhammad; Li, Liping; Zhao, Xilin; Kerns, Robert J; Berger, James M; Drlica, Karl

2014-12-01

One way to address the growing problem of antimicrobial resistance is to revive old compounds that may have intrinsic lethal activity that is obscured by protective factors. Bicyclomycin is an old inhibitor of the Rho transcription terminator that by itself shows little rapid lethal activity. However, bicyclomycin participates in bacteriostatic synergy, which raises the possibility that conditions for lethal synergy may exist, perhaps through a suppression of protective factors. Bicyclomycin was combined with bacteriostatic inhibitors of gene expression, and bactericidal activity was measured with several cultured Gram-negative pathogens. When used alone, bicyclomycin failed to rapidly kill growing cultures of Escherichia coli; however, the additional presence of bacteriostatic concentrations of tetracycline, chloramphenicol or rifampicin led to rapid killing. Four other pathogen species, Acinetobacter baumannii, Klebsiella pneumoniae, Salmonella enterica serotype Typhimurium and Shigella dysenteriae, also exhibited enhanced killing when bicyclomycin was combined with tetracycline or rifampicin. This lethal synergy was achieved at low concentrations (slightly above the MIC) for all agents tested in combinations. Follow-up work with E. coli indicated that lethal synergy arose from a blockage of transcription elongation. Moreover, lethal synergy was reduced when bicyclomycin was added 60 min before tetracycline, suggesting that bicyclomycin induces a protective factor. The action of bicyclomycin illustrates the potential present in a largely abandoned antibacterial agent; it exhibits lethal synergy when coadministered with known, bacteriostatic inhibitors of gene expression. The identification of protective factors, which are currently uncharacterized, may reveal new ways to promote the lethal action of some old antibiotics. © The Author 2014. Published by Oxford University Press on behalf of the British Society for Antimicrobial Chemotherapy. All rights reserved

Nitrofurantoin and congenital abnormalities

DEFF Research Database (Denmark)

Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

2001-01-01

or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use......Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

Use of the caffeine-halothane contracture test for the diagnosis of malignant hyperthermia in Brazil

Directory of Open Access Journals (Sweden)

R.T. Sudo

2010-06-01

Full Text Available Malignant hyperthermia (MH is a pharmacogenetic disease triggered by volatile anesthetics and succinylcholine. Deaths due to MH have been reported in Brazil. The first Malignant Hyperthermia Diagnostic and Research Center in Latin America was inaugurated in 1993 at the Federal University of Rio de Janeiro, Brazil. The center followed the diagnostic protocols of the North America MH Group, in which the contractures of biopsies from the vastus lateralis muscle are analyzed after exposure to caffeine and halothane (CHCT. CHCT was performed in individuals who survived, their relatives and those with signs/symptoms somewhat related to MH susceptibility (MHS. Here, we report data from 194 patients collected over 16 years. The Southeast (N = 110 and South (N = 71 represented the majority of patients. Median age was 25 (4-70 years, with similar numbers of males (104 and females (90. MHS was found in 90 patients and 104 patients were normal. Abnormal responses to both caffeine and halothane were observed in 59 patients and to caffeine or halothane in 20 and 11 patients, respectively. The contracture of biopsies from MHS exposed to caffeine and halothane was 1.027 ± 0.075 g (N = 285 and 4.021 ± 0.255 g (N = 226, respectively. MHS was found in patients with either low or high blood creatine kinase and also, with a low score on the clinical grading scale. Thus, these parameters cannot be used with certainty to predict MHS. We conclude that the CHCT protocol described by the North America MH Group contributed to identification of MHS in suspected individuals at an MH center in Brazil with 100% sensitivity and 65.7% specificity.

[Congenital cardiopathy and cerebral abscess].

Science.gov (United States)

Paixão, A; de Andrade, F F; Sampayo, F

1989-01-01

During 1986 the authors came across two cases of brain abscess among children with congenital heart disease followed at the Pediatric Cardiology Service and decided to evaluate their global experience on the subject. In a retrospective study of 860 infants and children with cyanotic congenital heart disease and final diagnosis, there were four cases complicated with brain abscess. The following items were evaluated: prevalence of the complication, type of congenital heart disease, date and age at the diagnosis of brain abscess, diagnostic methods, neurosurgical treatment and results. The main findings were: all patients were above two years of age and had noncorrected cyanotic congenital heart disease belonging to the classic high risk group; the first two cases had been treated in other institutions and only scanty information was available; two recent cases had early diagnosis on CAT scan followed by neurosurgical treatment. All children survived. brain abscess is a rare but severe complication occurring in patients with noncorrected cyanotic congenital heart disease above two years of age; whenever prevention turns impossible, early diagnosis and treatment provide good short term and long term results. A multidisciplinar approach with full cooperation is advocated.

Prevention of Cutaneous Tissue Contracture During Removal of Craniofacial Implant Superstructures for CT and MRI Studies

Directory of Open Access Journals (Sweden)

Maureen Sullivan

2010-04-01

Full Text Available Objectives: Head and neck cancer patients who have lost facial parts following surgical intervention frequently require craniofacial implant retained facial prostheses for restoration. Many craniofacial implant patients require computed tomography and magnetic resonance imaging scans as part of their long-term follow-up care. Consequently removal of implant superstructures and peri-abutment tissue management is required for those studies. The purpose of the present paper was to describe a method for eliminating cranial imaging artifacts in patients with craniofacial implants.Material and Methods: Three patients wearing extraoral implant retained facial prostheses needing either computed tomography or magnetic resonance imaging studies were discussed. Peri-implant soft tissues contracture after removal of percutaneous craniofacial implant abutments during computed tomography and magnetic resonance imaging studies was prevented using a method proposed by authors. The procedure involves temporary removal of the supra-implant components prior to imaging and filling of the tissue openings with polyvinyl siloxane dental impression material.Results: Immediately after filling of the tissue openings with polyvinyl siloxane dental impression material patients were sent for the imaging studies, and were asked to return for removal of the silicone plugs and reconnection of all superstructure hardware after imaging procedures were complete. The silicone plugs were easily removed with a dental explorer. The percutaneous abutments were immediately replaced and screwed into the implants which were at the bone level.Conclusions: Presented herein method eliminates the source of artifacts and prevents contracture of percutaneous tissues upon removal of the implant abutments during imaging.

Symptoms of Autism Among Children with Congenital Deafblindness

DEFF Research Database (Denmark)

Dammeyer, Jesper Herup

2014-01-01

concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children......Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported...... with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism....

Angiographic features of rapidly involuting congenital hemangioma (RICH)

Energy Technology Data Exchange (ETDEWEB)

Konez, Orhan; Burrows, Patricia E. [Department of Radiology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Mulliken, John B. [Division of Plastic Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Fishman, Steven J. [Department of Pediatric Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Kozakewich, Harry P.W. [Department of Pathology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States)

2003-01-01

Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma. (orig.)

Congenital hearing impairment

Energy Technology Data Exchange (ETDEWEB)

Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)

2006-04-15

Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

Congenital hearing impairment

International Nuclear Information System (INIS)

Robson, Caroline D.

2006-01-01

Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

Congenital hypothyroidism presenting with postpartum bradycardia

International Nuclear Information System (INIS)

Kara, S.; Tayman, C.; Tonbul, A.; Tatli, M.; Andiran, N.; Turkay, S.

2013-01-01

Congenital hypothyroidism is a clinical condition characterized by lack of thyroid hormone because of thyroid gland developmental and thyroid hormone biosynthesis disorders. The most common cause of permanent hypothyroidism is congenital factors. Prompt diagnosis is critical. However, overt signs of hypothyroidism are rarely present at birth, and 95% of affected babies are asymptomatic. Hypoxemia, apnea, acidosis, increased intracranial pressure, vagal stimulus and central nerve system abnormalities represent the most common causes of bradycardia in the neonate. Bradycardia associated with congenital hypothyroidism is very rare. In this paper, a case of severe congenital hypothyroidism, induced by maternal blocker antibodies, who presented with bradycardia, is reported. (author)

Congenital rubella syndrome and delayed manifestations

DEFF Research Database (Denmark)

Dammeyer, Jesper Herup

2010-01-01

Objective: Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. Methods: Gathering information about 35 individuals who hav...... which people with CRS face must primarily be understood in relation to congenital deafblindness and dual sensory and communicative deprivation....... CRS and who are congenitally deafblind. Results: None of the hypotheses could be confirmed when individuals with CRS were compared to a control group of individuals who were congenital deafblind with different aetiology than CRS. Conclusions: This study concludes that those health related problems...

Health in adults with congenital heart disease.

Science.gov (United States)

Cuypers, Judith A A E; Utens, Elisabeth M W J; Roos-Hesselink, Jolien W

2016-09-01

Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Inadvertent chest tube insertion in congenital cystic adenomatoid malformation and congenital lobar emphysema-highlighting an important problem

International Nuclear Information System (INIS)

Prabhu, Shailesh M; Choudhury, Subhasis Roy; Solanki, Ravi S; Shetty, Gurucharan S; Agarwala, Surenderkumar

2013-01-01

Chest tube insertion in congenital cystic lung lesions is an important problem in children with acute respiratory distress having a cystic lucent lesion on chest radiograph. To evaluate the imaging findings and complications in cases of congenital cystic lung lesions with chest tube insertion and suggest the role of appropriate imaging for management of these patients. Chest radiographs and CT scans of children with congenital cystic lung lesions who had inadvertent chest tube insertion preoperatively were retrospectively reviewed for imaging appearances and complications. Fifteen patients comprising 10 cases of congenital cystic adenomatoid malformation (CCAM) and 5 cases of congenital lobar emphysema (CLE) were included. Majority of the cases were infants. CCAM was misdiagnosed as complicated pneumatocele (n = 5) and pneumothorax (n = 5), while CLE was misdiagnosed as tension pneumothorax (n = 5) on the chest radiograph findings. Final diagnosis was made on CT and operative findings with histopathology. Complications noted were pneumothorax, hydropneumothorax, and infection in cases of CCAM, and change in imaging appearance and pneumothorax in cases of CLE. Chest tube insertion in congenital cystic lesions increases the rate of associated complications. Chest CT has a definite role in early diagnosis and deciding appropriate management in these cases

The prevalence of congenital anomalies in Europe

DEFF Research Database (Denmark)

Dolk, Helen; Loane, Maria; Garne, Ester

2010-01-01

EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomali...

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.

RISK FACTORS IN CHILD CONGENITAL MALFORMATIONS

OpenAIRE

Alina-Costina LUCA; Mirabela SUBOTNICU

2015-01-01

Congenital heart malformations are among the most common congenital malformations. Congenital heart malformations occur due to genetic and environmental factors during embryonic morphogenesis period of the heart. About 25% of these malformations are severe, requiring intervention immediately after birth or in infancy. Abnormalities of structure and function of the heart and great vessels are the consequence of teratogenic factors occurring between day 19 and 45 of gestation. (Yagel et al...

A group of patients with Marfan's syndrome, who have finger and toe contractures, displays tendons' alterations upon an ultrasound examination: are these features common among classical Marfan patients?

Science.gov (United States)

Melchiorre, Daniela; Pratelli, Elisa; Torricelli, Elena; Sofi, Francesco; Abbate, Rosanna; Matucci-Cerinic, Marco; Gensini, GianFranco; Pepe, Guglielmina

2016-08-01

The involvement of the musculoskeletal system with other mild pleiotropic manifestations represents a clinical criterion, called "systemic features," to d iagnose Marfan's syndrome. We aimed to investigate the features of the hands and feet redressable contractures present in a group of Marfan patients. In 13 patients with previously diagnosed Marfan's syndrome, an accurate clinical examination was performed. In particular the characterization of the musculoskeletal system by visual analogic scale to measure muscle pain (VAS) and muscle strength (MRC system) was carried out; the Beighton scale score was used to evaluate the articular hypermobility. Ultrasound examination (US) was performed to detect deep-superficial flexor tendons and extensor tendons of both hands, and the short and long flexor and extensor tendons of the fingers and toes in static and dynamic positions. The ImageJ program was adopted to measure a profile of tendon echo-intensity. A reduction of the thickness of all tendons was detected by US in our patients; the VAS and Beighton scale scores were in normal ranges. The profile of tendon echo-intensity showed different textural details in all Marfan patients. This study provides evidence for other contractures' localization, and for altered findings of the tendons in patients with Marfan syndrome and finger/toe contractures. These changes may be associated with structural modifications in connective tissue.

Influence Analysis of Shell Material and Charge on Shrapnel Lethal Power

Directory of Open Access Journals (Sweden)

Wang Lin

2015-01-01

Full Text Available To compare the shrapnel lethal power with different shell material and charge, LS-DYNA was used to numerically simulate four kinds of shrapnel lethal power. The shell material was 58SiMn, 50SiMnVB or 40Cr, whereas the charge was RL-F. And the shell material was 58SiMn, whereas the charge was TNT. The shell rupture process and lethal power test were analyzed. The results show that, the lethal power of RL-F charge increase by 25%, 45%, 14% compared with the TNT charge, whereas the shell material was 58SiMn, 50SiMnVB, 40Cr. And then the guarantee range and lethal power can be improved by using the high explosive and changing shell material, whereas the projectile shape coefficient is invariable.

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.

Science.gov (United States)

Jonker, Jara E; Liem, Eryn T; Elzenga, Nynke J; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M A

2016-12-01

To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies. Copyright © 2016 Elsevier Inc. All rights reserved.

Pseudoamblyopia in Congenital Cyclotropia

Directory of Open Access Journals (Sweden)

Antonio Frattolillo

2017-01-01

Full Text Available Purpose. To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. Methods. The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual performance in terms of best-corrected visual acuity (BCVA and stereopsis between the day before and one week after surgery were also evaluated. No other amblyopia treatment has been administered during the time study. Results. Surgical correction of the excyclodeviation in congenital SO palsy determined monocular and binocular sensory consequences: monocularly, in the cyclodeviated amblyopic eye, BCVA (0.46–0.03 LogMAR; p<0.0001 and the fixation pattern improved, as demonstrated by microperimetry examination. Binocularly, stereopsis improved or emerged while suppression at the Worth four-dot test disappeared. Conclusions. In the absence of further amblyopic factors such as coexisting constant vertical and/or horizontal deviation and anisometropia, the amblyopia encountered in congenital SO palsy may resolve soon after the surgical alignment. Therefore, it may be considered and defined “pseudoamblyopia.”

Induction of congenital malformations in the offspring of male mice treated with X-rays at pre-meiotic and post-meiotic stages

International Nuclear Information System (INIS)

Kirk, K.M.; Lyon, M.F.

1984-01-01

The induction of congenital malformations among the offspring of male mice treated with X-rays at pre-meiotic and post-meiotic stages has been studied in two experiments. Firstly, animals were exposed to varying doses of X-rays and mated at various time intervals, so as to sample spermatozoa, spermatids and spermatogonial stem cells. In the second experiment, only treated spermatogonial stem cells were sampled. One group of males was given a single dose, a second group a fractionated dose and a third group was left unexposed. In the first experiment, induced post-implantation dominant lethality increased with dose, and was highest in week 3, in line with the known greater radiosensitivity of the early spermatid stage. Preimplantation loss also increased with dose and was highest in week 3. There was no clear induction of either pre-implantation or post-implantation loss at spermatogonial stem cell stages. There was a clear induction of congenital malformations at post-meiotic stages. At the two highest doses the early spermatids (15-21 days) appeared more sensitive than spermatozoa, and at this stage the incidence of malformations increased with dose. Expt. 2 showed a statistically significant induction of malformations at both dose levels. The relative sensitivities of male stem cells, post-meiotic stages and mature oocytes to the induction of congenital malformations were reasonably similar to their sensitivities for specific-locus mutations, except that the expected enhancing effect of the fractionation regime used was not seen. (Auth.)

Induction of congenital malformations in the offspring of male mice treated with X-rays at pre-meiotic and post-meiotic stages

Energy Technology Data Exchange (ETDEWEB)

Kirk, K.M.; Lyon, M.F. (Medical Research Council, Harwell (UK). Radiobiological Research Unit)

1984-01-01

The induction of congenital malformations among the offspring of male mice treated with X-rays at pre-meiotic and post-meiotic stages has been studied in two experiments. Firstly, animals were exposed to varying doses of X-rays and mated at various time intervals, so as to sample spermatozoa, spermatids and spermatogonial stem cells. In the second experiment, only treated spermatogonial stem cells were sampled. One group of males was given a single dose, a second group a fractionated dose and a third group was left unexposed. In the first experiment, induced post-implantation dominant lethality increased with dose, and was highest in week 3, in line with the known greater radiosensitivity of the early spermatid stage. Preimplantation loss also increased with dose and was highest in week 3. There was no clear induction of either pre-implantation or post-implantation loss at spermatogonial stem cell stages. There was a clear induction of congenital malformations at post-meiotic stages. At the two highest doses the early spermatids (15-21 days) appeared more sensitive than spermatozoa, and at this stage the incidence of malformations increased with dose. Expt. 2 showed a statistically significant induction of malformations at both dose levels. The relative sensitivities of male stem cells, post-meiotic stages and mature oocytes to the induction of congenital malformations were reasonably similar to their sensitivities for specific-locus mutations, except that the expected enhancing effect of the fractionation regime used was not seen.

Congenital toxoplasmosis.

Science.gov (United States)

Kieffer, François; Wallon, Martine

2013-01-01

Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy. Prevalence of congenital infection ranges from 0.1 to 0.3 per 1000 live births. The maternal-fetal transmission rate increases with gestational age at maternal seroconversion, from less than 15% at 13 weeks of gestation to over 70% at 36 weeks. Conversely, the later the maternal infection, the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid. Antenatal management and treatment vary considerably among countries. In some European countries, maternal infections are detected through serological screening allowing a prompt treatment with spiramycin, which is expected to reduce the risk of vertical transmission. If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy, a combination with pyrimethamine and sulphonamide is given until delivery. Benefits of antenatal treatments remain controversial. Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months. Despite antenatal and postnatal treatment, chorioretinitis can occur at any age (prevalence>20% at 10 years of age): long-term ophthalmological follow-up remains necessary. Copyright © 2013 Elsevier B.V. All rights reserved.

Inhibitory action of chlorophyllin of autosome recessive lethals induced by irradiation

International Nuclear Information System (INIS)

Salceda, V.M.; Pimentel, P.A.E.; Cruces, M.P.

2006-01-01

The chlorophyllin is a sodium salt of the chlorophyll that has a strong protective action of the damage induced by different agents so much physical as chemical. In Drosophila there is reported this effect in somatic cells. In contrast, in germinal cells using tests with the sexual chromosomes has not been found such inhibitory action. For this reason, in this occasion we will refer to the effect of the lethality induced in autosome chromosomes, in particular to the chromosome II of this species. For such effect groups of males of the line Canton-S its were pre-treated for 24h with or without 69 mm of CCS and later on treaties with or without 40 Gy of gamma irradiation. The males were then subjected to the technical Cy L / Pm for the detection of recessive lethals. In the third generation the respective counts of the descendant of each one of them to determine the corresponding categories for each extracted chromosome were made. To be mendelian crosses it is expected for a normal chromosome a proportion 2:1 of individuals with genotype Cy L / +: +/+. The absence of individuals +/+ it is indicative of a lethal gene, until 10% of these individuals of each male's total descendant, it is considered that is carrying of a semi lethal gene. The sum of lethal and semi lethals constitutes the category detrimental. The obtained results indicated that the pre-treatment with CCS reduces in a significant way the frequency of induced lethals by 40 Gy of gamma rays. The fact that an effect inhibitor has not been observed in the test of recessive lethal bound to the sex obtained previously, it contrasts with the effect observed in the chromosome II, results of this study and with the one observed in the chromosome III in somatic cells. The above-mentioned shows a differential action of the CCS between sexual chromosomes and autosomal before the effect of the gamma radiation. At the moment we don't have an explanation to these evidences. To evaluate the action of the chlorophyllin

Lethal and Sub-lethal Effects of Four Insecticides on the Aphidophagous Coccinellid Adalia bipunctata (Coleoptera: Coccinellidae).

Science.gov (United States)

Depalo, Laura; Lanzoni, Alberto; Masetti, Antonio; Pasqualini, Edison; Burgio, Giovanni

2017-12-05

Conventional insecticide assays, which measure the effects of insecticide exposure on short-term mortality, overlook important traits, including persistence of toxicity or sub-lethal effects. Therefore, such approaches are especially inadequate for prediction of the overall impact of insecticides on beneficial arthropods. In this study, the side effects of four modern insecticides (chlorantraniliprole, emamectin benzoate, spinosad, and spirotetramat) on Adalia bipunctata (L.) (Coleoptera: Coccinellidae) were evaluated under laboratory conditions by exposition on treated potted plants. In addition to investigation of acute toxicity and persistence of harmful activity in both larvae and adults of A. bipunctata, demographic parameters were evaluated, to provide a comprehensive picture of the nontarget effects of these products. Field doses of the four insecticides caused detrimental effects to A. bipunctata; but in different ways. Overall, spinosad showed the best toxicological profile among the products tested. Emamectin benzoate could be considered a low-risk insecticide, but had high persistence. Chlorantraniliprole exhibited lethal effects on early instar larvae and adults, along with a long-lasting activity, instead spirotetramat showed a low impact on larval and adult mortality and can be considered a short-lived insecticide. However, demographic analysis demonstrated that chlorantraniliprole and spirotetramat caused sub-lethal effects. Our findings highlight that sole assessment of mortality can lead to underestimation of the full impact of pesticides on nontarget insects. Demographic analysis was demonstrated to be a sensitive method for detection of the sub-lethal effects of insecticides on A. bipunctata, and this approach should be considered for evaluation of insecticide selectivity. © The Author(s) 2017. Published by Oxford University Press on behalf of Entomological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Radiographic observation of congenital diaphragmatic hernia

International Nuclear Information System (INIS)

Rhee, Chung Sik

1973-01-01

Five cases of congenital diaphragmatic hernia. Case 1: A female infant, birth weight 2.25 kg, Apgar score 10, normal delivery at 11:33 P.M. on Feb.8, 1972. Lt side congenital diaphragmatic hernia. Case 2: A female infant, birth weight 1.48 kg, Apgar score 5, normal delivery at 11:20 A.M. on Oct.14, 1972. Lt. side congenital diaphragmatic hernia. This infant was twin. this infant's mother was toxemia. Case 3; A 33 years old women was admitted to the our hospital because of Lt.hip joint pain without other symptoms. Date of admission: Jan. 8, 1973. Rt side congenital diaphragmentic hernia. Case 4: A 4 month infant male was admitted to the our hospital because of vomiting, dyspnea and abdominal pain. He had cyanosis intermittently after one month ago. This infant was normal delivered. The family history was not contributory. Date of admission: This infant was normal delivered. The family history was not contributory. Date of admission: Aug. 30, 1971. Rt side congenital diaphragmatic hernia. Case 5: A 13 years old girl was admitted to our hospital because of general weakness without other symptoms. This patient was normal delivered. The family history was not contributory. Date of admission: March. 15, 1973. Lt. side congenital diaphragmentic hernia

Radiographic observation of congenital diaphragmatic hernia

Energy Technology Data Exchange (ETDEWEB)

Rhee, Chung Sik [Ewha Women' s University College of Medicine, Seoul (Korea, Republic of)

1973-12-15

Five cases of congenital diaphragmatic hernia. Case 1: A female infant, birth weight 2.25 kg, Apgar score 10, normal delivery at 11:33 P.M. on Feb.8, 1972. Lt side congenital diaphragmatic hernia. Case 2: A female infant, birth weight 1.48 kg, Apgar score 5, normal delivery at 11:20 A.M. on Oct.14, 1972. Lt. side congenital diaphragmatic hernia. This infant was twin. this infant's mother was toxemia. Case 3; A 33 years old women was admitted to the our hospital because of Lt.hip joint pain without other symptoms. Date of admission: Jan. 8, 1973. Rt side congenital diaphragmentic hernia. Case 4: A 4 month infant male was admitted to the our hospital because of vomiting, dyspnea and abdominal pain. He had cyanosis intermittently after one month ago. This infant was normal delivered. The family history was not contributory. Date of admission: This infant was normal delivered. The family history was not contributory. Date of admission: Aug. 30, 1971. Rt side congenital diaphragmatic hernia. Case 5: A 13 years old girl was admitted to our hospital because of general weakness without other symptoms. This patient was normal delivered. The family history was not contributory. Date of admission: March. 15, 1973. Lt. side congenital diaphragmentic hernia.

Experiences in therapy for lethal midline granuloma

International Nuclear Information System (INIS)

Tosaka, Kaoru; Ishikawa, Takeru

1982-01-01

Four cases of the lethal midline granuloma or malignant granuloma of the nose were treated by irradiation and chemotherapy, which are generally prescribed for malignant lymphomas. Clinical, histological and laboratory examination indicated that they were the lethal midline granuloma and clearly differentiated from Wegener's granulomatosis or malignant lymphoma. All of the cases exhibited primary remission. The four cases were observed up to 38, 22, 14, and 10 months since the beginning of the therapy, showing no local or general recurrence. (author)

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.

Science.gov (United States)

Wang, Haicui; Salter, Claire G; Refai, Osama; Hardy, Holly; Barwick, Katy E S; Akpulat, Ugur; Kvarnung, Malin; Chioza, Barry A; Harlalka, Gaurav; Taylan, Fulya; Sejersen, Thomas; Wright, Jane; Zimmerman, Holly H; Karakaya, Mert; Stüve, Burkhardt; Weis, Joachim; Schara, Ulrike; Russell, Mark A; Abdul-Rahman, Omar A; Chilton, John; Blakely, Randy D; Baple, Emma L; Cirak, Sebahattin; Crosby, Andrew H

2017-11-01

The presynaptic, high-affinity choline transporter is a critical determinant of signalling by the neurotransmitter acetylcholine at both central and peripheral cholinergic synapses, including the neuromuscular junction. Here we describe an autosomal recessive presynaptic congenital myasthenic syndrome presenting with a broad clinical phenotype due to homozygous choline transporter missense mutations. The clinical phenotype ranges from the classical presentation of a congenital myasthenic syndrome in one patient (p.Pro210Leu), to severe neurodevelopmental delay with brain atrophy (p.Ser94Arg) and extend the clinical outcomes to a more severe spectrum with infantile lethality (p.Val112Glu). Cells transfected with mutant transporter construct revealed a virtually complete loss of transport activity that was paralleled by a reduction in transporter cell surface expression. Consistent with these findings, studies to determine the impact of gene mutations on the trafficking of the Caenorhabditis elegans choline transporter orthologue revealed deficits in transporter export to axons and nerve terminals. These findings contrast with our previous findings in autosomal dominant distal hereditary motor neuropathy of a dominant-negative frameshift mutation at the C-terminus of choline transporter that was associated with significantly reduced, but not completely abrogated choline transporter function. Together our findings define divergent neuropathological outcomes arising from different classes of choline transporter mutation with distinct disease processes and modes of inheritance. These findings underscore the essential role played by the choline transporter in sustaining acetylcholine neurotransmission at both central and neuromuscular synapses, with important implications for treatment and drug selection. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Etiological evaluation of primary congenital hypothyroidism cases.

Science.gov (United States)

Bezen, Diğdem; Dilek, Emine; Torun, Neşe; Tütüncüler, Filiz

2017-06-01

Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study. Thyroid hormon levels were evaluated and thyroid ultrasonography was performed in cases who are at the end of their 3 years of age, after 6 weeks of thyroxine free period. Thyroid sintigraphy was performed if serum thyroid-stimulating hormone was high (≥ 5 mIU/mL) and perchlorate discharge test was performed if uptake was normal or increased on sintigraphy. Cases with thyroid-stimulating hormone levels ≥ 5 mIU/mL were defined as permanent primary congenital hypothyroidism group and as transient primary congenital hypothyroidism group with normal thyroid hormones during 6 months. The mean age was 3.8±0.7 years. Mean diagnosis age was 16.6±6.5 days and 14 cases (29.2%) were diagnosed by screening program of Ministry of Health. There were 23 cases (14F, 9M) in permanent primary congenital hypothyroidism group and 12 (52.2%) of them were dysgenesis (8 hypoplasia, 4 ectopia), and 11 (47.8%) dyshormonogenesis. In transient primary congenital hypothyroidism group, there were 25 cases (17M, 8F). The mean thyroid-stimulating hormone levels at diagnosis were similar in two groups. The mean thyroxin dose in permanent primary congenital hypothyroidism group was significantly higher than transient group at the time of thyroxin cessation (2.1±0.7, 1.5±0.5 mg/kg/d, respectively, p=0.004). Thyroxin dose ≥1.6 mcg/kg/d was 72% sensitive and 69.6% specific for predicting permenant primary congenital hypothyroidism. Transient primary

The genetic landscape of familial congenital hydrocephalus.

Science.gov (United States)

Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

2017-06-01

Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

Congenital syphilis: literature review

Directory of Open Access Journals (Sweden)

Eduardo Chaida Sonda

2013-01-01

Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

What Are Congenital Heart Defects?

Science.gov (United States)

... a baby with a congenital heart defect. Family history and genetics Congenital heart disease is not usually passed along ... you or your child to a specialist in genetic testing. Cardiac MRI to diagnose a ... Factors to review family history, smoking, and medicines that increase your risk of ...

Back to the future: revisiting HIV-1 lethal mutagenesis

Science.gov (United States)

Dapp, Michael J.; Patterson, Steven E.; Mansky, Louis M.

2012-01-01

The concept of eliminating HIV-1 infectivity by elevating the viral mutation rate was first proposed over a decade ago, even though the general concept had been conceived earlier for RNA viruses. Lethal mutagenesis was originally viewed as a novel chemotherapeutic approach for treating HIV-1 infection in which use of a viral mutagen would over multiple rounds of replication lead to the lethal accumulation of mutations, rendering the virus population non infectious – known as the slow mutation accumulation model. There have been limitations in obtaining good efficacy data with drug leads, leaving some doubt into clinical translation. More recent studies of the APOBEC3 proteins as well as new progress in the use of nucleoside analogs for inducing lethal mutagenesis have helped to refocus attention on rapid induction of HIV-1 lethal mutagenesis in a single or limited number of replication cycles leading to a rapid mutation accumulation model. PMID:23195922

Notes from the Field: Zika Virus-Associated Neonatal Birth Defects Surveillance - Texas, January 2016-July 2017.

Science.gov (United States)

Hall, Noemi Borsay; Broussard, Kelly; Evert, Nicole; Canfield, Mark

2017-08-11

On November 28, 2016, the Texas Department of State Health Services (Texas DSHS) reported its first confirmed case of local mosquitoborne Zika virus transmission in the city of Brownsville, located in south Texas along the U.S.-Mexico border. Zika virus infection during pregnancy has been linked to adverse congenital outcomes including microcephaly, neural tube defects, early brain malformations, structural eye abnormalities, congenital deafness, and limb contractures (1). On January 1, 2016, Texas DSHS established enhanced surveillance to identify women with laboratory evidence of possible Zika virus infection during pregnancy and suspected cases of Zika virus-associated birth defects among completed pregnancies.

Surgical management of idiopathic torticollis secondary to a fibrotic band

Directory of Open Access Journals (Sweden)

Christopher David Jones

2012-09-01

Full Text Available Congenital muscular torticollis (CMT is the third commonest congenital deformity, commonly presenting in the first week of life. Due to contracture and shortening of the sternocleidomastoid muscle, the head is tilted towards the affected side; however there may also be a varying degree of rotation towards the contralateral side. Most infants with CMT can be managed non-surgically, however if this is unsuccessful surgery may be necessary, with many different techniques described. In this case report, we describe a 17-year old woman with persistent left sided CMT despite botulinum toxin paralysis that was successfully treated with surgery.

Differential Protein Expression in Congenital and Acquired Cholesteatomas.

Directory of Open Access Journals (Sweden)

Seung-Ho Shin

Full Text Available Congenital cholesteatomas are epithelial lesions that present as an epithelial pearl behind an intact eardrum. Congenital and acquired cholesteatomas progress quite differently from each other and progress patterns can provide clues about the unique origin and pathogenesis of the abnormality. However, the exact pathogenic mechanisms by which cholesteatomas develop remain unknown. In this study, key proteins that directly affect cholesteatoma pathogenesis are investigated with proteomics and immunohistochemistry. Congenital cholesteatoma matrices and retroauricular skin were harvested during surgery in 4 patients diagnosed with a congenital cholesteatoma. Tissue was also harvested from the retraction pocket in an additional 2 patients during middle ear surgery. We performed 2-dimensional (2D electrophoresis to detect and analyze spots that are expressed only in congenital cholesteatoma and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF/MS to separate proteins by molecular weight. Protein expression was confirmed by immunohistochemical staining. The image analysis of 2D electrophoresis showed that 4 congenital cholesteatoma samples had very similar protein expression patterns and that 127 spots were exclusively expressed in congenital cholesteatomas. Of these 127 spots, 10 major spots revealed the presence of titin, forkhead transcription activator homolog (FKH 5-3, plectin 1, keratin 10, and leucine zipper protein 5 by MALDI-TOF/MS analysis. Immunohistochemical staining showed that FKH 5-3 and titin were expressed in congenital cholesteatoma matrices, but not in acquired cholesteatomas. Our study shows that protein expression patterns are completely different in congenital cholesteatomas, acquired cholesteatomas, and skin. Moreover, non-epithelial proteins, including FKH 5-3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. Our data indicates that congenital cholesteatoma origins

Perinatal-lethal Gaucher disease presenting as hydrops fetalis.

Science.gov (United States)

BenHamida, Emira; Ayadi, Imene; Ouertani, Ines; Chammem, Maroua; Bezzine, Ahlem; BenTmime, Riadh; Attia, Leila; Mrad, Ridha; Marrakchi, Zahra

2015-01-01

Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogryposis. We report a case of Gaucher's disease (type 2) diagnosed in a newborn who presented with Hydrops Fetalis.

Congenital pseudoarthrosis associated with venous malformation

International Nuclear Information System (INIS)

Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N.; Hamamy, H.; Al-Hadidi, S.

2007-01-01

Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

Congenital pseudoarthrosis associated with venous malformation

Energy Technology Data Exchange (ETDEWEB)

Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

2007-06-15

Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

Genetics of Congenital Heart Disease: Past and Present.

Science.gov (United States)

Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

2017-04-01

Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

Comorbid Conditions in Neonates With Congenital Heart Disease.

Science.gov (United States)

Krishnamurthy, Ganga; Ratner, Veniamin; Bacha, Emile; Aspelund, Gudrun

2016-08-01

The objectives of this review are to discuss the pathophysiology, clinical impact and treatment of major noncardiac anomalies, and prematurity in infants with congenital heart disease. MEDLINE and PubMed. Mortality risk is significantly higher in patients with congenital heart disease and associated anomalies compared with those in whom the heart defect occurs in isolation. Although most noncardiac structural anomalies do not require surgery in the neonatal period, several require surgery for survival. Management of such infants poses multiple challenges. Premature infants with congenital heart disease face challenges imposed by their immature organ systems, which are susceptible to injury or altered function by congenital heart disease and abnormal circulatory physiology independent of congenital heart disease. For optimal outcomes in premature infants or in infants with multiple congenital anomalies, a collaborative interdisciplinary approach is necessary.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

Science.gov (United States)

Knierim, Ellen; Hirata, Hiromi; Wolf, Nicole I.; Morales-Gonzalez, Susanne; Schottmann, Gudrun; Tanaka, Yu; Rudnik-Schöneborn, Sabine; Orgeur, Mickael; Zerres, Klaus; Vogt, Stefanie; van Riesen, Anne; Gill, Esther; Seifert, Franziska; Zwirner, Angelika; Kirschner, Janbernd; Goebel, Hans Hilmar; Hübner, Christoph; Stricker, Sigmar; Meierhofer, David; Stenzel, Werner; Schuelke, Markus

2016-01-01

Transcriptional signal cointegrators associate with transcription factors or nuclear receptors and coregulate tissue-specific gene transcription. We report on recessive loss-of-function mutations in two genes (TRIP4 and ASCC1) that encode subunits of the nuclear activating signal cointegrator 1 (ASC-1) complex. We used autozygosity mapping and whole-exome sequencing to search for pathogenic mutations in four families. Affected individuals presented with prenatal-onset spinal muscular atrophy (SMA), multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, and congenital bone fractures. We identified homozygous and compound-heterozygous nonsense and frameshift TRIP4 and ASCC1 mutations that led to a truncation or the entire absence of the respective proteins and cosegregated with the disease phenotype. Trip4 and Ascc1 have identical expression patterns in 17.5-day-old mouse embryos with high expression levels in the spinal cord, brain, paraspinal ganglia, thyroid, and submandibular glands. Antisense morpholino-mediated knockdown of either trip4 or ascc1 in zebrafish disrupted the highly patterned and coordinated process of α-motoneuron outgrowth and formation of myotomes and neuromuscular junctions and led to a swimming defect in the larvae. Immunoprecipitation of the ASC-1 complex consistently copurified cysteine and glycine rich protein 1 (CSRP1), a transcriptional cofactor, which is known to be involved in spinal cord regeneration upon injury in adult zebrafish. ASCC1 mutant fibroblasts downregulated genes associated with neurogenesis, neuronal migration, and pathfinding (SERPINF1, DAB1, SEMA3D, SEMA3A), as well as with bone development (TNFRSF11B, RASSF2, STC1). Our findings indicate that the dysfunction of a transcriptional coactivator complex can result in a clinical syndrome affecting the neuromuscular system. PMID:26924529

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts

Directory of Open Access Journals (Sweden)

Satoru Noguchi

2014-01-01

Full Text Available Ullrich congenital muscular dystrophy (UCMD is an inherited muscle disorder characterized clinically by muscle weakness, distal joint hyperlaxity, and proximal joint contractures. Sporadic and recessive mutations in the three collagen VI genes, COL6A1, COL6A2, and COL6A3, are reported to be causative. In the sporadic forms, a heterozygous point mutation causing glycine substitution in the triple helical domain has been identified in higher rate. In this study, we examined the efficacy of siRNAs, which target point mutation site, on specific knockdown toward transcripts from mutant allele and evaluated consequent cellular phenotype of UCMD fibroblasts. We evaluated the effect of siRNAs targeted to silence-specific COL6A1 alleles in UCMD fibroblasts, where simultaneous expression of both wild-type and mutant collagen VI resulted in defective collagen localization. Addition of mutant-specific siRNAs allowed normal extracellular localization of collagen VI surrounding fibroblasts, suggesting selective inhibition of mutant collagen VI. Targeting the single-nucleotide COL6A1 c.850G>A (p.G284R mutation responsible a sporadic autosomal dominant form of UCMD can potently and selectively block expression of mutant collagen VI. These results suggest that allele-specific knockdown of the mutant mRNA can potentially be considered as a therapeutic procedure in UCMD due to COL6A1 point mutations.

Lethal neonatal short-limbed dwarfism

International Nuclear Information System (INIS)

Kim, Ok Hwa; Yim, Chung Ik; Bahk, Yong Whee

1986-01-01

We have detailed our experiences on 6 cases of neonatal lethal short-limbed dwarfism and reviewed the articles. They include, achondrogenesis, thanatophoric dysplasia, asphyxiating thoracic dysplasia, osteogenesis imperfect a congenita, and hypophosphatasia lethals. Five babies were born alive but died soon after birth and one was a stillbirth. The main cause of failure to thrive was respiratory insufficiency. Each case was having quite characteristic radiologic findings, even if the general appearances were similar to the achondroplasts clinically. Precise diagnosis is very important for genetic counselling of the parents and alarm to them the possibility of bone dysplasias to the next offsprings. For this purpose, the radiologists play major role for the correct diagnosis. We stress that when the baby is born with short-limbed dwarfism, whole body radiogram should be taken including lateral view and postmortem radiogram is also very precious.

Lethal neonatal short-limbed dwarfism

Energy Technology Data Exchange (ETDEWEB)

Kim, Ok Hwa; Yim, Chung Ik; Bahk, Yong Whee [Catholic Medical College, Seoul (Korea, Republic of)

1986-02-15

We have detailed our experiences on 6 cases of neonatal lethal short-limbed dwarfism and reviewed the articles. They include, achondrogenesis, thanatophoric dysplasia, asphyxiating thoracic dysplasia, osteogenesis imperfect a congenita, and hypophosphatasia lethals. Five babies were born alive but died soon after birth and one was a stillbirth. The main cause of failure to thrive was respiratory insufficiency. Each case was having quite characteristic radiologic findings, even if the general appearances were similar to the achondroplasts clinically. Precise diagnosis is very important for genetic counselling of the parents and alarm to them the possibility of bone dysplasias to the next offsprings. For this purpose, the radiologists play major role for the correct diagnosis. We stress that when the baby is born with short-limbed dwarfism, whole body radiogram should be taken including lateral view and postmortem radiogram is also very precious.

Subscapularis slide correction of the shoulder internal rotation contracture after brachial plexus birth injury: technique and outcomes.

Science.gov (United States)

Immerman, Igor; Valencia, Herbert; DiTaranto, Patricia; DelSole, Edward M; Glait, Sergio; Price, Andrew E; Grossman, John A I

2013-03-01

Internal rotation contracture is the most common shoulder deformity in patients with brachial plexus birth injury. The purpose of this investigation is to describe the indications, technique, and results of the subscapularis slide procedure. The technique involves the release of the subscapularis muscle origin off the scapula, with preservation of anterior shoulder structures. A standard postoperative protocol is used in all patients and includes a modified shoulder spica with the shoulder held in 60 degrees of external rotation and 30 degrees of abduction, aggressive occupational and physical therapy, and subsequent shoulder manipulation under anesthesia with botulinum toxin injections as needed. Seventy-one patients at 2 institutions treated with subscapularis slide between 1997 and 2010, with minimum follow-up of 39.2 months, were identified. Patients were divided into 5 groups based on the index procedure performed: subscapularis slide alone (group 1); subscapularis slide with a simultaneous microsurgical reconstruction (group 2); primary microsurgical brachial plexus reconstruction followed later by a subscapularis slide (group 3); primary microsurgical brachial plexus reconstruction followed later by a subscapularis slide combined with tendon transfers for shoulder external rotation (group 4); and subscapularis slide with simultaneous tendon transfers, with no prior brachial plexus surgery (group 5). Full passive external rotation equivalent to the contralateral side was achieved in the operating room in all cases. No cases resulted in anterior instability or internal rotation deficit. Internal rotation contracture of the shoulder after brachial plexus birth injury can be effectively managed with the technique of subscapularis slide.

Surgical management of Dupuytren's contracture in Europe: regional analysis of a surgeon survey and patient chart review.

Science.gov (United States)

Dias, J; Bainbridge, C; Leclercq, C; Gerber, R A; Guerin, D; Cappelleri, J C; Szczypa, P P; Dahlin, L B

2013-03-01

We explored regional variations in the surgical management of patients with Dupuytren's contracture (DC) in 12 European countries using a surgeon survey and patient chart review. Twelve countries participated: Denmark, Finland, Sweden (Nordic region); Czech Republic, Hungary, Poland (East); France, Germany, the Netherlands, UK (West); Italy, Spain (Mediterranean). For the survey, a random sample of orthopaedic/plastic surgeons (n = 687) with 3-30 years' experience was asked about DC procedures performed during the previous 12 months. For the chart review (n = 3357), information from up to five consecutive patients was extracted. Descriptive statistics are reported. Ninety-five per cent of all surgeons used fasciectomy for DC, followed by fasciotomy (70%), dermofasciectomy (38%) and percutaneous needle fasciotomy (35%). Most surgeons were satisfied with fasciectomy over other procedures. Recommended time away from work and duration of physical therapy increased with the invasiveness of the procedure. The intra-operative complication rate was 4.0%; the postoperative complication rate was 34%. Overall, ≥ 97% of the procedures were rated by surgeons as having a positive outcome. Across all regions, 54% of patients had no nodules or contracture after the procedures. Only 2% of patients required retreatment within the first year of surgery. Important inter- and intraregional differences in these aspects of patient management are described. Understanding current regional treatment patterns and their relationships to country-specific health systems may facilitate earlier identification of, and intervention for, DD and help to optimise the overall treatment for patients with this chronic condition. © 2013 Blackwell Publishing Ltd.

Effectiveness and Complications of Percutaneous Needle Tenotomy with a Large Needle for Muscle Contractures: A Cadaver Study.

Directory of Open Access Journals (Sweden)

Camille Chesnel

Full Text Available Twenty-two percent of institutionalised elderly persons have muscle contractures. Contractures have important functional consequences, rendering hygiene and positioning in bed or in a chair difficult. Medical treatment (such as botulinum toxin injections, physiotherapy or positioning is not very effective and surgery may be required. Surgery is carried out in the operating theatre, under local or general anaesthesia but is often not possible in fragile patients. Mini-invasive tenotomy could be a useful alternative as it can be carried out in ambulatory care, under local anaesthesia.To evaluate the effectiveness of percutaneous needle tenotomy and the risks of damage to adjacent structures in cadavers.Thirty two doctors who had never practiced the technique (physical medicine and rehabilitation specialists, geriatricians and orthopaedic surgeons carried out 401 tenotomies on the upper and lower limbs of 8 fresh cadavers. A 16G needle was used percutaneous following location of the tendons. After each tenotomy, a neuro-orthopaedic surgeon and an anatomist dissected the area in order to evaluate the success of the tenotomy and any adjacent lesions which had occurred.Of the 401 tenotomies, 72% were complete, 24.9% partial and 2.7% failed. Eight adjacent lesions occurred (2%: 4 (1% in tendons or muscles, 3 (0.7% in nerves and 1 (0.2% in a vessel.This percutaneous needle technique effectively ruptured the desired tendons, with few injuries to adjacent structures. Although this study was carried out on cadavers, the results suggest it is safe to carry out on patients.

Effectiveness and Complications of Percutaneous Needle Tenotomy with a Large Needle for Muscle Contractures: A Cadaver Study.

Science.gov (United States)

Chesnel, Camille; Genêt, François; Almangour, Waleed; Denormandie, Philippe; Parratte, Bernard; Schnitzler, Alexis

2015-01-01

Twenty-two percent of institutionalised elderly persons have muscle contractures. Contractures have important functional consequences, rendering hygiene and positioning in bed or in a chair difficult. Medical treatment (such as botulinum toxin injections, physiotherapy or positioning) is not very effective and surgery may be required. Surgery is carried out in the operating theatre, under local or general anaesthesia but is often not possible in fragile patients. Mini-invasive tenotomy could be a useful alternative as it can be carried out in ambulatory care, under local anaesthesia. To evaluate the effectiveness of percutaneous needle tenotomy and the risks of damage to adjacent structures in cadavers. Thirty two doctors who had never practiced the technique (physical medicine and rehabilitation specialists, geriatricians and orthopaedic surgeons) carried out 401 tenotomies on the upper and lower limbs of 8 fresh cadavers. A 16G needle was used percutaneous following location of the tendons. After each tenotomy, a neuro-orthopaedic surgeon and an anatomist dissected the area in order to evaluate the success of the tenotomy and any adjacent lesions which had occurred. Of the 401 tenotomies, 72% were complete, 24.9% partial and 2.7% failed. Eight adjacent lesions occurred (2%): 4 (1%) in tendons or muscles, 3 (0.7%) in nerves and 1 (0.2%) in a vessel. This percutaneous needle technique effectively ruptured the desired tendons, with few injuries to adjacent structures. Although this study was carried out on cadavers, the results suggest it is safe to carry out on patients.

Genetics Home Reference: severe congenital neutropenia

Science.gov (United States)

... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... Genetic Testing Registry: Severe congenital neutropenia 2, autosomal dominant Genetic Testing Registry: Severe congenital neutropenia 3, autosomal ...

Genetic Counseling for Congenital Heart Defects

Science.gov (United States)

... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Jan 19,2018 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

Genetics Home Reference: congenital dyserythropoietic anemia

Science.gov (United States)

... Facebook Twitter Home Health Conditions CDA Congenital dyserythropoietic anemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

Congenital spinal malformations

International Nuclear Information System (INIS)

Ertl-Wagner, B.B.; Reiser, M.F.

2001-01-01

Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

Congenital laryngeal anomalies,

Directory of Open Access Journals (Sweden)

Michael J. Rutter

2014-12-01

Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

Congenital hypothyroidism: insights into pathogenesis and treatment

OpenAIRE

Cherella, Christine E.; Wassner, Ari J.

2017-01-01

Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly. While newborn screening has virtually eradicated intellectual disability due to severe congenital hypothyroidism in the developed world, more stringent screening strategies have resulted in increased detection of mild congenital hypothyroidism. Recent studies provide conflicting evidence about the potential neurodevelopmental risks...

Bruck syndrome: a case report

Directory of Open Access Journals (Sweden)

Дмитрий Степанович Буклаев

2015-09-01

Full Text Available The article describes the clinical case of an infant with Bruck syndrome. The clinical and radiological analyses showed the presence of systemic osteoporosis with pathological fractures; contractures of the elbow, knee, and ankle joints; delay of physical and motor development; and signs of hypoplasia in some of the muscle groups. There was also a right-sided congenital muscular torticollis. X-ray analysis revealed a moderate antecurvation deformity of the lower legs and femurs, with cortical thinning. Laboratory data detected an abnormal beta-cross lap increase.Treatment of osteoporosis by inhibitors of osteoclastic resorption (pamidronate had a positive effect, and the elimination of flexion contractures at the elbow using plaster bandages with the distraction device also resulted in a positive effect.

Congenital rubella

Science.gov (United States)

... that usually closes shortly after birth remains open ( patent ductus arteriosus ) Narrowing of the large artery that ... prior to pregnancy can prevent congenital rubella. Pregnant women who have not had the vaccine should avoid ...

Congenital heart disease with high origin of coronary artery

International Nuclear Information System (INIS)

Zhu Ming; Li Yuhua; Zhong Yumin

2002-01-01

Objective: To report 6 cases of congenital heart disease with high origin of coronary artery and to evaluate the imaging method for diagnosis of congenital high origin of coronary artery. Methods: Six patients with congenital high origin of coronary artery underwent angiocardiography, echocardiography, and 2 patients also underwent magnetic resonance examination. All 6 cases were confirmed by operation. Results: All 6 cases were congenital high origin of right coronary artery. Angiocardiography made correct diagnosis in all 6 cases; MRI made the correct diagnosis in 1 of the 2 cases; echocardiography made 1 correct diagnosis. Conclusion: Correct diagnosis of congenital high origin of coronary artery was very important for patients with congenital heart disease. Angiocardiography was a very reliable imaging method and MRI can play an important role in preoperative diagnosis of congenital high origin of coronary artery

Adult Congenital Heart Disease: Scope of the Problem.

Science.gov (United States)

Mazor Dray, Efrat; Marelli, Ariane J

2015-11-01

This article reviews the changing epidemiology of congenital heart disease summarizing its impact on the demographics of the congenital heart disease population and the progress made in order to improve outcomes in this patient population. Birth prevalence of congenital heart disease can be modified by many factors. As a result of decreasing mortality and increasing survival in all forms of congenital heart disease, the median age of patients has increased and adults now compose two-thirds of patients with congenital heart disease. Disease burden and resulting health services utilization increase significantly across the lifespan. Bridging the gap between policy and quality of care can be improved by referral to specialized adult congenital heart disease centers and planning delivery of specialized services that are commensurate with population needs, program accreditation criteria and certified training of designated workforce. Copyright © 2015 Elsevier Inc. All rights reserved.

Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

Science.gov (United States)

Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

2015-07-01

The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described.

Molecular and Genetic Studies of Congenital Myopathies

Science.gov (United States)

2018-03-21

Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

Profiles in congenital heart disease

International Nuclear Information System (INIS)

Freed, M.D.; Keane, J.F.

1986-01-01

Pediatric cardiology has made great strides in the diagnosis, management, and correction of complex congenital malformations in the past two decades. The foundation of these advances is a more precise understanding of the physiology and anatomy of complex lesions that has been obtained from cardiac catheterization and angiography. The techniques for catheterization of infants and children have been discussed in another paper. This chapter focuses on brief profiles of some of the more important congenital abnormalities. The incidence cited in the discussion of each abnormality pertains to a population comprises of children and adults referred to The Children's Hospital Medical Center and Peter Bent Brigham Hospital, respectively, for evaluation of congenital heart disease

Major congenital anomalies in a Danish region

DEFF Research Database (Denmark)

Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie

2014-01-01

INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995...... mortality decreased significantly over time for cases with major congenital anomalies (p congenital anomaly cases, 8% had a registration of one of these chronic maternal diseases......: diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant...

Lethal interpersonal violence in the Middle Pleistocene.

Directory of Open Access Journals (Sweden)

Nohemi Sala

Full Text Available Evidence of interpersonal violence has been documented previously in Pleistocene members of the genus Homo, but only very rarely has this been posited as the possible manner of death. Here we report the earliest evidence of lethal interpersonal violence in the hominin fossil record. Cranium 17 recovered from the Sima de los Huesos Middle Pleistocene site shows two clear perimortem depression fractures on the frontal bone, interpreted as being produced by two episodes of localized blunt force trauma. The type of injuries, their location, the strong similarity of the fractures in shape and size, and the different orientations and implied trajectories of the two fractures suggest they were produced with the same object in face-to-face interpersonal conflict. Given that either of the two traumatic events was likely lethal, the presence of multiple blows implies an intention to kill. This finding shows that the lethal interpersonal violence is an ancient human behavior and has important implications for the accumulation of bodies at the site, supporting an anthropic origin.

Lethal interpersonal violence in the Middle Pleistocene.

Science.gov (United States)

Sala, Nohemi; Arsuaga, Juan Luis; Pantoja-Pérez, Ana; Pablos, Adrián; Martínez, Ignacio; Quam, Rolf M; Gómez-Olivencia, Asier; Bermúdez de Castro, José María; Carbonell, Eudald

2015-01-01

Evidence of interpersonal violence has been documented previously in Pleistocene members of the genus Homo, but only very rarely has this been posited as the possible manner of death. Here we report the earliest evidence of lethal interpersonal violence in the hominin fossil record. Cranium 17 recovered from the Sima de los Huesos Middle Pleistocene site shows two clear perimortem depression fractures on the frontal bone, interpreted as being produced by two episodes of localized blunt force trauma. The type of injuries, their location, the strong similarity of the fractures in shape and size, and the different orientations and implied trajectories of the two fractures suggest they were produced with the same object in face-to-face interpersonal conflict. Given that either of the two traumatic events was likely lethal, the presence of multiple blows implies an intention to kill. This finding shows that the lethal interpersonal violence is an ancient human behavior and has important implications for the accumulation of bodies at the site, supporting an anthropic origin.

Congenital Heart Disease: Vascular Risk Factors and Medication

NARCIS (Netherlands)

H.P.M. Smedts (Dineke)

2011-01-01

textabstractCongenital heart disease (CHD) is among the most common congenital abnormalities and involves structural anomalies of the heart and/or related major blood vessels. Congenital heart disease arises in the fi rst trimester of pregnancy, occurring often and in many forms. The reported CHD

Genetics Home Reference: Fukuyama congenital muscular dystrophy

Science.gov (United States)

... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...

[Sex differences in congenital heart disease].

Science.gov (United States)

Aubry, P; Demian, H

2016-12-01

Gender influences the clinical presentation and the management of some acquired cardiovascular diseases, such as coronary artery disease, resulting in different outcomes. Differences between women and men are also noticed in congenital heart disease. They are mainly related to the prevalence and severity of some congenital heart defects at birth, and in adulthood to the prognosis, incidence of Eisenmenger syndrome and risks of pregnancy. The role of gender on the risk of operative mortality of congenital heart surgery remains debated. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Congenital anomalies of the neonatal head

International Nuclear Information System (INIS)

Benson, C.B.; Teele, R.L.; Dobkin, G.R.; Fine, C.; Bundy, A.L.; Doubilet, P.M.

1987-01-01

US is a noninvasive modality that has proved highly valuable in the assessment of congenital intracranial anomalies in the neonate. The patterns of malformation must be familiar to those who obtain and interpret neonatal cranial sonograms. The authors present a variety of cases of congenital anomalies studied with US, including agenesis of the corpus callosum, Dandy-Walker malformation, occipital enecphalocele, congenital hydrocephalus, vein of Galen aneurysm, hydranencephaly, holoprosencephaly, absence of the septum pellucidum, schizencephaly, and hypoplastic cerebellum. Correlation with other radiographic modalities and pathologic follow-up, available in a majority of cases, is included

Symptoms of Autism among Children with Congenital Deafblindness

Science.gov (United States)

Dammeyer, Jesper

2014-01-01

Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness.…

Cyanotic congenital heart disease and atherosclerosis

DEFF Research Database (Denmark)

Tarp, Julie Bjerre; Jensen, Annette Schophuus; Engstrøm, Thomas

2017-01-01

Improved treatment options in paediatric cardiology and congenital heart surgery have resulted in an ageing population of patients with cyanotic congenital heart disease (CCHD). The risk of acquired heart disease such as atherosclerosis increases with age.Previous studies have speculated whether...

Sequential segmental classification of feline congenital heart disease.

Science.gov (United States)

Scansen, Brian A; Schneider, Matthias; Bonagura, John D

2015-12-01

Feline congenital heart disease is less commonly encountered in veterinary medicine than acquired feline heart diseases such as cardiomyopathy. Understanding the wide spectrum of congenital cardiovascular disease demands a familiarity with a variety of lesions, occurring both in isolation and in combination, along with an appreciation of complex nomenclature and variable classification schemes. This review begins with an overview of congenital heart disease in the cat, including proposed etiologies and prevalence, examination approaches, and principles of therapy. Specific congenital defects are presented and organized by a sequential segmental classification with respect to their morphologic lesions. Highlights of diagnosis, treatment options, and prognosis are offered. It is hoped that this review will provide a framework for approaching congenital heart disease in the cat, and more broadly in other animal species based on the sequential segmental approach, which represents an adaptation of the common methodology used in children and adults with congenital heart disease. Copyright © 2015 Elsevier B.V. All rights reserved.

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

Science.gov (United States)

Marcadier, Julien L; Mears, Alan J; Woods, Elizabeth A; Fisher, Jamie; Airheart, Cory; Qin, Wen; Beaulieu, Chandree L; Dyment, David A; Innes, A Micheil; Curry, Cynthia J

2016-01-01

PDAC (also termed Matthew Wood) syndrome is a rare, autosomal recessive disorder characterized by pulmonary hypoplasia/aplasia, diaphragmatic defects, bilateral anophthalmia, and cardiac malformations. The disorder is caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. We describe six cases from four families of Hmong ancestry, seen over a 30 years period in California. These include: (i) consanguineous siblings with a combination of bilateral anophthalmia, diaphragmatic abnormalities, truncus arteriosus, and/or pulmonary agenesis/hypoplasia; (ii) a singleton fetus with bilateral anophthalmia, pulmonary agenesis, cardiac malformation, and renal hypoplasia; (iii) a sibling pair with a combination of antenatal contractures, camptodactyly, fused palpebral fissures, pulmonary agenesis, and/or truncus arteriosus; (iv) a fetus with bilateral anophthalmia, bushy eyebrows, pulmonary agenesis, heart malformation, and abnormal hand positioning. The phenotypic spectrum of PDAC syndrome has until now not included contractures or camptodactyly. Sequencing of STRA6 in unrelated members of families three and four identified a novel, shared homozygous splice site alteration (c.113 + 3_4delAA) that is predicted to be pathogenic. We hypothesize this may represent a unique disease allele in the Hmong. We also provide a focused review of all published PDAC syndrome cases with confirmed or inferred STRA6 mutations, illustrating the phenotypic and molecular variability that characterizes this disorder. © 2015 Wiley Periodicals, Inc.

Congenital asymmetric crying face: a case report

Directory of Open Access Journals (Sweden)

Semra Kara

2011-12-01

Full Text Available Congenital asymmetric crying face is an anomalia caused by unilateral absence or weakness of depressor anguli oris muscle The major finding of the disease is the absence or weakness in the outer and lower movement of the commissure during crying. The other expression muscles are normal and the face is symmetric at rest. The asymmetry in congenital asymmetric crying face is most evident during infancy but decreases by age. Congenital asymmetric crying face can be associated with cervicofacial, musclebone, respiratory, genitourinary and central nervous system anomalia. It is diagnosed by physical examination. This paper presents a six days old infant with Congenital asymmetric crying face and discusses the case in terms of diagnosis and disease features.

Transporting Patients with Lethal Contagious Infections

National Research Council Canada - National Science Library

Swartz, Colleen

2002-01-01

.... The AIT is a unique military medical team capable of worldwide air evacuation and management of a limited number of patients who are potentially exposed to known and unknown lethal communicable...

Congenital Syphilis Masquerading as Leukemia

OpenAIRE

Lee, Tiffany; Bell, Stephanie; Scimeme, Jason; Maraqa, Nizar

2017-01-01

As of late, the incidence of congenital syphilis in the United States is increasing. Each new case represents a failure of preventing, diagnosing, and treating syphilis in pregnant women. Pediatricians should confirm that all women have received adequate screening for and management of syphilis during pregnancy. Congenital syphilis is easily treatable but may be a diagnostic challenge with high morbidity and mortality.

Concomitant Contracture of the Knee and Ankle Joint After Gastrocnemius Muscle Rupture: A Case Report.

Science.gov (United States)

Ryu, Dong Jin; Kim, Joon Mee; Kim, Bom Soo

Injury of the medial head of the gastrocnemius, also called "tennis leg," is known to heal uneventfully in most cases with compression and immobilization therapy. Failure to heal or long-term complications, including ongoing pain and pes equinus, have been documented in only a limited number of case reports. To the best of our knowledge, a severe concomitant contracture of the knee and ankle joint as a consequence of a maltreated gastrocnemius muscle rupture has not been previously reported in English-language reports. The purpose of the present study was to report a serious complication of neglected tennis leg with a review of the published data. Copyright © 2016 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

A bacterial cocaine esterase protects against cocaine-induced epileptogenic activity and lethality.

Science.gov (United States)

Jutkiewicz, Emily M; Baladi, Michelle G; Cooper, Ziva D; Narasimhan, Diwahar; Sunahara, Roger K; Woods, James H

2009-09-01

Cocaine toxicity results in cardiovascular complications, seizures, and death and accounts for approximately 20% of drug-related emergency department visits every year. Presently, there are no treatments to eliminate the toxic effects of cocaine. The present study hypothesizes that a bacterial cocaine esterase with high catalytic efficiency would provide rapid and robust protection from cocaine-induced convulsions, epileptogenic activity, and lethality. Cocaine-induced paroxysmal activity and convulsions were evaluated in rats surgically implanted with radiotelemetry devices (N=6 per treatment group). Cocaine esterase was administered 1 minute after a lethal dose of cocaine or after cocaine-induced convulsions to determine the ability of the enzyme to prevent or reverse, respectively, the effects of cocaine. The cocaine esterase prevented all cocaine-induced electroencephalographic changes and lethality. This effect was specific for cocaine because the esterase did not prevent convulsions and death induced by a cocaine analog, (-)-2beta-carbomethoxy-3beta-phenyltropane. The esterase prevented lethality even after cocaine-induced convulsions occurred. In contrast, the short-acting benzodiazepine, midazolam, prevented cocaine-induced convulsions but not the lethal effects of cocaine. The data showed that cocaine esterase successfully degraded circulating cocaine to prevent lethality and that cocaine-induced convulsions alone are not responsible for the lethal effects of cocaine in this model. Therefore, further investigation into the use of cocaine esterase for treating cocaine overdose and its toxic effects is warranted.

Angle closure glaucoma in congenital ectropion uvea

Directory of Open Access Journals (Sweden)

Grace M. Wang

2018-06-01

Full Text Available Purpose: Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Observations: Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months and required additional surgery (cycloablation or trabeculectomy. Conclusions and importance: Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control. Keywords: Congenital ectropion uvea, Juvenile glaucoma, Angle-closure glaucoma, Glaucoma drainage device

Dominant-lethal mutations and heritable translocations in mice

Energy Technology Data Exchange (ETDEWEB)

Generoso, W.M.

1983-01-01

Chromosome aberrations are a major component of radiation or chemically induced genetic damage in mammalian germ cells. The types of aberration produced are dependent upon the mutagen used and the germ-cell stage treated. For example, in male meiotic and postmeiotic germ cells certain alkylating chemicals induce both dominant-lethal mutations and heritable translocations while others induce primarily dominant-lethal mutations. Production of these two endpoints appears to be determined by the stability of alkylation products with the chromosomes. If the reaction products are intact in the male chromosomes at the time of sperm entry, they may be repaired in fertilized eggs. If repair is not effected and the alkylation products persist to the time of pronuclear chromosome replication, they lead to chromatid-type aberrations and eventually to dominant-lethality. The production of heritable translocations, on the other hand, requires a transformation of unstable alkylation products into suitable intermediate lesions. The process by which these lesions are converted into chromosome exchange within the male genome takes place after sperm enters the egg but prior to the time of pronuclear chromosome replication (i.e., chromosome-type). Thus, dominant-lethal mutations result from both chromatid- and chromosome-type aberrations while heritable translocations result primarily from the latter type. DNA target sites associated with the production of these two endpoints are discussed.

Dominant-lethal mutations and heritable translocations in mice

International Nuclear Information System (INIS)

Generoso, W.M.

1983-01-01

Chromosome aberrations are a major component of radiation or chemically induced genetic damage in mammalian germ cells. The types of aberration produced are dependent upon the mutagen used and the germ-cell stage treated. For example, in male meiotic and postmeiotic germ cells certain alkylating chemicals induce both dominant-lethal mutations and heritable translocations while others induce primarily dominant-lethal mutations. Production of these two endpoints appears to be determined by the stability of alkylation products with the chromosomes. If the reaction products are intact in the male chromosomes at the time of sperm entry, they may be repaired in fertilized eggs. If repair is not effected and the alkylation products persist to the time of pronuclear chromosome replication, they lead to chromatid-type aberrations and eventually to dominant-lethality. The production of heritable translocations, on the other hand, requires a transformation of unstable alkylation products into suitable intermediate lesions. The process by which these lesions are converted into chromosome exchange within the male genome takes place after sperm enters the egg but prior to the time of pronuclear chromosome replication (i.e., chromosome-type). Thus, dominant-lethal mutations result from both chromatid- and chromosome-type aberrations while heritable translocations result primarily from the latter type. DNA target sites associated with the production of these two endpoints are discussed

A lethal ovitrap-based mass trapping scheme for dengue control in Australia: I. Public acceptability and performance of lethal ovitraps.

Science.gov (United States)

Ritchie, S A; Rapley, L P; Williams, C; Johnson, P H; Larkman, M; Silcock, R M; Long, S A; Russell, R C

2009-12-01

We report on the first field evaluation of the public acceptability and performance of two types of lethal ovitrap (LO) in three separate trials in Cairns, Australia. Health workers were able to set standard lethal ovitraps (SLOs) in 75 and 71% of premise yards in the wet and dry season, respectively, and biodegradable lethal ovitraps (BLOs) in 93% of yards. Public acceptance, measured as retention of traps by residents, was high for both trap types, with porous (grass, soil and mulch) versus solid (tiles, concrete, wood and stone) substrates. The SLOs and the BLOs were readily acceptable to ovipositing Aedes aegypti L. (Diptera: Culicidae); the mean number of eggs/trap was 6 and 15, for the dry season and wet season SLO trial, respectively, and 15 for the BLO wet season trial. Indeed, 84-94% of premise yards had egg positive SLOs or BLOs. A high percentage of both wet and dry season SLOs (29 and 70%, respectively) and BLOs (62%) that were dry after 4 weeks were egg positive, indicating the traps had functioned. Lethal strips from SLOs and BLOs that had been exposed for 4 weeks killed 83 and 74%, respectively, of gravid Ae. aegypti in laboratory assays. These results indicate that mass trapping schemes using SLOs and BLOs are not rejected by the public and effectively target gravid Ae. aegypti. The impact of the interventions on mosquito populations is described in a companion paper.

Heart transplantation in adults with congenital heart disease.

Science.gov (United States)

Houyel, Lucile; To-Dumortier, Ngoc-Tram; Lepers, Yannick; Petit, Jérôme; Roussin, Régine; Ly, Mohamed; Lebret, Emmanuel; Fadel, Elie; Hörer, Jürgen; Hascoët, Sébastien

2017-05-01

With the advances in congenital cardiac surgery and postoperative care, an increasing number of children with complex congenital heart disease now reach adulthood. There are already more adults than children living with a congenital heart defect, including patients with complex congenital heart defects. Among these adults with congenital heart disease, a significant number will develop ventricular dysfunction over time. Heart failure accounts for 26-42% of deaths in adults with congenital heart defects. Heart transplantation, or heart-lung transplantation in Eisenmenger syndrome, then becomes the ultimate therapeutic possibility for these patients. This population is deemed to be at high risk of mortality after heart transplantation, although their long-term survival is similar to that of patients transplanted for other reasons. Indeed, heart transplantation in adults with congenital heart disease is often challenging, because of several potential problems: complex cardiac and vascular anatomy, multiple previous palliative and corrective surgeries, and effects on other organs (kidney, liver, lungs) of long-standing cardiac dysfunction or cyanosis, with frequent elevation of pulmonary vascular resistance. In this review, we focus on the specific problems relating to heart and heart-lung transplantation in this population, revisit the indications/contraindications, and update the long-term outcomes. Copyright © 2017. Published by Elsevier Masson SAS.

Lethal mechanisms in gastric volvulus.

Science.gov (United States)

Omond, Kimberley J; Byard, Roger W

2017-01-01

A 55-year-old wheelchair-bound woman with severe cerebral palsy was found at autopsy to have marked distention of the stomach due to a volvulus. The stomach was viable, and filled with air and fluid and had pushed the left dome of the diaphragm upwards causing marked compression of the left lung with a mediastinal shift to the right (including the heart). There was no evidence of gastric perforation, ischaemic necrosis or peritonitis. Removal of the organ block revealed marked kyphoscoliosis. Histology confirmed the viability of the stomach and biochemistry showed no dehydration. Death in cases of acute gastric volvulus usually occurs because of compromise of the gastric blood supply resulting in ischaemic necrosis with distention from swallowed air and fluid resulting in perforation with lethal peritonitis. Hypovolaemic shock may also occur. However, the current case demonstrates an alternative lethal mechanism, that of respiratory compromise due to marked thoracic organ compression.

[Genetics of congenital heart diseases].

Science.gov (United States)

Bonnet, Damien

2017-06-01

Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Congenital scoliosis: an up-to-date

Science.gov (United States)

Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, RA; Dughilă, C; Japie, EM; Onilă, A

2015-01-01

Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon PMID:26351546

Familial aggregation of congenital hydrocephalus in a nationwide cohort

DEFF Research Database (Denmark)

Munch, Tina Nørgaard; Rostgaard, Klaus; Rasmussen, Marie-Louise Hee

2012-01-01

The objective of the study was to investigate familial aggregation of primary congenital hydrocephalus in an unselected, nationwide population. Based on the Danish Central Person Register, we identified all children born in Denmark between 1978 and 2008 and their family members (up to third......-degree relatives). Information on primary congenital hydrocephalus was obtained from the National Patient Discharge Register. Using binomial log-linear regression, we estimated recurrence risk ratios of congenital hydrocephalus. An alternative log-linear regression model was applied to quantify the genetic effect...... and the maternal effect. Of 1 928 683 live-born children, 2194 had a diagnosis of idiopathic congenital hydrocephalus (1.1/1000). Of those, 75 (3.4%) had at least one other family member with primary congenital hydrocephalus. Significantly increased recurrence risk ratios of primary congenital hydrocephalus were...

Congenital anomalies in Primorsky region.

Science.gov (United States)

Kiku, P; Voronin, S; Golokhvast, K

2015-01-01

According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

The lethal injection quandary: how medicine has dismantled the death penalty.

Science.gov (United States)

Denno, Deborah W

2007-10-01

On February 20, 2006, Michael Morales was hours away from execution in California when two anesthesiologists declined to participate in his lethal injection procedure, thereby halting all state executions. The events brought to the surface the long-running schism between law and medicine, raising the question of whether any beneficial connection between the professions ever existed in the execution context. History shows it seldom did. Decades of botched executions prove it. This Article examines how states ended up with such constitutionally vulnerable lethal injection procedures, suggesting that physician participation in executions, though looked upon with disdain, is more prevalent--and perhaps more necessary--than many would like to believe. The Article also reports the results of this author's unique nationwide study of lethal injection protocols and medical participation. The study demonstrates that states have continued to produce grossly inadequate protocols that severely restrict sufficient understanding of how executions are performed and heighten the likelihood of unconstitutionality. The analysis emphasizes in particular the utter lack of medical or scientific testing of lethal injection despite the early and continuous involvement of doctors but ongoing detachment of medical societies. Lastly, the Article discusses the legal developments that led up to the current rush of lethal injection lawsuits as well as the strong and rapid reverberations that followed, particularly with respect to medical involvement. This Article concludes with two recommendations. First, much like what occurred in this country when the first state switched to electrocution, there should be a nationwide study of proper lethal injection protocols. An independent commission consisting of a diverse group of qualified individuals, including medical personnel, should conduct a thorough assessment of lethal injection, especially the extent of physician participation. Second, this

Empirical complexities in the genetic foundations of lethal mutagenesis.

Science.gov (United States)

Bull, James J; Joyce, Paul; Gladstone, Eric; Molineux, Ian J

2013-10-01

From population genetics theory, elevating the mutation rate of a large population should progressively reduce average fitness. If the fitness decline is large enough, the population will go extinct in a process known as lethal mutagenesis. Lethal mutagenesis has been endorsed in the virology literature as a promising approach to viral treatment, and several in vitro studies have forced viral extinction with high doses of mutagenic drugs. Yet only one empirical study has tested the genetic models underlying lethal mutagenesis, and the theory failed on even a qualitative level. Here we provide a new level of analysis of lethal mutagenesis by developing and evaluating models specifically tailored to empirical systems that may be used to test the theory. We first quantify a bias in the estimation of a critical parameter and consider whether that bias underlies the previously observed lack of concordance between theory and experiment. We then consider a seemingly ideal protocol that avoids this bias-mutagenesis of virions-but find that it is hampered by other problems. Finally, results that reveal difficulties in the mere interpretation of mutations assayed from double-strand genomes are derived. Our analyses expose unanticipated complexities in testing the theory. Nevertheless, the previous failure of the theory to predict experimental outcomes appears to reside in evolutionary mechanisms neglected by the theory (e.g., beneficial mutations) rather than from a mismatch between the empirical setup and model assumptions. This interpretation raises the specter that naive attempts at lethal mutagenesis may augment adaptation rather than retard it.

Calcium-Sensing Receptor Tumor Expression and Lethal Prostate Cancer Progression.

Science.gov (United States)

Ahearn, Thomas U; Tchrakian, Nairi; Wilson, Kathryn M; Lis, Rosina; Nuttall, Elizabeth; Sesso, Howard D; Loda, Massimo; Giovannucci, Edward; Mucci, Lorelei A; Finn, Stephen; Shui, Irene M

2016-06-01

Prostate cancer metastases preferentially target bone, and the calcium-sensing receptor (CaSR) may play a role in promoting this metastatic progression. We evaluated the association of prostate tumor CaSR expression with lethal prostate cancer. A validated CaSR immunohistochemistry assay was performed on tumor tissue microarrays. Vitamin D receptor (VDR) expression and phosphatase and tensin homolog tumor status were previously assessed in a subset of cases by immunohistochemistry. Cox proportional hazards models adjusting for age and body mass index at diagnosis, Gleason grade, and pathological tumor node metastasis stage were used to estimate hazard ratios (HR) and 95% confidence intervals (CI) for the association of CaSR expression with lethal prostate cancer. The investigation was conducted in the Health Professionals Follow-up Study and Physicians' Health Study. We studied 1241 incident prostate cancer cases diagnosed between 1983 and 2009. Participants were followed up or cancer-specific mortality or development of metastatic disease. On average, men were followed up 13.6 years, during which there were 83 lethal events. High CaSR expression was associated with lethal prostate cancer independent of clinical and pathological variables (HR 2.0; 95% CI 1.2-3.3). Additionally, there was evidence of effect modification by VDR expression; CaSR was associated with lethal progression among men with low tumor VDR expression (HR 3.2; 95% CI 1.4-7.3) but not in cases with high tumor VDR expression (HR 0.8; 95% CI 0.2-3.0). Tumor CaSR expression is associated with an increased risk of lethal prostate cancer, particularly in tumors with low VDR expression. These results support further investigating the mechanism linking CaSR with metastases.

Prognostic factors of congenital diaphragmatic hernia accompanied by cardiovascular malformation.

Science.gov (United States)

Takahashi, Shigehiro; Sago, Haruhiko; Kanamori, Yutaka; Hayakawa, Masahiro; Okuyama, Hiroomi; Inamura, Noboru; Fujino, Yuji; Usui, Noriaki; Taguchi, Tomoaki

2013-08-01

Congenital diaphragmatic hernia is associated with cardiovascular malformation. Many prognostic factors have been identified for isolated congenital diaphragmatic hernia; however, reports of concurrent congenital diaphragmatic hernia and cardiovascular malformation in infants are limited. This study evaluated congenital diaphragmatic hernia associated with cardiovascular malformation in infants. Factors associated with prognosis for patients were also identified. This retrospective cohort study was based on a Japanese survey of congenital diaphragmatic hernia patients between 2006 and 2010. Frequency and outcome of cardiovascular malformation among infants with congenital diaphragmatic hernia were examined. Severity of congenital diaphragmatic hernia and cardiovascular malformation were compared as predictors of mortality and morbidity. Cardiovascular malformation was identified in 76 (12.3%) of 614 infants with congenital diaphragmatic hernia. Mild cardiovascular malformation was detected in 19 (33.9%) and severe cardiovascular malformation in 37 (66.1%). Their overall survival rate at discharge was 46.4%, and the survival rate without morbidity was 23.2%. Mortality and morbidity at discharge were more strongly associated with severity of cardiovascular malformation (adjusted OR 7.69, 95%CI 1.96-30.27; adjusted OR 7.93, 95%CI 1.76-35.79, respectively) than with severity of congenital diaphragmatic hernia. The prognosis for infants with both congenital diaphragmatic hernia and cardiovascular malformation remains poor. Severity of cardiovascular malformation is a more important predictive factor for mortality and morbidity than severity of congenital diaphragmatic hernia. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

What's New in Congenital Scoliosis?

Science.gov (United States)

Pahys, Joshua M; Guille, James T

2018-03-01

Congenital scoliosis is a failure of vertebral formation, segmentation, or a combination of the 2 arising from abnormal vertebral development during weeks 4 to 6 of gestation. The associated spinal deformity can be of varying severity and result in a stable or progressive deformity based on the type and location of the anomalous vertebra(e). Bracing for congenital scoliosis is rarely indicated, while recent reports have demonstrated the utility of serial derotational casting for longer curves with multiple anomalous vertebrae as an effective "time buying strategy" to delay the need for surgery. Earlier hemivertebra excision and short-segment posterior spinal fusion have been advocated to prevent future curve progression of the deformity and/or the development of large compensatory curves. It has been shown in recent long-term follow-up studies that growth rates of the vertebral body and spinal canal are not as dramatically affected by pedicle screw instrumentation at a young age as once thought. Growth friendly surgery with either spine-based or rib-based anchors has demonstrated good results with curve correction while maintaining spinal growth. Rib-based anchors are typically more commonly indicated in the setting of chest wall abnormalities and/or when spinal anatomy precludes placement of spinal instrumentation. Recently, magnetically controlled growing rods have shown promising results in several studies that include a small subset of congenital scoliosis cases. A literature search was performed to identify existing studies related to the treatment of congenital scoliosis published from January 1, 2005 to June 1, 2016. Databases included PubMed, Medline, and the Cochrane Library. The search was limited to English articles and yielded 36 papers. This project was initiated by the Pediatric Orthopaedic Society of North America Publications Committee and was reviewed and approved by the Pediatric Orthopaedic Society of North America Presidential Line. A total of

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

NARCIS (Netherlands)

Navarro, Claire L.; de Sandre-Giovannoli, Annachiara; Bernard, Rafaëlle; Boccaccio, Irène; Boyer, Amandine; Geneviève, David; Hadj-Rabia, Smail; Gaudy-Marqueste, Caroline; Sillevis Smitt, Henk; Vabres, Pierre; Faivre, Laurence; Verloes, Alain; van Essen, Ton; Flori, Elisabeth; Hennekam, Raoul; Beemer, Frits A.; Laurent, Nicole; Le Merrer, Martine; Cau, Pierre; Lévy, Nicolas

2004-01-01

Restrictive dermopathy (RD), also called tight skin contracture syndrome (OMIM 275210), is a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small

Effect of lethality on the extinction and on the error threshold of quasispecies.

Science.gov (United States)

Tejero, Hector; Marín, Arturo; Montero, Francisco

2010-02-21

In this paper the effect of lethality on error threshold and extinction has been studied in a population of error-prone self-replicating molecules. For given lethality and a simple fitness landscape, three dynamic regimes can be obtained: quasispecies, error catastrophe, and extinction. Using a simple model in which molecules are classified as master, lethal and non-lethal mutants, it is possible to obtain the mutation rates of the transitions between the three regimes analytically. The numerical resolution of the extended model, in which molecules are classified depending on their Hamming distance to the master sequence, confirms the results obtained in the simple model and shows how an error catastrophe regime changes when lethality is taken in account. (c) 2009 Elsevier Ltd. All rights reserved.

Cerebral palsy and congenital malformations

DEFF Research Database (Denmark)

Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge

2007-01-01

AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

Congenital costo-vertebral fibrous band and congenital kyphoscoliosis: a previously unreported combination.

Science.gov (United States)

Eid, Tony; Ghostine, Bachir; Kreichaty, Gaby; Daher, Paul; Ghanem, Ismat

2013-05-01

Congenital kyphoscoliosis (CKS) results from abnormal vertebral chondrification. Congenital fibrous bands occur in several locations with variable impact on vertebral development. We report a previously unreported case of a female infant with CKS presenting with an L2 hypoplastic vertebra and a costo-vertebral fibrous band extending to the skin in the form of a dimple. We also describe the therapeutic approach, consisting of surgical excision of the fibrous band and postoperative fulltime bracing, with a 7-year follow-up. We recommend a high index of suspicion in any unusual presentation of CKS and insist on case by case management in such cases.

Congenital segmental dilatation of the colon

African Journals Online (AJOL)

Congenital segmental dilatation of the colon is a rare cause of intestinal obstruction in neonates. We report a case of congenital segmental dilatation of the colon and highlight the clinical, radiological, and histopathological features of this entity. Proper surgical treatment was initiated on the basis of preoperative radiological ...

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

DEFF Research Database (Denmark)

Garne, Ester; Loane, Maria; Dolk, Helen

2012-01-01

Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies....

A multivariate model of stakeholder preference for lethal cat management.

Science.gov (United States)

Wald, Dara M; Jacobson, Susan K

2014-01-01

Identifying stakeholder beliefs and attitudes is critical for resolving management conflicts. Debate over outdoor cat management is often described as a conflict between two groups, environmental advocates and animal welfare advocates, but little is known about the variables predicting differences among these critical stakeholder groups. We administered a mail survey to randomly selected stakeholders representing both of these groups (n=1,596) in Florida, where contention over the management of outdoor cats has been widespread. We used a structural equation model to evaluate stakeholder intention to support non-lethal management. The cognitive hierarchy model predicted that values influenced beliefs, which predicted general and specific attitudes, which in turn, influenced behavioral intentions. We posited that specific attitudes would mediate the effect of general attitudes, beliefs, and values on management support. Model fit statistics suggested that the final model fit the data well (CFI=0.94, RMSEA=0.062). The final model explained 74% of the variance in management support, and positive attitudes toward lethal management (humaneness) had the largest direct effect on management support. Specific attitudes toward lethal management and general attitudes toward outdoor cats mediated the relationship between positive (pstakeholder intention to support non-lethal cat management. Our findings suggest that stakeholders can simultaneously perceive both positive and negative beliefs about outdoor cats, which influence attitudes toward and support for non-lethal management.

Acute and sub-lethal response to mercury in Arctic and boreal calanoid copepods.

Science.gov (United States)

Overjordet, Ida Beathe; Altin, Dag; Berg, Torunn; Jenssen, Bjørn Munro; Gabrielsen, Geir Wing; Hansen, Bjørn Henrik

2014-10-01

Acute lethal toxicity, expressed as LC50 values, is a widely used parameter in risk assessment of chemicals, and has been proposed as a tool to assess differences in species sensitivities to chemicals between climatic regions. Arctic Calanus glacialis and boreal Calanus finmarchicus were exposed to mercury (Hg(2+)) under natural environmental conditions including sea temperatures of 2° and 10°C, respectively. Acute lethal toxicity (96 h LC50) and sub-lethal molecular response (GST expression; in this article gene expression is used as a synonym of gene transcription, although it is acknowledged that gene expression is also regulated, e.g., at translation and protein stability level) were studied. The acute lethal toxicity was monitored for 96 h using seven different Hg concentrations. The sub-lethal experiment was set up on the basis of nominal LC50 values for each species using concentrations equivalent to 50, 5 and 0.5% of their 96 h LC50 value. No significant differences were found in acute lethal toxicity between the two species. The sub-lethal molecular response revealed large differences both in response time and the fold induction of GST, where the Arctic species responded both faster and with higher mRNA levels of GST after 48 h exposure. Under the natural exposure conditions applied in the present study, the Arctic species C. glacialis may potentially be more susceptible to mercury exposure on the sub-lethal level. Copyright © 2014 Elsevier B.V. All rights reserved.

Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

NARCIS (Netherlands)

Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Krapels, P. C.; de Die-Smulders, C. E. M.; van Lint, F. H. M.; Willekes, C.; Weber, J. W.; Gavilanes, A. W. D.; Macville, M. V. E.; Stegmann, A. P. A.; Engelen, J. J. M.; Bakker, J.; Vos, Y. J.; Frints, S. G. M.

2011-01-01

Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

NARCIS (Netherlands)

Garne, Ester; Loane, Maria; Dolk, Helen; Barisic, Ingeborg; Addor, Marie-Claude; Arriola, Larraitz; Bakker, Marian; Calzolari, Elisa; Dias, Carlos Matias; Doray, Berenice; Gatt, Miriam; Melve, Kari Klyungsoyr; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Randrianaivo-Ranjatoelina, Hanitra; Rankin, Judith; Rissmann, Anke; Tucker, David; Verellun-Dumoulin, Christine; Wiesel, Awi

BACKGROUND Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies.

Congenital tumors of the central nervous system

International Nuclear Information System (INIS)

Severino, Mariasavina; Schwartz, Erin S.; Thurnher, Majda M.; Rydland, Jana; Nikas, Ioannis; Rossi, Andrea

2010-01-01

Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease

Suicide Intent and Accurate Expectations of Lethality: Predictors of Medical Lethality of Suicide Attempts

Science.gov (United States)

Brown, Gregory K.; Henriques, Gregg R.; Sosdjan, Daniella; Beck, Aaron T.

2004-01-01

The degree of intent to commit suicide and the severity of self-injury were examined in individuals (N = 180) who had recently attempted suicide. Although a minimal association was found between the degree of suicide intent and the degree of lethality of the attempt, the accuracy of expectations about the likelihood of dying was found to moderate…

Lethality of patients with rheumatoid arthritis depending on adalimumab administration: imitation modeling

Directory of Open Access Journals (Sweden)

D V Goryachev

2009-01-01

Full Text Available Lethality of pts with rheumatoid arthritis (RA exceeds mortality values in general population. Possibility of disease modifying anti-rheumatic drugs (DMARD influence on RA pts lethality has been widely discussed lately in scientific works. Objective. To determine possible lethality diminishment in Russian population of RA pts with one of biological drugs TNFα antagonist adalimumab. Material and methods. Model construction is based on the fact of lethality dependence on pt functional state assessed by HAQ. Model simulating progression of functional disability in pts with RA visiting medical institutions of Russia was made (RAISER study. 3 model variants for imitation of consecutive change of DMARDs including adalimumab were done. First consecution assessed DMARD change in the next chain: adalimumab-methotrexate-sulfasalazine-leflunomide-azathioprine-cyclosporine-palliative therapy. Second consecution: adalimumab administration after failure of first 3 DMARDs. Third consecution considered only change of synthetic DMARDs without adalimumab inclusion. Model imitated participation of 3000 pts in every consecution. Prognosis horizon was 12 years. Age of pts and initial HAQ distribution were get from results of epidemiological RAISER study. Calculation was done on the base of elevation of standardized lethality level (SLL in population of RA pts in average from 135% to 300%. SLL values from 80 to 320% were used depending on functional disability degree with converting to Russian values of age-specific lethality coefficient for 1999. Results. Lethality in treatment consecutions including adalimumab was significantly lower. To the end of 12th year in group not using adalimumab, using it at once and using it after 376 DMARDs respectively 65,1%, 71,6% and 71,1% of pts were still alive. Conclusion. Significant decrease of lethality with adalimumab inclusion in consecution of DMARD change during treatment of RA pts was demonstrated with imitation modeling

Conflict Without Casualties: Non-Lethal Weapons in Irregular Warfare

Science.gov (United States)

2007-09-01

the body,” and the Geneva Protocol of 1925, bans the use of chemical and biological weapons .11 On 8 April 1975, President Ford issued Executive...E Funding – PE 63851M) (accessed 15 December 2006). The American Journal of Bioethics . “Medical Ethics and Non-Lethal Weapons .” Bioethics.net...CASUALTIES: NON-LETHAL WEAPONS IN IRREGULAR WARFARE by Richard L. Scott September 2007 Thesis Advisor: Robert McNab Second Reader

Japanese family with congenital factor VII deficiency.

Science.gov (United States)

Sakakibara, Kanae; Okayama, Yoshiki; Fukushima, Kenji; Kaji, Shunsaku; Muraoka, Michiko; Arao, Yujiro; Shimada, Akira

2015-10-01

Congenital factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance. The present female patient was diagnosed with congenital FVII deficiency because of low hepaplastin test (HPT), although vitamin K was given. Heterozygous p.A191T mutation was detected in the peripheral blood, and the same mutation was also found in the mother and sister. To the best of our knowledge, this is the fourth reported case of p.A191T mutation of FVII in the literature and the first to be reported in Japan. FVII coagulation activity (FVII:C) in asymptomatic heterozygous carriers is mildly reduced. Therefore, some patients may not be accurately diagnosed with congenital FVII deficiency. In infants with low HPT without vitamin K deficiency, congenital FVII deficiency should be considered. © 2015 Japan Pediatric Society.

Polymicrogyria and Congenital Parvovirus B19 Infection

Directory of Open Access Journals (Sweden)

Grant S. Schulert

2011-12-01

Full Text Available Fetal parvovirus B19 infection causes anemia, hydrops, and pregnancy loss but is generally not considered teratogenic. Nevertheless, disturbances of neuronal migration have been described with congenital parvovirus infection. We evaluated a term infant with congenital parvovirus disease and polymicrogyria. We compared this case with four other reports of central nervous system disease after birth to parvovirus-infected mothers. After an extensive diagnostic evaluation, this infant was found to have congenital parvovirus disease with severe anemia and nonimmune hydrops as well as extensive polymicrogyria. Although rare, this report and literature review suggest that parvovirus B19 has the potential to disrupt normal neurodevelopment. We suggest that infants with severe congenital parvovirus infection have close developmental surveillance and if symptomatic undergo neuroimaging to assess for disorders of neuromigration.

Impact of acute alcohol consumption on lethality of suicide methods.

Science.gov (United States)

Park, C Hyung Keun; Yoo, Seong Ho; Lee, Jaewon; Cho, Sung Joon; Shin, Min-Sup; Kim, Eun Young; Kim, Se Hyun; Ham, Keunsoo; Ahn, Yong Min

2017-05-01

The influence of acute alcohol consumption on the factors related to suicide remains understudied. Thus, the present study investigated the relationship between blood alcohol content (BAC) and the lethality of suicide methods. Autopsy data on 315 South Korean suicide completers with a positive BAC were collected from a nationwide pool between May 2015 and November 2015, and the methods were dichotomised as suicide methods of low lethality (SMLL; drug/chemical overdose and sharp objects, n=67) and suicide methods of high lethality (SMHL; everything else, n=243). BAC at the time of autopsy and various suicide-related factors of these two groups were compared with logistic regression analyses. Compared to suicide completers with a BAC in the lowest range of 0.011-0.049%, suicide completers with a BAC in the range of 0.150-0.199% were more likely to use SMHL (odds ratio [OR]: 3.644, 95% confidence interval [CI]: 1.221-10.874). Additionally, the adoption of SMHL was significantly associated with the absence of a psychiatric illness (OR: 0.433, 95% CI: 0.222-0.843) and a younger age; the OR for high BAC among subjects in their 40s was 0.266 (95% CI: 0.083-0.856); in their 50s, 0.183 (95% CI: 0.055-0.615); and in their 60s, 0.057 (95% CI: 0.015-0.216). The relationship between BAC and suicide method lethality was represented by a bell-shaped pattern in which suicide methods of high lethality were more likely to be used by suicide completers with mid-range BAC levels. The increased impulsivity and impairments in particular executive functions, including planning and organization, associated with acute alcohol use may influence the selection of a particular suicide method based on its lethality. Copyright © 2017 Elsevier Inc. All rights reserved.

Early events of lethal action by tobramycin in Pseudomonas aeruginosa

International Nuclear Information System (INIS)

Raulston, J.E.

1988-01-01

The immediate activities of the aminoglycoside antibiotic, tobramycin, were investigated in Pseudomonas aeruginosa PAO1. The influence of carbon growth substate and the antibiotic exposure environment in the magnitude of activity were examined. Lethality by 8 μg/ml tobramycin occurred rapidly (1 to 3 minutes). The release of specific cellular components into the supernatant was associated with lethality. This material was initially detected as an increase in UV-absorbance. Magnesium in the reaction mixture provided protection against lethality and leakage, but did not reverse lethal damage after a 3 minute tobramycin treatment. Also, uptake of 3 H-tobramycin was reduced in the presence of magnesium. Cells grown with glucose as a carbon source were more susceptible than organic acid grown cells as was the rapidity and amount of cell damage. Analyses of the leakage material revealed a 2-fold increase of protein in the supernatant after a 1-3 minute treatment which paralleled lethality. A prominent 29 kDa protein was observed by SDS-PAGE in the released material, which has been identified as the periplasmic enzyme, β-lactamase. The immediate activities of tobramycin did not involve (i) release of overall cell protein, (ii) massive loss of total pool amino acids, (iii) cell lysis, (iv) inhibition of proline uptake, (v) release of lipopolysaccharide, or (vi) leakage of ATP. Electron microscopy showed no apparent damage after a 3 minute exposure. 40% inhibition of protein synthesis had occurred by 3 minutes of exposure, while release of UV-absorbing material and lethality were detectable after only 1 minute. Resistant cystic fibrosis isolates of P. aeruginosa did not leak under the same experimental conditions, but one of two susceptible strains examined did show increased UV-absorbance following treatment

Increased Prevalence of Renal and Urinary Tract Anomalies in Children with Congenital Hypothyroidism

Science.gov (United States)

Kumar, Juhi; Gordillo, Roberto; Kaskel, Frederick J.; Druschel, Charlotte M.; Woroniecki, Robert P.

2013-01-01

Objective We investigated the prevalence of congenital renal and urologic anomalies in children with congenital hypothyroidism to determine whether further renal and urologic investigations would be of benefit. Study design Prevalence of congenital hypothyroidism was obtained from the New York State Congenital Malformation Registry. The occurrence of urinary tract anomalies were calculated for children with congenital hypothyroidism and compared to children without congenital hypothyroidism. In addition we obtained congenital hypothyroidism data from New York State newborn screening, and the cases were matched to Congenital Malformation Registry. Results Analysis of Congenital Malformation Registry data showed 980 children with congenital hypothyroidism and 3 661 585 children without congenital hypothyroidism born in New York State (1992-2005). Children with congenital hypothyroidism have a significantly increased risk of congenital renal and urological anomalies with the odds ratio (OR) of 13.2 (10.6-16.5). The other significantly increased defects in congenital hypothyroidism were cardiac, gastrointestinal, and skeletal. Analysis of matched data confirmed an increase of congenital renal and urologic anomalies with OR of 4.8 (3.7-6.3). Conclusions Children with congenital hypothyroidism have an increased prevalence of congenital renal and urologic anomalies. We suggest that these children should be evaluated for the presence of congenital renal and urologic anomalies with renal ultrasonography, and that further studies of common genes involved in thyroid and kidney development are warranted. PMID:18823909

Reproductive-phase and interphase lethal cell damage after irradiation and treatment with cytostatics

International Nuclear Information System (INIS)

Hagemann, G.

1979-01-01

After X-ray irradiation of manual cells, two lethal fractions occur due to reproductive and interphase death under low and high radiation doses. The damage kinetics on which this fact is based is compared with hypothetical tumour frequencies and leucemia induction caused in experiments. The reproductive-lethal damage can be manifested by means of colony size spectrometry, with the median colony size class differences (MCD) serving as measure for the damage found. The simultaneous effects of the cytostatics BLEOMYCIN or ICRF 159 and X-rays on reproductive lethal and interphase-lethal damage are measured by means of MCD and survival fraction, and the additive and intensifying effect' is judged with the help of suitably defined terms. This shows that the clinically used ICRF 159 has an additive effect on interphase-lethal and a sub-additive effect on reproductive-lethal cell damage. Thus, favourable results may be expected for the electivity factor in fractionated irradiation and with regard to delayed damage in healthy tissue. (orig.) 891 MG/orig. 892 RDG [de

Extra-cardiac manifestations of adult congenital heart disease.

Science.gov (United States)

Gaeta, Stephen A; Ward, Cary; Krasuski, Richard A

2016-10-01

Advancement in correction or palliation of congenital cardiac lesions has greatly improved the lifespan of congenital heart disease patients, resulting in a rapidly growing adult congenital heart disease (ACHD) population. As this group has increased in number and age, emerging science has highlighted the systemic nature of ACHD. Providers caring for these patients are tasked with long-term management of multiple neurologic, pulmonary, hepatic, renal, and endocrine manifestations that arise as syndromic associations with congenital heart defects or as sequelae of primary structural or hemodynamic abnormalities. In this review, we outline the current understanding and recent research into these extra-cardiac manifestations. Copyright © 2016 Elsevier Inc. All rights reserved.

Newborn screening for congenital hypothyroidism in Henan province, China.

Science.gov (United States)

Zhao, De-Hua; Shen, Yong; Gong, Jiao-Mei; Meng, Yun; Su, Li; Zhang, Xia

2016-01-15

Congenital hypothyroidism is the most common congenital endocrine disorder. The study aimed to determine the congenital hypothyroidism incidence by newborn screening programs in Henan Province, China. The screening programs for congenital hypothyroidism are based on the measurement of TSH in dried blood spots. The TSH concentration was measured in the dry blood spot specimen using a DELFIA fluoroimmunoassay. The TSH cutoff concentration was 8mU/l. The total coverage and the incidence of congenital hypothyroidism were 24.85% (5,142,148/20,694,441) and 0.37‰ (1992/5,142,148), respectively. The coverage and the incidence of CH were only 0.58% (4526/784,580) and 0.22‰ (1/4526) in 1997, respectively. However, the coverage and the incidence of CH were increased to 74.67% (1,203,278/1,611,582) and 0.32‰ (389/1,203,278). There were no significant differences in the number of congenital hypothyroidism between males and females (P>0.05). The number of congenital hypothyroidism was increased year after year. The newborn screening program for CH is successful and quite effective. Copyright © 2015 Elsevier B.V. All rights reserved.

Congenital imprinting disorders

DEFF Research Database (Denmark)

Eggermann, Thomas; Netchine, Irène; Temple, I Karen

2015-01-01

Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

Imaging diagnosis of congenital heart disease with single coronary artery

International Nuclear Information System (INIS)

Zhu Ming; Li Yuhua; Zhong Yumin; Sun Aimin

2003-01-01

Objective: To report 56 cases of congenital heart disease with congenital single coronary artery and to evaluate the imaging diagnostic techniques. Methods: All 56 patients with congenital single coronary artery underwent angiocardiography. Contrast enhancement magnetic resonance angiography (CE MRA) was performed in 4 cases. 48 cases were confirmed by operation. Results: In these 56 cases, single left coronary artery was found in 44 cases and single right coronary artery was found in 12. Conclusion: Congenital heart disease with congenital single coronary artery is not rare and correct diagnosis is very important for surgery

Congenital tumors of the central nervous system

Energy Technology Data Exchange (ETDEWEB)

Severino, Mariasavina [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); Schwartz, Erin S. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Thurnher, Majda M. [Medical University of Vienna, Department of Radiology, Vienna (Austria); Rydland, Jana [MR Center, St. Olav' s Hospital HF, Trondheim (Norway); Nikas, Ioannis [Agia Sophia Children' s Hospital, Imaging Department, Athens (Greece); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); G. Gaslini Children' s Hospital, Department of Pediatric Neuroradiology, Genoa (Italy)

2010-06-15

Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors

CCT and sonographic findings in congenital craniopharyngioma

Energy Technology Data Exchange (ETDEWEB)

Helmke, K.; Hausdorf, G.; Moehrs, D.; Laas, R.

1984-11-01

In a case of congenital craniopharyngioma results of the sonographic and CCT examinations are reported and compared with postmortem macroscopic cuts. Comparison is made of clinical data from six cases with congenital craniopharyngioma as reported in the literature.

Angle closure glaucoma in congenital ectropion uvea.

Science.gov (United States)

Wang, Grace M; Thuente, Daniel; Bohnsack, Brenda L

2018-06-01

Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months) and required additional surgery (cycloablation or trabeculectomy). Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control.

Skin Graft

OpenAIRE

Shimizu, Ruka; Kishi, Kazuo

2012-01-01

Skin graft is one of the most indispensable techniques in plastic surgery and dermatology. Skin grafts are used in a variety of clinical situations, such as traumatic wounds, defects after oncologic resection, burn reconstruction, scar contracture release, congenital skin deficiencies, hair restoration, vitiligo, and nipple-areola reconstruction. Skin grafts are generally avoided in the management of more complex wounds. Conditions with deep spaces and exposed bones normally require the use o...

Renal anomalies in congenital heart disease

International Nuclear Information System (INIS)

Lee, Byung Hee; Kim, In One; Yeon, Kyung Mo; Yoon, Yong Soo

1987-01-01

In general, the incidence of urinary tract anomalies in congenital heart disease is higher than that in general population. So authors performed abdominal cineradiography in 1045 infants and children undergoing cineangiographic examinations for congenital heart disease, as a screening method for the detection, the incidence, and the nature of associated urinary tract anomalies. The results were as follows: 1. The incidence of urinary tract anomaly associated with congenital heart disease was 4.1% (<2% in general population). 2. Incidence of urinary tract anomalies was 4.62% in 671 acyanotic heart diseases, 3.20% in 374 cyanotic heart diseases. 3. There was no constant relationship between the type of cardiac anomaly and the type of urinary tract anomaly

Effective lethal mutagenesis of influenza virus by three nucleoside analogs.

Science.gov (United States)

Pauly, Matthew D; Lauring, Adam S

2015-04-01

Lethal mutagenesis is a broad-spectrum antiviral strategy that exploits the high mutation rate and low mutational tolerance of many RNA viruses. This approach uses mutagenic drugs to increase viral mutation rates and burden viral populations with mutations that reduce the number of infectious progeny. We investigated the effectiveness of lethal mutagenesis as a strategy against influenza virus using three nucleoside analogs, ribavirin, 5-azacytidine, and 5-fluorouracil. All three drugs were active against a panel of seasonal H3N2 and laboratory-adapted H1N1 strains. We found that each drug increased the frequency of mutations in influenza virus populations and decreased the virus' specific infectivity, indicating a mutagenic mode of action. We were able to drive viral populations to extinction by passaging influenza virus in the presence of each drug, indicating that complete lethal mutagenesis of influenza virus populations can be achieved when a sufficient mutational burden is applied. Population-wide resistance to these mutagenic agents did not arise after serial passage of influenza virus populations in sublethal concentrations of drug. Sequencing of these drug-passaged viral populations revealed genome-wide accumulation of mutations at low frequency. The replicative capacity of drug-passaged populations was reduced at higher multiplicities of infection, suggesting the presence of defective interfering particles and a possible barrier to the evolution of resistance. Together, our data suggest that lethal mutagenesis may be a particularly effective therapeutic approach with a high genetic barrier to resistance for influenza virus. Influenza virus is an RNA virus that causes significant morbidity and mortality during annual epidemics. Novel therapies for RNA viruses are needed due to the ease with which these viruses evolve resistance to existing therapeutics. Lethal mutagenesis is a broad-spectrum strategy that exploits the high mutation rate and the low

Congenital maxillary double lip

Directory of Open Access Journals (Sweden)

Dinesh Singh Chauhan

2012-01-01

Full Text Available Double lip, also referred to as "macrocheilia," is a rare anomaly which affects the upper lip more commonly than the lower lip. It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip. The congenital double lip is believed to be present at birth and becomes more prominent after eruption of teeth. It affects esthetics and also interferes with speech and mastication. Simple surgical excision produces good functional and cosmetic results. We report a case of a non-syndromic congenital maxillary double lip in a 21-year-old male patient.

Epidemiology of congenital diaphragmatic hernia in Europe

DEFF Research Database (Denmark)

McGivern, Mark R.; Best, Kate E.; Rankin, Judith

2015-01-01

INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT). METHODS: Cases of CDH...... for isolated cases (ie, CDH cases that did not occur with any other congenital anomaly). There was significant variation in total and isolated CDH prevalence between registers. The proportion of cases that survived to 1 week was 69.3% (1392 cases) for total CDH cases and 72.7% (1107) for isolated cases...

CCT and sonographic findings in congenital craniopharyngioma

International Nuclear Information System (INIS)

Helmke, K.; Hausdorf, G.; Moehrs, D.; Laas, R.

1984-01-01

In a case of congenital craniopharyngioma results of the sonographic and CCT examinations are reported and compared with postmortem macroscopic cuts. Comparison is made of clinical data from six cases with congenital craniopharyngioma as reported in the literature. (orig.)

Pulmonary Hypertension in Congenital Heart Disease: Beyond Eisenmenger Syndrome.

Science.gov (United States)

Krieger, Eric V; Leary, Peter J; Opotowsky, Alexander R

2015-11-01

Patients with adult congenital heart disease have an increased risk of developing pulmonary hypertension. There are several mechanisms of pulmonary hypertension in patients with adult congenital heart disease, and understanding them requires a systematic approach to define the patient's hemodynamics and physiology. This article reviews the updated classification of pulmonary hypertension in patients with adult congenital heart disease with a focus on pathophysiology, diagnostics, and the evaluation of pulmonary hypertension in special adult congenital heart disease populations. Copyright © 2015 Elsevier Inc. All rights reserved.

Relaxation of soman-induced contracture of airway smooth muscle in vitro. (Reannouncement with new availability information)

Energy Technology Data Exchange (ETDEWEB)

Filbert, M.G.; Moore, D.H.; Adler, M.

1992-12-31

A possible role for beta-adrenergic agonists in the management of bronchoconstriction resulting from exposure to anticholinesterase compounds was investigated in vitro in canine tracheal smooth muscle. Norepinephrine, salbutamol and isoproterenol produced partial relaxation of soman-induced contractures. However, the relaxation induced was not sustained; muscle tensions returned to pretreatment levels within minutes despite the continued presence of beta-agonists. Increasing cAMP levels with the non beta-agonist bronchodilators such as thoophylline, a phosphodiesterase inhibitor, or forskolin, a specific stimulator of adenylate cyclase, resulted in more complete and longer lasting relaxation, suggesting that beta-adrenoceptor desensitization may contribute to the failure by beta-agonists to produce sustained relaxation. Nerve agents, Soman, Toxicity, Airway smooth muscle, In vitro, Physiology, Effects.

Fever in pregnancy and the risk of congenital malformations

DEFF Research Database (Denmark)

Sass, L.; Urhoj, S. K.; Kjærgaard, J.

2017-01-01

fetal malformations or death. Fever during pregnancy, especially during embryogenesis, has also been associated with congenital malformations in human offspring. The purpose of this large cohort study of clinically recognized pregnancies was to investigate whether fever during first trimester...... was associated with an increased risk of congenital malformations in the offspring. Methods: The Danish National Birth Cohort is a population-based cohort of 100,418 pregnant women and their offspring recruited in 1996 to 2002. Information on fever during pregnancy was collected prospectively by means of two....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

Relationship between electromyographic activity of the vastus lateralis while standing and the extent of bilateral simulated knee-flexion contractures.

Science.gov (United States)

Potter, P J; Kirby, R L

1991-12-01

The effect of simulated bilateral knee-flexion contractures (KFC) on the electromyographic (EMG) activity of the vastus lateralis was studied by testing 10 normal subjects using surface EMG to test the hypothesis that the activity of the knee extensors would increase as a function of the severity of the contracture. The root mean square of the EMG activity was determined from four 4-s samples taken at 30-s intervals, during 2 min of standing in each of five positions of simulated KFC (0 degree, 10 degrees, 20 degrees, 30 degrees and 40 degrees). A randomly balanced order of conditions was used. KFC were simulated in each subject by means of an adjustable line from the subject's waist to the sole of each foot. An analysis of variance was used to contrast EMG activity, and a significant difference was found between each of the positions (P less than 0.05). The mean (+/- 1 SD) EMG activity, expressed as a percentage of the maximum voluntary contraction, was 0.3% (+/- 0.2) at 0 degree, 7.6% (+/- 5.6) at 10 degrees, 10.9% (+/- 7.6) at 20 degrees, 16.6% (+/- 12.4) at 30 degrees and 24.0% (+/- 14.0) at 40 degrees. A linear relationship was found (r2 = 0.986), expressed by the equation y = 0.62 + 0.56 x, where y represents EMG activity and x represents the extent of simulated KFC (P = 0.0007). The results provide insight into the increased knee extensor activity necessary to stand with KFC and underline the importance of treating this common disorder.

Photoreactivable sector of lethal damage in ultraviolet-irradiated Escherichia coli cells

International Nuclear Information System (INIS)

Balgavy, P.

1976-01-01

The photoreactivable sector of lethal damage in Escherichia coli Bsub(s-1), Escherichia coli B/r Hcr - and Escherichia coli B/r Hcr + cells after ultraviolet irradiation at 254 nm is 0.823 +- 0.004, 0.70 +- 0.01 and 0.53 +- 0.06, respectively, at 99% confidence limits. For the low values of the photoreactivable sector in the B/r Hcr - and B/r Hcr + strains are likely to be responsible dark repair processes which eliminate lethal damage, brought about by pyrimidine dimers, preferably in comparison with lethal damage caused by photoproducts of another type. (author)

Congenital heart defects in children with oral clefts

Directory of Open Access Journals (Sweden)

Nahvi H.

2007-09-01

Full Text Available   Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referred to the Children's Medical Center and Bahramy; the teaching Hospitals of the Tehran University of Medical Sciences from 1991 to 2005 were prospectively enrolled in this study group. All patients were examined and noted by an academic cleft team contain; a pediatrician and a pediatric surgeon, and received cardiac consultation and echocardiography by a pediatric cardiologist. non cardiac associated anomalies, still born and patients without echocardiography were excluded from the study.  Data including age, gender, exposure to contagions and high risk elements ,consanguinity and familial history of oral cleft, type of oral cleft, results of cardiac consultation and echocardiography and associated cardiac anomalies were cumulated and analyzed by SSPS version 13.5Results: Among the 284 infants with oral clefts, 162 were male (57% and 122 were female (43%. Seventy-nine patients (27.8% had cleft lip, 84 (29.5% had cleft palate and 121 (42.6% had both cleft lip and palate. Of all the patients, 21.1% had congenital heart defects. the most common type Of these congenital heart defects(28.3%  was atrial septal defect.Conclusions: For patients with cleft lip and palate, we recommend preoperative cardiac consultation, careful examination and routine echocardiography for associated cardiac anomalies, as well as appropriate management and prophylactic antibiotic therapy for those with associated congenital heart anomaly.

Magnetic resonance imaging of congenital heart disease

International Nuclear Information System (INIS)

Fletcher, B.D.; Jacobstein, M.D.

1988-01-01

Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity

Heterochromatin position effects on circularized sex chromosomes cause filicidal embryonic lethality in Drosophila melanogaster.

Science.gov (United States)

Ferree, Patrick M; Gomez, Karina; Rominger, Peter; Howard, Dagnie; Kornfeld, Hannah; Barbash, Daniel A

2014-04-01

Some circularized X-Y chromosomes in Drosophila melanogaster are mitotically unstable and induce early embryonic lethality, but the genetic basis is unknown. Our experiments suggest that a large region of X-linked satellite DNA causes anaphase bridges and lethality when placed into a new heterochromatic environment within certain circularized X-Y chromosomes. These results reveal that repetitive sequences can be incompatible with one another in cis. The lethal phenotype also bears a remarkable resemblance to a case of interspecific hybrid lethality.

A rare combination: congenital factor VII deficiency with Chiari malformation.

Science.gov (United States)

Bay, Ali; Aktekin, Elif; Erkutlu, Ibrahim

2015-12-01

Congenital factor (VII) deficiency is a rare bleeding disorder. We present a patient with congenital FVII deficiency and congenital hydrocephalus who underwent a ventriculoperitoneal shunt operation and needed no prophylaxis after the procedure.

Increased arterial stiffness in children with congenital heart disease.

Science.gov (United States)

Häcker, Anna-Luisa; Reiner, Barbara; Oberhoffer, Renate; Hager, Alfred; Ewert, Peter; Müller, Jan

2018-01-01

Objective Central systolic blood pressure (SBP) is a measure of arterial stiffness and strongly associated with atherosclerosis and end-organ damage. It is a stronger predictor of cardiovascular events and all-cause mortality than peripheral SBP. In particular, for children with congenital heart disease, a higher central SBP might impose a greater threat of cardiac damage. The aim of the study was to analyse and compare central SBP in children with congenital heart disease and in healthy counterparts. Patients and methods Central SBP was measured using an oscillometric method in 417 children (38.9% girls, 13.0 ± 3.2 years) with various congenital heart diseases between July 2014 and February 2017. The test results were compared with a recent healthy reference cohort of 1466 children (49.5% girls, 12.9 ± 2.5 years). Results After correction for several covariates in a general linear model, central SBP of children with congenital heart disease was significantly increased (congenital heart disease: 102.1 ± 10.2 vs. healthy reference cohort: 100.4 ± 8.6, p congenital heart disease subgroups revealed higher central SBP in children with left heart obstructions (mean difference: 3.6 mmHg, p congenital heart disease have significantly higher central SBP compared with healthy peers, predisposing them to premature heart failure. Screening and long-term observations of central SBP in children with congenital heart disease seems warranted in order to evaluate the need for treatment.

Magnetic resonance imaging (MRI) of congenital cardiovascular malformations

International Nuclear Information System (INIS)

Sakakibara, Makoto; Kobayashi, Shirou; Imai, Hitoshi; Watanabe, Shigeru; Masuda, Yoshiaki; Inagaki, Yoshiaki; Morita, Huminori; Uematsu, Sadao; Arimizu, Noboru

1986-01-01

In order to determine the value of MRI in diagnosing congenital cardiovascular malformations, MR Images were obtained in 25 adult patients with congenital cardiovascular malformations. Gated MRI detected all of 13 atrial septal defects, and all of 4 ventricular septal defects, but ungated MRI detected none of 3 atrial septal defects. Other congenital cardiovascular malformations (2 with Ebstein's disease, 1 with Fallot's pentalogy, and 1 with Pulmonary stenosis) were well visualized. Vascular malformations (1 with Patent ducts arteriosus, 1 with Supravalvelar aortic stenosis, 1 with Coarctation of Aorta, 1 with Right Aortic Arch) were well visualized in all of 7 patients by ungated MRI. MRI was a valuable noninvasive method of diagnosing congenital heart disease. (author)

Insulin analogues in pregnancy and specific congenital anomalies

DEFF Research Database (Denmark)

de Jong, Josta; Garne, Ester; Wender-Ozegowska, Ewa

2016-01-01

Insulin analogues are commonly used in pregnant women with diabetes. It is not known if the use of insulin analogues in pregnancy is associated with any higher risk of congenital anomalies in the offspring compared with use of human insulin. We performed a literature search for studies of pregnant...... women with pregestational diabetes using insulin analogues in the first trimester and information on congenital anomalies. The studies were analysed to compare the congenital anomaly rate among foetuses of mothers using insulin analogues with foetuses of mothers using human insulin. Of 29 studies, we...... samples in the included studies provided insufficient statistical power to identify a moderate increased risk of specific congenital anomalies. Copyright © 2015 John Wiley & Sons, Ltd....

Introduction to the Congenital Heart Defects: Anatomy of the Conduction System.

Science.gov (United States)

Moore, Jeremy P; Aboulhosn, Jamil A

2017-06-01

The position and course of the conduction system in congenital heart disease are intricately tied to the underlying congenital malformation. Although only subtle differences exist between the anatomy of the conduction axis for simple congenital heart lesions and normal anatomy, almost every patient with congenital heart disease harbors some important anatomic variation. This article summarizes the body of literature by retaining original classical concepts and by attempting to translate the available knowledge into useful points for the congenital heart disease specialist. This discussion spans the entire spectrum of simple to complex congenital heart disease. Copyright © 2017 Elsevier Inc. All rights reserved.

Comparison between the incidence of right and left sided congenital torticollis

International Nuclear Information System (INIS)

Aslam, S.; Bashir, M.S.; Hussain, S.I.

2013-01-01

Congenital torticollis is an intriguing condition of unknown origin, characterized by unilateral shortening and tightness of the sternocleidomastoid muscle. Patients usually present with head tilt, facial asymmetry and plagiocephaly. A sternomastoid mass or tumor may or may not be clinically apparent. Untreated, cervical function and facial cosmesis may be severely compromised. Objective: My study is aimed at establishing a comparison between the incidence of right versus left sided congenital torticollis. Method: This observational study included 30 patients of congenital torticollis that completed the questionnaire. The data was collected from patients coming to the Physiotherapy and Orthopedic departments of Children Hospital, Lahore. Results: Results showed that right side was involved in 19 (63.3%) patients and left side was involved in 11 (36.7%) patients. Out of 30 patients, 14 (46.7%) were male, of which 8 had right sided congenital torticollis and 6 had left sided congenital torticollis, and 16 (53.3%) were female, of which right sided congenital torticollis and 5 had left sided congenital torticollis. Conclusion: Hence it is concluded that incidence of right sided congenital torticollis is more common than left sided congenital torticollis. The incidence of con-genital torticollis is higher in females than in males. (author)

CT appearance of congenital defect resembling the Hangman's fracture

International Nuclear Information System (INIS)

Williams, J.P. III; Baker, D.H.; Miller, W.A.

1999-01-01

Purpose. Congenital defects of C2 are rare and can be confused with Hangman's fractures. CT has been advocated as aiding in differentiation between an acute fracture and congenital defects. Methods. We present a case of a 2-year-old recent accident victim, who was erroneously diagnosed by plain film and CT as having a Hangman's fracture. Results. The CT demonstrated an atypical appearance of a congenital defect. Conclusion. This case shows that the radiographic differentiation between a Hangman's fracture and a congenital defect is more difficult than previously described. (orig.)

Congenital cytomegalovirus infection: disease burden and screening tools : towards newborn screening

OpenAIRE

Vries, Jutte Jacoba Catharina de

2012-01-01

Cytomegalovirus (CMV) infection is the most common congenital viral infection worldwide. The symptom of congenital CMV infection encountered most frequently is sensorineural hearing loss, which will affect approximately one out of five congenitally infected newborns. Because of the late-onset nature of the hearing loss, up to half of the children with congenital CMV-related hearing loss may not be detected in the newborn hearing screening. This thesis addresses several aspects of congenital CM...

Congenital malformations in paediatric and neurosurgical practices ...

African Journals Online (AJOL)

Congenital malformations in paediatric and neurosurgical practices: problems and pattern (A preliminary report) ... Open Access DOWNLOAD FULL TEXT ... over a 5-year period (1998 to 2002) with congenital anomalies to the Paediatric Surgery and Neurosurgery units of the University Teaching Hospital, Ilorin, Nigeria.

The changing epidemiology of congenital heart disease

NARCIS (Netherlands)

van der Bom, Teun; Zomer, A. Carla; Zwinderman, Aeilko H.; Meijboom, Folkert J.; Bouma, Berto J.; Mulder, Barbara J. M.

2011-01-01

Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart

Congenital neutropenia: diagnosis, molecular bases and patient management

Directory of Open Access Journals (Sweden)

Chantelot Christine

2011-05-01

Full Text Available Abstract The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe ( When neutropenia is detected, an attempt should be made to establish the etiology, distinguishing between acquired forms (the most frequent, including post viral neutropenia and auto immune neutropenia and congenital forms that may either be isolated or part of a complex genetic disease. Except for ethnic neutropenia, which is a frequent but mild congenital form, probably with polygenic inheritance, all other forms of congenital neutropenia are extremely rare and have monogenic inheritance, which may be X-linked or autosomal, recessive or dominant. About half the forms of congenital neutropenia with no extra-hematopoetic manifestations and normal adaptive immunity are due to neutrophil elastase (ELANE mutations. Some patients have severe permanent neutropenia and frequent infections early in life, while others have mild intermittent neutropenia. Congenital neutropenia may also be associated with a wide range of organ dysfunctions, as for example in Shwachman-Diamond syndrome (associated with pancreatic insufficiency and glycogen storage disease type Ib (associated with a glycogen storage syndrome. So far, the molecular bases of 12 neutropenic disorders have been identified. Treatment of severe chronic neutropenia should focus on prevention of infections. It includes antimicrobial prophylaxis, generally with trimethoprim-sulfamethoxazole, and also granulocyte-colony-stimulating factor (G-CSF. G-CSF has considerably improved these patients' outlook. It is usually well tolerated, but potential adverse effects include thrombocytopenia, glomerulonephritis, vasculitis and osteoporosis. Long-term treatment with G-CSF, especially at high doses, augments the spontaneous risk of leukemia in patients with congenital neutropenia.

MR imaging of congenital heart disease

International Nuclear Information System (INIS)

Kersting-Sommerhoff, B.A.; Diethelm, L.; Teitel, D.F.; Sommerhoff, C.P.; Higgins, C.B.

1988-01-01

Sensitivity and specificity of MR imaging for the evaluation of congenital heart disease was assessed in 51 patients (31 male and 20 female, aged 3-69 years), with a total of 115 congenital heart lesions. The true diagnosis was established by angiocardiography, catheterization, or surgery. Sensitivity at a specificity level of 90% was determined by means of receiver operating characteristic curves for great vessel relationships (100%), thoracic aorta anomalies (94%), atrial (91%) and ventricular (100%) septal defects, visceroatrial situs (100%), loop (100%), right ventricular outflow obstructions (95%), aortic valve (52%), mitral valve (62%), and tricuspid valve (76%). Spin-echo MR imaging is a reliable method for the noninvasive evaluation of congenital heart disease but is limited in the assessment of some valvular anomalies

Cerebral glucose metabolic abnormality in patients with congenital scoliosis

International Nuclear Information System (INIS)

Nam, H. Y.; Seo, G. T.; Lee, J. S.; Kim, S. C.; Kim, I. J.; Kim, Y. K.; Jeon, S. M.

2007-01-01

A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with adolescent idiopathic scoliosis. The mean mini-mental status exam score in the congenital scoliosis group was significantly lower than that in the adolescent idiopathic scoliosis group. Group analysis found that various brain areas of patients with congenital scoliosis showed glucose hypometabolisms in the left prefrontal cortex (Brodmann area 10), right orbitofrontal cortex (Brodmann area 11), left dorsolateral prefrontal cortex (Brodmann area 9), left anterior cingulate gyrus (Brodmann area 24) and pulvinar of the left thalamus. From this study, we could find the metabolic abnormalities of brain in patients with congenital scoliosis and suggest the possible role of voxel-based analysis of brain fluorodeoxyglucose positron emission tomography

Cerebral glucose metabolic abnormality in patients with congenital scoliosis

Energy Technology Data Exchange (ETDEWEB)

Nam, H. Y.; Seo, G. T.; Lee, J. S.; Kim, S. C.; Kim, I. J.; Kim, Y. K.; Jeon, S. M. [Pusan National University Hospital, Pusan (Korea, Republic of)

2007-07-01

A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with adolescent idiopathic scoliosis. The mean mini-mental status exam score in the congenital scoliosis group was significantly lower than that in the adolescent idiopathic scoliosis group. Group analysis found that various brain areas of patients with congenital scoliosis showed glucose hypometabolisms in the left prefrontal cortex (Brodmann area 10), right orbitofrontal cortex (Brodmann area 11), left dorsolateral prefrontal cortex (Brodmann area 9), left anterior cingulate gyrus (Brodmann area 24) and pulvinar of the left thalamus. From this study, we could find the metabolic abnormalities of brain in patients with congenital scoliosis and suggest the possible role of voxel-based analysis of brain fluorodeoxyglucose positron emission tomography.

Congenital Heart Diseases associated with Identified Syndromes ...

African Journals Online (AJOL)

Recognised syndromes were seen in 69(68%) cases. Down syndrome with 54 children contributed 78.3% of those with known syndromes. Other identified syndromes and associations were Marfan's, Noonan's, Edwards, Prune Belly, Apert, Ellis-van creveld syndrome and congenital rubella syndrome. Congenital heart ...

Health in adults with congenital heart disease

NARCIS (Netherlands)

Cuypers, Judith A. A. E.; Utens, Elisabeth M. W. J.; Roos-Hesselink, Jolien W.

2016-01-01

Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many

The role of subscapularis muscle denervation in the pathogenesis of shoulder internal rotation contracture after neonatal brachial plexus palsy: a study in a rat model.

Science.gov (United States)

Mascarenhas, Vasco V; Casaccia, Marcelo; Fernandez-Martin, Alejandra; Marotta, Mario; Fontecha, Cesar G; Haddad, Sleiman; Knörr, Jorge; Soldado, Francisco

2014-12-01

We assessed the role of subscapularis muscle denervation in the development of shoulder internal rotation contracture in neonatal brachial plexus injury. Seventeen newborn rats underwent selective denervation of the subscapular muscle. The rats were evaluated at weekly intervals to measure passive shoulder external rotation. After 4 weeks, the animals were euthanized. The subscapularis thickness was measured using 7.2T MRI axial images. The subscapularis muscle was then studied grossly, and its mass was registered. The fiber area and the area of fibrosis were measured using collagen-I inmunostained muscle sections. Significant progressive decrease in passive shoulder external rotation was noted with a mean loss of 58° at four weeks. A significant decrease in thickness and mass of the subscapularis muscles in the involved shoulders was also found with a mean loss of 69%. Subscapularis muscle fiber size decreased significantly, while the area of fibrosis remained unchanged. Our study shows that subscapularis denervation, per se, could explain shoulder contracture after neonatal brachial plexus injury, though its relevance compared to other pathogenic factors needs further investigation. © 2014 Orthopaedic Research Society. Published by Wiley Periodicals, Inc.

Randomized crossover comparison of the laryngeal mask airway classic with i-gel laryngeal mask airway in the management of difficult airway in post burn neck contracture patients

Directory of Open Access Journals (Sweden)

Jeevan Singh

2012-01-01

Full Text Available Purpose: The objective of the study was to compare the performance of i-gel supraglottic airway with cLMA in difficult airway management in post burn neck contracture patients and assess the feasibility of i-gel use for emergency airway management in difficult airway situation with reduced neck movement and limited mouth opening. Methods: Prospective, crossover, randomized controlled trial was performed amongst forty eight post burn neck contracture patients with limited mouth opening and neck movement. i-gel and cLMA were placed in random order in each patient. Primary outcome was overall success rate. Other measurements were time to successful ventilation, airway leak pressure, fiberoptic glottic view, visualization of square wave pattern. Results: Success rate for the i-gel was 91.7% versus 79.2% for the cLMA. i-gel required shorter insertion time (19.3 seconds vs. 23.5 seconds, P=0.000. Airway leak pressure difference was statistically significant (i-gel 21.2 cm H20; cLMA 16.9 cm H 2 0; P=0.00. Fiberoptic view through the i-gel showed there were less epiglottic downfolding and better fiberoptic view of the glottis than cLMA. Overall agreement in insertion outcome for i-gel was 22/24 (91.7% successes and 2/24(8.3% failure and for cLMA, 19/24 (79.16% successes and 5/24 (16.7% failure in the first attempt. Conclusion: The i-gel is cheap, effective airway device which is easier to insert and has better clinical performance in the difficult airway management of the airway in the post burn contracture of the neck. Our study shows that i-gel is feasible for emergency airway management in difficult airway situation with reduced neck movement and limited mouth opening in post burn neck.

Cardiovascular magnetic resonance in congenital heart disease

International Nuclear Information System (INIS)

Cazacu, A.; Ciubotaru, A.

2010-01-01

The increasing prevalence of congenital heart disease can be attributed to major improvements in diagnosis and treatment. Cardiovascular magnetic resonance imaging plays an important role in the clinical management strategy of patients with congenital heart disease. The development of new cardiovascular magnetic resonance (CMR) techniques allows comprehensive assessment of complex cardiac anatomy and function and provides information about the long-term residual post-operative lesions and complications of surgery. It overcomes many of the limitations of echocardiography and cardiac catheterization. This review evaluates the role of cardiovascular magnetic resonance imaging modality in the management of subject with congenital heart disease (CHD). (authors)

The heart: Congenital disease

International Nuclear Information System (INIS)

Higgins, C.B.

1987-01-01

The most important diagnostic requirement in congenital heart disease (CHD) is definition of cardiovascular pathoanatomy. The considerable success in operative correction of even the most complex anomalies in recent years compels ever increasing precision in preoperative demonstration of these anomalies. Early experience with magnetic resonance imaging (MRI) at several institutions indicated that this modality is an effective noninvasive technique for evaluation of CHD. Indeed, MRI seems to have some advantage over other techniques, including angiography, for definitive diagnosis of congenital anomalies of the heart and great arteries and veins. The absence of ionizing radiation and contrast medium in MRI is an additional advantage; the former is particularly important for children, who, up to this time, have frequently been subjected to enormous radiation burdens from multiple cineangiograms during initial diagnosis and follow-up. This chapter describes the MRI appearance of cardiovascular anatomy im the segmental fashion proposed for analysis of complex CHD. Likewise, MRI demonstration of congenital cardiovascular lesions is organized into abnormalities situated at the four segmental cardiovascular levels: great vessels, atria, ventricles, and visceroatrial relationship. The role of MRI in evaluation of complex ventricular anomalies such as single ventricle and thoracic aortic abnormalities is specifically described

Frequency of Congenital Cardiac Malformations in the Neonates with Congenital Hypothyroidism

Directory of Open Access Journals (Sweden)

yazdan ghandi

2018-05-01

Full Text Available Background: Congenital hypothyroidism (CH is a prevalent disorder, which is associated with several other congenital anomalies, especially cardiac diseases. The present study aimed to determine the prevalence of congenital heart disease (CHD in the neonates with CH.Methods: This cross-sectional study was conducted on two groups of 79 subjects to compare the type and frequency of congenital cardiac anomalies between the neonates with the confirmed diagnosis of CH (TSH≥10 mlU/ml and healthy infants. The study was performed in Kowsar Clinic affiliated to Arak University of Medical Sciences, Iran. Level of thyroid-stimulating hormone (TSH was measured within days 3-7 of birth using the samples collected from the soles of the neonates. In addition, all the subjects were evaluated for the presence of CHD using echocardiography before day 30 of life.Results: In total, 79 neonates were enrolled in the study. The case group consisted of 34 females (43.04% and 45 males (53.96%, and the control group consisted of 43 females (54.43% and 36 males (45.57%. The groups were matched in terms of age and gender. Cardiac involvement was only detected in the case group (CH infants with the prevalence of 22.7%. Among the non-cyanotic malformations observed in the case group, one infant had ventricular septal defect (1.3%, eight infants had atrial septal defect (10.1%, three infants had patent ductus arteriosus (3.8%, three neonates had endocardial cushion defect (3.8%, two neonates had pulmonary stenosis (2.5%, and one infant had dilated cardiomyopathy (1.3%. Moreover, six neonates were diagnosed with Down syndrome. All the infants with endocardial cushion defect (n=3 had Down syndrome, and no significant association was observed between TSH and thyroxine (T4 in the presence of CHD.Conclusion: According to the results, the high prevalence of cardiac malformations in the neonates with CH necessitated cardiac examinations using echocardiography.

Inheritance of congenital cataracts and microphthalmia in the Miniature Schnauzer.

Science.gov (United States)

Gelatt, K N; Samuelson, D A; Bauer, J E; Das, N D; Wolf, E D; Barrie, K P; Andresen, T L

1983-06-01

Congenital cataracts and microphthalmia in the Miniature Schnauzer were inherited as an autosomal recessive trait. Eighteen matings of affected X affected Miniature Schnauzers resulted in 87 offspring with congenital cataracts and microphthalmia (49 males/38 females). Two matings of congenital cataractous and microphthalmic Miniature Schnauzers (2 females) X a normal Miniature Schnauzer (1 male) yielded 11 clinically normal Miniature Schnauzers (7 males/4 females). Eighteen matings of congenital cataractous and microphthalmic Miniature Schnauzers (6 males) X carrier Miniature Schnauzers (9 females) produced 81 offspring; 39 exhibited congenital cataracts and microphthalmia (20 males/19 females) and 42 had clinically normal eyes (17 males/25 females).

Magnetic resonance imaging in congenital superior oblique palsy

International Nuclear Information System (INIS)

Sato, Miho; Kondo, Nagako; Awaya, Shinobu; Nomura, Hideki; Yagasaki, Teiji.

1996-01-01

MRI examinations were carried out on the defined congenital superior oblique palsy in order to distinguish the congenital and acquired palsies. Subjects were 19 patients diagnosed as congenital and their MRI images of 3 or 5 mm-thick coronary slice were taken. The volume of the oblique muscle was calculated from the images and a comparison was made between the diseased and healthy normal sides. The oblique muscle volume at the diseased side was found reduced in most of congenital superior oblique palsy patients. The reduction was observed even at childhood and was thus considered to be a malformation. Further, it is conceivable that the palsy could be caused by the abnormality in the central nervous system as well as by the present anatomical abnormality. (K.H.)

DupuytrEn Treatment EffeCtiveness Trial (DETECT): a protocol for prospective, randomised, controlled, outcome assessor-blinded, three-armed parallel 1:1:1, multicentre trial comparing the effectiveness and cost of collagenase clostridium histolyticum, percutaneous needle fasciotomy and limited fasciectomy as short-term and long-term treatment strategies in Dupuytren's contracture.

Science.gov (United States)

Räisänen, Mikko P; Karjalainen, Teemu; Göransson, Harry; Reito, Aleksi; Kautiainen, Hannu; Malmivaara, Antti; Leppänen, Olli V

2018-03-28

Dupuytren's contracture (DC) is a chronic fibroproliferative disorder of the palmar fascia which leads to flexion contracture in one or more fingers. There is no definitive cure for DC, and treatment aims at relieving symptoms by releasing the contracture using percutaneous or operative techniques. We planned a prospective, randomised, controlled, outcome assessor-blinded, three-armed parallel 1:1:1, multicentre trial comparing the effectiveness and cost of (1) collagenase clostridium histolyticum injection followed by limited fasciectomy in non-responsive cases, (2) percutaneous needle fasciotomy followed by limited fasciectomy in non-responsive cases and (3) primary limited fasciectomy during short-term and long-term follow-up for Tubiana I-III stages DC. We will recruit participants from seven national centres in Finland. Primary outcome is the rate of success in the treatment arm at 5 years after recruitment. Success is a composite outcome comprising (1) at least 50% contracture release from the date of recruitment and (2) participants in a patient-accepted symptom state (PASS). Secondary outcomes are (1) angle of contracture, (2) quick disabilities of the arm, a shoulder and hand outcome measure (QuickDASH), (3) perceived hand function, (4) EQ-5D-3L, (5) rate of major adverse events, (6) patient's trust of the treatment, (7) global rating, (8) rate of PASS, (9) rate of minimal clinically important improvement, (10) expenses, (11) progression of disease, (12) progression-free survival, (13) favoured treatment modality, (14) patients achieving full contracture release and >50% improvement and (15) patient satisfaction with the treatment effect. Predictive factors for achieving the PASS will also be analysed. The protocol was approved by the Tampere University Hospital Institutional Review Board and Finnish Medicine Agency. The study will be performed according to the principles of good clinical practice. The results of the trial will be disseminated as

Severe neonatal marfan syndrome resulting from a De Novo 3-bp insertion into the fibrillin gene on chromosome 15

Energy Technology Data Exchange (ETDEWEB)

Milewicz, D.M.; Duvic, M. (Univ. of Texas Medical School, Houston, TX (United States))

1994-03-01

Severe neonatal Marfan syndrome has features of the Marfan syndrome and congenital contractural arachnodactyly present at birth, along with unique features such as loose, redundant skin and pulmonary emphysema. Since the Marfan syndrome and congenital contractural arachnodactyly are due to mutations in different genes, it has been uncertain whether neonatal Marfan syndrome is due to mutations in the fibrillin gene on chromosome 15 or in another gene. The authors studied an infant with severe neonatal Marfan syndrome. Dermal fibroblasts were metabolically labeled and found to secrete fibrillin inefficiently when compared with control cells. Reverse transcription and amplification of the proband's fibroblast RNA was used to identify a 3-bp insertion between nucleotides 480-481 or 481-482 of the fibrillin cDNA. The insertion maintains the reading frame of the protein and inserts a cysteine between amino acids 160 and 161 in an epidermal growth-factor-like motif of fibrillin. This 3-bp insertion was not found in the fibrillin gene in 70 unrelated, unaffected individuals and 11 unrelated individuals with the Maran syndrome. The authors conclude that neonatal Marfan syndrome is the result of mutations in the fibrillin gene on chromosome 15 and is part of the Marfan syndrome spectrum. 32 refs., 3 figs.

Prenatal education for congenital toxoplasmosis.

Science.gov (United States)

Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

2015-10-23

Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 May 2015), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials of all types of prenatal education on toxoplasmosis infection during pregnancy. Cluster-randomized trials were eligible for inclusion. Two review authors independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. Two cluster-randomized controlled trials (RCTs) (involving a total of 5455 women) met the inclusion criteria. The two included trials measured the effectiveness of the intervention in different ways, which meant that meta-analysis of the results was not possible. The overall quality of the two studies, as assessed using the GRADE approach, was low, with high risk of detection and attrition bias in both included trials.One trial (432 women enrolled) conducted in Canada was judged of low methodological quality. This trial did not report on any of the review's pre-specified primary outcomes and the secondary outcomes reported results only as P values. Moreover, losses to follow-up were high (34%, 147 out of 432 women initially enrolled). The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. The second trial conducted in France was also judged of low methodological quality. Losses to follow-up were also high (44.5%, 2233 out of 5023 women initially enrolled) and differential (40% in the intervention group and 52% in the control group). The authors concluded that prenatal education for congenital toxoplasmoses has a

Congenital anophthalmia: current concepts in management.

Science.gov (United States)

Quaranta-Leoni, Francesco M

2011-09-01

The introduction of hydrogel socket and orbital expanders has modified the approach towards the rehabilitation of congenital anophthalmia. This study highlights the most recent advances for the treatment of congenital anophthalmia based on personal experience and the review of recent literature. Hydrogel socket expanders may be positioned as an out-patient procedure with topical anaesthesia, using cyanoacrylate glue as opposed to temporary tarsorraphy. Increased orbital volume has been confirmed by computed tomography (CT) scan or magnetic resonance imaging (MRI) following early dermis-fat graft in children with congenital anophthalmia. An orbital tissue expander made of an inflatable silicone globe sliding on a titanium T-plate and secured to the lateral orbital rim appears to be effective to stimulate orbital bone growth and development. Congenital anophthalmia has a complex cause with both genetic and environmental factors involved. The ideal treatment is simultaneous expansion of the eyelids, socket and orbital bones, and it should begin after birth as soon as possible. Socket expansion with self-inflating expanders is a useful technique, although custom-made conformers may produce similar results. Dermis-fat grafts are another reasonable option as an orbital implant, following adequate lid and socket expansion.

Genetics Home Reference: congenital central hypoventilation syndrome

Science.gov (United States)

... Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit ... BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr ...

Optimization of physical rehabilitation in congenital clubfoot