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Emura Kenji K Division of Anatomy and Neurobiology, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, - - 2014
The condition of the acromioclavicular joint (ACJ) is considered to be one factor in the etiology of shoulder impingement syndrome, but there are few supporting morphological data. Fifty-two sides of 35 cadavers were investigated macroscopically and histologically using Safranin O, Fast green, and Weigert's iron hematoxylin staining. The ACJs were ...
Kawanishi Yohei Y Department of Orthopaedic Surgery, Osaka University Graduate School of Medicine, Osaka, Japan. Electronic address: - - 2014
Morphologic changes in the cubital tunnel during elbow motion in patients with elbow osteoarthritis have not been examined in vivo. We examined changes in cubital tunnel morphology during elbow motion and characteristics of medial osteophyte development to elucidate whether cubital tunnel area and medial osteophyte size are factors contributing to cubital ...
Jain Viral V VV *Cincinnati Children's Hospital Medical Center, Cincinnati, OH †Kosair Children's Hospital, Children's Orthopedics of Louisville, Louisville, - - 2014
We present a case of an incidental finding of dural ectasia in a child diagnosed with Larsen syndrome. Larsen syndrome is a rare inherited disorder of connective tissue characterized by facial dysmorphism, congenital joint dislocations of the hips, knees and elbows, and deformities of the hands and feet. Dural ectasia ...
Roberts Samuel T ST John Hunter Hospital, New Lambton, New South Wales - - - 2014
We describe the first case of clinically significant neurological manifestations of the fat embolism syndrome in the absence of both patent foramen ovale and cardiopulmonary resuscitation during hip hemiarthroplasty. This is an important differential diagnosis in postoperative neurological dysfunction requiring high index of suspicion. Management is supportive.
Foch Eric E Department of Kinesiology, Recreation and Sport Studies, University of Tennessee, Knoxville, - - 2014
Proximal factors such as excessive frontal plane pelvis and trunk motion have been postulated to be biomechanical risk factors associated with iliotibial band syndrome. In addition, lateral core endurance deficiencies may be related to increased pelvis and trunk motion during running. The purpose of this cross-sectional investigation was to determine ...
Noehren Brian B Division of Physical Therapy, University of Kentucky, Lexington, - - 2014
Study Design Cross-sectional laboratory study. Objectives To assess differences in hip strength, iliotibial band length, and hip and knee mechanics during running between male runners with iliotibial band syndrome and healthy controls. Background Flexibility, strength, and running mechanics are commonly assessed in patients with iliotibial band syndrome (ITBS). However, these ...
Sadeghilar Aidin A aDepartment of Orthopaedics and Traumatology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur bDepartment of Orthopaedics, International Medical Schools, Management and Science University, Shah Alam, - - 2014
Dislocation or subluxation of the hip is considered as the most common hip problem in patients with Down syndrome. Recommended treatment of chronic dislocation treatment is open reduction combined with femoral and/or pelvis osteotomies. We report a Down syndrome child with chronic hip dislocation who was successfully treated with adductor ...
Morizane Kazuki K aDepartment of Orthopedic Surgery, Ehime Seikyo Hospital bDepartment of Orthopedics, Tsubasa Clinic, Matsuyama cDepartment of Bone and Joint Surgery, Ehime University Graduate School of Medicine, Toon, Ehime, - - 2014
There have been a few reports of cyclops syndrome following a partial rupture of the anterior cruciate ligament (ACL) without surgical reconstruction. We have reported for the first time a case of cyclops lesion with locking symptoms after partial rupture of the ACL. A 14-year-old girl twisted her right knee ...
Garza Leon Manuel - - 2013
Abstract We report a 37-year-old woman with uveitic phase of Vogt Koyanagi Harada disease and tonic pupil, the tonic pupil persisted after other clinical features of this syndrome had disappeared; neurological evaluation shows absent knee and arm tendon reflexes and positive cholinergic supersensitivity test with Pilocarpine 0.125% confirming the diagnosis ...
Weiner Dennis S DS Department of Pediatric Orthopaedic Surgery, Akron Children's Hospital, 300 Locust Street, Ste. 160, Akron, OH 44302-1821 USA ; Northeast Ohio Medical University, Rootstown, OH USA ; Regional Skeletal Dysplasia Clinic, Akron Children's Hospital, Akron, OH 44308 - - 2013
Ellis-van Creveld is a dwarfing syndrome transmitted as an autosomal recessive trait. The constant features of the condition include acromelic-micromelic dwarfism, ectodermal dysplasia involving the nails, teeth and gums, postaxial polydactyly of the hands and congenital heart disease. Congenital heart disease affects 50-60 % of all patients and nearly 50 % of ...
Zywiel M G - - 2013
Down's syndrome is associated with a number of musculoskeletal abnormalities, some of which predispose patients to early symptomatic arthritis of the hip. The purpose of the present study was to review the general and hip-specific factors potentially compromising total hip replacement (THR) in patients with Down's syndrome, as well as ...
Wang Cheng-Hai - - 2013
The objective of this study was to explore the clinical effect of medial and lateral retinaculum plasty for congenital patellar dislocation due to small patella syndrome. Twelve patients with congenital patellar dislocation due to small patella syndrome treated at the authors' hospital between January 2005 and February 2010 were enrolled ...
Lippacher S - - 2013
Nail-patella syndrome (NPS) or hereditary onycho-osteodysplasia is a relatively rare autosomal dominant disorder with the classic tetrad of fingernail abnormalities, hypoplastic patellae, radial head dislocation and iliac horns. The anatomic abnormalities in NPS often lead to subluxation or dislocation of the patellaeca causing knee instability and pain. Although most existing ...
Schoenecker Jonathan G - - 2013
The pathogenesis and clinical course of hip dysplasia in cerebral palsy and Down syndrome is different than idiopathic developmental dysplasia of the hip. Unlike idiopathic developmental hip dysplasia, hip development in cerebral palsy and Down syndrome is typically normal in utero and instability develops after birth secondary to musculoskeletal disorders ...
Sankar Wudbhav N - - 2013
Neurogenic conditions and syndromes are often associated with clinically significant acetabular dysplasia and/or instability of the hip. Options for surgical treatment include reshaping, salvage, or redirectional pelvic osteotomies. "Complete" redirectional osteotomies, including the triple innominate osteotomy and the periacetabular osteotomy, completely free the acetabulum from the rest of the pelvis ...
Elsorafy Kareem R - - 2013
Acute compartment syndrome (ACS) of the thigh is an uncommon condition usually treated surgically by emergency dermofasciotomy. We report a rare case of acute delayed compartment syndrome of the anterior compartment of the thigh following an uncemented Total Hip Replacement (THR). Surgical decompression was performed and patient had full recovery.
Detweiler Stacey - - 2013
Costello syndrome is a rare genetic condition caused by heterozygous alterations in HRAS and characterized by multi-system abnormalities. Individuals with Costello syndrome usually present with severe feeding difficulties in infancy, short stature, coarse facial features, increased tumor risks, cardiac and neurological complications, intellectual disability and orthopedic complications. This study further ...
Shaaban Sherin - - 2013
Using a combination of homozygosity mapping and whole-exome sequencing, we identified a novel missense c.1819G>A mutation (S607G) in the endothelin-converting enzyme-like 1 (ECEL1) gene in a consanguineous pedigree of Turkish origin presenting with a syndrome of camptodactyly, scoliosis, limited knee flexion, significant refractive errors and ophthalmoplegia. ECEL1 mutations were recently ...
Cermak Katerina - - 2013
A 46-year-old female patient with Ehlers-Danlos Syndrome had undergone fusion of her right knee 25 years before presentation. This markedly affected her quality of life. She underwent a two-stage conversion to a constrained rotating-hinge total knee arthroplasty. She regained a satisfying range of motion and she has a painfree, mobile ...
Foch Eric - - 2013
Proximal factors such as excessive frontal plane pelvis and trunk motion have been postulated to be biomechanical risk factors associated with iliotibial band syndrome. Additionally, lateral core endurance deficiencies may be related to increased pelvis and trunk motion during running. The purpose of this cross-sectional investigation was to determine if ...
Agarwala Sanjay R - - 2013
This retrospective study of 208 (204 patients) total knee arthroplasties evaluated the incidence of patellar clunk syndrome for two high-flex posterior stabilized knee prostheses; a high-flex fixed bearing prosthesis and a high-flex mobile bearing prosthesis. Patients were followed for up to two years and were evaluated for patellar clunk and ...
Mártinez-García Mónica - - 2013
Albinism is a rare genetic condition associated with a variable hypopigmentation phenotype, which can affect the pigmentation of only the eyes or both the eyes and the skin/hair, resulting in ocular (OA) or oculocutaneous albinism (OCA), respectively. At least four forms of OCA and one of OA are known, associated ...
Yeo Soo Hyun - - 2013
Fat embolism occurs after long bone fracture or orthopedic surgery and usually shows mild symptom. But it rarely results in fat embolism syndrome, presenting as multiorgan dysfunction such as lung, brain and skin. Although the diagnosis of fat embolism syndrome is mostly based on clinical features, we experienced fat embolism ...
Nlandu Alice - - 2013
A case of Gollop-Wolfgang syndrome is reported in which an alternative treatment to amputation was chosen. The patient had the classical Y-shaped femur and total tibial agenesis. The recommended treatment in absence of extensor apparatus is knee disarticulation but the parents refused amputation. An alternative treatment was proposed to allow ...
Akbar M - - 2013
We compared functional and structural changes in the hands, in particular the prevalence of carpal tunnel syndrome, in 56 paraplegic patients who had been wheelchair dependent for over 25 years with a group of able-bodied volunteers (with matching criteria for gender and age). The hands were assessed by clinical examination, ...
Nichols Deidra - - 2013
Thoracic outlet syndrome may result from a posterior sternoclavicular (SC) joint subluxation, or an anterior SC joint subluxation after surgical fixation. This case report presents the physical therapy management of a patient with bilateral thoracic outlet syndrome (TOS) secondary to bilateral idiopathic anterior SC joint subluxation. A 16-year-old female presented ...
Borja Maria J - - 2013
Fat pad impingement syndrome refers to anterior knee pain caused by hemorrhage, inflammation, fibrosis and/or degeneration of the anterior knee fat pads. Symptomatic impingement of the prefemoral fat pad can be clinically significant but easily overlooked on magnetic resonance imaging, unless looked for. It should be evaluated in patients with ...
Al Kaissi Ali - - 2013
Objective: To further investigate the underlying pathology of axial and appendicular skeletal abnormalities such as painful spine stiffness, gait abnormalities, early onset osteoarthritis and patellar instability in patients with Stickler syndrome type I. Radiographic and tomographic analyses were organized. Methods: From a series of Stickler syndrome patients followed from early ...
Duygun Fatih - - 2013
Isolated bilateral absent patella is seen very rarely. It is generally encountered as a part of nail-patella syndrome. An 18-year-old male patient presented with left absent patella and right small patella.
Siddiqui Sarah - - 2013
Orbital apex syndrome (OAS) is an optic nerve dysfunction with palsy of the third, fourth and sixth cranial nerves and ophthalmic division of the fifth cranial nerve. Causes can be infective, inflammatory, traumatic, neoplastic or vasculitic. We describe the first case in British literature and second worldwide of OAS presenting ...
Solomon Lauren A LA Departments of Paediatrics and Biochemistry, Schulich School of Medicine & Dentistry, The University of Western Ontario, London, Ontario, Canada ; Children's Health Research Institute, London, Ontario, - - 2013
The chromatin remodelling protein ATRX is associated with the rare genetic disorder ATR-X syndrome. This syndrome includes developmental delay, cognitive impairment, and a variety of skeletal deformities. ATRX plays a role in several basic chromatin-mediated cellular events including DNA replication, telomere stability, gene transcription, and chromosome congression and cohesion during ...
Tensho K - - 2012
Snapping syndrome rarely occurs at the knee joint. This is the first report of snapping pes syndrome after total knee arthroplasty. Surgeons should be aware of the presence of such a case and pay attention to the fact that snapping symptoms could be caused by a residual bony prominence and ...
Saavedra Miguel Ángel - - 2012
The clinical anatomy of several pain syndromes of the knee is herein discussed. These include the iliotibial tract syndrome, the anserine syndrome, bursitis of the medial collateral ligament, Baker's cyst, popliteus tendon tenosynovitis and bursitis of the deep infrapatellar bursa. These syndromes are reviewed in terms of the structures involved ...
Gordon Christopher T - - 2012
: Oesophageal atresia (OA) and mandibulofacial dysostosis (MFD) are two congenital malformations for which the molecular bases of syndromic forms are being identified at a rapid rate. In particular, the EFTUD2 gene encoding a protein of the spliceosome complex has been found mutated in patients with MFD and microcephaly (MIM610536). ...
Park Jin-Young - - 2012
PURPOSE: The purpose of this study was to analyze the outcomes of arthroscopic coracoplasty in the treatment of subcoracoid impingement syndrome. METHODS: We compared 23 shoulders that underwent arthroscopic coracoplasty for the treatment of subcoracoid impingement syndrome with 28 shoulders that did not undergo arthroscopic coracoplasty for the treatment of ...
Wu Wen-Te - - 2012
To evaluate the clinical application of arthroscopy in the diagnosis and treatment of anterior impingement syndrome of the ankle joint in physical workers. A retrospective study was carried out at the Department of Orthopedics, the First Hospital affiliated to Nanhua University, Hengyang, China from March 2005 to December 2011. Seventeen ...
Heywood Nick A - - 2012
Developmental dysplasia of the hip is one of the most common congenital musculoskeletal disorders of childhood, affecting 1-3% of newborns. An early diagnosis and prompt treatment is essential to avoid complex treatments and achieve improved results. Since 1992, we have undertaken a screening programme for clinical instability and at risk ...
Ruiz de Luzuriaga Brian C - - 2012
OBJECTIVE: To describe imaging findings in patients with synovial fringe (SF) syndrome of the elbow and to compare with a control population. MATERIALS AND METHODS: Nine patients (5 men, 4 women) whose mean age was 35.7 years were diagnosed with SF syndrome and had undergone preoperative elbow MRI. The radiohumeral (RH) ...
Erten Sukran - - 2012
We report a case that has Gitelman syndrome (GS) and familial Mediterranean fever (FMF) presenting with recurrent arthritis of right knee and heel pain. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. Genetic analysis revealed the presence of heterozygous E148Q mutation in the MEFV gene. Management with potassium, magnesium ...
Heckman Daniel S - - 2012
This case report describes the arthroscopic findings in two patients with nail-patella syndrome (NPS). In both cases, a midline synovial septum was encountered that completely subdivided the knee into medial and lateral compartments. One patient required two subsequent arthroscopic procedures, and the synovial septum was found to have recurred even ...
Raj Shashi - - 2012
Children with sickle cell disease have a very high risk of lifelong neurologic morbidity and mortality. Cerebrovascular accidents are a known complication in children with sickle cell disease. Posterior reversible encephalopathy syndrome is a constellation of acute neurologic findings increasingly recognized in pediatric critical care population with evidence of vasogenic ...
Jayaraj Dhandabani - - 2012
Ellis-van Creveld (EVC) syndrome is an autosomal recessive disorder that is also known as chondro-ectodermal dysplasia. The common manifestations of this syndrome are short ribs, postaxial polydactyly, growth retardation, and ectodermal and cardiac defects. The present case report is about an 8-year-old boy who had the features of bilateral hexadactyly, ...
Zhu Yimin - - 2012
We report on a three-generation Chinese family presenting with a recognizable condition consisting of radio-ulnar synostosis, short stature, scoliosis, distinctive craniofacial features (thick vermilion to the lips, prominent eyes, and flat malar region), and a shortened and thickened femur neck. The inheritance of the trait was presumably autosomal dominant. The ...
Khan Awais M - - 2012
Primary care physicians (PCPs) may lack a basic understanding of myelodysplastic syndromes (MDS). Two case studies, presented to 44 internal medicine residents and outpatient attending internists, highlighted a potential knowledge gap. A differential diagnosis of MDS was overlooked in a 72-year-old man with several comorbidities and a hemoglobin level of ...
Dewachter L - - 2012
Milwaukee shoulder syndrome or rapid destructive arthropathy of the shoulder is a rare form of arthropathy that mainly affects elderly women. It is characterized by a rapid destruction of the glenohumeral joint and the rotator cuff and by an important noninflammatory joint effusion containing hydroxyapatite crystals. Radiography plays an important ...
Spaggiari Emmanuel - - 2012
Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally. It is caused by cytogenetic deletions or mutations of the TWIST1 gene. We report here a de novo prenatal case with clinically and molecularly well defined Saethre-Chotzen syndrome due to a TWIST1 deletion. This is the first reported case ...
De Francesco Sonia - - 2012
Purpose. To report the case of identical dichorionic diamniotic female twins with unilateral retinoblastoma in 13q deletion syndrome. Methods. Clinical and ophthalmoscopic evaluation, combination of multiple ligation-dependent probe amplification, array-comparative genomic hybridization analyses, and magnetic resonance imaging were performed. Results. Peculiar facial features, marked hypotonia, gastroesophageal reflux, interatrial septal defect ...
Rafati Maryam - - 2012
Williams-Beuren syndrome (WBS), a contiguous gene deletion syndrome, mostly occurs sporadically. Although a few cases of familial WBS have been reported in the literature, molecular confirmation of the deletion has not been carried out in all of them. Here, we report on the eighth clinically and molecularly confirmed inherited WBS ...
Valentino M - - 2012
The Sinding-Larsen-Johansson syndrome has a pathogenesis similar to that of the Osgood-Schlatter disorder and is the result of excessive force exerted by the patellar tendon on the lower pole of the patella. Clinically it is characterized by pain, which increases when the patellar is loaded during flexion, subpatellar swelling and ...
Tuţulan-Cuniţă Andreea Cristina - - 2012
22q11.2 deletion syndrome, the most common microdeletion syndrome, exhibits a broad range of phenotypes, implying a cumbersome diagnosis due to atypical or paucisymptomatic presentations. We present two atypical cases of 22q11.2 deletion syndrome and suggest a preferential occurrence of the breakpoints in regions poor in repetitive elements of SINE/Alu family.
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