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Manfield Laura - - 2013
Carpal tunnel syndrome is typically diagnosed from history and physical examination then confirmed with electrodiagnosis. Electrodiagnosis provides only limited anatomic information and evaluation of space-occupying lesions. The authors present two cases in which demonstrated flexor pollicis longus tenosynovitis coexistent with carpal tunnel syndrome was diagnosed with ultrasonography. Ultrasonography is an ...
Davis Lamar - - 2013
Carpal tunnel syndrome or median neuropathy at the wrist is a rare condition in children. Of the reported patients with carpal tunnel syndrome, mucopolysaccharidoses and the mucolipidoses are the most common causes. We report 13 patients between the ages of 2 and 17 years of age with carpal tunnel syndrome. Mucopolysaccharidoses ...
Amorim Simone - - 2013
Introduction: SPOAN syndrome (spastic paraplegia, optic atrophy, and neuropathy), is an autosomal recessive neurodegenerative disorder identified in a large consanguineous Brazilian family. Methods: 27 patients with SPOAN syndrome (20 women) aged 4 to 58 years underwent nerve conduction studies (NCS) of median, ulnar, tibial, and fibular nerves and sensory NCS ...
Potulska-Chromik Anna - - 2013
Carpal tunnel syndrome rarely occurs in children. We retrospectively analyzed clinical data of 11 patients aged 5-17 diagnosed with carpal tunnel syndrome at a single pediatric neuromuscular center. Nerve conduction studies were performed according to the American Association of Electrodiagnostic Medicine recommendations. Additional imaging tests of the wrist were performed ...
Abichandani Sagar - - 2013
The authors wished to evaluate the comprehensive literature on carpal tunnel syndrome to discover work specific to carpal tunnel syndrome among dentists in order to determine whether there is any correlation with dentists having a higher prevalence of its occurrence. A review of dental literature involving carpal tunnel syndrome was ...
Kantarci Fatih - - 2013
To measure the median nerve (MN) stiffness by quantitative shear wave elastography (SWE) at the carpal tunnel inlet and to determine whether SWE can be used in the diagnosis of carpal tunnel syndrome (CTS). The study included 37 consecutive patients (60 wrists) with a definitive diagnosis of CTS and 18 ...
Malik Sajid S Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, - - 2013
Ulnar hypoplasia is a rare longitudinal limb deficiency in which the ulna shows various degrees of deficiency. The condition is normally associated with radial defects, and in severe cases there is a reduction of postaxial/ulnar digits. Ulnar deficiency is an integral part of several syndromic malformations like Weyer's oligodactyly syndrome, ...
John Jomol Sara JS Department of Paediatrics, Aarupadai Veedu Medical College, Puducherry, - - 2013
Moebius syndrome is a rare congenital neurological disorder. The most frequent mode of presentation is facial diplegia with bilateral lateral rectus palsy, but there are variations. Here, we report a rare case of Moebius syndrome in a 15-month-old child with unilateral facial palsy, bilateral abducens nerve palsy with Dandy Walker ...
Kanat Ayhan - - 2013
Cubital tunnel syndrome (CuTS) is the second most common compression neuropathy in the arm, but the existence of a compressive cause has not been determined conclusively and the majority of the cases are idiopathic. In this paper, involvement sides of limbs of patients with cubital tunnel syndrome were studied. Between ...
Acar Nazire Pınar - - 2013
Diabetic uremic syndrome (DUS) is an increasingly reported acute neurometabolic cerebral disease with characteristic clinical and imaging features. Clinical spectrum includes a wide range of movement disorders such as acute parkinsonism. Imaging studies show reversible (with hemodialysis) bilateral lesions in the lenticular nuclei. DUS pathophysiology has not been entirely clarified ...
Robinson Karyn G - - 2013
The Escobar variant of multiple pterygium syndrome (OMIM #265000) is a rare, autosomal recessive disorder associated with mutations in the γ-subunit of the nicotinic acetylcholine receptor (CHRNG). CHRNG is expressed in fetal muscle during motor development and contributes to the formation of neuromuscular junctions (NMJs). Anomalies in NMJ structure and ...
Khan Anupam Kaur Rehan - - 2013
3p deletion is a rare cytogenetic finding. Here we describe a 3 months old male with congenital malformations. His karyotype revealed 3p deletion 46,XY,del(3)(p25-pter). The child had flexion deformity of wrist and elbow which has never been reported before.
Mohassel Payam - - 2013
The anterior spinal artery syndrome (ASAS), described by Preobraschenski in 1908,(1) is characterized by bilateral spastic paraparesis and dissociated sensory deficits involving bilateral loss of temperature and pain sensation but preserved proprioception and touch. The ASAS typically develops acutely, over minutes to hours. While initially linked to infections, in particular ...
Knutsen Elisa J - - 2013
Hand surgeons routinely treat carpal and cubital tunnel syndromes, which are the most common upper extremity nerve compression syndromes. However, more infrequent nerve compression syndromes of the upper extremity may be encountered. Because they are unusual, the diagnosis of these nerve compression syndromes is often missed or delayed. This article ...
Charlesworth Gavin G Department of Molecular Neuroscience, UCL Institute of Neurology, London, - - 2013
The dystonias are a common but complex group of disorders that show considerable variation in cause and clinical presentation. The purpose of this review is to highlight the most important discoveries and insights from across the field over the period of the past 18 months. Five new genes for primary ...
Soltani Ali M - - 2013
Recurrent or persistent compression neuropathies of the upper extremity, including carpal and cubital tunnel syndrome, present a difficult treatment challenge to the hand or peripheral nerve surgeon. Collagen conduits have been used successfully for decades in nerve injury repair, but have not been studied in the treatment of compression neuropathy. ...
Mlakar Maja - - 2013
Background:Based on the literature, patients with carpal tunnel syndrome are suggested to wear a custom-made wrist orthosis immobilizing the wrist in a neutral position. Many prefabricated orthoses are available on the market, but the majority of those do not assure neutral wrist position.Objectives:We hypothesized that the use of orthosis affects ...
Fung Victor S C VS Movement Disorders Unit, Department of Neurology, Westmead Hospital and Sydney Medical School, University of Sydney, Sydney, Australia. - - 2013
The clinical evaluation of a patient with dystonia is a stepwise process, beginning with classification of the phenomenology of the movement disorder(s), then formulation of the dystonia syndrome, which, in turn, leads to a targeted etiological differential diagnosis. In recent years, there have been significant advances in our understanding of ...
Granata G - - 2013
OBJECTIVE: This study aims to investigate the involvement of the peripheral nervous system in Ehlers-Danlos syndromes/hypermobility type patients with particular attention to entrapment syndromes. METHODS: We consecutively enrolled Ehlers-Danlos syndromes/hypermobility type patients. Patients underwent clinical, neurophysiological and ultrasound evaluations. Dynamic ultrasound evaluation was also performed in healthy subjects as control ...
Lee Benjamin C BC Department of Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, MA 02118, - - 2013
Enterohemorrhagic Escherichia coli (EHEC) produce ribosome-inactivating Shiga toxins (Stx1, Stx2) responsible for development of hemolytic uremic syndrome (HUS) and acute kidney injury (AKI). Some patients show complement activation during EHEC infection, raising the possibility of therapeutic targeting of complement for relief. Our juvenile nonhuman primate (Papio baboons) models of endotoxin-free ...
Kaeser Pierre-François - - 2013
Based on neuroimaging data showing absence of the trochlear nerve, congenital superior oblique palsy is now classified as a congenital cranial dysinnervation disorder. A similar absence of the abducens nerve is accompanied by misinnervation to the lateral rectus muscle from a branch of oculomotor nerve in the Duane retraction syndrome. ...
Chakrabarti Debaprasad - - 2013
Bilateral facial paralysis is a rare clinical entity and presents as a diagnostic challenge. Unlike its unilateral counterpart facial diplegia is seldom secondary to Bell's palsy. Occurring at a frequency of 0.3% to 2% of all facial palsies it often indicates ominous medical conditions. Guillian-Barre syndrome needs to be considered ...
Borodic Gary E - - 2013
Parry-Romberg syndrome is a rare condition characterized by progressive, hemifacial atrophy, hair loss, enophthalmos, retinal vasculopathy occasionally associated with hemicranial pain syndrome (secondary trigeminal neuralgia). The cause of the condition is unknown; however, substantial evidence suggests that vasculopathy plays a significant role in the genesis of the neurologic damage and ...
Meek Marcel F - - 2013
Abstract A 76-year-old woman developed right carpal tunnel syndrome after being conservatively treated for tenosynovitis of the flexor tendons with associated mild carpal tunnel syndrome. A magnetic resonance imaging scan showed a tumour in the carpal tunnel. Re-exploration showed that the median nerve was being compressed by a giant cell ...
Rodner Craig M - - 2013
Dysfunction of the median nerve at the elbow or proximal forearm can characterize two distinct clinical entities: pronator syndrome (PS) or anterior interosseous nerve (AIN) syndrome. PS is characterized by vague volar forearm pain, with median nerve paresthesias and minimal motor findings. AIN syndrome is a pure motor palsy of ...
Oyola Sonia - - 2013
An easy-to-administer modification of the traditional Phalen's test for carpal tunnel syndrome increases the value of this diagnostic tool.
Park Il-Jung - - 2013
Abstract The aetiology of anterior interosseous nerve (AIN) syndrome and an optimal treatment strategy remain controversial. Eleven patients with spontaneous AIN syndrome, who were treated by surgical exploration, were reviewed at a mean of 32.5 months after the operation. Eight men and three women were included in the study. None ...
Ochi Kensuke - - 2013
Abstract Extraneural pressure in the cubital tunnel is considered to be a major pathophysiological factor for cubital tunnel syndrome. Thus, it has been hypothesised that the higher extraneural pressure in the cubital tunnel should result in a more severe stage of cubital tunnel syndrome. Extraneural pressures in cubital tunnel at ...
Vertigan Anne E - - 2013
BACKGROUND AND OBJECTIVE: Diseases associated with laryngeal dysfunction include chronic refractory cough (CRC), paradoxical vocal fold movement (PVFM), muscle tension dysphonia (MTD) and globus pharyngeus. We hypothesised the presence of a common sensory laryngeal dysfunction, the 'laryngeal hypersensitivity' syndrome, in these conditions. The aim of the study was to compare ...
Al-Qattan Mohammad M - - 2013
Liebenberg Syndrome (MIM 186550) is a very rare autosomal dominant condition characterized by three main features: dysplasia of all of the bony components of the elbow joint, abnormalities in the shape of carpal bones, and brachydactyly. In this paper, we report a Saudi Arabian family with Liebenberg syndrome. Comparative genomic ...
Zoltowska Katarzyna - - 2013
Mutations in GFPT1 underlie a congenital myasthenic syndrome characterised by a limb-girdle pattern of muscle weakness. Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is a key rate-limiting enzyme in the hexosamine biosynthetic pathway providing building blocks for the glycosylation of proteins and lipids. It is expressed ubiquitously and it is not readily apparent ...
Khlebtovsky Alexander - - 2013
Bilateral facial nerve palsy or facial diplegia is a rare condition that occurs mainly in the context of Guillain-Barré syndrome. Its natural history has never been studied. We report four patients with isolated idiopathic bilateral facial nerve palsy with meningitis, no evidence of Guillain-Barré syndrome and rapid and complete recovery. ...
Bagatur A Erdem - - 2013
Carpal tunnel syndrome can be secondary in some patients, and vascular anomalies (usually a persistent median artery), median nerve variations, or both are among the etiologic factors. High division of the median nerve proximal to the carpal tunnel (known as a bifid median nerve) is a median nerve anomaly that ...
Li Zong-Ming ZM Hand Research Laboratory, Department of Biomedical Engineering, Cleveland Clinic, Cleveland, OH 44195, USA. - - 2013
Carpal tunnel morphology plays an essential role in the etiology and treatment of carpal tunnel syndrome. The purpose of this study was to observe the morphological changes of the carpal tunnel as a result of carpal arch width narrowing. It was hypothesized that carpal arch width narrowing would result in ...
Onuma Kenji - - 2013
Gouty tophi are an uncommon cause of carpal tunnel syndrome. We describe a case of bilateral carpal tunnel syndrome due to gouty tophi. Gouty tophi in the right wrist developed slowly, but developed acutely in flexor tendons in the left wrist. Symptoms were numbness and finger movement dysfunction in both ...
Danoff J R - - 2013
In patients with severe thenar atrophy secondary to carpal tunnel syndrome, we hypothesize that following open carpal tunnel release, concomitant transfer of the abductor pollicis brevis (APB) origin to the flexor carpi radialis (FCR) tendon will lead to improved patient function restoring palmar abduction and thumb opposition. We evaluated 14 ...
Acioly Marcus André - - 2013
Carpal tunnel syndrome (CTS) is a common peripheral entrapment neuropathy that is caused by increased pressure within the carpal tunnel resulting in a chronic process of median nerve ischemia and segmental demyelination. We report on a patient with bilateral patent persistent median artery (PMA) affected by typical symptomatic CTS who ...
Connors Robert - - 2013
We describe a patient with complete, bilateral horizontal gaze palsies and facial diplegia caused by a midline tegmental pontine hemorrhage. The term "16 syndrome" (7 + 7 + ½ + ½ + ½ + ½ = 16) describes this combination of clinical findings.
Malik Sajid - - 2013
Congenital transverse limb anomalies are rare, which affect upper and/or lower limbs and may accompany several syndromic malformations. We present a sporadic male subject with congenital, unilateral transverse arrest of the left hand. The affected arm was observed to be short with reduced zeugopod and truncated palm. Fingers were represented ...
Courjon Johan - - 2013
BACKGROUND:: Staphylococcal scalded skin syndrome and toxic shock syndrome are associated with exfoliatins and superantigens, respectively; and are easy to distinguish in their usual presentation. However, there is confusion about the mild forms of these two staphylococcal diseases. These mild forms are both designated as "staphylococcal scarlet fever" despite differences ...
Puiu Ileana - - 2013
Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital disorder, characterized by capillary, venous and lymphatic vascular malformations in association with bone and soft tissue hypertrophy. We report a KTWS patient with extensive hemangiomatosis of the right lower limb, trunk and upper limbs; bone and soft tissue hypertrophy of upper limbs, scapular ...
Leclère Franck Marie P - - 2013
BACKGROUND: Besides carpal tunnel and cubital tunnel syndrome, other nerve compression or constriction syndromes exist at the upper extremity. This study was performed to evaluate and summarize our initial experience with endoscopically assisted decompression. MATERIALS AND METHODS: Between January 2011 and March 2012, six patients were endoscopically operated for rare ...
Kojovic Maja - - 2013
The syndrome of deafness-dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features of a disease. Known genetic causes include Mohr-Tranebjaerg syndrome, Woodhouse-Sakati syndrome, and mitochondrial disorders, but the cause frequently remains unidentified. The aim of the current study was to better ...
Cossins Judith J Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford OX3 9DS, UK. - - 2013
Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. We performed linkage analysis, whole-exome and whole-genome sequencing to determine the underlying defect in patients with an inherited limb-girdle pattern of myasthenic weakness. ...
Ciccoto Giuseppe - - 2013
Recognizing stiff person syndrome is clinically important. It is uncommon, characterized by body stiffness associated with painful muscle spasms, and varies in location and severity. It is subdivided into stiff trunk versus stiff limb presentation, and as a progressive encephalomyelitis. Stiff person-type syndrome also reflects a paraneoplastic picture. Most patients ...
Pierson Tyler Mark - - 2013
[This corrects the article on p. e1002325 in vol. 7.].
García Maldonado César - - 2013
Median nerve entrapment at the wrist level causes carpal tunnel syndrome (CTS). Although frequent in adults, CTS is a rare entity in children. Bouvier described an exceptional necrotic variant in 1979 in which skin, nail, and bone lesions are typical. We report the case of a 10-year-old child with necrotic ...
McBride Jennifer - - 2013
Patients with alien hand syndrome (AHS) experience making apparently deliberate and purposeful movements with their hand against their will. However, the mechanisms contributing to these involuntary actions remain poorly understood. Here, we describe two experimental investigations in a patient with corticobasal syndrome (CBS) with alien hand behaviour in her right ...
Yesilada A K - - 2013
Macrodystrophia lipomatosa (MDL) is a rare, congenital, developmental anomaly causing localized overgrowth of a digit(s) or extremity. Trigger wrist is a relatively rare entity, which may be caused by a mass originating from a tendon, an anomalous muscle or intracarpal pathologies. A 42-year-old male patient presented with triggering during active ...
Nakajima Nobuhito - - 2013
We present the case of a 40-year-old woman who experienced dysarthria and, numbness in her upper extremities and posterior region of her neck. Upon admission to our hospital, neurological examination revealed rhinolalia aperta and an incomplete palatoplegia; however, muscle strength in the neck and limbs was satisfactorily preserved, tendon reflexes ...
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