Search Results
Results 1 - 50 of 354
1 2 3 4 5 6 7 8 >
Leu Severina S Department of Neuroradiology, University Hospital of Zurich, Rämistrasse 100, 8091, Zürich, Switzerland, - - 2014
Langer-Giedion syndrome (LGS) is a rare disease caused by deletion of chromosome 8q23.3-q24.11. Clinical manifestations include among others multiple exostoses, short stature, intellectual disability, and typical facial dysmorphism. Dural arterio-venous shunts (DAVS) in the pediatric age are rare lesions, which have been classified into three types: dural sinus malformations (DSM), ...
Barroso Eva E Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, - - 2014
Craniosynostosis, caused by the premature fusion of one or more of the cranial sutures, can be classified into nonsyndromic or syndromic and by which sutures are affected. It affects 1 in 2,000-2,500 children [Boulet et al., 2008]. Several craniosynostosis syndromes are associated with malformations of the digits, including craniosynostosis Philadelphia ...
Imperato Pascal James PJ School of Public Health, Downstate Medical Center, State University of New York, MSC 43, 450 Clarkson Avenue, Brooklyn, NY, 11203, USA, - - 2014
Waardenburg syndrome (WS) is a genetic disorder of which there are four distinct types. These four types are differentiated by the physical defects which they produce. Presented here is the case of a 13-year-old boy with WS Type I who was observed and physically assessed in Mali, West Africa in ...
Himoto Takashi T Department of Medical Technology, Kagawa Prefectural University of Health - - 2014
A 55-year-old woman was admitted to our hospital with acute hepatitis of unknown origin. She had a history of incomplete-type CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome and chronic thyroiditis approximately 10 years earlier. Although she achieved spontaneous remission without treatment, she was re-admitted 18 months later ...
Kallini Joseph R - - 2014
In this article, we present a 25-year-old man who developed an asymptomatic schwannoma on his left lateral heel and review the salient features of this cutaneous condition. A schwannoma is a slowly growing neoplasm of Schwann cell origin. Histology shows high cellularity (Antoni A regions), nuclear palisades (Verocay bodies), and ...
Almuhtaseb Sanaa S Institute of Sport Science and Sport, University of Erlangen-Nuremberg, Erlangen, - - 2014
Gait is a functionally highly relevant aspect of motor performance. In the general population poorer gait increases the risk of falls and is a predictor for future disability, cognitive impairment, institutionalization and/or mortality. People with intellectual disabilities (ID) show a delayed motor development, which brings to attention the abnormalities that ...
Singh Harkanwal Preet HP Senior Lecturer, Department of Oral Pathology and Microbiology, Dasmesh Institute of Research and Dental Sciences , Faridkot, Punjab, India - - 2014
WHO has recently renamed odontogenic keratocyst as keratocystic odontogenic tumour (KCOT) depending on its tumour like behaviour. To quantitate and qualitate different types of collagen fibers in KCOT using picrosirius red stain under polarising microscopy and to correlate with different radiographic patterns of KCOT to elucidate its biological behaviour in ...
Salami Firooz F Department of Electronics, Information and Bioengineering, Luigi Divieti Laboratory, Politecnico di Milano, Milan, Italy. Electronic address: - - 2014
The aim of this study is analyzing the differences between plane walking and stepping over an obstacle for two groups of healthy people and people with Down syndrome and then, evaluating the movement efficiency between the groups by comprising of their mechanical energy exchanges. 39 adults including two groups of ...
Lim Dbn D Section of Child Health, School of Medicine, University of Glasgow, Glasgow, G12 - - 2014
Girls with Turner syndrome are prone to cholesteatoma, a serious suppurative middle ear disease. We aimed to confirm its high prevalence in Turner syndrome, identify risk factors and suggest possible strategies for earlier detection. We reviewed 179 girls with Turner syndrome between 1989 and 2012 to identify cases of cholesteatoma. ...
Sharma Jagannath J 1Infantry Training Centre, Catterick Garrison, United Kingdom 2School of Social Sciences and Law, Teesside University, United Kingdom 3Health and Social Care Institute, Teesside University, United - - 2014
Gait retraining, comprising bio-feedback and/or an exercise intervention, might reduce the risk of musculoskeletal conditions. The purpose was to examine the effect of a gait retraining program on medial tibial stress syndrome incidence during a 26 week basic military training regimen. A total of 450 British Army recruits volunteered. On ...
Moutsopoulos Haralampos M HM Department of Pathophysiology, School of Medicine, National University, 75, M. Asias St, 11527 Athens, Greece. Electronic address: - - 2014
My long scientific journey studying as a disease model Sjogren's syndrome (SS) gave me the opportunity to uncover the mysteries of systemic autoimmune diseases. After an extensive training, under the supervision of the major autoimmune disease investigators, I was able to convey and expand the acquired knowledge through inspiring my ...
Lepri Francesca Romana - - 2014
Noonan syndrome is an autosomal dominant developmental disorder with a high phenotypic variability, which shares clinical features with other rare conditions, including LEOPARD syndrome, cardiofaciocutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. This group of related disorders, so-called RASopathies, is caused by germline mutations in distinct genes ...
Carfagno David G DG 1Scottsdale Sports Medicine Institute, Scottsdale, AZ; and 2Arizona College of Osteopathic Medicine, Midwestern - - 2014
Competitive athletes are pushed routinely to the limits of their physical abilities. When tempered with periods of rest and recovery, a highly demanding training schedule can have tremendous benefits. However when an athlete is pushed too far, overtraining syndrome (OTS) can develop and result in career-ending damage. Overreaching and overtraining ...
Isaias Ioannis Ugo IU Department of Neurology, University Hospital Würzburg, Würzburg, Germany; Department of Pathophysiology and Transplantation, LAMB Pierfranco & Luisa Mariani, University of Milan, Milan, - - 2014
Rett syndrome is an X-linked neurodevelopmental condition mainly characterized by loss of spoken language and a regression of purposeful hand use, with the development of distinctive hand stereotypies, and gait abnormalities. Gait initiation is the transition from quiet stance to steady-state condition of walking. The associated motor program seems to ...
Razavi Seyed Mansour SM 1. MD, Professor of Infectious Diseases, Department of Community Medicine, Tehran University of Medical Sciences, Tehran, Iran. - - 2014
Background Respiratory diseases/syndromes are the most common causes of referring to physicians among pilgrims in Hajj. They lead to high morbidity, impose high costs on the health system and are among the major obstacles for pilgrims to perform Hajj duties. The main aim of our study was to determine types, ...
I┼čikay Sedat S Department of Pediatric Neurology, Gaziantep Children's Hospital, Gaziantep, - - 2014
Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. We present a case of a 3-year-old girl diagnosed with cerebellar involvement of Griscelli syndrome type 2. Neurological complications may accompany Griscelli syndrome, however, to the best of my knowledge there are only a few case reports of ...
Damert Hans-Georg - - 2013
Anterior interosseous nerve syndrome (Nevin-Kiloh syndrome) is a rare entity caused by compression of the purely motor anterior interosseous nerve in the forearm. Historically, conventional surgical treatment has consisted of open decompression of the nerve. Unfortunately, open decompression is often complicated by scarring and significant morbidity. Endoscopic decompression is an ...
Oudman Erik - - 2013
Patients with Korsakoff's syndrome show devastating amnesia and executive deficits. Consequently, the ability to perform instrumental activities such as making coffee is frequently diminished. It is currently unknown whether patients with Korsakoff's syndrome are able to (re)learn instrumental activities. A good candidate for an effective teaching technique in Korsakoff's syndrome ...
Pagnoni Mario - - 2013
Craniosynostosis, both isolated and syndromic, are challenging malformations for the craniofacial team. They present the team with an articulated cascade of choices, which need to be addressed early in life and in the growing age to intercept, remove, or correct the direct and indirect consequences of the malformation. Timing of ...
Wiskow Katie M - - 2013
Previous research has shown habit reversal training (HRT) to be effective in reducing tics. In some studies, tics have been reduced by implementing only a few components of HRT. The current study investigated the first step, awareness training, for treating tics in a young boy with Asperger syndrome, Tourette syndrome, ...
Bathen Trine - - 2013
Ehlers-Danlos Syndrome hypermobility type (EDS-HT) and joint hypermobility syndrome (JHS) are two overlapping heritable connective tissue disorders. Patients with these conditions have many and various complaints; limitations in performing daily activities, reduced muscle strength and proprioception, kinesiophobia, and pain. There is a lack of evidence-based treatment approaches; a few studies ...
Badoe E V - - 2013
Pfeiffer syndrome is rare in the African population and there are few if any published reports from West Africa. To report on two cases of Pfeiffer syndrome Type 3 and summarize the clinical characteristics. All suspected but undiagnosed genetic syndromes presenting to the Children's Department over a 10-year period were ...
Muensterer Oliver J - - 2013
The story of Ellis-van Creveld syndrome is one of serendipity. By chance, Simon van Creveld and Richard Ellis purportedly met on a train and combined their independently encountered patients with short stature, dental anomalies and polydactyly into one landmark publication in 1940. They included a patient used in work published ...
Stuart Charles A - - 2013
INTRODUCTION: Insulin resistance in obesity is decreased after successful diet and exercise. Aerobic exercise training alone was evaluated as an intervention in subjects with the metabolic syndrome. METHODS: Eighteen non-diabetic, sedentary subjects, eleven with the metabolic syndrome, participated in eight weeks of increasing intensity stationary cycle training. RESULTS: Cycle training ...
Romano D - - 2013
Disruption of motor control in the alien hand syndrome might result from a dissociation between intentions and sensory information. We hypothesized that voluntary motor control in this condition could improve by restoring the congruency between motor intentions and visual feedback. The present study shows that, in one patient with right ...
Marques-Aleixo Inês - - 2013
This study examined the differences in intracycle velocity variation and arm coordination in front crawl in swimmers with Down syndrome in three breathing conditions. International swimmers with Down syndrome (N = 16) performed 3 × 20 m front crawl at 50 m race speed: without breathing, breathing to the preferred ...
Conceição Miguel Soares - - 2013
The postmenopausal phase has been considered an aggravating factor for developing metabolic syndrome. Notwithstanding, no studies have as yet investigated the effects of resistance training on metabolic syndrome in postmenopausal women. Thus, the purpose of this study was to verify whether resistance training could reduce the risk of metabolic syndrome ...
Sardaru D D Faculty of Medicine, University of Medicine and Pharmacy Grigore T. Popa, - - 2013
Facial paralysis, in the form of Bell's syndrome, is an acute paralysis of idiopathic origin. Disability in patients with this medical condition is the result of impairment or loss of complex and multidimensional functions of the face like emotion expression through facial mimics, facial identity and communication. This study aimed ...
Guido Laura de Azevedo - - 2012
The multiprofessional residency programs seek to break paradigms regarding the education and training of professionals for the Unified Health System (Sistema Único de Saúde - SUS) and contribute to qualify health services by promoting innovative strategies. However, specific features of these programs can add stress to residents and lead to ...
Rickards Hugh E - - 2012
The European Society for the Study of Tourette syndrome (ESSTS) was established in Denmark in 2000 by Mary Robertson and Anne Korsgaard. The aims of the organisation are to foster research activity and raise awareness of Tourette syndrome throughout Europe. The organisation went into abeyance in 2002 but was resurrected ...
Stevenson David A - - 2012
Introduction: RASopathies are a group of genetic conditions due to alterations of the Ras/MAPK pathway. Neurocutaneous findings are hallmark features of the RASopathies, but musculoskeletal abnormalities are also frequent. The objective was to evaluate handgrip strength in the RASopathies. Methods: Individuals with RASopathies (e.g., Noonan syndrome, Costello syndrome, cardio-facio-cutaneous [CFC] ...
Koike Haruki - - 2012
Although autonomic neuropathy may occur as a secondary consequence of various diseases, other patients without any obvious underlying diseases show profound autonomic dysfunctions from the early phase of the disease. These idiopathic or primary cases are divided into pure autonomic neuropathy, autonomic neuropathy with sensory impairment, and autonomic neuropathy with ...
Plaikner M - - 2012
Purpose: Snapping ulnar nerve syndrome (dislocation of the ulnar nerve over the medial epicondyle) is one of many causes of ulnar neuropathy at the elbow. This preliminary study was performed to search for sonographic signs suggesting the presence of this condition.Methods and Materials: We retrospectively investigated 11 patients with snapping ...
Chan Yee-Cheun - - 2012
Pathophysiologically, Guillain-Barré syndrome is divided into demyelinating and axonal subtypes. Recent studies have shown that serial nerve conduction studies (NCSs) are required to differentiate a demyelination-remyelination pathophysiology from one with axonal nodal reversible conduction failure. Cases with an overlap of pharyngeal-cervical-brachial weakness and Fisher syndrome (PCB/FS) are uncommon; the NCS ...
Kikinis Z - - 2012
Individuals with 22q11.2 deletion syndrome (22q11.2DS) evince a 30% incidence of schizophrenia. We compared the white matter (WM) of 22q11.2DS patients without schizophrenia to a group of matched healthy controls using Tract-Based-Spatial-Statistics (TBSS). We found localized reduction of Fractional Anisotropy (FA) and Axial Diffusivity (AD; measure of axonal integrity) in ...
Lin Jainn-Jim - - 2012
Guillain-Barré syndrome is characterized by acute progressive weakness, areflexia, and maximal motor disability that occur within 4 weeks of onset. Various clinical subtypes have been described since the original description of the syndrome. This study aimed to identify characteristics of clinical variants of Guillain-Barré syndrome through retrospective review of cases ...
Jankauskien─Ś Augustina - - 2012
Congenital facial nerve palsy (CFNP) is a rare condition that can be generally categorized as developmental or traumatic. Though trauma during birth is the most common cause, sometimes CFNP is observed in association with genetic syndromes and congenital hearing loss and structural anomalies of the middle and inner ear. CFNP ...
Fauchais Anne-Laure - - 2012
Primary Sjögren's syndrome (pSS) is an autoimmune inflammatory disorder characterized by lymphocytic infiltration of exocrine glands, mainly the lacrimal and salivary glands leading to a chronic sicca syndrome. However, extraglandular organ systems may frequently be involved, including both central and peripheral nervous systems. Clinically significant neurologic manifestations affect approximately 20% ...
Losito Luciana - - 2012
The diagnosis of Moebius syndrome, a rare congenital disorder, is primarily based on congenital facial and abducent nerve palsy. Involvement of other cranial nerves is also common. Occasionally the V, X, XI, and XII cranial nerves are involved, resulting in a difficulty to chew, swallow, and cough, which often leads ...
Walusinski O - - 2012
Augustin Morvan (1819-1897) was a contemporary of Jean-Martin Charcot who practised medicine in rural Brittany. A perspicacious and astute clinician, he described three clinical pictures not previously isolated: in 1875 the semiology of myxoedema, in 1883 the neurological semiology of syringomyelia which he called "paretic analgesia of the upper extremities", ...
Baig Fahd - - 2012
This article reviews the main diagnostic, epidemiological and therapeutic issues relating to the three main inflammatory neuropathies: Guillain-Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy and multifocal motor neuropathy. The current knowledge base and recent developments are described.
Prommer Eric - - 2012
: There has been increased recognition of calcineurin, a phosphoprotein serine/threonine phosphatase enzyme, in the regulation of many physiologic systems. Calcineurin mediates activation of lymphocytes, which play a role in immune response. Widely distributed in the central nervous system, calcinuerin also plays an important role in sensory neural function, via ...
Babtain Fawzi A - - 2012
Ramsay Hunt syndrome is an infection of the head and neck caused by varicella zoster virus involving the facial nerve; less commonly, other cranial nerves might be involved. We report a case of Ramsay Hunt syndrome in an immune compromised patient, with classic facial nerve palsy and ipsilateral ear vesicles, ...
Tjoumakaris Fotios P - - 2012
Neuralgic amyotrophy (Parsonage-Turner syndrome or brachial plexus neuritis) is an uncommon syndrome whose cause is unknown. The suprascapular and axillary nerves and corresponding muscles are affected most frequently. The disorder exhibits a broad range of clinical manifestations, and patients frequently present to physicians of different subspecialties. Accurate diagnosis can be ...
Borgia Anthony V - - 2012
Upton and McComas first described double crush syndrome in 1973. The theory behind double crush syndrome postulated that a proximal lesion in a nerve would make that same nerve more vulnerable to additional distal lesions. Many of the studies investigating the possibility of the double crush syndrome involve lesions in ...
Monwarul Islam A K M - - 2012
Ortner syndrome or cardiovocal syndrome is a rare condition characterized by hoarseness of voice associated with cardiovascular pathology. Compression of the left recurrent laryngeal nerve by the pulmonary artery or left atrium is usually responsible. Recurrent aspiration pneumonia may cause significant morbidity and mortality. Early recognition and treatment along with ...
Tlili Asma - - 2012
Down syndrome or trisomy 21 is the most common genetic disorder leading to mental retardation. One feature is impaired short- and long-term spatial memory, which has been linked to altered brain-derived neurotrophic factor (BDNF) levels. Mouse models of Down syndrome have been used to assess neurotrophin levels, and reduced BDNF ...
Ferrante Mark A - - 2012
The term thoracic outlet syndrome (TOS) refers to a heterogeneous group of disorders, all of which have in common compression of one or more neurovascular elements at some point within the thoracic outlet. Of the five disorders comprising this group, four have all of the features expected of a syndrome-a ...
Kokubun Norito - - 2012
Guillain-Barré syndrome can present as demyelinating or axonal subtypes. Recent studies suggest that the neurophysiology of the axonal subtype not only exhibits axonal degeneration but can also show reversible conduction failure at the early stages. It is less certain if reversible conduction failure is evident in only a minority of ...
Manente G - - 2012
We studied the effect of the Manu(®) soft hand brace, which has been designed to relieve median nerve entrapment in carpal tunnel syndrome. An observational, controlled study was conducted in 10 participants, five with bilateral carpal tunnel syndrome and five controls, using sonography to study changes in the dimensions of ...
1 2 3 4 5 6 7 8 >