Results 61 to 70 of about 95,248 (189)

Mielinólise pontina central e extra-pontina em paciente alcoolista sem distúrbios hidro-eletrolíticos: relato de caso Central pontine and extra-pontine myelinolysis in an alcoholic patient without electrolyte disturbances: case report

Arquivos de Neuro-Psiquiatria, 2002
A mielinólise pontina central (MPC) e extra-pontina (MEP) é enfermidade desmielinizante do encéfalo associada principalmente com a correção rápida da hiponatremia, que se manifesta principalmente por tetraparesia espástica e paralisia pseudo-bulbar ...
Francisco Manoel B. Germiniani, Mauricio Roriz, Samir K. Nabhan, Helio A.G. Teive, Lineu C. Werneck   +4 more
doaj   +1 more source

Correlation Between Maximal Tongue Pressure and Swallowing Function in Spinal and Bulbar Muscular Atrophy

Frontiers in Neurology, 2021
Background: Spinal and bulbar muscular atrophy (SBMA) is an X-lined motor neuron disease characterized by progressive muscle weakness, bulbar palsy, and dysphagia.
Dae-Won Gwak, Seung-Hwan Jung, Yu-Sun Min, Jin-Sung Park, Hee-Jin Cho, Donghwi Park, Min Woo Hong, Min-Gu Kang   +7 more
doaj   +1 more source

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult‐Onset Primary Lateral Sclerosis‐Like Syndrome

Clinical Genetics, EarlyView.
A 43‐year‐old woman developed a progressive adult‐onset upper motor neuron syndrome fulfilling the clinical criteria for primary lateral sclerosis (PLS), with mild cerebellar involvement. Genetic testing identified a de novo ATP1A3 p.Arg995His variant affecting a highly conserved residue within the transmembrane M8 domain.
Pablo Hernandez‐Vitorique, Marta García de Burgos, Ana Campos Villegas, María José Gómez Heredia, Pilar Carbonell Corvillo   +4 more
wiley   +1 more source

The Spinal Muscular Atrophy Functional Classification System

Developmental Medicine &Child Neurology, EarlyView.
The Spinal Muscular Atrophy Functional Classification System (SMAFCS) is a new four‐level functional mobility classification for spinal muscular atrophy, derived from Hammersmith Functional Motor Scale Expanded (HFMSE) thresholds and Functional Mobility Scale (FMS) groupings.
Jason J. Howard, H. Kerr Graham, M. Wade Shrader, Mary Schroth, Manish Kumar, Sadettin Ciftci   +5 more
wiley   +1 more source

Lyme neuroborreliosis in a critically ill patient

The Journal of the International Society of Physical and Rehabilitation Medicine, 2020
Lyme neuroborreliosis (LNB) is a nervous system infection caused by the species of the spirochete Borrelia. A woman, with a history of right facial palsy, was admitted to the physical and rehabilitation medicine (PRM) unit for the rehabilitation of ...
Rui Alexandre Do Prado Costa, Maria João Castro Santos Pinto, José Rogério Bernardo Ruas, Nilza Carvalho Pinto   +3 more
doaj   +1 more source

Temporomandibular joint disorder and gross motor function in children with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To determine the prevalence of the clinical signs and symptoms of temporomandibular joint (TMJ) disorder (TMD) in children with cerebral palsy (CP) and to examine their associations with severity of gross motor impairment, CP subtype, and caregiver‐reported bruxism. Method This cross‐sectional study included 517 children with CP (mean age =
Özge Baykan Çopuroğlu, Baki Umut Tuğay, Muhammet Furkan Vatan   +2 more
wiley   +1 more source

West Nile Meningoencephalitis Presenting as Isolated Bulbar Palsy With Hypercapnic Respiratory Failure [PDF]

, 2016
BackgroundSince the outbreak of West Nile virus (WNV) in the United States in 1999, the WNV neuroinvasive disease has been increasingly reported with a wide spectrum of neuromuscular manifestations.CaseWe submit a case of a 46-year-old male with a ...
Kamangar, Nader, Springer, Joseph, Tso, Geoffrey, Kaldas, Kirsten, Barot, Nikhil   +4 more
core   +1 more source

Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia

Developmental Medicine &Child Neurology, EarlyView.
Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia. Abstract The presence of a small optic disc on funduscopy is prerequisite for the diagnosis of optic nerve hypoplasia (ONH). Visual acuity may be normal. However, amblyopia can occur in ONH. A relative afferent pupillary light defect indicates unilateral or asymmetrical ONH.
Michael S. Salman
wiley   +1 more source

Orthotic management of cerebral palsy : recommendations from a consensus conference [PDF]

, 2011
An international multidisciplinary group of healthcare professionals and researchers participated in a consensus conference on the management of cerebral palsy, convened by the International Society for Prosthetics and Orthotics.
Stevens, P., Bowers, R., Phillips, D., Ross, Karyn, Morris, C.   +4 more
core   +3 more sources

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source