Results 141 to 150 of about 3,862,863 (318)

DiGeorge's Syndrome and Fetal Alcohol Syndrome

open access: yesArchives of Pediatrics & Adolescent Medicine, 1983
Sir.—Four patients with clinical and laboratory features of DiGeorge's syndrome with a history of maternal alcoholism were described by Ammann et al in the article "The DiGeorge Syndrome and the Fetal Alcohol Syndrome" (Journal1982;136:906-908). In the article (p 906), Ammann and colleagues stated, "Maternal alcoholism may result in the DiGeorge ...
openaire   +3 more sources

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye   +11 more
wiley   +1 more source

JUVENILE MYELOMONOCYTIC LEUKEMIA WITH TELOMERE SHORTENING: CASE REPORT

open access: yesEJC Paediatric Oncology, 2023
Anita Frisanco Oliveira   +3 more
doaj   +1 more source

When Guillain–Barré Syndrome Defies Expectations: A Case of Atypical Features

open access: yesIndian Journal of Medical Specialities
Guillain–Barré syndrome (GBS) is one of the most common causes of acute flaccid paralysis. In typical GBS, there are no central nervous system (CNS) features.
Ulma Khan   +5 more
doaj   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel   +8 more
wiley   +1 more source

Vogt–Koyanagi–Harada (VKH)—What Do We Know About the Disease, and Can We Recognize It?

open access: yesDiagnostics
Background: Vogt–Koyanagi–Harada (VKH) is a multisystem autoimmune disease that ophthalmologists often encounter first. The condition is caused by an immune response against tyrosinase-related proteins in pigment cells (melanocytes) of the uvea, inner ...
Maria Boyadzhieva   +5 more
doaj   +1 more source

Treatment of Electrical Storm with Amiodarone in Brugada Syndrome- an Unexpected Protective Effect

open access: yes, 2013
We are reporting on a 53 year old man with proven Brugada syndrome and ICD implantation for resuscitation in context of polymorphic VT. After recurrent arrhythmia he was treated with Amiodarone.
Novak, J, Lambiase, PD
core  

Variability in fricative production of young people with Down's syndrome : an EPG analysis [PDF]

open access: yes, 2007
Speech production in Down's syndrome is highly variable, with particular problems arising from complex articulations such as fricatives. In this paper, EPG analysis is used to study the variation in the production of the fricatives /s/ and /sh/ in 6 ...
Hardcastle, William   +6 more
core  

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende   +26 more
wiley   +1 more source

Implications of a local overproduction of tumor necrosis factor-α in complex regional pain syndrome

open access: yes, 2011
Objective. To review the implications of a local overproduction of tumor necrosis factor-α for the pathogenesis and treatment of complex regional pain syndrome. Background.
Walker, S., Drummond, P.D.
core  

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