Results 61 to 70 of about 47,561 (284)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley +1 more source
Response: Aortic Stiffness in Patients with Deep and Lobar Intracerebral Hemorrhage: Role of Antihypertensive Drugs and Statins [PDF]
Journal of Stroke, 2015 Maurizio Acampa +3 more
doaj +1 more source
Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders +11 more
wiley +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, EarlyView.Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel +10 more
wiley +1 more source
Sudden Sensorioneural Hearing Loss and Autoimmune Systemic Diseases
International Archives of Otorhinolaryngology, 2016 Introduction Several authors have demonstrated the relationship between sudden sensorineural hearing loss (SNHL) and systemic autoimmune diseases (SAD).
Bruno Almeida Antunes Rossini +4 more
doaj +1 more source
Annals of Neurology, EarlyView.Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker +79 more
wiley +1 more source
Perioperative stroke and hyperhomocysteinemia: a possible pathogenic link [PDF]
Korean Journal of Anesthesiology, 2018 Maurizio Acampa +2 more
doaj +1 more source
Revista da Sociedade Brasileira de Fonoaudiologia, 2009 OBJETIVO: Pesquisar o Índice Percentual de Reconhecimento de Fala (IPRF) no nível de máximo de conforto em adultos com perda auditiva neurossensorial de grau leve a moderadamente severo até 60 dB NA.
Zuleica Costa Zaboni +1 more
doaj +1 more source
Clinical Pharmacology in Drug Development, EarlyView.Abstract A modified controlled‐release sodium valproate formulation (VAL001, test) was compared with an approved enteric‐coated tablet formulation (Absenor, reference). Pharmacokinetics and safety/tolerability were evaluated in healthy subjects to bridge with positive efficacy results from an early‐phase patient trial of valproate in combination with ...
Nikhil Ahuja +8 more
wiley +1 more source
Upward Spread of Masking in Normal and Sensorineural Subjects [PDF]
, 1968 J. M. Pickett, Ellen S. Martin
openalex +1 more source