Results 221 to 230 of about 193,655 (286)

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

open access: yesClinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou   +3 more
wiley   +1 more source

Screening for brain‐related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screener

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
The Brain Involvement iN Dystrophinopathies (BIND) screener is an 18‐item questionnaire with strong reliability and validity for identifying potential brain‐related comorbidities in Duchenne muscular dystrophy. It allows rapid, cross‐age and cross‐country screening for both clinical and research purposes, demonstrating good sensitivity and specificity.
Ruben Miranda   +46 more
wiley   +1 more source

Land Reforms in Cuba: First Empirical Assessment on Productivity Using Crop‐Level Panel Data

open access: yesEconomics of Transition and Institutional Change, EarlyView.
ABSTRACT Land reforms implemented in Cuba since 2008 have aimed to increase agricultural production by distributing state‐owned idle lands with land‐use rights. The reforms restricted farmers with the rights from cultivating perennial and capital‐intensive crops.
Yoshihiko Hashiguchi   +1 more
wiley   +1 more source

Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC)

open access: yesEpilepsia, EarlyView.
Abstract Objective This randomized, double‐blind, phase 1b/2a clinical trial was designed to evaluate the safety, tolerability, and efficacy of oral bexicaserin versus placebo for the treatment of seizures in adolescents and adults with developmental and epileptic encephalopathies (DEEs).
Dennis J. Dlugos   +74 more
wiley   +1 more source

EEG functional connectivity as a marker of evolution from infantile epileptic spasms syndrome to Lennox–Gastaut syndrome

open access: yesEpilepsia, EarlyView.
Abstract Objective Timely diagnosis and effective treatment of Lennox–Gastaut syndrome (LGS) improve prognosis and lower health care costs, but the transition from infantile epileptic spasms syndrome (IESS) to LGS is highly variable and insidious. Objective biomarkers are needed to monitor this progression and guide clinical decision‐making. Methods We
Blanca Romero Milà   +11 more
wiley   +1 more source

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