Results 151 to 160 of about 73,057 (270)
Epilepsia, EarlyView.Abstract Objective Autoimmune encephalitis (AE) is characterized by inflammatory processes in the central nervous system and frequently presents with seizures. Even though an ictogenic potential has been shown for some antibodies against neuronal surface antigens (NSAbs), AE pathophysiology is complex, and NSAbs‐independent mechanisms are likely to ...
Sara Prevosti +14 more
wiley +1 more source
Clinical trajectories and medication response in TBC1D24‐related epilepsies
Epilepsia, EarlyView.Abstract Objective Biallelic variants in TBC1D24 represent a rare cause of epilepsy and neurodevelopmental disorders, including severe developmental and epileptic encephalopathies. Here, we present the first attempt to delineate the longitudinal disease histories and effectiveness of antiseizure medications (ASMs) in TBC1D24‐related disorders.
Ealing Mondragon +9 more
wiley +1 more source
Pediatric Sensorineural Hearing Loss [PDF]
Ear, Nose & Throat Journal, 2014 openaire +2 more sources
Periodontology 2000, EarlyView.Abstract Background The primary goal of periodontology is to prevent tooth loss and reduce the risk of focal infections. Periodontitis lesions can harbor hundreds of thousands of active cytomegaloviruses (virions), which can easily enter the systemic circulation and potentially infect the fetus of a mother with compromised immunity.
Jørgen Slots
wiley +1 more source
Experimental Physiology, EarlyView.Abstract Modulation of bone marrow adipose tissue (BMAT) with prolonged inactivity was reported in haemopoietic but not in non‐haemopoietic bones. This prospective randomized controlled trial submitted 16 men and 8 women to 60 days of 6° head‐down‐tilt bed rest.
Tammy Liu +5 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders affecting valine and isoleucine catabolism. Long‐term therapy mainly involves dietary protein restriction. An amino acid mixture (AAM, medical food) free of the precursor amino acids is frequently used, especially when protein intake does not reach World
Diane Margoses +19 more
wiley +1 more source
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity
Clinical Genetics, Volume 109, Issue 1, Page 176-180, January 2026.A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis +14 more
wiley +1 more source
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort
Clinical Genetics, Volume 109, Issue 1, Page 188-193, January 2026.This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca +13 more
wiley +1 more source
Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome
Clinical Genetics, Volume 109, Issue 1, Page 199-203, January 2026.Jones syndrome (JS) is an ultra‐rare condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been associated with a pathogenic REST exon‐5 variant (c.2670_2673del) in a Finnish family. We describe the first Italian family with JS in which a novel pathogenic REST exon‐5 variant (c.2645T>G) was identified ...
Valentina Lodato +15 more
wiley +1 more source
Sensorineural hearing loss in anti-interleukin-1 treated CAPS patients: risk factors and real-life barriers-an observational study. [PDF]
Rheumatology (Oxford)Satirer Ö +5 more
europepmc +1 more source