Results 171 to 180 of about 73,807 (258)

Association of red blood cell transfusions with periventricular leukomalacia in very preterm infants

open access: yesVox Sanguinis, EarlyView.
Abstract Background and Objectives Red blood cell (RBC) transfusions have been associated with retinopathy of prematurity (ROP) and adverse long‐term neurodevelopmental outcomes in very preterm infants. Although lower transfusion thresholds reduce the incidence of ROP, they have not improved neurological outcome. Periventricular leukomalacia (PVL) is a
Thomas Brune   +2 more
wiley   +1 more source

Psychotropic medication and the fetal brain

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Brain region changes linked to in‐utero psychotropic exposure. Abstract Medications known to cross the blood–brain barrier (psychotropic medications) are commonly prescribed to women during pregnancy, often for the management of mental illness.
Oliver Gale‐Grant, Tomoki Arichi
wiley   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 929-936, April 2026.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona   +15 more
wiley   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 937-946, April 2026.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 3, Page 205-211, April 2026.
ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone   +8 more
wiley   +1 more source

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