Results 151 to 160 of about 77,935 (264)

Extensive Osmotic Demyelination Syndrome With a Concomitant Cytotoxic Lesion of the Corpus Callosum in Hyperemesis Gravidarum: A Case Report. [PDF]

Cureus
Abouchiba S, El Bouardi N, Ouazzani H, Chaouche I, Akammar A, Haloua M, Alami B, Lamrani Y, Boubbou M, Maaroufi M.   +9 more
europepmc   +1 more source

Regional Brain Volume Differences Were Associated With Behavioural Outcomes in Children Born Preterm: A Systematic Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim This systematic review explored associations between brain structural volumes and behavioural outcomes in children born preterm up to 32 weeks of gestation. Methods PubMed, PsycINFO, Scopus and Web of Science were searched for papers published in English from 1 January 2013 to 7 November 2023.
Yolanda Marín Almagro, Macarena Román Ruiz, Natalia Jiménez Luque, Manuel Lubián Gutiérrez, Simón P. Lubián López, Isabel Benavente Fernández   +5 more
wiley   +1 more source

Conditional Knockout of Paxillin in Mouse Cortical Pyramidal Neurons Does Not Impair Axon Outgrowth or Corpus Callosum Size. [PDF]

FASEB Bioadv
Rygel K, Gillespie K, Welshhans K.
europepmc   +1 more source

Challenges in Diagnosing Central Adrenal Insufficiency in Children: Cortisol‐Stimulating Tests are Safe and Often Required

Clinical Endocrinology, EarlyView.
ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah, Ana Carolina Maia Teodózio, Davi Casale Aragon, Paula Conde Lamparelli Elias, Margaret de Castro, Ayrton Custodio Moreira, Sonir Rauber Antonini   +6 more
wiley   +1 more source

Marchiafava-Bignami disease mimicking acute corpus callosum infarction associated with chronic shochu consumption. [PDF]

Surg Neurol Int
Michiwaki Y, Nishimiya J, Kumagawa T, Kajiwara R, Takamine Y, Yagi C, Otaki R, Igarashi T, Mine S.   +8 more
europepmc   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

Clinical Genetics, EarlyView.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

Impact of maternal hypothyroidism during pregnancy on neonatal corpus callosum development: a transcranial ultrasound analysis. [PDF]

Front Neurosci
Ma QF, Ma LY, Yang GF, Zhang H, Ma HB, Ruan LT.   +5 more
europepmc   +1 more source

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, EarlyView.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Bridging the anatomical gap: evolutionary conservation of genetic mechanisms in corpus callosum disorders across human, mouse, and zebrafish. [PDF]

Front Mol Neurosci
Ayushma, Srivastava PP, Minocha S.
europepmc   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, EarlyView.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source