Results 71 to 80 of about 28,424 (265)

Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study

Frontiers in Psychiatry
BackgroundClassical galactosemia (CG) is a rare inherited metabolic disorder associated with long-term neurodevelopmental, language, cognitive and psychosocial difficulties.
Aleksandra Gozdanek, Amanda Krzywdzińska-Rogowska, Barbara Remberk, Anna Bauer, Jolanta Sykut-Cegielska   +4 more
doaj   +1 more source

The Challenge of Diagnosis and Indication for Treatment in Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2017
Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD, Carolina S. Aranda MD, MSc, Sandra O. Kyosen MD, MSc, Patricia Varela MSc, Vanessa G. Pereira PhD, Vania D’Almeida PhD, João B. Pesquero PhD, Ana M. Martins MD, PhD   +7 more
doaj   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source

Thymic inborn errors of immunity

Journal of Allergy and Clinical Immunology
The thymus is crucial for optimal T-cell development by facilitating the generation and selection of a diverse repertoire of T cells that can recognize foreign antigens while promoting tolerance to self-antigens. A number of inborn errors of immunity causing complete or partial defects in thymic development (athymia) and/or impaired thymic function ...
Pala, Francesca, Notarangelo, Luigi D., Lionakis, Michail S.   +2 more
openaire   +3 more sources

Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection

The Anatomical Record, EarlyView.
Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson, Pierre Frémondière, Kaspar Staub, Philipp Mitteroecker, Barbara Fischer, Martin Haeusler, Nicole M. Webb   +6 more
wiley   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

CNTF protects oligodendrocytes from ammonia toxicity: Intracellular signaling pathways involved

Neurobiology of Disease, 2009
In pediatric patients, hyperammonemia can provoke irreversible damages to developing CNS like cortical atrophy, ventricular enlargement, demyelination or gray and white matter hypodensities which are concordant with alterations of neurons and ...
Laurène Cagnon, Olivier Braissant
doaj   +1 more source

Born this way: Does variation in perinatal limb bone morphology predict adult locomotor repertoire in primates?

The Anatomical Record, EarlyView.
Abstract Primates show a high degree of locomotor diversity that engenders similar variance in limb bone cross‐sectional geometry and bending strength: leaping primates have stronger hindlimb bones whereas suspensory species have stronger forelimb bones.
Angela M. Mossor, Jeremy Busken, Lorna Benden, Ethan Mardovin, Andrew Bostick, Grégoire Boulinguez‐Ambroise, Timothy D. Smith, Jesse W. Young   +7 more
wiley   +1 more source

Role of caspases, calpain and cdk5 in ammonia-induced cell death in developing brain cells

Neurobiology of Disease, 2008
Hyperammonemia in neonates and infants causes irreversible damages in the developing CNS due to brain cell loss. Elucidating the mechanisms triggering ammonia-induced cell death in CNS is necessary for the development of neuroprotective strategies.
Laurène Cagnon, Olivier Braissant
doaj   +1 more source

The mechanism of labor in nonhuman primates: A look inside

The Anatomical Record, EarlyView.
Abstract While in humans, the flexed position of the fetus and its rotating course down the birth canal are well documented, in other primates the mechanism of labor is unknown. Despite the lack of comparative data, it is commonly assumed that the human obstetric mechanism is unique, and anthropologists have disputed when and why the transition to the ...
Melissa K. Stoller
wiley   +1 more source