Results 181 to 190 of about 99,772 (304)

Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome

Clinical Endocrinology, EarlyView.
ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle, Christine Lefevre, Simon Boussion, Cindy Colson, Iva Gueorguieva, Francois Marcelli, Anne Laure Barbotin, Pascal Pigny, Hamza Benderradji, Clara Leroy   +9 more
wiley   +1 more source

PROBLEMS OF SELECTING THERAPY FOR HEART FAILURE IN A NEWBORN

Мать и дитя в Кузбассе
Congenital heart defects are still a serious medical and social problem. The incidence of congenital heart defects varies widely and ranges from 2.4% to 14.15%.
Наталья Николаевна Лылова, Наталья Владимировна Коробкова, Григорий Валерьевич Вавин, Светлана Ивановна Елгина, Елена Владимировна Рудаева, Наталья Степановна Черных, Кира Борисовна Мозес, Арина Андреевна Сизинцева   +7 more
doaj  

Expert collaboration for safe perinatal stabilization of neonates with select critical congenital heart defects at non-cardiac centers. [PDF]

BMC Pediatr
Brickmann C, Ackermann K, Krüger M, Mommsen H, Tschositsch K, Scholz C, Hauer J, Oberhoffer-Fritz R, Ewert P, Kleinpaß AS.   +9 more
europepmc   +1 more source

CONGENITAL HEART DEFECTS

Journal of the American College of Cardiology, 2017
openaire   +2 more sources

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Individual Risk Versus Population Incidence: A Case Example With Congenital Heart Defects. [PDF]

Acad Pediatr
Laternser C, Anderson BR, Yee LM, Grobman WA, Batton B, Knepp MD, Woo JL.   +6 more
europepmc   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Dietary Choline Intake During Pregnancy and Congenital Heart Defects in a Chinese Population. [PDF]

Nutrients
Li YH, Xiao Z, Guo R, Rekemubieke B, Hu W, Liu X, Yang J.   +6 more
europepmc   +1 more source

Phenotypic Characterization of Five Children With PACS1‐NDD: Longitudinal Insights Into Development, Behavior, and Brain

Clinical Genetics, EarlyView.
Longitudinal multimodal assessment of five children with PACS1‐NDD revealed global developmental delays, prominent restricted and repetitive behaviors, relatively preserved social interest, heterogeneous language trajectories, and reduced gray and white matter volumes.
Fiona Journal, Nada Kojovic, Kenza Latrèche, Stefania Solazzo, Marie Schaer   +4 more
wiley   +1 more source

Epidemiology of congenital heart defects in live births: findings from a study in Southern Brazil. [PDF]

BMC Cardiovasc Disord
de Oliveira FG, da Costa Salecker GO, de Souza AL, Arashiro CS, Pires JR, Nolibos VB, Barbosa RMM, de Menezes Karam S, Lorea CF, Sanseverino MTV, Sutil AT, Kowalski TW, Schuler-Faccini L, da Rocha TS.   +13 more
europepmc   +1 more source