Results 121 to 130 of about 54,392 (259)

Implications for Newborn and Child Growth Classification Using INTERGROWTH‐21st and WHO Child Growth Standards

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective The aim of this study was to assess how the use of the WHO Child Growth Standards (WHO GS) and the INTERGROWTH‐21st Standards (IG‐21st) affect the classification and interpretation of growth trajectories. Design A secondary data analysis of an observational cohort study.
Linda Vesel, Sara Strout, Simon Parker, Audencio Victor, Bancy Ngatia, Eric O. Ohuma   +5 more
wiley   +1 more source

Inhibin βB Mediates Oligotrophic Adaptation via Regulating Muscle Satellite Cell Proliferation and Differentiation in Schizopygopsis younghusbandi

Integrative Zoology, EarlyView.
① Nutrient deficiency upregulates inhibin βB, activating SMAD signaling to promote p21. Increased p21 inhibits mcm2/mcm4/mcm5 and cyclin E2, inducing G1‐phase arrest, slowing growth, and reducing energy consumption. ② Inhibin βB also upregulates pdgf‐c, which induces α‐SMA, leading to muscle satellite cell fibrosis.
Weiqiang Li, He Gao, Chaowei Zhou, Luo Lei, Junting Li, Chao Ma, Zitu Ma, Mengwei Yao, Kexin Ma, Yunpeng Xiang, Yan Zhou, Yongrui Lu, Da Ji, Minghong Wei, Luohao Xu, Zhaofang Han, Haiping Liu   +16 more
wiley   +1 more source

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis. [PDF]

Clin Genet
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Jacob M, Badmann S, Bigoni S, Iascone M, Vivaldi I, Mayerhanser K, Kopajtich R, Prokisch H, Forest C, Eck S, Zech M, Graf E, Wagner M, Winkelmann J, Brunet T, Brugger M.   +15 more
europepmc   +2 more sources

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Diagnostic Yield of Brain MRI in Pediatric Short Stature: Hypothalamic–Pituitary Lesions and Incidental Findings in Real‐World Practice

Clinical Endocrinology, EarlyView.
ABSTRACT Background Brain MRI is widely performed in children with short stature or suspected growth hormone deficiency(GHD) to exclude hypothalamic–pituitary (HP) pathology, yet its diagnostic yield in routine practice is uncertain. We aimed to evaluate the prevalence, clinical significance, and distribution of HP and extrahypothalamic abnormalities ...
Mustafa Zubeidat, Tamer Sobeh, Shai Shrot   +2 more
wiley   +1 more source

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

Small size, big problems: insights and difficulties in prenatal diagnosis of fetal microcephaly

Frontiers in Neuroscience
Microcephaly is a sign, not a diagnosis. Its incidence varies widely due to the differences in the definition and the population being studied. It is strongly related to neurodevelopmental disorders.
Leila Haddad, Leila Haddad, Leila Haddad, Efrat Hadi, Efrat Hadi, Efrat Hadi, Zvi Leibovitz, Zvi Leibovitz, Dorit Lev, Dorit Lev, Dorit Lev, Yoseph Shalev, Yoseph Shalev, Liat Gindes, Liat Gindes, Liat Gindes, Tally Lerman-Sagie, Tally Lerman-Sagie, Tally Lerman-Sagie   +18 more
doaj   +1 more source

Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series

Clinical Genetics, EarlyView.
Genetic testing leads to a diagnostic rate of ~30% in a fetal cohort with cerebral ventriculomegaly where the neuropathological examination revealed a stenosis or atresia of the aqueduct of Sylvius. ABSTRACT Fetal cerebral ventriculomegalies are brain anomalies with potentially poor neurodevelopmental prognosis.
Romain Nicolle, Laurence Loeuillet, Bettina Bessieres, Lucile Boutaud, Sarah Grotto, Nicolas Bourgon, Maryse Bonniere, Jelena Martinovic, Aude Tessier, Nathalie Roux, Giulia Petrilli, Naima Talhi, Marion Lesieur‐Sebellin, Jérémy Bertrand, Anaïs L'haridon, Aurélie Coussement, Marie‐Laure Maurin, Marie‐Paule Beaujard, Valérie Malan, Férechté Razavi, Tania Attie‐Bitach   +20 more
wiley   +1 more source

Expanding the Biochemical Phenotype of ReNU Syndrome: A Case Report

Clinical Genetics, EarlyView.
This report detailed the clinical findings and the biochemical phenotype of a 3‐year‐old girl with ReNU syndrome. Circulating biomarkers and a muscle biopsy s uggested mild mitochondrial abnormalities. Severe plasmalogen deficiency was also observed, comparable to defects of peroxisomal plasmalogen biosynthesis.
Irene De Biase, McKall Johnson, Qinwen Mao, Vanina L. Taliercio, Stacey L. Cole   +4 more
wiley   +1 more source

Pericerebral spaces as diagnostic signposts in fetal central nervous system pathologies

Ultrasound in Obstetrics &Gynecology, EarlyView.
L. Guibaud, S. Cabet
wiley   +1 more source