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Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations.
JBMR Plus
February 2025
Radiology and Imaging Sciences, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD 20892, United States.
Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by constitutive activation of parathyroid hormone type 1 receptor (PTH1R). We sought to characterize the craniofacial phenotype of patients with the disease. Six patients with genetically confirmed JMC underwent comprehensive craniofacial phenotyping revealing a distinct facial appearance that prompted a cephalometric analysis demonstrating a pattern of mandibular retrognathia.
View Article and Find Full Text PDFChild sleep problems mediate prospective associations between fathers' parenting stress and child blood glucose levels.
J Fam Psychol
January 2025
Department of Biobehavioral Health, Pennsylvania State University.
The present study examined the role of first-time fathers' parenting stress during infancy in relation to children's mean blood glucose via glycated hemoglobin (HbA1c) levels during middle childhood while also exploring the mediating role of child sleep problems in this association. A total of 306 fathers self-reported on parenting stress when their children were 10 months old (49% of girls). Fathers also reported on child sleep problems when their children were 24 months old.
View Article and Find Full Text PDFKlinefelter Syndrome: A Review.
Clin Endocrinol (Oxf)
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Background: Klinefelter syndrome (KS) is an uncommonly recognised condition typified by gynaecomastia, small testes and aspermatogenesis. It is caused by a supernumerary X chromosome, resulting in a 47 XXY karyotype. Since its first description, the phenotype of KS has evolved and there is a much greater appreciation of the subtle features of the condition.
View Article and Find Full Text PDFSevere neonatal hypotonia due to variant affecting function of ZnT5 zinc transporter.
JIMD Rep
January 2025
The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences Ben Gurion University Beer-Sheva Israel.
The tightly-regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn transporters: the 14-member ZIP/SLC39 family, facilitating Zn influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10-member ZnT/SLC30 family, mobilizing Zn in the opposite direction. Genetic aberrations in most zinc transporters cause human syndromes. Notably, previous studies demonstrated osteopenia and male-specific cardiac death in mice lacking the ZnT5/ zinc transporter, and suggested association of two homozygous frameshift variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy.
View Article and Find Full Text PDFEstablishment and perturbation of human gut microbiome: common trends and variations between Indian and global populations.
Gut Microbiome (Camb)
June 2024
Department of Systems and Computational Biology, University of Hyderabad, Hyderabad, India.
Human gut microbial species are crucial for dietary metabolism and biosynthesis of micronutrients. Digested products are utilised by the host as well as several gut bacterial species. These species are influenced by various factors such as diet, age, geographical location, and ethnicity.
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