Results 81 to 90 of about 158,757 (260)

Craniofacial growth, modeling, and estimation of milestones

The Anatomical Record, EarlyView.
Abstract Understanding craniofacial growth is foundational for research into intra‐ and interspecies variation, evolution, and clinical care. The Craniofacial Growth Consortium Study (CGCS), combines cephalographs from historical growth studies to create a dense longitudinal record of growth from 6 to 22 years of age.
Richard J. Sherwood, Dana L. Duren, Christina L. Holzhauser, Hee Soo Oh, Manish Valiathan, Kieran P. McNulty, Kevin M. Middleton   +6 more
wiley   +1 more source

Identification of four TTN variants in three families with fetal akinesia deformation sequence

BMC Medical Genomics
Background TTN is a complex gene with large genomic size and highly repetitive structure. Pathogenic variants in TTN have been reported to cause a range of skeletal muscle and cardiac disorders. Homozygous or compound heterozygous mutations tend to cause
Lihong Fan, Haibo Li, Ying Xu, Yingzhi Huang, Yeqing Qian, Pengzhen Jin, Xueping Shen, Zhi Li, Mingsong Liu, Yufei Liang, Guosong Shen, Minyue Dong   +11 more
doaj   +1 more source

A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China

Practical Laboratory Medicine
Objective: Presentation of a novel case of a patient with Hb Bart's hydrops fetalis, which was accurately identified by SMRT sequencing leading to expand the mutation spectrum of α-thalassemia.
Zeyan Zhong, Dina Chen, Zhiyang Guan, Guoxing Zhong, Zhiyong Wu, Jianmin Chen, Jianhong Chen   +6 more
doaj   +1 more source

Interaction of the Gut Microbiota and the Enteric Nervous System: Implications in Gastrointestinal Disorders Associated With Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction, restricted interests, and repetitive behaviors. In addition to these core behavioral symptoms, gastrointestinal (GI) disorders are frequently reported, ranging from severe constipation to diarrhea.
Baptiste Ganachaud, María José Mendoza‐León, Justine Marchix, Alonso Fernandez Tello, Catherine Le Berre Scoul, Ma Cecilia Opazo, Michel Neunlist, Claudia A. Riedel, Martial Caillaud, Hélène Boudin   +9 more
wiley   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Case‐malformed signal detection and prioritisation using EUROmediCAT data for pharmacovigilance in pregnancy

British Journal of Clinical Pharmacology, EarlyView.
Aim Many women take medications during pregnancy. However, the risk to the fetus from most medications is uncertain. Congenital anomalies are one of the leading causes of infant death and contribute to long‐term disability. Signal detection methods can be used to systematically identify possible medication–anomaly associations that require further ...
Hannah Johnson, Helen Dolk, Maria Loane, Christine Damase‐Michel, Joanne Given, Hedvig Nordeng, Jorieke E. H. Bergman, Iain Carey, Elly Den Hond, Ester Garne, Florence Rouget, Lea Bruneau, Isabelle Monier, Anke Rissmann, Mary O'Mahony, Miriam Gatt, Renée Lutke, Joanna Sichitiu, Elisa Ballardini, Alessio Coi, Clara Cavero Carbonell, David Tucker, Joan Morris   +22 more
wiley   +1 more source

Exploration of copy number variations and candidate genes in fetal congenital heart disease using chromosomal microarray analysis

Journal of Perinatal Medicine
This study aimed to investigate copy number variations (CNVs) and potential candidate genes associated with fetal congenital heart disease (CHD) and to compare the prevalence of CNVs among different CHD subtypes.
Yao Di, Xia Ruyu, Jiang Xu, Guo Caiqin, Shi Nan, Tao Hehua, Yang Lan   +6 more
doaj   +1 more source

MT‐RNR1 genotype testing for preventing aminoglycoside‐mediated ototoxicity: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

British Journal of Clinical Pharmacology, EarlyView.
Aminoglycosides are broad‐spectrum antibiotics used in the management of severe infections. Aminoglycosides are associated with nephrotoxicity and ototoxicity. Although dosing strategies such as once‐daily administration and therapeutic drug monitoring have reduced the incidence of nephrotoxicity, ototoxicity remains unpredictable and may occur at ...
John H. McDermott, Sian Hilton, Cinzia Dello Russo, Nicola Booth, Simon Drysdale, Philip Howard, Stephen Hughes, Mallinath Chakraborty, Helen McDevitt, Charlotte Alston, Maya Desai, Mike Beadsworth, Adam Reynolds, Serim Min, Katherine Payne, Munir Pirmohamed, William G. Newman   +16 more
wiley   +1 more source

Parental involvement and engagement during COVID‐19 lockdowns: School staff and parents' reflections about children's learning at home

British Educational Research Journal, EarlyView.
Abstract Valuing parental engagement, as part of home–school collaboration, can benefit children's learning. This article focuses on parents and school‐based staff's (N = 120) experiences of children's learning occurring at home during the COVID‐19 lockdowns (2020–2021), both school‐mandated and other learning activities.
Ashley Brett, Bonny L. Hartley, Deborah Wallace, Adewale Magaji, Lorraine Smith, Rachel Wolfendale   +5 more
wiley   +1 more source

Lessons from local area special educational needs and disability inspections: A content analysis of Ofsted and Care Quality Commission outcome letters

British Educational Research Journal, EarlyView.
Abstract The growing concern about demand for, and provision of, support for children and young people with special educational needs and disabilities (SEND) has led the English government to announce a review of the system, which many describe as being in crisis.
Ariadna Albajara Sáenz, Isaac Winterburn, Jacob Matthews, Anne‐Marie Burn, Tamsin Ford, Jennifer Saxton   +5 more
wiley   +1 more source