Results 101 to 110 of about 36,492 (239)

A theoretical estimate of the risk of microcephaly during pregnancy with Zika virus infection

Epidemics, 2016
Objectives: There has been a growing concern over Zika virus (ZIKV) infection, particularly since a probable link between ZIKV infection during pregnancy and microcephaly in the baby was identified.
Hiroshi Nishiura, Kenji Mizumoto, Kat S. Rock, Yohei Yasuda, Ryo Kinoshita, Yuichiro Miyamatsu   +5 more
doaj   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

9q21.13q21.31 deletion in a patient with intellectual disability severe speech delay and and dysmorphic features a newly recognized microdeletion syndrome [PDF]

, 2019
The increased use of chromosomal microarray analysis has led to the identification of new microdeletion/microduplication syndromes, enabling better genotype-phenotype correlations.
Correia, Hildeberto, Ferreira, Cristina, Gonçalves, Rui, Marques, Barbara, Pedro, Sonia, Serafim, Silvia, Tarelho, Ana Rita   +6 more
core   +1 more source

Changing trends in prenatal screening and treatment of cytomegalovirus infection in France: 7‐year national cohort study (2017–2023)

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objectives Cytomegalovirus (CMV) is the leading cause of congenital infectious neurosensory impairment. We aimed to present national epidemiological data on maternal CMV infection during pregnancy in France, focusing in particular on primary infection in the periconceptional period or first trimester, and to assess the impact of changes in ...
P. Coste‐Mazeau, E. Ribot, S. Hantz, Y. Ville, M. Leruez‐Ville, S. Alain, the French Congenital Infection database group   +6 more
wiley   +1 more source

Clinical spectrum of congenital Zika virus infection in Brazil: Update and issues for research development [PDF]

Revista da Sociedade Brasileira de Medicina Tropical
This review aimed to provide an update on the morphological and/or functional abnormalities related to congenital Zika virus (ZIKV) infection, based on primary data from studies conducted in Brazil since 2015.
Celina Maria Turchi Martelli, Fanny Cortes, Sinval Pinto Brandão-Filho, Marilia Dalva Turchi, Wayner Vieira de Souza, Thalia Velho Barreto de Araújo, Ricardo Arraes de Alencar Ximenes, Demócrito de Barros Miranda-Filho   +7 more
doaj   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Serial head circumference measurements should be used to classify congenital microcephaly. [PDF]

BMC Pediatr, 2023
Sengasai C, Chokephaibulkit K, Plipat N, Wongsiridej P.   +3 more
europepmc   +1 more source

TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex human genetic disorders [PDF]

, 2008
Aicardi-Goutieres syndrome (AGS) is an unusual condition that clinically mimics a congenital viral infection. Several genes have recently been implicated in the aetiology of this disorder. One of these genes encodes the DNA exonuclease TREX1. Recent work
Aicardi, Akira, Alderton, Alderton, Bartek, Bartkova, Brennan, Brucet, Chen, Chowdhury, Crow, Crow, de Silva, DiTullio, Driscoll, Gasser, Griffith, Griffiths, Höss, Jazayeri, Kawai, Lee-Kirsch, Lee-Kirsch, Lieberman, Lieberman, Lindahl, Lindahl, Liu, Liu, Liu, Mark O’Driscoll, Martinvalet, Mazur, Mazur, Morita, Napirei, O’Driscoll, O’Driscoll, Qiu, Raulet, Rhodes, Rice, Richards, Shevelev, Stiff, Stiff, Takaoka, Tran, Tsukumo, Vyse, Walport, Yang, Yasutomo, Zou, Zou   +54 more
core   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Underreporting of Fatal Congenital Zika Syndrome, Mexico, 2016–2017

Emerging Infectious Diseases, 2019
To determine completeness of fatal congenital Zika syndrome reporting in Mexico, we examined data from the Mexican National Institute of Statistics and Geography.
Victor M. Cardenas, Angel Jose Paternina-Caicedo, Ernesto Benito Salvatierra   +2 more
doaj   +1 more source