Results 71 to 80 of about 22,740 (195)
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 +2 more
wiley +1 more source
EpidemiologiaBackground/Objectives: Congenital microcephaly is a clinical manifestation with a heterogeneous etiology, and its epidemiological surveillance relies on the systematic identification of cases and investigation of their underlying causes to inform ...
Melissa Daniella Gonzalez-Fernandez +8 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 +9 more
wiley +1 more source
Congenital Microcephaly in Two Infants With the Factor V Leiden Mutation
Journal of Child Neurology, 2002 Two infants with congenital microcephaly associated with the factor V Leiden mutation are described. In both cases, brain magnetic resonance imaging (MRI) revealed cerebral atrophy and porencephalic cystic lesions, which were probably attributable to prenatal cerebral vascular events.
Voudris, K.A. +2 more
openaire +3 more sources
Acta Paediatrica, EarlyView.ABSTRACT Aim Doxapram is used as an additional therapy for apnea of prematurity when standard treatments such as caffeine or continuous positive airway pressure are insufficient, but its impact on long‐term neurodevelopment remains uncertain. This study evaluated the association between Doxapram exposure and neurodevelopmental outcomes in very low ...
Thomas Müller +5 more
wiley +1 more source
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 +5 more
doaj +1 more source
Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population
Clinical Genetics, Volume 110, Issue 1, Page 90-95, July 2026.Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong +20 more
wiley +1 more source
Emerging Infectious Diseases, 2017 We summarize the characteristics of dysphagia in 9 infants in Brazil with microcephaly caused by congenital Zika virus infection. The Schedule for Oral Motor Assessment, fiberoptic endoscopic evaluation of swallowing, and the videofluoroscopic swallowing
Mariana C. Leal +9 more
doaj +1 more source
Clinical Genetics, EarlyView.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 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 TropicalThis 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 +7 more
doaj +1 more source