Results 161 to 170 of about 78,121 (262)

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Bridging the anatomical gap: evolutionary conservation of genetic mechanisms in corpus callosum disorders across human, mouse, and zebrafish. [PDF]

Front Mol Neurosci
Ayushma, Srivastava PP, Minocha S.
europepmc   +1 more source

Screen Time Exposure and Children's and Adolescents' Health. A Position Paper from the European Academy of Paediatrics (EAP) and European Confederation of Primary Care Paediatricians (ECPCP)

Acta Paediatrica, EarlyView.
ABSTRACT Aim This position paper aims to synthesize current evidence on the effects of screen exposure on children's and adolescents' physical, mental and social health, critically review existing international and European guidelines, and propose coordinated, harmonized and age‐appropriate recommendations for policymakers, paediatric societies ...
Lorenza Onorati, Grigorios Papantoniou, Berthold Koletzko, Artur Mazur, Dominique Kyriaki Karafyllidou, Eugenio Baraldi, Laura Reali   +6 more
wiley   +1 more source

The Genetic Architecture of the Human Corpus Callosum and its Subregions. [PDF]

Nat Commun
Bhatt RR, Gadewar SP, Shetty A, Ba Gari I, Haddad E, Javid S, Ramesh A, Nourollahimoghadam E, Zhu AH, de Leeuw C, Thompson PM, Medland SE, Jahanshad N.   +12 more
europepmc   +1 more source

Challenges in Diagnosing Central Adrenal Insufficiency in Children: Cortisol‐Stimulating Tests are Safe and Often Required

Clinical Endocrinology, EarlyView.
ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah, Ana Carolina Maia Teodózio, Davi Casale Aragon, Paula Conde Lamparelli Elias, Margaret de Castro, Ayrton Custodio Moreira, Sonir Rauber Antonini   +6 more
wiley   +1 more source

Dynamic changes in the corpus callosum in a case of HIVEP2-related disorder: a case report and literature review. [PDF]

BMC Pediatr
Zhu Z, Ma M, Cui X, Shu J, Liu Y.
europepmc   +1 more source

The Spectrum of Congenital Hypogonadotropic Hypogonadism: A 30‐Year Experience at a Tertiary Paediatric Centre

Clinical Endocrinology, EarlyView.
ABSTRACT Congenital hypogonadotropic hypogonadism (CHH) is a rare group of disorders of gonadotropin deficiency, either isolated or as a part of multiple pituitary hormone deficiencies (MPHD). We aimed to describe the spectrum of presentation, diagnosis, and management practices of CHH spanning 30 years at an Australian tertiary paediatric centre. This
Minha Kook, Richard G. McGee, Geoffrey Ambler, Yoon Hi Cho   +3 more
wiley   +1 more source

The postnatal expression of transcripts and proteins in the corpus callosum, as well as its myelinization, is affected by the congenital absence of AQP4. [PDF]

J Physiol Biochem
Mayo F, González-Vinceiro L, Hiraldo-González L, Torres-Rubio I, Calle-Castillejo C, Sobh-Doush E, Ramírez-Lorca R, Echevarría M.   +7 more
europepmc   +1 more source

Neurodevelopmental and neurological features in children with hypochondroplasia

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To assess neurodevelopmental and neurological features, including neuroimaging abnormalities, in children with molecularly confirmed hypochondroplasia. Method A retrospective cohort study of children with molecularly confirmed hypochondroplasia seen at Evelina London Children's Hospital skeletal dysplasia service was performed.
Megan F. Baxter, Rhoda Akilapa, Alessandra Cocca, Melita D. Irving   +3 more
wiley   +1 more source

Mapping Human Corpus Callosum Connectivity With Diffusion Spectrum Imaging: A Deterministic Tractography Approach. [PDF]

Brain Behav
Zhang C, Shi JW, Wang ZM, Wei PH, Lu C, Wang YH, Zhang HQ, Fan XT, Shan YZ, Lu J, Ou SQ, Zhao GG.   +11 more
europepmc   +1 more source