Results 221 to 230 of about 157,912 (301)

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao   +13 more
wiley   +1 more source

Intrauterine Transfusions in Fetuses Affected by Parvovirus B19: Complications, Challenges and Outcomes

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This study evaluates the procedural characteristics, complications, and outcomes of intrauterine transfusion (IUT) for fetal anemia caused by parvovirus B19 infection during the 2023–2024 epidemic in Northwestern Europe. Method This multicenter observational study included all fetuses undergoing IUT for proven parvovirus B19‐induced ...
Banu Özbakir   +6 more
wiley   +1 more source

Alterations in Metabolites Associated With Umbilical Cord Blood in Monozygotic Twins Discordant for Congenital Heart Disease

open access: yesPediatric Discovery, EarlyView.
This study found that the metabolomic signature of umbilical venous cord blood in congenital heart disease (CHD) differs from that of healthy monozygotic (MZ) co‐twins. Dysregulation of metabolic pathways like glucose, lipid, and amino acid metabolism, along with altered metabolites, helps understand CHD predisposition.
Fang Xiang   +6 more
wiley   +1 more source

Cardiac resynchronization therapy and pulmonary artery banding in advanced heart failure infants with left ventricular dilated cardiomyopathy and left bundle branch block

open access: yesPediatric Investigation, EarlyView.
The combination of cardiac resynchronization therapy and pulmonary artery banding was associated with substantial improvement in advanced heart failure infants with left ventricular dilated cardiomyopathy and left bundle branch block. Most patients exhibited marked improvement in clinical status and ventricular function, along with a reduction in QRS ...
Min Zeng   +8 more
wiley   +1 more source

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

open access: yesPediatric 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

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