Results 201 to 210 of about 173,111 (298)

Impact of Priming Volume Reduction on Hematocrit Retention in Pediatric Cardiopulmonary Bypass: A Retrospective Analysis

open access: yesPediatric Anesthesia, EarlyView.
ABSTRACT Background Retrograde autologous priming and venous antegrade priming replace the cardiopulmonary bypass circuit crystalloid with patient blood to mitigate hemodilution. However, their effectiveness in pediatric patients, particularly when analyzed as continuous variables, remains unclear.
Tokimitsu Hibino   +10 more
wiley   +1 more source

Dilatation of the main pulmonary artery in patients with isolated pulmonary stenosis: Arteriopathy or hemodynamic consequence? [PDF]

open access: yesJ Cardiovasc Magn Reson
Tamborrino PP   +6 more
europepmc   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

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

Characterization of a Novel <i>GATA4</i> Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis. [PDF]

open access: yesInt J Mol Sci
Fabiani M   +9 more
europepmc   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin   +12 more
wiley   +1 more source

Anterior Mediastinal Mass Mimicking Supravalvular Pulmonary Stenosis With Systolic Murmur. [PDF]

open access: yesJACC Case Rep
Azizee MF   +7 more
europepmc   +1 more source

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