Results 121 to 130 of about 53,000 (243)

Are inborn errors of immunity being investigated in the pediatric intensive care unit? [PDF]

open access: yesJ Pediatr (Rio J)
de Brito CCM   +3 more
europepmc   +1 more source

Comparative Analysis of Information Quality in Pediatric Otorhinolaryngology: Clinicians, Residents, and Large Language Models

open access: yesOtolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective Pediatric otorhinolaryngology (ORL) addresses complex conditions in children, requiring a tailored approach for patients and families. With artificial intelligence (AI) gaining traction in medical applications, this study evaluates the quality of information provided by large language models (LLMs) in comparison to clinicians ...
Eleonora M. C. Trecca   +10 more
wiley   +1 more source

Inborn errors of immunity (primary immunodeficiencies). [PDF]

open access: yesAllergy Asthma Clin Immunol
Kim VHD   +4 more
europepmc   +1 more source

Liver transplantation for inborn errors of metabolism [PDF]

open access: yes, 1977
Koep, L, Putnam, CW, Starzl, TE
core  

Liver transplantation [PDF]

open access: yes, 1992
Esquivel, CO, Starzl, TE
core   +1 more source

Second‐Trimester Ultrasound Receipt Mediates the Relationship Between Public Insurance and Prenatal Diagnosis of a Congenital Heart Defect

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To delineate the mechanism behind insurance‐related disparities in the prenatal diagnosis of a congenital heart defect (CHD). Methods This was a retrospective analysis of electronic health records of pregnant individuals whose infants received CHD surgery between 2019 and 2020 in the third‐largest United States metropolitan area. The
Joyce L. Woo   +8 more
wiley   +1 more source

IEIVariantFilter: a bioinformatics tool to speed up genetic diagnosis of inborn errors of immunity patients. [PDF]

open access: yesNAR Genom Bioinform
Pereda J   +20 more
europepmc   +1 more source

Current Controversies in Prenatal Diagnosis—Conference Debate 2024: All Fetuses Undergoing Fetal Therapy Should Have Exome Sequencing

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT This manuscript summarises the debate held at the 2024 annual meeting of The International Society for Prenatal Diagnosis (ISPD). Experts discussed whether all fetuses undergoing fetal therapy should undergo exome sequencing. Arguments in favor included that, with increasing experience and better clinical availability, exome sequencing can ...
Teresa N. Sparks   +2 more
wiley   +1 more source

Pregnancy Complications in Fetal Congenital Heart Disease: A Result of Common Early Developmental Pathways Rather Than Fetal Hemodynamics

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective The aim of this study was to compare placenta‐related complications (adverse placental syndrome) between different types of fetal CHD based on cardiac hemodynamics. Method All CHD cases diagnosed prenatally by fetal ECHO during 2009–2023 were selected.
Maartje C. Snoep   +10 more
wiley   +1 more source

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