Results 151 to 160 of about 241,043 (267)

Congenital Heart Disease in a Paralympic Athlete With Klinefelter Syndrome. [PDF]

open access: yesJACC Case Rep
Alexandrino FB   +6 more
europepmc   +1 more source

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada   +6 more
wiley   +1 more source

Amiodarone-induced thyrotoxicosis in a child with congenital heart disease. [PDF]

open access: yesEndocrinol Diabetes Metab Case Rep
Karandikar P   +3 more
europepmc   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

open access: yesJournal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi   +13 more
wiley   +1 more source

A comprehensive review of sleep disordered breathing in people with congenital heart disease. [PDF]

open access: yesFront Sleep
Maxfield K   +6 more
europepmc   +1 more source

First‐Trimester Crown‐Rump Length and Large for Gestational Age Newborns: What Correlation?

open access: yesJournal of Clinical Ultrasound, EarlyView.
Our research found for the first time that uneventful pregnancies with LGA neonates are characterized by larger than expected CRL at the first trimester. CRL is one of the new markers that can be used to early identify fetuses at risk of increased fetal growth.
Marika Ylenia Rovetto   +10 more
wiley   +1 more source

Incidental Detection of Portal Venous Gas During POCUS in a Neonate With Necrotizing Enterocolitis and Intestinal Perforation: A Case Report

open access: yesJournal of Clinical Ultrasound, EarlyView.
Point‐of‐care ultrasound performed at the bedside identified hepatic portal venous gas in a critically ill neonate, prompting urgent evaluation and revealing intestinal perforation due to necrotizing enterocolitis. This case highlights the potential of POCUS to accelerate diagnosis when clinical signs are subtle or nonspecific.
Tiago Henrique de Souza   +4 more
wiley   +1 more source

Autism screening and diagnosis in children with congenital heart disease. [PDF]

open access: yesFront Pediatr
Ontiveros Perez NL   +5 more
europepmc   +1 more source

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