Results 121 to 130 of about 148,895 (244)

Pediatric Heart Conditions: What Do Occupational Therapists Need to Know? [PDF]

, 2020
Rogers, Stefanie
core   +2 more sources

Wilms Tumor in Children with AMER1/WTX Germline Pathogenic Variants: A Multicenter Case Series

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background 10–15% of children with Wilms tumor (WT) have predisposing genetic syndromes. Somatic mutations are frequently identified; however, germline pathogenic variants in AMER1 are much less prevalent and are associated with osteopathia striata with cranial sclerosis (OSCS).
Insiyah Campwala, Jaclyn Schienda, Andrew J. Murphy, Basil Hashimi, Taylor Perry, Nicholas Cost, Junne Kamihara, Elizabeth A. Mullen, Teresa Santiago, Marcus M. Malek   +9 more
wiley   +1 more source

The Role of miRNA Expression in Congenital Heart Disease: Insights into the Mechanisms and Biomarker Potential. [PDF]

Children (Basel)
Mannarino S, Calcaterra V, Puricelli F, Cecconi G, Chillemi C, Raso I, Cordaro E, Zuccotti G.   +7 more
europepmc   +1 more source

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

Prenatal 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, Rupali Gandhi, Christina Laternser, Tara Iyengar, Lynn M. Yee, William A. Grobman, Matthew M. Davis, Angira Patel, Joyce T. Johnson   +8 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]

Int J Mol Sci
Fabiani M, Zangheri C, Cima A, Monaco F, Ali' C, Barone MA, Viola A, Mesoraca A, Margiotti K, Giorlandino C.   +9 more
europepmc   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Multimodal Management of Complex Congenital Heart Disease: A Case of Atrial and Ventricular Septal Defects With a Bifid Apex. [PDF]

Cureus
Işik Ö, Kizilay K, Dik M, Ülvan N.
europepmc   +1 more source

Characteristic Analysis of Ultrasound Diagnosis of Limb Body Wall Complex in Early Pregnancy

Prenatal Diagnosis, EarlyView.
ABSTRACT This study aims to explore the diagnostic value of prenatal ultrasound in limb body wall complex (LBWC) during pregnancy and to improve the understanding of LBWC for early ultrasound diagnosis. The ultrasound data and follow‐up results of 107 cases of LBWC (predominantly diagnosed in the first trimester) from the Third Affiliated Hospital of ...
Lingling Zhang, Rui Wang, Yueshu Zhao, Juan Wu, Hezhou Li, Mengna Li   +5 more
wiley   +1 more source

A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1. [PDF]

BMC Med Genomics
Farris J, Dergam-Larson C, Lopour M, Darr K, Schimmenti LA, Scruggs BA, Lambert LJ, Klee EW.   +7 more
europepmc   +1 more source

Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Horseshoe lung is a rare congenital malformation in which the lungs are fused by a parenchymal isthmus. The current literature is very limited regarding cases of prenatal diagnosis and their outcome. Method We retrospectively examined three cases of fetuses with horseshoe lung diagnosed antenatally in our center from 2015 to 2024 ...
Benjamin Birene, Paul Maurice, Catherine Garel, Blandine Prevost, Yohan Soreze, Maud Chabaud, Jean‐Marie Jouannic   +6 more
wiley   +1 more source