Results 71 to 80 of about 83,300 (217)

Transposisi Arteri Besar: Anatomi, Klinik, Kelainan Penyerta, dan Tipe

Sari Pediatri, 2016
Latar belakang. Transposisi arteri besar (TAB) merupakan salah satu penyakit jantung bawaan (PJB) tipe sianotik yang bermanifestasi pada periode bayi baru lahir.
Sri Endah Rahayuningsih
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Diagnostic Workup of Neonates With Esophageal Atresia : Results From the EUPSA Esophageal Atresia Registry [PDF]

, 2020
Aim:Controversies exist on the optimal diagnostic workup for neonates with esophageal atresia (EA) with/without tracheoesophageal fistula (TEF).
Koivusalo, Antti, EUPSA Esophageal Atresia Registry, Morini, Francesco, Conforti, Andrea, Zani, Augusto, Bagolan, Pietro   +5 more
core   +1 more source

Operação de Fontan-Kreutzer em anomalias cardíacas complexas outras que não atresia tricúspide lb, ventrículo único e atresia pulmonar com septo ventricular íntegro The operation of Fontan-Kreutzer in complex congenital anomalies other than lb isolated tricuspid atresia, single ventricle and pulmonary atresia with intact septum

Brazilian Journal of Cardiovascular Surgery, 1988
Oitenta e quatro pacientes foram submetidos a operação tipo Fontan, no Instituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, entre 1979 e 1989; as idades variaram entre 5 meses e 31 anos.
Miguel Barbero-Marcial, Arlindo A Riso, Edmar Atik, R Iwakashi, Deipara M. A Machado, Ângela Albuquerque, Geraldo Verginelli, Adib D Jatene   +7 more
doaj  

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, Volume 46, Issue 7, Page 1122-1129, June 2026.
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, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Twin pregnancy complicated by total placenta previa in a Fontan-palliated patient: A case report

Case Reports in Women's Health, 2018
We present a case of a twin pregnancy in a Fontan-palliated woman that was complicated by total placenta previa. The patient was diagnosed with tricuspid atresia type II, and underwent the Fontan operation at 11 years of age.
Aoi Morita, Saki Kido, Masahiro Hachisuga, Hazumu Nagata, Nobuhiro Hidaka, Kiyoko Kato   +5 more
doaj   +1 more source

Computational Modeling Meets 3D Bioprinting: Emerging Synergies in Cardiovascular Disease Modeling

Advanced Healthcare Materials, Volume 15, Issue 17, 8 May 2026.
Emerging advances in three‐dimensional bioprinting and computational modeling are reshaping cardiovascular (CV) research by enabling more realistic, patient‐specific tissue platforms. This review surveys cutting‐edge approaches that merge biomimetic CV constructs with computational simulations to overcome the limitations of traditional models, improve ...
Tanmay Mukherjee, Mehdi Salar Amoli, Sarah Rezapourdamanab, Lama Rita El Shammas, Martin L. Tomov, Emilio A. Mendiola, Vahid Serpooshan, Reza Avazmohammadi   +7 more
wiley   +1 more source

Stool Color Card Screening for Biliary Atresia

, 2012
INTRODUCTION: Biliary atresia is a major cause of extrahepatic obstructive jaundice in neonates. Early Kasai operation is the gold standard of treatment.
曾瑞如;賴美淑;林明志;傅雲慶, TSENG, JUI-JU;LAI, MEI-SHU;LIN, MING-CHIH;FU, YUN-CHING   +1 more
core   +1 more source

Effect of an artificial ring on mitral valve function [PDF]

, 2019
2019-05Differences of the effect of annuloplasty rings on the mitral annulus and leaflets, and differences between types of annuloplasty rings are not well known. We analyzed annular motion and leaflet movement with a rigid or flexible ring and without a
Araki, Yoshimori, Saito, Shunei, Yokote, Jun, Hasegawa, Hiroki, Usui, Akihiko   +4 more
core   +1 more source

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

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
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, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source