The burden of congenital Chagas disease and implementation of molecular diagnostic tools in Latin America [PDF]
, 2018 It is estimated that between 8000 and 15 000 Trypanosoma cruzi infected babies are born every year to infected mothers in Chagas disease endemic countries. Currently, poor access to and performance of the current diagnostic algorithm, based on microscopy
Cruz, Israel +7 more
core +1 more source
The Egyptian Heart Journal, 2023 Background Speckle-tracking echocardiography (STE) is an upcoming echocardiographic modality to measure global as well as segmental left ventricular systolic function expressed numerically as strain values independent of angle and ventricular geometry ...
Ayah Tarek Elsayegh +3 more
doaj +1 more source
Reliability of Early Fetal Echocardiography for Congenital Heart Disease Detection: A Preliminary Experience and Outcome Analysis of 102 Fetuses to Demonstrate the Value of a Clinical Flow-Chart Designed for At-Risk Pregnancy Management [PDF]
, 2016 Early fetal echocardiography (EFEC) is a fetal cardiac ultrasound analysis performed between the 12th and 16th week of pregnancy (compared with the usual 18-22 weeks).
Abed, M.m. +8 more
core +1 more source
International Journal of Cardiology Congenital Heart Disease, 2023 Thanks to advances in both medical care and surgical techniques, over recent years, survival for patients with congenital heart disease (CHD) has increased significantly, with about 90% of patients now reaching adulthood.
Rosaria Barracano +2 more
doaj +1 more source
Chest CT scoring for evaluation of lung sequelae in congenital diaphragmatic hernia survivors
, 2020 Objectives Data on long-term structural lung abnormalities in survivors of congenital diaphragmatic hernia (CDH) is scarce. The purpose of this study was to develop a chest computed tomography (CT) score to assess the structural lung sequelae in CDH ...
Aukland, Stein M. +5 more
core +1 more source
Cardiopatias Congénitas Complexas: Influência do Diagnóstico Pré-Natal [PDF]
, 2015 INTRODUCTION: Complex congenital heart disease is a group of severe conditions. Prenatal diagnosis has implications on morbidity and mortality for most severe conditions.
Anjos, R +6 more
core +2 more sources
Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma
Pediatric Blood &Cancer, EarlyView.ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack +12 more
wiley +1 more source
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +3 more sources
The role of histone modifications in transcription regulation upon DNA damage
FEBS Letters, EarlyView.This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley +1 more source
Journal of Functional Biomaterials, 2018 Many congenital heart defects and degenerative valve diseases require replacement of heart valves in children and young adults. Transcatheter xenografts degenerate over time.
Leon Bruder +6 more
doaj +1 more source