Heterotaxy (HTX) is a rare condition characterized by complex congenital heart defects and a wide spectrum of extracardiac abnormalities that significantly impact survival. While molecular diagnosis is essential for clinical management, next-generation sequencing (NGS) currently identifies disease-causing variants in only 20%-30% of HTX cases. To address this diagnostic gap, we collected cases of HTX investigated by trio-based whole-exome (WES) and whole-genome sequencing (WGS) and performed detailed clinical and molecular characterization in seven children and fetuses from France and Vietnam. In parallel, we conducted a systematic review of 108 published cases to refine genotype-phenotype correlations. We identified seven variants in four key genes: DNAH9, PKD1L1, MMP21, and GDF1. The findings revealed significant phenotypic heterogeneity while highlighting strong genotype-phenotype correlations, such as the association of MMP21 and GDF1 variants with severe conotruncal malformations. Two unreported variants were identified, further expanding the mutational spectrum of laterality defects. By integrating fetopathological data with advanced genomic analyses, we further delineate the phenotypic spectrum of these conditions. Ultimately, this work underscores the high diagnostic value of NGS in prenatal and neonatal cardiology, enabling earlier diagnosis and more personalized clinical management.
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do et al.· Clinical Genetics· 0 citations
Education for Sustainable Development (ESD) is increasingly recognized as a fundamental driver for achieving global sustainability, yet a comprehensive, long-term mapping of its intellectual structure is needed to guide future policies. This study aims to delineate the evolutionary trajectory of ESD research from 2000 to 2024, identify the most significant contributors (countries, institutions, journals, and authors), and uncover the prevalent thematic clusters within this domain. A quantitative bibliometric approach was employed. The sample consisted of 2,774 English-language peer-reviewed documents extracted from the Scopus Core Collection, spanning from 2000 to 2024. Performance analysis and science mapping were conducted utilizing RStudio (Biblioshiny) and VOSviewer to evaluate co-authorship networks and thematic co-occurrences. The findings confirmed a continuous, exponential growth in ESD publications post-2015. Germany emerged as the most productive country (12.5% of total publications), though the Universitas Pendidikan Indonesia was identified as the leading institution. Thematic analysis revealed 15 distinct clusters, heavily focusing on higher education, curricula, and teacher training, while also highlighting a significant geographical imbalance wherein developed nations overshadow developing countries in overall research engagement.
Van Vinh Le, T. Tran, Van Nga Tran et al.· TEM Journal· 0 citations
