YAFEI WANG^1,2,#, JIELEI NI^1,#, YUHAN LIU², DINGYING LIAO³, QIANWEN ZHOU¹, XIAOYANG JI², GANG NIU², YANXIANG NI^1,*

BIOCELL, Vol.47, No.12, pp. 2567-2578, 2023, DOI:10.32604/biocell.2023.043781

Abstract Down syndrome (DS) is a genetic condition characterized by intellectual disability, delayed brain development, and early onset Alzheimer’s disease. The use of primary neural cells and tissues is important for understanding this disease, but there are ethical and practical issues, including availability from patients and experimental manipulability. Moreover, there are significant genetic and physiological differences between animal models and humans, which limits the translation of the findings in animal studies to humans. Advancements in induced pluripotent stem cells (iPSC) technology have revolutionized DS research by providing a valuable tool for studying the cellular and molecular… More >

Raysa Morales-Demori

Congenital Heart Disease, Vol.12, No.6, pp. 820-827, 2017, DOI:10.1111/chd.12521

Abstract Congenital heart disease (CHD) is present in approximately 50% of patients with trisomy 21 (T21) and Turner syndrome (TS). According to the American Academy of Pediatrics, every patient with these genetic disorders should have a postnatal echocardiogram. T21 is usually associated with atrioventricular (30%–60%), atrial (16%-21%), or ventricular septal defects (14%–27%). TS is usually associated with left-sided heart disease. However, the spectrum of CHD in these genetic disorders is wider than those mentioned lesions. More cardiac surgical procedures are offered to these patients and that has influenced positively their life expectancy for some CHD conditions. More >

Jennifer K. Peterson¹, Shaun P. Setty^1,2, Jessica H. Knight³, Amanda S. Thomas⁴, James H. Moller⁵, Lazaros K. Kochilas^4,6

Congenital Heart Disease, Vol.14, No.5, pp. 854-863, 2019, DOI:10.1111/chd.12823

Abstract Objective: Patients with Trisomy 21 (T21) and single ventricle (SV) physiology present unique challenges compared to euploidic counterparts. This study reports postoperative and long‐term outcomes in patients with T21 and SV palliation.
Design: This retrospective cohort study from the Pediatric Cardiac Care Consortium (PCCC) included patients with T21 (<21 years old) that underwent surgical palliation for SV between 1982 and 2008 and control patients without known genetic anom‐ aly following Fontan palliation for similar diagnoses. Kaplan‐Meier survival plots were created based on death events obtained from the PCCC and by linkage with the National Death Index (NDI)… More >