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 - 27 December 2023

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 >

Eloisa Sassá Carvalho^#, Maria Francilene S. Souza, Kelly Cristina O. Abud, Claudia R. P. Castro, Juliano G. Penha, Ana Maria Thomaz, Vanessa A. Guimarães, Antonio Augusto Lopes^*

Congenital Heart Disease, Vol.17, No.3, pp. 351-363, 2022, DOI:10.32604/chd.2022.019382 - 03 May 2022

Abstract Background: Postoperative pulmonary hypertension limits the success of surgical treatment in some patients with unrestrictive congenital cardiac communications. Identifying patients at risk of developing postoperative pulmonary hypertension is important to individualize follow-up strategies. Methods: We analyzed a prospective cohort of 52 pediatric patients (age 3 to 35 months) looking for perioperative predictors of mildly elevated pulmonary arterial pressure 6 months after surgery, defined as a systolic pressure greater than 30 mmHg by transthoracic echocardiography. This corresponds to a mean pulmonary arterial pressure of >20 mmHg. Clinical, echocardiographic and hemodynamic parameters were investigated. Perioperative hemodynamics was assessed by directly… More >

T. Jayasree^1,*, S.Emerald Shia²

Sound & Vibration, Vol.55, No.2, pp. 141-161, 2021, DOI:10.32604/sv.2021.011734 - 21 April 2021

Abstract This paper presents the pathological voice detection and classification techniques using signal processing based methodologies and Feed Forward Neural Networks (FFNN). The important pathological voices such as Autism Spectrum Disorder (ASD) and Down Syndrome (DS) are considered for analysis. These pathological voices are known to manifest in different ways in the speech of children and adults. Therefore, it is possible to discriminate ASD and DS children from normal ones using the acoustic features extracted from the speech of these subjects. The important attributes hidden in the pathological voices are extracted by applying different signal processing 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 >