Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare congenital heart defect characterized by underdeveloped pulmonary valve and right ventricular hypoplasia. Neonates undergoing surgery to open pulmonary valve have a range of post-surgical ventricular recovery: single-ventricle (1v) palliation, one-and-half ventricle (1.5v) palliation, and bi-ventricular (2v) repair. PA-IVS-1.5v typically requires surgical intervention to install cavopulmonary shunt and entails partial right ventricle recovery. NCHi016-A is an iPSC line derived from a 5-year-old female with PA-IVS-1.5v using Sendai Virus reprogramming. This iPSC line shows typical iPSC morphology, has normal karyotype, expresses pluripotency markers, and has potential to differentiate into three germ layers.
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http://dx.doi.org/10.1016/j.scr.2024.103530 | DOI Listing |
Biol Res
January 2025
Department of Pediatrics, The First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Background: Karyotype 46, XY female disorders of sex development (46, XY female DSD) are congenital conditions due to irregular gonadal development or androgen synthesis or function issues. Genes significantly influence DSD; however, the underlying mechanisms remain unclear. This study identified a Chinese family with 46, XY female DSD due to the CUL4B gene.
View Article and Find Full Text PDFPublic Health Nutr
January 2025
SEANUTS Indonesian Team/Faculty of Medicine, Universitas Indonesia, Depok, Indonesia.
Objective: The South East Asian Nutrition Survey II Indonesia aimed to provide up-to-date data on dietary intake, nutritional and biochemical status of children aged 0·5-12 years in Indonesia 2019-2020.
Design: Multistage cluster sampling, stratified by geographical location.
Setting: Out of forty-six targeted districts in Indonesia, the study only covered twenty-one districts/cities in Java and Sumatera islands, Indonesia due to COVID-19 pandemic.
Am J Med Genet A
December 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%-50% of patients. This phenotypic variability is partially explained by genotype-phenotype correlations, with several ribosomal protein genes implicated in this disorder. Most cases are due to de novo variants, but familial occurrences highlight variable expressivity and reduced penetrance.
View Article and Find Full Text PDFDev Sci
January 2025
Department of Psychology, Western Washington University, Bellingham, USA.
Young children rapidly acquire and rigidly adhere to conventional norms. Prior accounts of this early-emerging norm behavior propose that children perceive conventional norms as obligations to their cultural groups and, in conforming to the norms, sacrifice their individual desires for the welfare of the group. In the current research, we investigate the hypothesis that children may actually derive happiness from adhering to conventional norms, thus aligning rather than diverging from their individual desires.
View Article and Find Full Text PDFBMC Immunol
December 2024
Immunology Unit, Department of Laboratory Diagnostic and Investigative Sciences, Faculty of Medicine and Health Sciences, University of Zimbabwe, UZ-FMHS), Harare, Zimbabwe.
Background: HIV-exposed uninfected (HEU) children are at increased risk of morbidity during the first years of life. Although the immune responses of HEU infants in early-life are relatively well described, studies of natural killer (NK) cells in older HEU children are lacking. NK cell subsets were analysed in HEU children and compared to those in HIV unexposed uninfected (HUU) children aged ~ five years.
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