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A rare mosaic trisomy 22 syndrome in a 7-year-old boy: rare case report.
Sudan J Paediatr
January 2024
Elite Center for Genetics Diagnosis, Khartoum, Sudan.
Trisomy 22 is a rare autosomal constitutional chromosomal disorder with high survival incompatibility being the third most frequent trisomy in spontaneous abortions and accounting for 10%-15% of all cases. Mosaic trisomy 22 is a less severe variant of the disorder associated with mild phenotype and longer lifespan compared to cases with complete trisomy 22. To date, there have only been 25 reported cases of trisomy 22 worldwide.
View Article and Find Full Text PDFNeurodevelopmental Abnormalities in Down Syndrome: Assessing Structural and Functional Deficits.
Cureus
December 2024
Department of Physiology, Touro College of Osteopathic Medicine, Middletown, USA.
Down syndrome (DS) is a genetic intellectual disorder caused by trisomy of chromosome 21 (Hsa21) and presents with a variety of phenotypes. The correlation between the chromosomal abnormality and the resulting symptoms is unclear, partly due to the spectrum of impairments observed. However, it has been determined that trisomy 21 contributes to neurodegeneration and impaired neurodevelopment resulting from decreased neurotransmission, neurogenesis, and synaptic plasticity.
View Article and Find Full Text PDFRescuing the Right Ventricle: Mechanical Support After Pediatric Heart Transplantation.
Ann Thorac Surg Short Rep
June 2024
Department of Cardiothoracic Surgery and Perfusion Services, The Heart Center, Nationwide Children's Hospital, Columbus, Ohio.
Background: Right ventricular (RV) failure after heart transplantation (HT) is common in those with pretransplantation elevated pulmonary vascular resistance (PVR). Mechanical circulatory support has been used as a bridge to recovery, with mixed outcomes. We describe a patient with failed single-ventricle palliation in whom severe RV failure developed after HT.
View Article and Find Full Text PDFAutomatic Single-Cell Harvesting for Fetal Nucleated Red Blood Cell Isolation on a Self-Assemble Cell Array (SACA) Chip.
Micromachines (Basel)
December 2024
Department of Engineering and System Science, National Tsing Hua University, Hsinchu 30013, Taiwan.
(1) Background: Fetal chromosomal examination is a critical component of modern prenatal testing. Traditionally, maternal serum biomarkers such as free β-human chorionic gonadotropin (Free β-HCG) and pregnancy-associated plasma protein A (PAPPA) have been employed for screening, achieving a detection rate of approximately 90% for fetuses with Down syndrome, albeit with a false positive rate of 5%. While amniocentesis remains the gold standard for the prenatal diagnosis of chromosomal abnormalities, including Down syndrome and Edwards syndrome, its invasive nature carries a significant risk of complications, such as infection, preterm labor, or miscarriage, occurring at a rate of 7 per 1000 procedures.
View Article and Find Full Text PDFGenetic analysis of partial duplication of the long arm of chromosome 16.
BMC Med Genomics
December 2024
Department of Pediatrics, Sichuan Provincial Woman's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
Background: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV).
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