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Immune Gene Expression Profiling in Individuals with Turner Syndrome, Graves' Disease, and a Healthy Female by Single-Cell RNA Sequencing: A Comparative Study.
Cells
January 2025
Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea.
Turner syndrome (TS) can be determined by karyotype analysis, marked by the loss of one X chromosome in females. However, the genes involved in autoimmunity in TS patients remain unclear. In this study, we aimed to analyze differences in immune gene expression between a patient with TS, a healthy female, and a female patient with Graves' disease using single-cell RNA sequencing (scRNA-seq) analysis of antigen-specific CD4(+) T cells.
View Article and Find Full Text PDFHETEROKARYOTIC MONOZYGOTIC TURNER TWINS: AN INTERESTING PRESENTATION.
Acta Endocrinol (Buchar)
January 2025
Bursa Uludag University, School of Medicine, 1Department of Pediatric Endocrinology.
Turner syndrome is the most common sex chromosomal abnormality in about 1:2000-2500 live female births. While short stature and delayed puberty are the most common presentations of patients, atypical findings can also be seen. In this article, we present the Turner twins, who were diagnosed during inguinal hernia surgery when bilateral uterus and ovaries were found within the hernia sac.
View Article and Find Full Text PDFHourglass-like constriction is a hallmark of neuralgic amyotrophy (Parsonage-Turner syndrome).
Hand Surg Rehabil
January 2025
Neurology Department, CHU de Bicêtre, AP-HP, Le-Kremlin-Bicêtre, France; French National Reference Center for Rare Neuropathies, Le-Kremlin-Bicêtre, France.
Transition to Adult Care in Turner Syndrome: Research Gaps and Strategies for Achieving Success.
Am J Med Genet C Semin Med Genet
January 2025
Cincinnati Children's Hospital Medical Center, Cincinnati, USA.
Health care transition is a process by which children with chronic medical conditions gradually and purposefully move from pediatric to adult-centered health care systems. While transition guidelines have been published by multiple national and international organizations, transition processes have not been optimized for many populations, including youth with Turner syndrome (TS). Numerous barriers exist, at both the system and individual/family level.
View Article and Find Full Text PDFGenomic studies of autism and other neurodevelopmental disorders have identified several relevant protein-coding and noncoding variants. One gene with an excess of protein-coding variants is that also is the gene underlying the Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS). In previous work, we have identified noncoding variants in an enhancer of called hs737 and further showed that there was an enrichment of deletions of this enhancer in individuals with neurodevelopmental disorders.
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