Permanent suspension B-cell lines HSL-1, HSL-2, HSL-3, HSL-4, HSL-5, HSL-8, HSL-9 have been obtained spontaneously from lymphocytes and cells of hematopoietic tissues of patients with various forms of leukemia and tumours. All cell lines contained Epstein-Barr virus (EBV). At early stages of cultivation (6-39th passages) normal karyotypes were established for all the tested lines which testified their origin from normal B-lymphocytes. In the process of cultivation of HSL-1 cell line, which (up to the 63rd passage) contained primarily the normal karyotypes, a substitution for tetraploid ones (92, XX, YY) by the 132nd passage was established. In line HSL-4, a pathological clone of cells with structural chromosome rearrangements (46, XY, -2, -12, der (12) t (2; 12) (p12, p13); del2 (p12), was revealed at the 26th passage. During a prolonged cultivation (up to the 130th passage) this abnormal clone forced out completely the clone with normal karyotype. Substitution of normal clone cells by cells with pathological karyotypes may point to their selective advantage.
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J Pediatr Endocrinol Metab
January 2025
Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Türkiye.
Objectives: Premature ovarian insufficiency (POI) affects 1 in 10,000 children, with its molecular causes largely unknown. Adult studies suggest that low androgen levels induce ovarian insufficiency, but data on about this in children is limited. This study aims to assess the prevalence of low androgen levels in childhood POI and its relationship with adrenal insufficiency.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Laboratory of Neuroscience (LIM27), Departamento e Instituto de Psiquiatria, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil.
Background: Due to the genetic characteristics of Down syndrome (DS), it is directly associated with a group of clinical manifestations resulting from premature aging and may present patterns of Alzheimer's disease (AD). Thus, this study aimed to investigate AD biological markers in peripheral blood samples from adults and elderly individuals with DS and compare them with individuals with normal karyotype.
Methods: The DS group was subclassified into 55 SD without evidence of cognitive decline (DSNC) and 27 DS with cognitive decline (SDAD).
F S Rep
December 2024
Clinical Department, Al Ain Fertility Center, Al Ain, Abu Dhabi, United Arab Emirates.
Objective: To present a case of a couple with 20 years of infertility and 10 recurrent in vitro fertilization (IVF) failures, identifying a paternal complex chromosome rearrangement using high-resolution karyotype together with preimplantation genetic testing for structural rearrangements (PGT-SR) and utilizing IVF-intracytoplasmic sperm injection to achieve a successful pregnancy.
Design: Case report.
Setting: Al Ain Fertility Center, Abu Dhabi, United Arab Emirates.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.
Objective: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.
Methods: A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree.
Stem Cell Res
January 2025
Advanced Therapy Medicinal Product Center, Medical Life Sciences Institute, Department of Medical Sciences, Ministry of Public Health, Nonthaburi, Thailand. Electronic address:
Using the integration-free episomal vector containing the reprogramming components OCT3/4/shp53, Sox2/KLF4, L-MYC/LIN28, and EBNA-1, hematopoietic stem cells obtained from a healthy 33-year-old man were effectively reprogrammed and turned into induced pluripotent stem cells (iPSCs). The reprogrammed iPSCs were grown without the use of feeders. They exhibited a normal karyotype, displayed pluripotency markers, and differentiated into cells from the three germ layers.
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