Polymorphisms in MDM2 and TP53 Genes and Risk of Developing Therapy-Related Myeloid Neoplasms.

One of the most severe complications after successful cancer therapy is the development of therapy-related myeloid neoplasms (t-MN). Constitutional genetic variation is likely to impact on t-MN risk. We aimed to evaluate if polymorphisms in the p53 pathway can be useful for predicting t-MN susceptibility.

Consequences of quality of reduction on osteosynthesis complications and quality of life in elderly patients with subtrochanteric fracture.

Objective: To compare results in terms of orthopaedic complications and quality of life in elderly patients with subtrochanteric fracture treated with intramedullary nailing according to fracture reduction status.

Patients And Methods: A prospective cohort study including 90 elderly patients with subtrochanteric fractures of the femur treated with a cephalomedullary nail, with a minimum 1-year follow up. The inclusion criteria were: aged 60 years or older, without severe cognitive dysfunction and independent ambulatory capability before the fracture.

Apoptosis mediated by phosphatidylserine externalization in the elimination of aneuploid germ cells during human spermatogenesis.

It has been described that aneuploidies trigger cell cycle checkpoints leading to apoptosis. The aim of this study was to assess the relationship between the presence of chromosomal abnormalities and apoptosis in germ cells and in Sertoli cells. Fourteen diagnostic testicular biopsies from infertile patients were processed following a sequential methodology, which included enzymatic disaggregation, apoptotic staining, cell sorting, cell fixation, and fluorescent in situ hybridization analysis.

A sequential methodology that allows apoptotic cell sorting and FISH analysis in human testicular cells.

The objective of this study was to develop a methodology that permits the detection and separation of apoptotic cells in human testicular tissue and their subsequent cytogenetic analysis by fluorescence in situ hybridization (FISH). The sequential methodology consisted of five steps: 1) enzymatic disaggregation of testicular tissue, 2) specific staining of apoptotic cells, 3) cell sorting by flow cytometry, 4) cell fixation, and 5) FISH. Enzymatic disaggregation yielded cell counts that ranged from 1.

Hidden mosaicism in patients with Klinefelter's syndrome: implications for genetic reproductive counselling.

Background: Most individuals with Klinefelter's syndrome (KS) are azoospermic but residual foci of spermatogenesis have been observed in some patients. However, no consistent predictive factors for testicular sperm extraction success have been established and mosaicism could be a factor to investigate. In this study, we have assessed the degree of mosaicism in somatic and germinal tissues in KS, the meiotic competence of 47,XXY germ cells and the aneuploidy rate of post-reductional cells.