1,721,156 research outputs found
Diagnostics of CFTR-negative patients with congenital bilateral absence of vas deferens: which mutations are of most interest?
No full textChromatin morphometrical analysis on freeze-fractured apoptotic cells
No full textInternat. Conference on Cell death in human patology
Preconception carrier screening and preimplantation genetic testing in the infertility management
Full text linkBackground: Genetic testing serves as a valuable element of reproductive care, applicable at various stages of the reproductive journey: (i) before pregnancy, when a couple's genetic reproductive risk can be evaluated; (ii) before embryo implantation, as part of in vitro fertilization (IVF) treatment, to ascertain several inherited or de novo genetic/chromosomal diseases of the embryo before transfer; (iii) during the prenatal period, to assess the genetic costitution of the fetus. Preconception carrier screening (CS) is a genetic test typically performed on couples planning a pregnancy. The primary purpose of CS is to identify couples at-risk of conceiving a child affected by a severe genetic disorder with autosomal recessive or X-linked inheritance. Detection of high reproductive risk through CS allows prospective parents to be informed of their predisposition and improve reproductive decision-making. These include undergoing IVF with preimplantation genetic testing (PGT) or donor gametes, prenatal diagnosis, adoption, remaining childless, taking no actions. Both the presence of the affected gene (PGT-M) and chromosomal status (PGT-A) of the embryo can be comprehensively assessed through modern approaches. Objectives: We provide a review of CS and PGT applications to equip healthcare providers with up-to-date information regarding their opportunities and complexities. Results and Discussion: The use of CS and PGT is currently considered the most effective intervention for avoiding both an affected pregnancy whilst using autologous gametes in couples with known increased risk, and chromosomal abnormalities. As our understanding in the genetic component in pathological conditions increases, the number of tested disorders will expand, offering a more thorough assessment of one's genetic inheritance. Nevertheless, implementation and development in this field must be accompanied by scientific and ethical considerations to ensure this approach serves the best long-term interests of individuals and society, promoting justice and autonomy and preserving parenthood and the healthcare system. Conclusion: The combination of CS and PGT aligns with principles of personalized medicine by offering reproductive care tailored to the individual's genetic makeup
Nuclear translocation of beta II PKC isoenzyme in phorbol ester-stimulated KM-3 pre-B human leukemic cells.
No full textChromatin conformation in the apoptotic cell: a freeze-fracture morphometrical study.
No full textConvegno - I.C.E.M. 13, Pari
Exploring the gene activity of granulosa cells
Full text linkGranulosa Cells (GCs) are the follicular so- matic components which ensure the environ- ment for oocyte correct development. GCs functionality is a key determinant of the oocyte quality and competence. Transcrip- tome analysis of GCs could be useful to ex- plore the molecular pathway regulating the cross-talk between oocyte and somatic com- ponents of the follicle. The purpose of this article is to summarize recent knowledge on the gene activity of GCs in physiological conditions. Moreover, we focus on GCs tran- scriptomic behavior influenced by a number of variables including aging, polycystic ovarian syndrome and IVF stimulation pro- tocols
Nutrigenetics, epigenetics and gestational diabetes: consequences in mother and child.
Full text linkGestational Diabetes Mellitus (GDM) is the most common metabolic condition during pregnancy and may result in short- and long-term complications for both mother and offspring. The complexity of phenotypic outcomes seems influenced by genetic susceptibility, nutrient-gene interactions and lifestyle interacting with clinical factors. There is strong evidence that not only the adverse genetic background but also the epigenetic modifications in response to nutritional and environmental factors could influence the maternal hyperglycemia in pregnancy and the foetal metabolic programming. In this view, the correlation between epigenetic modifications and their transgenerational effects represents a very interesting field of study. The present review gives insight into the role of gene variants and their interactions with nutrients in GDM. In addition, we provide an overview of the epigenetic changes and their role in the maternal-foetal transmission of chronic diseases. Overall, the knowledge of epigenetic modifications induced by an adverse intrauterine and perinatal environment could shed light on the potential pathophysiological mechanisms of long-term disease development in the offspring and provide useful tools for their prevention
Response to letter to the editor: nutrigenetic variants and response to diet/lifestyle intervention in obese subjects-a pilot study
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