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This new edition provides a much-needed reference book to accommodate emerging and expanding knowledge in fertility preservation, the rapidly growing field of reproductive medicine associated with advances in oncology. Written by a team of world-leading experts in the field and comprehensive in its scope, the book covers the full range of techniques and scientific concepts in detail. It opens with an introduction to fertility preservation in both cancer and non-cancer patients, followed by fertility preservation strategies in males and females, including medical/surgical procedures, ART, cryopreservation and transplantation of ovarian tissue, and in-vitro follicle culture. Concluding chapters address new technologies, as well as ethical, legal and religious issues. The book has been thoroughly updated, includes additional contributors, and now provides greater focus on practical and clinically relevant issues. Richly illustrated throughout, this is a key resource for clinicians specializing in reproductive medicine, gynecology, oncology, hematology, endocrinology and infertility.
Studies suggest that alcohol consumption and alcohol use disorders have distinct genetic backgrounds.
We examined whether polygenic risk scores (PRS) for consumption and problem subscales of the Alcohol Use Disorders Identification Test (AUDIT-C, AUDIT-P) in the UK Biobank (UKB; N = 121 630) correlate with alcohol outcomes in four independent samples: an ascertained cohort, the Collaborative Study on the Genetics of Alcoholism (COGA; N = 6850), and population-based cohorts: Avon Longitudinal Study of Parents and Children (ALSPAC; N = 5911), Generation Scotland (GS; N = 17 461), and an independent subset of UKB (N = 245 947). Regression models and survival analyses tested whether the PRS were associated with the alcohol-related outcomes.
In COGA, AUDIT-P PRS was associated with alcohol dependence, AUD symptom count, maximum drinks (R2 = 0.47–0.68%, p = 2.0 × 10−8–1.0 × 10−10), and increased likelihood of onset of alcohol dependence (hazard ratio = 1.15, p = 4.7 × 10−8); AUDIT-C PRS was not an independent predictor of any phenotype. In ALSPAC, the AUDIT-C PRS was associated with alcohol dependence (R2 = 0.96%, p = 4.8 × 10−6). In GS, AUDIT-C PRS was a better predictor of weekly alcohol use (R2 = 0.27%, p = 5.5 × 10−11), while AUDIT-P PRS was more associated with problem drinking (R2 = 0.40%, p = 9.0 × 10−7). Lastly, AUDIT-P PRS was associated with ICD-based alcohol-related disorders in the UKB subset (R2 = 0.18%, p < 2.0 × 10−16).
AUDIT-P PRS was associated with a range of alcohol-related phenotypes across population-based and ascertained cohorts, while AUDIT-C PRS showed less utility in the ascertained cohort. We show that AUDIT-P is genetically correlated with both use and misuse and demonstrate the influence of ascertainment schemes on PRS analyses.
Loss of fertility in adult life is a major psychologically traumatic consequence of cancer treatment. Improving therapeutic regimens using less gonadotoxic protocols could enable spontaneous recovery of spermatogenesis, but their use is not always possible without compromising patient survival. Cryopreservation of testicular tissue pieces may be considered as an alternative method capable of maintaining cell-to-cell contacts between Sertoli and germinal stem cells, and therefore preserving the stem cell niche necessary for their survival and subsequent maturation. In humans, preclinical in vitro studies using cadaver or surgically removed testes have demonstrated the feasibility of transplanting germ cell suspensions into testes. The first convincing demonstration of human testis transplantation was reported in 1978. The most important, life-threatening concern of spermatogonial transplantation is the risk of reintroducing malignant cells. Providing young people undergoing gonadotoxic treatment with adequate fertility preservation strategies is a challenging area of reproductive medicine.