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A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.

STUDY QUESTION: Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility? SUMMARY ANSWER: Our findings revealed a significant association between SPGF and the SHOC1 gene and identified three novel genes (PCSK4, AP3B1, and DLK1) along with 32 potentially pathogenic rare variants in 30 genes that contribute to this condition. WHAT IS KNOWN ALREADY: SPGF is a major cause of male infertility, often with an unknown aetiology. SPGF can be due to either multifactorial c

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

BACKGROUND: Fetal structural anomalies, which are detected by ultrasonography, have a range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; which are detectable by chromosomal microarrays), and pathogenic sequence variants in developmental genes. Testing for aneuploidy and CNVs is routine during the investigation of fetal structural anomalies, but there is little information on the clinical usefulness of genome-wide next-generation sequencing in the prenatal setting. We therefore aimed to evaluate the proportion of fetuses with structural abnormalities that h

Trends and Disparities in Next-Generation Sequencing in Metastatic Prostate and Urothelial Cancers.

IMPORTANCE: Targeted therapies based on underlying tumor genomic susceptible alterations have been approved for patients with metastatic prostate cancer (mPC) and advanced urothelial carcinoma (aUC). OBJECTIVE: To assess trends and disparities in next-generation sequencing (NGS) testing among patients with mPC and aUC. DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study used an electronic health record-derived database to extract deidentified data of patients receiving care from US physician practices, hospital-affiliated clinics, and academic practices. Patients diagnosed wit

Cryobiology in human assisted reproductive technology. Would Hippocrates approve?

Recent advances in human cryobiology have been substantially greater than the first slow step from freezing spermatozoa in animals in Italy, published in 1776 to observing motility in frozen-thawed human sperm in 1938(1). Reports on cryopreservation of rabbit oocytes (1947)(1) and births from fertilised frozen-thawed mice oocytes in 1977(1) were soon followed by the first human pregnancy (1983)(1) and birth (1984)1 following transfer of frozen-thawed embryos after in-vitro fertilisation (IVF). Whereas cryopreservation of human sperm and embryos in tertiary level fertility centres is now common

2,4 Dinitrophenol as Medicine.

In the sanctity of pure drug discovery, objective reasoning can become clouded when pursuing ideas that appear unorthodox, but are spot on physiologically. To put this into historical perspective, it was an unorthodox idea in the 1950's to suggest that warfarin, a rat poison, could be repositioned into a breakthrough drug in humans to protect against strokes as a blood thinner. Yet it was approved in 1954 as Coumadin® and has been prescribed to billions of patients as a standard of care. Similarly, no one can forget the horrific effects of thalidomide, prescribed or available without a prescri

Unfavorable transcriptome profiles and social disadvantage in hematopoietic cell transplantation: a CIBMTR analysis.

Patient-reported outcomes (PROs) capture subjective social determinants of health (SDOHs), which can affect health outcomes through the stress response pathway. The conserved transcriptional response to adversity (CTRA) is a stress-mediated proinflammatory transcriptomic pattern that has been linked to adverse hematopoietic cell transplant (HCT) outcomes. This study examined the association of pretransplant CTRA with patient-reported SDOHs in allogeneic HCT recipients. In this cross-sectional study, pre-HCT SDOH-related PROs included the 36-Item Short Form Health Survey and the Functional Asse

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… In summary, this study sought to quantify the association between patient-reported measures of social and behavioral determinants of health and a specific pretransplant social genomic profile among allogeneic HCT recipients. … Social genomics and cancer: neural regulation of the cancer genome. 23. Cole SW. The conserved transcriptional response to adversity. Curr Opin Behav Sci. 2019;28:31–37. doi: 10.1016/j.cobeha.2019.01.008. 24. Cole SW. Human social genomics. …

An overview of cancer health disparities: new approaches and insights and why they matter.

Cancer health disparities remain stubbornly entrenched in the US health care system. The Affordable Care Act was legislation to target these disparities in health outcomes. Expanded access to health care, reduction in tobacco use, uptake of other preventive measures and cancer screening, and improved cancer therapies greatly reduced cancer mortality among women and men and underserved communities in this country. Yet, disparities in cancer outcomes remain. Underserved populations continue to experience an excessive cancer burden. This burden is largely explained by health care disparities, lif

Disparities in care of older adults of color with cancer: A narrative review.

This review describes the barriers and challenges faced by older adults of color with cancer and highlights methods to improve their overall care. In the next decade, cancer incidence rates are expected to increase in the United States for people aged ≥65 years. A large proportion will be older adults of color who often have worse outcomes than older White patients. Many issues contribute to racial disparities in older adults, including biological factors and social determinants of health (SDOH) related to healthcare access, socioeconomic concerns, systemic racism, mistrust, and the neighborho

Рассеивание плериотропии между серьезным депрессивным расстройством и сопутствующими заболеваниями.

Серьезное депрессивное расстройство (МДС) характеризуется значительной совместимостью с медицинскими заболеваниями. Для достижения более высоких результатов для пациентов, страдающих ДМЗ, требуется более глубокое понимание механизмов, лежащих в основе широко распространенных комординаций. Здесь, с этой целью, мы нарисовали рисунки плейотропии, определив four - группы физических заболеваний (сердечные, метаболические, желудочно-кишечные и иммунные) и анализ их генетических связей с MDD с использованием геномного структурного уравнения моделирования. Three :: наличие независимых ассоциаций с МЗП

Иммунный транскриптомный профиль у взрослых женских свиней: доминантный статус оказывает большее влияние, чем экологическая обогащение.

ОКРУЖАЮЩАЯ СРЕДА: Оценка благосостояния сельскохозяйственных животных имеет решающее значение, однако по-прежнему отсутствуют практические физиологические средства. В этом исследовании мы проверили, обнаруживает ли периферийный транскриптом моноядерной клетки крови (PBMC) вариации в связи с благосостоянием свиней. Для этого мы сравнивали животных, состояние благосостояния которых было расценено как отличающееся из-за их жизни в более или менее обогащенной среде и из-за их различного доминирующего положения. Совы размещались в обычном помещении (C, n = 36) или обогащенного (E, n = 35) среда с д

Epigenome-wide association study of depression symptomatology in elderly monozygotic twins.

Depression is a severe and debilitating mental disorder diagnosed by evaluation of affective, cognitive and physical depression symptoms. Severity of these symptoms strongly impacts individual's quality of life and is influenced by a combination of genetic and environmental factors. One of the molecular mechanisms allowing for an interplay between these factors is DNA methylation, an epigenetic modification playing a pivotal role in regulation of brain functioning across lifespan. The aim of this study was to investigate if there are DNA methylation signatures associated with depression sympto

A review of big data and medical research.

Universally, the volume of data has increased, with the collection rate doubling every 40 months, since the 1980s. "Big data" is a term that was introduced in the 1990s to include data sets too large to be used with common software. Medicine is a major field predicted to increase the use of big data in 2025. Big data in medicine may be used by commercial, academic, government, and public sectors. It includes biologic, biometric, and electronic health data. Examples of biologic data include biobanks; biometric data may have individual wellness data from devices; electronic health data include t

Use of Real-World Evidence to Drive Drug Development Strategy and Inform Clinical Trial Design.

Interest in real-world data (RWD) and real-world evidence (RWE) to expedite and enrich the development of new biopharmaceutical products has proliferated in recent years, spurred by the 21st Century Cures Act in the United States and similar policy efforts in other countries, willingness by regulators to consider RWE in their decisions, demands from third-party payers, and growing concerns about the limitations of traditional clinical trials. Although much of the recent literature on RWE has focused on potential regulatory uses (e.g., product approvals in oncology or rare diseases based on sin

Online education for rare genetic diseases: a systematic review.

IntroductionRare genetic diseases are, collectively, not in fact rare. However, educational opportunities focused on rare genetic disease can be limited. The Internet has increased the availability of education related to rare genetic disease and is accessible to a diverse range of people who seek out such information, including healthcare professionals, researchers, students, patients, and the public.PurposeTo assess the potential educational outreach of the Internet, this systematic literature review will appraise the landscape of what education for rare genetic disease is available online,

ESMO/ASCO Recommendations for a Global Curriculum in Medical Oncology Edition 2023.

The European Society for Medical Oncology (ESMO) and ASCO are publishing a new edition of the ESMO/ASCO Global Curriculum (GC) with contributions from more than 150 authors. The purpose of the GC is to provide recommendations for the training of physicians in medical oncology and to establish a set of educational standards for trainees to qualify as medical oncologists. This edition builds on prior ones in 2004, 2010, and 2016 and incorporates scientific advances and input from an ESMO ASCO survey on GC adoption conducted in 2019, which revealed that GC has been adopted or adapted in as many a

Causal Estimation of Long-term Intervention Cost-effectiveness Using Genetic Instrumental Variables: An Application to Cancer.

BACKGROUND: This article demonstrates a means of assessing long-term intervention cost-effectiveness in the absence of data from randomized controlled trials and without recourse to Markov simulation or similar types of cohort simulation. METHODS: Using a Mendelian randomization study design, we developed causal estimates of the genetically predicted effect of bladder, breast, colorectal, lung, multiple myeloma, ovarian, prostate, and thyroid cancers on health care costs and quality-adjusted life-years (QALYs) using outcome data drawn from the UK Biobank cohort. We then used these estimates i

ESMO/ASCO Recommendations for a Global Curriculum in Medical Oncology Edition 2023.

The European Society for Medical Oncology (ESMO) and ASCO are publishing a new edition of the ESMO/ASCO Global Curriculum (GC) with contributions from more than 150 authors. The purpose of the GC is to provide recommendations for the training of physicians in medical oncology and to establish a set of educational standards for trainees to qualify as medical oncologists. This edition builds on prior ones in 2004, 2010, and 2016 and incorporates scientific advances and input from an ESMO/ASCO survey on GC adoption conducted in 2019, which revealed that GC has been adopted or adapted in as many a

АКНП 60th Ежегодное совещание: выдержки из плакатов P276 - P550.

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Cancer health disparities in racial/ethnic minorities in the United States.

There are well-established disparities in cancer incidence and outcomes by race/ethnicity that result from the interplay between structural, socioeconomic, socio-environmental, behavioural and biological factors. However, large research studies designed to investigate factors contributing to cancer aetiology and progression have mainly focused on populations of European origin. The limitations in clinicopathological and genetic data, as well as the reduced availability of biospecimens from diverse populations, contribute to the knowledge gap and have the potential to widen cancer health dispar

Миксобактериальная реакция на воздействие метильясмоната свидетельствует о вкладе в набор микропрепараторов на заводы.

Химические обмены между растениями и микробами в пределах ризобиомы имеют решающее значение для развития общинной структуры. Такие летучие корневые экюды, как фитохормоновый метилжасмонат (MeJA), способствуют принятию различных мер реагирования в связи со стрессом на растения, и они были причастны к тому, чтобы играть определенную роль в поддержании микробных сообществ. Миксобактерия является компетентным хищником растительных патогенов и, как правило, считается полезной для ризобиомов. Хотя было предложено использовать миксобактерию растений для защиты от патогенов, не известно о каких-либо с