AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans.

Dynein complexes are large, multi-unit assemblies involved in many biological processes via their critical roles in protein transport and axoneme motility. Using next-generation sequencing of infertile men presenting with low or no sperm in their ejaculates, we identified damaging variants in the dynein-related gene AXDND1. We thus hypothesised that AXDND1 is a critical regulator of male fertility.

Endometriosis: recent advances that could accelerate diagnosis and improve care.

Endometriosis is a common disorder associated with pain, gastrointestinal and urinary symptoms, infertility, and fatigue. It is defined by the presence of endometrial-like lesions found predominantly in the pelvis. Mechanisms that contribute to disease aetiology include changes in hormonal, inflammatory, and pain pathways.

Sexual health and fertility in Duchenne muscular dystrophy-An exploratory study.

Introduction/aims: Recent clinical guidelines recommend that adolescents with Duchenne muscular dystrophy (DMD) who are on daily glucocorticoid treatment should be offered pubertal induction in order to ensure adult levels of sex hormones as they reach adulthood. However, it remains unclear how gonadal status, including androgen concentrations, impacts physical function and future fertility. The aim of this study was to give a voice to adults with DMD, exploring their perspectives around sexual health, hormone treatment, and fertility.

Development, Validation, and Implementation of an Augmented Multiwell, Multitarget Quantitative PCR for the Analysis of Human Papillomavirus Genotyping through Software Automation, Data Science, and Artificial Intelligence.

The value of human papillomavirus (HPV) testing for cervical cancer screening is well established; however, its use as a primary screening option or as a reflex test after atypical cytology results is now gaining wider acceptance. The importance of full genotyping and viral load determination has been demonstrated to enhance the clinical understanding of the viral infection progression during follow-up or after treatment, thereby providing clinicians with supplementary tools for optimized patient management. We developed a new analysis method for the RIATOL quantitative PCR assay, and validated and implemented it in the laboratory of clinical molecular pathology at Algemeen Medisch Laboratorium (AML), under national accreditation and following the International Organization for Standardization guidelines.

Coping with sexual violence as a post-assault formed couple: A dyadic phenomenological interview analysis.

Increasing evidence shows that survivors of sexual violence frequently experience relationship difficulties following their victimization. Little is known regarding how couples which formed post-assault cope with the impact of the prior assault. Hence, the aim of the current study was to gain insight into post-assault formed couples' experiences in coping with the impact of sexual violence.

Brain 3T magnetic resonance imaging in neonates: features and incidental findings from a research cohort enriched for preterm birth.

Background And Objectives: The survival rate and patterns of brain injury after very preterm birth are evolving with changes in clinical practices. Additionally, incidental findings can present legal, ethical and practical considerations. Here, we report MRI features and incidental findings from a large, contemporary research cohort of very preterm infants and term controls.

Epigenetic scores derived in saliva are associated with gestational age at birth.

Background: Epigenetic scores (EpiScores), reflecting DNA methylation (DNAm)-based surrogates for complex traits, have been developed for multiple circulating proteins. EpiScores for pro-inflammatory proteins, such as C-reactive protein (DNAm CRP), are associated with brain health and cognition in adults and with inflammatory comorbidities of preterm birth in neonates. Social disadvantage can become embedded in child development through inflammation, and deprivation is overrepresented in preterm infants.

Risks of adverse obstetric outcomes among female survivors of adolescent and young adult cancer in England (TYACSS): a population-based, retrospective cohort study.

Background: There are limited data on the risks of obstetric complications among survivors of adolescent and young adult cancer with most previous studies only reporting risks for all types of cancers combined. The aim of this study was to quantify deficits in birth rates and risks of obstetric complications for female survivors of 17 specific types of adolescent and young adult cancer.

Methods: The Teenage and Young Adult Cancer Survivor Study (TYACSS)-a retrospective, population-based cohort of 200 945 5-year survivors of cancer diagnosed at age 15-39 years from England and Wales-was linked to the English Hospital Episode Statistics (HES) database from April 1, 1997, to March 31, 2022.

Endocrine disruption and male reproductive disorders: unanswered questions.

Maternal exposure to endocrine-disrupting chemicals (EDCs) in human pregnancy is widely considered as an important cause of adverse changes in male reproductive health due to impaired foetal androgen production/action. However, the epidemiological evidence supporting this view is equivocal, except for certain phthalates, notably diethyl hexyl phthalate (DEHP). Maternal phthalate exposure levels associated with adverse reproductive changes in epidemiological studies are several thousand-fold lower than those needed to suppress foetal androgen production in rats, and direct studies using human foetal testis tissue show no effect of high phthalate exposure on androgen production.

Between a Rock and a Hard Place: "I Decided to Keep Quiet": A Qualitative Inquiry Into the Coping Experiences of Young People (15-24) Working at High-Risk Venues for HIV in Uganda.

Employment linked with social venues has long been described as permissive environments for excessive drinking, disruptive/aggressive behaviors, and overt sexual behaviors, which are known risk factors for HIV. Yet, our understanding of the extent to which workers in such high-risk work settings cope with the various risks therein is still limited. This study explored the coping strategies employed by workers at social venues.

Evaluation of the Allplex HPV assay's adherence to international guidelines for cervical cancer screening in clinician-collected samples.

Clinically validated human papillomavirus (HPV) assays are crucial in cervical cancer screening. In this study, we evaluated the Allplex HPV HR Detection assay (Seegene, SouthKorea) for its clinical accuracy and reproducibility according to the international criteria, using the RealTime High Risk HPV m2000 assay (Abbott, USA) as standard comparator. The Allplex HPV HR assay exhibits significant non-inferior sensitivity to detect cervical intraepithelial neoplasia grade (CIN) 2 or worse (CIN2+) with a ratio of 1.

Endometriosis: Improvements and challenges in diagnosis and symptom management.

Endometriosis is a chronic disorder with debilitating symptoms that is difficult to diagnose and treat. Advances in imaging technologies and strategies for the management of symptoms are improving the quality of life of patients by reducing the time taken for diagnosis and offering a more balanced approach to therapy.

Expression of transforming growth factor β signalling molecules and their correlations with genes in loci linked to polycystic ovary syndrome in human foetal and adult tissues.

Context Altered signalling of androgens, anti-Müllerian hormone or transforming growth factor beta (TGFβ) during foetal development have been implicated in the predisposition to polycystic ovary syndrome (PCOS) in later life, aside from its genetic predisposition. In foetal ovarian fibroblasts, TGFβ1 has been shown to regulate androgen signalling and seven genes located in loci associated with PCOS. Since PCOS exhibits a myriad of symptoms, it likely involves many different organs.

Quality of hospital labour and delivery care: A multilevel analysis in Southern Nations and Nationalities People's Region of Ethiopia.

Background: Ethiopia has one of the highest maternal mortality ratios in Africa. Few have examined the quality of labour and delivery (L&D) care in the country. This study evaluated the quality of routine L&D care and identified patient-level and hospital-level factors associated with the quality of care in a subset of government hospitals.

Nasal cathelicidin is expressed in early life and is increased during mild, but not severe respiratory syncytial virus infection.

Respiratory syncytial virus is the major cause of acute lower respiratory tract infections in young children, causing extensive mortality and morbidity globally, with limited therapeutic or preventative options. Cathelicidins are innate immune antimicrobial host defence peptides and have antiviral activity against RSV. However, upper respiratory tract cathelicidin expression and the relationship with host and environment factors in early life, are unknown.

Trends in Adolescent Sexual and Reproductive Health Outcomes Before and Into the COVID-19 Pandemic in Burkina Faso and Kenya: Evidence From Panel Data.

Purpose: Many predicted that COVID-19 would have a substantial impact on the sexual and reproductive health (SRH) trajectories of adolescents in sub-Saharan Africa. The lack of longitudinal data with information collected before and into the pandemic has limited investigation into this topic.

Methods: We performed a secondary analysis using nationally representative longitudinal data from Kenya and Burkina Faso, collected at three time points (pre-COVID-19 in late 2019, and during COVID-19 in 2020 and 2021), to determine the extent to which SRH outcomes and behaviors, including pregnancy, contraceptive use, partnership status, and sexual activity, changed during the pandemic among adolescent women.

Eggsurance? A randomized controlled trial of a decision aid for elective egg freezing.

Study Question: Does a purpose-designed Decision Aid for women considering elective egg freezing (EEF) impact decisional conflict and other decision-related outcomes?

Summary Answer: The Decision Aid reduces decisional conflict, prepares women for decision-making, and does not cause distress.

What Is Already Known: Elective egg-freezing decisions are complex, with 78% of women reporting high decisional conflict. Decision Aids are used to support complex health decisions.

Ovarian carcinosarcoma is highly aggressive compared to other ovarian cancer histotypes.

Background: Ovarian carcinosarcoma (OCS) is an unusual ovarian cancer type characterized by distinct carcinomatous and sarcomatous components. OCS has been excluded from many of the pan-histotype studies of ovarian carcinoma, limiting our understanding of its behavior.

Methods: We performed a multi-cohort cross-sectional study of characteristics and outcomes in ovarian cancer patients from Scotland (n=2082) and the Surveillance, Epidemiology and End Results Program (SEER, n=44946) diagnosed with OCS or one of the other major histotypes: high grade serous (HGSOC), endometrioid (EnOC), clear cell (CCOC), mucinous (MOC) or low grade serous ovarian carcinoma (LGSOC).

Measuring the impact of maternal critical care admission on short- and longer-term maternal and birth outcomes.

Purpose: Factors increasing the risk of maternal critical illness are rising in prevalence in maternity populations. Studies of general critical care populations highlight that severe illness is associated with longer-term physical and psychological morbidity. We aimed to compare short- and longer-term outcomes between women who required critical care admission during pregnancy/puerperium and those who did not.

Clinical dilemmas in ovarian tissue cryopreservation.

Ovarian tissue cryopreservation (OTC) is increasingly offered globally as a fertility preservation strategy for both postpubertal women and prepubertal girls, with subsequent reimplantation of cryopreserved ovarian cortex resulting in a rapidly growing number of live births. There remains very limited evidence of efficacy from tissue stored when the patient was prepubertal or from conditions affecting the ovary directly, e.g.

Fetal growth delay caused by loss of non-canonical imprinting is resolved late in pregnancy and culminates in offspring overgrowth.

Germline epigenetic programming, including genomic imprinting, substantially influences offspring development. Polycomb Repressive Complex 2 (PRC2) plays an important role in Histone 3 Lysine 27 trimethylation (H3K27me3)-dependent imprinting, loss of which leads to growth and developmental changes in mouse offspring. In this study, we show that offspring from mouse oocytes lacking the PRC2 protein Embryonic Ectoderm Development (EED) were initially developmentally delayed, characterised by low blastocyst cell counts and substantial growth delay in mid-gestation embryos.

How can patient experience of abortion care be improved? Evidence from the SACHA study.

Background: Models of abortion care have changed significantly in the last decade, most markedly during the COVID-19 pandemic, when home management of early medical abortion with telemedical support was approved in Britain.

Objective: Our study aimed to examine women's satisfaction with abortion care and their suggestions for improvements.

Design: Qualitative, in-depth, semi-structured interviews.