Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Background: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic rearrangement structures, including duplications and triplications, and a wide range of duplication sizes, no clear correlation exists between DNA rearrangement and clinical features. We had previously demonstrated that up to 38% of MRXSL families are characterized by complex genomic rearrangements (CGRs) of intermediate complexity (2 ≤ copy number variant breakpoints < 5), yet the impact of these genomic structures on regulation of gene expression and phenotypic manifestations have not been investigated.

The trials and triumphs of co-producing an evaluation plan: A principles-focused evaluation.

Background: Recovery Colleges are mental health-oriented education programs that are rooted in principles of peer support and co-production. Co-production, in this context, involves people with lived experience of mental health and addiction challenges and people with other forms of expertise (e.g.

Lived Experience and Family Engagement in Mental Health and Substance use Health Research: Case Profiles of Five Studies.

Introduction: People with lived and living experience (PWLLE) and family members (F) can engage in mental health and substance use health research beyond participant roles, as advisors, co-researchers, equal partners and research leads. However, implementing meaningful and effective engagement is complex.

Methods: This article profiles five research initiatives involving different lived experience engagement structures, situated in a single tertiary care teaching and research hospital.

Immunological and molecular features of the tumor microenvironment of long-term survivors of ovarian cancer.

BACKGROUNDDespite an overall poor prognosis, about 15% of patients with advanced-stage tubo-ovarian high-grade serous carcinoma (HGSC) survive 10 or more years after standard treatment.METHODSWe evaluated the tumor microenvironment of this exceptional, understudied group using a large international cohort enriched for long-term survivors (LTS; 10+ years; n = 374) compared with mid-term (MTS; 5-7.99 years; n = 433) and short-term survivors (STS; 2-4.

History of Infertility and Risk of Endometrial Cancer in the Women's Health Initiative.

Background: Several studies have suggested an association between infertility and risk of endometrial cancer. However, most studies have evaluated this relationship in premenopausal people, yet the mean age of endometrial cancer is 60 years, after the average age of menopause.

Methods: Our study included Women's Health Initiative participants who self-reported whether they had a history of infertility.

Interpersonal determinants of diet quality and eating behaviors in people aged 13-30 years: A systematic scoping review.

Adolescence is an important period of increasing independence, when adolescents experience changing influences of family and friends on their diets as they transition into adulthood. We conducted a scoping review to map the literature on interpersonal determinants of diet quality and eating behaviors among individuals aged 13-30 years. We searched seven literature databases, and following screening, 329 papers were included.

Biochar in the British print news media: an analysis of promissory discourse and the creation of expectations about carbon removal.

Biochar is amongst a growing suite of approaches developed to address the climate crisis by removing carbon dioxide from the atmosphere; yet public awareness of biochar is low. In this situation, mass-media reporting plays an important role in making an issue public and in creating expectations about its risks and benefits. In British broadsheet newspapers, a promissory, future-oriented discourse on biochar has emerged that is rhetorically configured through, for example, evaluative adjectives, verbs, hyperbole, and allusions to literary and cultural symbols that confer a sense of mystique.

Menopausal Hormone Therapy and Ovarian and Endometrial Cancers: Long-Term Follow-Up of the Women's Health Initiative Randomized Trials.

Purpose: Menopausal hormone therapy's influence on ovarian and endometrial cancers remains unsettled. Therefore, we assessed the long-term influence of conjugated equine estrogen (CEE) plus medroxyprogesterone acetate (MPA) and CEE-alone on ovarian and endometrial cancer incidence and mortality in the Women's Health Initiative randomized, placebo-controlled clinical trials.

Materials And Methods: Postmenopausal women, age 50-79 years, were entered on two randomized clinical trials evaluating different menopausal hormone therapy regimens.

Risk factors for long COVID syndrome in postmenopausal women with previously reported diagnosis of COVID-19.

Purpose: Long COVID-19 syndrome occurs in 10-20 % of people after a confirmed/probable SARS-COV-2 infection; new symptoms begin within three months of COVID-19 diagnosis and last > 8 weeks. Little is known about risk factors for long COVID, particularly in older people who are at greater risk of COVID complications.

Methods: Data are from Women's Health Initiative (WHI) postmenopausal women who completed COVID surveys that included questions on whether they had ever been diagnosed with COVID and length and nature of symptoms.

Pre-diagnosis tea and coffee consumption and survival after a diagnosis of ovarian cancer: results from the Ovarian Cancer Association Consortium.

Background: Tea and coffee are the most frequently consumed beverages in the world. Green tea in particular contains compounds with potential anti-cancer effects, but its association with survival after ovarian cancer is uncertain.

Methods: We investigated the associations between tea and coffee consumption before diagnosis and survival using data from 10 studies in the Ovarian Cancer Association Consortium.

Concurrent RB1 Loss and BRCA Deficiency Predicts Enhanced Immunologic Response and Long-term Survival in Tubo-ovarian High-grade Serous Carcinoma.

Purpose: The purpose of this study was to evaluate RB1 expression and survival across ovarian carcinoma histotypes and how co-occurrence of BRCA1 or BRCA2 (BRCA) alterations and RB1 loss influences survival in tubo-ovarian high-grade serous carcinoma (HGSC).

Experimental Design: RB1 protein expression was classified by immunohistochemistry in ovarian carcinomas of 7,436 patients from the Ovarian Tumor Tissue Analysis consortium. We examined RB1 expression and germline BRCA status in a subset of 1,134 HGSC, and related genotype to overall survival (OS), tumor-infiltrating CD8+ lymphocytes, and transcriptomic subtypes.

A prospective study of dietary patterns and the incidence of endometriosis diagnosis.

Background: Although endometriosis is a common condition-affecting ∼10% of premenopausal individuals-its etiology is unknown. Diet receives a lot of attention from patients, but studies of the role of diet are limited. Examining dietary patterns is essential to provide new insight.

The feeding siblings questionnaire (FSQ): Development of a self-report tool for parents with children aged 2-5 years.

Over the last decade, there have been repeated calls to expand the operationalisation of food parenting practices. The conceptualisation and measurement of these practices has been based primarily on research with parent-child dyads. One unexplored dimension of food parenting pertains to the evaluation of practices specific to feeding siblings.

The Impact of Cognitive Behavioral Therapy on Sleep Problems in Autistic Children with Co-occurring Anxiety.

Purpose: This study seeks to examine the relationship between anxiety-symptom severity and sleep behaviors in autistic children receiving cognitive behavioral therapy (CBT).

Methods: We conducted a secondary-data analysis from a sample of 93 autistic youth, 4 to 14 years, participating in 24 weeks of CBT. Clinicians completed the Pediatric Anxiety Rating Scale (PARS) and parents completed the Children's Sleep Habits Questionnaire, Abbreviated/Short Form (CSHQ-SF) at baseline, mid-treatment, post-treatment and 3 months post-treatment.

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.

Background: Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We used data from the Ovarian Cancer Association Consortium (OCAC), Consortium of Investigators of Modifiers of (CIMBA), UK Biobank (UKBB), and FinnGen to identify novel HGSOC susceptibility loci and develop polygenic scores (PGS).

Methods: We analyzed >22 million variants for 398,238 women.

Laparoscopically confirmed endometriosis and anti-Müllerian hormone levels: Findings from the Nurses' Health Study II.

Objective: Anti-Müllerian hormone is a reliable measure of ovarian reserve associated with menopause timing and fertility. Previous studies have observed that individuals with endometriosis have lower anti-Müllerian hormone levels than those without. However, sample sizes have been small and information is limited regarding the long-term influence of endometriosis on anti-Müllerian hormone levels among the general population, which may have important implications for menopause timing and chronic disease risk.

Infertility and risk of postmenopausal breast cancer in the women's health initiative.

Purpose: Although infertility (i.e., failure to conceive after ≥ 12 months of trying) is strongly correlated with established breast cancer risk factors (e.

A balancing act: navigating the nuances of co-production in mental health research.

Background: In the context of mental health research, co-production involves people with lived expertise, those with professional or academic expertise, and people with both of these perspectives collaborating to design and actualize research initiatives. In the literature, two dominant perspectives on co-production emerge. The first is in support of co-production, pointing to the transformative value of co-production for those involved, the quality of services developed through this process, as well as to broader system-level impacts (e.

Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders.

The methyl CpG-binding protein-2 (MECP2) gene is located on the Xq28 region. Loss of function mutations or increased copies of MECP2 result in Rett syndrome (RTT) and MECP2 duplication syndrome (MDS), respectively. Individuals with both disorders exhibit overlapping autism symptoms, yet few studies have dissected the differences between these gene dosage sensitive disorders.