Consortium profile: the methylation, imaging and NeuroDevelopment (MIND) consortium.

Epigenetic processes, such as DNA methylation, show potential as biological markers and mechanisms underlying gene-environment interplay in the prediction of mental health and other brain-based phenotypes. However, little is known about how peripheral epigenetic patterns relate to individual differences in the brain itself. An increasingly popular approach to address this is by combining epigenetic and neuroimaging data; yet, research in this area is almost entirely comprised of cross-sectional studies in adults.

Adults With Congenital Heart Disease Have an Increased Prevalence of Autoimmunity.

Background: Adult congenital heart disease (ACHD) individuals have increased risk of noncardiac comorbidities including cancer and infections. Whether they are at increased risk of autoimmunity is unknown.

Objectives: The purpose of this study was to understand the association of ACHD and risk for autoimmunity.

A Distinct Immunological Signature in Late-Onset Myasthenia Gravis: Insights from an Exploratory Proteomics Study.

Objective: Approximately 80% of patients with myasthenia gravis (MG) have autoantibodies against acetylcholine receptor, and clinical characteristics may vary between early-onset (symptom onset age <50 years) and late-onset MG (EOMG and LOMG), but the pathophysiological differences between EOMG and LOMG are not well established.

Methods: We performed an exploratory in-depth proteomics analysis examining 768 inflammatory proteins utilizing the baseline serum samples from the BeatMG study (NCT02110706). We performed pathway enrichment analysis to assess the pathways involved in LOMG.

Collaborating Across the Globe: The Yale-University of Jordan International Interprofessional Addiction Education Program.

Background: Substance use is a major global public health challenge. A well-trained health care workforce is needed to prevent, address, and treat substance use disorders (SUD) internationally.

Methods: In September 2021, the Yale Schools of Medicine (YSM) and Public Health (YSPH) and the University of Jordan (UJ) collaborated to establish the Yale-UJ Joint Training Program in Addiction Medicine.

Impulsivity and neuroticism share distinct functional connectivity signatures with alcohol-use risk in youth.

Increases in impulsivity and negative affect (e.g., neuroticism) are common during adolescence and are both associated with risk for alcohol-use initiation and other risk behaviors.

Screening for pulmonary hypertension in preterm infants with bronchopulmonary dysplasia: when, how often and does it matter?

Objective: Bronchopulmonary dysplasia (BPD) associated pulmonary hypertension (BPD-PH) is the most severe endotype of BPD; there is insufficient evidence to support the optimal screening strategy in at-risk infants. We hypothesised that serial echocardiography throughout hospitalisation would improve PH detection with increased negative predictive value (NPV) beyond 36 week's postmenstrual age (PMA).

Study Design: This was a single centre cohort study conducted between 2017 and 2023.

Smoking Cessation Duration is associated with the risk of amputation after Revascularization for Chronic Limb-Threatening Ischemia.

Introduction: Although smoking cessation has been shown to improve outcomes after lower extremity revascularization (LER), the impact of cessation duration has not been well defined. This study investigates the impact of two cessation durations on LER outcomes in patients with chronic limb-threatening ischemia (CLTI).

Methods: The Peripheral Vascular Intervention, Infrainguinal Bypass, and Suprainguinal Bypass modules of the Vascular Quality Initiative (VQI) were utilized to identify patients whose first recorded LER occurred between 2016-2024 for CLTI.

Antimicrobial prophylactic strategies in vNOTES: No consensus, but what do we know?

Aim: Vaginal natural orifice transluminal endoscopic surgery (vNOTES) combines vaginal and laparoscopic techniques and is increasingly used in gynecologic surgery. Given the lack of standardized guidelines for antibiotic prophylaxis, this review aims to evaluate infection rates, current prophylactic practices, and recommendations.

Method: A literature search was conducted in PubMed/MEDLINE and the Cochrane Library using Medical Subject Headings (MeSH) and keywords such as "v-NOTES," "infection," "prophylaxis," and "antibiotics".

Kidney Health and Gender-Affirming Hormone Therapy for Transgender and Gender Diverse Individuals.

This review examines the effects of gender-affirming hormone therapy (GAHT) on kidney health in transgender and gender diverse (TGD) populations, which face significant challenges in accessing medical care. GAHT, typically involves estrogen therapy for transgender women and transfeminine individuals, testosterone therapy for transgender men and transmasculine individuals, and therapy regimens for individuals who are nonbinary or identify with another gender not culturally assigned to their sex assigned at birth. Hormone therapy influences biomarkers such as creatinine and cystatin C, which are used in estimating glomerular filtration rate (eGFR).

Breast Tissue Reconstruction Strategies: A Tissue Engineering Approach.

Breast cancer remains the most commonly diagnosed malignancy among women worldwide. Standard treatment often involves mastectomy, followed by chemotherapy and/or radiation. Approximately 40% of patients undergo breast reconstruction to address the physical and psychological effects of tissue loss.

Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations.

WHIM syndrome is typically caused by C-terminal gain-of-function variants in , yet clinical heterogeneity suggests additional genetic modifiers. We investigated a family in which the 22-year-old proband harbored two heterozygous variants: a novel missense variant, c.1022C>A (p.

The role of the 3'-UTR of the chemokine receptor CCR2 and hnRNPA0 in regulating mRNA stability and subcellular distribution in human CD4 T cells.

Introduction: CCR2, a chemokine receptor critical for immune cell migration, inflammation, and HIV infection, is regulated by poorly understood mechanisms.

Methods: This study investigated the unusually long CCR2 3'-UTR's role in post-transcriptional regulation.

Results: The full-length 3'-UTR significantly inhibited reporter gene expression in primary CD4+ T cells and macrophages, likely mediated by RNA binding proteins (RBPs).

Use of FDA Expedited Programs and Development Timelines for New Molecular Entity Drug and New Biologic Approvals by Sponsor Experience.

Industry reports indicate that small biopharmaceutical companies are increasingly launching their own new molecular entities, with first-time companies expected to represent the primary share of blockbuster product launches within the decade. However, company experience may affect the use of Food and Drug Administration (FDA) expedited programs, clinical development times, and FDA review times for new molecular entities and new biologics. Hence, we conducted a cross-sectional study examining all new molecular entity (NME) drug and new biologic approvals by the FDA from 2015 through 2022.

Associations Among Demographic and Clinical Characteristics and Discrimination Experiences of Autistic Youth.

Purpose: Autistic individuals experience discrimination as a neurominority. Nonetheless, there has been limited research on characteristics or factors contributing to discrimination against autistic people. Therefore, this study sought to examine demographic and clinical predictors of discriminatory experiences of autistic children and adolescents utilizing a large, population-based sample.

Cideb knockdown in mice increases mitochondrial fat oxidation and reverses hepatic steatosis and insulin resistance by the plasma membrane sn-1,2-DAGs-PKCε-insulin receptor kinase pathway.

Aims/hypothesis: CIDEB (cell death-inducing DFF45-like effector B) deficiency is associated with a reduced incidence of metabolic dysfunction-associated steatotic liver disease (MASLD) in humans; however, the underlying mechanism responsible for this protective effect remains unclear.

Methods: C57BL/6J male mice were fed a high-fat diet (HFD) to recapitulate key aspects of MASLD and hepatic insulin resistance. Cideb knockdown (KD) was achieved using a 2'-O-methoxyethyl (MOE) antisense oligonucleotide (ASO).

Crowdfunding for stroke: a national analysis.

Background: Stroke imposes an enormous economic burden on patients and caregivers. Online crowdfunding is widely used to address healthcare costs, reflecting social safety net gaps, yet it has not been studied for stroke. We performed the first national analysis of stroke-related crowdfunding, evaluating fund totals, success rates, geography, and stroke etiology.

A Decade of Interactive Educational Exchange: Impacting Interprofessional Palliative Care Education.

The interprofessional clinical practice model is arguably the most impactful and generative aspect of hospice and palliative care (HPC) clinical practice. This article describes the innovative shared interprofessional leadership model, andragogical infrastructure, program development, educational impact, and critical lessons from the Interactive Educational Exchange (IEE). In response to a deficit in interprofessional HPC educational opportunities for rapid scholarship dissemination and mentorship, interprofessional leaders from medicine, social work and nursing proposed and implemented the IEE at the Annual Assembly of Hospice and Palliative Care presented by the American Academy of Hospice and Palliative Medicine and Hospice and Palliative Nurses Association from 2010-2020.

The effect of TERT promoter mutation on predicting meningioma outcomes: a multi-institutional cohort analysis.

Background: Molecular aberrations have been incorporated into tumour classification guidelines of meningioma. TERT-promoter (TERTp) mutation is associated with worse prognosis and is designated a WHO grade 3 biomarker. However, it remains unclear whether TERTp mutation is context-dependent, with other co-occurring genetic alterations potentially driving its association with prognosis.

Age-specific regulation of sociability by hypothalamic Agrp neurons.

Social isolation enhances sociability, suggesting that social behavior is maintained through a homeostatic mechanism. Further, mammalian social needs shift dramatically from infancy through adolescence into adulthood, raising the question of whether the neural mechanisms governing this homeostatic regulation evolve across developmental stages. Here, we show that agouti-related peptide (Agrp) neurons in the arcuate nucleus of the hypothalamus, which are known to drive hunger in adults, are activated by social isolation from weaning through adolescence but not in adulthood.

Reversible compromise of physiological resilience by accumulation of heteroplasmic mtDNA mutations.

Somatically acquired mitochondrial DNA mutations accumulate with age, but the mechanisms and consequences are poorly understood. Here we show that transient injuries induce a burst of persistent mtDNA mutations that impair resilience to future injuries. mtDNA mutations suppressed energy-intensive nucleotide metabolism.

Biased and Inflexible Interpretations of Social Situations Predict Affect Intensity and Variability in Children and Adolescents.

Adolescence is a developmental period characterized by heightened emotionality. Past research indicated that the biased interpretation of social situations (i.e.