Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53.

Germline inactivating mutations of the SLC25A1 gene contribute to various human disorders, including Velocardiofacial (VCFS), DiGeorge (DGS) syndromes and combined D/L-2-hydroxyglutaric aciduria (D/L-2HGA), a severe systemic disease characterized by the accumulation of 2-hydroxyglutaric acid (2HG). The mechanisms by which SLC25A1 loss leads to these syndromes remain largely unclear. Here, we describe a mouse model of SLC25A1 deficiency that mimics human VCFS/DGS and D/L-2HGA.

Prognostic Impact of Primary Tumor Size in Thymic Epithelial Tumor: An NCDB-Based Study.

Background: Thymic epithelial tumor (TET) staging has been based on Masaoka-Koga systems or the 8th edition of the TNM classification, which do not use tumor size as a T descriptor. The 9th edition of the TNM classification incorporates tumor size; however, the study on which this classification is based included only 4.4% of patients from North America.

Deployment to bases with open burn pits and mortality of US Military Veterans.

Introduction: Five million US Veterans had possible exposure to open burn pits used for waste disposal through service in Iraq (2003-2011) and Afghanistan (2001-2014). Burn pits generate toxic exposures that may be associated with adverse health outcomes. We examined all-cause and cause-specific mortality in relation to deployment to bases with open burn pits.

Shared Decision-Making in Total Hip and Knee Arthroplasty: Understanding Surgeon and Patient Perspectives Regarding When It Is Time for Surgery.

Background: Although total hip and total knee arthroplasty are highly successful operations, the decision of whether and when to undergo surgery is highly subjective and discretionary, and specific guidelines regarding readiness for surgery remain elusive. The nature of these decisions underscores the importance of shared decision-making, which is founded on the concept that patients substantially contribute to determining their own readiness for surgery. The OPTION survey was developed as a conversation aid to facilitate shared decision-making in the context of total joint arthroplasty.

Impact of SCN10A Polymorphism on Abdominal Pain Perception and Visceral Hypoalgesia in Crohn's Disease and Ulcerative Colitis.

Introduction: Hypoalgesic inflammatory bowel disease (IBD) may provide critical insights into human abdominal pain. This condition was previously associated with homozygosity for a polymorphism (rs6795970, A1073V; 1073 val/val ) related to Na v 1.8, a voltage-gated sodium channel preferentially expressed on nociceptors.

Gauss Newton Method for Solving Variational Problems of PDEs with Neural Network Discretizaitons.

The numerical solution of differential equations using machine learning-based approaches has gained significant popularity. Neural network-based discretization has emerged as a powerful tool for solving differential equations by parameterizing a set of functions. Various approaches, such as the deep Ritz method and physics-informed neural networks, have been developed for numerical solutions.

Companion-based multi-level finite element method for computing multiple solutions of nonlinear differential equations.

The utilization of nonlinear differential equations has resulted in remarkable progress across various scientific domains, including physics, biology, ecology, and quantum mechanics. Nonetheless, obtaining multiple solutions for nonlinear differential equations can pose considerable challenges, particularly when it is difficult to find suitable initial guesses. To address this issue, we propose a pioneering approach known as the Companion-Based Multilevel Finite Element Method (CBMFEM).

Perceived Social Support and Medication Dose Interruption Among Pulmonary Tuberculosis Patients in Western India: A Cross-Sectional Study.

Introduction Despite efforts, tuberculosis (TB) remains a major public health problem in developing countries, and India alone accounts for most of the global TB cases. Although the treatment for TB is highly successful, a significant number of TB patients in India do not complete their assigned treatment. Social support has a key influence on medication adherence for chronic illnesses like diabetes, asthma, HIV, hypertension, cardiovascular diseases, and TB.

Comparing mental health and substance use disorders in patients receiving durable VADs versus transplants: A TriNetX database analysis.

Ventricular assist device (VAD) and cardiac transplant patients experience significant strain on their physical and mental wellbeing postoperatively. Mental health and substance use disorders (MHDs and SUDs) have substantial effects on the quality of life and compliance of transplant and VAD patients. In this study, we compare and characterize MHDs and SUDs between VAD and cardiac allograft patients and transplant list patients with and without VADs.

Leveraging the Clinical Translational Science Award Network to Advance Family Medicine Research.

In this commentary, the authors present opportunities for the family medicine's strategic plan for research to build and expand research infrastructure by leveraging the federally funded Clinical and Translational Science and Clinical and Translational Research Awards programs. These include engaging patients and communities historically underrepresented in research throughout the research design, development, implementation, and dissemination process; building and expanding practice-based research networks; leveraging research resources, facilities, trainings, and mentorship opportunities; obtaining pilot funding; using informatics expertise to improve care quality; and embedding dissemination and implementation science expertise to promote the use of evidence-based interventions in real world clinical primary care settings.

Persistent Short Sleep Duration From Pregnancy to 2 to 7 Years After Delivery and Metabolic Health.

Importance: Short sleep duration during pregnancy and the perimenopausal period has been associated with adverse cardiometabolic outcomes. However, it remains unclear how sleep duration changes after delivery and whether such changes are associated with the cardiometabolic health of birthing people.

Objective: To investigate whether persistently short sleep during pregnancy and after delivery is associated with incident hypertension and metabolic syndrome.

Extending the Environmental influences on Child Health Outcomes (ECHO) Cohort through 2030: Rationale and study protocol.

Early life environmental exposures, even those experienced before conception, can shape health and disease trajectories across the lifespan. Optimizing the detection of the constellation of exposure effects on a broad range of child health outcomes across development requires considerable sample size, transdisciplinary expertise, and developmentally sensitive and dimensional measurement. To address this, the National Institutes of Health (NIH) Environmental influences on Child Health Outcomes (ECHO) Cohort Study is an observational longitudinal pediatric cohort study.

Ultrasound-guided foam sclerotherapy using physician-compounded foam: Position statement from the American vein and lymphatic society.

Chronic venous disease has a major impact on the quality of life of millions of patients. Large randomized controlled trials have established ultrasound-guided foam sclerotherapy (UGFS) as a safe and effective treatment option for both saphenous vein insufficiency and tributary disease. Ultrasound guidance is a critical component of sclerotherapy of non-visible veins.

Short-Term High Light Stress Analysis Through Differential Methylation Identifies Root Architecture and Cell Size Responses.

DNA methylation repatterning is an epigenomic component of plant stress response, but the extent that methylome data can elucidate changes in plant growth following stress onset is not known. We applied high-resolution DNA methylation analysis to decode plant responses to short- and long-term high light stress and, integrating with gene expression data, attempted to predict components of plant growth response. We identified 105 differentially methylated genes (DMGs) following 1 h of high light treatment and 193 DMGs following 1 week of intermittent high light treatment.

Evaluation of the Inaugural Pennsylvania School Nurse Mentorship Program.

The role of a school nurse has evolved due, in part, to complex health conditions and the COVID-19 pandemic. In turn, nurse burnout and early retirement are contributing to school nurse shortages across the United States. Interprofessional support, training, and mentorship are needed to support school nurses new to the field.

Inhibition of thioredoxin reductase 1 sensitizes glucose-starved glioblastoma cells to disulfidptosis.

Disulfidptosis is a recently identified form of cell death characterized by the aberrant accumulation of cellular disulfides. This process primarily occurs in glucose-starved cells expressing higher levels of SLC7A11 and has been proposed as a therapeutic strategy for cancers with hyperactive SCL7A11. However, the potential for inducing disulfidptosis through other mechanisms in cancers remains unclear.

Cross-disease modeling of peripheral blood identifies biomarkers of type 2 diabetes predictive of Alzheimer's disease.

Type 2 diabetes (T2D) is a significant risk factor for Alzheimer's disease (AD). Despite multiple studies reporting this connection, the mechanism by which T2D exacerbates AD is poorly understood. It is challenging to design studies that address co-occurring and comorbid diseases, limiting the number of existing evidence bases.

Caring for young adult men with inflammatory bowel disease: Clinician and patient perspectives.

Inflammatory bowel disease (IBD) presents unique challenges for young adult men that extend beyond physical symptoms, encompassing psychosocial dimensions affecting all aspects of life. This article draws insights from a roundtable discussion facilitated by the Crohn's and Colitis Young Adults Network (CCYAN), focusing on the experiences of young men living with IBD. It sheds light on the intersections of IBD and men's sexual and reproductive health, fertility, and mental well-being while identifying gaps in care.

Time-dependent variation in immunoparalysis biomarkers among patients with sepsis and critical illness.

Introduction: Immunoparalysis is a state of immune dysfunction characterized by a marked reduction in the immune system's responsiveness, often observed following severe infections, trauma, or critical illness. This study aimed to perform a longitudinal assessment of immune function over the initial two weeks following the onset of sepsis and critical illness.

Methods: We compared ex vivo-stimulated cytokine release from whole blood of critically ill patients to traditional markers of immunoparalysis, including monocyte Human Leukocyte Antigen (mHLA)-DR expression and absolute lymphocyte count (ALC).

Human transporter de-oligomerization regulates copper uptake into cells.

Copper is an essential element involved in various biochemical processes, such as mitochondrial energy production and antioxidant defense, but improper regulation can lead to cellular toxicity and disease. Copper Transporter 1 (CTR1) plays a key role in copper uptake and maintaining cellular copper homeostasis. Although CTR1 endocytosis was previously thought to reduce copper uptake when levels are high, it was unclear how rapid regulation is achieved.

Randomized Trial of Pulsatile and Nonpulsatile Flow in Cyanotic and Acyanotic Congenital Heart Surgery.

Background: The study objective was to determine the impact of cardiopulmonary bypass perfusion modalities on cerebral hemodynamics and clinical outcomes in congenital cardiac surgery patients stratified by acyanotic versus cyanotic heart disease.

Methods: A total of 159 pediatric (age <18 years) cardiac surgery patients were prospectively randomized to pulsatile or nonpulsatile cardiopulmonary bypass and stratified by type of congenital heart disease: acyanotic versus cyanotic. Intraoperative cerebral gaseous microemboli counts and middle cerebral artery pulsatility index were assessed.

Prevalence of cancer risk behaviors by county-level persistent poverty.

Background: Cancer mortality rates are substantially higher in persistent poverty US counties compared to non-persistent poverty US counties. This study aimed to assess the prevalence of cancer risk behaviors by persistent poverty.

Methods: Counties with poverty rates of ≥ 20 % between 1990 and 2017-21 were classified as 'persistent poverty' (n = 318), and others were classified as 'non-persistent poverty' (n = 2801).