Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12.

Approaches to ensure an equitable and fair admissions process for medical training.

There has been considerable discussion of how best to address racial and ethnic disparities in health outcomes, both globally and specifically in the United States. Increasing diversity among future clinicians and physician-scientists has been identified as a key strategy for addressing and correcting health disparities among underrepresented populations. Increasingly, medical schools, the institutions that train clinicians, have embraced the practice of holistic review for evaluating applicants and virtually all medical schools have reported contributing to a diverse physician workforce as an important aspect of their educational mission.

Marginal Health Care Expenditures and Health-Related Quality of Life Burden in Patients with Osteoporosis in United States.

Background: Osteoporosis, marked by reduced bone density, significantly impacts quality of life. Recent estimates on its economic and humanistic burden in the United States (US) are scarce.

Objective: To evaluate the marginal burden of osteoporosis on total all-cause health care costs and health-related quality of life (HRQoL) in the US.

Day-level associations among alcohol use, simultaneous alcohol and cannabis use, and both regretted and positive romantic/sexual experiences.

Background: Young adults who drink heavily, including those who simultaneously use cannabis, experience both positive and regretted romantic/sexual experiences. Both gender and past sexual assault severity may also play a role in the valence of romantic/sexual experiences. The current study focuses on day-level correlates of romantic/sexual experiences, assessing whether: (1) number of drinks or simultaneous alcohol and cannabis use (vs.

Real-World Treatment Patterns After Discontinuation of Venetoclax or BTKis in the Frontline Setting Among Older Adults With Chronic Lymphocytic Leukemia.

Purpose: Venetoclax and Bruton's tyrosine kinase inhibitors (BTKis) are key treatment options for patients with chronic lymphocytic leukemia (CLL) in the frontline setting. This study characterized postdiscontinuation treatment patterns and hospitalization of frontline venetoclax and BTKis in a national sample of older adults with CLL.

Methods: We identified 1,770 Medicare beneficiaries 66 years and older with CLL initiating venetoclax with obinutuzumab (VEN-O, n = 193) or BTKi treatment (n = 1,577) in the frontline setting between June 01, 2019, and June 30, 2020.

Current Utilization of Bupropion Treatment in Children, Young Adults, and Adults in the United States.

While available for decades, the use of bupropion has increased in recent years. To provide an updated review on the use of bupropion, this article aimed to describe bupropion prescription details, potential indication, and treatment duration in children, young adults, and adults starting bupropion treatment. Individuals aged 6-64 newly initiating bupropion hydrochloride treatment were identified from commercial claims data (MarketScan, 1/1/2016-12/31/2022).

Identification of Cysteine Metabolism Regulator (CymR)-Derived Pentapeptides as Nanomolar Inhibitors of -Acetyl-l-serine Sulfhydrylase (CysK).

The pathway of bacterial cysteine biosynthesis is gaining traction for the development of antibiotic adjuvants. Bacterial cysteine biosynthesis is generally facilitated by two enzymes possessing -acetyl-l-serine sulfhydrylases (OASS), CysK and CysM. In , there exists a single OASS homologue, CysK.

Etiology and correlates of alcohol misuse in early midlife.

Background: Early midlife individuals (ages 30-40) experience demographic shifts that may influence the remainder of adult life. Although new or persistent alcohol misuse is common during this period, early midlife is understudied in alcohol use literature. We examined the heritability of alcohol misuse; the associations between alcohol misuse and sociodemographic factors, physical health, and well-being; and whether these associations were robust in cotwin comparisons.

Tetrahydrocurcumin alleviates di-(2-ethylhexyl) phthalate-induced adipose tissue dysfunction and testicular toxicity in adult mice: possible involvement of adiponectin-adipoR signaling in the testis.

Widespread exposure to endocrine disruptors is associated with metabolic dysfunction and reproductive toxicity. Tetrahydrocurcumin (THC) has attracted attention as it offers protection against obesity and metabolic disorders due to its potent antioxidative and diverse biological properties but its influence and underlying mechanism of action on adipose tissue function and DEHP-induced testicular injury remain unknown. Our results showed that THC (100 mg kg day) administration for 27 weeks enlarged adipocytes while attenuating macrophage infiltration and IL-6 expression in the adipose tissue of male C57BL/6J mice exposed to 5 mg kg day of DEHP.

The Staphylococcus aureus non-coding RNA IsrR regulates TCA cycle activity and virulence.

Staphylococcus aureus has evolved mechanisms to cope with low iron (Fe) availability in host tissues. Staphylococcus aureus uses the ferric uptake transcriptional regulator (Fur) to sense titers of cytosolic Fe. Upon Fe depletion, apo-Fur relieves transcriptional repression of genes utilized for Fe uptake.

A deep learning framework deploying segment anything to detect pan-cancer mitotic figures from haematoxylin and eosin-stained slides.

Mitotic activity is an important feature for grading several cancer types. However, counting mitotic figures (cells in division) is a time-consuming and laborious task prone to inter-observer variation. Inaccurate recognition of MFs can lead to incorrect grading and hence potential suboptimal treatment.

Eleven Grand Challenges for Inflammatory Bowel Disease Genetics and Genomics.

The past 2 decades have witnessed extraordinary advances in our understanding of the genetic factors influencing inflammatory bowel disease (IBD), providing a foundation for the approaching era of genomic medicine. On behalf of the NIDDK IBD Genetics Consortium, we herein survey 11 grand challenges for the field as it embarks on the next 2 decades of research utilizing integrative genomic and systems biology approaches. These involve elucidation of the genetic architecture of IBD (how it compares across populations, the role of rare variants, and prospects of polygenic risk scores), in-depth cellular and molecular characterization (fine-mapping causal variants, cellular contributions to pathology, molecular pathways, interactions with environmental exposures, and advanced organoid models), and applications in personalized medicine (unmet medical needs, working toward molecular nosology, and precision therapeutics).

Implementation of the RQI System: Baseline Skills and Self-Report Competence and Confidence Data From 12 NLN Inaugural Change Agent Nursing Programs.

Aim: This article describes the implementation, baseline cardiopulmonary resuscitation (CPR) skills, and competence and confidence in skills of participants in 12 nursing programs piloting the Resuscitation Quality Improvement (RQI) program. Of 1,847 participants, 175 had not previously completed a CPR course.

Method: Schools could choose the sequence for completing baselines skills and required e-learning modules.

A general analogy mass-spring system analytical model for sound reduction of side-branch resonators.

This study introduces a general analytical model designed to predict the sound reduction frequency of side-branch resonators, regardless of their geometric shapes. Grounded in a continuous analogy mass-spring system, we conceptualize the air within the branch cavity of the resonator as a series of infinitesimal continuous air layers. Each air layer is represented as a mass-spring unit, influenced by the pressure distribution inside the branch cavity.

Social rejection amplifies the value of choice.

Social rejection has been routinely associated with negative physical and mental health outcomes. However, less is known about how social rejection impacts cognitive processes, including our decision-making abilities. This is critical to understand, given how ubiquitous experiences of rejection have become in the current era of social media.

Breaking the silence: The role of extracellular vesicles in unraveling the diagnosis and treatment of endometriosis.

Cell-to-cell communication is believed to be facilitated by membrane-bound vesicles called extracellular vesicles (EVs), which are released by cells. Protein, lipids, and nucleic acids are major cargo of EVs and are transported in these vesicles. Depending on the parent and recipient cell types, they can affect a wide variety of biological processes in the tissues to which they are delivered.

Landscape and prognostic significance of oncogene drivers in metastatic castration sensitive prostate cancer.

Background: Tumor suppressors are well known drivers of cancer invasion and metastasis in metastatic castration sensitive prostate cancer (mCSPC). However, oncogenes are also known to be altered in this state, however the frequency and prognosis of these alterations are unclear. Thus, we aimed to study the spectrum of oncogene mutations in mCSPC and study the significance of these alteration on outcomes.

Independent and Interactive Impacts of Prenatal Exposure to Legal Substances and Childhood Trauma on Emotion Processing in Pre-Adolescents: Preliminary Findings From the ABCD Study.

Objective: This paper investigated the effects of prenatal drug exposure (PDE), childhood trauma (CT), and their interactions on the neurobiological markers for emotion processing.

Method: Here, in a non-clinical sample of pre-adolescents (9-10 years of age) from the Adolescent Brain Cognitive Development (ABCD) Study (N = 6,146), we investigate the impact of PDE to commonly used substances (ie, alcohol, cigarettes, and marijuana), CT, and their interaction on emotion processing. From the Emotional N-back functional magnetic resonance imaging task data, we selected 26 regions of interests, previously implicated in emotion processing, and conducted separate linear mixed models (108 total) and accounted for available environmental risk factors.

Planning for the Future: Advance Care Planning Knowledge, Discussion and Decision-Making Among Older, Sexual Minority Adults.

Prior research has shown that advance care planning (ACP) knowledge and discussion varies among racial and ethnic groups. However, little is known if similar disparities exist within the sexual minority (SM) population. To investigate racial disparities in ACP knowledge, discussion, and decision making within the SM population.

Evaluation of imputation performance of multiple reference panels in a Pakistani population.

Genotype imputation is crucial for GWAS, but reference panels and existing benchmarking studies prioritize European individuals. Consequently, it is unclear which publicly available reference panel should be used for Pakistani individuals, and whether ancestry composition or sample size of the panel matters more for imputation accuracy. Our study compared different reference panels to impute genotype data in 1814 Pakistani individuals, finding the best performance balancing accuracy and coverage with meta-imputation with TOPMed and the expanded 1000 Genomes (ex1KG) reference.

Arriba y Adelante: Looking Outward and Moving Ahead.

Judith E. Deutsch, PT, PhD, FAPTA, the 55th McMillan Lecturer, is professor and director of the Research in Virtual Environments and Rehabilitation Sciences (Rivers) Lab in the Doctoral Programs in Physical Therapy in the School of Health Professions at Rutgers University. Her current research includes the development and testing of virtual reality, serious games to improve mobility and fitness of individuals with neurologic health conditions, and knowledge translation to strengthen evidence-based practice.