Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.

The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic risks across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries Consortium (GALA) was formed, presenting here the largest sequencing study of ASD in Latin American individuals (n>15,000).

Non-Contact Optical Blood Pressure Biometry Using AI-Based Analysis of Non-Mydriatic Fundus Imaging.

Background: This study was developed to determine whether a machine learning model could be developed to assess blood pressure with accuracy comparable to arm cuff measurements.

Methods: A deep learning model was developed based on the UK Biobank dataset and was trained to detect both systolic and diastolic pressure. The hypothesis was formulated after data collection and before the development of the model.

DEAD/DEAH-box RNA helicases shape the risk of neurodevelopmental disorders.

The DEAD/DEAH-box family of RNA helicases (RHs) is among the most abundant and conserved in eukaryotes. These proteins catalyze the remodeling of RNAs to regulate their splicing, stability, localization, and translation. Rare genetic variants in DEAD/DEAH-box proteins have recently emerged as being associated with neurodevelopmental disorders (NDDs).

Proposed resources required for a comprehensive program for CCT CHD imaging.

Background: Cardiac Computed Tomography (CCT) is increasingly used for evaluation of congenital heart disease (CHD) in patients of all ages. Pediatric and adult congenital heart disease (ACHD) surgical programs require high quality CCT imaging as part of the multimodality imaging support expected of comprehensive care centers. Despite these expectations, there are no benchmarks or defined programmatic elements specific to the performance of CCT in patients with CHD.

Youth Survivors of Human Trafficking: On Improving Healthcare Access and Treatment.

Background And Objectives: Human trafficking (HT) is a public health issue, with adolescents disproportionately at risk for reasons spanning multiple biopsychosocial domains. We explored youth HT survivors' healthcare barriers, experiences, and needs.

Methods: In this qualitative multi-methods study, 24 participants (≤26 years old) with HT experience receiving services from non-profit organizations in San Diego, California completed an electronic survey and were invited to participate in online interviews.

Correlations Between Oculometric Measures and Traditional Clinical Assessments in Multiple Sclerosis.

Background: Oculomotor abnormalities are common in multiple sclerosis (MS) but are not quantitatively evaluated in clinical practice. Oculometric measures (OMs) are characteristics of eye movements captured while performing a visual task, e.g.

Exploring the availability and accessibility of menstrual friendly public toilets (MFPTs) in urban spaces: A global multi-city audit study.

Background: Public toilets enable populations, including those who menstruate, to move through public spaces. Menstrual Friendly Public Toilets (MFPT) are accessible, safe, and clean public toilets that provide those who menstruate the space and resources to navigate cities with dignity and comfort. However, there is little evidence on the status of MFPTs in urban centers.

Clinical significance of a new diagnosis of atrial fibrillation in patients with vascular disease.

Background: The Cardiovascular Outcomes for People Using Anticoagulation Strategies (COMPASS) trial enrolled patients with vascular disease, but excluded patients requiring oral anticoagulation.

Objective: To explore the clinical significance of a new diagnosis of atrial fibrillation (AF) during follow-up.

Methods: New AF was identified from hospitalization, study drug discontinuation and adverse event reports.

Physiological Data Collected from Wearable Devices Identify and Predict Inflammatory Bowel Disease Flares.

Background And Aims: Wearable devices capture physiological signals non-invasively and passively. Many of these parameters have been linked to inflammatory bowel disease (IBD) activity. We evaluated the associative ability of several physiological metrics with IBD flares and how they change before the development of flare.

Use of glucagon-like peptide-1 receptor agonists in people with history of acute pancreatitis: TriNetX analysis.

Introduction: . Glucagon-like peptide-1 receptor agonists (GLP-1RAs) are used in subjects with type 2 diabetes (T2D) and obesity. However, concerns over their association with acute pancreatitis (AP) have emerged.

Oral vancomycin treatment alters levels of indole derivatives and secondary bile acids modulating the expression of mTOR pathway genes in astrocytes during EAE.

Astrocytes play important roles in the central nervous system (CNS) during health and disease. Prior studies have shown that gut commensals derived indole derivatives as well as secondary bile acids modulate astrocyte function during the late stage of EAE (recovery phase). Here we show that administering vancomycin to mice starting during the early stage of EAE improved disease recovery, an effect that is mediated by the gut microbiota.

Dietary phytoestrogens recalibrate socioemotional behavior in C57Bl/6J mice in a sex- and timing-dependent manner.

Estrogens are potent regulators of socioemotional behavior across species. Ubiquitous in human and animal diets, plant-derived phytoestrogens (PE) bind estrogen receptors. While prior work has examined the impact of PE exposure on socioemotional behavior, findings are inconsistent across studies.

Compounding strain: The impact of caregiver strain on health outcomes in older adults with new cancer diagnoses.

Introduction: We sought to examine the association between pre-existing caregiving strain levels and care recipient health outcomes following a new cancer diagnosis.

Materials And Methods: We used the National Health and Aging Trends Study (NHATS) linked with the National Study of Caregiving (NSOC) and Medicare claims to identify older adults receiving family caregiving within one year before an index cancer diagnosis. Caregiving strain was determined using NSOC items of self-reported emotional, physical, and financial difficulties measured before the cancer diagnosis.

Invasive Fungal Diseases in Patients with Multiple Myeloma: Experience at a Large, Urban Referral Center.

Background: Although infections are a leading cause of morbidity and mortality among patients with multiple myeloma (MM), the epidemiology of invasive fungal disease (IFD) is less well characterized in this population than in other hematologic malignancies.

Methods: We conducted a nested 3:1 case-control study of IFD at a large MM referral center to identify risk factors for IFD in this population.

Results: In a cohort of 2960 patients, we identified 32 episodes of IFD among 31 patients between 01/2011 and 06/2019.

Ritlecitinib, a JAK3 /TEC inhibitor, modulates the markers of celiac autoimmunity in alopecia areata and vitiligo patients.

Background: Celiac disease (CeD) has shown an association with autoimmune disorders including vitiligo and alopecia areata (AA). Ritlecitinib, a JAK3 and TEC kinase family inhibitor, has been approved for treatment of patients with AA and is in late-stage development for vitiligo. Ritlecitinib inhibits cytotoxic T cells, NK cells, and B cells which play a role in the pathogenesis of CeD.

Impact of Recent Translational and Therapeutic Developments on Clinical Course of BCR::ABL1-Positive and -Negative Myeloproliferative Neoplasms.

Despite the study of BCR::ABL1-positive and -negative myeloproliferative neoplasms (MPNs) providing seminal insights into cancer biology, tumor evolution and precision oncology over the past half century, significant challenges remain. MPNs are clonal hematopoietic stem cell-derived neoplasms with heterogenous clinical phenotypes and a clonal architecture which impacts the often-complex underlying genetics and microenvironment. The major driving molecular abnormalities have been well characterized, but debate on their role as disease-initiating molecular lesions continues.

Association of social determinants of health with first antiseizure medication prescription for patients with newly diagnosed epilepsy: A systematic review and meta-analysis.

Objective: To assess whether social determinants of health (SDOHs) are associated with the first antiseizure medication (ASM) prescribed for newly diagnosed epilepsy.

Methods: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards were followed, and the protocol registered (CRD42023448998). Embase, Medline, and Web of Science were searched up to July 31, 2023.

New onset refractory status epilepticus: Long-term outcomes beyond seizures.

We propose and prioritize important outcome domains that should be considered for future research investigating long-term outcomes (LTO) after new onset refractory status epilepticus (NORSE). The study was led by the international NORSE Institute LTO Working Group. First, literature describing the LTO of NORSE survivors was identified using a PubMed search and summarized to identify knowledge gaps.

Epicardial adipose tissue, cardiac damage, and mortality in patients undergoing TAVR for aortic stenosis.

Computed tomography (CT)-derived Epicardial Adipose Tissue (EAT) is linked to cardiovascular disease outcomes. However, its role in patients undergoing Transcatheter Aortic Valve Replacement (TAVR) and the interplay with aortic stenosis (AS) cardiac damage (CD) remains unexplored. We aim to investigate the relationship between EAT characteristics, AS CD, and all-cause mortality.

Choroidal thickness under pilocarpine versus cyclopentolate.

Bruch´s membrane (BM) is firmly connected posteriorly to the optic nerve head through the peripapillary choroidal border tissue, and anteriorly through the longitudinal ciliary muscle to the scleral spur. We assessed, whether a difference in the contractile state of the ciliary muscle influences the position of the posterior BM by lifting the posterior BM pole, i.e.

Repeat Procedures After Pulsed Field Ablation for Atrial Fibrillation: MANIFEST-REDO Study.

Background: Initial clinical studies of pulsed field ablation (PFA) to treat atrial fibrillation (AF) indicated a >90% durability rate of pulmonary vein isolation (PVI). However, these studies were largely conducted in single centers and involved a limited number of operators. The electrophysiological findings and outcomes in patients undergoing repeat ablation after an initial PF ablation for AF are incompletely understood.

Vitamin D-related genetic variants and prostate cancer risk in Black men.

Background: The relationship between vitamin D and prostate cancer has primarily been characterized among White men. Black men, however, have higher prostate cancer incidence and mortality rates, chronically low circulating vitamin D levels, and ancestry-specific genetic variants in vitamin D-related genes. Here, we examine critical genes in the vitamin D pathway and prostate cancer risk in Black men.