Uncovering somatic mosaic variants of -related overgrowth disorders - three cases with different clinical presentations.

Introduction: related disorders (PRD, OMIM: *171834) are genetic disorders resulting from pathogenic somatic mosaic variants in the gene, which encodes a protein crucial for regulating cell growth and division. PRD typically manifest during the post-zygotic phase, leading to a broad spectrum of overgrowth and vascular malformations affecting various body regions.

Methods: Conventional diagnostic methods struggle to detect and confirm pathogenic PIK3CA gene variants due to the mosaic nature of these disorders and the limited accessibility of affected tissues.

Immune Profile Differences between IgG4-Related Diseases and Primary Sjögren's Syndrome.

Purpose: Immunoglobulin G4-related disease (IgG4-RD) share clinical features with primary Sjögren's syndrome (pSS). This study aimed to identify altered serological parameters and potential biomarkers of IgG4-RD and pSS.

Methods: Forty IgG4-RD patients, 40 pSS patients, and 40 healthy controls (HC) were enrolled in this study.

Case report of recurrent vasa previa.

Introduction: Vasa previa is a complication of pregnancy, which affects approximately 1:1200 pregnancies, and when undiagnosed prenatally, it can be associated with significant perinatal mortality. This condition is thought to be a sporadic entity without known genetic or familial associations and thus considered to carry a negligible recurrence risk.

Key Findings: We present a case of a 42-year-old gravida 3 para 2 diagnosed on transvaginal ultrasound with a vasa previa at 34 weeks associated with vaginal bleeding, which required an urgent caesarean in a prior spontaneous pregnancy.

A prospective study of diagnostic testing and hospital charges after brief resolved unexplained event.

Objectives: To evaluate diagnostic testing frequency/yield and determine drivers of hospital charges in a prospective cohort of infants with brief resolved unexplained event (BRUE) to test the hypothesis that length of stay (LOS), low-yield diagnostic testing, and repeat hospital visits increase costs.

Methods: We conducted a prospective cohort study of infants admitted after BRUE to determine how clinical practice impacts the cost of care. Charge data from our institution's billing records database included room and board, diagnostics, medications, and professional fees for index hospitalizations and 6-month follow-ups.

Durable suppression of seizures in a preclinical model of KCNT1 genetic epilepsy with divalent small interfering RNA.

Objective: Gain-of-function variants in the KCNT1 gene, which encodes a sodium-activated potassium ion channel, drive severe early onset developmental epileptic encephalopathies including epilepsy of infancy with migrating focal seizures and sleep-related hypermotor epilepsy. No therapy provides more than sporadic or incremental improvement. Here, we report suppression of seizures in a genetic mouse model of KCNT1 epilepsy by reducing Kcnt1 transcript with divalent small interfering RNA (siRNA), an emerging variant of oligonucleotide technology developed for the central nervous system.

Parental Style, Grandchild Problematic Behaviors, and Parental Role Demands Among Grandparent Caregivers.

The present study evaluates the impact of grandchild distress on parental competence as mediated by Baumrind's parental styles in a sample of 238 custodial grandparents ( age = 58.06). AMOS structural equation findings yielded a model which indicated that both the Laissez-Faire and Authoritarian styles each predicted role stress and/or parental efficacy.

Extracting Housing and Food Insecurity Information From Clinical Notes Using cTAKES.

Objective: To assess the utility and challenges of using natural language processing (NLP) in electronic health records (EHRs) to ascertain health-related social needs (HRSNs) among older adults.

Study Setting And Design: We extracted HRSN information using the NLP system Clinical Text Analysis and Knowledge Extraction System (cTAKES), combined with Concept Unique Identifiers and Systematized Nomenclature for Medicine codes. We validated cTAKES performance, via manual chart review, on two HRSNs: food insecurity, which was included in the healthcare system's HRSN screening tool, and housing insecurity, which was not.

Couple-Based Intervention to Improve HIV Care Engagement for Women and their Partners in KwaZulu-Natal, South Africa: Outcomes of a Pilot Randomized Controlled Trial.

We evaluated a couple-based intervention targeting human immunodeficiency virus (HIV) care needs of women, with the option to support HIV-related needs of male partners. Adult women with HIV adherence difficulties in a monogamous relationship with a male partner for ≥6 months were recruited in KwaZulu-Natal, South Africa. Twenty couples were randomized (1:1) to either START Together, a five-session manualized behavioral intervention, or treatment as usual, adherence counseling referral.

Lesion Formation in Cardiac Pulsed-Field Ablation: Acute to Chronic Cellular Level Changes.

As pulsed-field ablation (PFA) emerges as a promising therapy for atrial arrhythmias, an understanding of the cellular injury to cardiac tissue is critical to evaluating and interpreting results for each PFA system. This review aims to detail the mechanism of cell death for PFA, compare the cell death mechanism to thermal ablation modalities, clarify common histology markers, detail the progression of PFA lesions from the acute, to subacute, to chronic maturation states, and discuss clinical indicators of PFA lesions.

Supporting students through the COVID-19 pandemic: the perspectives of food pantry workers.

Background: College students in the United States are disproportionately impacted by food insecurity, which is associated with diminished health outcomes and poor academic performance. One key resource to support students through periods of food insecurity are on-campus food pantries, which distribute food, personal hygiene products, and other essential items. But as colleges and universities navigated through the COVID-19 pandemic, many campuses closed their food pantries as the demand for their services among students grew.

Effect of census-based correction of population figures on mortality rates in Germany.

Background: The population figures in Germany are obtained by updating the results of the latest census with information from the statistics on birth, deaths and migration statistics. The Census 2011 in Germany corrected population figures, which have only been updated over a long period of time. The aim of this work is to show the effect of the census-based correction of the population figures on the magnitude of mortality rates in Germany 2011-2013.

Scalable information extraction from free text electronic health records using large language models.

Background: A vast amount of potentially useful information such as description of patient symptoms, family, and social history is recorded as free-text notes in electronic health records (EHRs) but is difficult to reliably extract at scale, limiting their utility in research. This study aims to assess whether an "out of the box" implementation of open-source large language models (LLMs) without any fine-tuning can accurately extract social determinants of health (SDoH) data from free-text clinical notes.

Methods: We conducted a cross-sectional study using EHR data from the Mass General Brigham (MGB) system, analyzing free-text notes for SDoH information.

Headache after pediatric traumatic brain injury: a comparison between a post-acute sample of children and adolescents and general population.

Background: Headache is one of the most common post-concussion symptoms following pediatric traumatic brain injury (TBI). To better understand its impact on young individuals, this study aims to investigate the prevalence of headache in a German-speaking post-acute pediatric TBI sample and compare it with the general population. In addition, factors associated with the development of pediatric post-TBI headache are investigated to improve the understanding of this condition.

Bioaccumulation of perfluorooctane sulfonic acid (PFOS) and oxidative stress in snapping turtles in New York, USA.

Perfluorooctane sulfonic acid (PFOS) is an anthropogenic chemical found in aqueous film-forming foams (AFFFs) and many consumer products. Despite its environmental ubiquity and persistence, little is known about the effects of PFOS on stress levels in wild animals. Here, we examined PFOS bioaccumulation and correlations between PFOS exposure and oxidative stress in snapping turtles (Chelydra serpentina) downstream of Griffiss Air Force Base in Rome, New York, a known source of AFFF contamination.

Design and Validation of a High-Fidelity Left Atrial Cardiac Simulator for the Study and Advancement of Left Atrial Appendage Occlusion.

Purpose: Atrial fibrillation (AF) is the most common chronic cardiac arrhythmia that increases the risk of stroke, primarily due to thrombus formation in the left atrial appendage (LAA). Left atrial appendage occlusion (LAAO) devices offer an alternative to oral anticoagulation for stroke prevention. However, the complex and variable anatomy of the LAA presents significant challenges to device design and deployment.

Rethinking the residual approach: leveraging statistical learning to operationalize cognitive resilience in Alzheimer's disease.

Cognitive resilience (CR) describes the phenomenon of individuals evading cognitive decline despite prominent Alzheimer's disease neuropathology. Operationalization and measurement of this latent construct is non-trivial as it cannot be directly observed. The residual approach has been widely applied to estimate CR, where the degree of resilience is estimated through a linear model's residuals.

Selective use of ferumoxytol-enhanced magnetic resonance angiography in patients with renal insufficiency: insights from a pilot study.

The use of conventional contrast agents in computed tomography (CT) and magnetic resonance (MR) imaging is often limited in patients with chronic kidney disease (CKD) due to potential nephrotoxicity. Ferumoxytol, originally developed for iron supplementation, has emerged as a promising alternative MR contrast agent that is safer for patients with CKD. This study aims to present our center's experience with ferumoxytol as a contrast agent in CKD patients.

Rome Foundation Working Team Report on overlap in disorders of gut-brain interaction.

In patients with disorders of gut-brain interaction (DGBI), overlapping non-gastrointestinal conditions such as fibromyalgia, headaches, gynaecological and urological conditions, sleep disturbances and fatigue are common, as is overlap among DGBI in different regions of the gastrointestinal tract. These overlaps strongly influence patient management and outcome. Shared pathophysiology could explain this scenario, but details are not fully understood.

Determining the QRS axis: visual estimation is equal to calculation.

Background: The QRS axis of the electrocardiogram (ECG) is often considered in clinical practice, but its determination is frequently limited to a rough estimation, such as "normal", with left or right deviation, and superior or inferior in the case of premature ventricular complexes (PVCs). However, a more exact determination of the QRS axis may be warranted in certain scenarios, such as to determine the origin of PVCs more precisely, and is attainable by visual estimation using the hexaxial reference system.

Objectives: The aim of this study was to determine how well such an estimation of the QRS axis would correlate with the axis calculated by formulas.

Exposomics: a review of methodologies, applications, and future directions in molecular medicine.

The exposome is the measure of all the exposures of an individual in a lifetime and how those exposures relate to health. Exposomics is the emerging field of research to measure and study the totality of the exposome. Exposomics can assist with molecular medicine by furthering our understanding of how the exposome influences cellular and molecular processes such as gene expression, epigenetic modifications, metabolic pathways, and immune responses.

Machine learning meta-analysis identifies individual characteristics moderating cognitive intervention efficacy for anxiety and depression symptoms.

Cognitive training is a promising intervention for psychological distress; however, its effectiveness has yielded inconsistent outcomes across studies. This research is a pre-registered individual-level meta-analysis to identify factors contributing to cognitive training efficacy for anxiety and depression symptoms. Machine learning methods, alongside traditional statistical approaches, were employed to analyze 22 datasets with 1544 participants who underwent working memory training, attention bias modification, interpretation bias modification, or inhibitory control training.