Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Introduction: Structural variants (SVs) of the nebulin gene (), including intragenic duplications, deletions, and copy number variation of the triplicate region, are an established cause of recessively inherited nemaline myopathies and related neuromuscular disorders. Large deletions have been shown to cause dominantly inherited distal myopathies. Here we provide an overview of 35 families with muscle disorders caused by such SVs in .

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Purpose: Genomic ascertainment of electronic health record-linked exome data in two large biobanks was used to quantify germline pathogenic/likely pathogenic (P/LP) variant prevalence, cancer prevalence, and survival in adults with non- RAS/mitogen-activated protein kinase genes (RASopathies).

Patients And Methods: Germline RASopathy variants were examined from adult participants in UK Biobank (UKBB; n=469,802), Geisinger MyCode (n=167,050) and Mount Sinai Bio (n=30,470). Variants were classified as per American College of Medical Genetics/Association for Molecular Pathology criteria and reviewed by a RASopathy variant expert.

Practices of maize handling and nixtamalization to reduce fungal toxin exposure in rural Guatemala.

Fungal toxins in local food supplies are a critical environmental health risk to communities globally. To better characterize hypothesized toxin control points among households, we conducted household surveys across four departments (first administrative division) in Guatemala. Data gathered included maize harvesting, processing, storage, and traditional nixtamalization practices.

Selecting repetitive focal and rotational activation patterns with the highest probability of being a source of atrial fibrillation.

Introduction: Repetitive focal and rotational activation patterns are currently used as additional ablation targets for atrial fibrillation (AF). However, there is no evidence that all these detected targets are actual sources of AF. In this paper, we present an approach that detects and ranks AF activation patterns not only based on the degree of pattern repetitiveness but also on the extent to which they are able to entrain their vicinity.

Diabetes medication prescribing trends based on provider type and location in the United States.

Background: As primary care physician numbers continue to decline, more patients with type 2 diabetes are likely to receive care from advanced practice providers (APPs), including physician assistants and nurse practitioners. Analyzing diabetes medication prescribing trends among these provider types is essential for ensuring evidence-based diabetes care. This retrospective, cross-sectional pilot study aimed to examine differences in type 2 diabetes medication prescribing trends by provider type (physicians vs.

Phototherapy to Facilitate Wound Healing Following Pacemaker Infection: A Promising Tool to Improve Outcomes.

Device infection remains a dreaded and increasingly common complication of pacemaker procedures, often mandating removal of all implanted materials. Intensive wound management may be necessary following extraction, requiring multiple follow-up encounters in the outpatient setting. Here, a case of pacemaker pocket infection necessitating complete system extraction is presented.

Femoral Nerve injury from slip and fall: A novel presentation of debilitating injury.

Introduction: Femoral nerve injury is a recognized complication of abdominal, pelvic, and orthopedic surgeries. It can also occur due to pelvic fractures, intra-abdominal trauma, and hip injuries. These injuries often result in pain, weakness, and difficulty with ambulation, significantly impacting a patient's quality of life.

Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patients.

Traditional classification by clinical phenotype or oxidative phosphorylation (OXPHOS) complex deficiencies often fails to clarify complex genotype-phenotype correlations in mitochondrial disease. A multimodal functional assessment may better reveal underlying disease patterns. Using imaging flow cytometry (IFC), we evaluated mitochondrial fragmentation, swelling, membrane potential, reactive oxygen species (ROS) production, and mitochondrial mass in fibroblasts from 31 mitochondrial disease patients.

Minimally Invasive Surgery Deserts: Is There a Role for Robotic Assisted Surgery?

Despite evidence indicating patient and hospital benefits of minimally invasive surgery (MIS) over open surgery, there is still access barriers to MIS. Availability of training and associated learning curve, health literacy, and hospital characteristics (location, size) have been identified as the primary barriers to the adoption of MIS. Robotic assisted surgery could help to overcome some of these barriers and increase access to MIS through easier tele-mentoring and potential for remote access.

Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry.

Background And Aims: Overweight and obesity are modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population, but their prevalence in individuals with heterozygous familial hypercholesterolaemia (HeFH) and whether they confer additional risk of ASCVD independent of LDL cholesterol (LDL-C) remains unclear.

Methods: Cross-sectional analysis was conducted in 35 540 patients with HeFH across 50 countries, in the EAS FH Studies Collaboration registry. Prevalence of World Health Organization-defined body mass index categories was investigated in adults (n = 29 265) and children/adolescents (n = 6275); and their association with prevalent ASCVD.

Lightning Can Strike Twice: Management of an Infant With Anomalous Left Coronary Artery from the Pulmonary Artery Complicated by Coccidioidomycosis Infection.

Cardiac disease in young children can be unrecognized until symptoms are unmasked by a precipitating event, such as an infection. We present a case of anomalous left coronary artery from the pulmonary artery causing clinically significant disease in a four-month-old male with concomitant mitral regurgitation and pulmonary coccidioidomycosis who required modification of his surgical management due to the infection. This case highlights how timely diagnosis and perioperative management and recovery can be affected by concurrent infections in patients with congenital heart disease.

A Critical Appraisal of the Application of Frailty and Sarcopenia in the Spinal Oncology Population.

Study Design: Systematic review and clinimetric analysis.

Objectives: Frailty and sarcopenia predict worse surgical outcomes among spinal degenerative and deformity-related populations; this association is less clear in the context of spinal oncology. Here, we sought to identify frailty and sarcopenia tools applied in spinal oncology and appraise their clinimetric properties.

Impact of age-related changes in buccal epithelial cells on pediatric epigenetic biomarker research.

Cheek swabs, heterogeneous samples consisting primarily of buccal epithelial cells, are widely used in pediatric DNA methylation studies and biomarker creation. However, the decrease in buccal proportion with age in adults remains unexamined in childhood. We analyzed cheek swabs from 4626 typically developing children 2-months to 20-years-old.

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.

Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features.

Functional resting state connectivity is differentially associated with IL-6 and TNF-α in depression and in healthy controls.

Inflammatory processes have been implicated in the pathophysiology of depression. In human studies, inflammation has been shown to act as a critical disease modifier, promoting susceptibility to depression and modulating specific endophenotypes of depression. However, there is scant documentation of how inflammatory processes are associated with neural activity in patients with depression.

The Efficacy and Safety of Angiotensin II for Treatment of Vasoplegia in Critically Ill Patients: A Systematic Review.

Objectives: To summarize evidence regarding intravenous angiotensin II administration in critical illness and provide an updated understanding of its effects on various organ dysfunction and renin-angiotensin system (RAS) biomarkers.

Design: A systematic review.

Setting: A search of PubMed, Embase, and the Cochrane Library from inception to May 3, 2024.

Presentation, Treatment and Outcomes of Brachial Artery Aneurysms.

Objective: Brachial artery aneurysms are rare entities that have typically been associated with trauma, infection, arterio-venous fistula creation or connective tissue disorders. These aneurysms are often asymptomatic, but they can also cause local tenderness or thrombo-embolic events. Due to the very low incidence of true brachial artery aneurysms, there are no standardized guidelines on their optimal management.

Mini Fragment and Small Fragment Screws are Comparable in Acute Syndesmotic Injury.

Ankle fractures are often accompanied by syndesmotic injuries, contributing to instability and potential long term complications. Syndesmotic injuries are traditionally fixed with either small fragment (3.5-mm diameter) or large fragment (4.

Assessment of complementary white matter microstructural changes and grey matter atrophy in the 6-OHDA-induced model of Parkinson's disease.

Parkinson's disease (PD) is a progressive neurodegenerative disorder that is characterized by motor symptoms such as tremors, rigidity, and bradykinesia. Magnetic resonance imaging (MRI) offers a non-invasive means to study PD and its progression. This study utilized the unilateral 6-hydroxydopamine (6-OHDA) rat model of parkinsonism to assess whether white matter microstructural integrity measured using advanced free-water diffusion tensor imaging metrics (fw-DTI) and gray matter density using voxel-based morphometry (VBM) can serve as imaging biomarkers of pathological changes following nigrostriatal denervation.

Single-cell RNA sequencing reveals intrahepatic signature related to pathobiology of duck hepatitis A virus type 3 (DHAV-3) infection.

DHAV-3 is one of the main causative agents of duck viral hepatitis (DVH), an acute and highly lethal infectious disease in duck industry. However, the understanding of the pathogenesis of this virus in ducklings is limited. To dissect the molecular characteristics associated with pathobiology of ducklings to DHAV-3, we applied single-cell RNA-sequencing approach to profile the transcriptome of 1.

Enhanced Recovery After Surgery for patients undergoing radical cystectomy: Surgeons' perspectives and recommendations ten years after its implementation.

Background And Objectives: Enhanced Recovery After Surgery (ERAS) guidelines for Radical Cystectomy (RC) were published over ten years ago. Aim of this systematic review is to update ERAS recommendations for patients undergoing RC and to give an expert opinion on the relevance of each single ERAS item.

Methods: A systematic review was performed to identify the impact of each single ERAS item on RC outcomes.

Imaging appearances of perinephric myxoid pseudotumor of fat (PMPF).

Aim: This study aimed to identify the imaging feature of perinephric myxoid pseudotumor of fat (PMPF) in a large cohort.

Materials And Methods: Institutional radiology and pathology databases were queried for PMPF for the period from January 2010 to December 2023. Of the 22 identified individuals, two were excluded due to nonavailability of computed tomography (CT) or magnetic resonance (MR) images and five due to lack of pathological confirmation.

ZIF-67-derived NiCoO hollow nanocages coupled with g-CN nanosheets as Z-scheme photocatalysts for enhancing CO reduction.

Photocatalytic CO reduction technology plays a significant role in the energy and environmental sectors, highlighting the necessity for developing high-efficiency and stable catalysts. In this study, a novel photocatalyst, xNiCoO/CN (x = 1, 3, and 5 wt%), was synthesized by depositing zeolitic imidazolate framework-67 (ZIF-67)-derived nickel cobaltate (NiCoO) hollow nanocages onto porous graphitic carbon nitride (g-CN, CN) nanosheets for photocatalytic CO reduction. Under visible light irradiation, the resulting 3NiCoO/CN photocatalyst demonstrated exceptional CO yields of up to 2879.