MixDeR: A SNP mixture deconvolution workflow for forensic genetic genealogy.

The generation of forensic DNA profiles consisting of single nucleotide polymorphisms (SNPs) is now being facilitated by wider adoption of next-generation sequencing (NGS) methods in casework laboratories. At the same time, and in part because of this advance, there is an intense focus on the generation of SNP profiles from evidentiary specimens for so-called forensic or investigative genetic genealogy (FGG or IGG) applications. However, FGG methods are constrained by the algorithms for genealogical database searches, which were designed for use with single-source profiles, and the fact that many forensic samples are mixtures.

Infection rate following mandibular distraction with internal and external devices in infants.

Background: Internal and external devices may be utilized in mandibular distraction osteogenesis (MDO) for the correction of symptomatic micrognathia in infants and children.

Purpose: To compare the rate and severity of infection between internal and external MDO devices.

Study Design, Setting, Sample: Retrospective cohort study utilizing an institutional database of patients who underwent MDO.

Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.

Objectives: Define the extent to which pathogenic GJB2 (gap junction beta-2) variants are responsible for non-syndromic hearing loss (NSHL) in the Asian population.

Methods: Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines were followed. CINAHL, Embase, and PubMed's MEDLINE were accessed from 1997 to 2023 using permutations of the MeSH terms: "Asian," ''Southeast Asian,'' "South Asian," "East Asian," "Southeastern Asian," and "GJB2.

Prevalence of chronic hepatitis B virus infection among children in Uzbekistan: Impact of vaccination.

Background: Uzbekistan, a highly endemic country for hepatitis B virus (HBV), introduced infant vaccination with hepatitis B vaccine (HepB) in 2001. Since 2002, it had ≥90 % reported immunization coverage for ≥3 doses of HepB (HepB3) and the birth dose (HepB-BD). However, the impact of HepB vaccination and the progress towards achieving the regional hepatitis B control and global viral hepatitis B elimination goals had not been assessed.

Groundwater flowpath characteristics drive variability in per- and polyfluoroalkyl substances (PFAS) loading across a stream-wetland system.

Groundwater-dependent ecosystems in areas with industrial land use are at risk of exposure to a PFAS chemicals. We investigated one such system with several known PFAS source areas, where high and low permeability sediments (glacial) coupled with groundwater-lake and groundwater/surface-water interactions created complex 'source to seep' dynamics. Using heat-tracing and chemical methods, numerous preferential groundwater discharge zones were identified and sampled across the upper Quashnet River stream-wetland system in Mashpee, MA, USA, downgradient of Joint Base Cape Cod (JBCC).

Demographic patterns in horseback riding head and neck injuries within the United States: A NEISS database study.

Objective: Our primary objective was to identify and describe demographic trends in head and neck injuries incurred while participating in horseback riding.

Study Design: Cross-sectional analysis.

Setting: National Database.

Are AI chatbots concordant with evidence-based cancer screening recommendations?

Objective: This study aimed to assess whether information from AI chatbots on benefits and harms of breast and prostate cancer screening were concordant with evidence-based cancer screening recommendations.

Methods: Seven unique prompts (four breast cancer; three prostate cancer) were presented to ChatGPT in March 2024. A total of 60 criteria (30 breast; 30 prostate) were used to assess the concordance of information.

Racial equity in and through medical interaction scholarship: A scoping review.

Objective: We conducted a systematic scoping review to characterize the landscape of communication scholarship within racial health equity in and through the patient-provider interaction.

Methods: We employed three waves of data collection to identify relevant articles (N = 454) about racial equity within provider-patient interactions. We iteratively developed a codebook concerning article characteristics, coding for journal names, data source, descriptive characteristics for the study samples, and presence of theory and equity in sections of the manuscripts.

SEPO-FI: Deep-learning based software to calculate fusion index of muscle cells.

The fusion index is a critical metric for quantitatively assessing the transformation of in vitro muscle cells into myotubes in the biological and medical fields. Traditional methods for calculating this index manually involve the labor-intensive counting of numerous muscle cell nuclei in images, which necessitates determining whether each nucleus is located inside or outside the myotubes, leading to significant inter-observer variation. To address these challenges, this study proposes a three-stage process that integrates the strengths of pattern recognition and deep-learning to automatically calculate the fusion index.

Short and mid-term research priorities for Veterans with multiple sclerosis: A modified Delphi process engaging Veterans, researchers, and operational partners.

Background/objective: Identifying research priorities of Veterans, MS researchers, and key stakeholders is critical to advance high-quality, evidence-based, and Veteran-specific MS care.

Methods: We used a modified Delphi approach to identify research priorities for Veterans with MS. Electronic surveys were distributed to Veterans with MS (n = 50,975), MS researchers (n = 191), VA healthcare providers (1,337), and funding agency representatives (n = 6) asking about their 2-3 most important research questions that would benefit Veterans with MS for researchers to answer in the next 5-10 years.

You better keep an eye on your contacts.

Membrane contact sites (MCS) are specialized compartments found in all eukaryotic cells that are formed between membranes of different organelles that are in close proximity. MCS have important functions as they are sites of efficient transfer of molecules between neighboring organelles. Two recent articles have used the splitFAST system to mark and follow the dynamics of membrane contact sites and used the method to highlight the importance of MCS between the endoplasmic reticulum (ER) and lipid droplets in metabolic adaptation and MCS between the ER and mitochondria in Ca signal propagation.

Heterogeneous distribution of the reported prevalence of Dirofilaria immitis infections in Australian canids - A systematic review and meta-analysis.

Reports of Dirofilaria immitis infection vary by location in the USA and Europe, with an occurrence gradient increasing towards the equator and warmer climates. In Australia, heartworm preventative guidelines are not climate specific, implying homogenous risk of infection across the continent. We systematically reviewed the published literature to assess if the distribution of D.

Differential expression of vascular endothelial growth factor A (VEGFA) and M1 macrophage marker nitric oxide synthase 2 (NOS2) in lymph node granulomas of BCG-vaccinated and non-vaccinated cattle infected with Mycobacterium bovis.

Bovine tuberculosis is mainly caused by Mycobacterium bovis. Bacillus Calmette-Guérin (BCG) is an attenuated strain of M. bovis which provides variable disease protection.

The Hao-Fountain syndrome protein USP7 regulates neuronal connectivity in the brain via a novel p53-independent ubiquitin signaling pathway.

Mutation or deletion of the deubiquitinase USP7 causes Hao-Fountain syndrome (HAFOUS), which is characterized by speech delay, intellectual disability, and aggressive behavior and highlights important unknown roles of USP7 in the nervous system. Here, we conditionally delete USP7 in glutamatergic neurons in the mouse forebrain, triggering disease-relevant phenotypes, including sensorimotor deficits, impaired cognition, and aggressive behavior. Although USP7 deletion induces p53-dependent neuronal apoptosis, most behavioral abnormalities in USP7 conditional knockout mice persist following p53 loss.

A 2D cell segmentation protocol for monitoring multiple STAT signaling pathways by fluorescence microscopy.

Microscopic cell segmentation typically requires complex imaging, staining, and computational steps to achieve acceptable consistency. Here, we describe a protocol for the high-fidelity segmentation of the nucleus and cytoplasm in cell culture and apply it to monitor interferon-induced signal transducer and activator of transcription (STAT) signaling. We provide guidelines for sample preparation, image acquisition, and segmentation.

Coping after the COVID-19 pandemic: nurses' learning intent and implications for the workforce and education.

Background/aim: Addressing the critical global shortage of nurses requires an understanding of how a global pandemic reshaped nurses' motivations and intentions toward education. This study aimed to describe COVID-19's impact on nurses' intent to pursue additional education.

Method: This descriptive study, based in North Carolina in the USA, used content analysis with an inductive approach to examine the responses of nurses to one open-ended question in a large quantitative workforce survey: how has COVID-19 influenced your plans for future education? Responses were coded with counts and organised into themes and subthemes.

Safety and Efficacy of Fecal Microbiota, Live-jslm (REBYOTA®), for the Prevention of Recurrent Clostridioides difficile Infection in Participants With Inflammatory Bowel Disease in PUNCH CD3-OLS.

Background: Fecal microbiota, live-jslm (RBL; REBYOTA®), is the first single-dose, broad consortia, microbiota-based live biotherapeutic approved by the US Food and Drug Administration to prevent recurrent Clostridioides difficile infection (rCDI) in adults following standard-of-care antimicrobials. Inflammatory bowel disease (IBD) is a common risk factor for rCDI, yet patients with IBD are often excluded from prospective trials. This subgroup analysis of PUNCH CD3-OLS (NCT03931941) evaluated the safety and efficacy of RBL in participants with rCDI and IBD.

Association Between Early Childhood P300 Deficits and Risk for Preadolescence Depressive Disorder Mediated by Responsiveness to PCIT-ED Treatment.

Preschool-onset major depressive disorder (PO-MDD) is an impairing pediatric mental health disorder that impacts children as young as three years old. There is limited work dedicated to uncovering neural measures of this early childhood disorder which could be leveraged to further understand both treatment responsiveness and future depression risk. Event-related potentials (ERPs) such as the P300 have been employed extensively in adult populations to examine depression-related deficits in cognitive and motivational systems.

Health-Related Quality of Life Among Patients Who Have Survived an Episode of Sepsis in the United States: A Systematic Review.

Introduction: Sepsis is a serious condition that may lead to death or profoundly affect the well-being of those who survive. The aim of this systematic review was to identify and summarize evidence on the impact of all-cause sepsis on health-related quality of life (HRQoL), physical, cognitive, and psychological outcomes among sepsis survivors in the USA.

Methods: Studies assessing HRQoL, physical, cognitive, and psychological outcomes in patients who survived an episode of sepsis and published from January 1, 2010, to September 30, 2023, were systematically identified through EMBASE, MEDLINE, and MEDLINE In-Process databases, as well as through gray literature.

A rare case of primary testicular follicular lymphoma in a pediatric patient.

Testicular follicular lymphoma (TFL) is an exceedingly rare lymphoma that typically occurs in young male patients and is now recognized as a distinct diagnostic entity in the International Consensus Classification. TFL shows some clinicopathologic and genetic overlap with pediatric-type follicular lymphoma (PTFL). We report a case of TFL occurring in an otherwise healthy 4-year-old boy who presented with painless scrotal swelling.

Ensuring Medical Device Safety: The Role of Standards Organizations and Regulatory Bodies.

Medical devices significantly enhance healthcare by integrating advanced technology to improve patient outcomes. Ensuring their safety and reliability requires a delicate balance between innovation and rigorous oversight, managed through the collaborative efforts of standards development organizations, standards accrediting organizations, and regulatory agencies such as the U.S.

Adjuvant radiation therapy improves outcome of patients with surgical resected adrenocortical carcinoma.

Purpose: Adrenocortical carcinoma (ACC) is a rare malignancy known for high rates of recurrence and poor prognosis. Previous studies revealed controversial roles of adjuvant radiation therapy (RT) in patient management. This study aimed to investigate the role of adjuvant RT in postoperative ACC patients.

Flurpiridaz F 18: First Approval.

Flurpiridaz F 18 (FLYRCADO™) is an intravenous (IV) radioactive diagnostic drug being developed by GE Healthcare and Lantheus Medical Imaging for use in positron emission tomography (PET) myocardial perfusion imaging (MPI) to detect coronary artery disease (CAD). In September 2024, flurpiridaz F 18 was approved in the USA for PET MPI under rest or stress (pharmacologic or exercise) in adult patients with known or suspected CAD to evaluate for myocardial ischemia and infarction. This article summarizes the milestones in the development of flurpiridaz F 18 leading to this first approval for use in PET MPI in adult patients to evaluate for myocardial ischemia and infarction.

The Pediatric Hip Physical Exam.

Purpose Of Review: Atraumatic hip pain in children is one of the most common orthopaedic complaints in this population. This review details the important elements of the pediatric hip physical exam and provides an overview of pertinent clinical exam findings in specific diagnoses of common pediatric hip pathology.

Recent Findings: A thorough physical exam is critical for the diagnosis of pediatric hip pathology, as many conditions have exam findings that are very commonly associated with the pathology, if not pathognomonic for the disorder.