Increased use of damage control laparotomy for emergency small bowel or colon surgery: does it affect patient outcomes?

Purpose: Evidence to guide the application of damage control laparotomy (DCL) in emergency surgery patients is limited. We assessed whether DCL use for emergent small bowel or colon surgery increased over time and its impact on outcomes. We hypothesized that DCL would be utilized more often in patients with significant comorbidities or septic shock with improved outcomes.

Pharmacist accessibility for non-native Japanese speakers: A cross-sectional study in Japan.

Background: Pharmacists, being one of the more readily accessible primary health care professionals, must ensure accessibility. With growing internationalization, those in Japanese community pharmacies increasingly interact with non-Japanese speakers. This study aimed to understand how Japanese pharmacies can fulfill accessibility needs by accounting for patients' native language and culture.

Phenotypes of Pelvic Organ Prolapse.

Importance: The Pelvic Organ Prolapse Quantification (POP-Q) stages do not correlate with symptoms or characterize important prolapse subtypes.

Objectives: We hypothesize that clinically meaningful prolapse "phenotypes" utilizing POP-Q measurements can be defined. The primary aim was to define the phenotypes and their frequency.

Effectiveness for remission maintenance rate and safety of different rituximab regimens for treating anti-neutrophil cytoplasmic antibody-associated vasculitis in Japan: a J-CANVAS study.

Rituximab (RTX) has been reported to effectively maintain remission in anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV). In this multicenter study involving 57 patients who achieved remission after 24 weeks, we evaluated the effectiveness of RTX in maintaining remission in patients with AAV. Patients were divided into three groups based on RTX administration: continuous, induction phase-only, and maintenance phase-only groups.

Growing problem: frailty in midlife adult trauma patients in the USA.

Background: Unintentional falls are the greatest cause of injury-related hospitalisation in adult patients. Frailty is an important contributor to fall risk and poor outcomes in both midlife and older adult trauma patients. Despite this, the incidence of frailty remains understudied among midlife adults, and the CDC fall screening guidelines are limited to older adults.

CXCL12 ameliorates neutrophilia and disease severity in SARS-CoV-2 infection.

Neutrophils, particularly low-density neutrophils (LDNs), are believed to contribute to acute COVID-19 severity. Here, we showed that neutrophilia can be detected acutely and even months after SARS-CoV-2 infection in patients and mice, while neutrophil depletion reduced disease severity in mice. A key factor in neutrophilia and severe disease in infected mice was traced to the chemokine CXCL12 secreted by bone marrow cells and unexpectedly, endothelial cells.

GREGoR: Accelerating Genomics for Rare Diseases.

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis.

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Background: Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is often not specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked diagnostic variants.

Methods: Using dedicated pipelines to address the technical challenges posed by the mtDNA - circular genome, variant heteroplasmy, and nuclear misalignment - single nucleotide variants, small indels, and large mtDNA deletions were called from exome and genome sequencing data, in addition to RNA-sequencing when available.

Genome sequencing reveals the impact of pseudoexons in rare genetic disease.

Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging sequencing technologies are now being deployed in the clinical setting to address the remaining diagnostic gap.

Methods: We tested whether short-read genome sequencing could increase diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive clinical genetic testing.

Building a growing genomic repository for maternal and fetal health through the PING Consortium.

Background: Prenatally transmitted viruses can cause severe damage to the developing brain. There is unexplained variability in prenatal brain injury and postnatal neurodevelopmental outcomes, suggesting disease modifiers. Of note, prenatal Zika infection can cause a spectrum of neurodevelopmental disorders, including congenital Zika syndrome.

Frailty is associated with poor outcomes in midlife trauma patients.

Background: The impact of frailty on outcomes in midlife trauma patients (50-64 ​y) remains understudied. We evaluated the impact of frailty on midlife trauma patients' outcomes.

Methods: This is a retrospective cohort study using TQIP 2021 data.

Implementing Cancer Registry Data With the PCORnet Common Data Model: The Greater Plains Collaborative Experience.

Purpose: Electronic health records (EHRs) comprise a rich source of real-world data for cancer studies, but they often lack critical structured data elements such as diagnosis date and disease stage. Fortunately, such concepts are available from hospital cancer registries. We describe experiences from integrating cancer registry data with EHR and billing data in an interoperable data model across a multisite clinical research network.

Initial experience in implementing quantitative DCE-MRI to predict breast cancer therapy response in a multi-center and multi-vendor platform setting.

Quantitative dynamic contrast-enhanced (DCE) MRI as a promising method for the prediction of breast cancer response to neoadjuvant chemotherapy (NAC) has been demonstrated mostly in single-center and single-vendor platform studies. This preliminary study reports the initial experience in implementing quantitative breast DCE-MRI in multi-center (MC) and multi-vendor platform (MP) settings to predict NAC response. MRI data, including B mapping, variable flip angle (VFA) measurements of native tissue R (R), and DCE-MRI, were acquired during NAC at three sites using 3T systems with Siemens, Philips, and GE platforms, respectively.

Estimation of prevalence of autoimmune diseases in the United States using electronic health record data.

BACKGROUNDPrevious epidemiologic studies of autoimmune diseases in the US have included a limited number of diseases or used metaanalyses that rely on different data collection methods and analyses for each disease.METHODSTo estimate the prevalence of autoimmune diseases in the US, we used electronic health record data from 6 large medical systems in the US. We developed a software program using common methodology to compute the estimated prevalence of autoimmune diseases alone and in aggregate that can be readily used by other investigators to replicate or modify the analysis over time.

Effect of zonisamide on sleep and rapid eye movement sleep behavioral disorders in patients with Parkinson's disease: A randomized control trial.

Introduction: Zonisamide is a medication developed in Japan that is effective for motor symptoms and wearing off in Parkinson's disease (PD). Zonisamide has properties that may improve sleep disorders. The aim of this study is to verify the safety and efficacy of zonisamide for sleep disorders and rapid eye movement (REM) sleep behavioral disorders (RBD) using a mobile two-channel electroencephalography /electrooculography recording system in patients with PD.

HIV Knowledge and Sexual Behaviors in Perinatally Infected Ugandan Youth: A Cross-Sectional Survey.

Our objective was to assess human immunodeficiency virus (HIV) knowledge and sexual behaviors in 294 perinatally HIV-infected youth aged 18 to 25 years from a psychosocial support group in Kampala using a self-administered survey. Seventy-nine percent reported an undetectable viral load, 9.5% detectable, and 12% did not know.

AptamerRunner: An accessible aptamer structure prediction and clustering algorithm for visualization of selected aptamers.

Aptamers are short single-stranded DNA or RNA molecules with high affinity and specificity for targets and are generated using the iterative systematic evolution of ligands by exponential enrichment (SELEX) process. Next-generation sequencing (NGS) revolutionized aptamer selections by allowing a more comprehensive analysis of SELEX-enriched aptamers as compared to Sanger sequencing. The current challenge with aptamer NGS datasets is identifying a diverse cohort of candidate aptamers with the highest likelihood of successful experimental validation.

The Effect of Ambient Artificial Intelligence Notes on Provider Burnout.

Background:  Healthcare provider burnout is a critical issue with significant implications for individual well-being, patient care, and healthcare system efficiency. Addressing burnout is essential for improving both provider well-being and the quality of patient care. Ambient artificial intelligence (AI) offers a novel approach to mitigating burnout by reducing the documentation burden through advanced speech recognition and natural language processing technologies that summarize the patient encounter into a clinical note to be reviewed by clinicians.

Exploratory Randomised Trial of Tranexamic Acid to Decrease Postoperative Delirium in Adults Undergoing Lumbar Fusion: A trial stopped early.

Background: Postoperative delirium may be mediated by perioperative systemic- and neuro-inflammation. By inhibiting the pro-inflammatory actions of plasmin, tranexamic acid (TXA) may decrease postoperative delirium. To explore this hypothesis, we modified an ongoing randomised trial of TXA, adding measures of postoperative delirium, cognitive function, systemic cytokines, and astrocyte activation.

Feasibility and assessment of self-reported dietary recalls among newly diagnosed multiple sclerosis: a quasi-experimental pilot study.

Background: Individuals who are newly diagnosed with clinically isolated syndrome (CIS) or relapsing-remitting multiple sclerosis (RRMS) may choose not to undergo disease-modifying therapies (DMTs) due to concerns about expenses or potential adverse effects. Thus, many individuals will opt for alternative therapies, such as dietary modifications. Among these dietary approaches, the modified Paleolithic elimination diet has shown promise for improving MS-related symptoms; however, restriction of certain food groups can lead to inadequate intake of nutrients.