Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.

Governance Considerations for Point-of-Care Ultrasound: a HIMSS-SIIM Enterprise Imaging Community Whitepaper in Collaboration with AIUM.

Point-of-care ultrasound (POCUS) has emerged as a standard of care across a variety of healthcare settings due to its ability to provide critical clinical information and as well as procedural guidance to clinicians directly at the bedside. Implementation of enterprise imaging (EI) strategies is needed such that POCUS images can be appropriately captured, indexed, managed, stored, distributed, viewed, and analyzed. Because of its unique workflow and educational requirements, reliance on traditional order-based workflow solutions may be insufficient.

Non-invasive pressure-volume loop derived temporal elastance, contractility, and efficiency indices for assessing Duchenne muscular dystrophy patients.

Ejection fraction is commonly used to assess Duchenne muscular dystrophy-associated cardiomyopathy (DMDAC), but it may remain normal (wrongly) despite significant myocardial dysfunction in patients. Therefore, better indicators of myocardial dysfunction are needed for longitudinal (with time) assessment and treatment of DMDAC patients. This study evaluates non-invasive LV PV loop-derived elastance, contractility and efficiency in relation to EF for patients developing DMDAC.

Access to Evaluation for Liver Transplantation in the Veterans Health Administration.

Background: As the largest US provider of cirrhosis care, the Veterans Health Administration (VA) is the ideal setting to assess patient-, clinician-, and site-level barriers to transplant evaluation.

Aims: To assess barriers to transplant evaluation referral among Veterans with cirrhosis or hepatocellular carcinoma (HCC).

Methods: Logistic regression assessed facility, patient, clinical, and distance factors associated with transplant referral for Veterans with cirrhosis or HCC, over 1 year.

Supplementary oxygen efficacy for chronic pulmonary disorders and exertion desaturation.

Introduction: Exertion-induced desaturation (EID) is a common complication of numerous pulmonary disorders and often treated with supplementary oxygen during exertion. We performed a systematic review and meta-analysis of randomised clinical trials (RCTs) to evaluate the efficacy of supplementary oxygen for EID in pulmonary disorders.

Material And Methods: Medline and Embase were systematically searched from July 2022 to June 2023 following PRISMA guidelines.

Fostamatinib for Hospitalized Adults With COVID-19 and Hypoxemia: A Randomized Clinical Trial.

Importance: Fostamatinib, a spleen tyrosine kinase inhibitor, has been reported to improve outcomes of COVID-19.

Objective: To evaluate the efficacy and safety of fostamatinib in adults hospitalized with COVID-19 and hypoxemia.

Design, Setting, And Participants: This multicenter, phase 3, placebo-controlled, double-blinded randomized clinical trial was conducted at 41 US sites and 21 international sites between November 17, 2021, and September 27, 2023; the last follow-up visit was December 31, 2023.

The 330 risk loci known for systemic lupus erythematosus (SLE): a review.

An in-depth literature review of up to 2023 reveals 330 risk loci found by genetic association at ≤ 5 × 10, with systemic lupus erythematosus (SLE) in at least one study of 160 pertinent publications. There are 225 loci found in East Asian (EAS), 106 in European (EU), 11 in African-American (AA), 18 Mixed American (MA), and 1 in Egyptian ancestries. Unexpectedly, most of these associations are found to date at ≤ 5 × 10 in a single ancestry.

The Management of Non-Muscle-Invasive Bladder Cancer in a Veteran Patient Population: Issues and Recommendations.

The ability of the Veterans Health Administration System to care for veterans with bladder cancer is influenced by the increased complexity of both veterans and the system's capacity to do so, which is determined by personnel and equipment allocation. Herein, we review the guidelines for bladder cancer management in the context of this population and highlight unique veteran characteristics that impact the delivery of bladder cancer care within the Veterans Health Administration System. There are opportunities for standardization and implementation, which can improve the quality of this care, and we summarize the questions for which coordinated research efforts may provide answers.

The future of hypertension pharmacotherapy: Ongoing and future clinical trials for hypertension.

Hypertension is among the most prevalent diagnoses across the world and increases the risk of many serious health problems, such as stroke, heart disease, and kidney disease. Pharmacological approaches to treat hypertension are often required and reduce blood pressure through mechanisms such as vasodilation, inhibition of the renin-angiotensin-aldosterone pathway, and increased urine output to reduce blood volume, among other mechanisms. Further research is ongoing to find novel pathways and mechanisms to treat hypertension, which we summarize in this review.

Remote Foot Temperature Monitoring Among Veterans: Large Observational Study of Noncompliance and Its Correlates.

Background: In-home remote foot temperature monitoring (RTM) holds promise as a method to reduce foot ulceration in high-risk patients with diabetes. Few studies have evaluated adherence to this method or evaluated the factors associated with noncompliance.

Objective: The aims of this study were to estimate noncompliance in patients who were enrolled in RTM nationwide across Department of Veterans Affairs (VA) and to evaluate characteristics associated with noncompliance.

Telaglenastat as an alternative to cisplatin as a radiosensitizer in the treatment of head and neck squamous cell carcinoma.

The efficacy of radiation treatment (RT) of head and neck squamous cell carcinoma (HNSCC) is limited by radioresistance and the toxicity of FDA approved radiosensitizers. In extension to our previous research where we demonstrated that telaglenastat (CB839) increased efficacy of RT in in vitro and in vivo HNSCC models, here, we examine the radiosensitizing effects of telaglenastat in comparison to cisplatin's, as cisplatin is currently the standard of care for concurrent therapy. Combination of telaglenastat with RT reduced tumor volume in a HNSCC patient derived xenograft mouse model.

The Pharmacogenomics Global Research Network Implementation Working Group: global collaboration to advance pharmacogenetic implementation.

Pharmacogenetics promises to optimize treatment-related outcomes by informing optimal drug selection and dosing based on an individual's genotype in conjunction with other important clinical factors. Despite significant evidence of genetic associations with drug response, pharmacogenetic testing has not been widely implemented into clinical practice. Among the barriers to broad implementation are limited guidance for how to successfully integrate testing into clinical workflows and limited data on outcomes with pharmacogenetic implementation in clinical practice.

Examining the associations between posttraumatic stress disorder symptom clusters across cognitive processing therapy.

Cognitive processing therapy (CPT) is a well-known trauma-focused treatment that aims to generate more adaptive posttrauma cognitions and emotions. Changes in cognitions are theorized to be the mechanism by which CPT leads to improvement in posttraumatic stress disorder (PTSD) symptoms. The present study aimed to explore associations between changes in PTSD symptom clusters during CPT.

Lessons from the Department of Veterans Affairs: A continuum of age-friendly care for older adults.

With almost 90% of Americans expressing a desire to age in place in their home, many health systems and communities are challenged to provide the right resources, at the right time, to support What Matters to older adults. In the Department of Veterans Affairs (VA), approximately 50% of Veterans enrolled in VA health care are aged 65 and older, driving an imperative to provide timely, Age-Friendly care through a broad continuum of services. VA has taken a multifaceted approach to shift Long-Term Services and Supports to promote aging in place through innovation pilots, expansion of Home and Community Based Services (HCBS) and adoption of Age-Friendly Health Systems (AFHS) practices [or "framework"].

Lipid profiling of RON and DEK-dependent signaling in breast cancer guides discovery of gene networks predictive of poor outcomes.

Recurrent and metastatic breast cancer is frequently treatment resistant. A wealth of evidence suggests that reprogrammed lipid metabolism supports cancer recurrence. Overexpression of the RON and DEK oncoproteins in breast cancer is associated with poor outcome.

Proposed Nutrition Competencies for Medical Students and Physician Trainees: A Consensus Statement.

Importance: In 2022, the US House of Representatives passed a bipartisan resolution (House of Representatives Resolution 1118 at the 117th Congress [2021-2022]) calling for meaningful nutrition education for medical trainees. This was prompted by increasing health care spending attributed to the growing prevalence of nutrition-related diseases and the substantial federal funding via Medicare that supports graduate medical education. In March 2023, medical education professional organizations agreed to identify nutrition competencies for medical education.

Profiling Long Noncoding RNA in Psoriatic Skin Using Single-Cell RNA Sequencing.

The expressions of long noncoding RNAs (lncRNAs) and their roles in epidermal differentiation have been previously defined using bulk RNA sequencing. Despite their tissue-specific expression profiles, most lncRNAs are not well-annotated at the single-cell level. In this study, we evaluated the use of single-cell RNA sequencing to profile and characterize lncRNAs using data from 6 patients with psoriasis with paired uninvolved and lesional psoriatic skin.

Comparison of Outcomes After Cochlear Implantation in a Veteran Versus Nonveteran Population.

Objective: To evaluate for equivalence in postoperative changes of speech recognition scores in a veteran patient population undergoing cochlear implantation (CI) compared to matched nonveteran patients.

Study Design: Retrospective chart review.

Setting: Tertiary referral center.

Integration of an electronic hand hygiene auditing system with electronic health records using machine learning to predict hospital-acquired infection in a health care setting.

Background: Hospital-acquired infections (HAIs) increase morbidity, mortality, and health care costs. Effective hand hygiene (HH) is crucial for prevention, but achieving high compliance remains challenge. This study explores using machine learning to integrate an electronic HH auditing system with electronic health records to predict HAIs.