Complex Genetic Framework in Familial Amyotrophic Lateral Sclerosis With a C9ORF72 Mutation: A Case Report.

A significantly diverse clinical presentation of amyotrophic lateral sclerosis (ALS), even in its best-studied familial form, continues to hinder current efforts to develop effective disease-modifying drugs for the cure of this rapidly progressive, fatal neuromuscular disease. We have previously shown that clinical heterogeneity of sporadic ALS (sALS) could be explained, at least in part, by its polygenic nature as well as by the presence of mutated genes linked to non-ALS neurological diseases and genes known to mediate ALS-related pathologies. We hypothesized that a similar genetic framework could also be present in patients with familial ALS (fALS).

Implementation of a Faith Community Nursing Transition of Care Program in the USA: A Propensity Score Matching Analysis.

Faith community nursing (FCN) is a specialty nursing practice that integrates spiritual and religious practices into patient care. This study aimed to quantitatively assess the impact of the standardized FCN transition of care (TOC) program on the rate of hospital readmission and length of stay (LOS) through propensity score matching and difference-in-differences methods. Compared with those in the non-FCN group (n = 409), patients in the FCN group (n = 66) had a reduced likelihood of hospital readmission at 30, 90, and 180 days after discharge (by 8.

N-glycosylation in the SERPIN domain of C1-Esterase Inhibitor in hereditary angioedema.

Hereditary angioedema is an autosomal dominant disorder caused by defects in C1-esterase inhibitor (C1-INH), resulting in poorly controlled activation of the kallikrein-kinin system and bradykinin overproduction. C1-INH is a heavily glycosylated protein in the serine protease inhibitor (SERPIN) family, yet the role of these glycosylation sites remains unclear. To elucidate the functional impact of N-glycosylation in the SERPIN domain of C1-INH, we engineered four sets consisting of 26 variants at or near the N-linked sequon (NXS/T).

Prior nonarthroplasty shoulder surgery and modifiable risk factors negatively affect patient outcomes after shoulder arthroplasty.

Background: Total shoulder arthroplasty frequently is performed in patients with a history of shoulder surgery. The purpose of this study was to evaluate clinical outcomes after primary shoulder arthroplasty in patients with a history of nonarthroplasty shoulder surgery, and whether certain modifiable risk factors (MRFs) were negatively associated with final outcome measures. The secondary purpose was to determine if costs or complications were higher in patients with prior shoulder surgery.

Brachial Plexus Birth Injury: Treatment and Interventions.

Brachial plexus birth injury (BPBI) is a condition affecting newborns and involves damage to the nerve fibers compromising the brachial plexus during birth. Although most newborns recover spontaneously, a large subset require surgery to regain function, and others will have permanent disability despite intervention. Deciding when to pursue surgical intervention remains a challenge for clinicians treating BPBI.

Safety and immunogenicity of ascending doses of influenza A(H7N9) inactivated vaccine with or without MF59®.

Introduction: While it remains impossible to predict the timing of the next influenza pandemic, novel avian influenza A viruses continue to be considered a significant threat.

Methods: A Phase II study was conducted in healthy adults aged 18-64 years to assess the safety and immunogenicity of two intramuscular doses of pre-pandemic 2017 influenza A(H7N9) inactivated vaccine administered 21 days apart. Participants were randomized (n = 105 in each of Arms 1-3) to receive 3.

Evolving trends in novel sleep tracking and sleep testing technology publications between 2020-2022.

Study Objectives: To update sleep medicine providers regarding (1) published research on the uses and performance of novel sleep tracking and testing technologies (2) the use of artificial intelligence to acquire and process sleep data and (3) research trends and gaps regarding the development and/or evaluation of these technologies.

Methods: Medline and Embase electronic databases were searched for studies utilizing screening and diagnostic sleep technologies, published between 2020 and 2022 in journals focusing on human sleep. Studies' quality was determined based on the Study Design criteria of The Oxford Centre for Evidence-Based Medicine Levels of Evidence.

Osteochondral Allograft Transplantation as a Salvage Procedure After Failed Index Cartilage Surgery of the Knee: A Systematic Review.

Background: Osteochondral allograft transplantation (OCA) is well established as a viable chondral restoration procedure for the treatment of symptomatic, focal chondral defects of the knee. The efficacy of secondary OCA in the setting of failed index cartilage repair or restoration is poorly understood.

Purpose: To evaluate radiographic and clinical outcomes, failures, and reoperations after OCA after failed index cartilage repair or restoration of the knee.

Association of remote work with tobacco and alcohol use: a cross-sectional study in Japan.

Background: Remote work allows one to work free from workplace policy, but it may negatively affect health-related behaviors such as tobacco product use and alcohol drinking. Our study aimed to investigate the association of remote work with tobacco dependence and hazardous alcohol use.

Methods: This nationwide Internet-based survey was conducted in Japan in February 2023.

Replacement of a single residue changes the primary specificity of thrombin.

Background: Thrombin prefers substrates carrying Arg at the site of cleavage (P1) because of the presence of D189 in the primary specificity (S1) pocket but can also cleave substrates carrying Phe at P1. The structural basis of this property is unknown.

Objective: Solve the X-ray structure of thrombin bound to a ligand carrying Phe at P1 and investigate the effects of replacing D189.

Scope of Practice Intentions Among Family Medicine Residents for Integrated Care of HIV and Hepatitis C Infection in People With Opioid Use Disorder.

Background And Objectives: Because deaths from opioid overdoses have increased in the United States, family physicians are needed who can provide integrated care for a patient with HIV, hepatitis C, and opioid use disorder. We sought to describe the individual and residency characteristics of graduating family medicine residents who intend to practice such integrated care.

Methods: We used 2017-2021 data from the American Board of Family Medicine Initial Certification Questionnaire.

Perspectives on Conducting Behavioral Intervention With Adolescents Using a Virtual Platform-A Thematic Analysis From the Viewpoint of Study Coordinators.

Background: The COVID-19 pandemic led to widespread adoption of virtual communication platforms. Virtual study visits were implemented in the pilot cluster randomized trial (CRT) stage of Teen Adherence in KidnEy transplant Improving Tracking To Optimize Outcomes (TAKE-IT TOO). The present study aimed to understand study coordinators' perspectives on conducting a behavioral intervention with adolescent kidney transplant recipients using virtual conferencing platforms.

Prognostic significance of serum complement activation, neutrophil extracellular traps and extracellular DNA in newly diagnosed epithelial ovarian cancer.

Purpose: We observed that the tumor microenvironment (TME) in metastatic epithelial ovarian cancer (EOC) and in other solid tumors can reprogram normal neutrophils to acquire a complement-dependent suppressor phenotype characterized by inhibition of stimulated T cell activation. This study aims to evaluate whether serum markers of neutrophil activation and complement at diagnosis of EOC would be associated with clinical outcomes.

Experimental Design: We conducted a two-center prospective study of patients with newly diagnosed EOC (N = 188).

Fournier's Gangrene Severity Index and Charlson Comorbidity Index Predict Mortality, Intensive Care Unit Admission, and Length of Hospital Stay in Patients With Fournier's Gangrene: An Analysis of 264 Consecutive Patients.

Introduction Fournier's gangrene (FG) is a rapidly progressing necrotizing fasciitis. The Fournier's Gangrene Severity Index (FGSI), in conjunction with the Charlson Comorbidity Index (CCI), has been used as a mortality predictor during hospitalization. Patients with diabetes have also been shown to be at an increased risk for the development of FG.

Buprenorphine and postpartum contraception utilization among people with opioid use disorder: a multi-state analysis.

Background: The postpartum period provides an opportunity for birthing people with opioid use disorder (OUD) to consider their future reproductive health goals. However, the relationship between the use of medication for opioid use disorder (MOUD) and contraception utilization is not well understood. We used multistate administrative claims data to compare contraception utilization rates among postpartum people with OUD initiating buprenorphine (BUP) versus no medication (psychosocial services receipt without MOUD (PSY)) in the United States (US).

Single-Nucleotide Polymorphisms in Thrombotic Thrombocytopenic Purpura: A Genetic Predisposition to Immune Thrombotic Thrombocytopenic Purpura.

There are two main classifications for thrombotic thrombocytopenic purpura (TTP): immune and hereditary. The majority of TTP cases are immune in nature and are due to inhibitor autoantibodies against ADAMTS13. Hereditary TTP is caused by biallelic pathogenic variants in the ADAMTS13 gene.

Replacement of a single residue changes the primary specificity of thrombin.

Background: Thrombin prefers substrates carrying Arg at the site of cleavage (P1) because of the presence of D189 in the primary specificity (S1) pocket but can also cleave substrates carrying Phe at P1. The structural basis of this property is unknown.

Objectives: Solve the X-ray structure of thrombin bound to a ligand carrying Phe at P1 and investigate the effects of replacing D189.

Topical Netarsudil in Childhood Glaucoma: A Systematic Review.

Purpose: To evaluate the effectiveness and safety of topical netarsudil 0.02% in managing childhood glaucoma.

Methods: A literature search in the electronic databases of PubMed CENTRAL, Google Scholar, EMBASE, the Register of Controlled Trials, and Ovid MEDLINE from January 2017 to August 2023 using one or a combination of the following terms: "netarsudil," "rhopressa," "Rho-kinase," "pediatric glaucoma," "childhood glaucoma," "intraocular pressure" was conducted.

Survey of Laboratory Stewardship Governance at US Academic Medical Centers.

Background: Efforts to appropriately utilize laboratory tests have been underway for several decades. However, limited information is available regarding the status of laboratory stewardship at academic medical centers. Prior to initiating a laboratory stewardship committee, a study was initiated to gain insights from peer institutions.

Examining the Clinical Significance and Embryologic Development of Two Unique Cases of Renal Anatomy.

Two unique presentations of renal anatomy were observed during routine cadaveric dissection. The first case presented with an ectopic malrotated left kidney supplied by supernumerary renal arteries. This kidney was drained by a circumaortic renal vein and an inferior polar vein.

Synthesis and in vitro evaluation of novel compounds and discovery of a promising iodine-125 radioligand for purinergic P2X7 receptor (P2X7R).

The purinergic P2X ligand-gated ion channel 7 receptor (P2X7R) plays a critical role in various inflammatory processes and other diseases. Fast determination of compounds P2X7R binding potency and discovery of a promise PET radiotracer for imaging P2X7R require a P2X7R suitable radioligand for radioactive competitive binding assay. Herein, we designed and synthesized thirteen new P2X7R ligands and determined the in vitro binding potency.