Factors affecting fatigue progression in multiple sclerosis patients.

Fatigue is one of the most prevalent and disabling symptoms among patients with MS, but there is limited research investigating the longitudinal determinants of fatigue progression. This study aims to identify the sociodemographic, behavioral and clinical characteristics, and therapeutic regimens that are correlated with worsening fatigue over time in patients diagnosed with MS. This is a retrospective chart review of 483 patients.

The Recent Increase in Invasive Bacterial Infections: A Report From the National COVID Cohort Collaborative.

Background: When coronavirus disease 2019 (COVID-19) mitigation efforts waned, viral respiratory infections (VRIs) surged, potentially increasing the risk of postviral invasive bacterial infections (IBIs). We sought to evaluate the change in epidemiology and relationships between specific VRIs and IBIs [complicated pneumonia, complicated sinusitis and invasive group A streptococcus (iGAS)] over time using the National COVID Cohort Collaborative (N3C) dataset.

Methods: We performed a secondary analysis of all prospectively collected pediatric (<19 years old) and adult encounters at 58 N3C institutions, stratified by era: pre-pandemic (January 1, 2018, to February 28, 2020) versus pandemic (March 1, 2020, to June 1, 2023).

Genome-wide association study of anterior uveitis.

Background/aims: The purpose of this study is to define genetic factors associated with anterior uveitis through genome-wide association study (GWAS).

Methods: In this GWAS meta-analysis, we combined data from the FinnGen, Estonian Biobank and UK Biobank with a total of 12 205 anterior uveitis cases and 917 145 controls. We performed a phenome-wide association study (PheWAS) to investigate associations across phenotypes and traits.

Metabolic Aging as an Increased Risk for Chronic Obstructive Pulmonary Disease.

Background/objectives: Both aging and chronic obstructive pulmonary disease (COPD) are strongly associated with changes in the metabolome; however, it is unknown whether there are common aging/COPD metabolomic signatures and if accelerated aging is associated with COPD.

Methods: Plasma from 5704 subjects from the Genetic Epidemiology of COPD study (COPDGene) and 2449 subjects from Subpopulations and intermediate outcome measures in COPD study (SPIROMICS) were profiled using the Metabolon global metabolomics platform (1013 annotated metabolites). Post-bronchodilator spirometry measures of airflow obstruction (forced expiratory volume at one second (FEV)/forced vital capacity (FVC) < 0.

Impact of dementia and mild cognitive impairment on bone health in older people.

Mild cognitive impairment, dementia and osteoporosis are common diseases of ageing and, with the increasingly ageing global population, are increasing in prevalence. These conditions are closely associated, with shared risk factors, common underlying biological mechanisms and potential direct causal pathways. In this review, the epidemiological and mechanistic links between mild cognitive impairment, dementia and skeletal health are explored.

Investigating Falls Risk Awareness in Hospitals Using the Self-Awareness of Falls Risk Measure (SAFRM): Empirical Research Quantitative.

Aim: The overarching aim of this study was to explore patients' falls risk awareness in hospitals using section A of the validated Self Awareness of Falls Risk Measure (SAFRM).

Design: Descriptive cross-sectional study design.

Setting: Three rural/regional hospitals in the State of Victoria, Australia.

Hearing Loss Health Literacy in Speech-Language Pathologists: Impact of Academic Training and On-the-Job Experience.

Purpose: The purpose of this study was to explore if academic training and/or on-the-job experience predicts general health literacy, hearing loss health literacy, and self confidence levels of speech-language pathologists (SLPs).

Method: Participants included 423 SLPs with differing levels of academic training and on-the-job experience working with children who are deaf or hard of hearing (DHH). General health literacy, hearing loss health literacy, and confidence levels treating children who are DHH were assessed.

Effect of depressive symptoms on health services utilization in the HIV and hepatitis C co-infected population in Canada.

Depression is common among people living with HCV and HIV, which contributes to health services utilization (HSU). It is unknown whether successful HCV treatment affects this. We examined depressive symptoms and HSU in people co-infected with HIV-HCV and their association with sustained virologic response (SVR) during the direct-acting antiviral era.

Proteome profiling of cerebrospinal fluid using machine learning shows a unique protein signature associated with APOE4 genotype.

Proteome changes associated with APOE4 variant carriage that are independent of Alzheimer's disease (AD) pathology and diagnosis are unknown. This study investigated APOE4 proteome changes in people with AD, mild cognitive impairment, and no impairment. Clinical, APOE genotype, and cerebrospinal fluid (CSF) proteome and AD biomarker data was sourced from the Alzheimer's Disease Neuroimaging Initiative (ADNI) database.

International consensus to define outcomes for trials of chemoradiotherapy for anal cancer (CORMAC-2): defining the outcomes from the CORMAC core outcome set.

Variation in outcomes definitions and reporting limit the utility of clinical trial results. The Core Outcome Research Measures in Anal Cancer (CORMAC) project developed a core outcome set (COS) for chemoradiotherapy trials for anal squamous cell carcinoma (ASCC) through an international healthcare professional and patient consensus process. The CORMAC-COS comprises 19 outcomes across 4 domains (disease activity, survival, toxicity, life impact).

Genetic vulnerability and adverse mental health outcomes following mild traumatic brain injury: a meta-analysis of CENTER-TBI and TRACK-TBI cohorts.

Background: Post-traumatic stress disorder (PTSD) and depression are common after mild traumatic brain injury (mTBI), but their biological drivers are uncertain. We therefore explored whether polygenic risk scores (PRS) derived for PTSD and major depressive disorder (MDD) are associated with the development of cognate TBI-related phenotypes.

Methods: Meta-analyses were conducted using data from two multicenter, prospective observational cohort studies of patients with mTBI: the CENTER-TBI study (ClinicalTrials.

Primary Versus Secondary Immune Thrombocytopenia (ITP): A Meeting Report from the 2023 McMaster ITP Summit.

The McMaster Immune Thrombocytopenia (ITP) Summit was an educational seminar from leading experts in immune thrombocytopenia and related disorders geared towards hematologists, internists, immunologists, and clinical and translational scientists. The focus of the Summit was to review the mechanisms, diagnosis and treatment of primary versus secondary ITP. Specific objectives were to describe the unique features of secondary ITP, and to review its mechanisms in the context of autoimmune disease and infection.

Pancreaticoduodenectomy in trauma patients with grade IV-V duodenal or pancreatic injuries: a post hoc analysis of an EAST multicenter trial.

Introduction: The utility of pancreaticoduodenectomy (PD) for high-grade traumatic injuries remains unclear and data surrounding its use are limited. We hypothesized that PD does not result in improved outcomes when compared with non-PD surgical management of grade IV-V pancreaticoduodenal injuries.

Methods: This is a retrospective, multicenter analysis from 35 level 1 trauma centers from January 2010 to December 2020.

Perception of Telemedicine and Remote Learning Following the COVID-19 Pandemic: A Health Education England Survey of London Obstetrics and Gynaecology Trainees.

Purpose: To determine the level of uptake of telemedicine among postgraduate obstetrics and gynaecology (O&G) trainees in London, and how they perceive its impact on their training.

Methods: A mixed-methods survey aimed at exploring trainee perspectives of telemedicine use in clinical practice and its implications for training. Study participants were O&G specialist doctors on the London (UK) training programme.

State-wise variation and inequalities in caesarean delivery rates in India: analysis of the National Family Health Survey-5 (2019-2021) data.

Background: India's caesarean delivery (CD) rate of 21.5% suggests adequate national access to CD but may mask significant disparities. We examined variation in CD rates across states (geography), wealth, and health care sector (public versus private).

Exploring Congruence Between Patient and Clinician Expectations of Benefit in the Non-Surgical Management of Common Musculoskeletal Conditions in Tertiary Care.

Background: Patient and clinician expectations of benefit from recommended management approaches may potentially impact the success of managing musculoskeletal conditions.

Methods: This was a multisite study in an advanced practice musculoskeletal service across Queensland, Australia. Relationships between patient and clinician (advanced physiotherapy practitioner) expectations of benefit, patient characteristics, and clinical outcome recorded 6 months later were explored with regression analysis in 619 patients undergoing non-surgical multidisciplinary care for either knee osteoarthritis (n = 286), low back pain (n = 249) or shoulder impingement syndrome (n = 84).

Restrictive versus Liberal Transfusion in Myocardial Infarction - A Patient-Level Meta-Analysis.

Background: Clinical guidelines have concluded that there are insufficient data to provide recommendations for the hemoglobin threshold for the use of red cell transfusion in patients with acute myocardial infarction (MI) and anemia. After the recent publication of the Myocardial Infarction and Transfusion (MINT) trial, we performed an individual patient-level data meta-analysis to evaluate the effect of restrictive versus liberal blood transfusion strategies.

Methods: We conducted searches in major databases.

StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data.

Pharmacogenomics is central to precision medicine, informing medication safety and efficacy. Pharmacogenomic diplotyping of complex genes requires full-length DNA sequences and detection of structural rearrangements. We introduce StarPhase, a tool that leverages PacBio HiFi sequence data to diplotype 21 CPIC Level A pharmacogenes and provides detailed haplotypes and supporting visualizations for , , and .

An Unusual Presentation of Cutaneous Bullous Lupus.

Drug-induced lupus erythematosus (DILE) is an autoimmune reaction that results in symptoms of polyarthralgia, fever, and cutaneous lesions and other manifestations. Several drugs have been documented to cause this disease, including procainamide, isoniazid, methyldopa, penicillamine, and hydralazine. Systemic lupus erythematosus (SLE) manifestations often occur after the patient has been taking the drug without complications for months to years.

Prospective Study of Dot Phrase Instructions to Improve Quality and Timeliness of Bowel Preparation for Inpatient Colonoscopies.

Background Inpatient bowel preparation is often suboptimal. Few interventions have been effective at improving its success rate. We determined the clinical features associated with suboptimal inpatient bowel preparation and analyzed the ability of an easily implementable set of instructions inserted into the electronic health record to improve the success of bowel preparation.

Genomic Epidemiology of 2023-2024 Oropouche Outbreak in Iquitos, Peru reveals independent origin from a concurrent outbreak in Brazil.

Oropouche virus is an arbovirus endemic to the Americas. Periodic outbreaks have occurred since its description in 1955. In late 2023, an outbreak occurred in Peru, centered in and around Iquitos in the Eastern Peruvian Amazon.

Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder.

Aim: To describe the neurodevelopment and quality of life in SLC13A5 (solute carrier family 13 member 5) citrate transporter disorder (developmental and epileptic encephalopathy 25, DEE25), a rare genetic early infantile epileptic encephalopathy caused by deficiency of a sodium-citrate transporter, characterized by heavy seizure burden in the neonatal period.

Method: We analyzed longitudinal neurodevelopmental outcomes from a prospective natural history study of DEE25, using standardized assessments of Mullen Scales of Early Learning, Peabody Developmental Motor Scales, and Vineland Adaptive Behavior Scales.

Results: There was significant global impairment across the cohort, with variable quality of life and limited genotype-phenotype correlation.

International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA.

Introduction: The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.

Methods: Clinical outcome assessments for the top 10 priority domains identified in the Voice of the Patient Report for Rett syndrome were compiled and available psychometric data were extracted.