Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.

Background: Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant disease with high clinical variability, influenced by both genotype and the geographic origins of carriers. There is a limited understanding of the Val142Ile and Ser43Asn recognised mutations in Ecuador and Colombia. Therefore, the objective of this study is to describe the neurological and functional characteristics of patients with hATTR associated with the Val142Ile and Ser43Asn mutations, as well as to identify possible differentiating factors between the two mutations.

Using an electronic patient reported outcome measure (ePAQ-MPH) to assess potential harm for long-waiting patients in gynaecology.

Background: During the COVID-19 pandemic, outpatient waits for gynaecology appointments increased by 60% in the UK National Health Service (NHS). The aim of this study was to use the electronic Personal Assessment Questionnaire-Menstrual, Pain and Hormonal (ePAQ-MPH) electronic patient reported outcome measure (ePROM) to assess symptoms, impact and potential harm for patients waiting > 60 weeks for general gynaecology appointments at a teaching hospital.

Methods: 1070 patients waiting > 60 weeks for a new appointment (range 60-72 weeks) were invited to complete ePAQ-MPH online to measure gynaecological symptoms and health-related quality-of-life (HRQoL).

Are We Able to Optimize Outcomes and Predict Complications in Pelvic Floor Surgery With a Better Understanding of Hormonal, Microbial and Other Factors? A Report From the ICI-RS 2024.

Introduction: Pelvic organ prolapse (POP) is a common condition, affecting women worldwide and is known to have a significant impact on Health Related Quality of Life (HRQoL). Although there are various treatment options available, including pelvic floor muscle training and support pessaries, many women opt for or require surgery, with a lifetime risk of needing surgery of 12%-19%. As with any operation, this does not come without its complications and the reoperation rate following POP surgery is up to 36%.

Multimodal neuroimaging biomarkers and subtle cognitive decline in a population-based cohort without dementia.

Background: The relationship between subtle cognitive decline and Alzheimer's disease (AD) pathology as measured by biomarkers in settings outside of specialty memory clinics is not well characterized.

Objective: To investigate how subtle longitudinal cognitive decline relates to neuroimaging biomarkers in individuals drawn from a population-based study in an economically depressed, small-town area in southwestern Pennsylvania, USA.

Methods: A subset of participants without dementia (N = 115, age 76.

Symptoms, Quality of Life, and Executive Function in Children Who Snore.

Introduction: Mild sleep-disordered breathing (mSDB) in children is associated with both neurobehavioral morbidity and reduced quality of life (QOL). However, the association between symptom burden and QOL with executive function is not well understood, and it is not known whether QOL and symptom burden may help identify children with neurocognitive dysfunction.

Objective: To assess associations among executive function, QOL, and symptom burden in children with mSDB.

Utilizing network analysis to identify core items of quality of life for children with autism spectrum disorder.

The purpose of this study was to develop and validate an ultra-short scale called the Quality of Life for Children with Autism Spectrum Disorder 3 (QOLASD-C3) from the full 16-item QOLASD-C scale. We first used network analysis to identify three core items to be retained on the QOLASD-C3 scale. Second, we used Cronbach's alpha and Pearson Product Moment correlations to determine the reliability and validity of the scale.

Telehealth in emergency medicine residency training: A model curriculum.

Emergency physicians are well-positioned to take a leadership role in telehealth, particularly in emerging categories such as triage, direct acute unscheduled care, and virtual observation. However, the growth of telehealth has outpaced curricular development in emergency medicine (EM) residency programs. This manuscript presents a model longitudinal telehealth curriculum, developed by the consensus of education experts, including representatives from the telehealth interest groups from EM's two primary specialty societies: the American College of Emergency Physicians and the Society for Academic Emergency Medicine.

Migratory movements of bats are shaped by barrier effects, sex-biased timing and the adaptive use of winds.

Background: Migratory bats perform seasonal movements between their summer and winter areas. When crossing ecological barriers, like the open sea, they are exposed to an increased mortality risk due to energetically demanding long-distance flights and unexpected inclement weather events. How such barriers affect bat migratory movements is still poorly known.

Battling time restrictions with collective discourse: collaborative quizzes in a condensed human anatomy course.

Background: Undergraduate medical education is currently undergoing a remarkable period of transformation. The exponential growth of medical knowledge, accompanied by societal changes and expectations for the upcoming generation of physicians, is placing immense pressure on academic institutions to reform their curricula, particularly foundational courses such as human anatomy. Consequently, instructors are grappling with the challenge of striking a balance between a new curriculum and maintaining the time-honored benchmarks of medical education.

The experimental hut efficacy of next-generation insecticide-treated nets against pyrethroid-resistant malaria vectors after 12, 24 and 36 months of household use in Benin.

Background: Cluster-randomized controlled trials (cluster-RCTs) have demonstrated variation in the epidemiological efficacy of different next-generation insecticide-treated net (ITN) types, with some providing shorter-lived impact than others. Further studies are needed to assess changes in the insecticidal durability of these ITNs over time to complement cluster-RCT results.

Methods: A series of experimental hut trials were performed to evaluate the bioefficacy of new and field-aged next-generation ITNs (PermaNet 3.

A systematic review on revision total hip arthroplasty employing the direct anterior approach.

Introduction: The increased use of the direct anterior approach (DAA) for primary total hip arthroplasty (THA) has extended to revision THA. This systematic review evaluated studies reporting both the utility and clinical outcomes of revision THA using DAA, focusing on studies comparing revision approaches.

Materials And Methods: A review of the Cochrane Library, EMBASE, and MEDLINE databases identified 577 publications.

Predictors of Post-endoscopic Retrograde Cholangiopancreatography Pancreatitis: A Comprehensive Systematic Review and Meta-analysis.

Background & Aims: Pancreatitis is the most common serious adverse event associated with endoscopic retrograde cholangiopancreatography (ERCP). This meta-analysis aimed to precisely assess the risk factors for post-ERCP pancreatitis (PEP).

Methods: We searched electronic databases for studies that assessed risk factors for PEP after adjusting for ≥3 risk factors, including at least one pre-specified patient-related and one procedure-related risk factor, and reported the data as adjusted odds ratios (ORs) with 95% confidence intervals.

Tumor infiltrating T-cells and loss of expression of SWI/SNF genes in varying stages of clear cell renal cell carcinoma.

Background: Patients with clear cell renal cell carcinoma (ccRCC) metastases face poor prognoses, even with adjuvant therapies. Tumor-infiltrating T-cells and macrophages are critical in targeting tumor cells within the renal microenvironment. Beyond VHL mutations, loss-of-function mutations in SWI/SNF complex genes, including PBRM1, BAP1, ARID1A, SETD2, SMARCA4 (BRG1), and SMARCA2 (BRM), have been implicated in ccRCC progression.

"1-800-Help-Me-With-Open-Science-Stuff": A Qualitative Examination of Open Science Practices in Communication Sciences and Disorders.

Purpose: The purpose of this qualitative study was to examine the perceptions of communication sciences and disorders (CSD) assistant professors in the United States related to barriers and facilitators to engaging in open science practices and identify opportunities for improving open science training and support in the field.

Method: Thirty-five assistant professors (16 from very high research activity [R1] institutions, 19 from institutions with other Carnegie classifications) participated in one 1-hr virtual focus group conducted via Zoom recording technology. The researchers used a conventional content analysis approach to analyze the focus group data and develop categories from the discussions.

Continuous Glucose Monitoring in Comorbid Dementia and Diabetes: The Evidence So Far.

Background: Type 2 diabetes mellitus (T2DM) and dementia are two of the leading chronic diseases in aging and are known to influence each other's disease progression. There is well-established evidence that T2DM increases the risk for cognitive decline and dementia. At the same time, people with cognitive changes or dementia can find it difficult to manage their diabetes, resulting in hyper- or hypoglycemic events which can exacerbate the dementia disease progression further.

Voice hearing in young people with posttraumatic stress disorder (PTSD) following multiple trauma exposure.

PTSD is comorbid with a number of other mental health difficulties and the link between voice hearing and PTSD has been explored in adult samples. To compare the trauma history, symptomatology, and cognitive phenotypes of children and adolescents with a PTSD diagnosis following exposure to multiple traumatic events presenting with voice hearing with those who do not report hearing voices. Participants ( = 120) were aged 8-17 years and had PTSD following exposure to multiple traumas.

The sedative effect of intravenous butorphanol in dogs with intracranial space occupying lesions or indicators of intracranial hypertension.

Objective: To determine whether dogs with magnetic resonance imaging (MRI)-determined intracranial space occupying lesions (MRI-iSOLs) or intracranial hypertension (MRI-ICH) had greater sedation scores and quicker onset of recumbency following premedication with intravenous (IV) butorphanol in comparison with dogs which had normal MRI findings.

Study Design: Prospective, observational study.

Animals: A total of 53 dogs presenting for brain MRI were included.

Factors Influencing Outcomes of Trauma Patients Transferred in Trauma Systems by Air or Ground Ambulance: A Systematic Review.

Objectives: This systematic review aims to determine the effectiveness of ambulance transportation versus helicopter transportation on mortality for trauma patients.

Methods: A systematic review of published and unpublished databases (to August 2023) was performed. Studies, reporting mortality, for people who experienced trauma and were transported to a trauma unit by ambulance or helicopter were eligible.

Enhanced glucose processing in gestational diabetes diagnosis: Effects on health equity and clinical outcomes.

Objectives: Gestational diabetes is diagnosed using an oral glucose tolerance test (OGTT), which has limited accuracy, reproducibility and practicality. We assessed the effect of enhanced pre-analytical glucose processing upon glucose concentrations, gestational diabetes diagnosis, health equity and pregnancy outcomes, and if HbA1c was a suitable alternative.

Methods: We recruited pregnant women with ≥1 risk factor to a prospective observational cohort study of pregnancy hyperglycaemia, endocrine causes, lipids, insulin and autoimmunity (OPHELIA), from nine UK centres.

Assessing technology usage in relation to the quality of life of autistic children.

Objective: The aim of this study was to investigate the frequency and duration of technology use by autistic children, their primary activities when engaging with technology, and the association between technology use and quality of life. We assumed that technology serves as a means of communication with peers, and it is associated with an improved quality of life.

Methods: The study sample consisted of 61 parents of autistic children aged 5-10 years old.

Fat-Free Mass Is Positively Associated With Urine Specific Gravity in Athletes and Active Adults: A Quantitative Review.

Urine specific gravity (USG) is a commonly used assessment method to estimate the prevalence of hypohydration, typically based on a common threshold of ≥ 1.020. Some research has shown that USG can vary based on body size and composition, but the evidence to date is limited.

Factors influencing rates of unsupervised assessment of short-term learning in cognitively unimpaired adults.

Background: In older adults with preclinical Alzheimer's disease (AD), learning curves derived from validated psychological learning paradigms are reduced to an extent greater than impairment, or decline, on neuropsychological memory tests.

Objective: This study aimed to examine how age, sex, education, mood, and general dementia risk, which also increases risk for preclinical AD, could influence learning curves.

Methods: 1050 adults enrolled in the BetterBrains trial completed 10 blocks of ORCA-LLT learning trials over 5 days.