Goal-Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single-Blind, Randomized Controlled Superiority Trial.

Objective: Rehabilitation is thought to reduce ataxia severity in individuals with hereditary cerebellar ataxia (HCA). This multicenter, randomized controlled superiority trial aimed to examine the efficacy of a 30-week goal-directed rehabilitation program compared with 30 weeks of standard care on function, ataxia, health-related quality of life, and balance in individuals with an HCA.

Methods: Individuals with an autosomal dominant or recessive ataxia (aged ≥15 years) were enrolled at 5 sites in Australia.

CLCC1 promotes hepatic neutral lipid flux and nuclear pore complex assembly.

Imbalances in lipid storage and secretion lead to the accumulation of hepatocyte lipid droplets (LDs) (i.e., hepatic steatosis).

Disease Burden and Health-Related Quality of Life (HRQoL) of Chronic Obstructive Pulmonary Disease (COPD) in the US - Evidence from the Medical Expenditure Panel Survey (MEPS) from 2016-2019.

Purpose: Chronic obstructive pulmonary disease (COPD) is a progressive disease associated with reduced life expectancy, increased morbidity, mortality, and cost. This study characterized the US COPD burden, including socioeconomic and health-related quality of life (HRQoL) outcomes.

Study Design And Methods: In this retrospective, cross-sectional study using nationally representative estimates from Medical Expenditures Survey (MEPS) data (2016-2019), adults (≥18 years) living with and without COPD were identified.

Development and validation of a claims-based algorithm to identify moderate exacerbations in patients with asthma treated in the US.

Introduction: Definitions of moderate asthma exacerbation have been inconsistent, making their economic burden difficult to assess. An algorithm to accurately identify moderate exacerbations from claims data is needed.

Methods: A retrospective cohort study of Reliant Medical Group patients aged ≥18 years, with ≥1 prescription claim for inhaled corticosteroid/long-acting β-agonist, and ≥1 medical claim with a diagnosis code for asthma was conducted.

Dose-response effect of prenatal alcohol exposure on perinatal outcomes.

Background: A better understanding of the effects of lower levels of prenatal alcohol exposure (PAE), as a common exposure, is needed. The goal of this study was to examine the effects of mild-moderate PAE and episodic binge drinking on perinatal outcomes.

Methods: The data were obtained from three prospective cohorts with a combined sample of 281 participants: 125 with PAE and 156 without PAE.

Frequency of Cardiac Valvulopathies in Patients With Marfan Syndrome: A Systematic Review and Meta-Analysis.

Marfan syndrome (MFS) is a progressive connective tissue disease with a broad range of clinical manifestations. We sought to establish the spectrum of structural valvular abnormalities as cardiovascular involvement has been identified as the most life-threatening aspect of the syndrome. This was a systematic review with a meta-analysis of studies indexed in Medline from the inception of the database to November 7, 2022.

Independent and Combined Effects of Prenatal Alcohol Exposure and Prenatal Stress on Fetal HPA Axis Development.

Prenatal alcohol exposure (PAE) and prenatal stress (PS) are highly prevalent conditions known to affect fetal programming of the hypothalamic-pituitary-adrenal (HPA) axis. The objectives of this study were to assess the effect of light PAE, PS, and PAE-PS interaction on fetal HPA axis activity assessed via placental and umbilical cord blood biomarkers. Participants of the ENRICH-2 cohort were recruited during the second trimester and classified into the PAE and unexposed control groups.

Potentially modifiable risk and protective factors affecting mental and emotional wellness in pregnancy.

Introduction: Impaired mental and emotional wellness often co-occurs with prenatal substance use, and both affect infant socio-emotional, cognitive, language, motor, and adaptive behavioral outcomes. Guided by the modified biopsychosocial framework, this study examined the role of common substance exposures during pregnancy (i.e.

Modified Recurrence Quantification Analysis for Objective Assessment of Cerebellar Ataxia.

Cerebellar Ataxia (CA) is a neurological condition that affects coordination, balance and speech. Assessing its severity is important for developing effective treatment and rehabilitation plans. Traditional assessment methods involve a clinician instructing a person with ataxia to perform tests and assigning a severity score based on their performance.

National and Local Direct Medical Cost Burden of COPD in the United States From 2016 to 2019 and Projections Through 2029.

Background: Despite the significant burden posed by COPD to health care systems, there is a lack of up-to-date information quantifying the general COPD burden, costs, and long-term projections to various stakeholders in the United States.

Research Question: What are the updated state-specific and nationwide estimates of the COPD disease burden and direct costs in 2019, along with projections of COPD-attributable medical costs through 2029?

Study Design And Methods: A cross-sectional, retrospective study design using the 2016 to 2019 Medical Expenditure Panel Survey, 2019 American Community Survey, and 2019 Behavioral Risk Factor Surveillance System data was applied to generate COPD-attributable expenditure estimates. Cost projections for the years 2020 to 2029 were based on 2017 national population projections reported by the US Census Bureau, and all costs were adjusted to 2019 US dollars.

Non-calcified plaque in asymptomatic patients with zero coronary artery calcium score: A systematic review and meta-analysis.

Background: There is growing interest in understanding the coronary atherosclerotic burden in asymptomatic patients with zero coronary artery calcium score (CACS). In this population, we aimed to investigate the prevalence and severity of non-calcified coronary plaques (NCP) as detected by coronary CT angiography (CCTA), and to analyze the associated clinical predictors.

Methods: This was a systematic review with meta-analysis of studies indexed in PubMed/Medline and Web of Science from inception of the database to March 31st, 2023.

Impact of low-level prenatal alcohol exposure and maternal stress on autonomic regulation.

Background: Prenatal alcohol exposure (PAE) impacts the neurodevelopment of the fetus, including the infant's ability to self-regulate. Heart rate variability (HRV), that is, the beat-to-beat variability in heart rate, is a non-invasive measurement that can indicate autonomic nervous system (ANS) function/dysfunction.

Methods: The study consisted of a subset of our ENRICH-2 cohort: 80 participants (32 PAE and 48 Controls) who had completed three visits during pregnancy.

A systematic review and meta-analysis of the prevalence, incidence, and predictors of atrial fibrillation in cardiac sarcoidosis.

Background: The occurrence of atrial arrhythmias, in particular, atrial fibrillation (AF) in patients with cardiac sarcoidosis (CS) are of growing interest in the field of infiltrative cardiomyopathies. Via a systematic review with meta-analysis, we sought to synthesize data on the prevalence, incidence, and predictors of atrial arrhythmias as well as outcomes in patients with CS.

Methods: PubMed/Medline, Web of Science, and Scopus were systematically queried from inception until April 26th, 2023.

The effect of the COVID-19 pandemic on substance use patterns and physiological dysregulation in pregnant and postpartum women.

Background: The SARS-CoV-2/COVID-19 pandemic has been associated with increased stress levels and higher alcohol use, including in pregnant and postpartum women. In the general population, alcohol use is associated with dysregulation in the autonomic nervous system (ANS), which is indexed by heart rate variability (HRV). The objectives of this study were to: (1) characterize changes in substance use during the SARS-CoV-2/COVID-19 pandemic via a baseline self-report survey followed by mobile ecological momentary assessment (mEMA) of substance use; and (2) examine the associations between momentary substance use and ambulatory HRV measures in pregnant and postpartum women.

Impulsivity and Alcohol Use during Pregnancy and Postpartum: Insights from Novel Methodological Approaches within the Context of the COVID-19 Pandemic.

Impaired emotion regulation and impulsivity have been linked to substance use. This study evaluated the association between emotion regulation difficulties-specifically impulsivity-and substance use within the context of the COVID-19 pandemic among pregnant ( = 49) and postpartum ( = 20) women. Participants from a prospective cohort ENRICH-2 completed a baseline phone survey of COVID-19-related experiences and impulsivity followed by a 14-day (3x/day) mobile ecological momentary assessment (mEMA) of impulsivity and substance use.

Parallel CRISPR-Cas9 screens identify mechanisms of PLIN2 and lipid droplet regulation.

Despite the key roles of perilipin-2 (PLIN2) in governing lipid droplet (LD) metabolism, the mechanisms that regulate PLIN2 levels remain incompletely understood. Here, we leverage a set of genome-edited human PLIN2 reporter cell lines in a series of CRISPR-Cas9 loss-of-function screens, identifying genetic modifiers that influence PLIN2 expression and post-translational stability under different metabolic conditions and in different cell types. These regulators include canonical genes that control lipid metabolism as well as genes involved in ubiquitination, transcription, and mitochondrial function.

Barriers to Adoption of Digital Therapeutics (DTx) into Audiology Clinical Practice: Acknowledging the Challenges, Adapting to the Future.

The continuous advancements in technologies supporting digital health and digital therapeutics (DTx) bring new possibilities to the field of audiology. This study considers a new DTx for tinnitus called Tinnibot and the willingness of a group of Australian university audiology students to consider this new DTx in their future careers as practicing audiologists. A single-group case-series design (pretest/posttest) was used to examine the opinions of 10 university audiology students before and after participating in a 2-hour information workshop on the topics of tinnitus, DTx, cognitive behavioral therapy, and a new digital therapy tool for tinnitus called Tinnibot.

Interrater Reliability of the Scale for the Assessment and Rating of Ataxia, Berg Balance Scale, and Functional Independence Measure Motor Domain in Individuals With Hereditary Cerebellar Ataxia.

Objective: To determine the interrater reliability of the Scale for the Assessment and Rating of Ataxia (SARA), Berg Balance Scale (BBS), and motor domain of the FIM (m-FIM) administered by physiotherapists in individuals with a hereditary cerebellar ataxia (HCA).

Design: Participants were assessed by 1 of 4 physiotherapists. Assessments were video-recorded and the remaining 3 physiotherapists scored the scales for each participant.

Identification of structurally diverse FSP1 inhibitors that sensitize cancer cells to ferroptosis.

Ferroptosis is a regulated form of cell death associated with the iron-dependent accumulation of phospholipid hydroperoxides. Inducing ferroptosis is a promising approach to treat therapy-resistant cancer. Ferroptosis suppressor protein 1 (FSP1) promotes ferroptosis resistance in cancer by generating the antioxidant form of coenzyme Q10 (CoQ).

Effects of medications for opioid use disorder (MOUD) on fetal brain and cranial measurements.

Background: The use and misuse of opioids, as well as opioid use disorder (OUD) have increased remarkably among reproductive-aged and pregnant women. As many as 25% of pregnant women who report non-medical opioid use in the past month also report concurrent alcohol use. While teratogenic effects of alcohol are well established, there are limited studies evaluating fetal intracranial effects associated with medications for OUD (MOUD) and concurrent use of MOUD and alcohol during pregnancy.

Protocol for performing pooled CRISPR-Cas9 loss-of-function screens.

Phenotypic screens involving pooled CRISPR-Cas9 libraries offer a powerful, rapid yet affordable approach to evaluate gene functions on a global scale. Here, we present a protocol for performing pooled CRISPR-Cas9 loss-of-function screens to identify genetic modifiers using either fluorescence-based or cell death phenotypic readouts. We describe steps for designing and amplifying the library and generating and screening cells.

Multiple sclerosis in Indigenous Peoples of the Americas: A systematic review of incidence, prevalence, and outcomes.

Introduction: The incidence, prevalence and outcomes of multiple sclerosis (MS) are unclear in Indigenous Peoples (IP) who are more likely to be underrepresented in research. We completed a systematic review of MS in IP of the Americas.

Methods: A systematic review was conducted using PubMed, Web of Science, and Cochrane databases as well as references of retrieved papers.

Near-Fatal Acute Myocardial Infarction in a Young Patient With Occlusive Coronary Artery Disease.

Acute myocardial infarction (AMI) due to obstructive coronary artery disease in young patients is an unusual event. Its clinical pattern somewhat differs from that of elderly patients, thus placing them at an increased risk of misdiagnosis, as this young population typically does not demonstrate the traditional risk factors associated with cardiovascular disease. We report the case of a 35-year-old man who presented with new-onset chest pain leading to cardiac arrest and was found to have 100% occlusion of the left anterior descending (LAD) coronary artery, which was successfully managed with the placement of a drug-eluting stent.