A non-synonymous single nucleotide polymorphism in predicts neurological severity in Friedreich ataxia.

Friedreich ataxia (FRDA) is a recessive neurodegenerative disease characterized by progressive ataxia, dyscoordination, and loss of vision. The variable length of the pathogenic GAA triplet repeat expansion in the gene in part explains the interindividual variability in the severity of disease. The GAA repeat expansion leads to epigenetic silencing of therefore, variability in properties of epigenetic effector proteins could also regulate the severity of FRDA.

Burden and predictors of statin use in primary and secondary prevention of atherosclerotic vascular disease in the US: from the National Health and Nutrition Examination Survey 2017-2020.

Aims: To assess the current state of statin use, factors associated with non-use, and estimate the burden of potentially preventable atherosclerotic cardiovascular diseases (ASCVD) events.

Methods And Results: Using nationally representative data from the 2017 to 2020 National Health and Nutrition Examination Survey, statin use was assessed in primary prevention groups: high ASCVD risk ≥ 20%, LDL-cholesterol (LDL-C) ≥ 190 mg/dL, diabetes aged 40-75 years, intermediate ASCVD risk (7.5 to <20%) with ≥1 ASCVD risk enhancer and secondary prevention group: established ASCVD.

Association Between Breast Arterial Calcification on Mammography and Coronary Artery Disease: A Systematic Review and Meta-Analysis.

Breast arterial calcification (BAC), which may be detected during screening mammography, is hypothesized to be a noninvasive imaging marker that may enhance cardiovascular risk assessment. In this systematic review and meta-analysis, we sought to assess the association between BAC and coronary artery disease (CAD) by conducting a meta-analysis. We conducted a literature search of PubMed, Scopus, Cochrane library, ClinicalTrials.

Induced Hypothermia in Patients with Cardiac Arrest and a Non-shockable Rhythm: Meta-analysis and Trial Sequential Analysis.

Background: Controversy surrounds utilization of induced hypothermia (IHT) in comatose cardiac arrest (CA) survivors with a non-shockable rhythm.

Methods: We conducted a meta-analysis and trial sequential analysis (TSA) comparing IHT with no IHT approaches in patients with CA and a non-shockable rhythm. The primary outcome of interest was favorable neurological outcomes (FNO) defined using the Cerebral Performance Category (CPC) score of 1 or 2.

Radial versus femoral access for percutaneous coronary intervention in patients with ST-segment elevation myocardial infarction: Trial sequential analysis.

Background: Randomized controlled trials (RCTs) have yielded conflicting results about the impact of transradial access (TRA) versus transfemoral access (TFA) in patients with ST-segment elevation myocardial infarction (STEMI).

Methods: We performed a trial sequential analysis (TSA) of RCTs comparing TRA and TFA in patients with STEMI. The outcomes of interest were 30-day mortality, major bleeding, major adverse cardiovascular events (MACE), myocardial infarction (MI), stroke, and access site complications.

A case off TTP temporally associated with cocaine use: Implications for treatment of suspected DITMA.

Thrombotic microangiopathies are rare diseases associated with significant morbidity and mortality. The treatment of thrombotic thrombocytopenic purpura (TTP) and drug-induced thrombotic microangiopathy (DITMA) remains a diagnostic dilemma as they present similarly but respond differently to standard treatment with plasma exchange. TTP is a deficiency of a disintegrin and metalloprotease with thrombospondin type 1 motif 13 resulting in von Willebrand factor aggregates.

Cross-sectional analysis of glucose metabolism in Friedreich ataxia.

Objectives: To evaluate the relationship between disease features in Friedreich ataxia and aberrant glucose metabolism.

Methods: Fasting glucose, fasting insulin and random HbA1C were obtained in 158 patients with Friedreich ataxia. Regression analysis evaluated glucose, insulin, and homeostatic model assessment (HOMA) of insulin resistance (IR) and beta-cell function (ß) in relation to age, BMI, sex, and genetic severity.

Longitudinal strain in Friedreich Ataxia: a potential marker for early left ventricular dysfunction.

Background: Friedreich's ataxia (FRDA) is a neurodegenerative disorder resulting from deficiency of frataxin, characterized by cardiac hypertrophy associated with heart failure and sudden cardiac death. However, the relationship between remodeling and novel measures of cardiac function such as strain, and the time-dependent changes in these measures are poorly defined.

Methods And Results: We compared echocardiographic parameters of cardiac size, hypertrophy, and function in 50 FRDA patients with 50 normal controls and quantified the following measures of cardiac remodeling and function: left ventricular (LV) volumes, mass, relative wall thickness (RWT), ejection fraction (EF), and myocardial strain.

Management and therapy for cardiomyopathy in Friedreich's ataxia.

The autosomal-recessive disorder Friedreich's ataxia is characterized by progressive ataxia, often in association with cardiomyopathy. The most frequent cause of death is cardiac dysfunction, reflecting congestive heart failure, ventricular arrhythmias and cardio-embolic stroke. With the discovery of the underlying genetic mutation, a variety of novel therapies are now progressing into clinical trials.

Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.

Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by ataxia, dysarthria, and areflexia. The authors report the progress of a large international noninterventional cohort (n = 410), tracking the natural history of disease progression using the neurologic examination-based Friedreich Ataxia Rating Scale. The authors analyzed the rate of progression with cross-sectional analysis and longitudinal analysis over a 2-year period.

Cross-sectional analysis of electrocardiograms in a large heterogeneous cohort of Friedreich ataxia subjects.

Electrocardiographic (ECG) findings in Friedreich ataxia and their relation to disease characteristics have not been well described. In this retrospective cross-sectional study, the authors reviewed baseline ECGs from 239 children and adults with Friedreich ataxia. ECG abnormalities--assessed in relation to participant age, sex, shorter guanine-adenine-adenine triplet repeat length, age of disease onset, and functional disability score--were found in 90% of subjects, including nonspecific ST-T wave changes (53%), right axis deviation (32%), left ventricular hypertrophy (19%), and right ventricular hypertrophy (13%).

Elevation of serum cardiac troponin I in a cross-sectional cohort of asymptomatic subjects with Friedreich ataxia.

Background: Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by ataxia of all four limbs, dysarthria, areflexia, and cardiomyopathy. At present, baseline values of cardiac troponin I are unknown among Friedreich ataxia subjects.

Methods: In this study, we evaluated baseline plasma cardiac troponin I levels among a cross-sectional cohort of 49 pediatric and adult Friedreich ataxia subjects without active arrhythmia, chest pain or features of acute coronary syndrome at the time of sampling.

FXN methylation predicts expression and clinical outcome in Friedreich ataxia.

Objective: Friedreich ataxia (FA) is the most common ataxia and results from an expanded GAA repeat in the first intron of FXN. This leads to epigenetic modifications and reduced frataxin. We investigated the relationships between genetic, epigenetic, and clinical parameters in a large case-control study of FA.

Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia.

Although Friedreich ataxia (FA) is associated with cardiomyopathy, the severity and evolution of cardiac disease is poorly understood. To identify factors predicting cardiomyopathy in FA, we assessed echocardiograms from a large heterogenous cohort and their relation to disease traits. The most recent echocardiograms from 173 subjects with FA were analyzed in a core laboratory to determine their relation to disease duration, subject age, age of onset, functional disability score, and GAA repeat length.