Insulin sensitivity and insulin secretion in adults with Friedreich's Ataxia: the role of skeletal muscle.

Introduction: Friedreich's Ataxia (FRDA) is a multi-system disorder caused by frataxin deficiency. FRDA-related diabetes mellitus (DM) is common. Frataxin supports skeletal muscle mitochondrial oxidative phosphorylation (OXPHOS) capacity, a mediator of insulin sensitivity.

Frataxin deficiency lowers lean mass and triggers the integrated stress response in skeletal muscle.

Friedreich's ataxia (FRDA) is an inherited disorder caused by reduced levels of frataxin (FXN), which is required for iron-sulfur cluster biogenesis. Neurological and cardiac comorbidities are prominent and have been a major focus of study. Skeletal muscle has received less attention despite indications that FXN loss affects it.

Bone Mineral Density and Current Bone Health Screening Practices in Friedreich's Ataxia.

Introduction: Friedreich's Ataxia (FRDA) is a progressive neurological disorder caused by mutations in both alleles of the gene. Impaired bone health is a complication of other disorders affecting mobility, but there is little information regarding bone health in FRDA.

Methods: Dual energy X-ray absorptiometry (DXA) scan-based assessments of areal bone mineral density (aBMD) in individuals with FRDA were abstracted from four studies at the Children's Hospital of Philadelphia (CHOP).

Development of a Mitochondrial Myopathy-Composite Assessment Tool.

Background: 'Mitochondrial Myopathy' (MM) refers to genetically-confirmed Primary Mitochondrial Disease (PMD) that predominantly impairs skeletal muscle function. Validated outcome measures encompassing core MM domains of muscle weakness, muscle fatigue, imbalance, impaired dexterity, and exercise intolerance do not exist. The goal of this study was to validate clinically-meaningful, quantitative outcome measures specific to MM.

In vivo assessment of OXPHOS capacity using 3 T CrCEST MRI in Friedreich's ataxia.

Background: Friedreich's ataxia (FRDA) is a neurodegenerative disease caused by decreased expression of frataxin, a protein involved in many cellular metabolic processes, including mitochondrial oxidative phosphorylation (OXPHOS). Our objective was to assess skeletal muscle oxidative metabolism in vivo in adults with FRDA as compared to adults without FRDA using chemical exchange saturation transfer (CrCEST) MRI, which measures free creatine (Cr) over time following an in-magnet plantar flexion exercise.

Methods: Participants included adults with FRDA (n = 11) and healthy adults (n = 25).

Coexistence of systemic and localized scleroderma: a systematic literature review and observational cohort study.

Objective: SSc and localized sclerosis (LoS) are considered clinically distinct entities. We describe herein the coexistence of SSc and LoS by both a systematic literature review and an observational cohort study of unselected SSc patients.

Methods: Original studies documenting the coexistence of SSc and LoS were identified in three electronic databases by means of a systematic literature search according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines.

Acrokeratosis Can Be a Warning Sign of an Underlying Malignancy.

Introduction: Some cutaneous manifestations can be the first presentation of an underlying malignancy. These so-called paraneoplastic syndromes can sometimes be very subtle or strongly resemble other benign cutaneous diseases.

Aims: In this report, we want to emphasize the need for further investigation of eczema-like cutaneous presentations which develop at a later age and are recalcitrant to therapy.

Effectiveness of Albendazole for Hookworm Varies Widely by Community and Correlates with Nutritional Factors: A Cross-Sectional Study of School-Age Children in Ghana.

Mass drug administration (MDA) targeting school-age children is recommended by the World Health Organization for the global control of soil-transmitted helminth (STH) infections. Although considered safe and cost-effective to deliver, benzimidazole anthelminthics are variably effective against the three most common STHs, and widespread use has raised concern about the potential for emerging resistance. To identify factors mediating response to albendazole, we conducted a cross-sectional study of hookworm infection in the Kintampo North Municipality of Ghana in 2011.

Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders.

Systemic mitochondrial energy deficiency is implicated in the pathophysiology of many age-related human diseases. Currently available tools to estimate mitochondrial oxidative phosphorylation (OXPHOS) capacity in skeletal muscle in vivo lack high anatomic resolution. Muscle groups vary with respect to their contractile and metabolic properties.

The promise and pitfalls of mass drug administration to control intestinal helminth infections.

Purpose Of Review: Intestinal helminth infections continue to cause significant morbidity in resource-limited settings. Recent efforts at global control have centered on mass drug administration (MDA) of praziquantel and benzimidazole anthelminthics to reduce the prevalence and intensity of schistosomiasis and soil-transmitted nematode infections, respectively. This review summarizes progress and potential challenges associated with MDA.