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Lancet 2021 Apr 9. Epub 2021 Apr 9.

Institute of Neurogenetics and Department of Neurology, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.

Parkinson's disease is a recognisable clinical syndrome with a range of causes and clinical presentations. Parkinson's disease represents a fast-growing neurodegenerative condition; the rising prevalence worldwide resembles the many characteristics typically observed during a pandemic, except for an infectious cause. In most populations, 3-5% of Parkinson's disease is explained by genetic causes linked to known Parkinson's disease genes, thus representing monogenic Parkinson's disease, whereas 90 genetic risk variants collectively explain 16-36% of the heritable risk of non-monogenic Parkinson's disease. Read More

JMIR Mhealth Uhealth 2021 Apr 13;9(4):e24271. Epub 2021 Apr 13.

Cardiovascular Prevention and Digital Cardiology Lab, Third Cardiology Department, Aristotle University of Thessaloniki, Thessaloniki, Greece.

Background: Heart failure (HF) remains a major public health challenge, while HF self-care is particularly challenging. Mobile health (mHealth)-based interventions taking advantage of smartphone technology have shown particular promise in increasing the quality of self-care among these patients, and in turn improving the outcomes of their disease.

Objective: The objective of this study was to co-develop with physicians, patients with HF, and their caregivers a patient-oriented mHealth app, perform usability assessment, and investigate its effect on the quality of life of patients with HF and rate of hospitalizations in a pilot study. Read More

Orphanet J Rare Dis 2021 Apr 12;16(1):170. Epub 2021 Apr 12.

Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.

Background: The Treatable ID App was created in 2012 as digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with global developmental delay and intellectual disability (collectively 'treatable IDs'). Our aim is to update the 2012 review on treatable IDs and App to capture the advances made in the identification of new IMDs along with increased pathophysiological insights catalyzing therapeutic development and implementation.

Methods: Two independent reviewers queried PubMed, OMIM and Orphanet databases to reassess all previously included disorders and therapies and to identify all reports on Treatable IDs published between 2012 and 2021. Read More

J Nurs Scholarsh 2021 Apr 12. Epub 2021 Apr 12.

Lambda Beta-at-large, Associate Professor, School of Nursing, National Defense Medical Center, Taipei, Taiwan.

Purpose: Secondary prevention of coronary artery disease, self-management behavior, and blood pressure control are important to cardiovascular event prevention and promotion of quality of life (QOL), but they are underutilized. The purpose of this study was to investigate the effects of a self-efficacy theory-based health information technology intervention implemented through blood control and patient self-management.

Design: A clinical randomized waitlist-controlled trial. Read More

JAMA Intern Med 2021 Apr 12. Epub 2021 Apr 12.

Centre for Health, Exercise and Sports Medicine, Department of Physiotherapy, School of Health Sciences, The University of Melbourne, Parkville, Victoria, Australia.

Importance: Exercise therapies are advocated in osteoarthritis (OA) clinical guidelines. However, challenges to accessing exercise may be limiting widespread uptake.

Objective: To evaluate the effects of a self-directed web-based strengthening exercise and physical activity program supported by automated behavior-change text messages on knee pain and function for people with knee OA. Read More