Physiology and Pathophysiology of Marathon Running: A narrative Review.

Background: Marathon training and running have many beneficial effects on human health and physical fitness; however, they also pose risks. To date, no comprehensive review regarding both the benefits and risks of marathon running on different organ systems has been published.

Main Body: The aim of this review was to provide a comprehensive review of the benefits and risks of marathon training and racing on different organ systems.

A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment?

Background & Aim: Twenty-four-hour urinary copper excretion (24 h-UCE) is the standard diagnostic tool for dose adjustments in maintenance therapy in Wilson disease (WD) patients. Guidelines lack data if both variants of 24 h-UCE measurement (with or without 48 h of treatment interruption) are equally interpretable.

Methods: Eighty-four patients with a confirmed diagnosis of WD treated with chelators (50% of patients with D-Penicillamine and 50% with trientine) and with pairwise 24-h-UCE values on-therapy and off-therapy were included in the analysis.

The association of origin and environmental conditions with performance in professional IRONMAN triathletes.

We have (i) little knowledge about where the fastest professional IRONMAN triathletes originate from and where the fastest races take place and (ii) we have no knowledge of the optimal weather conditions for an IRONMAN triathlon. The aims of the present study were, therefore, (i) to investigate the origin and the fastest IRONMAN race courses for professional triathletes and (ii) to evaluate the best environmental conditions (i.e.

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.

Running trends in Switzerland from 1999 to 2019: An exploratory observational study.

Background: Several single race events (5 km, 10 km, half-marathon, marathon, ultra-marathon) in different countries and different years have been analyzed in multiple studies, representing the rising interest in endurance-based activity and thus physical health. With focus on participation numbers, performance or sex difference, many single study results were obtained. The running trends in a whole country covering a longer period of time and several race distances are missing so far.