Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future.

Proteomics accelerates diagnosis and research of muscular diseases by enabling the robust analysis of proteins relevant for the manifestation of neuromuscular diseases in the following aspects: (i) evaluation of the effect of genetic variants on the corresponding protein, (ii) prediction of the underlying genetic defect based on the proteomic signature of muscle biopsies, (iii) analysis of pathophysiologies underlying different entities of muscular diseases, key for the definition of new intervention concepts, and (iv) patient stratification according to biochemical fingerprints as well as (v) monitoring the success of therapeutic interventions. This review presents-also through exemplary case studies-the various advantages of mass proteomics in the investigation of genetic muscle diseases, discusses technical limitations, and provides an outlook on possible future application concepts. Hence, proteomics is an excellent large-scale analytical tool for the diagnostic workup of (hereditary) muscle diseases and warrants systematic profiling of underlying pathophysiological processes.

Mental Practice, Visualization, and Mental Imagery in Surgery: a Systematic Review.

Physicians face constant pressures to learn and adapt to new knowledge, techniques, and technology. Mental practice-the process of rehearsing a task without the physical action of performing it-is a cognitive tool that is used by many professions to hone abilities and prepare for difficult undertakings. Mental practice can help optimize physician performance but there is minimal research on its application in practice.

Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.

: X-linked dystrophinopathies are a group of neuromuscular diseases caused by pathogenic variants in the gene (MIM *300377). Duchenne muscular dystrophy (DMD; MIM #310200) is the most common inherited muscular dystrophy. : We screened datasets of 403 male, genetically confirmed X-linked dystrophinopathy patients and identified 13 pathogenic variants of the gene that have not been described in the literature thus far.

Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.

Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease affecting the peripheral and central nervous system and is caused by bi-allelic variants in the GAN gene, leading to loss of functional gigaxonin protein. A treatment does not exist, but a first clinical trial using a gene therapy approach has recently been completed. Here, we conducted the first systematic study of GAN patients treated by German-speaking child neurologists.

Influence of occupational stress on breast cancer incidence in the Women's Health Initiative.

Objective: Psychological stress has long been posited as a potential risk factor for breast cancer. We aimed to examine the relationship between occupational stress and the incidence of invasive breast cancer among postmenopausal women from the Women's Health Initiative Observational Study.

Method: Occupational stress was characterized through linkage of Standard Occupational Classification codes for participants' jobs to the Occupational Information Network.