Publications by authors named "A N Roos"

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.

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: 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.

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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.

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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.

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Introduction: Matching patients to an effective targeted therapy or immunotherapy is a challenge for advanced and metastatic non-small cell lung cancer (NSCLC), especially when relying on assays that test one marker at a time. Unlike traditional single marker tests, comprehensive genomic profiling (CGP) can simultaneously assess NSCLC tumors for hundreds of genomic biomarkers and markers for immunotherapy response, leading to quicker and more precise matches to therapeutics.

Methods: In this study, we performed CGP on 7,606 patients with advanced or metastatic NSCLC using the Illumina TruSight Oncology 500 (TSO 500) CGP assay to show its coverage and utility in detecting known and novel features of NSCLC.

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