The contributions of genetic interactions to natural trait variation are challenging to estimate experimentally, as current approaches for detecting epistasis are often underpowered. Powerful mapping approaches such as bulk segregant analysis, wherein individuals with extreme phenotypes are pooled for genotyping, obscure epistasis by averaging over genotype combinations. To accurately characterize and quantify epistasis underlying natural trait variation, we have engineered strains of the budding yeast to enable crosses where one parent's chromosome is fixed while the rest of the chromosomes segregate.
View Article and Find Full Text PDFIntroduction: Various pathophysiological contexts can be accompanied by weakness, arthrogenic muscle inhibition, and even disability. In this scenario, peripheral nerve stimulation has been studied not only for pain management but also for the improvement of neuromuscular parameters. For this purpose, the use of Transcutaneous Electrical Nerve Stimulation (TENS) has typically been investigated, but recently, the use of ultrasound-guided percutaneous peripheral nerve stimulation (pPNS) has gained popularity.
View Article and Find Full Text PDFIntroduction: The Exacerbation of Chronic Obstructive Pulmonary Disease (ECOPD), especially if leading to hospitalization, increases the risk of death. Our scoping review aims to identify updated mortality risk factors for both short- and long-term periods.
Areas Covered: A comprehensive search, covering the period from January 2013 to February 2024, was performed to identify eligible studies that consider factors associated with death in hospitalized ECOPD.
Acquired isolated factor VII (FVII) deficiency is a rare but important discovery in patients with plasma cell disorders with significant therapeutic and prognostic implications. The present analysis and review of cases reported in the literature is intended to highlight disease-related characteristics associated with this rare clotting defect, clinical manifestations and outcome, and potential underlying mechanisms, and to provide guidance on how to manage these patients in terms of prophylactic and therapeutic measures. The discovery of acquired FVII deficiency in a patient with multiple myeloma (MM) or monoclonal gammopathy of uncertain significance (MGUS) should prompt an evaluation for AL amyloidosis, particularly for amyloid hepatosplenic involvement, whenever not previously documented.
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