copy number alteration in bladder cancer: Integrative analysis in patient-derived xenografts and cancer patients.

Bladder cancer (BlCa) is an extensively heterogeneous disease that leads to great variability in tumor evolution scenarios and lifelong patient surveillance, emphasizing the need for modern, minimally invasive precision medicine. Here, we explored the clinical significance of copy number alterations (CNAs) in BlCa. CNA profiling was performed in 15 patient-derived xenografts (PDXs) and validated in The Cancer Genome Atlas BlCa (TCGA-BLCA;  = 408) and Lindgren et al.

Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency.

Background: Hereditary angioedema (HAE) is a potentially life-threatening disorder characterized by recurrent episodes of subcutaneous or submucosal swelling. HAE with normal C1 inhibitor (HAE-nC1-INH) is an underdiagnosed condition. Although the association with genetic variants has been identified for some families, the genetic causes in many patients with HAE-nC1-INH remain unknown.

Recovery during Successive 120-min Football Games: Results from the 120-min Placebo/Carbohydrate Randomized Controlled Trial.

Purpose: This study aimed to examine the recovery kinetics (i.e., time-dependent changes) of performance-related variables between two 120-min male football games performed 3 d apart with and without carbohydrate supplementation.

Extended Match Time Exacerbates Fatigue and Impacts Physiological Responses in Male Soccer Players.

Purpose: This study evaluated how extended match time (90 + 30 min) affected physiological responses and fatigue in male soccer players.

Methods: Twenty competitive players (mean ± SD: age, 20 ± 1 yr; maximal oxygen uptake, 59 ± 4 mL·min -1 ·kg -1 ) completed an experimental match with their activity pattern and heart rate assessed throughout the game, whereas countermovement jump performance and repeated sprint ability were tested and quadriceps muscle biopsies and venous blood samples were taken at baseline and after 90 and 120 min of match play.

Results: Less high-intensity running (12%) was performed in extra time in association with fewer intense accelerations and decelerations per minute compared with normal time.

Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).

Existing evidence indicates that modifier genes could change the phenotypic outcome of the causal variant and thus explain the expression variability of hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE). To further examine this hypothesis, we investigated the presence or absence of 18 functional variants of genes encoding proteins involved in the metabolism and function of bradykinin, the main mediator of C1-INH-HAE attacks, in relation to three distinct phenotypic traits of patients with C1-INH-HAE, i.e.