Gut microbiome composition: link between sports performance and protein absorption?

Background: Sufficient protein intake is essential for adequate physical condition and athletic performance. However, numerous factors can influence the absorption of consumed protein, including timing, type of protein intake, and gut microbiota. In the present study, elite male water polo players consumed a plant-based, vegan protein supplement with ( = 10) or without ( = 10) pre- and probiotics daily during the 31-day study period.

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.

We report the clinical findings of 26 individuals from 16 unrelated families carrying variants in the COL2A1 or COL11A1 genes. Using Sanger and next-generation sequencing, 11 different COL2A1 variants (seven novel), were identified in 13 families (19 affected individuals), all diagnosed with Stickler syndrome (STL) type 1. In nine families, the COL2A1 disease-causing variant arose de novo.

Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.

Aims: Amyloidosis is caused by deposition of abnormal protein fibrils, leading to damage of organ function. Hereditary amyloidosis represents a monogenic disease caused by germline mutations in 11 amyloidogenic precursor protein genes. One of the important but non-specific symptoms of amyloidosis is hypertrophic cardiomyopathy.

[Malignant Melanoma - from Classical Histology towards Molecular Genetic Testing].

Background: Malignant melanoma is - in comparison with other skin tumors - a relatively rare malignant neoplasm with highly aggressive biologic behavior and variable prognosis. Recent data in pathology and molecular diagnostics indicate that malignant melanoma is in fact not a single entity but a group of different neoplasms with variable etiopathogenesis, biologic behavior and prognosis. New therapeutic options using targeted treatment blocking MAPK signaling pathway require testing of BRAF gene mutation status.

Prognostic and predictive molecular biological markers in prostate cancer - significance of expression of genes PCA3 and TMPRSS2.

Unlabelled: Prostate specific antigen and digital rectal examination have low specificity for detecting prostate cancer and they poorly predict the presence of aggressive disease. We present recent findings on PCA3 and TMPRSS:ERG fusion and assessed the relationship between PSA, urine PCA3 and TMPRSS2:ERG and corelation with pathological findings. We tested the PCA3 score in two groups.