Diagnosis and treatment of Fabry disease. Expert Opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease.

Fabry disease (FD) belongs to the group of lysosomal storage diseases (LSD), which are characterised by insufficient activity of enzymes responsible for the intra-lysosomal breakdown of various substrates. The result is an uncontrolled accumulation of by-products of cellular metabolism. Lysosomal storage diseases are inherited diseases, transmitted mainly in an autosomal recessive fashion.

Total neoadjuvant therapy involving checkpoint inhibitors in locally advanced MSI/dMMR rectal cancer - a case report.

Background: Typically, the management of locally advanced rectal cancer consists of neoadjuvant chemoradiotherapy, followed by surgery and adjuvant chemotherapy. In addition to neoadjuvant chemoradiotherapy, total neoadjuvant therapy (TNT) involving radiotherapy and combined chemotherapy has been increasingly used and shown to reduce the risk of distant metastasis and improve local control. Patients with microsatellite instability and deficient mismatch repair (MSI/dMMR) tumors represent a specific group that benefits from different approaches if TNT is considered.

Cardiac troponin I release after transcatheter closure of atrial septal defects is associated with supraventricular arrhythmias on early follow-up.

Introduction: Atrial septal defects (ASD) are prevalent congenital heart anomalies found in the adult population. Percutaneous ASD closure has become a routine clinical practice. Elevation of postprocedural transient cardiac biomarkers and exacerbation of supraventricular arrhythmias have been reported in the subject literature.