News
Li-Fraumeni Syndrome – Indication for Testing and Recommended Surveillance
A germline mutation of the TP53 gene, which causes Li-Fraumeni syndrome, results in a congenital predisposition to the occurrence of malignant tumors, such as pediatric malignancies, breast cancer, bone sarcomas, and others. We bring a summary of indications for testing the pathogenic variant of the TP53 gene according to the recommendations of the National Comprehensive Cancer Network (NCCN) and the surveillance program for carriers of this variant according to the consensus of the current recommendations of the European, American, Japanese, and...
Water Microjet as a Gentler Method of Debridement
Debridement is an integral part of chronic wound treatment. Currently, the most common method is…
Dravet Syndrome – Get to Know It
Dravet syndrome is a severe myoclonic epilepsy occurring in early childhood. It is classified as a…
When and why to consider the diagnosis of myasthenia gravis in neurological practice, and what treatment options do we currently have?
Myasthenia gravis (MG) is a clinically heterogeneous disease characterized by fluctuating muscle…
Sjögren's Syndrome as a Cause of Dry Eye Syndrome
Primary Sjögren's syndrome represents a complex autoimmune disease primarily affecting glands with…
Infographic and Commentary from Practice: Reasons and Pathways for Patients to Biological Treatment of Asthma
For asthma patients with the most severe forms of the disease to access targeted biological…
Subcutaneous pdC1-INH in Patients with Hereditary Angioedema in Real-World Practice
Italian authors published a series of cases of patients with hereditary angioedema caused by C1 inhibitor...
Efficacy and Safety of an Activated FXII Inhibitor in Preventing HAE Attacks
Hereditary angioedema (HAE) is a rare, potentially life-threatening inherited disorder characterized...
To what extent does the delay between symptom onset and diagnosis of AATD affect patient survival?
The risk of chronic obstructive pulmonary disease (COPD) is increased, among other things, by a deficiency...