Publications by authors named "Maria Wetscherek"
Article Synopsis
- Birt-Hogg-Dubé syndrome (BHD) is a genetic condition characterized by skin tumors, lung cysts, and increased risk of kidney cancer, caused by mutations in the FLCN gene.
- Recent expert consensus has led to updated guidelines on diagnosing and managing BHD, emphasizing the use of genetic testing and a multidisciplinary approach for patient care.
- Ongoing monitoring for kidney cancer is essential for affected individuals, and more research is needed on additional tumor surveillance and treatment options.
Objectives: To assess coronary artery calcification (CAC) on non-contrast non-ECG-gated CT thorax (NC-NECG-CTT) and to evaluate its correlation with short-term risk of cardiovascular disease (CVD) events and death.
Methods: Single-institution retrospective study including all patients 40-70 years old who underwent NC-NECG-CTT over a period of 6 months. Individuals with known CVD were excluded.
Tuberculosis remains a major global health issue affecting all countries and age groups. Radiology plays a crucial role in the diagnosis and management of pulmonary tuberculosis (PTB). This review aims to improve understanding and diagnostic value of imaging in PTB.
View Article and Find Full Text PDFFamilial spontaneous pneumothorax (FSP) accounts for 10% of primary spontaneous pneumothoraces. Appropriate investigation of FSP enables early diagnosis of serious monogenic diseases and the practice of precision medicine. Here, we show that a pneumothorax genetics multidisciplinary team (MDT) can efficiently diagnose a range of syndromic causes of FSP.
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