This content is machine translated Journal Club Stargardt’s disease: groundbreaking gene therapy study gives hope In Stargardt disease, loss-of-function mutations in the ABCA4 gene lead to macular degeneration and blindness. A team led by researchers from the University of Basel has developed a promising new...…
View Post 9 min This content is machine translated Rare diseases: Marfan syndrome Hereditary connective tissue disease with a vascular component Even though targeted genetic tests are now available, the diagnosis of Marfan syndrome is still mainly based on specific clinical criteria, in particular the revised Ghent classification. The broad phenotypic...…
View Post 5 min This content is machine translated Rare diseases Donnai-Barrow syndrome This very rare syndrome is caused by mutations in the LRP2 gene, which codes for megalin, and is inherited in an autosomal recessive manner. It is characterized by craniofacial features…
View Post 6 min This content is machine translated Birt-Hogg-Dubé syndrome Fibrofolliculomas as indicator lesions The vast majority of patients affected by this rare hereditary tumor syndrome develop numerous fibrofolliculomas in middle age, particularly on the face and upper body. Genetic testing is required to…
View Post 4 min This content is machine translated Rare diseases Cogan syndrome – a clinical challenge The disease was first described in 1945 by the US physician David Glendering Cogan. The physician noticed a clear hearing loss in combination with keratitis. The exact causes are unclear,…
View Post 4 min This content is machine translated Case study Pseudoxanthoma elasticum Pseudoxanthoma elasticum (PXE), also known as Grönblad-Strandberg syndrome, is a rare hereditary disease that primarily affects the skin, eyes and arterial vascular system. Early diagnosis is crucial for the timely…
View Post 5 min This content is machine translated Diabetic neuropathy and retinopathy How risky are SGLT2i and GLP1-RA? Sodium-glucose cotransporter 2 inhibitors (SGLT2i) and glucagon-like peptide 1 receptor agonists (GLP1-RA) play an important role in diabetes therapy. However, their effect on diabetic neuropathy and retinopathy is not clear.…
View Post 27 min This content is machine translated Uveal melanoma Development of a CAR T-cell therapy for uveal melanoma T cells that are endowed with tumor specificity through the expression of a chimeric antigen recept or (CAR) are becoming increasingly important. They are already increasingly being used in adoptive… CME-Test
View Post 27 min This content is machine translated Uveal melanoma Development of a CAR T-cell therapy for uveal melanoma T cells that are endowed with tumor specificity through the expression of a chimeric antigen recept or (CAR) are becoming increasingly important. They are already increasingly being used in adoptive… CME-Test
View Post 3 min This content is machine translated Myasthenia gravis Something is happening in the treatment management of autoimmune diseases Myasthenia gravis (or myasthenia for short) is a rare disease in which the immune system turns against its own body. Autoantibodies disrupt the transmission of impulses at the interface between…
View Post 6 min This content is machine translated Varicella zoster virus Swiss vaccination recommendations for primary and secondary prophylaxis The FOPH and the Federal Commission on Vaccination recommend vaccination against herpes zoster with the adjuvanted subunit vaccine for healthy people aged 65 and over and for patients with immunodeficiency…
