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 15 min This content is machine translated Current status and future prospects Cell and gene therapies in modern cardiology Cell and gene therapies are considered highly innovative but also challenging approaches in modern cardiology. While early hopes for adult stem cells from bone marrow or skeletal muscle were largely...…
View Post 4 min This content is machine translated Case Report KID syndrome – a rare ectodermal dysplasia Keratitis-ichthyosis-deafness syndrome (KID) is a very rare genodermatosis. The main symptoms include ichthyosiform scaling of the skin, hyperkeratosis of the palms, sensory deafness and keratitis. Typical complications are severe skin...…
View Post 3 min This content is machine translated Rare diseases Wolfram syndrome The term “DIDMOAD” syndrome – an acronym for the characteristic symptoms – serves as an alternative name for this autosomal recessive neurodegenerative disease, which was first described in 1938: Diabetes...…
View Post 4 min This content is machine translated Rare diseases Syringomyelia – multiple symptoms make diagnosis difficult Syringomyelia is a rare disease that develops due to a disturbance of cerebrospinal fluid flow (CSF) and is often due to obstruction of the subarachnoid space of the spinal column.…
View Post 3 min This content is machine translated Non-small cell lung cancer Management of locally advanced NSCLC – where are we heading? Lung cancer is the second most common and deadliest type of cancer worldwide. Clinically, non-small cell lung cancer (NSCLC) is the most common pathologic form of lung cancer; approximately one-third…
View Post 5 min This content is machine translated Rare diseases Fanconi-Bickel syndrome Fanconi-Bickel syndrome (FBS) occurs due to variants in the SLC2A2 gene. The diagnosis of a rare genetic disease can take up to 5-6 years, even longer in low and middle…
View Post 3 min This content is machine translated Medical oncology Mastering challenges, shaping innovations Interdisciplinary networking and personal exchange of experience are essential for international cooperation. Around 5500 participants took part in the DGHO in Basel. The largest congress for the specialist field in…
View Post 5 min This content is machine translated Cystic fibrosis Ageing as a new factor in care Significant advances in drug therapy have considerably increased the life expectancy of patients with cystic fibrosis. With the ageing of this patient group and the emergence of comorbidities in adulthood,…
View Post 9 min This content is machine translated Pleural mesothelioma Development, diagnosis and treatment of the aggressive tumor Malignant pleural mesothelioma is an aggressive tumor originating in the pleura. Patients have a short life expectancy after diagnosis, partly due to the limited treatment options. Exposure to asbestos fibers… CME-Test
View Post 3 min This content is machine translated "Spindle hair" Mutations identified in another keratin gene Monilethrix (“spindle hair”) is a dysplasia of the hair shaft with a resulting hypotrichosis. In the autosomal dominant form of this genodermatosis, causative mutations were recently identified in addition to…
