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…
View Post 15 min This content is machine translated Amyotrophic lateral sclerosis Update on diagnostics and therapy In addition to standard care for all forms of ALS, there has been significant progress, particularly for monogenetic forms of ALS, thanks to the development of specific gene-based treatment methods,… CME-Test
View Post 7 min This content is machine translated Medical oncology A multidisciplinary approach to an innovative future The ESMO Congress is a globally influential oncology platform for clinicians, researchers, patient advocates and healthcare professionals from around the world. Once again this year, the latest ground-breaking data was…
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 6 min This content is machine translated Rare diseases Crigler-Najjar syndrome The syndrome, first described by the two doctors Dr. John Crigler and Dr. Victor Najjar in 1952, is characterized by a congenital disorder in the metabolism of bilirubin. Existing treatment…
View Post 4 min This content is machine translated Heart damage Myocardial regeneration: feasible or wishful thinking? Regeneration of the heart is considered the “holy grail” of cardiology. Despite therapeutic advances with cholesterol-lowering drugs, beta-blockers, antihypertensives and other agents, heart failure caused by the loss or dysfunction…
