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 2 min This content is machine translated Rare skin diseases Clouston syndrome – a hidrotic ectodermal dysplasia. Clouston syndrome is an autosomal dominant inherited disorder characterized by the leading symptoms of hyperkeratosis, nail dystrophy and alopecia. The syndrome is caused by mutations in the GJB6 gene, which…
View Post 2 min This content is machine translated Rare diseases Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome is due to mutations in the VHL gene and is characterized by hemangioblastomas of the brain, spinal cord, and retina of the eye. In addition, affected individuals…
View Post 5 min This content is machine translated Multidisciplinary cancer research Prevention, early detection and effective therapy in the focus of oncology The ESMO Congress is the largest European cross-indication cancer congress and this year again presented the latest advances in the therapy of malignant diseases. The central mission is to improve…
View Post 2 min This content is machine translated Paroxysmal Nocturnal Hemoglobinuria Relief for patients due to longer infusion intervals Chronic destruction of red blood cells is characteristic of paroxysmal nocturnal hemoglobinuria. Mutations in the PIG-A gene lead to a GPI-AP deficit that results in uncontrolled complement activation. C5 complement…
View Post 10 min This content is machine translated Myeloproliferative neoplasms Polycythemia vera: pathogenesis, clinical, diagnostic and therapeutic implications. Hematopoietic stem cell myeloproliferative neoplasia is predominantly caused by somatic mutations of the JAK2 gene and resulting clonal autonomous hematopoiesis. The risk of myelofibrosis or leukemic transformation are prognostic.
