This content is machine translated Rare diseases Muckle-Wells syndrome This rare autoinflammatory syndrome, caused by a genetic mutation, was first described in 1962 by the English doctors Thomas James Muckle and Michael Vernon Wells. Muckle-Wells syndrome is one of…
View Post 6 min This content is machine translated Hemophilia A and B Gene therapies show promising results The goals of hemophilia therapy are becoming increasingly ambitious. The aim is now to normalize coagulation as far as possible. For adult patients, gene therapy is now one of many…
View Post 4 min This content is machine translated Neuropediatrics Effectively helping seriously ill children with new procedures Caring for young patients regularly presents doctors with special challenges. In addition to the specific manifestations of age-independent neurological diseases in children, the focus is also on malformations and hereditary…
View Post 15 min This content is machine translated T helper 1 cells Differentiation and activation of Th1 cells – a multi-omics approach T cells are an important part of our immune system. T helper (Th) cells support and coordinate central functions of the adaptive immune response and thus contribute significantly to the… CME-Test
View Post 4 min This content is machine translated Darier's disease Innovative analysis method provides new insights into the skin microbiome Links between dermal dysbiosis and skin diseases have been the subject of intensive research for several years. A research team involving the Technical University of Munich recently succeeded in using…
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 15 min This content is machine translated T helper 1 cells Differentiation and activation of Th1 cells – a multi-omics approach T cells are an important part of our immune system. T helper (Th) cells support and coordinate central functions of the adaptive immune response and thus contribute significantly to the… CME-Test
View Post 5 min This content is machine translated Rare Disease Day 2024 “Think of zebras when you hear hooves clattering” This quote goes back to the US-American physician Th. E. Woodward and is considered a metaphor for the diagnosis of rare diseases. International Rare Disease Day traditionally takes place on…
View Post 14 min This content is machine translated Research Protein 2, which contains the LEM domain, is essential for heart development The integrity of the nuclear envelope is essential for the compartmentalization of the nucleus and the cytoplasm. Importantly, mutations in genes coding for the nuclear envelope and related proteins are…
View Post 3 min This content is machine translated Rare diseases Turcot syndrome This genetic disease is characterized by an increased incidence of colorectal adenomas and brain tumours and was first described in 1959 by the Canadian surgeon Jacques Turcot. The tumors are…
View Post 20 min This content is machine translated Lipoprotein(a) Current and future treatment options Twenty percent of the population have elevated Lp(a) concentrations, which are associated with an increased risk of cardiovascular disease. There is currently no FDA or EMA approved pharmacologic therapy to… CME-Test
