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
View Post 5 min This content is machine translated Rare diseases Tyrosinemia type I For the prognosis of this autosomal recessive inherited disease, a diagnosis made in the neonatal period and the subsequent start of treatment are crucial – particularly with regard to the…
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 3 min This content is machine translated Rare diseases Brugada syndrome Brugada syndrome is an ion channel disorder in which there is an electrical disturbance of heart function without recognizable structural heart disease. This genetic heart rhythm disorder is associated with…
View Post 4 min This content is machine translated Rare diseases Not all porphyria is the same This generic term covers molecular genetically extremely heterogeneous and predominantly hereditary metabolic diseases of heme biosynthesis, which are diagnosed and differentiated by specific biochemical patterns of porphyrins and porphyrin precursors…
View Post 8 min This content is machine translated Hematology From anemia to blood cancer – the latest findings at a glance Hematology covers a broad spectrum of indications with very heterogeneous disease patterns. Accordingly, intensive research is being carried out to provide patients with effective treatment. Rarer diseases are examined just…
View Post 5 min This content is machine translated Case reports: Pityriasis rubra pilaris (PRP) Supposedly therapy-resistant PRP responded to biologic treatment The treatment of pityriasis rubra pilaris can be a challenge. The therapeutic arsenal includes topical corticosteroids, phototherapy or classic systemic therapies such as retinoids or immunosuppressants. Recent case reports and…
View Post 4 min This content is machine translated Rare diseases Niemann-Pick disease Lysosomal storage diseases are a heterogeneous group of genetic disorders that originate from dysfunction of lysosomal metabolic processes. Niemann-Pick disease is nowadays also referred to as ASMD (“Acid Sphingomeyelinase Deficiency”).…
