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”).…
View Post 3 min This content is machine translated Rare diseases Gaucher disease – a sphingolipidosis A young adult patient with abdominal pain was found to have hepatomegaly and splenomegaly associated with thrombocytopenia and anemia. The bone marrow was then punctured and biopsied, followed by determination…
View Post 3 min This content is machine translated Hereditary angioedema New Real-World Data on Long-Term Prophylaxis Hereditary angioedema (HAE) is a rare genetic disorder that causes recurrent swelling of the skin, mucous membranes, or various internal organs at irregular intervals. International guidelines recommend long-term prophylaxis with…
View Post 3 min This content is machine translated PANCREATIC CELLS Exploration map Neurogenin 3 (NEUROG3), the mutation of which can lead to diabetes, is only active for a short time during pancreatic development, which is why its behavior and dynamics, particularly in…
View Post 3 min This content is machine translated Rare diseases The Alagille syndrome This rare genetic disorder is associated with multiple symptoms of multiple organ systems, particularly affecting the liver and heart. The cause is a mutation on chromosome 1 or 20. The…
