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…
View Post 12 min This content is machine translated Genetics of pulmonary arterial hypertension. Basics, diagnostics and a new molecular therapeutic approach Pulmonary hypertension (PH) affects approximately 1% of the world’s population. It is associated with a poor prognosis for patients. Various causes condition right ventricular afterload increase, which can lead to… CME-Test
View Post 4 min This content is machine translated Epidermolysis bullosa Wound chronicity and tumorigenesis – relevance of T cell-mediated mechanisms. Bullous autoimmune dermatoses result from an autoantibody-driven immune response against structural proteins of the skin. Chronic wounds in the setting of recessively inherited dystrophic epidermolysis bullosa (RDEB) are highly susceptible…
View Post 3 min This content is machine translated Rare diseases Current diagnostic criteria for neurofibromatosis type 1 – an update. Also known as “von Recklinghausen disease,” neurofibromatosis type 1 is a rare genetic multi-organ disease. A common feature of neurofibromatosis type 1 that can be diagnosed early in its course…
View Post 4 min This content is machine translated Breast Cancer Improving treatment management: genetics in focus The genetics of breast cancer has become a fundamental aspect of treatment management. It influences screening, follow-up, prophylactic and therapeutic recommendations for women who carry a germinal breast cancer susceptibility…
View Post 3 min This content is machine translated Neuropediatrics Epileptic encephalopathy due to impaired GABA neurotransmission? Scientists recently demonstrated that rare inherited mismatches in SLC32A1, a gene encoding the vesicular gamma-aminobutyric acid transporter, can cause genetic epilepsies with febrile convulsions. Now the question was whether these…
View Post 6 min This content is machine translated Retinal dystrophy due to RPE65 mutation Gene therapy drug improves vision There are a variety of different mutations that can underlie hereditary retinal dystrophy. Thanks to the development of modern molecular genetic testing methods, the genetic cause can nowadays be identified…
