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Genetics

120 posts
  • 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…
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  • 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…
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  • 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…
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  • 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…
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  • 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…
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  • 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”).…
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  • 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…
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  • 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…
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  • 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…
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  • 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…
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  • 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…
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