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Genetics

137 posts
  • This content is machine translated Blastic plasmacytoid dendritic cell neoplasia

Rare malignancy from a dermatological perspective

Blastic plasmacytoid dendritic cell neoplasia (BPDCN) is an aggressive hematologic malignancy originating from immature plasmacytoid dendritic cell (PDC) precursors. The initial manifestation of BPDCN often consists of cutaneous lesions. In...…
CME-Test
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  • 5 min
  • This content is machine translated The autoimmune architecture of the child's INS

From podocyte pathophysiology to personalized therapy

Idiopathic nephrotic syndrome (INS) is the most common glomerular disease in childhood. For a long time, it was considered a clinically defined, non-specific entity whose treatment was primarily based on...…
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  • 16 min
  • This content is machine translated IBDmatters - Synergy effects for IBD pathways

How combination therapies lead to better treatment results

Inflammatory bowel diseases ( IBD) are complex and multifactorial diseases that require a differentiated and evolving treatment approach. When monotherapies reach their limits, the need for combination strategies grows. The...…
CME-Test
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  • 5 min
  • This content is machine translated Idiopathic cholestasis

Genotype-phenotype correlations in PFIC

The EASL guidelines on the clinical management of hereditary cholestatic liver disease, published in 2024, suggest that genetic testing should be performed as early as possible in the diagnostic process...…
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  • 13 min
  • This content is machine translated Potential biomarkers for diagnostics, prognosis and therapy

Male infertility

Male infertility represents a significant challenge in urological practice and is responsible for around 40-50% of all cases of involuntary childlessness in couples. Despite comprehensive clinical investigations, the exact cause...…
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  • 16 min
  • This content is machine translated Blastic plasmacytoid dendritic cell neoplasia

Rare malignancy from a dermatological perspective

Blastic plasmacytoid dendritic cell neoplasia (BPDCN) is an aggressive hematologic malignancy originating from immature plasmacytoid dendritic cell (PDC) precursors. The initial manifestation of BPDCN often consists of cutaneous lesions. In...…
CME-Test
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  • 4 min
  • This content is machine translated Journal Club

Stargardt’s disease: groundbreaking gene therapy study gives hope

In Stargardt disease, loss-of-function mutations in the ABCA4 gene lead to macular degeneration and blindness. A team led by researchers from the University of Basel has developed a promising new...…
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  • 15 min
  • This content is machine translated Current status and future prospects

Cell and gene therapies in modern cardiology

Cell and gene therapies are considered highly innovative but also challenging approaches in modern cardiology. While early hopes for adult stem cells from bone marrow or skeletal muscle were largely...…
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  • 4 min
  • This content is machine translated Case Report

KID syndrome – a rare ectodermal dysplasia

Keratitis-ichthyosis-deafness syndrome (KID) is a very rare genodermatosis. The main symptoms include ichthyosiform scaling of the skin, hyperkeratosis of the palms, sensory deafness and keratitis. Typical complications are severe skin...…
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  • 3 min
  • This content is machine translated Rare diseases

Wolfram syndrome

The term “DIDMOAD” syndrome – an acronym for the characteristic symptoms – serves as an alternative name for this autosomal recessive neurodegenerative disease, which was first described in 1938: Diabetes...…
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  • 4 min
  • This content is machine translated Rare diseases

Syringomyelia – multiple symptoms make diagnosis difficult

Syringomyelia is a rare disease that develops due to a disturbance of cerebrospinal fluid flow (CSF) and is often due to obstruction of the subarachnoid space of the spinal column.…

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