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Genetics

123 posts
  • 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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  • 3 min
  • This content is machine translated Non-small cell lung cancer

Management of locally advanced NSCLC – where are we heading?

Lung cancer is the second most common and deadliest type of cancer worldwide. Clinically, non-small cell lung cancer (NSCLC) is the most common pathologic form of lung cancer; approximately one-third…
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  • 5 min
  • This content is machine translated Rare diseases

Fanconi-Bickel syndrome

Fanconi-Bickel syndrome (FBS) occurs due to variants in the SLC2A2 gene. The diagnosis of a rare genetic disease can take up to 5-6 years, even longer in low and middle…
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  • 3 min
  • This content is machine translated Medical oncology

Mastering challenges, shaping innovations

Interdisciplinary networking and personal exchange of experience are essential for international cooperation. Around 5500 participants took part in the DGHO in Basel. The largest congress for the specialist field in…
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    Rare malignancy from a dermatological perspective

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