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Posts by tag

mutation

11 posts
  • 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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  • 3 min
  • This content is machine translated Rare skin diseases

Darier’s disease – a hereditary keratinization disorder

The disease, also known as dyskeratosis follicularis, is associated with impaired keratinization of the epidermis, hair follicles and fingernails. Histologically, Darier’s disease is characterized by marked dyskeratosis. Therapeutic options are…
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  • 3 min
  • This content is machine translated Malignant melanoma with BRAFV600 mutation

More melanomas in advanced stages – pandemic-related late effects?

Uptake of skin cancer screening plummeted in the corona pandemic. Therefore, early detection and treatment of skin cancer now deserves special attention. In patients with advanced melanoma and a BRAFV600…
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  • 2 min
  • This content is machine translated Impulse Control Disorders

Genetics of Tourette syndrome

Tourette syndrome (TS) is in the realm of impulse control disorders and includes motor and vocal tics that manifest in childhood. The presented study addresses de novo mutations and their…
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  • 3 min
  • This content is machine translated Deformities of the skin

Streaky pigmentary shifts – zebra of dermatology?

The pigment mosaics present clinically in the form of specific patterns, which usually correspond to a cutaneous mosaic prototype. The cause is multiple mutations and genetic aberrations, some of which…
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  • 5 min
  • This content is machine translated Pancreatic adenocarcinoma

The “borderline resectable” tumors as a specific challenge.

At ASCO-GI in San Francisco, one of the topics was pancreatic adenocarcinoma. The so-called “borderline resectable” tumors were of particular interest. It is up for discussion whether primary surgery is…
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  • 6 min
  • This content is machine translated Tyrosine kinase inhibitors and the skin

From common to rare side effects

Epidermal-growth-factor receptors are found in the skin and sebaceous glands, tyrosine kinase (TK) in keratinizing skin, mucous membranes and hair, and are thus also targets of EGFR- and TK-inhibiting oncologics…
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  • 10 min
  • This content is machine translated Treatment of epithelial ovarian cancer.

Slow but steady progress

Epithelial ovarian carcinoma is a heterogeneous group of carcinomas that have different etiology, genetics, and thus biological prognosis. In advanced stages (IIB-IV), the standard therapy remains maximal cytoreductive therapy, weighing…
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  • 3 min
  • This content is machine translated Highlights from the ASCO Congress

New treatment options for melanoma

At the ASCO Congress, updates on immunotherapy and kinase inhibitors in melanoma were among the topics presented. Current research is yielding some promising insights into new treatment methods, for example…
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  • 4 min
  • This content is machine translated Diabetes mellitus

What are the rare forms of diabetes?

The classification criteria for the widespread disease diabetes have changed again and again over the years. Since 2000, immune-mediated type 1 forms have been distinguished from type 2 forms, which…
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  • 4 min
  • This content is machine translated Chronic lymphocytic leukemia

New therapies urgently needed

At the ESMO Congress in Amsterdam, speakers from various countries discussed the latest results and therapy recommendations in the field of chronic lymphocytic leukemia. Overall, chemoimmunotherapy with fludarabine, cyclophosphamide (FC),…
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