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Genetics

121 posts
  • This content is machine translated Genetics

Revised law on genetic testing entered into force

As of 01.12.2022, the revised law on human genetic testing has come into force. It is intended to prevent abuses and ensure the protection of personality.
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  • 5 min
  • This content is machine translated Advanced stage malignant melanoma

Targeted therapy with BRAF/MEK inhibitors – an update.

Patients with non-resectable metastatic melanoma with BRAFV600 mutation should first be evaluated for eligibility for immunotherapy. In addition to checkpoint inhibition, however, targeted therapy with BRAF-MEK inhibitors is now an…
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  • 4 min
  • This content is machine translated Psoriasis

Tissue-resident memory T cells as “key players”.

Immunological memory plays an important role in the pathogenesis of psoriasis. Increasingly, researchers are focusing on tissue resident memory T-cells (TRM cells). This is because the persistence of TRM cells…
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  • 3 min
  • This content is machine translated Type 1 diabetes

The autoimmune polyglandular syndrome in the focus of attention

Genetic predisposition plays a crucial role as a risk factor in type 1 diabetes and associated autoimmune disorders. In addition, antibody determination plays a key role in the diagnosis and…
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  • 3 min
  • This content is machine translated Test procedure

Breast cancer early detection using biomarkers – where do we stand?

Early detection of breast cancer still offers the best chance of cure. Mammography is the benchmark for screening, but is subject to technical, logistical, and diagnostic limitations. For this reason,…
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  • 3 min
  • This content is machine translated Study report: Online survey

Molecular diagnostics in dermatology

In the age of personalized medicine, molecular diagnostics is also becoming increasingly important in dermatology. In a cross-sectional study published in the JDDG, their use in the areas of oncological,…
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  • 2 min
  • This content is machine translated Chronic nodular prurigo

Pruriginous lesional skin exhibits specific DNA methylation signature

The question of which mechanisms contribute to the chronification of pruritus in chronic nodular prurigo is the subject of current research. It is hoped that new insights will be gained…
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  • 2 min
  • This content is machine translated Blood-based analytics: clinical application

“Liquid biopsy” in malignant melanoma

As a biomarker for monitoring the progression of tumor diseases, the detection of tumor cell DNA in blood using next-generation sequencing (“liquid biopsy”) is becoming increasingly important. This also applies…
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  • 6 min
  • This content is machine translated Von Willebrand syndrome

What is the importance of genetic testing?

As the most common hereditary clotting disorder, Von Willebrand syndrome affects about one in a thousand people. With new diagnostic possibilities and findings in the field of molecular genetics, the question…
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  • 4 min
  • This content is machine translated Pheochromocytomas and paragangliomas

Rare neuroendocrine tumors – individualized patient management is essential

If a catecholamine-secreting tumor is suspected, determination of metanephrines in free plasma is a sensitive diagnostic method. Paroxysmal hypertension is a common symptom. Depending on the laboratory findings, an imaging…
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  • 4 min
  • This content is machine translated Non-small cell lung cancer

Molecular diagnostics under the microscope

To date, molecular testing in non-small cell lung cancer (NSCLC) has been reserved primarily for stage IV patients. However, with the introduction of targeted therapies also in earlier tumor stages,…

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