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Genetics

137 posts
  • This content is machine translated Subtyping as the key to precision medicine

Molecular diversity of the PDAC

Pancreatic ductal adenocarcinoma (PDAC) is one of the most aggressive tumors of all. The five-year survival rate is still in the single digits. In recent years, however, there has been...…
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  • 12 min
  • This content is machine translated HER2-positive breast cancer

ENPP1 as a biomarker for poor prognosis and early detection of brain metastases

Around 15-20% of all breast cancer cases are HER2-positive, which is a subtype with an aggressive course and an increased tendency to metastasize to the brain. A new study now...…
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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 focus...…
CME-Test
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  • 4 min
  • This content is machine translated Case study

Wiedemann-Steiner syndrome in a 2-year-old girl

The patient, who had a phenotype characterized by hypertelorism, thick eyebrows and other features, was found to have a c.517C>T nonsense mutation in the KMT2A gene. This rare heterozygous mutation...…
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  • 6 min
  • This content is machine translated Pediatric multiple sclerosis

Early high efficacy as the key to improving prognosis

Pediatric multiple sclerosis (POMS) is a rare but particularly challenging form of the disease. Children and adolescents with MS often experience more relapses, a greater lesion burden on MRI and...…
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  • 7 min
  • This content is machine translated Management of patients after alloHCST

ERS/EBMT guideline recommendations on pulmonary cGvHD

After an allogeneic stem cell transplant (alloHCST), life-threatening chronic graft-versus-host disease (cGvHD) occurs again and again. This is when the donor’s immune cells attack the recipient’s body. Lung involvement in...…
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  • 8 min
  • This content is machine translated Progressive multiple sclerosis

New horizons: from BTK inhibitors to remyelination

The progressive forms of multiple sclerosis – primary progressive MS (PPMS) and secondary progressive MS (SPMS) – have presented neurologists with particular challenges for decades. Unlike relapsing-remitting MS (RRMS), where...…
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  • 4 min
  • This content is machine translated Case series

Bleeding prophylaxis for von Willebrand disease

Von Willebrand’s disease is predominantly inherited in an autosomal dominant manner and is the most common hereditary cause of a bleeding tendency. It is caused by a quantitative and/or qualitative...…
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  • 6 min
  • This content is machine translated Past, present and future

Biomarkers in schizophrenia

Schizophrenia is one of the most complex and serious psychiatric disorders. Despite decades of research, many of its causes remain unexplained. In recent years, interest in biomarkers has grown considerably,...…
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  • 7 min
  • This content is machine translated From genome profiles to targeted therapies

Advances in breast cancer therapy in the age of molecular diagnostics

The treatment of breast cancer has undergone a profound transformation over the last two decades. While clinical-pathological parameters long formed the sole basis for therapy decisions, molecular diagnostics and personalized...…
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  • 5 min
  • This content is machine translated Findings from the TRACK-FA study

Neuroimaging biomarkers in Friedreich’s ataxia

Friedreich’s ataxia (FA) is a rare, autosomal recessive neurodegenerative disease whose natural history and clinical characterization have made significant progress in recent decades. Nevertheless, there is still a lack of...…
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