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Genetics

130 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 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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  • 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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  • 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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  • 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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  • 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
View Post
  • 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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