This content is machine translated Epidermolysis bullosa Promoting Wound Healing with Gene Therapies and Birch Bark Extract Epidermolysis bullosa (EB) requires an interdisciplinary management approach tailored to the diagnosed EB subtype. Recently, new therapeutic approaches have been approved to improve symptomatic treatment. While a gel formulation containing...…
View Post 7 min This content is machine translated Obesity in Children and Adolescents Gene-Environment Interactions: Polygenic or Monogenic Determinants? In the context of precision medicine, a differentiated approach to the diagnosis of obesity provides an essential foundation for implementing improved strategies for prevention, treatment, and prognosis. Obesity is often...…
View Post 9 min This content is machine translated Congenital Vascular Malformations Personalized Treatment Before a Planned Pregnancy Vascular malformations have a prevalence of 1% and an incidence of 3–5 per 10,000. Anomalies can affect any organ system in children and adults. Mosaic mutations occurring during embryonic development...… CME-Test
View Post 7 min This content is machine translated Disease-modifying therapies for ATTR-CM TTR stabilizers, gene silencing and gene scissors: where do we stand? Advances in the understanding of the pathophysiology of transthyretin amyloid cardiomyopathy (ATTR-CM) have revolutionized the therapeutic landscape in recent years. TTR stabilizers such as tafamidis and acoramidis can reduce TTR...…
View Post 15 min This content is machine translated T helper 1 cells Differentiation and activation of Th1 cells – a multi-omics approach T cells are an important part of our immune system. T helper (Th) cells support and coordinate central functions of the adaptive immune response and thus contribute significantly to the...… CME-Test
View Post 7 min This content is machine translated Case study 8-year-old girl with Pätau syndrome aka trisomy 13 The median survival time for live-born children with complete trisomy 13 without medical intervention is 7-10 days. Over 90% of affected newborns die in the first year of life. Risk...…
View Post 12 min This content is machine translated Prevention and early detection: breast and ovarian cancer Screening strategies, risk genetics and guideline recommendations Breast cancer is the most common cancer in women worldwide – and also the one with the greatest potential for reducing mortality through structured screening. A German long-term study presented...…
View Post 5 min This content is machine translated Case study Autosomal recessive polycystic kidney disease: atypical phenotype In a 5-year-old boy with renal ultrasound findings typical of autosomal recessive polycystic kidney disease (ARPKD), numerous large liver cysts were found – atypical for this disease. Genetic analyses revealed...…
View Post 33 min This content is machine translated CRC, AML and melanoma in focus Molecular mechanisms of tumor plasticity Tumor plasticity, epigenetic reprogramming and the dynamic tumor microenvironment shape the biology of CRC, AML and melanoma and influence their therapeutic vulnerability. Modern therapeutic approaches combine molecular profiles, TME signatures...… CME-Test
View Post 5 min This content is machine translated Friedreich's ataxia Interim analyses of the PROFA study show “Unmet needs” The PROFA study focuses, among other things, on patient-reported psychosocial effects of Friedreich’s ataxia (FRDA) at different stages of the disease. The study comprises a cohort of FRDA patients in...…
View Post 5 min This content is machine translated Ataxias Friedreich’s ataxia: when the energy metabolism attacks the nervous system Energy deficiency instead of pure oxidative stress: New data show that in Friedreich’s ataxia, disturbances in fatty acid and ketone body metabolism in particular contribute to selective neurodegeneration. The article...…
