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Topic Review
Genetic Features of 22q11.2 Deletion Syndrome
The 22q11.2 region has a complex structure, characterized by low copy repeats (LCR22A, LCR22B, LCR22C, LCR22D) which share >96% of their sequence and are particularly prone to nonallelic homologous recombination during gametogenesis.
  • 101
  • 08 Mar 2024
Topic Review
Managing Colorectal Cancer from Ethology to Interdisciplinary Treatment
Colorectal cancer (CRC) is a common malignant tumor of the gastrointestinal tract, which has become a serious threat to human health worldwide. CRC is a complex disease due to its extensive heterogeneity; thus, effective treatment could be enhanced by the implementation of a personalized medicine approach. Despite constantly improved diagnostic and individualized therapeutic methods, CRC remains one of the biggest problems of contemporary medicine. Knowledge of the basic risk factors, early clinical symptoms, and available screening tests, as well as the preservation of oncological alert, allow the proper targeting of the diagnostic process and, consequently, the earlier diagnosis of the disease. Undoubtedly, new research at the molecular and genetic level allows us to precisely understand the process of initiation and progression of cancerous diseases and, consequently, precise, personalized prevention and treatment.
  • 97
  • 23 Feb 2024
Topic Review
Different Vitamin D Compounds in Adiposity
A large body of research shows an association between higher body weight and low vitamin D status, as assessed using serum 25-hydroxyvitamin D concentrations. Vitamin D can be metabolised in adipose tissue and has been reported to influence gene expression and modulate inflammation and adipose tissue metabolism in vitro. However, the exact metabolism of vitamin D in adipose tissue is currently unknown. White adipose tissue expresses the vitamin D receptor and hydroxylase enzymes, substantially involved in vitamin D metabolism and efficacy. The distribution and concentrations of the generated vitamin D compounds in adipose tissue, however, are largely unknown. Closing this knowledge gap could help to understand whether the different vitamin D compounds have specific health effects in the setting of adiposity. 
  • 80
  • 23 Feb 2024
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