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- Malczewska, Anna, et al.
(author)
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The clinical applications of a multigene liquid biopsy (NETest) in neuroendocrine tumors
- 2020
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In: Advances in Medical Sciences. - : Elsevier BV. - 1896-1126 .- 1898-4002. ; 65:1, s. 18-29
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Research review (peer-reviewed)abstract
- Purpose: There are few effective biomarkers for neuroendocrine tumors. Precision oncology strategies have provided liquid biopsies for real-time and tailored decision-making. This has led to the development of the first neuroendocrine tumor liquid biopsy (the NETest). The NETest represents a transcriptomic signature of neuroendocrine tumor (NETs) that captures tumor biology and disease activity. The data have direct clinical application in terms of identifying residual disease, disease progress and the efficacy of treatment. In this overview we assess the available published information on the metrics and clinical efficacy of the NETest. Material and methods: Published data on the NETest have been collated and analyzed to understand the clinical application of this multianalyte biomarker in NETs. Results: NETest assay has been validated as a standardized and reproducible clinical laboratory measurement. It is not affected by demographic characteristics, or acid suppressive medication. Clinical utility of the NETest has been documented in gastroenteropancreatic, bronchopulmonary NETs, in paragangliomas and pheochromocytomas. The test facilitates accurate diagnosis of a NET disease, and real-time monitoring of the disease status (stable/progressive disease). It predicts aggressive tumor behavior, identifies operative tumor resection, and efficacy of the medical treatment (e.g. somatostatin analogues), or peptide receptor radionuclide therapy (PRRT). NETest metrics and clinical applications out-perform standard biomarkers like chromogranin A. Conclusions: The NETest exhibits clinically competent metrics as an effective biomarker for neuroendocrine tumors. Measurement of NET transcripts in blood is a significant advance in neuroendocrine tumor management and demonstrates that blood provides a viable source to identify and monitor tumor status.
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| 2. |
- Swierkowska, Joanna, et al.
(author)
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Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe
- 2021
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In: Advances in Medical Sciences. - : ELSEVIER URBAN & PARTNER SP Z O O. - 1896-1126 .- 1898-4002. ; 66:1, s. 192-198
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Journal article (peer-reviewed)abstract
- Purpose: High myopia (HM) is an eye disorder with both environmental and genetic factors involved. Many genetic factors responsible for HM were recognized worldwide, but little is known about genetic variants underlying HM in Central Europe. Thus, the aim of this study was to identify rare sequence variants involved in HM in families from Central Europe to better understand the genetic basis of HM. Materials and methods: We assessed 17 individuals from 7 unrelated Central European families with hereditary HM using exome sequencing (ES). Segregation of selected variants in other available family members was performed using Sanger sequencing. Results: Detected 73 rare variants were selected for verification. We observed 2 missense variants, c.938C>T in SLC35E2B - encoding solute carrier family 35 member E2B, and c.1642G>C in FLRT3 - encoding fibronectin leucine rich transmembrane protein, segregating with HM in one family. Conclusions: FLRT3 and/or SLC35E2B could represent disease candidate genes and identified sequence variants might be responsible for HM in the studied family.
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| 3. |
- Pierzynowski, Stefan, et al.
(author)
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Alpha-ketoglutarate, a key molecule involved in nitrogen circulation in both animals and plants, in the context of human gut microbiota and protein metabolism
- 2022
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In: Advances in Medical Sciences. - : Elsevier BV. - 1896-1126. ; 67:1, s. 142-147
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Research review (peer-reviewed)abstract
- Purpose: Nitrogen (N2) is an indispensable metabolite required for the synthesis of protein. In animals, gut bacteria and, to a certain extent, even hepatocytes, are able to assimilate nitrogen from ammonium (NH4+), which is essentially derived from the amine group (-NH2) and which is at the same time a very toxic metabolite. Initially, NH4+ is coupled to alpha-ketoglutarate (AKG), a reaction which results in the appearance of glutamate (one amine group), and after that, in the appearance of glutamine - containing two amine groups. The surplus of NH4+ which is not utilized by AKG/glutamate/glutamine is eliminated as urea in the urine, via the urea cycle in hepatocytes. Plants bacteria also assimilate nitrogen from NH4+, by its fixation to ammonia (NH3)/NH4+. Materials/methods: Previous studies have shown that AKG (also known as 2-oxo-glutaric acid or 2-oxopentanedioic acid), the primary metabolite of Rhizobium and gut bacteria, is essential for the assimilation of nitrogen. Results: Symbiotic bacteria produce AKG, which together with glutamate dehydrogenase (GDH), ‘generates’ primarily amine groups from NH4+. The final product is glutamate – the first amino acid. Glutamate has the capacity to be converted to glutamine, through the action of glutamine synthetase, after the assimilation of the second nitrogen from NH4+. Conclusion: Glutamate/glutamine, derivatives of AKG metabolism, are capable of donating amine groups for the creation of other amino acids, following NH2 transamination to certain metabolites e.g., short chain fatty acids (SCFA).
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