Polskie Archiwum Medycyny Wewnętrznej
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Pol. Arch. Med. Wewn. · Jun 2023
Observational StudyRelationship of vitamin D deficiency to cardiovascular disease and glycemic control in patients with type 2 diabetes mellitus: The Silesia Diabetes-Heart Project.
Vitamin D (VD) has a pleiotropic effect on many health‑related aspects, yet the results of studies regarding vitamin D deficiency (VDD) and both glycemic control and cardiovascular disease (CVD) are conflicting. ⋯ About one‑third of the patients showed VDD. The VDD and VDS groups did not differ in terms of CVD occurrence and the difference in glycemic control was insignificant. The patients with VDD were more often treated with SGLT‑2is, which requires further investigation.
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Pol. Arch. Med. Wewn. · Jun 2023
Targeted sequencing of a gene panel in patients with Familial Hypercholesterolemia from Southern Poland.
Familial hypercholesterolemia (FH) is an autosomal dominant monogenic lipid metabolism disorder characterized by a significantly elevated level of low‑density lipoprotein (LDL) cholesterol and leading to premature ischemic heart disease. FH is caused by mutations in the LDLR, APOB, and PCSK9 genes; however, these mutations account for only about 40% of FH cases. In order to obtain a genetic diagnosis of FH, sequencing of other genes involved in the lipid metabolism might be useful. ⋯ NGS is a useful and reliable method to detect new variants in genes related to FH. In addition, the results enable the detection of FH phenocopies and introduction of appropriate treatment.