Chronic Kidney Disease (CKD) is a prevalent health condition that can lead to various cardiovascular complications, including endothelial dysfunction and arterial stiffness. Endothelial dysfunction is characterized by impaired vasodilation, increased vascular permeability, and increased inflammatory response. Arterial stiffness, on the other hand, refers to the reduced ability of the arterial wall to stretch and accommodate the blood flow. Both of these complications contribute to the increased risk of cardiovascular events and mortality in patients with CKD [1]. Vitamin D, a fat-soluble vitamin, plays a crucial role in the regulation of calcium and phosphorus metabolism, bone health, and immune function [2]. Vitamin D deficiency is prevalent in patients with CKD due to reduced synthesis and increased urinary excretion of the active form of vitamin D (1,25-dihydroxyvitamin D) [3]. Vitamin D supplementation has been proposed as a potential therapy to improve cardiovascular outcomes in CKD patients by reducing inflammation, improving endothelial function, and reducing arterial stiffness [4]. The aim of this systematic review is to examine the impact of vitamin D supplementation on endothelial function and arterial stiffness in patients with CKD.

Approximately 20% of colorectal cancer patients already suffer from metastases at the time of diagnosis. Perhaps more serious, about 50% of the patients with localized tumours will eventually develop metastases during the course of their disease. A current hypothesis suggests that acquired or intrinsic chemoresistance is one of the major causes of metastasis. Recently, we found that circulating miR-122-5p and miR-142-5p could be used to predict both patient outcome and response to therapy. In the present study, we validate our previous results in patients with metastatic colorectal cancer (n=18), taking blood samples at three different times; i.e. metastasis resection surgery (T0), ~1 month after surgery (T1), and~8 months after surgery (T2). The expression levels of miR-122-5p and miR-142-5p were analysed in plasma and plasma extracellular vesicles (EVs) through RT-qPCR. The obtained results were compared against serum CEA and CA 19-9 levels, and computed tomography scans. The rectal cancer patients in the good prognostic group showed significantly increased miR-142-5p expression profile between T1 and T2; whereas the poor prognostic group showed a lower expression during T2 when compared with T1. The decreased expression of miR-142-5p in the latter group could also be seen in the EVs of the patients. This is consistent with our previous study, where the downregulation of miR-142-5p could be associated with poor response to therapy. In addition, the individual analyses showed that the downregulation of both miRNAs predicted tumour relapse at an earlier time point than the markers CEA and CA 19-9. In conclusion, the obtained data from this study demonstrates that miR-142-5p and miR-122-5p could be used as predictive bio-markers of tumour relapse in cases of metastatic rectal cancer, although further validation is still needed.

Background: Direct-to-Consumer (DTC) genetic testing provides genetic risk to consumers and motivates consumers to take care of their own customized health care. In 2018, we developed and provided a DTC genetic testing service (GENESTART™) in collaboration with Herbalife Korea Co. Ltd. Methods: The analyzed dataset consisted of the body fat percentage (BFP), body mass index (BMI), 31 genetic polymorphism genotypes, and responses to 19 questionnaire items of 24,447 individuals. The genetic main effects for BFP and BMI were examined by linear regression analysis, and the interaction effects were examined using a generalized linear model that controlled age and sex as covariates. Results: In the case of BFP, the sample average was 31.47% overall, 24.76% for men, and 32.79% for women, showing that men had an average BFP that was 8 percentage points lower than that of women. The average BMI was 25.38 overall, 26.45 for men, and 25.17 for women, showing that men had an average BMI of 1.2 kg/m2 higher than that of women. The FTO and MC4R genes, well-known obesity markers, showed a significant correlation with both phenotypes, and the BDNF gene, which is related to stress obesity, showed a highly significant association with BMI but only a weak association with BFP. Among the remaining genes, TRIB1, ABCA1, MYL2, G6PC, GCKR, GLIS3, CYP17A1, HECTD4, and NT5C2 genes showed significant associations with the obesity-related phenotypes. In this study, we found four interaction results for BFP (ABO and fruits, CYP1A2 and sugary foods, FTO and muscle exercise, MC4R and vitamins) and five interactions for BMI (MC4R and proteins, CSK and fruits, MC4R and calcium, DGKB and calcium, CSK and water). Conclusions: This study is expected to enable the provision of personalized and accurate solutions for BFP and BMI management to customers who have undergone genetic testing.

Objective: Global Tuberculosis (TB) eradication efforts must also focus on detecting and treating cases of Latent TB Infection (LTBI); persons with LTBI can progress to active TB at any time, often many years or even decades after the initial infection, thereby serving as a source of new infections. Methods: The aim was evaluated the diagnostic accuracy of the combination of serological host biomarkers that may support the differentiation between LTBI and Non-Infected (NI) individuals. A total of 182 adult Warao Amerindians were included; cases with LTBI (n=103) and Non-Infected (NI) individuals (n=79). The Real-time quantitative PCR (qPCR) was performed on all peripheral blood samples from Warao Amerindians and analyzed transcriptional immune biomarkers (i.e., IFN-γ, CD14, MMP-9, CCR5, CCL11, CXCL9/MIG, and uPAR/PLAUR proteins) under stimulation condition with ESAT-6, CFP10, and TB7.7 Mycobacterium Tuberculosis (Mtb)-antigens. Additionally, Enzyme-Linked Immunosorbent Assays (ELISA) were performed for evaluating host biomarker anti-synthetic peptides (5 ESAT-6 and 17 Ag85A synthetic peptides) covering Mtb antigen sequences. Results: The approach’s diagnostic information was compared using Receiver Operating Characteristic (ROC) curves. The ROC analysis revealed high biosignature discriminative ability for the relative gene expression of MMP-9 high levels (AUC=0.799 ± 0.071: 0.640 - 0.917, 95% CI), p < 0.002) between LTBI and NI; additionally IgG anti-synthetic peptide; ESAT-6 P-12037 (AUC=0.640; 0.545-0.735 95% CI, p<0.007) allowed differentiation between LTBI and NI or healthy ones. Conclusion: The accuracy of the MMP-9/IgG anti-P-12037 combination could have a high discriminative ability for diagnosing LTBI; such an approach holds promise for further validation.

Carney-Stratakis Syndrome (CSS), first described in 2002 [1], encompasses Gastrointestinal Stromal Tumors (GISTs) and Paragangliomas (PGLs) and has autosomal dominant inheritance with incomplete penetrance [2]. Germline mutations of Succinate Dehydrogenase (SDH) complex subunits and consequent SDH functional deficiency have been identified as responsible for CSS [3]. Here, we present a case with a new mutation site in SDHB that has not yet been reported.

Background: Type 2 Diabetes Mellitus (T2DM) is currently one of the most prominent and global chronic conditions. In recent years, it has been found that macromolecular polysaccharide has a significant effect on T2DM, various polysaccharides such as Angelica Sinensis Polysaccharide (ASP), Poriacocos polysaccharide and Atractylodesmacrocephala polysaccharide in DSS have effects on T2DM, but mechanism of polysaccharides of DSS(p-DSS) at the metabolic level is still unclear. The purpose of this work is to study the male and female mechanisms of p-DSS in treating T2DM based on metabolomics. Materials and Methods: In this study, metabolomics was used to elucidate the therapeutic mechanism of DSS in T2DM. Urinary samples were collected from male and female rats with T2DM, induced by a high-sugar and high-fat diet combined with Streptozotocin (STZ), to measure the levels of biochemical markers. Urinary metabolomics-based analysis using ultra-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry (UPLC-Q-TOF-MS) was conducted to evaluate the differential metabolites from multiple metabolic pathways. Results: After treatment with p-DSS for 4 weeks, biochemical indicators, including Fasting Blood Glucose (FBG), Fasting Insulin (FINS), Oral Glucose Tolerance Test (OGTT), Insulin Tolerance Test (ITT) and Homeostasis Model Assessment of Insulin Resistance (HOMA-IR), were significantly improved. Metabolomics results revealed that p-DSS regulated the biomarkers, such as PC, 2-oxoglutarate, NAAG in TCA cycle and alanine, aspartate and glutamate metabolism for male rats, on the contrary, leukotriene B4, cholic acid in arachidonic acid metabolism and primary bile acid biosynthesis for female rats. Conclusions: Based on metabolomics, the mechanisms of p- DSS in male and female rats are not identical.