Rare LPL gene missense mutation in an infant with hypertriglyceridemia.

BACKGROUND: Severe hypertriglyceridemia usually results from a combination of genetic and environmental factors and is most often attributable to mutations in the lipoprotein lipase (LPL) gene. OBJECTIVES: The aim of this study was to identify rare mutations in the LPL gene causing severe hypertriglyceridemia. METHODS: A Chinese infant who presented classical features of severe hypertriglyceridemia recruited for DNA sequencing of the LPL gene. The pathogenicity grade of the variants was defined based on the prediction of pathogenicity using in silico prediction tools. Review some studies to understand the molecular mechanisms underlying the severe hypertriglyceridemia. RESULTS: We identified a rare mutation in the LPL gene causing severe hypertriglyceridemia: a nucleotide substitution (c.836T>G) resulting in a leucine to arginine substitution at position 279 of the protein (p.Leu279Arg).The pathogenicity of the variant was predicted by in silico analysis using PolyPhen2 and SIFT prediction programs, which indicated that mutation p.Leu279Arg is probably harmful. We have also reviewed published studies concerning the molecular mechanisms underlying severe hypertriglyceridemia. A missense mutation in the 6 exon of the LPL gene is reportedly associated with LPL deficiency. CONCLUSIONS: We have here identified a rare pathogenic mutation in the LPL gene in a Chinese infant with severe hypertriglyceridemia.

Single and combined use of red cell distribution width, mean platelet volume, and cancer antigen 125 for differential diagnosis of ovarian cancer and benign ovarian tumors.

BACKGROUND: Cancer is widely believed to result from chronic inflammation, and red cell distribution width (RDW) and mean platelet volume (MPV) are considered as inflammatory markers for cancer. We investigated the values of RDW, MPV, and cancer antigen 125 (CA125), alone or in combination, for distinguishing between ovarian cancer and benign ovarian tumors. METHODS: The study included 326 patients with ovarian cancer, 290 patients with benign ovarian tumors, and 162 control subjects. Hematologic tests were performed at initial diagnosis. RESULTS: RDW was increased and MPV was decreased in the ovarian cancer group compared with the control and benign ovarian tumor groups. RDW was positively correlated and MPV was negatively correlated with cancer stage. Area under the curve (AUC) analysis for ovarian cancer versus benign ovarian tumors revealed that the specificity and sensitivity were increased for the combination of MPV and CA125 compared with either marker alone, and the specificity was increased for the combination of RDW and CA125, compared with either alone. The AUCs for RDW plus CA125 and MPV plus CA125 were significantly larger than for any of the markers alone. CONCLUSIONS: In conclusion, combinations of the markers RDW, MPV, and CA125 may improve the differential diagnosis of ovarian cancer and benign ovarian tumors.

Prevalence of hyperhomocysteinemia during routine physical examination in Guangxi Province, China and related risk factors.

BACKGROUND: Studies on homocysteine (Hcy) have mainly focused on the correlation between the homocysteine concentration and disease development. Few epidemiological investigations have been performed. This study was conducted to investigate the prevalence of hyperhomocysteinemia (HHcy) during routine physical examination in Guangxi Province, China and the correlation of serum Hcy with gender, age, serum uric acid (UA), total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and blood glucose (GLU) to provide evidence for preventing and treating HHcy. METHODS: Data of 8043 patients who underwent physical examinations at the First Affiliated Hospital of Guangxi Medical University, China from 2015 to 2016 were collected. These data included gender, age, and the serum Hcy, UA, GLU, TC, TG, HDL-C, and LDL-C concentrations. RESULTS: The overall prevalence of HHcy was 50.8% (52.3% in males, 48.1% in females). Age, UA, TC, TG, and LDL-C were significantly higher and HDL-C was significantly lower in patients with than without HHcy, regardless of gender (all P<.05). The Hcy level was positively correlated with UA, TC, TG, and LDL-C but negatively correlated with HDL-C. Gender, age, UA, TC, and TG were independent risk factors for HHcy. CONCLUSION: The prevalence of HHcy was very high during routine physical examination in Guangxi Province, China. HHcy was related to gender, age, high concentrations of UA, TC, TG, and LDL-C; and low concentrations of HDL-C. Strengthening early intervention of HHcy can reduce the risk of cardiovascular disease.

The value of red cell distribution width in patients with ovarian cancer.

BACKGROUND: The red cell distribution width (RDW) has attracted attention in the diagnosis of malignant tumors. In this study, we analyzed the correlation between the RDW and ovarian cancer by observing changes in the RDW in patients with ovarian cancer. METHODS: Patients diagnosed with ovarian cancer at the First Affiliated Hospital of Guangxi Medical University, China, from 2012 to 2016, were retrospectively analyzed. Patients diagnosed with ovarian benign tumors in our hospital during the same period comprised the control group. Differences in relevant indicators were compared between the ovarian cancer and control groups using the Mann-Whitney U test. Differences in the RDW at different stages of ovarian cancer were compared using one-way analysis of variance. Correlations between the RDW and experimental parameters in patients with ovarian cancer were analyzed by Spearman correlation. RESULTS: The RDW, absolute neutrophil count (N), neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and cancer antigen 125 (CA-125) concentration were significantly higher in the ovarian cancer than control group. The hemoglobin concentration (Hb) and absolute lymphocyte count (L) were significantly lower in the ovarian cancer than control group. The RDW was significantly different among 4 different stages of ovarian cancer. Correlation analysis demonstrated that the RDW was negatively correlated with the hemoglobin concentration (Hb). The RDW was positively correlated with the cancer stage, NLR, PLR, and CA-125 concentration. The area under the receiver-operating characteristic curve of the RDW was 0.876 (95% confidence interval 0.829-0.923). CONCLUSION: The RDW is associated with ovarian cancer and is a potential marker of its progression.

Glucose Stability Study: NaF/Citrate Plasma Versus Serum.

BACKGROUND: Clinical laboratories often face practical concerns regarding the shipment condition of clinical specimens when considering the accuracy of glucose concentration test results. Therefore, the aims of this study were to explore whether the choice of the sample collection method has any effect on subsequent glucose measurements and to compare glucose stability in different shipment conditions at room temperature for up to 10 hours. METHODS: Paired fasting venous blood samples from 58 volunteers were collected in NaF/citrate tubes and in serum tubes without any additive. At 0, 1, 2, 3, 4, 5, 6, 7, 8, 9, and 10 hours, glucose levels were measured on a Hitachi 7600-020 analyzer using the Glucose GOD-PAP method. RESULTS: The mean measured glucose concentration was significantly higher in plasma than in serum (5.07 ? 0.33 mmol/L vs. 4.79 ? 0.38 mmol/L, respectively, p < 0.001) at 0 hours. Passing-Bablok regression revealed a significant difference between the plasma and serum samples. The regression equation was y = 0.765 + 0.893 x (intercept A 95% CI: 0.405 -1.158; slope B 95% CI: 0.812-0.968). A negative bias of 0.28 mmol/L (95% CI: 0.00-0.56) was observed for samples collected in serum tubes. Similar results were found at the other ten time points (1, 2, 3, 4, 5, 6, 7, 8, 9, and 10 hours). Glycolysis was higher in serum tubes (13.4%) than in NaF/citrate tubes (2%) after 10 hours at room temperature. CONCLUSIONS: Compared to the serum tube, NaF/citrate plasma tube is suitable for shipping venous whole blood samples within 10 hours at room temperature without undergoing significant glycolysis.