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.