Objective:To study the relationship between neutrophil to lymphocyte ratio (N/L) and traditional cardio‐vascular risk factors among community 35~64‐year‐old residents .Methods :A total of 1884 residents (548 males and 1336 females) from urban Shenyang city received baseline condition questionnaire on cardiovascular diseases and re‐lated diseases from Apr 2011 to Feb 2012. According to presence of cardiovascular risk factors or not ,subjects were divided into healthy control group (n=675) and risk factor group (n=1209);according to number of risk factors , risk factor group was further divided into one risk factor group (n=491) ,two risk factors group (n=263) and ≥3 risk factors group (n=455) .Morning blood sample and urine sample were retained to measure blood and urine rou‐tine ,blood glucose and blood lipid profile etc in all subjects .N/L was compared and analyzed among all groups .Re‐sults:Among patients with only one of following risk factors [hypertension ,diabetes mellitus (DM) ,dyslipidemia and obesity] ,N/L levels of patients with hypertension or DM were significantly higher than that of healthy control group [1.55(1.15 ,1.95) ,1.60(1.21 ,2.07) vs .1.45(1.09 ,1.91)] , P<0.05 both ,and there were no significant difference between any other one risk factor group and healthy control group , P>0.05 all .Among risk factor sub‐groups ,N/L level of ≥3 risk factors group was significantly higher than that of two risk factors group [1.57(1.16 , 2.04) vs .1.41(1.07 ,1.89) ,P<0.05] ,and there was no significant difference between any other two groups (P>0.05) .Conclusion:N/L significantly related to hypertension or DM ,and N/L level of ≥3 risk factors group was sig‐nificantly higher than that of two risk factors group ,N/L is helpful to assess risk of cardiovascular diseases .

BACKGROUND AND OBJECTIVEHuman achaete-scute homolog 1 (hASH1) gene plays a critical role in development of the central nervous system, automatic nervous system, adrenal medullary chromaffin cells, thyroid C cells and pulmonary neuroendocrine cells. The aim of this study is to determine hASH1 gene expression in the normal lung tissue and various types of lung tumors, to analyze whether its expression correlated with pulmonary neuroendocrine markers, and to explore the possibility of hASH1 as clinical pathological markers in the neuroendocrine tumors compared with previous neuroendocrine tumor markers.

METHODShASH1, Chromogranin A, Synaptophysin and CD56 expression were examined in lung tumor specimens (lung inflammatory pseudotumor, squamous cell carcinoma, adenocarcinomas, large cell carcinoma, typical carcinoids, atypical carcinoids, large cell neuroendocrine carcinomas and small cell lung carcinoma and corresponding normal lung specimens) using immunohistochemistry (S-P method). Western blot and reverse transcription polymerase chain reaction (RT-PCR) assay were applied to detect the expressions of hASH1 protein and mRNA in lung cancer tissues.

RESULTShASH1 expression was positive in 2/16 (12.5%) typical carcinoids, 15/20 (75%) atypical carcinoids, 6/10 (60%) large cell neuroendocrine carcinomas and 31/40 (77.5%) small cell lung carcinoma, respectively, but not in any normal lung tissue (0/10), lung inflammatory pseudotumor (0/49), squamous cell carcinoma (0/30), adenocarcinomas (0/30) or large cell carcinoma (0/20). There was a significant difference in hASH1 expression between typical carcinoids and atypical carcinoids (P < 0.01), but not in large cell neuroendocrine carcinomas and small cell lung carcinoma (P > 0.05). hASH1 expression highly closely correlated with Chromogranin A, Synaptophysin and CD56 expression (P < 0.05).

CONCLUSIONhASH1 is a new kind of highly specific markers of pulmonary neuroendocrine tumours, and may be applied to clinical pathology diagnosis of the pulmonary neuroendocrine tumors.

Adenocarcinoma ; genetics ; metabolism ; pathology ; Basic Helix-Loop-Helix Transcription Factors ; genetics ; metabolism ; Carcinoma, Large Cell ; genetics ; metabolism ; pathology ; Carcinoma, Neuroendocrine ; genetics ; metabolism ; pathology ; Carcinoma, Squamous Cell ; genetics ; metabolism ; pathology ; Gene Expression Regulation, Neoplastic ; genetics ; physiology ; Humans ; Immunohistochemistry ; Lung Neoplasms ; genetics ; metabolism ; pathology ; Neuroendocrine Tumors ; genetics ; metabolism ; pathology ; Reverse Transcriptase Polymerase Chain Reaction ; Small Cell Lung Carcinoma ; genetics ; metabolism ; pathology

Objective To investigate correlation between QT interval(QT),corrected QT interval(QTc) and metabolic syndrome(MS). Methods Residents who participated in our survey concerning atherosclerosis and related diseases conducted in Shenyang were included. They accomplished questionnaire,physical examination, laboratory tests and electrocardiography test. We divided them into MS group and non-metabolic syndrome (NMS)group according to International Diabetes Federation(IDF)diagnostic criteria for MS. QT interval was measured from the standard 12-lead electrocardiogram. QTc was calculated by using Bazett and Fridericia equations. We analyze correlation of QT ,QTc and MS. Results A total of 739 residents who were 35~64 years old were included. Individuals with MS had longer QTcB and QTcF than NMS group[(415.8 ± 31.9)ms vs.(410.1 ± 32.1)ms, (407.2± 29.1)ms vs.(402.6 ± 28.8)ms,P<0.05]. The more the number of abnormal MS parameters they had, the longer the QT,QTcB and QTcF they had. Regression analysis showed that QT was associated with serum potassium,smoking,blood glucose,and LDL,and QTcB and QTcF were associated with hypertension,waist circumference and blood potassium. Conclusions MS is associated with corrected QTc. Careful ECG monitoring among persons with MS for early detection of a long corrected QT interval may prevent severe and often fatal arrhythmias or sudden death.

The goal of this study was to identify MSX1 gene variants in multiple Chinese families with nonsyndromic oligodontia and analyse the functional influence of these variants. Whole-exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variants in five families with nonsyndromic oligodontia, and a series of bioinformatics databases were used for variant confirmation and functional prediction. Phenotypic characterization of the members of these families was described, and an in vitro analysis was performed for functional evaluation. Five novel MSX1 heterozygous variants were identified: three missense variants [c.662A>C (p.Q221P), c.670C>T (p.R224C), and c.809C>T (p.S270L)], one nonsense variant [c.364G>T (p.G122*)], and one frameshift variant [c.277delG (p.A93Rfs*67)]. Preliminary in vitro studies demonstrated that the subcellular localization of MSX1 was abnormal with the p.Q221P, p.R224C, p.G122*, and p.A93Rfs*67 variants compared to the wild type. Three variants (p.Q221P, p.G122*, and p.A93Rfs*67) were classified as pathogenic or likely pathogenic, while p.S270L and p.R224C were of uncertain significance in the current data. Moreover, we summarized and analysed the MSX1-related tooth agenesis positions and found that the type and variant locus were not related to the severity of tooth loss. Our results expand the variant spectrum of nonsyndromic oligodontia and provide valuable information for genetic counselling.
Anodontia/genetics* ; Humans ; MSX1 Transcription Factor/genetics* ; Pedigree ; Whole Exome Sequencing