Objective: To explore the SNP effects of patatin-like phospholipase domain which containing 3 (PNPLA3), transmembrane 6 superfamily member 2 (TM6SF2) gene, environmental effects of smoking, alcohol drinking and interaction between gene-gene, gene-environment and drinking-smoking on hepatitis B virus-associated hepatocellular carcinoma (HBV-HCC). Methods: We collected anticoagulant peripheral blood from patients of HBV-HCC, chronic hepatitis B (CHB), liver cirrhosis (LC) and from healthy controls to detect the single nucleotide polymorphism (SNP) of patatin-like phospholipase domain containing 3 (PNPLA3) gene loci rs738409 and transmembrane 6 superfamily member 2 (TM6SF2) gene loci rs58542926, using the flight mass spectrometry method. The optimal assignment value of gene polymorphisms was defined by using the online SNP stats. Hardy-Weinberg (H-W) balance was tested for SNP. Effects of the genetic and environmental factors to HBV-HCC were analyzed by using the multiple classification logistic regression method. The gene-gene, gene-smoking and alcohol drinking interaction effects were investigated by Fork-Life analysis and binary logistic regression methods. Results: The frequency distribution of CHB group rs738409 loci seemed not in conformity with the H-W balance (χ(2)=11.980, P<0.005). Two loci frequency distributions in the other groups were all in accordandce with the H-W balance. After adjusting for influences on age and sex and comparing to the healthy group, the rs58542926 mutation appeared as OR=1.659, 95%CI: 1.026-2.684, P=0.039, in the HBV-HCC group. When comparing to CHB group, the HBV-HCC group presented that drinking as OR=1.680, 95%CI: 1.121-2.519, P=0.012. When comparing to the LC group, the ORs of drinking and smoking were 1.539 (1.071-2.213) and 1.453 (1.005-2.099) respectively, in the HBV-HCC group. When comparing to the CHB+LC group, interactions between the HBV-HCC group were found rs738409 and rs58542926 on additive model OR=1.548 (U=1.885, P=0.029) and OR=1.658 (P=0.024) on logistic regression model while drinking was rs738409 on interaction additive model with OR=1.811(U=1.965, P=0.024). As for drinking and mutation of rs738409, the multiplication model of logistic regression showed no statistically significant differences. Interaction between smoking and drinking appeared as OR=1.756 (P<0.001) in the logistics regression multiplication model. Conclusions: Factors as mutation of TM6SF2, smoking and drinking all appeared as risk factors for HBV-HCC. Mutations of both PNPLA3 and TM6SF2, together with smoking and drinking all served as risk factors for HBV-HCC. However, the mutation of single PNPLA3 appeared as a protective factor on HBV-HCC.
Alcohol Drinking/adverse effects* ; Carcinoma, Hepatocellular/virology* ; Case-Control Studies ; Epistasis, Genetic ; Gene-Environment Interaction ; Genetic Predisposition to Disease ; Genotype ; Hepatitis B virus ; Hepatitis B, Chronic ; Humans ; Lipase/genetics* ; Liver Cirrhosis, Alcoholic/complications* ; Liver Neoplasms/virology* ; Membrane Proteins/genetics* ; Polymorphism, Single Nucleotide ; Smoking/adverse effects*

In this article, we provide an update review on the implication of the assessment of human sperm function and the management of male infertility in clinical assisted reproductive technology (ART) known as in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). In most ART clinics, the assessment of male fertility is still mainly based on routine semen analysis but it is inaccurate in predicting sperm fertilizing ability. Thus it is often difficult to determine if IVF or ICSI will be an optimal treatment for patients in the initial cycle. Before introduction of ICSI, frequency of low ( <30%) fertilization rate in IVF was very high (20-35% of patients). Evidence suggests that sperm defects are the major contributors to complete failure of fertilization in IVF. Most common sperm defects are oligozoospermia, asthenozoospermia and teratozoospermia though many of the patients are shown to be normal in routine semen analysis. In the literature, many new sperm function tests have been developed, including sperm DNA normalities assessed by Acridine Orange (AO), sperm-zona pellucida (ZP) binding, the ZP-induced acrosome reaction (AR) , sperm-ZP penetration and recently hyaluronan binding assay (HBA). For routine semen analysis, sperm morphology is one of the most useful values for the prediction of sperm function but is also the most difficult test to perform accurately and consistently. Oocytes that failed to fertilize in clinical IVF/ICSI are valuable biological materials for testing sperm function. The human ZP selectively binds sperm with normal morphology and an intact acrosome. The ZP-induced AR is highly correlated with sperm-ZP penetration and disordered ZP-induced AR causes infertility in about 25% men with unexplained infertility with normal semen analysis. Both oligozoospermic (sperm count < 20 x 10(6) /ml) and severe teratozoospermia (strict normal sperm morphology < or =5%) men have a very high ( >70%) frequency of defective sperm-ZP interaction. Thus patients with defects of sperm-ZP interaction should be identified and treated with ICSI since they have high risk of low or zero fertilization rate in IVF. HBA test highly correlates with sperm motility and normal morphology but provides no additional information about sperm fertility. Clinical value of sperm DNA normalities detected by AO for the prediction of ART outcomes is currently still inconclusive and requires further investigation. In conclusion, addition of some of these new sperm tests to routine semen analysis could significantly improve the management of male infertility in clinical ART.
DNA Damage ; Humans ; Infertility, Male ; diagnosis ; physiopathology ; therapy ; Male ; Sperm Count ; Sperm Injections, Intracytoplasmic ; Sperm Motility ; Sperm-Ovum Interactions ; Spermatozoa ; physiology

Posttraumatic tremor is often one of the causes of disability in head injury patients. Usually, pharmacotherapy for this type of tremor is not effective. Since early 1970s, surgical ablation of the ventral thalamus has been used to treat various types of tremor. Nowadays, deep brain stimulation (DBS) confirms its efficacy in alleviating different forms of tremor, including posttraumatic tremor. Such therapy has been reported achieving around 80% success rate in the treatment of posttraumatic tremor. These successful results suggest that the application of DBS therapy can be considered as one of the alternative treatments for minimizing the tremor occurring from different pathologies.
Adult ; Craniocerebral Trauma ; complications ; Deep Brain Stimulation ; methods ; Electrodes ; Humans ; Male ; Tremor ; therapy

Disinfection ; Escherichia coli ; isolation & purification ; Hospitals ; Medical Waste ; Sewage ; Waste Products ; Water Microbiology

INTRODUCTIONThe proteins found in tears play an important role in maintaining the ocular surface and changes in tear protein components may reflect changes in the health of the ocular surface. Proteomics provides a comprehensive approach for cataloguing all the proteins of the tear proteome, which will help to elucidate disease pathogenesis, make clinical diagnoses and evaluate the influence of medications on the structure, composition and secretion of tear proteins. In this study, an alternative proteomic strategy was investigated to explore the human tear proteome.

MATERIALS AND METHODSTear samples were obtained from patients who had pterygium and were collected on the first day and third day after pterygium surgery. Tears pooled from 6 patients were used in the analysis. Reverse-phase high-pressure liquid chromatograph (RPHPLC) was used as the first step to separate intact proteins into 21 peaks. Each fraction was then tryptic-digested and analysed by nanoLC-nano-ESI-MS/MS to characterise the protein components in each fraction.

RESULTSIn total, 60 tear proteins were identified with high confidence, including well-known abundant tear proteins, and tear-specific proteins such as lacritin and proline-rich proteins. Among them, proline-rich protein 5 was found for the first time in tear fluid. A large number of plasma proteins were also observed in tear fluid.

CONCLUSIONSThe results showed that the proteomic strategy used in this study was successfully applied to analyse tear proteome.

Eye Proteins ; analysis ; Humans ; Mass Spectrometry ; methods ; Proteome ; Tears ; chemistry

Objective: To investigate the effects of hepatitis B virus (HBV) genotype and mutations on the development of hepatocellular carcinoma (HCC) and to establish a new qualified HCC risk scores. Methods: A cohort study enrolling patients with chronic HBV infection was conducted. HBV genotypes were identified by nested multiplex PCR. HBV mutations in the basic core promoter region and PreS region were sequenced after PCR amplification. Scores on risk factors were set based on nomogram. Results: Totally, 1 525 patients were followed-up in this research. A total of 1 110 patients infected with genotype C were followed-up for 8.52 (Q(R): 5.36-11.68) years on average, of whom the incidence of HCC was 11.93/1 000 person-years. In genotype C HBV infected patients, male gender, aged 40 years and over, and four DNA mutations (T1674CG, A1762T/G1764A, A3120T, and A2962G) can increase the risk of HCC (P<0.05); interferon therapy can reduce the risk of HCC (P<0.05). A new HCC predicting model was established according to the results. After validation, the predicted disease-free survival rate was consistent with the real one. Conclusions: Hepatitis B virus genotypes and mutations were closely associated with HCC. The new risk scoring system can well predict HCC occurrence in genotype C HBV infected patients.
Adult ; Aged ; Carcinoma, Hepatocellular/virology* ; China/epidemiology* ; Cohort Studies ; DNA, Viral/genetics* ; Female ; Genotype ; Hepatitis B virus/genetics* ; Hepatitis B, Chronic/complications* ; Humans ; Liver Neoplasms/virology* ; Male ; Middle Aged ; Mutation ; Predictive Value of Tests ; Risk Factors ; Sensitivity and Specificity

OBJECTIVETo develop a simplified Chinese version of the 32-item Quebec sleep questionnaire (QSQ) and to examine the reliability and validity.

METHODSA cross-sectional sample of 141 patients [22 simple snorers and 119 obstructive sleep apnea hypopnea syndrome (OSAHS)] and a longitudinal sample of 55 patients [35 in uvulopalatopharyngoplasty (UPPP) group and 20 in control group] completed the simplified Chinese version of QSQ for assessment of its feasibility, reliability, validity and responsiveness.

RESULTSQSQ had good feasibility. All internal consistency coefficients exceeded 0.65. Intraclass correlation coefficients of five domains for test-retest reliability ranged from 0.82 - 0.91. There were significant differences in four domains (daytime sleepiness, diurnal symptoms, nocturnal symptoms and social interactions) among patients with different severity of apnea hypopnea index (AHI) and lowest saturation of arterial oxygen (LSaO2, P < 0.01 or < 0.05). Correlations between QSQ scores and five domains and Epworth sleepiness scale (ESS) were statistically significant (P < 0.01). Correlations between QSQ scores and three domains (daytime sleepiness, nocturnal symptoms and social interactions) and polysomnography (PSG) indices (AHI and LSaO2) were statistically significant (P < 0.05). There were significant differences in scores of five domains of patients between at baseline and after UPPP. There were significant differences in change scores of five domains between patients who were treated and those who were not.

CONCLUSIONThe simplified Chinese version of QSQ offers good reliability, validity and responsiveness and can be used as a OSAHS-specific instrument to assess impact of illness and treatment effectiveness in OSAHS patients.

Adult ; Asian Continental Ancestry Group ; Female ; Humans ; Language ; Male ; Middle Aged ; Quality of Life ; Quebec ; Reproducibility of Results ; Sleep ; Sleep Apnea, Obstructive ; Surveys and Questionnaires

AIMTo produce biologically active recombinant human (rh) ZP proteins in a human cell for use in sperm function tests.

METHODSThe human embryonic kidney cell line 293T was employed to produce rhZP1, rhZP2 and rhZP3 proteins individually and together by co-expression. Presence of these proteins in the culture medium and cell lysate was assessed by Western blotting analysis. The effect of the recombinant proteins on the human AR was assessed.

RESULTSRhZP2 and rhZP3 were secreted into the culture medium, whereas rhZP1 was found only in the cell lysate. Interestingly, when all zona pellucida proteins were co-expressed in the same cells, rhZP1 was also secreted into the culture medium. However, despite the presence of all three ZP proteins in sufficient concentration and evidence of heavy glycosylation on gel electrophoresis, biological activity to induce the AR was not observed.

CONCLUSIONRhZP1, rhZP2 and rhZP3 were successfully expressed in the human embryonic kidney cell line 293T. It appears that an interaction amongst these proteins may be required for release of rhZP1 from the cell. Although this approach is not satisfactory for producing active human ZP proteins, it makes a significant contribution to the understanding of the structural and functional characteristics of the ZP proteins.

Acrosome Reaction ; drug effects ; Blotting, Western ; Cell Line ; Egg Proteins ; analysis ; genetics ; pharmacology ; Embryo, Mammalian ; Female ; Fluorescent Antibody Technique ; Gene Expression ; Glycoside Hydrolases ; metabolism ; Glycosylation ; Humans ; Kidney ; Male ; Membrane Glycoproteins ; analysis ; genetics ; pharmacology ; Receptors, Cell Surface ; analysis ; genetics ; Recombinant Proteins ; analysis ; pharmacology ; Zona Pellucida Glycoproteins

INTRODUCTIONDermatomyositis (DM) is a multisystem inflammatory disease with a strong association with malignancy. We aimed to describe a series of Asian patients with DM and identify any significant clinical factors associated with malignancy.

MATERIALS AND METHODSThis was a retrospective review of a multi-racial cohort of 69 Asian patients diagnosed with DM over an 11-year period from 1996 to 2006.

RESULTSMalignancy was detected in 15 out of 68 patients (22%), the most common of which was nasopharyngeal carcinoma (7 cases). Compared to the non-malignancy group, the malignancy-associated group was older and had more male patients. There were no statistically significant clinical, serological or laboratory factors associated with a higher risk of malignancy.

CONCLUSIONThis study highlights the importance of ongoing malignancy screening especially for nasopharyngeal carcinoma in Asian patients with DM.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Carcinoma ; Confidence Intervals ; Dermatomyositis ; complications ; epidemiology ; immunology ; pathology ; Female ; Humans ; Logistic Models ; Male ; Middle Aged ; Muscle Weakness ; Nasopharyngeal Neoplasms ; epidemiology ; immunology ; pathology ; Odds Ratio ; Paraneoplastic Syndromes ; complications ; epidemiology ; immunology ; pathology ; Retrospective Studies ; Risk Factors ; Singapore ; epidemiology ; Young Adult

Objective: To understand the transmission patterns and risk factors of HIV-1 strain CRF01_AE subtypes in China, and to provide guidance for the implementation of precise intervention. Methods: A total of 2 094 CRF01_AE pol sequences were collected in 19 provinces in China between 1996 and 2014. Phylogenetic tree was constructed by PhyML 3.0 software to select the transmission clusters. Transmission network was constructed by Cytoscape 3.6.0, which was further used for exploring of the major risk factors. Results: Of the 2 094 sequences, 12.18% (255/2 094) were in clusters. A total of 82 transmission clusters were identified. The numbers of clusters and contained sequences in intra-provincial transmission (61, 173) were significantly more than those in inter-provincial transmission (21, 82). The ratio of transmission clustering in MSM increased over time from 2.41% (2/83) during 1996-2008 to 23.61% (72/305) during 2013-2014, showing a significant upward trend (χ(2)=27.800, df=1, P=0.000). The proportion of MSM with inter-provincial transmission clusters were higher than those with intra-provincial transmission clusters, which increased from 0.67% (2/297) during 1996-2008 to 6.36%(30/472) during 2013-2014, showing a significant upward trend (χ(2)=20.276, df=1, P=0.000). The transmission rate in homosexuals of the inter-transmission clusters (86.59%, 71/82) was higher than that of intra-provincial transmission clusters (56.65%, 98/173), and the difference was statistically significant (χ(2)=22.792, P=0.000). The proportion of inter-provincial transmission clusters with more than 2 transmission routes (33.33%, 7/21) was higher than that of intra-provincial clusters (13.11%, 8/61), and the difference was statistically significant (χ(2)=4.273, P=0.039). Results from the transmission network analysis indicated that the proportion of high risk population (degree≥4) with inter-provincial transmission clusters (51.22%, 42/82) was significantly higher than that with intra-provincial transmission clusters (26.59%, 46/173), and the difference was statistically significant (χ(2)=14.932, P=0.000). Inter-provincial clusters were mainly detected in and and MSM. Conclusions: Complex transmission networks were found for HIV-1 CRF01_AE strains in the mainland of China. Inter-provincial transmission clusters increased rapidly, MSM played an important role in the wide spread of the strain. More researches in transmission networks are needed to guide the precision intervention.
China/epidemiology* ; HIV Infections/virology* ; HIV-1/isolation & purification* ; Homosexuality, Male/statistics & numerical data* ; Humans ; Male ; Phylogeny