Fabry disease, a rare genetic disorder affecting multiple organs, has understudied correlations among enzyme activity, genotype, and clinical manifestations in patients of different sexes with classical and late-onset phenotypes. In this study, clinical data, α-Gal A activity, and GLA gene test results of 311 patients, who were categorized by classical and late-onset phenotypes, ⩽5% and > 5% of the normal mean value of enzyme activity, and truncated and nontruncated mutation groups, were collected. The common clinical manifestations of Fabry disease included acroparesthesia, hypohidrosis/anhidrosis, neuropsychiatric system, and renal and cardiovascular involvement. Multiorgan involvement was higher in males and classical phenotype patients. In both sexes, classical patients commonly presented with acroparesthesia and multiorgan involvement, whereas late-onset patients showed renal, neuropsychiatric, and cardiovascular involvement. Male and classical patients had lower enzyme activity than female and late-onset patients, respectively. Classical males with enzyme activity of ⩽5% of the normal mean level showed higher multiorgan involvement frequency than those with enzyme activity of > 5%, whereas no significant difference was observed among females. Ninety-five gene mutation sites were detected, with significant phenotype heterogeneity in patients with the same mutation. No significant difference in enzyme activity or clinical manifestations was observed between truncated and nontruncated mutations. Overall, male patients with Fabry disease, regardless of classical or late-onset phenotype, have a higher frequency of multiple-organ involvement and lower α-Gal A activity than female patients. α-Gal A activity was closely correlated with clinical symptoms in males but weakly correlated with clinical manifestations in females. The clinical manifestations of patients with the same mutation are heterogeneous, and the correlation between gene mutation and enzyme activity or clinical manifestation is weak.
Adolescent ; Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Young Adult ; Age of Onset ; alpha-Galactosidase/metabolism* ; China ; Fabry Disease/enzymology* ; Genotype ; Mutation ; Phenotype ; Sex Factors ; East Asian People/genetics*

Objective:To investigate the infection and treatment of helicobacter pylori (HP) in flying personnel, as well as their cognition of HP.Methods:By using cluster sampling method, the flying personnel who recuperated at the Second Sanatorium of Air Force Healthcare Center for Special Services Hangzhou were selected for questionnaire survey. They were divided into positive group and negative group according to whether they were infected with HP. The cognition of HP (such as whether they had known HP, how to detect HP, and the symptoms, infection route, as well as the knowledge on treatment and prevention of HP) were compared between 2 groups. The differences on infection situation at different ages, personal lifestyle, diet and living environment were also compared. The treatment of flying personnel in positive group during their stay in the sanatorium was investigated and analyzed among different age groups.Results:A total of 347 flying personnel were included, with 161 in the positive group and 186 in the negative group. The HP infection rate in the rural population before joining the army was higher than that in the urban population, with a significant difference ( χ2=7.19, P=0.007). But there were no significant differences on whether they had long-term smoking history, preferred strong tea or coffee, spicy and fried food and whether their family members were infected ( χ2=0.05-5.92, all P>0.05). The questionnaire showed that the cognition of the negative group was significantly better than the positive group on whether they understood the infection route, symptoms and preventive measures of HP ( χ2=8.28, 12.00, 48.22, P=0.005, 0.001,<0.001), but there was no difference between 2 groups on whether they had known HP, detection methods and treatment after infection ( P>0.05). The treatment rate in positive group was only 29.19% (47/161), and there was no significant difference in the treatment rate among different age groups ( P>0.05). Conclusions:There is a high HP infection rate in flying personnel on base of the survey. The poor awareness of HP would affect the treatment rate and the basic cognition would be beneficial to active prevention. The survey also shows that the environment factors are seemed more sensitive to HP than dietary habit.

Objective:To investigate the infection and treatment of helicobacter pylori (HP) in flying personnel, as well as their cognition of HP.Methods:By using cluster sampling method, the flying personnel who recuperated at the Second Sanatorium of Air Force Healthcare Center for Special Services Hangzhou were selected for questionnaire survey. They were divided into positive group and negative group according to whether they were infected with HP. The cognition of HP (such as whether they had known HP, how to detect HP, and the symptoms, infection route, as well as the knowledge on treatment and prevention of HP) were compared between 2 groups. The differences on infection situation at different ages, personal lifestyle, diet and living environment were also compared. The treatment of flying personnel in positive group during their stay in the sanatorium was investigated and analyzed among different age groups.Results:A total of 347 flying personnel were included, with 161 in the positive group and 186 in the negative group. The HP infection rate in the rural population before joining the army was higher than that in the urban population, with a significant difference ( χ2=7.19, P=0.007). But there were no significant differences on whether they had long-term smoking history, preferred strong tea or coffee, spicy and fried food and whether their family members were infected ( χ2=0.05-5.92, all P>0.05). The questionnaire showed that the cognition of the negative group was significantly better than the positive group on whether they understood the infection route, symptoms and preventive measures of HP ( χ2=8.28, 12.00, 48.22, P=0.005, 0.001,<0.001), but there was no difference between 2 groups on whether they had known HP, detection methods and treatment after infection ( P>0.05). The treatment rate in positive group was only 29.19% (47/161), and there was no significant difference in the treatment rate among different age groups ( P>0.05). Conclusions:There is a high HP infection rate in flying personnel on base of the survey. The poor awareness of HP would affect the treatment rate and the basic cognition would be beneficial to active prevention. The survey also shows that the environment factors are seemed more sensitive to HP than dietary habit.

The present study aims to investigate the impact of hydrogen-rich water on the lactic acid level in metformin-treated diabetic rats under hypoxia. Thirty Sprague–Dawley rats were randomly divided into five groups, including normal diet group, and diabetes model (DM) group, DM + metformin treatment (DMM) group, DMM + hypoxia treatment (DMMH) group and DMMH + hydrogenrich water (DMMHR) group. We found that the levels of lactic acid, pyruvate and lactate dehydrogenase were significantly lower in the blood of DMMHR group than DMMH group. Superoxide dismutase and glutathione levels in liver and heart were significantly higher in DMMH group after hydrogen-rich water treatment, while malondialdehyde and oxidized glutathione levels were decreased in DMMHR group when compared with DMMH group, which indicates that hydrogen-rich water could reduce oxidative stress. qPCR analysis demonstrated that that pro-apoptotic genes Bax/Caspase-3 were upregulated in DM group and metformin treatment suppressed their upregulation (DMM group). However, hypoxic condition reversed the effect of metformin on apoptotic gene expression, and hydrogen-rich water showed little effect on these genes under hypoxia. HE staining showed that hydrogen-rich water prevented myocardial fiber damages under hypoxia. In summary, we conclude that hydrogen-rich water could prevent lactate accumulation and reduce oxidant stress in diabetic rat model to prevent hypoxia-induced damages. It could be served as a potential agent for diabetes patients with metformin treatment to prevent lactic acidosis and reduce myocardial damages under hypoxic conditions.

Objective: To investigate the effect of macrophage-capping protein (CapG) on migration and proliferation of human gastric cancer cell line.Methods: Real-time PCR method was used to detect the expression of CapG gene in four gastric cancer cell lines, and AGS cells with low expression and transfection were selected as the research objects.Specific primers were designed for CapG and recombinant plasmids synthesized.A lentivirus packaging system which could express CapG was constructed, and a cell line stably expressing CapG was established by infecting human gastric cancer cell line AGS cells.The effect of overexpression of CapG gene on the growth and proliferation of AGS cells was analyzed by CCK8 assay.Cells cratch and Transwell assay were used to analyze the effect of overexpression of CapG gene on AGS cell migration.Results: After the overexpression of CapG, the growth rate of AGS cells was slightly lower than that of the control group, but there was no significant difference between the two groups (t=2.424, P=0.073).Scratch test showed that the average narrowing distance of the scratches in the CapG experimental group was significantly reduced compared with the control group, the average narrowing distance of the CapG experimental group and the control group was 336.99 μm and 45.54 μm, the difference was statistically significant (t=14.97, P=0.004).The average number of cell penetra-ting membrane in the CapG experimental group and the eGFP control group was 176 and 70, the number of the cells in the CapG experimental group was significantly higher than that of the control group (t=40.00, P<0.001).Conclusion: The overexpression of CapG gene has no significant effect on the growth and proliferation of AGS cells of gastric cancer cell line.Overexpression of CapG gene can promote the migration of AGS cells of gastric cancer cell lines.

Objective To investigate the effects of diversified health education in screening of preemy retinopathy. Methods One hundred and eighty preterm newborns were collected and randomly divided into control group and observation group on average. The diversified health education was adopted in observation group and conventional health education was adopted in control group. The disease cognition and satisfaction questionnaire investigated in the parents of preemys, and compared after 6 months′ intervention. Results After diversified health education, the rate of mastering knowledge of disease from parents in the observation group was higher than that in control group (95. 6% vs 80. 0% ) while the degree of satisfaction from parents in observation group was higher than that of the control group (90. 0% vs 71. 1% ) ( χ2 = 8. 751, 14. 754;P < 0. 05). Conclusions The development of diversified health education can effectively improve the disease cognition and the degree of satisfaction from parents. It can also enhance the consciousness of ROP screening of the parents and play an active role in ROP prevention.

Objective To investigate the expression level and promoter methylation of SOX17 gene and the clinical correlations in Chinese patients with chronic myeloid leukemia ( CML ) . Methods The levels of SOX17 expression and methylation were detected by RQ-PCR and RQ-MSP. Results SOX17 expression level was significantly lower in CML compared with 30 controls (P=0.001). The area under the receiver operating characteristic (ROC) curve (AUC) was 0.748 to differentiate CML from control (P=0.001). There was a trend of correlation between SOX17 expression and bcr/abl transcript (r = 0.439,P = 0.068) in CML patients. Hypermethylation of SOX17 promoter was detected in 3 (4%) CML patients, however, there was no difference as compared with 32 controls. In our study, SOX17 hypermethylation was not corrected with its expression. Conclusion Decreased SOX17 expression is a common molecular event in CML and may be considered as an available biomarker to diagnose CML. Dysregulated SOX17 is not caused by promoter hypermethylation in CML.

Infectious disease hospitals are obliged to cope with public health emergencies such as outbreak of infectious diseases.Such hospitals are required to make early detection,early containment,proper management,reasonable preplans,timely training,targeted drills,reasonable deployment of hospital resources,appropriate protection for hospital staff.General hospitals should also cope with prevention and control of infectious diseases to some extent,and work with infectious disease hospitals hand in hand to better cope with such outbreaks.

Objective To investigate smoking status,knowledge of smoking hazards,attitude of tobacco control and skill of assisting smoking cessation of the staff in a teaching hospital in Chongqing and to provide references for the further construction of‘smoking-free hospital’. Methods General investi-gation was taken on the staff in a teaching hospital in Chongqing with a self-designed questionnaire. Main contents of questionnaire include:social demographic information,smoking status,awareness of tobacco hazard,willingness and methods of tobacco control,etc. All the data were inputted with software Epidata 3.1 and were analyzed with SPSS 13.0. Results The total smoking rate was 9.65%,with 30.49%for male, 2.75%for female and 12.50%for clinician. The age distribution of smoking staff was described as follow-ing:91.97% being under 50 year-old and more than 50.00% being 20-35 year-old. 52.43% of the surveyed did not know Framework Convention of Tobacco Control of WHO . Relatively ,most of the surveyed only knew well the relationship between respiratory diseases and tobacco use and the relation-ship between fetal abnormalities and tobacco use. 84.99%of the surveyed agreed with outdoor-smoking policy;83.56%of the surveyed claimed that they had discouraged smoking behaviors in public at various extents,14.20%of the surveyed agreed that assisting the public in smoking cessation was one of the aims of constructing‘smoking-free hospital’;70.00%clinicians claimed routinely inquiring and noting smok-ing status of patients, which was better than nurses and medical technicians;almost 30.00%clinic staff did not know quitting smoking drugs at all,approximately 70.00%clinic staff claimed a lack of confidence in smoking control and approximately 70.00% clinicians and nurses did not recommend pro-fessional methods of smoking cessation in practice. Conclusions Smoking staff in the teaching hospital are almost younger people,which is an alarm of the urgent need for tobacco control education. Most staff reach a consensus on keeping smoking-free environment in hospital,but they do not sufficiently acknowledge their social responsibility for tobacco control,and also there is a distance before they can serve as a smok-ing cessation assistant. Tobacco control must be incorporated in long-term mechanism of hospital con-struction. There are three steps in the construction of smoking-free hospital:①creating a smoking-free en-vironment in hospital;②encouraging patients to quit smoking and providing professional service of smoking cessation;③making a positive effort on social tobacco control and advocating smoking cessation in public.

Objective To study the cell immunity and eytokines responses to avian influenza A H5N1 virus infections in a BALB/c model to better understand the pathogenesis of H5N1 avian influenza disease. Methods Two hundred and twenty BALB/c mice of the infected group were inoculated with 0.1 ml (10-4.875 TCID50) of A/Goose/Guangdong/NH/2003 ( H5N1 ) virus intra-nasally. Fifty control mice received noninfectious allantoic fluid and another fifty control mice received normal sodium. Blood and spleen samples were collected from the live mice every 24 h during the 14 d post-infection. The changes of CD3 + T cells , CD4 + T cells, CD8 + T cells for cell immunity in blood circulation and spleen were detected by flow cytometry. And the cytokines and antibody responses in blood circulation were detected by ELISA. Necropsy was performed on mice that died during the experiment and those euthanized at end of study. Results Avian influenza A( H5N1) virus infections can make damages to the cell immune system transiently. The CD3 + T cells, CD4 + T cells, CDS + T cells declined at 24 days post infection in blood circulation and declined at 5-8 days in spleen, then recovered to the normal level gradually. The eytokines responses to the infections can be detected: the level of IFN-γ,TNF-α declined, IL-4, IL-18, IL-10 increased, and IL-2 changed little. The antibody increased rapidly from day 7 post infection until the end of the study (day 14 post infection). Conclusion Collectively, avian influenza A(H5N1) virus can cause cell immunity deficiency and an imbalance in the level of eytokines, which may contribute to the unusual severity of disease caused by the H5N1 avian influenza virus.