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 association between ambulatory arterial stiffness index (AASI) and renal poor prognosis in patients with chronic kidney disease (CKD).Methods:A prospective study was conducted to enroll 117 non-dialysis patients with CKD who volunteered for receiving ambulatory blood pressure monitoring test from December 2017 to December 2018 in the Department of Nephropathy of the First Medical Center of Chinese PLA General Hospital. According to the AASI tertiles, patients were divided into low AASI group (≤0.414, n=38), medium AASI group (0.414-0.517, n=40), and high AASI group (≥0.517, n=39). The differences of clinical baseline information among the three groups were compared. The follow-up time was until August 2020. Kaplan-Meier curve and Cox proportional hazard regression model were used to explore the effect of AASI on renal poor prognosis. Results:The median age of 117 patients was 61(49, 65) years old. There were 80 males (68.4%) and patients with hypertension accounted for 77.8%(91 cases). After a median follow-up of 27 months, 34 cases had composite endpoint events [renal replacement therapy (dialysis or kidney transplantation), 40% estimated glomerular filtration rate (eGFR) decline, and death], of which 10 patients were on dialysis, 19 patients had 40% eGFR decline, and 5 patients died. There were significant differences in age, hemoglobin, body mass index, eGFR, 24 h systolic blood pressure (SBP), daytime SBP, nighttime SBP, morning SBP, 24 h mean arterial pressure and 24 h pulse pressure among the three groups (all P<0.05). Kaplan-Meier survival analysis indicated that higher AASI was associated with lower cumulative survival rate in patients (Log-rank test χ2=13.111, P=0.001). Univariate Cox regression analysis showed that high AASI was an influencing factor for renal endpoint events ( P<0.05), and after adjusting for age, gender, mean arterial pressure, eGFR, 24 h urine protein, diabetes and body mass index, high AASI was an independent influencing factor for renal poor prognosis in classification and continuous variable analysis models ( HR=2.88, 95% CI 1.00-8.26, P=0.050; HR=1.50, 95% CI 1.02-2.21, P=0.039). Conclusion:High AASI is an independent influencing factor for renal poor prognosis in CKD patients.

President Xi presented an important address in the National Health and Wellness Conference and the high strategic priority for promoting people's health in China was emphasized. Thereafter, a number of documents of state policy on health and wellness were issued successively. These documents covered important contents on oral health, which had great significance as a milestone. This article reviewed the documentation process and analyzed the key points on oral health. The release of these series of government documents had provided policy support for integrating oral health into significant health policies, building the first barrier for oral health, preventing and treating oral diseases based on strategies for common risk factors, adopting strategies to combine both the whole population and high-risk groups, and developing health-centered oral massive health industry, etc.

Objective:To evaluate the effects of magnetron-sputtered ZrSiN/ZrO2 gradient coating on the bonding strength of commercially pure titanium to porcelain.Methods:50 cast titanium specimens were prepared according to the ISO 9693 standard,and divided into 2 groups(n =25).The ZrSiN/ZrO2 gradient coating was deposited on specimens by magnetron sputtering technique,and subsequently a low-fusing porcelain was applied for the samples in the expermental group,the samples in the control group were treated by surface sandblasting.The roughness and surface energy of the samples were measured(n =10).The bonding strength of titanium-porcelain specimens was analyzed by three-point bending test (n =10).Scanning electron microscopy (SEM) and energy-dispersive X-ray analysis (EDS) were employed to examine the properties of the delaminated and cross-sectioned surfaces.The results were analyzed by paired t-test (α =0.05) with SPSS 1 1.0 software.Results:The roughness of the experimantal group was lower(P ＜ 0.05) and the contact angle was larger(P ＜ 0.05) than those in the control group.The titanium-porcelain bond strength of gradient-coated group was greater than that of control group(P ＜0.05).The SEM and EDS examination results of delaminated and cross-sectioned surfaces also indicated that the gradient-coated group showed more porcelain residues.Conclusion:The bonding strength of porcelain-fused-to-titanium can be improved by magnetron sputtered ZrSiN/ZrO2 gradient coating.

OBJECTIVE: To investigate the correlation between Helicobacter pylori (H. Pylori) infection and polymorphism of adiponectin gene promoter -11391G/A, extracellular superoxide dismutase (EC-SOD) gene in nonalcoholic fatty liver disease (NAFLD).
 METHODS: From June, 2010 to July, 2014, a hospital-based 1:1 matched case-control study was carried out, with 600 cases of NAFLD and 600 healthy people in the First Affiliated Hospital of Xinxiang Medical University. The genetic polymorphisms of adiponectin gene promoter -11391G/A and EC-SOD were analyzed by polymorphism-polymerase chain reaction (PCR) technique in peripheral blood leukocytes of the subjects. 14C-urea breath test (14C-UBT) was used to test 14C disntegration per minute (DPM) for evaluating the infections status of H. Pylori. The synergistic effect between the two mutants and the gene-environment interaction of the genotypes with H. Pylori infection were analyzed.
 RESULTS: The frequencies of -11391G/A (AA) and EC-SOD (CG+GG) were 50.67% and 50.33% in NAFLD cases, 23.83% and 24.17% in healthy controls, respectively. Statistical tests showed significantly higher frequencies of -11391G/A (AA) and EC-SOD (CG+GG) in the NAFLD group (-11391G/A: P=0.0051; EC-SOD: P=0.0057). The risk of NAFLD with -11391G/A (AA) was significantly higher than those with -11391G/A(GG+GA) (OR=3.2822, 95% CI 1.9170 to 5.2039). The individuals who carried EC-SOD (CG+GG) had a high risk of NAFLD (OR=3.1800, 95% CI 1.7974 to 5.2391). Combined analysis of the polymorphisms showed that percentage of -11391G/A (AA)/EC-SOD (CG+GG) in the NAFLD group was significantly higher than that in the control groups (25.50% vs 5.83%, P=0.0039). The people who carried with -11391G/A (AA)/EC-SOD (CG+GG) had a high risk of NAFLD (OR=10.3190, 95% CI 8.1869 to 20.5102). The H. Pylori infection rate in the NAFLD group was significantly higher than that in the control group (OR=3.1667, 95% CI 1.9139 to 5.7443, P=0.0062), and statistical analysis suggested a positive correlation between H. Pylori infection and NAFLD with -11391G/A (AA) and EC-SOD (CG+GG) (-11391G/A: γ=1.8532; EC-SOD: γ=1.7899).
 CONCLUSION These carriers of -11391G/A(AA) and EC-SOD (CG+GG) genotypes may have a high risk of NAFLD, and the gene genotypes can interact with H. Pylori infection in the pathogenesis of NAFLD. Therefore, effective prevention measures for NAFLD should consider eradicating H. Pylori or regulating gene expression.
Adiponectin ; genetics ; Case-Control Studies ; Gene-Environment Interaction ; Genotype ; Helicobacter Infections ; complications ; genetics ; Helicobacter pylori ; Humans ; Non-alcoholic Fatty Liver Disease ; complications ; genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Promoter Regions, Genetic ; Risk Factors ; Superoxide Dismutase ; genetics

OBJECTIVE: To investigate the interaction between polymorphism of Toll-like receptor 4 (TLR4) gene G11367C in 3' untranslated region (UTR) and inhibitor of nuclear factor kappaB (IκB)-α 
Hae III in acute pancreatitis (AP) and the degree of severity.
 METHODS: A total of 450 patients with confirmed AP (AP group), who came from the First Affiliated Hospital of Xinxiang Medical College from May 2013 to June 2015, were divided into a mild AP subgroup (MAP subgroup), a moderately severe AP (MSAP subgroup), and a severe acute AP (SAP subgroup) (n=150 in each group). One hundred fifty healthy persons were served as a control group. There was no significant difference in age, gender, ethnicity and birthplace among all groups. The genetic polymorphisms of TLR4 gene G11367C in 3' untranslated region and IκB-α Hae III were analyzed by polymerase chain reaction (PCR). Eligible participants were personally interviewed by a questionnaire. Unconditional logistic regression model and single factor analysis were performed to calculate the adjusted odds ratios (OR) and 95% confidence intervals (95% CI) of G11367C and IκB-α Hae III polymorphisms, respectively. The interaction of nucleotide polymorphisms was analyzed.
 RESULTS: The frequencies of G11367C (GC), IκB-α Hae III (AG) and IκB-α Hae III (GG) were 69.56%, 33.78% and 36.22% in the AP group; 49.33%, 24.67% and 26.00% in the MAP subgroup; 70.67%, 34.67% and 36.67% in the MSAP subgroup; 88.67%, 42.00% and 46.00% in the SAP subgroup and 26.67%, 14.00% and 14.67% in the control group, respectively. There was significant difference in the frequencies betweenc the AP group and the control group, or among each AP subgroup (all P<0.01). The risk of AP was significantly increased in the subjects with G11367C (GC) genotype (ORAP=6.2828, ORMAP=2.6776, ORMSAP=6.6250, ORSAP=21.5147), which was also increased in those with IκB-α Hae III (AG) genotype (ORAP=5.7369, ORMAP=2.5277, ORMSAP=6.1824, ORSAP=17.8572) and in those with IκB-α Hae III (GG) genotype (ORAP=5.8724, ORMAP=2.5902, ORMSAP=6.4027, ORSAP=18.9022). The combined analysis of the polymorphisms showed that the percentage of G11367C (GC)/ IκB-α Hae III (GG) in the AP group, the MAP subgroup, the MSAP subgroup, the SAP subgroup and the control groups was 26.44%, 12.67%, 26.00%, 40.67% and 4.00%, respectively, with significant difference in the frequency among all groups (all P<0.01). The people who carried with Pro12Ala (AA)/Pro198Leu (LL) had a high risk of AP (ORAP=30.1314, ORMAP=6.7612, ORMSAP=39.5000, ORSAP=401.5833), and the statistical analysis suggested a positive interaction between Pro12Ala (AA) and Pro198Leu (LL) in increasing the risk of AP (All γ>1). Similarly, there were also positive interactions in the pathogenesis of AP between G11367C (GC) and IκB-α Hae III (AG) (All γ>1). 
 CONCLUSION These carriers of G11367C(GC), IκB-α Hae III(AG) and IκB-α Hae III (GG) genotypes may have a high risk of AP occurency, and there are significant interactions between genetic polymorphisms of G11367C and IκB-α Hae III, which increaes the risk of the occurrence and development of AP.
3' Untranslated Regions ; Acute Disease ; Deoxyribonucleases, Type II Site-Specific ; Ethnic Groups ; Genetic Predisposition to Disease ; Genotype ; Humans ; I-kappa B Kinase ; Logistic Models ; NF-KappaB Inhibitor alpha ; Odds Ratio ; Pancreatitis ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Toll-Like Receptor 4

Objective:To investigate the defect types and reconstruction methods of maxillary defects. Methods:The database of 1 107 cases with maxillary defects in Peking University School and Hospital of Stomatology from January 1985 to December 2010 was established. There construction methods were re-viewed. The defect types were classified according to Brown classification system. Results: In the 1 107 cases, 1 104 cases could be classified according to Brown classification system. The most common type was 2a with 559 cases (50. 6%). Among all the 1 107 cases, 349 cases were reconstructed with auto-transplantation, 443 cases with prosthesis, 107 cases untreated, and 208 patients lost to the follow-up. There was a significant growing trend over time for the application of free flaps and a downward trend of prosthesis. The most popular free flaps were fibular flap (88 cases) and radial forearm flap (75 cases) . Rectus abdominis flap and anterolatreal thigh flap were fit for extensive maxillary defects. Conclusion:The most common defect type is 2a. Free flap has become the dominant option for maxillary reconstruc-tion. Free flaps could be selected according to the maxillary defect types.

Objective To investigate the relationship of the interaction between age and polymorphisms of E-selectin gene A561C, chemokine receptor CCR2 gene A190G with the susceptibility, invasion and metastasis of gastric carcinoma.Methods Based on tumor-node-metastasis (TNM) staging classification, 750 patients with confirmed gastric carcinoma in our hospital from December 2011 to November 2014 were divided into 5 groups: stage Ⅰ, stage Ⅱ , stage Ⅲ, stage Ⅳ and stage 0 (n=150, each).No significant difference was observed in gender, ethnicity, birthplace and living habits among the 5 groups.Meanwhile, 750 healthy controls were selected in this study during the same time, and there was no significant difference in gender, ethnicity and birthplace between the healthy controls and patients with gastric carcinoma.The genetic polymorphisms of E-selectin gene A561C and chemokine receptor CCR2 gene A190G were analyzed by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) in peripheral blood mononuclear cells (PBMs).Results The frequencies of CC (A561C) and GG (A190G) genotypes were 56.5％ and 56.8％ respectively in gastric carcinoma cases and 22.8％ and 23.1％ respectively in healthy controls, with statistically significant differences in the distribution frequencies between the two groups (P＜0.01 for all).The risk for gastric carcinoma significantly increased in subjects with CC (A561C) genotype (OR=4.4038, 95％CI=2.9421-7.2397) and in GG (190A/G) genotype (OR=4.3852, 95％ CI =2.8207-7.4942).Combined analysis of the polymorphisms showed that the distribution frequency of CC (A561C) genotype / GG (190A/G) genotype in gastric carcinoma cases and healthy controls was 46.4％ and 11.9％ respectively (P＜0.01).The positive interactions of age with CC (A561C) genotype and GG (190A/G) genotype for the risk of invasion and metastasis of gastric carcinoma were found (γ＞1 for both).The distribution frequencies of CC (A561C) genotype and GG (190A/G) genotype were 50.0％ and 50.0％ in stage Ⅰ , 63.4％ and 64.0％ in stage Ⅱ ,69.3％ and 69.3％ in stage Ⅲ, 76.7％ and 77.3％ in stage Ⅳ, and 23.3％ and 23.3％ in stage 0 respectively.Statistically significant differences were found in the distribution frequencies between stage 0 and the other 4 stages (P＜0.01 for all).The risks for the invasion and metastasis of gastric carcinoma were significantly increased in subjects with CC (A561C) genotype (ORⅠ-Ⅳ =3.2857-10.7959) and in those with GG (190A/G) genotype (ORⅠ-Ⅳ =3.2857-11.2101).Combined analysis of the polymorphisms showed that distribution frequency of CC (A561C) genotype / GG (190A/G) genotype had significant differences between the stage Ⅰ ～Ⅳ and stage 0 (39.3％, 53.3％, 59.3％,68.0％ vs.12.0％, P＜0.01).The proportion of elderly subjects were higher in Grade Ⅰ ～Ⅳ than in Grade 0 (51.3％, 62.7％, 70.0％, 75.3％ vs.26.7％, P＜0.01 for all).The risk for invasion and metastasis of gastric carcinoma was significantly increased in elderly patients (ORⅠ-Ⅳ =2.9001 ～8.3986).The positive interactions of age with CC (A561C) genotype and GG (190A/G) genotype for the risk of invasion and metastasis of gastric carcinoma were found (γ＞ 1 for All).Conclusions Age and E-selectin gene A561C (CC) and chemokine receptor CCR2 gene A190G (GG) are the risk factors for the invasion and metastasis of gastric carcinoma, and the interactions between age and genetic polymorphisms increase the risk of invasion and metastasis of gastric carcinoma.

Objective To compare the efficacy and side effects of split-dose Polyethylene glycol-electrolyte solution ( PEG ) with full-dose preparation in the elderly for colonoscopy, and to summary the experience of nursing care. Methods A total of 220 elderly undergoing colonoscopy were randomly divided into experimental group ( group A) and control group ( group B) , 110 cases in each group. Group A took half the dose of PEG (1. 5 L) at 5 PM on the day before colonoscopy and the remaining half (1. 5 L) were instructed to drink at 6 AM on the day of colonoscopy. Group B took all the PEG (3 L) at 6 AM on the day of colonoscopy. The quality of bowel cleansing was assessed according to the Boston bowel preparation scale ( BBPS) , and side effects ( nausea, vomiting, abdominal pain, fatigue and hunger ) and complication were also observed. In addition, the polyps and tumors of colon detection were compared within the two groups. Results The level of bowel preparation in group A was superior to group B [(6. 65 ± 1. 67) vs (6. 14 ± 1. 91, t =2. 097, P <0. 05)], however, the incidence of side effects such as nausea and vomiting, abdominal pain and bloating in group A were 14 cases, 34 cases and 22 cases less than those of group B (χ2 =4. 400,4. 111,4. 002,respectively;P<0. 05). The detection rate of colonic polyps and tumors in group A (37. 3%) were also higher than that of group B (24. 5%) (χ2 =4. 172, P<0. 05). Conclusions The use of a split-dose PEG for bowel preparation before colonoscopy significantly improved bowel preparation. Split-dose preparation is associated with a lower incidence of side effects, and higher detection rate of colonic polyps and tumors in the elderly.

OBJECTIVETo investigate the effect of different concentrations of fluoride on the expression of transforming growth factor-beta1 (TGF-beta1), and explore the mechanism of dental fluorosis.

METHODS40 Wistar rats were randomly divided into three groups, and supplied with low dose F(-)(60 mgxL(-1), 13 rats), high dose F(-)(120 mgxL(-1), 13 rats) and distilled water(control group, 14 rats) respectively. After 10 weeks, hematoxylin-eosin (HE) and immunohistochemistry staining were used to observe the changes of the ameloblasts and the expression of TGF-beta1 in rat incisors.

RESULTSThe fluoride groups showed typical symptoms of dental fluorosis. The surfaces of the rat teeth fed with fluoride appeared chalky color and cross striation on the enamel surface. The HE staining showed that the morphous of ameloblast were disarranged and cellular derangement, even appeared vacuolar change. TGF-beta1 were expressed both in ameloblast of the secretory and maturation stage, and also in stellate reticulum and stratum intermedium. The expression of TGF-beta1 in rat's ameloblasts in experiment group was significantly lower than that in the control group (P<0.01), yet low dose group and high dose group still had no significant difference (P>0.05).

CONCLUSIONBy inhibiting the expression of TGF-beta1 in ameloblast, fluoride interferes the normal signal transduction between epithelial and mesenchymal, and affect the differentiation and development of enamel, so leading to the occurrence of dental fluorosis.

Ameloblasts ; Animals ; Cell Differentiation ; Dental Enamel ; Fluorides ; Fluorosis, Dental ; Incisor ; Phosphates ; Rats ; Rats, Wistar ; Transforming Growth Factor beta1