[A Family with Congenital Dysfibrinogenemia and Blood Transfusion].

OBJECTIVE: To investigate a family with congenital dysfibrinogenemia, and analyze the risk of hemorrhage and thrombosis and blood transfusion strategies. METHODS: Prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time (TT) of the proband and her family members were detected by automatic coagulometer, fibrinogen (Fg) activity and antigen were detected by Clauss method and PT algorithm respectively. Meanwhile, thromboelastometry was analyzed for proband and her family members. Then, peripheral blood samples of the proband and her family members were collected, and all exons of FGA, FGB and FGG and their flanks were amplified by PCR and sequenced to search for gene mutations. RESULTS: The proband had normal APTT and PT, slightly prolonged TT, reduced level of Fg activity (Clauss method). The Fg of the proband's aunt, son and daughter all decreased to varying degrees. The results of thromboelastogram indicated that Fg function of the proband and her family members (except her son) was basically normal. Gene analysis showed that there were 6233 G/A (p.AαArg35His) heterozygous mutations in exon 2 of FGA gene in the proband, her children and aunt. In addition, 2 polymorphic loci were found in the family, they were FGA gene g.9308A/G (p.AαThr331Ala) and FGB gene g.12628G/A (p.BßArg478Iys) polymorphism, respectively. The proband was injected with 10 units of cryoprecipitate 2 hours before delivery to prevent bleeding, and no obvious bleeding occurred during and after delivery. CONCLUSION: Heterozygous mutation of 6233G/A (p.AαArg35His) of FGA gene is the biogenetic basis of the disease in this family with congenital dysfibrinogenemia.

Predictive Values of the Selected Inflammatory Indexes in Colon Cancer.

PURPOSE: Ample evidence has revealed that the lymphocyte-to-monocyte ratio (LMR), albumin-to-globulin ratio (AGR), and mean platelet volume (MPV) are cancer-related inflammatory markers. The present study aimed to combine these indicators to better assess the progression of colon cancer. METHODS: This retrospective study enrolled 251 patients with colon cancer, 171 patients with benign colon diseases, and 187 healthy control subjects. The receiver operating characteristic curve and area under the curve (AUC) were used to determine the diagnostic values of the selected inflammatory index. RESULTS: The levels of LMR, AGR, and MPV were decreased in the colon cancer group compared with the healthy control and benign colon disease groups. The LMR, AGR, and MPV were all correlated with tumor size. Moreover, LMR and AGR was associated with lymph node metastasis and clinical stage, AGR was related to distant metastasis. Both the LMR (P = .030) and AGR (P = .005) were negatively correlated with the concentration of carcinoembryonic antigen (CEA). The AUC value of MPV combined with CEA had a good diagnostic ability for distinguishing colon cancer cases (AUC = .950) and patients with benign colon diseases (AUC = .886) from controls. Meanwhile, the combination of LMR or AGR with CEA could enhance larger AUC (.746 for LMR + CEA, .737 for AGR + CEA) than CEA, LMR, or AGR alone in detecting colon cancer from benign colon diseases. CONCLUSIONS: CEA combined with the LMR, AGR, or MPV may be used as better blood-based biomarkers in the progression of colon cancer patients.

Association of polymorphisms in PIN1 with progression and susceptibility in gastric cancer.

Background: High expression of PIN1 is associated with gastric cancer progression and risk. Patients & methods: Two single-nucleotide polymorphisms in PIN1, rs2233678 and rs2233679, were examined in gastric cancer patients using PCR-restriction fragment length polymorphism. Results: The rs2233678 GC genotype and C alleles correlated with a decreased susceptibility to gastric cancer. The stratification analysis indicated that the rs2233678 GC genotype was inversely related to gastric cancer risk in never smokers, never drinkers and patients with stage I/II disease. Males and ever drinkers carrying the rs2233679 CT genotype had a mildly elevated susceptibility to gastric cancer. Conclusion: The PIN1 single-nucelotide polymorphisms rs2233678 and rs2233679 correlate with the risk of gastric cancer.

PIN1 is associated with gastric cancer progression and risk. Genetic polymorphisms, the most common type of genetic variation, are important in cancer susceptibility. Hence we examined the relationship between two single-nucleotide polymorphisms (rs2233678 and rs2233679) in PIN1 and gastric cancer patients. We found that the rs2233678 GC genotype and C alleles correlated with a decreased susceptibility to gastric cancer, and the stratification analysis indicated that the rs2233678 GC genotype was inversely related to gastric cancer risk in never smokers, never drinkers and patients with stage I/II disease. Males and ever drinkers carrying the rs2233679 CT genotype had a mildly elevated susceptibility to gastric cancer. The PIN1 polymorphisms rs2233678 and rs2233679 may be associated with gastric cancer risk.

Diagnostic Value of Albumin to Fibrinogen Ratio in Cervical Cancer.

BACKGROUND: Albumin to fibrinogen ratio (AFR) play a crucial role in the progression and prognosis of many malignant tumors. This study aimed to comprehensively assess the diagnostic value of AFR as single markers or in combination with squamous cell carcinoma antigen (SCC-Ag), cancer antigen 125 (CA-125) in cervical cancer. METHODS: A total of 323 cervical cancer inpatients, 143 patients with cervical intraepithelial neoplasia (CIN) and 317 healthy controls were analyzed. Differences in laboratory parameters and clinicopathological features were calculated using the Mann-Whitney U or Kruskal-Wallis H test. The receiver operating characteristic (ROC) curve was used to evaluate the predicted value of AFR, alone or combined with SCC-Ag, CA-125 for the diagnosis of cervical cancer. RESULTS: The levels of AFR in patients with cervical cancer were significantly lower than those in the CIN patients and the control subjects. AFR were not only negatively correlated with the tumor stage, but also related to histology typing, lymph node metastasis, distant metastasis, depth of stromal infiltration, tumor size, and tumor stage; however, it was not associated with the blood group. AFR combined with SCC-Ag possessed a larger area under the curve (AUC; AUCAFR+SCC-Ag = 0.924, 95% confidence interval (CI) 0.900, 0.944) than AFR (P < 0.001), SCC-Ag (P < 0.001), or CA-125 (P < 0.001) did alone. CONCLUSIONS: The pretreatment levels of AFR, alone or combined with SCC-Ag, CA-125 could improve the diagnostic efficiency of cervical cancer.

Diagnostic value of fibrinogen to prealbumin ratio and gamma-glutamyl transpeptidase to platelet ratio in the progression of AFP-negative hepatocellular carcinoma.

BACKGROUND: This study aimed to comprehensively assess the diagnostic value of fibrinogen to prealbumin ratio (FPR) and gamma-glutamyl transpeptidase to platelet ratio (GPR) as single markers or in combination in patients with alpha-fetoprotein-negative (AFP-negative) hepatocellular carcinoma (HCC). METHODS: A total of 199 healthy controls and 515 AFP-negative patients were enrolled in this study, including 180 HCC inpatients, 151 liver cirrhosis (LC) patients, and 184 chronic hepatitis (CH) cases. Mann-Whitney U or Kruskal-Wallis H test were used to analyze differences between groups in laboratory parameters and clinicopathological features. The diagnostic value of FPR and GPR, alone or in combination, in AFP-negative HCC (AFP-NHCC) patients was determined via a receiver operating characteristic (ROC) curve. RESULTS: The levels of FPR and GPR were gradually increased in the development of AFP-NHCC and positively correlated with the tumor size and Barcelona Clinic Liver Cancer (BCLC) stages. Moreover, GPR was associated with Edmondson-Steiner grades. After univariate logistic regression analysis, FPR and GPR remained independent predictors of adverse outcomes. The combination of FPR and GPR had a good ability to detect AFP-NHCC from the control group (area under curve [AUC] = 0.977), AFP-negative CH (AUC = 0.745), and AFP-negative LC (AUC = 0.666). FPR combined with GPR possessed a larger area (0.943, 0.971) and sensitivity (87.50%, 89.81%) than FPR or GPR alone for differentiating AFP-NHCC with tumor size < 3 cm or at the BCLC-A stage. CONCLUSIONS: The pretreatment levels of FPR and GPR played vital roles in the development of AFP-NHCC, especially in patients with early or small AFP-NHCC.

The association between PIN1 genetic polymorphisms and the risk of chronic hepatitis B and hepatitis B virus-related liver cirrhosis: A case-control study.

Peptidyl-prolyl cis/trans isomerase NIMA-interacting 1 (PIN1) reportedly plays a crucial role in tissue inflammation and tumourigenesis. Our previous studies have demonstrated that PIN1 gene polymorphisms are significantly related to the pathogenesis of hepatitis B virus (HBV)-related liver cancer in a Guangxi population. As chronic hepatitis B (CHB), liver cirrhosis (LC), and liver cancer are development processes, we further investigated whether any relationship exists between PIN1 gene polymorphisms and the risk of CHB and HBV-related LC. We used the polymerase chain reaction restriction fragment length polymorphism and the deoxyribonucleic acid sequencing method to analyze 3 common single-nucleotide polymorphisms (SNPs) (rs2233678, rs2233679, and rs2233682) of the PIN1 gene in 192 CHB patients, 171 HBV-related LC patients, and 201 healthy controls in this research. The results revealed that carriers of the rs2233682 A allele had a significantly decreased risk of HBV-related LC (LC vs. controls: odds ratio [OR] = 0.262, 95% confidence interval [CI] = 0.071-0.959, P = .043; LC vs. CHB: OR = 0.198, 95% CI = 0.049-0.803, P = .023). Similar relationships were observed for the PIN1 rs2233682 GA genotype among the groups (LC vs. controls: OR = 0.248, 95% CI = 0.067-0.919, P = .037; LC vs. CHB: OR = 0.184, 95% CI = 0.044-0.773, P = .021). This reduced risk was more obvious in older CHB patients (age ≥50 years). No such correlations were found for PIN1 rs2233678 and rs2233679. However, the haplotypes constructed from these SNP (GCA for controls and CCG for CHB) were associated with a significantly decreased risk of HBV-related LC. In summary, the findings of this study suggest that the PIN1 rs2233682 A allele might be related with a decreased risk of HBV-related LC in a Guangxi population.

PIN1 genetic polymorphisms and the susceptibility of HBV-related hepatocellular carcinoma in a Guangxi population.

Peptidyl-prolyl cis/trans isomerase NIMA-interacting 1 (PIN1) plays a critical role in different signaling pathways, cell cycle progression and proliferation, and gene expression, and it has been found to overexpress in many tumor tissues. Recently, researchers have found that PIN1 gene polymorphisms may alter the function of protein and be associated with the risk of cancer. The present study analyzed three common polymorphisms in promoter regions (rs2233678 and rs2233679) and in exon2 (rs2233682) of the PIN1 gene in 254 patients with hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC) and 235 healthy controls in a Guangxi study population to determine whether any relationship exists between the polymorphisms and the risk of HBV-related HCC. The results revealed that the rs2233679 TT genotype was associated with increased risk of HCC with HBV infection [odds ratio (OR) = 2.04, 95 % confidence interval (95 % CI) = 1.13-3.69, p = 0.019]. This association was stronger in men than in women (OR = 2.17, 95 % CI = 1.09-4.34, p = 0.028) as well as in men 50 years of age and older (OR = 3.91, 95 % CI = 1.29-11.80, p = 0.016); moreover, for alcohol drinkers, being a carrier of the PIN1 rs2233679 CT genotype had a moderately increased risk of HCC (OR = 3.98, 95 % CI = 1.02-15.57, p = 0.047). In contrast, people carrying the rs2233682 GA genotype and A alleles were 0.23 times more likely to develop HCC (OR = 0.23, 95 % CI = 0.06-0.87, p = 0.031 and OR = 0.23, 95 % CI = 0.06-0.87, p = 0.030). No such associations were found in the PIN1 rs2233678 polymorphisms between the HBV-related HCC cases and the controls. In addition, the haplotype GCA was found to be a high protection factor for HCC with HBV infection (OR = 0.14, 95 % CI = 0.03-0.62, p = 0.003). In conclusion, this study's findings suggest that the PIN1 rs2233679 TT genotype, the rs2233682GA genotype, and A alleles might be associated with the HBV-related HCC in a Guangxi study population.

Rare blood donors screening by multiplex PCR methods in Chinese Zhuang and Dong population and pedigree analysis.

There are little data available regarding the frequencies of the blood group antigens other than ABO and RhD in the Chinese Zhuang and Dong population. Knowledge of the antigen frequencies is important to assess risk of antibody formation and to guide the probability of finding antigen-negative donor blood, which is especially useful when blood is required for a patient who has multiple red cell alloantibodies. The aim of this study is sought to massively screen for rare blood donors with antigen-negative (e.g. Fy (a-), s-, k-, Di (b-) and Js (b-)) in an ethnic Zhuang and Dong population of China, for providing precious rare blood type materials which can be used to improve the capability of compatible infusion and reduce the transfusion reactions. Finally, inheritance of the Fy (a-), s-, k-, Di (b-) and Js (b-) phenotypes was investigated by pedigree analysis. We screened for Fy (a-), s-, k-, Di (b-) and Js (b-) phenotypes in blood donors by multiplex polymerase chain reaction. The rare phenotypes Fy (a-), s-, k-, Di (b-) and Js (b-) were verified by flow cytometry and sequencing analysis. The results indicated that there are five Fy (a-), three s (-), two Di (b-) in 4490 Zhuang random samples and three Fy (a-) in 1927 Dong random samples. In conclusion, this study is the first small step to create a rare donor data bank for Chinese Zhuang and Dong population and to prepare antigen negative compatible blood to patients with multiple alloantibodies.

[Application of multiplex PCR for the screening of genotyping system for the rare blood groups Fy(a-), s-,k-,Di(b-) and Js(b-)].

OBJECTIVE: To screen rare blood groups Fy(a-), s-, k-, Di(b-) and Js(b-) in an ethnic Zhuang population. METHODS: Sequence-specific primers were designed based on single nucleotide polymorphism (SNP) sites of blood group antigens Fy(b) and s. A specific multiplex PCR system I was established. Multiplex PCR system II was applied to detect alleles antigens Di(b), k, Js(b)1910 and Js(b) 2019 at the same time. The two systems was were used to screen for rare blood group antigens in 4490 randomly selected healthy donors of Guangxi Zhuang ethnic origin. RESULTS: We successfully made the multiplex PCR system I. We detected the rare blood group antigens using the two PCR system. There are five Fy(a-), three s(-), two Di(b-) in 4490 Guangxi zhuang random samples. The multiplex PCR system I has achieved good accuracy and stability. With multiplex PCR systems I and II, 4490 samples were screened. Five Fy(a-), three s(-) and two Di(b-) samples were discovered. CONCLUSION: Multiplex PCR is an effective methods, which can be used for high throughput screening of rare blood groups. The rare blood types of Guangxi Zhuang ethnic origin obtained through the screening can provide valuable information for compatible blood transfusion. Through screening we obtained precious rare blood type materials which can be used to improve the capability of compatible infusion and reduce the transfusion reactions.

Reference values for serum antistreptolysin O in Chinese adult men from a Chinese male population survey.

BACKGROUND: Numerous diseases come from streptococcal infection. The antistreptolysin O (ASO) test is the most widely used serological test for streptococcal infection applied for the clinical diagnosis. The aim of this study was to establish reference values for serum ASO in Han and Zhuang Chinese from a Chinese male population survey. METHODS: A cross-sectional study in which 1,762 serum samples were collected between September 2009 and December 2009 from Chinese men aged 20 to 69 years. The reference values for serum ASO were measured with the immunonephelometric method on the Hitachi 7600 autoanalyzer. RESULTS: Serum ASO values were not normally distributed but log normally distributed. The reference value was < or = 125.00 IU/mL for serum ASO. A significant decrease with age was found, and age-dependent reference values were calculated for serum ASO levels. The Zhuang and Han groups (p < 10(-3)) exhibited differences in serum ASO. There was no significant difference according to smoking (p = 0.718) and drinking (p = 0.388) in Zhuang. However, there was a significant difference between smoking and non-smoking (p < 10(-3)) in the Han ethnic group, whereas there was no significant difference between the non-drinking and drinking groups (p = 0.245). CONCLUSIONS: The reference values for serum ASO for healthy adult men showed a huge deviation compared to the currently used reference value (200 IU/mL). Thus, the reference values for serum ASO should be established for different ethnic groups and regions.