1.Analysis of ABO allelic enhancement phenomenon in 20 cases with ABO*AW.37 allele
Xian HUANG ; Shuangyu LI ; Tongtong LI ; Lina WU ; Jinhui XIE ; Lei MA ; Jinghui CHONG ; Shiping AN
Chinese Journal of Blood Transfusion 2024;37(8):886-889
Objective To investigate the serological and molecular characteristics of twenty blood samples carrying ABO?AW.37 allele and to analyze ABO allelic enhancement.Methods The ABO phenotype of the twenty samples was de-termined by serological methods and the genotype of 1-7 ABO exons was analyzed by Sanger sequencing.Results Sequen-cing analysis showed that all twenty samples contained a c.940A>G(p.Lys314Glu)mutation of A allele,which was defined as ABO?AW.37.When ABO?AW.37 and B alleles were inherited simultaneously in 9 cases,in forward typing anti-A anti-bodies all agglutinated and the serological phenotype was Aw B.Among the 11 cases with ABO?AW.37 and O alleles inherited simultaneously,there was no agglutination of anti-A in forward typing.For absorption and elution tests,5 cases were weakly positive and the serological phenotype was Ael,while 6 cases were negative for absorption and elution tests and the serologi-cal phenotype was O type.Conclusion Allelic enhancement occured when both ABO?AW.37 allele and B allele were in-herited simultaneously.When ABO? AW.37 was inherited simultaneously with O allele,the serological phenotype was Aelor O type and attention should be paid to blood type identification.
2.Two cases of ABO blood group gene damage caused by disease with a family survey
Li′na WU ; Ying ZHAO ; Lei MA ; Shuangyu LI ; Shiping AN ; Jinghui CHONG ; Xian HUANG ; Yang YANG ; Jinhui XIE
Chinese Journal of Laboratory Medicine 2024;47(12):1477-1480
Proband 1, female, 51 years old, with no history of blood transfusion and history of pregnancy, was in acute phase of chronic myelogenous leukemia; Proband 2, male, 53 years old, with no history of blood transfusion, was a patient with liver cancer. Probands 1 and 2 showed mixed appearance with forward typing in routine ABO blood group identification, and the hospital sent samples to our blood center for further identification. The experiment found that proband 1' s forward type was A with mixed appearance, while its reverse type was A, and proband 2' s foward type was B with mixed appearance, while its reverse type was B. Two probands were tested with short tandem repeat (STR) to exclude the mixed appearance image caused by chimera. ABO blood group identification was performed on Proband 1's parents. Subsequently, exon 1-7 of ABO gene was sequenced in two probands, and the results showed that probands 1 and 2 were O01/O01, which was inconsistent with the serological results. Primers were designed for ABO blood group gene A102 specific site 467 and B101 specific site 526, and the A102 and B101 alleles damaged by diseases were detected in proband 1 and proband 2. It is speculated that the reason for the inconsistency between ABO blood group serology and gene sequencing results may be the loss of heterozygosity (LOH) of ABO blood group genes caused by diseases.
3.Two cases of ABO blood group gene damage caused by disease with a family survey
Li′na WU ; Ying ZHAO ; Lei MA ; Shuangyu LI ; Shiping AN ; Jinghui CHONG ; Xian HUANG ; Yang YANG ; Jinhui XIE
Chinese Journal of Laboratory Medicine 2024;47(12):1477-1480
Proband 1, female, 51 years old, with no history of blood transfusion and history of pregnancy, was in acute phase of chronic myelogenous leukemia; Proband 2, male, 53 years old, with no history of blood transfusion, was a patient with liver cancer. Probands 1 and 2 showed mixed appearance with forward typing in routine ABO blood group identification, and the hospital sent samples to our blood center for further identification. The experiment found that proband 1' s forward type was A with mixed appearance, while its reverse type was A, and proband 2' s foward type was B with mixed appearance, while its reverse type was B. Two probands were tested with short tandem repeat (STR) to exclude the mixed appearance image caused by chimera. ABO blood group identification was performed on Proband 1's parents. Subsequently, exon 1-7 of ABO gene was sequenced in two probands, and the results showed that probands 1 and 2 were O01/O01, which was inconsistent with the serological results. Primers were designed for ABO blood group gene A102 specific site 467 and B101 specific site 526, and the A102 and B101 alleles damaged by diseases were detected in proband 1 and proband 2. It is speculated that the reason for the inconsistency between ABO blood group serology and gene sequencing results may be the loss of heterozygosity (LOH) of ABO blood group genes caused by diseases.
4.Lifestyle improvement and the reduced risk of cardiovascular disease: the China-PAR project.
Ying-Ying JIANG ; Fang-Chao LIU ; Chong SHEN ; Jian-Xin LI ; Ke-Yong HUANG ; Xue-Li YANG ; Ji-Chun CHEN ; Xiao-Qing LIU ; Jie CAO ; Shu-Feng CHEN ; Ling YU ; Ying-Xin ZHAO ; Xian-Ping WU ; Lian-Cheng ZHAO ; Ying LI ; Dong-Sheng HU ; Jian-Feng HUANG ; Xiang-Feng LU ; Dong-Feng GU
Journal of Geriatric Cardiology 2023;20(11):779-787
BACKGROUND:
The benefits of healthy lifestyles are well recognized. However, the extent to which improving unhealthy lifestyles reduces cardiovascular disease (CVD) risk needs to be discussed. We evaluated the impact of lifestyle improvement on CVD incidence using data from the China-PAR project (Prediction for Atherosclerotic Cardiovascular Disease Risk in China).
METHODS:
A total of 12,588 participants free of CVD were followed up for three visits after the baseline examination. Changes in four lifestyle factors (LFs) (smoking, diet, physical activity, and alcohol consumption) were assessed through questionnaires from the baseline to the first follow-up visit. Cox proportional hazard models were used to estimate hazard ratios (HRs) and corresponding 95% confidence intervals (CIs). The risk advancement periods (RAPs: the age difference between exposed and unexposed participants reaching the same incident CVD risk) and population-attributable risk percentage (PAR%) were also calculated.
RESULTS:
A total of 909 incident CVD cases occurred over a median follow-up of 11.14 years. Compared with maintaining 0-1 healthy LFs, maintaining 3-4 healthy LFs was associated with a 40% risk reduction of incident CVD (HR = 0.60, 95% CI: 0.45-0.79) and delayed CVD risk by 6.31 years (RAP: -6.31 [-9.92, -2.70] years). The PAR% of maintaining 3-4 unhealthy LFs was 22.0% compared to maintaining 0-1 unhealthy LFs. Besides, compared with maintaining two healthy LFs, improving healthy LFs from 2 to 3-4 was associated with a 23% lower risk of CVD (HR = 0.77, 95% CI: 0.60-0.98).
CONCLUSIONS
Long-term sustenance of healthy lifestyles or improving unhealthy lifestyles can reduce and delay CVD risk.
5.Diagnostic value of cross-primer isothermal amplification technology in tuberculosis and its related influencing factors
YU Huang ; LIU Chong ; OUYANG Fan-xian ; CHEN Zhuo-lin ; CHEN Lin ; CHEN Xiao-juan ; XU Yu-ni ; CHEN Shao-wen
China Tropical Medicine 2023;23(3):240-
Abstract: Objective To analyze the value and influencing factors of cross-primer isothermal amplification technology(CPA) in clinical screening and diagnosis of tuberculosis (TB). Methods We collected 543 inpatients in the Second Affiliated Hospital of Hainan Medical College from January 1, 2018 to December 31, 2021, including 179 patients with tuberculosis, 187 patients with pneumonia and 177 patients with other diseases. The patients' sputum, alveolar lavage fluid, pleural effusion and midstream urine were detected by CPA, smear microscopy, culture method and gene detection. The value of CPA detection in the diagnosis of tuberculosis and its influencing factors were evaluated. Statistical analysis was performed using SPSS 26.0. Results The total positive rate of CPA was 14.4% (78/543), and the positive rate of sputum samples accounted for 29.1% (39/134). Among the 78 cases of CPA positive patients, the tuberculosis group accounted for 69.2% (54/78), followed by pneumonia group 21.8% (17/78), and other diseases group accounted for 9.0% (7/78). Taking CPA test as the reference method, the "sensitivity" of smear microscopy was lower than that of genetic testing and culture, while the "specificity" was higher than that of culture and gene testing, and the "missed diagnosis rate" of smear microscopy was higher than that of genetic testing and culture. CPA test positive was related to gender, ESR and pneumonia. There is a good agreement between CPA test and culture method and gene test (Kappa>0.9), and a moderate agreement between CPA test and smear microscopy (Kappa=0.616). Conclusions Sputum specimen is the best choice for CPA detection, while the value of pleural effusion detection is relatively limited. Sputum, alveolar lavage fluid and midcourse urine can be used as clinical specimens for screening and diagnosis of "tuberculosis group and other disease group", while sputum can be used for screening and diagnosis of "tuberculosis group and pneumonia group". Gender, ESR and pneumonia are the influencing factors of CPA positive patients. Therefore, CPA testing is worthy of clinical promotion, but more clinical research data are needed.
6.Molecular analysis of 23 cases of B subgroup.
Jinhui XIE ; Shuangyu LI ; Mengli XUE ; Lina WU ; Ying ZHAO ; Xian HUANG ; Jinghui CHONG ; Wei WANG ; Zheng DONG ; Bo SUN ; Tongtong LI ; Shiping AN ; Lixin LI
Chinese Journal of Medical Genetics 2022;39(5):546-547
OBJECTIVE:
To explore the molecular reasons of weak expression of B antigen on the red cell.
METHODS:
Serological test for blood group was carried out, including red cell and plasma grouping, and anti-A1 and anti-H testing, and confirming weak A or B antigens by adsorption and elution. Exons 1-7 were sequenced directly, and one of them was cloned and sequenced.
RESULTS:
All of the 23 samples showed the weak B antigen by serological method. The alleles of the subgroups were identified by DNA sequencing, including 2 Bel subgroup, 4 B3 subgroup, 14 Bw subgroup, 2 CisAB subgroup and a novel allele. The novel allele showed a nucleotide substitution 662G>A in the exon 7, and the sequence was submitted to Blood Group Antigen Gene Mutation Database, and the novel allele was named Bel10.
CONCLUSION
Nucleotide substitution in exon results in blood subgroup, which showed that the antigens were weakened, and Bw phenotype was the most frequently subgroup.
ABO Blood-Group System/genetics*
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Alleles
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Exons
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Genotype
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Humans
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Nucleotides
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Phenotype
7.Association of cardiovascular diseases with milk intake among general Chinese adults.
Xin-Yan WANG ; Fang-Chao LIU ; Xue-Li YANG ; Jian-Xin LI ; Jie CAO ; Xiang-Feng LU ; Jian-Feng HUANG ; Ying LI ; Ji-Chun CHEN ; Lian-Cheng ZHAO ; Chong SHEN ; Dong-Sheng HU ; Ying-Xin ZHAO ; Ling YU ; Xiao-Qing LIU ; Xian-Ping WU ; Dong-Feng GU
Chinese Medical Journal 2020;133(10):1144-1154
BACKGROUND:
The association of milk intake with cardiovascular disease (CVD) and cause-specific mortality remained controversial and evidence among the Chinese population was limited. We aimed to study the relationship between milk intake and CVDs among general Chinese adults.
METHODS:
A total of 104,957 participants received questionnaire survey. Results of physical examination such as anthropometric measurements and biochemical tests during 2007 to 2008, demographic data and their information on milk intake were collected through standardized questionnaires. Cox proportional hazard regression models were used to calculate hazard ratios (HRs) and their corresponding 95% confidence intervals (CIs) of CVD incidence, cause-specific mortality and all-cause mortality related to milk intake. Restricted cubic splines (RCSs) were applied to examine dose-response associations.
RESULTS:
Among the 91,757 participants with a median follow-up period of 5.8 years, we documented 3877 CVD cases and 4091 all-cause deaths. Compared with participants who never consumed milk, the multivariate-adjusted HRs (95% CIs) of CVD incidence for 1 to 150 g/day, 151 to 299 g/day, and ≥300 g/day were 0.94 (0.86-1.03) (P > 0.05), 0.77 (0.66-0.89) (P < 0.05), and 0.59 (0.40-0.89) (P < 0.05), respectively; each 100 g increase of daily milk intake was associated with 11% lower risk of CVD incidence (HR, 0.89; 95% CI: 0.85-0.94; P < 0.001), and 11% lower risk of CVD mortality (HR, 0.89; 95% CI: 0.82-0.97; P = 0.008) after adjustment for age, sex, residential area, geographic region, education level, family history of CVD, smoking, alcohol drinking, physical activity level, body mass index, and healthy diet status (ideal or not). RCS analyses also showed a linear dose-response relationship with CVD (P for overall significance of the curve <0.001; P for non-linearity = 0.979; P for linearity <0.001) and stroke (P for overall significance of the curve = 0.010; P for non-linearity = 0.998; P for linearity = 0.002) incidence, and CVD mortality (P for overall significance of the curve = 0.045; P for non-linearity = 0.768; P for linearity = 0.014) within the current range of daily milk intake.
CONCLUSIONS
Daily milk intake was associated with lower risk of CVD incidence and mortality in a linear inverse relationship. The findings provide new evidence for dietary recommendations in CVD prevention among Chinese adults and people with similar dietary pattern in other countries.
9.Fetomaternal hemorrhage in RhD-negative pregnant women in Tianjin
Jinghui CHONG ; Tongtong LI ; Jinhui XIE ; Xian HUANG ; Zheng DONG
International Journal of Biomedical Engineering 2019;42(2):139-142
Objective To study and monitor the situation of femomaternal hemorrhage (FMH) in RhD-negative pregnant women in Tianjin, obtain the FMH data of such population, and analyze the relationship between FMH and age, blood type, gestational age, hemolytic disease of postpartum neonates, etc. Methods The FMH level was detected by flow cytometry with FITC-anti-HbF monoclonal antibody. The blood type was detected by blood serum method. The irregular antibody was identified by saline method and indirect anti-human ball method. The hemolysis of postpartum neonates was detected by three tests of hemolysis. Results The FMH volume of 86 RhD negative pregnant women was between 0 and 11.48 ml, with an average of 1.82 ml. There were 63.95%of pregnant women showed a volume of FMH<2.0 ml, 23.26%between 2 and 4 ml, 11.63%between 4.0 and 10.0 ml, and 1.16%>10 ml. The proportion of lower FMH in pregnant women≤30 years old was>11.71%higher than that in the pregnant women>30 years old, but the difference was no statistical significant. There was no significant difference in FMH of pregnant women with O, A, B and AB types. The proportion of higher FMH in pregnant women with compatible ABO blood type with her husband was 12.46% lower than that of the heterozygous cases, but the difference was no statistical significant. The proportion of higher FMH in the pregnant women with 28 to 32 weeks gestational age was 14.55% higher than that of ≤28 weeks and was 35.32% higher than that of >32 weeks, and the differences were statistical significant. Three samples in the 86 samples were positive for anti-D antibody, and their three hemolytic test results were strongly positive with the anti-D titer from 1:2 to 1:32 and the FMH volume from 1.50 to 6.93 ml. The proportion of lower FMH in the 10 pregnant women without postpartum hemolysis was 70% higher than that in 5 pregnant women with postpartum hemolysis, but the differences were not statistical significant. Conclusions The results suggest that monitoring FMH content by flow cytometry can reflect FMH in Rh-negative pregnant women. The studies on the relationship between FMH and age, blood type, pregnant time and hemolytic disease of postpartum neonates can provide basically experimental data for standard use of anti-D immunoglobulin in pregnant women.
10.Preferences and attitudes of young Chinese clinicians about using a shared decision making tools for communicating cardiovascular risk
Huang RONG-CHONG ; Song XIAN-TAO ; Zhang DONG-FENG ; Xu JIA-YING ; R.Boehmer KASEY ; A.Leppin AARON ; R.Gionfriddo MICHAEL ; H.Ting HENRY ; M.Montori VICTOR
Chronic Diseases and Translational Medicine 2019;5(2):105-112
Objective:This study assesses the attitudes and preferences of Chinese clinicians toward their involvement in shared decision making (SDM).Methods:From May 2014 to May 2015,200 Chinese clinicians from two hospitals were enrolled to complete a survey on their attitude towards SDM.We conducted the survey via face-to-face interviews before and after an educational intervention on SDM among young Chinese clinicians.The clinicians were asked to give the extent of agreement to SDM.They also gave the extent of difficulty in using decision aids (DAs) during the SDM process.The variation in the range of responses to each question before and after the SDM intervention was recorded.The frequency of changed responses was analyzed by using JMP 6.0 software.Data were statistically analyzed using Chi-square and Mann-Whitney U tests,as appropriate to the data type.Multiple logistic regressions were used to test for those factors significantly and independently associated with preference for an approach for each scenario.Results:Of the 200 young Chinese clinicians sampled,59.0% indicated a preference for SDM and a desire to participate in SDM before receiving education or seeing the DA,and this number increased to 69.0% after seeing the DA with the sample video of the SDM process on Statin Choice.However,28.5% of the respondents still reported that,in their current practice,they make clinical decisions on behalf of their patients.The clinicians who denied a desire to use the DA stated that the main barriers to implement SDM or DA use in China are lack of time and knowledge of SDM.Conclusions:Most young Chinese clinicians want to participate in SDM.However,they state the main barriers to perform SDM are lack of experience and time.The educational intervention about SDM that exposes clinicians to DAs was found to increase their receptivity.

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