1.Identification of Rare 3.5 kb Deletion in the β-Globin Gene Cluster.
Yun-Hua FAN ; Cui-Lin DUAN ; Sai-Li LUO ; Shi-Jun GE ; Chong-Fei YU ; Jue-Min XI ; Jia-You CHU ; Zhao-Qing YANG
Journal of Experimental Hematology 2025;33(1):175-179
OBJECTIVE:
To identify the gene mutation types of 4 suspected β-thalassemia patients in Yunnan Province, and to analyze the genotypes and hematological phenotypes.
METHODS:
Whole genome sequencing was performed on the samples of 4 suspected β-thalassemia patients from the Dai ethnic group in a thalassemia endemic area of Yunnan Province, whose hematological phenotypes were not consistent with the results of common thalassemia gene mutations. The mutations of β-globin gene clusters were confirmed by polymerase chain reaction (PCR) and Sanger DNA sequencing technology.
RESULTS:
The 3.5 kb deletion in β-globin gene cluster (NC_000011.10: g. 5224302-5227791del3490bp) was detected in 4 patients' samples, of which 1 case was also detected with HbE mutation and 1 case with CD17 mutation. These 2 patients displayed moderate anemia phenotype, while the two patients with only the 3.5 kb deletion presented with other mild anemia phenotype.
CONCLUSION
Heterozygous carriers with rare 3.5 kb deletion of the β-globin gene cluster may develop mild anemia, compound mutations of the 3.5 kb deletion with other mutations may led to intermediate thalasemia with moderate to sever anemia. In areas with a high incidence of thalassemia, suspected patients should undergo genetic testing to avoid missing or misdiagnosing rare mutations.
Humans
;
beta-Globins/genetics*
;
Multigene Family
;
beta-Thalassemia/genetics*
;
Mutation
;
Genotype
;
Sequence Deletion
;
Phenotype
;
Male
;
Female
2.Standard for monitoring and evaluation of two-dimensional- and three-dimensional-transesophageal echocardiography during transcatheter tricuspid valve replacement
Cuizhen PAN ; Wei LI ; Daxin ZHOU ; Yuan ZHANG ; Wenzhi PAN ; Shasha CHEN ; Jing SHI ; Haiyan CHEN ; Dehong KONG ; Yu LIU ; Zhenyi GE ; Chunqiang HU ; Kefang GUO ; Xianhong SHU ; Junbo GE
Chinese Journal of Ultrasonography 2023;32(5):449-454
Transcatheter tricuspid valve intervention is the new frontier of interventional cardiology. The LuX-Valve is a radial force-independent orthotopic tricuspid valve replacement device developed in China. The LuX-Valve Plus transcatheter tricuspid valve replacement (TTVR) system is changed from the trans-atrial to the transjugular approach, which further reduces trauma and pulmonary complications compared with the first generation LuX-Valve. The first-in-human study has been completed at Zhongshan Hospital, Fudan University and an exploratory multicentre clinical study is underway. Echocardiography plays an important role in pre-TTVR screening, intraoperative guidance and postoperative evaluation and follow-up, especially two-dimensional transoesophageal echocardiography (2D-TEE) and three-dimensional transoesophageal echocardiography (3D-TEE). However, there is a lack of appropriate intraoperative guidance and assessment protocols. In this study, we briefly described the protocols and imaging considerations for intraoperative 2D-TEE and 3D-TEE to ensure the successful implantation of TTVR.
3.The prevalence of HIV, hepatitis C virus and syphilis and related factors among cross-border couples in Mangshi county, Dehong Dai and Jingpo Autonomous Prefecture of Yunnan province from 2017 to 2019.
Cui Ping XU ; Ben Li DU ; Yan HOU ; Nai Li SHI ; Wei WANG ; Yue Cheng YANG ; Duo SHAN
Chinese Journal of Preventive Medicine 2022;56(8):1101-1106
Objective: To understand the prevalence of HIV, hepatitis C virus (HCV) and syphilis and related factors among cross-border couples in Mangshi county, Dehong autonomous prefecture, Yunnan province. Methods: From May, 2017 to April, 2019, 2 500 couples with 5 000 cross-border marriages were selected by using cluster sampling method. The demographic characteristics, AIDS-related health services, HIV, HCV, syphilis infection and other information were collected through questionnaires and laboratory tests. The influencing factors of HIV, HCV and syphilis infection were analyzed by multivariate logistic regression model. Results: A total of 2 500 couples with cross-border marriage were investigated, among which 2 438 (97.5%) couples were Chinese men with Myanmar women. The average age of 5 000 participants was (34.16±9.00) years. Most of them were minority groups (59.9%), farmers (98.5%), education years ≤6 years (81.4%), marriage years>3 years (80.0%), and from mountainous areas (61.7%). The HIV prevalence of Chinese and Myanmar populations was 1.7% (43/2 500) and 2.0% (49/2 500), respectively. The HCV infection rates were 2.0% (49/2 500) and 1.3% (32/2 500), respectively and the infection rates of syphilis were 0.4% (10/2 500) and 0.2% (4/2 500), respectively. There were no statistically significant differences in the prevalence of three diseases among Chinese and Myanmar populations (P>0.05). The multivariate analysis showed that compared with those aged ≤ 30 years, having lower AIDS awareness, never receiving HIV testing, without HCV and syphilis infection, HIV prevalence was higher among those aged>30 years (OR=3.21, 95%CI: 1.80-5.73), having higher AIDS awareness (OR=17.41, 95%CI: 4.27-70.91), receiving HIV testing (OR=4.93, 95%CI: 2.72-8.92), with HCV infection (OR=5.64, 95%CI: 2.72-11.70) and syphilis infection (OR=8.37, 95%CI: 1.63-43.08). Compared with those aged ≤ 30 years, having marriage years ≤ 3 years, and with HIV negatives, HCV infection rate was higher among those age>30 years (OR=3.02, 95%CI: 1.69-5.38), having marriage years>3 years (OR=2.24, 95%CI: 1.34-3.74), and with HIV positives (OR=6.69, 95%CI: 3.29-13.59). Compared with those having HIV negatives, the syphilis infection rate was relatively higher among participants with HIV positives (OR=9.07, 95%CI: 2.00-41.10). Conclusion: The prevalence of HIV, HCV, and syphilis among cross-border couples in Mangshi county, Dehong autonomous prefecture of Yunnan province is relatively high. Age, AIDS awareness, HIV testing history, and the length of marriage are associated with the HIV, HCV, and syphilis infection.
Acquired Immunodeficiency Syndrome
;
China/epidemiology*
;
Female
;
HIV Infections/epidemiology*
;
Hepacivirus
;
Hepatitis C/epidemiology*
;
Humans
;
Male
;
Prevalence
;
Risk Factors
;
Syphilis/epidemiology*
4.Real-time monitoring and step-by-step guidance for transcatheter tricuspid annuloplasty using transesophageal echocardiography
Cuizhen PAN ; Daxin ZHOU ; Xiaochun ZHANG ; Wei LI ; Shasha CHEN ; Yuan ZHANG ; Jing SHI ; Haiyan CHEN ; Dehong KONG ; Yu LIU ; Zhenyi GE ; Kefang GUO ; Xianhong SHU ; Junbo GE
Chinese Journal of Ultrasonography 2022;31(7):626-630
Tricuspid regurgitation (TR) interventions are under rapid development. The K-Clip? system is the first domestic transcatheter tricuspid annuloplasty system with unique clamping procedure to achieve annular reduction.Intraoperative echocardiographic monitoring procedures for transcatheter tricuspid annuloplasty have not been reported yet in China. Thus, this review aimed to propose the standard two-dimensional and three-dimensional transesophageal echocardiographic workplanes and procedures to guide and monitor the implantation of K-Clip system based on our experience in Zhongshan Hospital, Fudan University to provide a reference point for the intraoperative echocardiographic monitoring of future transcatheter tricuspid annuloplasty devices in China.
5.AIDS, syphilis and gonorrhea testing results among 385 men who have sex with men in Dehong Prefecture in 2018
Ren-hai TANG ; Chun-yan HE ; Li-fen XIANG ; Jie GAO ; Yang TANG ; Lin LI ; Xue-xian WANG ; Yue-cheng YANG ; Ji-bao WANG ; Shi-tang YAO ; Run-hua YE ; Na HE ; Ying-ying DING ; Song DUAN
Shanghai Journal of Preventive Medicine 2021;33(12):1127-1130
ObjectiveTo understand the infection of AIDS, syphilis, and gonorrhea in men who have sex with men (MSM), and the factors influencing the acceptance of gonorrhea testing in Dehong Dai Jingpo Autonomous Prefecture (Dehong Prefecture), Yunnan Province. MethodsAcross-sectional survey was conducted to describe and analyze the acceptance of AIDS, syphilis, and gonorrhea testing among MSM tracked in Dehong Prefecture in 2018. ResultsA total of 385 MSM were included in the analysis, with a 100.0% HIV and syphilis testing rate. The HIV antibody positivity rate was 10.6% (41/385) and the positivity rate of syphilis antibody was 14.8%(57/385). Only 30.4% of the subjects were willing to test for gonorrhea, and 13.7%(16/117)of them were test positive. Further multifactorial analysis revealed that local MSM and syphilis co-infected individuals were more likely to be tested for gonorrhea (
6. Comparison of chest CT images between confirmed and suspected cases of COVID-19
Rui HU ; Nan HUANG ; Wen CHEN ; Qiang HE ; Liang ZHAO ; Junhua QIU ; Dehong WU ; Can GUO ; Lin XU
Chinese Journal of Radiology 2020;54(0):E015-E015
Objective:
To explore the value of chest CT features and clinical indexes in the differential diagnosis between suspected COVID-19 with two or more negative nucleic acid tests and confirmed COVID-19.
Methods:
The clinical data and chest CT images of 105 cases withconfirmedCOVID-19 (55 males and 50 females, aged from 2 month to 88 years) and 97 cases with suspected COVID-19(59 males and 38 females, aged from 1 month to 93 years) were analyzed retrospectively in Shiyan Taihe Hospital from January 21 to February 10, 2020.
7.Phenotype Analysis of 78 Cases of Abnormal Hemoglobin E Homozygotes.
Yun-Hua PAN ; Wei-Xia GUO ; Sai-Li LUO ; Xian-Rong TAN ; Shi-Jun GE ; Bi-Qing YANG ; Zhao-Qing YANG
Journal of Experimental Hematology 2019;27(5):1580-1584
OBJECTIVE:
To analyze the hematological characteristics of HbE homozygotes.
METHODS:
Complete blood cells count and hemoglobin electrophoresis were used for phenotypic analysis of 78 cases with HbE homozygotes from Yunnan province, China. The PCR-fluorescence hybridization was used to detect the common gene mutation of thalassemia. The hematological indexes, including MCV, MCH, Hb, HbA2, HbF and HbE were statistically analyzed between groups with different sex, ages and compound α thalassemia status.
RESULTS:
In HbE homozygotes (HbEE), 89.5% (17/19) children presented mild to moderate microcytic hypochromic anemia, and 10.5% of them presented moderate anemia. 39.6% (19/48) of women with HbEE developed mild anemia ,while 11 cases of male with HbE homozygotes were asymptomatic. The levels of MCV and MCH in HbE homozygotes increased by co-inheritance of α thalassemia mutation.
CONCLUSION
The clinical phenotype of HbE homozygote shows highly heterogeneous, which is relates with age, sex and co-inheriting α-globin genotypes. In Hb EE women and children are more likely to develop mild to moderate anemia. The microcytic hypochromic anemia degree is relieved when HbEE combined with α- thalassemia.
Child
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China
;
Female
;
Genotype
;
Hemoglobin E
;
genetics
;
Homozygote
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Humans
;
Male
;
Phenotype
;
alpha-Thalassemia
8.HIV prevalence and risk factors among premarital couples in Dehong Prefecture of Yunnan Province, 2017
Yu-rong GONG ; Shi-jie QIAO ; Shi-jiang YANG ; Yue-cheng YANG ; Ren-hai TANG ; Yan-fen CAO ; Jie GAO ; Lin LI ; Run-hua YE ; Ji-bao WANG ; Shi-tang YAO ; Ying-ying DING ; Na HE ; Song DUAN
Chinese Journal of Disease Control & Prevention 2019;23(1):114-117
Objective To understand the prevalence of HIV infection and its influencing factors in the premarital physical examination population in Dehong Prefecture, Yunnan Province, 2017. Methods The data of people receiving premarital medical examination was collected, the demographic characteristics was described and the related factors was analyzed by Logistic regression. Results There were 21 875 participants receiving premarital medical examination in Dehong. 98(0.45%) participants were confirmed positive for HIV and male infection rate was 0.47% (52/10 955) and female was 0.42% (46/10 920). Among the 98 patients, 20 patients were infected in the first time, and main route was sexual transmission accounting for 81.63% (80/98). Logistic multivariate regression analysis showed that age, ethnicity and drug use were the influencing factors for premarital couples infecting HIV. The risk of HIV infection in 31-40 and 41-50 years old group was higher than the people under 25 years old group(OR=3.78, 95% CI:1.81-7.89, P<0.001;OR=3.95, 95% CI:1.72-9.08, P=0.001). The infection risk of Dai and Jingpo ethnic group was higher than that of the Han ethnic(OR=1.86, 95% CI:1.06-3.29, P=0.031;OR=3.25, 95% CI:1.81-5.84, P<0.001). The risk of infection among drug users was much higher than non-drug users (OR=926.76, 95% CI:271.65-3 161.71, P<0.001). Conclusion Age, ethnicity, and drug use are influencing factors of HIV infection among premarital couples. Targeted measures need to be taken against risk factors. HIV infection is mainly transmitted by sexual transmission. It can be effectively detected and controlled through premarital medical examination.
9.Epidemiological characteristics of co-infection of hepatitis C virus among newly reported HIV infeced patients in Chinese and Burmese from 2016 to 2017 in Dehong Prefecture of Yunnan Province
Ji-bao WANG ; Xiao-chen CHEN ; Xing DUAN ; Yi-kui WANG ; Jin YANG ; Tao YANG ; Run-hua YE ; Yue-cheng YANG ; Shi-tang YAO ; Song DUAN ; Na HE
Chinese Journal of Disease Control & Prevention 2019;23(10):1293-1296,1300
Objective To understand the prevalence and epidemiological characteristics of hepatitis C virus (HCV) co-infection among newly reported HIV-infected patients from 2016 to 2017 in Dehong Prefecture of Yunnan Province. Methods A cross-sectional survey was conducted to detect HCV antibodies in 2 196 newly reported HIV-infected persons in Dehong Prefecture, Yunnan Province, from 2016 to 2017. Results A total of 694 cases(31.6%) were detected antibodies against HCV during HIV-infected persents. The prevalence of HCV co-infection among newly reported HIV-infected patients in Chinese and Burmese was 14.4% (112/780) and 41.1% (582/1 416), respectively. Moreover, the prevalence of HCV co-infection was higher in male, ethnic minorities such as Dai and Jingpo minority, primary school and below and farmers in both Chinese and Burmese. Multivariate Logistic regression model showed that HCV infection was associated with male, Dai minority, HIV infection by injecting drug and famers among Chinese and Burmese reported HIV-infected patients. Conclusions The prevalence of HCV co-infection was high among newly reported in Dehong Prefecture of Yunnan Province. Meanwhile, the epidemiological characteristics of HIV/HCV co-infections in Chinese and Burmese are different, thus different prevention and control measures are needed for patients of different nationalities.
10.The present situation of access to HIV/AIDS public health services among cross-border couples in Dehong Prefecture
Yue-cheng YANG ; Chun-yan HE ; Lin LI ; Run-hua YE ; Ji-bao WANG ; Shi-tang YAO ; Na HE ; Ying-ying DING ; Song DUAN
Chinese Journal of Disease Control & Prevention 2019;23(12):1503-1509
Objective To investigate the accessibility of HIV-related public health services among cross-border couples living in Dehong Prefecture and age differences. Methods A cross-sectional survey was conducted among cross-border couples in Dehong Prefecture from January 2017 to July 2019. Results In total, 32 182 participants were included. The proportion of people who had received HIV testing services, HIV-related intervention services in past year, care and help in the past year, and participated in new rural cooperative medical services (NCMS) were 57.8%, 92.7%, 6.5% and 94.5%, respectively; and the latter three services were significantly different across age groups (P<0.001). In multivariable Logistic regression model, variables significantly associated with having ever received HIV testing services older age (51-85 years: OR=0.71, 95% CI: 0.63-0.81), women (OR=1.14, 95% CI:1.03-1.25), county/city (Longchuan: OR=6.30, 95% CI: 5.72-6.93; Lianghe: OR=1.27, 95% CI: 1.11-1.44; Yingjiang: OR=0.88, 95% CI: 0.82-0.94), Dai ethnic minority (OR=1.60, 95% CI: 1.50-1.72), marriage registration (marriage registration for border inhabitants: OR=0.60, 95% CI: 0.56-0.65; non-registration: OR=0.66, 95% CI: 0.62-0.70), years of marriage (4-5 years: OR=1.21, 95% CI: 1.12-1.31; 6-60 years: OR=1.30, 95%CI:1.22-1.39), having not received care and help in the past year (OR=0.64, 95% CI: 0.58-0.71) and having not participated in NCMS (OR=0.58, 95% CI: 0.52-0.65). Conclusions The accessibility to HIV-related public health services are relatively high among cross-border couples in Dehong Prefecture. However, the relatively low proportion of receiving AIDS testing services, particularly among certain groups and counties/cities, need to be strengthened.

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