1.Analysis on rate of adverse pregnancy outcomes in HIV-infected pregnant women and influencing factors in some regions of China, 2017-2023
Xinwei LI ; Ailing WANG ; Yanli CAO ; Qinghua QIN ; Jiarui ZHENG ; Xiaohua XIE ; Maimaitiming AIBIBAI ; Lingling GUAN ; Xiaoyan WANG ; Dongxu HUANG ; Qian WANG
Chinese Journal of Epidemiology 2025;46(1):125-130
Objective:To understand the incidence of adverse pregnancy outcome in HIV-infected pregnant women and influencing factors in China and provide reference for the improvement of the health status of HIV-infected pregnant women and their newborns.Methods:Based on a mother-child cohort of HIV-infected pregnant women and children (PMTCT-MC-2005) established in Guangxi Zhuang Autonomous Region, Yunnan Province and Xinjiang Uygur Autonomous Region, this study enrolled pregnant women with or without HIV infection as study subjects from January 2017 to June 2023, a total of 1 646 pregnant women (558 HIV-infected and 1 088 HIV-uninfected) were included, and 34 cases with missing data were excluded. The χ2 test was used to analyze the difference in the incidence adverse pregnancy outcome between two groups, and used logistic regression model to identify the influencing factors of adverse pregnancy outcome in HIV-infected pregnant women. Results:A total of 1 612 pregnant women were included in the study, in whom 541 were infected with HIV and 1 071 were not infected with HIV. The incidence of adverse pregnancy outcome was 18.8% (303/1 612), the incidence of adverse pregnancy outcome was 33.1% (179/541) in the HIV-infected pregnant women and 11.6% (124/1 071) in the pregnant women without HIV infection. The results of multivariable logistic regression analysis showed that the influencing factors of adverse pregnancy outcome were age <35 years at delivery (a OR=0.64, 95% CI: 0.43-0.95) compared with the age ≥35 years and the duration of antiviral treatment over 10 years (a OR=0.43, 95% CI: 0.23-0.79) compared with less than one year. Conclusions:The incidence of adverse pregnancy outcome in HIV-infected pregnant women was high in some regions of China during 2017-2023. It is necessary for HIV-infected women to get pregnancy at appropriate time based on antiretroviral treatment effect and strengthen self-care to reduce the incidence of adverse pregnancy outcome.
2.Analysis on rate of adverse pregnancy outcomes in HIV-infected pregnant women and influencing factors in some regions of China, 2017-2023
Xinwei LI ; Ailing WANG ; Yanli CAO ; Qinghua QIN ; Jiarui ZHENG ; Xiaohua XIE ; Maimaitiming AIBIBAI ; Lingling GUAN ; Xiaoyan WANG ; Dongxu HUANG ; Qian WANG
Chinese Journal of Epidemiology 2025;46(1):125-130
Objective:To understand the incidence of adverse pregnancy outcome in HIV-infected pregnant women and influencing factors in China and provide reference for the improvement of the health status of HIV-infected pregnant women and their newborns.Methods:Based on a mother-child cohort of HIV-infected pregnant women and children (PMTCT-MC-2005) established in Guangxi Zhuang Autonomous Region, Yunnan Province and Xinjiang Uygur Autonomous Region, this study enrolled pregnant women with or without HIV infection as study subjects from January 2017 to June 2023, a total of 1 646 pregnant women (558 HIV-infected and 1 088 HIV-uninfected) were included, and 34 cases with missing data were excluded. The χ2 test was used to analyze the difference in the incidence adverse pregnancy outcome between two groups, and used logistic regression model to identify the influencing factors of adverse pregnancy outcome in HIV-infected pregnant women. Results:A total of 1 612 pregnant women were included in the study, in whom 541 were infected with HIV and 1 071 were not infected with HIV. The incidence of adverse pregnancy outcome was 18.8% (303/1 612), the incidence of adverse pregnancy outcome was 33.1% (179/541) in the HIV-infected pregnant women and 11.6% (124/1 071) in the pregnant women without HIV infection. The results of multivariable logistic regression analysis showed that the influencing factors of adverse pregnancy outcome were age <35 years at delivery (a OR=0.64, 95% CI: 0.43-0.95) compared with the age ≥35 years and the duration of antiviral treatment over 10 years (a OR=0.43, 95% CI: 0.23-0.79) compared with less than one year. Conclusions:The incidence of adverse pregnancy outcome in HIV-infected pregnant women was high in some regions of China during 2017-2023. It is necessary for HIV-infected women to get pregnancy at appropriate time based on antiretroviral treatment effect and strengthen self-care to reduce the incidence of adverse pregnancy outcome.
3.Detection and characterization of the types of CYP21A1P/CYP21A2 and TNXA/TNXB fused genes by long-read sequencing among children with Steroid 21-hydroxylase deficiency
Qingxian FU ; Zhen LI ; Shiyi XU ; Lingling DU ; Huishu E ; Limei GUAN ; Hui LIU
Chinese Journal of Medical Genetics 2024;41(12):1416-1425
Objective:To assess the diagnostic efficiency of long-read sequencing (LRS) for the determination of CYP21A1P/ CYP21A2 and TNXA/ TNXB fusion genotypes among children with 21-hydroxylase deficiency (21-OHD) and explore their clinical characteristics. Methods:LRS sequencing was carried out on 30 children diagnosed with 21-OHD at the Department of Endocrinology, Fujian Children′s Hospital between November 2022 and September 2023 by clinical symptoms or conventional Sanger sequencing combined with multiple ligation-dependent probe amplification (MLPA). The results of the two methods were compared. Clinical data of the children were collected and analyzed. This study has been approved by the Medical Ethic Committee of the Fujian Children Hospital(Ethic No. 2022ETKLR10024).Results:Of the 30 children with 21-OHD, 11 (36.7%) were found to carry CYP21A1P/ CYP21A2 and TNXA/ TNXB fusion genes by LRS. The most common type of fused CYP21A1P/ CYP21A2 gene was CH-1 (61.5%), and 1 (3.3%) was found to harbor TNXA/ TNXB CH-1. 11 cases (36.7%) were found to carry large deletions by Sanger sequencing combined with MLPA, with the most common one being CYP21A2 exons 1-3 del (61.5%), which was followed by CYP21A2 exons 1-7 del (23.1%). Follow up of 11 patients carrying a fusion gene revealed that 6 were sale wasting (SW) types, 5 were simple virilizing (SV) types, whilst no non-classical (NC) type was found. Four girls had presented with central precocious puberty (CPP). One child carrying TNXA/ TNXB CH-1 had presented with CAH-X syndrome. Conclusion:Compared with Sanger sequencing combined with MLPA detection method, LRS sequencing was able to differentiate the subtypes of CYP21A1P/ CYP21A2 and TNXA/ TNXB fusion genes, pinpoint the breakpoints of the deletions, and directly determine the cis-trans position without the need to analyze the genotype of the pedigree members, which has provided a reliable method for the typing of 21-OHD. As some fusion genes may retain 21-hydroxylase activity, female carriers may have a higher incidence of CPP.
4.Comparison of remazolam and midazolam for sedation of synchronous electrical cardioversion
Lingling CHEN ; Ren GUAN ; Muting LU ; Qiyin ZHANG
The Journal of Clinical Anesthesiology 2024;40(6):617-620
Objective To compare the sedative effect and safety of remimazolam and midazolam in synchronous electrical cardioversion in patients with atrial fibrillation.Methods Thirty-two patients with at-rial fibrillation receiving synchronous electrical cardioversion from January 2021 to December 2022 were en-rolled,22 males and 10 females,aged 18-80 years,BMI 20-30 kg/m2,ASA physical status Ⅱ or Ⅲ.The patients were randomly divided into two groups using random number table method:remimazolam group and midazolam group,16 patients in each group.The remimazolam group was sedated with 0.2 mg/kg of intra-venous remimazolam,and the midazolam group was sedated with 0.025 mg/kg of midazolam intravenously,and the drug injection time in both groups was 1 min.The anesthesia onset time,awakening time,and ori-entation recovery time were recorded.SBP,DBP,and SpO2 were recorded before anesthesia induction(T,),when the eyelash reflex was absent(T2),after the completion of electrical cardioversion(T3),and at the time of awakening(T4).Neurobehavioral cognitive state examination(NCSE)was performed 5 mi-nutes after the patients were awake,including language ability,structural ability,memory,calculation abil-ity and reasoning ability,and the pass rate of each ability test was calculated.The occurrence of adverse re-actions during surgery(body movement,apnea)and within 12 hours after surgery(nausea,vomiting,and chest pain)was recorded.Results Compared with the midazolam group,the anesthesia onset time,awak-ening time,and orientation recovery time in the remimazolam group were significantly shortened(P<0.05).There was no significant difference in SBP,DBP,and Sp02 between the two groups at different time points.Compared with the midazolam group,the pass rate of the reasoning ability test was higher in the remimazolam group 5 minutes after awakening(P<0.05).There was no significant difference in the inci-dence of adverse reactions between the two groups.Conclusion Compared with midazolam,remimazolam has faster onset of sedation,faster awakening,faster recovery of orientation in synchronous electrical cardio-version of atrial fibrillation,and faster recovery of reasoning ability in NCSE after synchronous electrical car-dioversion.
5.Estrogen receptor beta suppresses the androgen receptor oncogenic effects in triple-negative breast cancer
Feng XU ; Kun XU ; Lingling FAN ; Xintong LI ; Yiqiu LIU ; Fang YANG ; Chengjun ZHU ; Xiaoxiang GUAN
Chinese Medical Journal 2024;137(3):338-349
Background::Triple-negative breast cancer (TNBC) is an aggressive type of breast cancer associated with poor prognosis and limited treatment options. The androgen receptor (AR) has emerged as a potential therapeutic target for luminal androgen receptor (LAR) TNBC. However, multiple studies have claimed that anti-androgen therapy for AR-positive TNBC only has limited clinical benefits. This study aimed to investigate the role of AR in TNBC and its detailed mechanism.Methods::Immunohistochemistry and TNBC tissue sections were applied to investigate AR and nectin cell adhesion molecule 4 (NECTIN4) expression in TNBC tissues. Then, in vitro and in vivo assays were used to explore the function of AR and estrogen receptor beta (ERβ) in TNBC. Chromatin immunoprecipitation sequencing (ChIP-seq), co-immunoprecipitation (co-IP), molecular docking method, and luciferase reporter assay were performed to identify key molecules that affect the function of AR. Results::Based on the TNBC tissue array analysis, we revealed that ERβ and AR were positive in 21.92% (32/146) and 24.66% (36/146) of 146 TNBC samples, respectively, and about 13.70% (20/146) of TNBC patients were ERβ positive and AR positive. We further demonstrated the pro-tumoral effects of AR on TNBC cells, however, the oncogenic biology was significantly suppressed when ERβ transfection in LAR TNBC cell lines but not in AR-negative TNBC. Mechanistically, we identified that NECTIN4 promoter –42 bp to –28 bp was an AR response element, and that ERβ interacted with AR thus impeding the AR-mediated NECTIN4 transcription which promoted epithelial–mesenchymal transition in tumor progression. Conclusions::This study suggests that ERβ functions as a suppressor mediating the effect of AR in TNBC prognosis and cell proliferation. Therefore, our current research facilitates a better understanding of the role and mechanisms of AR in TNBC carcinogenesis.
6.Detection and characterization of the types of CYP21A1P/CYP21A2 and TNXA/TNXB fused genes by long-read sequencing among children with Steroid 21-hydroxylase deficiency.
Qingxian FU ; Zhen LI ; Shiyi XU ; Lingling DU ; Huishu E ; Limei GUAN
Chinese Journal of Medical Genetics 2024;41(12):1416-1425
OBJECTIVE:
To assess the diagnostic efficiency of long-read sequencing (LRS) for the determination of CYP21A1P/CYP21A2 and TNXA/TNXB fusion genotypes among children with 21-hydroxylase deficiency (21-OHD) and explore their clinical characteristics.
METHODS:
LRS sequencing was carried out on 30 children diagnosed with 21-OHD at the Department of Endocrinology, Fujian Children's Hospital between November 2022 and September 2023 by clinical symptoms or conventional Sanger sequencing combined with multiple ligation-dependent probe amplification (MLPA). The results of the two methods were compared. Clinical data of the children were collected and analyzed. This study has been approved by the Medical Ethics Committee of the Fujian Children's Hospital (Ethic No. 2022ETKLR10024).
RESULTS:
Of the 30 children with 21-OHD, 11 (36.7%) were found to carry CYP21A1P/CYP21A2 and TNXA/TNXB fusion genes by LRS. The most common type of fused CYP21A1P/CYP21A2 gene was CH-1 (72.7%), and 1 (3.3%) was found to harbor TNXA/TNXB CH-1. Eleven cases (36.7%) were found to carry large deletions by Sanger sequencing combined with MLPA, with the most common one being CYP21A2 exons 1-3 del (72.7%), which was followed by CYP21A2 exons 1-7 del (18.2%). Follow up of 11 patients carrying a fusion gene revealed that 6 were sale wasting (SW) types, 5 were simple virilizing (SV) types, whilst no non-classical (NC) type was found. Four girls had presented with central precocious puberty (CPP). One child carrying TNXA/TNXB CH-1 had presented with CAH-X syndrome.
CONCLUSION
Compared with Sanger sequencing combined with MLPA detection method, LRS sequencing was able to differentiate the subtypes of CYP21A1P/CYP21A2 and TNXA/TNXB fusion genes, pinpoint the breakpoints of the deletions, and directly determine the cis-trans position without the need to analyze the genotype of the pedigree members, which has provided a reliable method for the typing of 21-OHD. As some fusion genes may retain 21-hydroxylase activity, female carriers may have a higher incidence of CPP.
Humans
;
Steroid 21-Hydroxylase/genetics*
;
Adrenal Hyperplasia, Congenital/genetics*
;
Child
;
Female
;
Male
;
Child, Preschool
;
Tenascin/genetics*
;
Infant
;
Genotype
;
Sequence Analysis, DNA/methods*
;
Pseudogenes
7.Detection and characterization of the types of CYP21A1P/CYP21A2 and TNXA/TNXB fused genes by long-read sequencing among children with Steroid 21-hydroxylase deficiency
Qingxian FU ; Zhen LI ; Shiyi XU ; Lingling DU ; Huishu E ; Limei GUAN ; Hui LIU
Chinese Journal of Medical Genetics 2024;41(12):1416-1425
Objective:To assess the diagnostic efficiency of long-read sequencing (LRS) for the determination of CYP21A1P/ CYP21A2 and TNXA/ TNXB fusion genotypes among children with 21-hydroxylase deficiency (21-OHD) and explore their clinical characteristics. Methods:LRS sequencing was carried out on 30 children diagnosed with 21-OHD at the Department of Endocrinology, Fujian Children′s Hospital between November 2022 and September 2023 by clinical symptoms or conventional Sanger sequencing combined with multiple ligation-dependent probe amplification (MLPA). The results of the two methods were compared. Clinical data of the children were collected and analyzed. This study has been approved by the Medical Ethic Committee of the Fujian Children Hospital(Ethic No. 2022ETKLR10024).Results:Of the 30 children with 21-OHD, 11 (36.7%) were found to carry CYP21A1P/ CYP21A2 and TNXA/ TNXB fusion genes by LRS. The most common type of fused CYP21A1P/ CYP21A2 gene was CH-1 (61.5%), and 1 (3.3%) was found to harbor TNXA/ TNXB CH-1. 11 cases (36.7%) were found to carry large deletions by Sanger sequencing combined with MLPA, with the most common one being CYP21A2 exons 1-3 del (61.5%), which was followed by CYP21A2 exons 1-7 del (23.1%). Follow up of 11 patients carrying a fusion gene revealed that 6 were sale wasting (SW) types, 5 were simple virilizing (SV) types, whilst no non-classical (NC) type was found. Four girls had presented with central precocious puberty (CPP). One child carrying TNXA/ TNXB CH-1 had presented with CAH-X syndrome. Conclusion:Compared with Sanger sequencing combined with MLPA detection method, LRS sequencing was able to differentiate the subtypes of CYP21A1P/ CYP21A2 and TNXA/ TNXB fusion genes, pinpoint the breakpoints of the deletions, and directly determine the cis-trans position without the need to analyze the genotype of the pedigree members, which has provided a reliable method for the typing of 21-OHD. As some fusion genes may retain 21-hydroxylase activity, female carriers may have a higher incidence of CPP.
8.Correlation analysis of apparent diffusion coefficient combined with C-reactive protein on delayed encephalopathy caused by carbon monoxide poisoning
Chen LI ; Min WANG ; Menglin LIANG ; Yanyun GUAN ; Lingling LIU ; Wei ZHANG ; Yubo LIU ; Jiarui XU ; Baobao FENG ; Xingguo ZHANG
Chinese Journal of Emergency Medicine 2023;32(3):327-331
Objective:To investigate the Correlation between ADC combined with serum C-reactive protein (CRP) and delayed encephalopathy after carbon monoxide poisoning (DEACMP), It provides scientific basis for early prediction of DEACMP.Methods:According to the design principle of case-control study, the data of acute carbon monoxide poisoning (ACOP) patients admitted to Shandong Provincial Hospital from December 2017 to December 2021 were retrospectively selected. Among them, patients with DEACMP were selected as the case group, without DEACMP were used as the control group. Univariate and multivariate analyses were performed on the two groups. Receiver operating characteristic curve (ROC) was used to evaluate the diagnostic efficacy of ADC combined with CRP as a combined predictor for disease.Results:A total of 89 patients with ACOP were included, including 33 patients with DEACMP and 56 patients without DEACMP. There were no significant differences in gender, age, smoking, drinking, and underlying diseases (hypertension, coronary heart disease) between groups ( P>0.05). Logistic regression analysis showed that white blood cell count (WBC) ( OR=1.64, 95% CI: 1.19-2.26, P=0.003), CRP ( OR=1.22, 95% CI: 1.03-1.45, P=0.019) and ADC value of central semiovale white matter ( OR=0.99, 95% CI: 0.98-1.00, P=0.010) were associated with DEACMP in patients with ACOP. The ROC curve results showed that the area under the ROC of ADC combined with CRP in the center of semiovale was 0.765 (95% CI: 0.656-0.845), the specificity was 87.9%, the sensitivity was 23.2%, and the cut-off value was 3.5°. Conclusions:WBC, CRP and ADC value of central semiovale are independent factors for DEACMP. ADC value of central semiovale combined with CRP has more clinical value in the early diagnosis of DEACMP. For ACOP patients with DEACMP triggering factors, the diagnosis and treatment awareness of early screening of brain magnetic resonance imaging should be strengthened to avoid DEACMP.
9.Protective factors of psychological resilience in patients with inflammatory bowel disease based on the Kumpfer model: a qualitative study
Lili YOU ; Yangyang WANG ; Siyao WANG ; Lingling ZHU ; Tiantian WANG ; Xiang YU ; Yifeng ZHANG ; Jing DONG ; Yuxia GUAN
Chinese Journal of Modern Nursing 2022;28(6):732-738
Objective:To explore the protective factors of psychological resilience in patients with inflammatory bowel disease (IBD) , so as to provide a basis for improving the psychological resilience of patients.Methods:From December 2020 to March 2021, 16 IBD patients in the Department of Gastroenterology of Peking Union Medical College Hospital were selected as the research object by purpose sampling, and the semi-structured in-depth interview was conducted with them. The interview data was organized and analyzed using the directed content analysis method.Results:A total of 3 themes and 10 sub-themes were extracted, including internal characteristics of individuals, social support network, environmental perception and active transformation. Among them, the internal characteristics of individuals included calm acceptance of the disease, positive disease cognition, appropriate emotion regulation, and clear goal motivation. Social support network consisted of solid family support, professional medical care, stable relationships, normal work status. Environmental perception and active transformation comprised selective perception of the environment and active behavioral coping.Conclusions:Medical and nursing staff should cooperate with the patient's family, friends and other parties to implement cognitive intervention, perfect the support system, and promote positive behaviors, thereby improving the patients' psychological resilience.
10.Clinicopathological features of clear cell hidradenoma in 23 cases
Lingling WU ; Yan XIA ; Yang FENG ; Xuehan WANG ; Jingwen GUAN ; Xuan WU ; Xiaoshuang WANG
Chinese Journal of Primary Medicine and Pharmacy 2022;29(7):1054-1058
Objective:To investigate the clinicopathological features, immunophenotype and differential diagnosis of clear cell hidradenoma, and to analyze the origin of clear cell hidradenoma and the underlying mechanism.Methods:The clinical data of 23 cases of clear cell hidradenoma who underwent surgical resection in Suzhou Municipal Hospital between December 2017 and July 2021 were retrospectively analyzed. Clinical manifestation, imaging features, pathological features and prognosis of the 23 cases of clear cell hidradenoma were analyzed. Expression levels of epithelial membrane antigen, cytokeratin 20, cytokeratin 7, cytokeratin 14, carcinoembryonic antigen, and gross cystic disease fluid protein 15 were detected by immunohistochemical staining technique using the EnVision system. Periodic acid-Schiff (PAS) staining was performed to visualize glycogen.Results:Among the 23 cases, 8 were male and 14 were female, aged 14-94 years, with a median age of 55 years. The first symptom of clear cell hidradenoma was epidermal bulgels in 18 cases.Contrast ultrasonography showed a subcutaneous cystic solid echo mass with abundant blood flow in the solid part. The tumor histologically consisted of two types of cells: secretory epithelial cells or glandular epithelial cells and clear cells. Twenty cases had tumors with the features of benign clear cell hidradenoma. Two cases had atypical clear cell hidradenoma with atypia and mitosis. One case had malignant clear cell hidradenoma. Tumor cells were positive for epithelial membrane antigen, cytokeratin 7, cytokeratin 14, carcinoembryonic antigen, and gross cystic disease fluid protein 15 and they were Periodic acid-Schiff-positive. Twenty-three patients were followed up for 2-36 months, of which 4 were lost to follow-up and the rest had no recurrence of clear cell hidradenoma.Conclusion:Clear cell hidradenoma is rare and has a good prognosis. Malignant clear cell hidradenoma is rarer and has a poor prognosis. Diagnosis of clear cell hidradenoma is mainly based on comprehensive analysis of pathological features and immunophenotypes. Clear cell hidradenoma should be differentiated from metastatic clear cell carcinoma, spiral adenoma, cortical adenoma, and malignant melanoma.

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