1.Distribution Characteristics and Genetic Variation Analysis of Mitochondrial Encephalomyopathy in Children: a Multicenter Study in Hainan Province
Lin DENG ; Jun LU ; Xiuling CHEN ; Yuanlong LI
JOURNAL OF RARE DISEASES 2025;4(3):308-315
To investigate and analyze the distribution characteristics and genetic variation of mitochondrial encephalomyopathy (ME) in children in Hainan province. According to the principle of capture-recapture (C-R) method, a mathematical model was established to investigate suspected and confirmed cases of ME in children treated in Hainan Province from January 2012 to January 2023. The representative hospitals in Haikou and Sanya were selected as sample sources. The Morava mitochondrial disease criteria scale was used for the initial screening of children suspected of having ME. Subsequently, further follow-up and comprehensive gene sequencing were conducted to identify confirmed ME cases. Finally, the confirmed cases were aggregated and incorporated into the mathematical model to estimate the prevalence of ME among children in Hainan Province, and their genetic variation characteristics were also analyzed. A total of 238 children with suspected ME were screened using the Morava scale, and 64 children with ME were diagnosed through gene sequencing. The prevalence of ME in children in Hainan Province was estimated to be 5.58/100 000(95% CI: 3.12/100 000-8.04/100 000) by taking the confirmed cases from the survey into the C-R mathematical model. A total of 13 disease types were involved in the confirmed cases. There were 32 cases of mtDNA mutation, involving 10 pathogenic genes. Additionally, there were 32 cases of nDNA variation, involving 23 pathogenic genes. A total of 21 new mutation sites were found, and pathogenicity analysis was performed on 14 variants of uncertain significance among them. Apart from 3 mutations for which the evidence of pathogenicity was still insufficient, the remaining mutations were predicted by the computer to be harmful and associated with alterations in protein structure. Conclusions This study estimated the prevalence of a regional rare disease (ME in children in Hainan Province) based on the principle of the C-R method, providing references for further large-scale rare disease investigations in China. The comprehensive use of the Morava scale, genetic sequencing, and pathogenicity analysis tools is helpful for clarifying the characteristics of genetic variations in children with ME and achieving early diagnosis and treatment.
2.Analysis of the recording value and significance of ancient pulmonary system epidemic diseases
Xiaodong ZHANG ; Yuelai CHEN ; Xiuling SONG
Chinese Medical Ethics 2024;37(3):373-377
From the perspective of human development history, epidemic diseases have been accompanied by human life and reproduction, causing serious threats to human health and life safety. Epidemic diseases have a rapid onset and are highly infectious, once they occur, can quickly spread to the people around them, causing many people to be infected in a short time. Pulmonary system epidemic disease is the kind of disease with the highest incidence, prevalence, and infectivity among epidemic diseases, which will also have an impact on the economic and social development and even the historical process. Overview of ancient Chinese literature, the wisdom of ancient doctors has certain reference value for possible related work today or in the future. Starting from sorting out the classical theories recorded in the ancient books of traditional Chinese medicine, this paper dug deeply into them and re⁃understood them, with a view to providing a reference for clinical diagnosis and treatment, and public health services.
3.Comparison of clinical characteristics and long-term prognosis between patients with deep infiltrating endometriosis and those without deep infiltrating endometriosis
Journal of Chinese Physician 2024;26(1):103-107
Objective:To compare and analyze the clinical characteristics and long-term prognosis of patients with deep infiltrating endometriosis (DIE) and non deep infiltrating endometriosis.Methods:A retrospective analysis was conducted on the data of 178 patients with endometriosis who underwent laparoscopic surgery at the General Hospital of Northern Theater Command from January 2016 to January 2018. Among them, 95 patients with DIE were treated as the observation group, and 83 patients with non deep infiltration were treated as the control group. Both groups were followed up for at least 5 years after surgery. Perform statistical analysis on the general clinical data, intraoperative and postoperative follow-up data of the two groups.Results:Compared with the control group, the observation group had significantly older age [(33.8±5.5)years vs (32.0±5.2)years], moderate to severe dysmenorrhea [72.6%(69/95) vs 55.4%(46/83)], chronic pelvic pain [24.2%(23/95) vs 8.4%(7/83)], higher proportion of elevated blood carbohydrate antigen 125 (CA125) [80.0%(76/95) vs 65.1%(54/83)], and higher Visual Analogue Scale (VAS) [(5.4±1.2)points vs (4.3±0.9)points]; At the same time, the surgery time was longer [(75.1±20.1)min vs (56.0±18.9)min], the patient′s intraoperative bleeding was also greater [(79.2±23.0)ml vs (57.8±16.3)min], bilateral cysts [54.7%(52/95) vs 34.9%(29/83)], severe pelvic adhesions [90.5%(86/95) vs 53.0%(44/83)], and the proportion of concurrent adenomyosis [41.1%(39/95) vs 22.9%(19/83)] was higher, with higher Revised American Fertility Society (rAFS) scores [(61.8±22.1) vs (39.4±19.1)]. The proportion of rAFS stage Ⅳ [71.6%(68/95) vs 43.4%(36/83)] was higher, and the proportion of postoperative medication was higher [98.9%(94/95) vs 92.8%(7/83)]. The above indicators showed statistically significant differences between the two groups (all P<0.05 or P<0.01). There was no statistically significant difference in the recurrence rate [21.1%(20/95) vs 15.7%(13/83)] and live birth rate [100%(35/35) vs 92.1%(35/38)] between the observation group and the control group (all P>0.05). Conclusions:Compared to non DIE patients, DIE patients have more severe pain symptoms and pelvic adhesions, higher rAFS scores, and a higher proportion of stage Ⅳ. However, there was no significant difference in postoperative recurrence rate, and there was no significant impact on fertility outcomes.
4.Immune reconstitution and influencing factors in HIV infected men who have sex with men with access to antiviral therapy in Guangxi Zhuang Autonomous Region from 2005 to 2021
Ni CHEN ; He JIANG ; Huanhuan CHEN ; Qiuying ZHU ; Xiuling WU ; Jianjun LI ; Nengxiu LIANG ; Qin MENG ; Xuanhua LIU ; Jinghua HUANG ; Wenxuan HOU ; Zhaoquan WANG ; Guanghua LAN
Chinese Journal of Epidemiology 2024;45(4):529-535
Objective:To analyze immune reconstitution and influencing factors in HIV infected men who have sex with men (MSM) with access to antiviral therapy (ART) in Guangxi Zhuang Autonomous Region (Guangxi) during 2005-2021.Methods:The data were collected from Chinese Disease Prevention and Control Information System. The study subjects were HIV infected MSM with access to the initial ART for ≥24 weeks in Guangxi from 2005 to 2021 and HIV RNA lower than the detection limit within 24 months. The proportion of infected MSM who had immune reconstitution after ART was calculated. Cox proportional hazard regression model was used to analyze the influencing factors of immune reconstitution. Software SPSS 24.0 was used for statistical analysis.Results:A total of 3 200 HIV infected MSM were enrolled, in whom 15.56 % (498/3 200) had no immune reconstitution, 14.78% (473/3 200) had moderate immune reconstitution, and the rate of complete immune reconstitution was 69.66% (2 229/3 200). The M ( Q1, Q3) of ART time for immune reconstitution was 12 (5, 27) months. Multivariate Cox proportional risk regression model analysis results showed that compared with those with initial ART at age ≥30 years, WHO clinical stage Ⅲ/Ⅳ illness, baseline BMI <18.50 kg/m 2 and baseline CD4 +T lymphocyte (CD4) counts <200 cells/μl, HIV infected MSM with initial ART at age <30 years, WHO clinical stageⅠ/Ⅱ illness, baseline BMI≥24.00 kg/m 2 and baseline CD4 counts ≥200 cells/μl were more likely to have complete immune reconstitution. Conclusions:In the HIV infected MSM in Guangxi, failures to achieve moderate and complete immune reconstitution were observed. Surveillance and ART regimen should be improved for key populations, such as those with older age and low baseline CD4 counts.
5.Prevalence and influencing factors of behavioral problems among adolescents aged 12-16 years in Guizhou Province
XIE Hongya, LI Xiuling, WANG Wen, CHEN Taihao, LUO Peng, ZHANG Jiangping
Chinese Journal of School Health 2023;44(2):211-214
Objective:
To explore the current status related to behavioral problems among children and adolescents aged 12-16 years old in Guizhou Province, China, and to provide a reference for timely prevention and intervention measures.
Methods:
To capture different economic development levels, a multistage stratified cluster sampling method was used. A total of 3 217 children and adolescents aged 12-16 years old from six middle schools and six primary schools in Guiyang, Duyun, Kaili City from Guizhou Province participated in this study. The Achenbach Child Behavior Checklist (CBCL) and a self designed questionnaire were administered between August and December 2021.
Results:
The overall detection rate of behavioral problems among the students was 16.60% , and the rate was 14.41% and 18.62% among male and female students, respectively. The results of the Logistic regression analysis showed that good peer relationships ( OR=0.25, 0.16, P <0.05) were associated with a lower risk of behavioral problems in children and adolescents. However, the following factors were associated with an elevated risk of behavioral problems: nonparents as the main caregivers( OR = 1.44 ); children s daily screen time was 1-2 h ( OR =1.47) or more than 2 h( OR =2.75); children who had no sports hobbies( OR = 1.36); father parenting for doting or neglect( OR =1.85, 2.01); maternal parenting for doting( OR = 2.12 ); father had bad life habits( OR =1.69); father and mother were occasionally sick( OR =1.30, 1.38)( P <0.05).
Conclusion
Behavioral problems among children and adolescents in Guizhou Province is related to children s unhealthy living habits and various factors in the family environment. It is suggested that families, schools and relevant functional departments give full play to their own advantages and take comprehensive measures to prevent the occurrence of behavioral problems among children and adolescents.
6.Estrogen upregulates DNA2 expression through the PI3K-AKT pathway in endometrial carcinoma.
Xinyan WANG ; Xiuling XU ; Ting ZHANG ; Yang JIN ; Sheng XU ; Lifeng CHEN ; Yucheng LAI ; Ling ZHANG ; Ruolang PAN ; Yan YU
Journal of Zhejiang University. Science. B 2023;24(3):262-268
Endometrial cancer is the most common gynecological malignancy, affecting up to 3% of women at some point during their lifetime (Morice et al., 2016; Li and Wang, 2021). Based on the pathogenesis and biological behavioral characteristics, endometrial cancer can be divided into estrogen-dependent (I) and non-estrogen-dependent (II) types (Ulrich, 2011). Type I accounts for approximately 80% of cases, of which the majority are endometrioid carcinomas, and the remaining are mucinous adenocarcinomas (Setiawan et al., 2013). It is generally recognized that long-term stimulation by high estrogen levels with the lack of progesterone antagonism is the most important risk factor; meanwhile, there is no definite conclusion on the specific pathogenesis. The incidence of endometrial cancer has been on the rise during the past two decades (Constantine et al., 2019; Gao et al., 2022; Luo et al., 2022). Moreover, the development of assisted reproductive technology and antiprogestin therapy following breast cancer surgery has elevated the risk of developing type I endometrial cancer to a certain extent (Vassard et al., 2019). Therefore, investigating the influence of estrogen in type I endometrial cancer may provide novel concepts for risk assessment and adjuvant therapy, and at the same time, provide a basis for research on new drugs to treat endometrial cancer.
Female
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Humans
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Proto-Oncogene Proteins c-akt
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Phosphatidylinositol 3-Kinases
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Endometrial Neoplasms
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Estrogens
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Breast Neoplasms
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DNA Helicases
7.Concurrent silencing of TBCE and drug delivery to overcome platinum-based resistance in liver cancer.
Senlin LI ; Siyu CHEN ; Zhihui DONG ; Xingdong SONG ; Xiuling LI ; Ziqi HUANG ; Huiru LI ; Linzhuo HUANG ; Ganyuan ZHUANG ; Ran LAN ; Mingyan GUO ; Wende LI ; Phei Er SAW ; Lei ZHANG
Acta Pharmaceutica Sinica B 2023;13(3):967-981
Platinum-based chemotherapy resistance is a key factor of poor prognosis and recurrence in hepatocellular carcinoma (HCC). Herein, RNAseq analysis revealed that elevated tubulin folding cofactor E (TBCE) expression is associated with platinum-based chemotherapy resistance. High expression of TBCE contributes to worse prognoses and earlier recurrence among liver cancer patients. Mechanistically, TBCE silencing significantly affects cytoskeleton rearrangement, which in turn increases cisplatin-induced cycle arrest and apoptosis. To develop these findings into potential therapeutic drugs, endosomal pH-responsive nanoparticles (NPs) were developed to simultaneously encapsulate TBCE siRNA and cisplatin (DDP) to reverse this phenomena. NPs (siTBCE + DDP) concurrently silenced TBCE expression, increased cell sensitivity to platinum treatment, and subsequently resulted in superior anti-tumor effects both in vitro and in vivo in orthotopic and patient-derived xenograft (PDX) models. Taken together, NP-mediated delivery and the co-treatment of siTBCE + DDP proved to be effective in reversing chemotherapy resistance of DDP in multiple tumor models.
8.Long-term survival influencing and risk factors in peritoneal dialysis patients: a single center study in Southwest China
Jin CHEN ; Xiuling CHEN ; Hui GAO ; Lijuan YIN ; Yan LI ; Qin ZHOU ; Wenshu LIU ; Pengli LI ; Junru WANG ; Guisen LI ; Li WANG
Chinese Journal of Nephrology 2023;39(5):378-382
Patients who initiated peritoneal dialysis (PD) in Sichuan Provincial People's Hospital from January 1, 2001 to December 31, 2013 were enrolled in the single center and retrospective study. Clinical and laboratory data were collected to analyze the long-term survival rates, technique survival rates and associated influencing factors. Patients were followed up until December 31, 2021 or endpoints occurred (death or stopping PD treatment). Kaplan-Meier survival curves were used to estimate survival rates and technique survival rates. Cox proportional hazards regression model was used to analyze the risk factors of death and technique failure in PD patients. A total of 373 patients were enrolled in the study, with age of (52.1±15.8) years old and 199 (53.4%) males. During the follow-up, 154 (41.3%) patients died, 72 (19.3%) patients transferred to hemodialysis, and 40 (10.7%) patients received kidney transplant. Kaplan-Meier survival curves revealed that overall survival rates of PD patients at 1, 3, 5, 7, and 10 years were 92.2%, 76.6%, 66.0%, 52.4% and 38.6%, respectively. Technique survival rates were 93.5%, 84.8%, 74.2%, 62.8% and 44.5% at 1, 3, 5, 7, and 10 years, respectively. Multivariate Cox regression model results showed that age ( HR=1.055, 95% CI 1.039-1.073, P<0.001), transfer from hemodialysis ( HR=2.212, 95% CI 1.514-3.231, P<0.001), episodes of peritonitis ( HR=2.141, 95% CI 1.194-3.837, P=0.011), Charlson comorbidity index ( HR=1.525, 95% CI 1.305-1.783, P<0.001), and baseline albumin ( HR=0.951, 95% CI 0.925-0.978, P<0.001) were independent influencing factors of survival in PD patients. Episodes of peritonitis ( HR=2.327, 95% CI 1.274-4.250, P=0.006) and Charlson comorbidity index ( HR=1.244, 95% CI 1.035-1.496, P=0.020) were independent influencing factors of technique survival in PD patients. PD patients have good early survival rates and technical survival rates, but long-term outcomes need to be further improved. Peritonitis is a major risk factor for low long-term survival rates and technical survival rates in PD patients.
9.Effects of Onodera′s prognostic nutritional index on the prognosis of locally advanced oropharyngeal squamous cell carcinoma after induction chemotherapy followed by sequential chemoradiotherapy
Yuanyuan LI ; Miao WANG ; Feng JIN ; Weili WU ; Jinhua LONG ; Xiuling LUO ; Xiuyun GONG ; Xiaoxiao CHEN
Chinese Journal of Radiological Medicine and Protection 2023;43(4):256-262
Objective:To explore the effects of Onodera′s prognostic nutritional index (PNI) on the prognosis of locally advanced oropharyngeal squamous cell carcinoma (LA-OPSCC) after induction chemotherapy followed by sequential chemoradiotherapy.Methods:A retrospective analysis was conducted on the clinical data of 52 LA-OPSCC patients receiving induction chemotherapy followed by sequential chemoradiotherapy in The Affiliated Cancer Hospital of Guizhou Medical University during 2014-2018. The PNI values of all the patients at different treatment phases were statistically analyzed, and the ROC curve was employed to determine the optimal critical value of PNI. The patients in this study were divided into a well-nourished group ( n = 27) and a poorly-nourished group ( n = 25). The Kaplan-Meier method was used for survival analysis. The Cox proportional hazards model was utilized to analyze the relationships between different nutritional status and prognosis. Clinical features and adverse reactions were compared between the two groups. Results:The PNI values decreased significantly after radiotherapy, with an optimal critical value of 42.4. The 5-year overall survival (OS) and progression-free survival (PFS) of the well-nourished group (PNI ≥ 42.4) were 62.6% and 60.9%, respectively, which were significantly higher than those (30.1% and 29.7%) of the poorly-nourished group (PNI < 42.4, χ2 = 11.12, 5.74, P < 0.05). The multivariate analysis showed that PNI was an independent prognostic factor for the OS after radiotherapy ( HR = 2.752, 95% CI: 1.095-6.917, P = 0.031). The LA-OPSCC patients aged over 60 years or those who did not respond to induction chemotherapy accounted for a higher proportion of malnutrition after chemoradiotherapy ( χ2 = 4.89, 5.05, P < 0.05). Conclusions:PNI after radiotherapy can be used as a prognostic factor in the evaluation of LA-OPSCC patients receiving induction chemotherapy followed by sequential chemoradiotherapy. The LA-OPSCC patients aged over 60 years or those who do not respond to induction chemotherapy should receive more nutritional support during the chemoradiotherapy.
10.Longitudinal investigation of post-traumatic growth and rumination in patients with coronary heart disease after percutaneous coronary intervention
Feier CHEN ; Lihong GAO ; Xiuling WANG ; Shuxin ZHANG
Chinese Journal of Practical Nursing 2023;39(35):2735-2740
Objective:To describe the changes of post-traumatic growth and rumination in coronary heart disease patients at different time points after PCI, and to analyze the correlation between them in order to provide evidence for personalized intervention.Methods:A cross-sectional study was conducted, a total of 234 patients with coronary heart disease who underwent PCI for the first time in the Department of Cardiology, the First Affiliated Hospital of China Medical University from December 2021 to October 2022 were studied by convenience sampling. The general data questionnaire, the Chinese version of the Event-Related Rumination Inventory and the simplified Chinese version of the Posttraumatic Growth Inventory were used to survey before discharge (T 0), first month after surgery (T 1), and three months after surgery (T 2). Results:The total scores of post-traumatic growth at the time point of T 0, T 1 and T 2 were 53.08 ± 13.47, 54.77 ± 11.20 and 59.32 ± 7.95, the difference was statistically significant ( F = 78.45, P<0.01). The scores of instrusive rumination at the time point of T 0, T 1 and T 2 were 14.92 ± 6.07, 15.78 ± 4.64 and 12.31 ± 3.38, the difference was statistically significant ( F = 46.58, P<0.01). The scores of deliberate rumination were 14.63 ± 4.74, 15.52 ± 3.93 and 17.86 ± 3.70, the difference was statistically significant ( F = 76.20, P<0.01). Instrusive rumination at T 0, T 1 and deliberate rumination at each point were positively correlated with the total score of post-traumatic growth ( r values were 0.229 to 0.414, all P<0.01). Instrusive rumination at T 2 was negatively correlated with posttraumatic growth scores ( r = -0.351, P<0.01). The deliberate rumination at T 2 time point was positively correlated with the total score of post-traumatic growth ( r = 0.403, P<0.01). Conclusions:The level of posttraumatic growth in patients with coronary heart disease after PCI needs to be improved, and targeted intervention should be planned early to change patients′pessimistic cognition caused by the disease, promote the development of positive thinking, then promote their posttraumatic growth.


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