1.Genetic Analysis of Thalassemia in Children in Liuzhou of Guangxi Zhuang Autonomous Region
Bi-Yu LU ; De-Jian YUAN ; Li-Shuang HUANG ; Liu-Qun QIN ; Qing-Yan ZHONG
Journal of Experimental Hematology 2024;32(5):1490-1495
Objective:To investigate the characteristics of thalassemia gene types in children in Liuzhou,Guangxi.Methods:A total of 822 children suspected thalassemia aged from 1 day to 14 years who were admitted to our hospital from January 2019 to April 2022 were collected.Gap-PCR and PCR combined with reverse dot blot hybridization were used to detect α-and β-thalassemia genes.Results:Among 822 children,561 thalassemia carriers were detected,with a detection rate of 68.25%.Among them,303 cases were detected with α-thalassemia,and the most common genotype was--SEA/αα(163 cases),followed by-α3.7/αα(37 cases)and αcsα/αα(26 cases),44 cases with HbH disease.240 cases were detected with β-thalassemia,with a detection rate of 29.20%,and the most common genotype was βCD41-42/β N(112 cases),followed by βCD17/βN(75 cases)and βIVS-Ⅱ-654/β N(11 cases),11 cases with moderate to severe β-thalassemia.18 cases were detected with α β-thalassemia,with a detection rate of 2.19%,and--SEA/αα complex βCD41-42/βN was the most common genotype(4 cases).In Zhuang and Han populations,the detection ratio of-α3.7α/αα in α-thalassemia was the same(both 12.50%).While,the other main types such as--SEA/αα,αCSα/αα and-α4.2α/αα had certain differences.In β-thalassemia,CD41-42 and CD17 were the main genotypes detected in Han and Zhuang.Conclusion:In Liuzhou of Guangxi autonomous region,α-thalassemia is the main type in children,with a detection rate of 68.25%,and--SEA/αα is the most common genotype in mild thalassemia,followed by βCD41-42/βN.The detection rate of moderate to severe α-and β-thalassemia is relatively high.There are certain differences in the distribution of thalassemia among different ethnic groups.
2.The Association between Educational Attainment and the Risk of Nonalcoholic Fatty Liver Disease among Chinese Adults: Findings from the REACTION Study
Yuanyue ZHU ; Long WANG ; Lin LIN ; Yanan HUO ; Qin WAN ; Yingfen QIN ; Ruying HU ; Lixin SHI ; Qing SU ; Xuefeng YU ; Li YAN ; Guijun QIN ; Xulei TANG ; Gang CHEN ; Shuangyuan WANG ; Hong LIN ; Xueyan WU ; Chunyan HU ; Mian LI ; Min XU ; Yu XU ; Tiange WANG ; Zhiyun ZHAO ; Zhengnan GAO ; Guixia WANG ; Feixia SHEN ; Xuejiang GU ; Zuojie LUO ; Li CHEN ; Qiang LI ; Zhen YE ; Yinfei ZHANG ; Chao LIU ; Youmin WANG ; Shengli WU ; Tao YANG ; Huacong DENG ; Lulu CHEN ; Tianshu ZENG ; Jiajun ZHAO ; Yiming MU ; Weiqing WANG ; Guang NING ; Yufang BI ; Yuhong CHEN ; Jieli LU
Gut and Liver 2024;18(4):719-728
Background/Aims:
Low educational attainment is a well-established risk factor for nonalcoholic fatty liver disease (NAFLD) in developed areas. However, the association between educational attainment and the risk of NAFLD is less clear in China.
Methods:
A cross-sectional study including over 200,000 Chinese adults across mainland China was conducted. Information on education level and lifestyle factors were obtained through standard questionnaires, while NAFLD and advanced fibrosis were diagnosed using validated formulas. Outcomes included the risk of NAFLD in the general population and high probability of fibrosis among patients with NAFLD. Logistic regression analysis was employed to estimate the risk of NAFLD and fibrosis across education levels. A causal mediation model was used to explore the potential mediators.
Results:
Comparing with those receiving primary school education, the multi-adjusted odds ratios (95% confidence intervals) for NAFLD were 1.28 (1.16 to 1.41) for men and 0.94 (0.89 to 0.99) for women with college education after accounting for body mass index. When considering waist circumference, the odds ratios (95% CIs) were 0.94 (0.86 to 1.04) for men and 0.88 (0.80 to 0.97) for women, respectively. The proportions mediated by general and central obesity were 51.00% and 68.04% for men, while for women the proportions were 48.58% and 32.58%, respectively. Furthermore, NAFLD patients with lower educational attainment showed an incremental increased risk of advanced fibrosis in both genders.
Conclusions
In China, a low education level was associated with a higher risk of prevalent NAFLD in women, as well as high probability of fibrosis in both genders.
3.Corrigendum to: The Association between Educational Attainment and the Risk of Nonalcoholic Fatty Liver Disease among Chinese Adults: Findings from the REACTION Study
Yuanyue ZHU ; Long WANG ; Lin LIN ; Yanan HUO ; Qin WAN ; Yingfen QIN ; Ruying HU ; Lixin SHI ; Qing SU ; Xuefeng YU ; Li YAN ; Guijun QIN ; Xulei TANG ; Gang CHEN ; Shuangyuan WANG ; Hong LIN ; Xueyan WU ; Chunyan HU ; Mian LI ; Min XU ; Yu XU ; Tiange WANG ; Zhiyun ZHAO ; Zhengnan GAO ; Guixia WANG ; Feixia SHEN ; Xuejiang GU ; Zuojie LUO ; Li CHEN ; Qiang LI ; Zhen YE ; Yinfei ZHANG ; Chao LIU ; Youmin WANG ; Shengli WU ; Tao YANG ; Huacong DENG ; Lulu CHEN ; Tianshu ZENG ; Jiajun ZHAO ; Yiming MU ; Weiqing WANG ; Guang NING ; Yufang BI ; Yuhong CHEN ; Jieli LU
Gut and Liver 2024;18(5):926-927
4.Association of energy metabolism with serum thyroid hormone levels in patients with liver failure and their impact on prognosis
Xing LIU ; Ming KONG ; Xin HUA ; Yinchuan YANG ; Manman XU ; Yanzhen BI ; Lu LI ; Zhongping DUAN ; Yu CHEN
Journal of Clinical Hepatology 2023;39(1):137-141
Objective To explore the predictive value of the model for end-stage liver disease (MELD) score, energy metabolism and serum thyroid hormone levels on the severity and prognosis of patients with liver failure and their correlation. Methods This study collected clinicopathological data from 60 liver failure patients, e.g., end-stage liver disease (MELD) score, energy metabolism, and serum thyroid hormone levels. The χ 2 test was performed to analyze the categorical variables, while the Mann-Whitney U test and independent sample t test were performed to assess the continuous variables between the two groups. Spearman correlation coefficient test was used to evaluate correlation of each index. The receiver operating characteristic (ROC) curve was used to analyze the optimal cut-off points of serum total triiodothyronine (TT3) and free triiodothyronine (FT3) levels in predicting prognosis of the patients. Results The rates of low TT3 and FT3 levels in liver failure patients were 78.2% and 69.1%, respectively, whereas the low TT3 rates were 95.2% and 67.6% and the low FT3 rates were 90.5% and 55.9% in survival and non-survival groups of patients, respectively (both P < 0.05). Moreover, the MELD score was significantly higher in the non-survival patients than in survival patients [26.0(21.0-29.0) vs 21.0 (19.0-24.0), Z =-3.396, P =0.001], while TT3 and FT3 levels were significantly lower in the non-survival patients than in the survival patients [0.69(0.62-0.73) vs 0.83(0.69-0.94) and 2.17(1.99-2.31) vs 2.54(2.12-2.86), respectively; Z =-2.884、-2.876, all P < 0.01]. The MELD score was negatively associated with serum TT3, FT3, and thyroid stimulating hormone (TSH) levels and the respiratory quotient (RQ) ( r =-0.487、-0.329、-0.422、-0.350, all P < 0.01), whereas the RQ was associated with serum TT3 and FT3 levels ( r =0.271、0.265, all P < 0.05). The optimal cutoff values in predicting the severity and survival of patients was 0.75 nmol/L and 2.37pmol/L with the sensitivity values of 67.6% and 64.7% and the specificity of 90.5% and 81.0%, respectively. Conclusion Abnormal thyroid hormone levels and low respiratory quotient could be used to predict the severity and prognosis of patients with liver failure.
5.Risk factors for neonatal asphyxia and establishment of a nomogram model for predicting neonatal asphyxia in Hubei Enshi Tujia and Miao Autonomous Prefecture: a multicenter study.
Fang JIN ; Yu CHEN ; Yi-Xun LIU ; Su-Ying WU ; Chao-Ce FANG ; Yong-Fang ZHANG ; Lu ZHENG ; Li-Fang ZHANG ; Xiao-Dong SONG ; Hong XIA ; Er-Ming CHEN ; Xiao-Qin RAO ; Guang-Quan CHEN ; Qiong YI ; Yan HU ; Lang JIANG ; Jing LI ; Qing-Wei PANG ; Chong YOU ; Bi-Xia CHENG ; Zhang-Hua TAN ; Ya-Juan TAN ; Ding ZHANG ; Tie-Sheng YU ; Jian RAO ; Yi-Dan LIANG ; Shi-Wen XIA
Chinese Journal of Contemporary Pediatrics 2023;25(7):697-704
OBJECTIVES:
To investigate the risk factors for neonatal asphyxia in Hubei Enshi Tujia and Miao Autonomous Prefecture and establish a nomogram model for predicting the risk of neonatal asphyxia.
METHODS:
A retrospective study was conducted with 613 cases of neonatal asphyxia treated in 20 cooperative hospitals in Enshi Tujia and Miao Autonomous Prefecture from January to December 2019 as the asphyxia group, and 988 randomly selected non-asphyxia neonates born and admitted to the neonatology department of these hospitals during the same period as the control group. Univariate and multivariate analyses were used to identify risk factors for neonatal asphyxia. R software (4.2.2) was used to establish a nomogram model. Receiver operator characteristic curve, calibration curve, and decision curve analysis were used to assess the discrimination, calibration, and clinical usefulness of the model for predicting the risk of neonatal asphyxia, respectively.
RESULTS:
Multivariate logistic regression analysis showed that minority (Tujia), male sex, premature birth, congenital malformations, abnormal fetal position, intrauterine distress, maternal occupation as a farmer, education level below high school, fewer than 9 prenatal check-ups, threatened abortion, abnormal umbilical cord, abnormal amniotic fluid, placenta previa, abruptio placentae, emergency caesarean section, and assisted delivery were independent risk factors for neonatal asphyxia (P<0.05). The area under the curve of the model for predicting the risk of neonatal asphyxia based on these risk factors was 0.748 (95%CI: 0.723-0.772). The calibration curve indicated high accuracy of the model for predicting the risk of neonatal asphyxia. The decision curve analysis showed that the model could provide a higher net benefit for neonates at risk of asphyxia.
CONCLUSIONS
The risk factors for neonatal asphyxia in Hubei Enshi Tujia and Miao Autonomous Prefecture are multifactorial, and the nomogram model based on these factors has good value in predicting the risk of neonatal asphyxia, which can help clinicians identify neonates at high risk of asphyxia early, and reduce the incidence of neonatal asphyxia.
Infant, Newborn
;
Humans
;
Male
;
Pregnancy
;
Female
;
Nomograms
;
Retrospective Studies
;
Cesarean Section
;
Risk Factors
;
Asphyxia Neonatorum/etiology*
6.Prevalence and treatment of anemia in chronic kidney disease patients based on regional medical big data.
Yang Fan CHAI ; Hong Bo LIN ; Guo Hui DING ; Jin Wei WANG ; Huai Yu WANG ; Su Yuan PENG ; Bi Xia GAO ; Xin Wei DENG ; Gui Lan KONG ; Bei Yan BAO ; Lu Xia ZHANG
Chinese Journal of Epidemiology 2023;44(7):1046-1053
Objective: To assess the prevalence, risk factors and treatment of anemia in patients with chronic kidney disease (CKD). Methods: A descriptive method was used to analyze the prevalence and treatment of anemia in CKD patients based on regional health data in Yinzhou District of Ningbo during 2012-2018. The multivariate logistic regression analysis was used to identify independent influence factors of anemia in the CKD patients. Results: In 52 619 CKD patients, 15 639 suffered from by anemia (29.72%), in whom 5 461 were men (26.41%) and 10 178 were women (31.87%), and anemia prevalence was higher in women than in men, the difference was significant (P<0.001). The prevalence of anemia increased with stage of CKD (24.77% in stage 1 vs. 69.42% in stage 5, trend χ2 test P<0.001). Multivariate logistic regression analysis revealed that being women (aOR=1.57, 95%CI: 1.50-1.63), CKD stage (stage 2: aOR=1.10, 95%CI: 1.04-1.16;stage 3: aOR=2.28,95%CI: 2.12-2.44;stage 4: aOR=4.49,95%CI :3.79-5.32;stage 5: aOR=6.31,95%CI: 4.74-8.39), age (18-30 years old: aOR=2.40,95%CI: 2.24-2.57, 61-75 years old: aOR=1.35,95%CI:1.28-1.42, ≥76 years old: aOR=2.37,95%CI:2.20-2.55), BMI (<18.5 kg/m2:aOR=1.29,95%CI: 1.18-1.41;23.0-24.9 kg/m2:aOR=0.79,95%CI: 0.75-0.83;≥25.0 kg/m2:aOR=0.70,95%CI: 0.66-0.74), abdominal obesity (aOR=0.91, 95%CI: 0.86-0.96), chronic obstructive pulmonary disease (aOR=1.15, 95%CI: 1.09-1.22), cancer (aOR=3.03, 95%CI: 2.84-3.23), heart failure (aOR=1.44, 95%CI: 1.35-1.54) and myocardial infarction (aOR=1.54, 95%CI:1.16-2.04) were independent risk factors of anemia in CKD patients. Among stage 3-5 CKD patients with anemia, 12.03% received iron therapy, and 4.78% received treatment with erythropoiesis-stimulating agent (ESA) within 12 months after anemia was diagnosed. Conclusions: The prevalence of anemia in CKD patients was high in Yinzhou. However, the treatment rate of iron therapy and ESA were low. More attention should be paid to the anemia management and treatment in CKD patients.
7.Role of circTmeff-1 in morphine addiction memory of mice
Hailei YU ; Boyang WEN ; Yun LU ; Bing XIE ; Feng YU ; Minglong ZHANG ; Chunling MA ; Bin CONG ; Di WEN ; Haitao BI
Chinese Journal of Pharmacology and Toxicology 2023;37(7):539-540
In addition to the essential pharmacologi-cal effects of opioids,situational cues associated with drug addiction memory are key triggers for drug seeking.CircRNAs,an emerging hotspot regulator in crown genet-ics-play an important role in central nervous system-relat-ed diseases.However,the internal mediating mechanism of circRNA in the field of drug reward and addiction mem-ory remains unknown.Here,we trained mice on a condi-tional place preference(CPP)model and collected nucle-us accumbens(NAc)tissues from day 1(T0)and day 8(T1)for high-throughput RNA sequencing.qRT-PCR revealed that circTmeff-1 was highly expressed in the NAc core but not in the NAc shell,suggesting that it plays a role in addiction memory formation.Meanwhile,the reverse regulation of circTmeff-1 by adeno-associated viruses could both inhibit the formation of addiction mem-ory in the NAc core or shell.Subsequently,the GO and KEGG analyses indicated 21 that circTmeff-1 might regu-late the addiction memory via the MAPK and AMPK path-ways.These findings suggest that circTmeff-1 in NAc plays a crucial role in morphine-dependent memory for-mation.
8.Comparison of clinical efficacy between percutaneous endoscopic transforaminal discectomy and coblation nucleoplasty in the treatment of inclusive lumbar disc herniation.
Lu-Yao HUO ; Da-Wei YU ; Tian-Xiao FENG ; Bi-Feng FU ; Chao ZHANG ; Jin SU ; Yuan-Dong LI ; Guang YANG ; Ping WANG
China Journal of Orthopaedics and Traumatology 2023;36(1):17-24
OBJECTIVE:
To observe clinical efficacy of percutaneous endoscopic transforaminal discectomy (PETD) and target radioffrequency thermal coblation nucleoplasty(CN) on inclusive lumbar disc herniation(LDH) in different age groups, and provide a basis for clinical formulation of precise and individualized treatments.
METHODS:
A retrospective analysis of 219 patients with lumbar disc herniation treated with PETD and CN between January 2018 and June 2021 was performed, in which 107 patients were treated with PETD and 112 with CN. Patients were stratified by age into young group(≤45 years old), middle-aged group(>45 years old and <60 years old) and older group(≥60 years old). Before treatment, 3 days, 1 month and 6 months after treatment, visual analogue scale (VAS), Japanese Orthopaedic Association (JOA) score, infrared thermal imaging temperature difference (△T) and lumbar range of motion (ROM) were evaluated and clinical efficacy were compared in the different age groups between two treatment methods.
RESULTS:
①VAS and JOA score outcomes, in the same age group and the same treatment method, the VAS and JOA scores at different time points postoperatively were obviously improved (P<0.05). For the same age group and the different treatment methods, the older group had lower VAS and higher JOA scores after PETD than after CN (P<0.05), and there was no significant difference between the young group and middle-aged group (P>0.05). There was no significant difference in VAS and JOA scores at the same time between age groups by PETD treatment (P>0.05). The VAS was higher and the JOA score was lower in older group than in young group and middle-aged group at 1, 6 months after CN treatment(P<0.05). ②△T and ROM outcomes, in the same age group and same treatment method, postoperative △T and ROM at different time points were obviously improved(P<0.05). There was no significant difference in △T between two methods of PETD and CN at the same age(P>0.05), there was no significant difference in ROM between young group and middle-aged group(P>0.05), ROM was higher after PETD treatment than after CN treatment(P<0.05). There was no significant difference in △T and ROM at the same time between age groups by PETD treatment(P>0.05). There was no significant difference in △T between age groups by CN treatment, but the ROM was smaller in older group than in young group and middle-aged group after CN treatment(P<0.05).
CONCLUSION
Both PETD and CN for inclusive LDH have good efficacy, the curative benefit for older patients receiving PETD within 6 months after surgery more than CN, and CN is more appropriate for young and middle-aged patients.
Middle Aged
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Humans
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Aged
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Intervertebral Disc Displacement/surgery*
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Retrospective Studies
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Lumbar Vertebrae/surgery*
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Diskectomy, Percutaneous/methods*
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Treatment Outcome
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Endoscopy/methods*
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Diskectomy/methods*
9.Effect of LncRNA GAPLINC on the Cell Proliferation of Rheumatoid Arthritis Fibroblast-like Synoviocytes
Bi-yao MO ; Lu XIAO ; Yu-wei ZHAN ; Yang YANG ; Li LIU ; Shu-dian LIN
Journal of Sun Yat-sen University(Medical Sciences) 2023;44(5):792-800
ObjectiveTo investigate the effect of LncRNA GAPLINC on the cell proliferation of RA-FLSs. MethodsRA-FLSs were cultured from synovial specimens. The expression of LncRNA GAPLINC in RA-FLSs and trauma-FLSs groups was detected by qRCR. GAPLINC suppression was transfected by siRNA and the inhibition efficiency was detected by qRCR. Flow cytometry was adopted to determine the change of cell growth and cell cycle distribution. 【ResμLts】 The expression of LncRNA GAPLINC was significantly higher in RA-FLSs than that of the trauma-FLSs (P<0.05).Transfection of GAPLINC-siRNA significantly decreased the expression of LncRNA GAPLINC. GAPLINC silence in RA-FLSs revealed significant inhibition in cell proliferation which was showed by the reduced cell number in S phase(P<0.05). Moreover, flow cytometry assay showed GAPIINC-siRNA treatment group had an accumμLation of cells in the G0/G1 phase and decreased RA-FLSs in the S and G2/M phase(P<0.05). After GAPLINC knockdown, mRNA and protein levels of Cyclin D1 and PCNA, which were positively correlated with proliferative phenotype, were decreased (P<0.05), while p21, which was negatively correlated with proliferative phenotype, was up-regμLated (P<0.05). ConclusionsThe mRNA expression of GAPLINC was higher in RA-FLSs compared with trauma-FLSs ,which was statistically significant(P<0.05). The silence of LncRNA GAPLINC coμLd significantly inhibit RA-FLSs cell growth and suppress the cell cycle transformation, which suggests that GAPLINC may play a role in the regμLation of proliferation of RA-FLSs, leading to synovial hyperplasia and contributing to RA progression.
10.Dissecting Causal Relationships Between Gut Microbiota, Blood Metabolites, and Stroke: A Mendelian Randomization Study
Qi WANG ; Huajie DAI ; Tianzhichao HOU ; Yanan HOU ; Tiange WANG ; Hong LIN ; Zhiyun ZHAO ; Mian LI ; Ruizhi ZHENG ; Shuangyuan WANG ; Jieli LU ; Yu XU ; Ruixin LIU ; Guang NING ; Weiqing WANG ; Yufang BI ; Jie ZHENG ; Min XU
Journal of Stroke 2023;25(3):350-360
Background:
and Purpose We investigated the causal relationships between the gut microbiota (GM), stroke, and potential metabolite mediators using Mendelian randomization (MR).
Methods:
We leveraged the summary statistics of GM (n=18,340 in the MiBioGen consortium), blood metabolites (n=115,078 in the UK Biobank), and stroke (cases n=60,176 and controls n=1,310,725 in the Global Biobank Meta-Analysis Initiative) from the largest genome-wide association studies to date. We performed bidirectional MR analyses to explore the causal relationships between the GM and stroke, and two mediation analyses, two-step MR and multivariable MR, to discover potential mediating metabolites.
Results:
Ten taxa were causally associated with stroke, and stroke led to changes in 27 taxa. In the two-step MR, Bifidobacteriales order, Bifidobacteriaceae family, Desulfovibrio genus, apolipoprotein A1 (ApoA1), phospholipids in high-density lipoprotein (HDL_PL), and the ratio of apolipoprotein B to ApoA1 (ApoB/ApoA1) were causally associated with stroke (all P<0.044). The causal associations between Bifidobacteriales order, Bifidobacteriaceae family and stroke were validated using the weighted median method in an independent cohort. The three GM taxa were all positively associated with ApoA1 and HDL_PL, whereas Desulfovibrio genus was negatively associated with ApoB/ApoA1 (all P<0.010). Additionally, the causal associations between the three GM taxa and ApoA1 remained significant after correcting for the false discovery rate (all q-values <0.027). Multivariable MR showed that the associations between Bifidobacteriales order, Bifidobacteriaceae family and stroke were mediated by ApoA1 and HDL_PL, each accounting for 6.5% (P=0.028) and 4.6% (P=0.033); the association between Desulfovibrio genus and stroke was mediated by ApoA1, HDL_PL, and ApoB/ApoA1, with mediated proportions of 7.6% (P=0.019), 4.2% (P=0.035), and 9.1% (P=0.013), respectively.
Conclusion
The current MR study provides evidence supporting the causal relationships between several specific GM taxa and stroke and potential mediating metabolites.

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