1.Military cross-cutting symptom scale and its reliability and validity
Xiaoliang WEI ; Tao ZHANG ; Kaitian SHI ; Yi ZHANG ; Yonghai BAI ; Taosheng LIU
Academic Journal of Naval Medical University 2025;46(6):817-823
Objective To develop a military cross-cultural symptom scale(MCCSS)and evaluate its reliability and validity.Methods The dimensions and items of the scale were determined through literature analysis,questionnaire surveys,group discussions,expert consultations,and pre-experiments.Cluster sampling was employed to collect data from the participants to examine the psychometric properties of the scale.Results The MCCSS comprised 38 items across 9 factors:depression,anxiety,somatic symptoms,misanthropic tendency,sleep problems,compulsions,psychotic symptoms,stress trauma,and defensiveness.Item analysis revealed that the 37 items(except 1 forced-choice item)exhibited correlations from 0.538 to 0.875 with the total scale score(all P<0.01),with critical ratios ranging from 5.190 to 28.149,indicating good discriminative power.The Cronbach's α coefficients for the total scale and subscales ranged from 0.825 to 0.972,and the Spearman-Brown split-half reliability coefficients ranged from 0.747 to 0.955.The results of confirmatory factor analysis showed that x2/df=3.419,standardized root mean square residual=0.033,root mean square error of approximation=0.073,normed fit index=0.868,incremental fit index=0.903,Tucker-Lewis index=0.887,comparative fit index=0.902,and the scale's first-order 9-factor model fit well.The loads of each item on the factor to which it belonged ranged from 0.597 to 0.954(all P<0.01).The correlation coefficients between the scale and the scale for criterion-related validity ranged from 0.392 to 0.773(all P<0.01),and the correlation coefficients between the scale and the scale for convergent validity ranged from 0.257 to 0.519(all P<0.01).Conclusion The MCCSS in this study has good reliability and validity and can be used as a mental health testing and screening tool for military personnel.
2.Baicalein inhibits proliferation,migration and invasion of human pancre-atic cancer Aspc-1 and Bxpc-3 cells via AKT/β-catenin signaling pathway
Xiaoliang CHEN ; Qiong WANG ; Lin TANG ; Lili YIN ; Jinsheng YU ; Yun-feng BAI ; Yi QIN ; Feng FENG
Chinese Journal of Pathophysiology 2025;41(9):1738-1747
AIM:To investigate the antitumor activity and targets of baicalein(Bai)in pancreatic cancer using network pharmacology combined with in vitro and in vivo experiments.METHODS:The targets of Bai and pancreatic can-cer were analyzed via multi-data screening.A protein-protein interaction network was constructed using STRING,and core targets were identified via Cytoscape.Functional enrichment was analyzed by Gene Ontology(GO)and Kyoto Ency-clopedia of Genes and Genomes(KEGG).Antitumor effects of Bai were assessed in pancreatic cancer cells Aspc-1 and Bxpc-3 using MTT and colony formation assays for proliferation,flow cytometry for apoptosis and cell cycle analysis,and Transwell assays for migration and invasion.A xenograft tumor model was established to evaluate tumor proliferation,im-munohistochemistry was performed to detect the protein expression of AKT in tumor tissues,and Western blot was used to analyze the expression levels of AKT,β-catenin,N-cadherin and Slug.RESULTS:A total of 108 overlapping targets were identified between Bai and pancreatic cancer.Among these,7 core targets were recognized,including proto-onco-gene tyrosine-protein kinase Src,heat shock protein 90 alpha family class A member 1(HSP90AA1),estrogen receptor 1(ESR1),tumor protein p53(TP53),epidermal growth factor receptor(EGFR),AKT1,and mitogen-activated protein ki-nase 3(MAPK3).The GO analysis revealed significant enrichment in oxidative stress response,protein phosphorylation,and serine/threonine kinase activity.The KEGG analysis primarily enriched the PI3K/AKT,MAPK and Ras signaling pathways.The MTT and colony formation assays showed that Bai inhibited the viability of Aspc-1 and Bxpc-3 cells in a dose-dependent manner(72 h IC50 values were 73.6 μmol/L and 83.4 μmol/L,respectively)and reduced cell colony for-mation(P<0.05 or P<0.01).Flow cytometry confirmed that Bai induced apoptosis of Aspc-1 and Bxpc-3 cells(P<0.01)and blocked the cell cycle at the G0/G1 phase(P<0.05 or P<0.01).Transwell experiments indicated that Bai inhibited the migration and invasion of Aspc-1 and Bxpc-3 cells(P<0.05 or P<0.01).In vivo,Bai significantly inhibited the growth of Aspc-1 cell xenograft tumors(P<0.01).Immunohistochemistry revealed a significant reduction in AKT expression in tu-mor tissues(P<0.01),and Western blot showed decreased expression of AKT,β-catenin,N-cadherin and Slug in both Aspc-1 and Bxpc-3 cells(P<0.01).CONCLUSION:Baicalein inhibits pancreatic cancer cell proliferation,migration,and invasion,potentially through down-regulation of AKT,β-catenin,N-cadherin,and Slug expression.
3.Baicalein inhibits proliferation,migration and invasion of human pancre-atic cancer Aspc-1 and Bxpc-3 cells via AKT/β-catenin signaling pathway
Xiaoliang CHEN ; Qiong WANG ; Lin TANG ; Lili YIN ; Jinsheng YU ; Yun-feng BAI ; Yi QIN ; Feng FENG
Chinese Journal of Pathophysiology 2025;41(9):1738-1747
AIM:To investigate the antitumor activity and targets of baicalein(Bai)in pancreatic cancer using network pharmacology combined with in vitro and in vivo experiments.METHODS:The targets of Bai and pancreatic can-cer were analyzed via multi-data screening.A protein-protein interaction network was constructed using STRING,and core targets were identified via Cytoscape.Functional enrichment was analyzed by Gene Ontology(GO)and Kyoto Ency-clopedia of Genes and Genomes(KEGG).Antitumor effects of Bai were assessed in pancreatic cancer cells Aspc-1 and Bxpc-3 using MTT and colony formation assays for proliferation,flow cytometry for apoptosis and cell cycle analysis,and Transwell assays for migration and invasion.A xenograft tumor model was established to evaluate tumor proliferation,im-munohistochemistry was performed to detect the protein expression of AKT in tumor tissues,and Western blot was used to analyze the expression levels of AKT,β-catenin,N-cadherin and Slug.RESULTS:A total of 108 overlapping targets were identified between Bai and pancreatic cancer.Among these,7 core targets were recognized,including proto-onco-gene tyrosine-protein kinase Src,heat shock protein 90 alpha family class A member 1(HSP90AA1),estrogen receptor 1(ESR1),tumor protein p53(TP53),epidermal growth factor receptor(EGFR),AKT1,and mitogen-activated protein ki-nase 3(MAPK3).The GO analysis revealed significant enrichment in oxidative stress response,protein phosphorylation,and serine/threonine kinase activity.The KEGG analysis primarily enriched the PI3K/AKT,MAPK and Ras signaling pathways.The MTT and colony formation assays showed that Bai inhibited the viability of Aspc-1 and Bxpc-3 cells in a dose-dependent manner(72 h IC50 values were 73.6 μmol/L and 83.4 μmol/L,respectively)and reduced cell colony for-mation(P<0.05 or P<0.01).Flow cytometry confirmed that Bai induced apoptosis of Aspc-1 and Bxpc-3 cells(P<0.01)and blocked the cell cycle at the G0/G1 phase(P<0.05 or P<0.01).Transwell experiments indicated that Bai inhibited the migration and invasion of Aspc-1 and Bxpc-3 cells(P<0.05 or P<0.01).In vivo,Bai significantly inhibited the growth of Aspc-1 cell xenograft tumors(P<0.01).Immunohistochemistry revealed a significant reduction in AKT expression in tu-mor tissues(P<0.01),and Western blot showed decreased expression of AKT,β-catenin,N-cadherin and Slug in both Aspc-1 and Bxpc-3 cells(P<0.01).CONCLUSION:Baicalein inhibits pancreatic cancer cell proliferation,migration,and invasion,potentially through down-regulation of AKT,β-catenin,N-cadherin,and Slug expression.
4.A national questionnaire survey on endoscopic treatment for gastroesophageal varices in portal hypertension in China
Xing WANG ; Bing HU ; Yiling LI ; Zhijie FENG ; Yanjing GAO ; Zhining FAN ; Feng JI ; Bingrong LIU ; Jinhai WANG ; Wenhui ZHANG ; Tong DANG ; Hong XU ; Derun KONG ; Lili YUAN ; Liangbi XU ; Shengjuan HU ; Liangzhi WEN ; Ping YAO ; Yunxiao LIANG ; Xiaodong ZHOU ; Huiling XIANG ; Xiaowei LIU ; Xiaoquan HUANG ; Yinglei MIAO ; Xiaoliang ZHU ; De'an TIAN ; Feihu BAI ; Jitao SONG ; Ligang CHEN ; Yingcai MA ; Yifei HUANG ; Bin WU ; Xiaolong QI
Chinese Journal of Digestive Endoscopy 2024;41(1):43-51
Objective:To investigate the current status of endoscopic treatment for gastroesophageal varices in portal hypertension in China, and to provide supporting data and reference for the development of endoscopic treatment.Methods:In this study, initiated by the Liver Health Consortium in China (CHESS), a questionnaire was designed and distributed online to investigate the basic condition of endoscopic treatment for gastroesophageal varices in portal hypertension in 2022 in China. Questions included annual number and indication of endoscopic procedures, adherence to guideline for preventing esophagogastric variceal bleeding (EGVB), management and timing of emergent EGVB, management of gastric and isolated varices, and improvement of endoscopic treatment. Proportions of hospitals concerning therapeutic choices to all participant hospitals were calculated. Guideline adherence between secondary and tertiary hospitals were compared by using Chi-square test.Results:A total of 836 hospitals from 31 provinces (anotomous regions and municipalities) participated in the survey. According to the survey, the control of acute EGVB (49.3%, 412/836) and the prevention of recurrent bleeding (38.3%, 320/836) were major indications of endoscopic treatment. For primary [non-selective β-blocker (NSBB) or endoscopic therapies] and secondary prophylaxis (NSBB and endoscopic therapies) of EGVB, adherence to domestic guideline was 72.5% (606/836) and 39.2% (328/836), respectively. There were significant differences in the adherence between secondary and tertiary hospitals in primary prophylaxis of EGVB [71.0% (495/697) VS 79.9% (111/139), χ2=4.11, P=0.033] and secondary prophylaxis of EGVB [41.6% (290/697) VS 27.3% (38/139), χ2=9.31, P=0.002]. A total of 78.2% (654/836) hospitals preferred endoscopic therapies treating acute EGVB, and endoscopic therapy was more likely to be the first choice for treating acute EGVB in tertiary hospitals (82.6%, 576/697) than secondary hospitals [56.1% (78/139), χ2=46.33, P<0.001]. The optimal timing was usually within 12 hours (48.5%, 317/654) and 12-24 hours (36.9%, 241/654) after the bleeding. Regarding the management of gastroesophageal varices type 2 and isolated gastric varices type 1, most hospitals used cyanoacrylate injection in combination with sclerotherapy [48.2% (403/836) and 29.9% (250/836), respectively], but substantial proportions of hospitals preferred clip-assisted therapies [12.4% (104/836) and 26.4% (221/836), respectively]. Improving the skills of endoscopic doctors (84.2%, 704/836), and enhancing the precision of pre-procedure evaluation and quality of multidisciplinary team (78.9%, 660/836) were considered urgent needs in the development of endoscopic treatment. Conclusion:A variety of endoscopic treatments for gastroesophageal varices in portal hypertension are implemented nationwide. Participant hospitals are active to perform emergent endoscopy for acute EGVB, but are inadequate in following recommendations regarding primary and secondary prophylaxis of EGVB. Moreover, the selection of endoscopic procedures for gastric varices differs greatly among hospitals.
5.Investigation and analysis of the mental health of naval officers and soldiers
Xiaoliang WEI ; Yonghai BAI ; Pan REN ; Kaitian SHI ; Yi ZHANG ; Taosheng LIU
Journal of Navy Medicine 2024;45(4):376-381
Objective To investigate the mental health and influencing factors of naval officers and soldiers,and provide data support for formulating effective psychological intervention measures.Methods The 12-item general health questionnaire(GHQ-12)was used to conduct a sample survey among 5 336 naval officers and soldiers from October to November 2021.SPSS 26.0 software,chi-square test and regression analysis were used for descriptive statistics.Results A total of 5 102(95.61%)valid questionnaires were collected.The average GHQ-12 score was 0.55±1.18,and the proportion of high-risk individuals for mental health was 3.06%.Chi-square test showed that there were significant differences in the distribution of mental health status among interviewees with different ages,education levels,marriage status,family economy,family relationship,growing family,history of mental diseases among close relatives,major changes encountered during growth,hobbies and specialties,recent work pressure and recent interpersonal relationship(P≤0.001).Regression analysis showed that age(P=0.006),family relationship(P<0.001),family economy(P=0.010),major changes encountered during growth(P<0.001),recent work stress(P<0.001)and recent interpersonal relationship(P<0.001)were main influencing factors for mental health of naval officers and soldiers.Conclusion The mental health of naval officers and soldiers was generally good,but some individuals still have mental health problems,which are affected by many factors.It is necessary to pay more attention to the mental health problems caused by their age,education,family,growth experience,stress and interpersonal relationship.
6.Safety of high-carbohydrate fluid diet 2 h versus overnight fasting before non-emergency endoscopic retrograde cholangiopancreatography: A single-blind, multicenter, randomized controlled trial
Wenbo MENG ; W. Joseph LEUNG ; Zhenyu WANG ; Qiyong LI ; Leida ZHANG ; Kai ZHANG ; Xuefeng WANG ; Meng WANG ; Qi WANG ; Yingmei SHAO ; Jijun ZHANG ; Ping YUE ; Lei ZHANG ; Kexiang ZHU ; Xiaoliang ZHU ; Hui ZHANG ; Senlin HOU ; Kailin CAI ; Hao SUN ; Ping XUE ; Wei LIU ; Haiping WANG ; Li ZHANG ; Songming DING ; Zhiqing YANG ; Ming ZHANG ; Hao WENG ; Qingyuan WU ; Bendong CHEN ; Tiemin JIANG ; Yingkai WANG ; Lichao ZHANG ; Ke WU ; Xue YANG ; Zilong WEN ; Chun LIU ; Long MIAO ; Zhengfeng WANG ; Jiajia LI ; Xiaowen YAN ; Fangzhao WANG ; Lingen ZHANG ; Mingzhen BAI ; Ningning MI ; Xianzhuo ZHANG ; Wence ZHOU ; Jinqiu YUAN ; Azumi SUZUKI ; Kiyohito TANAKA ; Jiankang LIU ; Ula NUR ; Elisabete WEIDERPASS ; Xun LI
Chinese Medical Journal 2024;137(12):1437-1446
Background::Although overnight fasting is recommended prior to endoscopic retrograde cholangiopancreatography (ERCP), the benefits and safety of high-carbohydrate fluid diet (CFD) intake 2 h before ERCP remain unclear. This study aimed to analyze whether high-CFD intake 2 h before ERCP can be safe and accelerate patients’ recovery.Methods::This prospective, multicenter, randomized controlled trial involved 15 tertiary ERCP centers. A total of 1330 patients were randomized into CFD group ( n = 665) and fasting group ( n = 665). The CFD group received 400 mL of maltodextrin orally 2 h before ERCP, while the control group abstained from food/water overnight (>6 h) before ERCP. All ERCP procedures were performed using deep sedation with intravenous propofol. The investigators were blinded but not the patients. The primary outcomes included postoperative fatigue and abdominal pain score, and the secondary outcomes included complications and changes in metabolic indicators. The outcomes were analyzed according to a modified intention-to-treat principle. Results::The post-ERCP fatigue scores were significantly lower at 4 h (4.1 ± 2.6 vs. 4.8 ± 2.8, t = 4.23, P <0.001) and 20 h (2.4 ± 2.1 vs. 3.4 ± 2.4, t= 7.94, P <0.001) in the CFD group, with least-squares mean differences of 0.48 (95% confidence interval [CI]: 0.26–0.71, P <0.001) and 0.76 (95% CI: 0.57–0.95, P <0.001), respectively. The 4-h pain scores (2.1 ± 1.7 vs. 2.2 ± 1.7, t = 2.60, P = 0.009, with a least-squares mean difference of 0.21 [95% CI: 0.05–0.37]) and positive urine ketone levels (7.7% [39/509] vs. 15.4% [82/533], χ2 = 15.13, P <0.001) were lower in the CFD group. The CFD group had significantly less cholangitis (2.1% [13/634] vs. 4.0% [26/658], χ2 = 3.99, P = 0.046) but not pancreatitis (5.5% [35/634] vs. 6.5% [43/658], χ2 = 0.59, P = 0.444). Subgroup analysis revealed that CFD reduced the incidence of complications in patients with native papilla (odds ratio [OR]: 0.61, 95% CI: 0.39–0.95, P = 0.028) in the multivariable models. Conclusion::Ingesting 400 mL of CFD 2 h before ERCP is safe, with a reduction in post-ERCP fatigue, abdominal pain, and cholangitis during recovery.Trail Registration::ClinicalTrials.gov, No. NCT03075280.
7.Study on the individualized dose verification of patients with CyberKnife treatment based on dose verification system of SRS MapCHECK matrix
Hanshun GONG ; Shanshan GU ; Shaojuan WU ; Jinglin SUN ; Pengfei XU ; Xiaoliang LIU ; Jingmin BAI ; Chuanbin XIE
China Medical Equipment 2024;21(7):17-22
Objective:A dose verification system of two-dimensional semiconductor matrix(SRS MapCHECK)was used to verify the dose of the clinical treatment plan of patients who underwent CyberKnife(CK),which realized rapid verification for individualization of radiotherapy plans of patients through analyzed the γ-passing rates of them.Methods:A total of 253 patients with tumor who received CK clinical treatment in the First Medical Center of Chinese PLA General Hospital from March 2021 to May 2023 were selected.Among of them,121 cases received CK treatment on head,and 30 cases received that on lung,and 102 cases received CK treatment on abdomen and other metastatic tumor.In the MultiPlan treatment plan system,the plan of patient was mapped to the integrated model composed of StereoPHAN model and SRS MapCHECK matrix dose verification system by the means of the plan image center overlap.The dose verification was conducted on the plan of each patient on the basis of ensuring the consistency of the number of beam,direction of beam and the monitor unit.The different γ analysis standards(1%/1 mm,2%/1 mm,3%/1 mm,1%/2 mm,2%/2 mm,3%/2 mm,1%/3 mm,2%/3 mm and 3%/3 mm)were adopted to conduct global analysis of absolute dose for each verification plan,and the threshold(TH)of low dose was set as 10%.Results:The γ passing rates of phantom verification plans of 253 patients were respectively(88.64±5.91)%,(95.43±3.40)%,(97.90±2.06)%,(96.51±2.35)%,(98.15±1.68)%,(99.06±1.12)%,(98.30±1.39)%,(99.09±0.97)%and(99.52±0.63)%under different analysis standards.The γ passing rates of other standards of patients with tumor on different parts were larger than 95%except the analysis result of 1%1 mm standard.The overall analysis result of the deviation of central point dose was(-1.30±2.17)%,among of which the tumor of head,abdominal tumors and other metastatic tumor were about approximately-2%,while that of lung tumors were approximately-3%.The deviation of abdominal and other metastatic tumor was the minimum.The correlation analysis showed that the target volume and the size of the minimum collimator were respectively correlated to the dose deviation of the center.Conclusion:SRS MapCHECK dose verification system can conveniently and quickly realize the individualized verification for the plan of patients who receive CK treatment.
8.Exploration of cognitive inhibitory function in negation and color-word Stroop task of patients with schizophrenia
Qiangwei YU ; Zhihua GAO ; Xiaoliang LIANG ; Shenghang HOU ; Yang BAI
Chinese Journal of Behavioral Medicine and Brain Science 2023;32(10):915-922
Objective:To explore the impact of negation effect on color judgment of the color-word pairs and the impairment of cognitive inhibition function of the patients with schizophrenia (SCH) through embedding negation into the Stroop task.Methods:From January to December 2021, " Affirmative/ negative + color words" as the experimental materials, classical Stroop paradigm as the experimental paradigm, a mixed experimental design of 2 (groups: the SCH group vs the normal control group)×2(phrase polarity: affirmative phrases vs negative phrases)×2 (word-color congruence: consistency vs inconsistency) was designed to explore the inhibition function of negative phrases of the SCHs under bipolar negation conditions (Experiment 1) and multi-polar negation conditions (Experiment 2) respectively. The schizophrenic patients in Experiment 1(28 patients and 28 normal controls) and Experiment 2(30 patients and 30 normal controls) were sampled from the inpatients of Tangshan Kailuan Mental Health Center and Suzhou Guangji Hospital respectively, and the healthy controls were recruited from the community. SPSS 25.0 software was adopted as statistical analysis, and accuracy, response time of Stroop and the Stroop effect were analyzed by repeated measurement analysis of variance. Results:(1) The group main effects of response time were both significant in bipolar negation conditions(Experiment 1) ( F=49.22, P<0.001, ηp2=0.48) and multi-polar negation conditions (Experiment 2) ( F=37.58, P<0.001, ηp2=0.39). In bipolar negation (Experiment 1) conditions, as for the Stroop effect of response time, there was a significant interaction between the groups and polarities( F=4.42, P<0.05, ηp2=0.08), and there was a statistically significant difference between the affirmative Stroop effect (-0.137±0.522)and the negative Stroop effect(0.082±0.169) in the schizophrenia group( F=7.15, P<0.05, ηp2=0.12). In multi-polar negation conditions (Experiment 2), there was a marginal significant of the interaction between Stroop conditions and polarities in accuracy( F=3.81, P=0.056, ηp2=0.06). The accuracy under the word color consistency condition was higher than that under inconsistency condition((96.51±1.55)%, (90.00±2.54)%) ( F=5.15, P<0.05, ηp2=0.08). (3)In bipolar negation (Experiment 1) conditions, as for the accuracy, the interaction among groups, word color consistencies, and polarities was significant( F=6.66, P<0.05, ηp2=0.11). The interaction between word color consistencies and polarities was significant in the schizophrenia group( F=9.16, P<0.05, ηp2=0.15). In the normal group, the interaction between Stroop conditions and polarities was not significant( P>0.05). Conclusion:The impairment of cognitive inhibition function in schizophrenia is severe, which is reflected in negative processing; negation functions as cognitive inhibition, which is particularly prominent in bipolar negation.
9.Relationship of body mass index and blood pressure with diabetes: a nested case-control study
Rui ZHANG ; Desheng ZHANG ; Ruonan WANG ; Chun YIN ; Zhao BAI ; Wenya HUANG ; Jingli YANG ; Peiyao HUANG ; Nian LIU ; Xiaoliang CHEN ; Yufeng WANG ; Ning CHENG ; Yana BAI
Chinese Journal of Epidemiology 2021;42(4):662-667
Objective:To explore the relationship of body mass index and blood pressure with the incidence of diabetes in Jinchang cohort.Methods:We designed a nested case-control study, a total of 29 572 workers who had no history of diabetes in baseline survey in Jinchang cohort were selected as the study cohort from June 2011 to December 2013. After 2 year follow-up, 1 021 workers with first diagnosed diabetes were selected as the case group, after 1∶1 matching according to the same gender and age ±2 years among those without diabetes, circulatory system, or endocrine system diseases during the same follow-up period, 1 021 controls was selected and 2 042 subjects were finally included. We used multivariate conditional logistic regression model, additive interaction model and multiplicative interaction model to explore the relationship of body mass index and blood pressure with the incidence of diabetes.Results:After adjusting for factors such as occupation, alcohol use, family history of diabetes, hyperuricemia, hypercholesterolemia, hypertriglyceridemia, low-HDL cholesterolemia and high-LDL cholesterolemia, multivariate conditional logistic regression analysis showed that the risk of diabetes increased with body mass index and blood pressure. Hypertension and overweight/obesity had a multiplicative interaction on the incidence of diabetes. The risks of diabetes in men and women with hypertension and overweight/obese were 2.04 times (95% CI: 1.54-2.69) and 3.88 times (95% CI: 2.55-5.91) higher than those in men and women with normal body weight and blood pressure, respectively. In the combination of BMI and blood pressure, obese individuals with SBP≥160 mmHg were 4.57 times (95% CI: 2.50-8.34) more likely to have diabetes than those with normal BMI and SBP, obese individuals with DBP≥90 mmHg were 3.40 times (95% CI: 2.19-5.28) more likely to have diabetes than those with normal BMI and DBP. Conclusions:Overweight/obesity and hypertension can increase the risk of diabetes. Health education about body weight and blood pressure controls should be strengthened to reduce the risk of diabetes.
10.A case of SIFD syndrome caused by novel compound heterozygous variants of TRNT1 gene.
Juanjuan WANG ; Xiaoliang HE ; Denghuan CHEN ; Shouwei HANG ; Yutong GAO ; Xu LI ; Kefei HU ; Chuanqing BAI ; Yuqing CHEN
Chinese Journal of Medical Genetics 2021;38(10):977-980
OBJECTIVE:
To detect variant of TRNT1 gene in a child featuring sideroblastic anemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD).
METHODS:
The proband and his parents were analyzed through trio-whole exome sequencing. Sanger sequencing and bioinformatic analysis were carried out to verify the candidate variant sites associated with the clinical phenotype.
RESULTS:
Genetic testing showed that the proband has carried compound heterozygous variants of the TRNT1 gene, namely c.88A>G(p.Met30Val) and c.363G>T(p.Glu121Asp). Sanger sequencing confirmed that the variants were respectively inherited from his father and mother. The variants were unreported previously. By bioinformatic analysis, both variants were predicted to affect the stability of binding of the TRNT1 protein with tRNA. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.88A>G and c.363G>T variants of TRNT1 gene were predicted to be uncertain significance (PM2+PP3+PP4) and likely pathogenic (PM1+PM2+PP3+PP4), respectively.
CONCLUSION
The c.88A>G (p.Met30Val) and c.363G>T(p.Glu121Asp) compound heterozygous variants of the TRNT1 gene probably underlay the disease in this patient. Above finding has enriched the spectrum of TRNT1 gene variants.
Genetic Testing
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Humans
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Nucleotidyltransferases

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