1.Analysis on constructing a risk prediction model for premature ovarian function failure in patients with uterine fibroids complicated with hypertension after surgery based on decision tree method
Dan WANG ; Zijuan ZHANG ; Huichun YANG ; Meili LIANG ; Lingzhi ZHENG
Chinese Journal of Endocrine Surgery 2023;17(3):323-326
Objective:The decision tree Chi-square automatic interactive detection (CHAID) algorithm and binary Logistic regression analysis were used to construct the risk prediction model of premature ovarian failure (POF) in patients with uterine fibroids complicated with hypertension after surgery, and the results of the risk prediction model were compared and analyzed.Methods:Patients with uterine fibroids complicated with hypertension admitted to Taizhou Hospital of Zhejiang Province from Jan. 2019 to Sep. 2022 were retrospectively analyzed as the research objects. CHAID algorithm and Logistic regression analysis were used to establish risk prediction models, respectively. The area under the curve (AUC) of receiver operating characteristic curve (ROC) was used to compare and evaluate the prediction effects of the two models.Results:A total of 860 patients were collected, including 56 patients with premature ovarian function failure after operation, and the incidence of premature ovarian function failure was 6.51%. CHAID method and Logistic regression analysis showed that uterine myoma surgery, hypertension, smoking or passive smoking, family history of premature ovarian failure, sleep status, physical exercise and history of induced curettage were important influencing factors of premature ovarian failure. The accuracy of risk prediction of decision tree model was 88.2%, and the fitting effect of the model was good. The Logistic regression model Hosmer-Leme-show goodness of fit test showed that the model fit was good. The AUC of Logistic regression model was 0.893 (95% CI: 0.862-0.899), and the AUC of decision tree model was 0.882 (95% CI: 0.856-0.899). The predictive value of the two models was moderate, and there was no significant difference between them ( Z=0.254, P>0.05) . Conclusions:The combination of decision tree and Logistic regression model can find the influencing factors of premature ovarian function failure in patients with uterine fibroids complicated with hypertension after operation from different levels, and the relationship between the factors can be more fully understood. The establishment of a risk model for premature ovarian function failure in patients with uterine fibroids complicated with hypertension after surgery can provide a reference for postoperative intervention in patients with uterine fibroids complicated with hypertension, and more effectively help patients actively prevent and slow down the occurrence and development of POF.
2.Clinical characteristics and genetic variant analysis of a child with Snijders Blok-Campeau syndrome.
Yuke LI ; Xiaona WANG ; Mengyuan LIU ; Yang GAO ; Baiyun CHEN ; Daoqi MEI ; Huichun ZHANG ; Chao GAO
Chinese Journal of Medical Genetics 2023;40(4):402-407
OBJECTIVE:
To analyze the clinical phenotype and genetic variant of a child with Snijders Blok-Campeau syndrome (SBCS).
METHODS:
A child who was diagnosed with SBCS in June 2017 at Henan Children's Hospital was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and the extraction of genomic DNA, which was subjected to trio-whole exome sequencing (trio-WES) and genome copy number variation (CNV) analysis. Candidate variant was verified by Sanger sequencing of his pedigree members.
RESULTS:
The main clinical manifestations of the child have included language delay, intellectual impairment and motor development delay, which were accompanied with facial dysmorphisms (broad forehead, inverted triangular face, sparse eyebrows, widely spaced eyes, narrow palpebral fissures, broad nose bridge, midface hypoplasia, thin upper lip, pointed jaw, low-set ears and posteriorly rotated ears). Trio-WES and Sanger sequencing revealed that the child has harbored a heterozygous splicing variant of the CHD3 gene, namely c.4073-2A>G, for which both of his parents were of wild-type. No pathogenic variant was identified by CNV testing.
CONCLUSION
The c.4073-2A>G splicing variant of the CHD3 gene probably underlay the SBCS in this patient.
DNA Copy Number Variations
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Heterozygote
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Pedigree
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Phenotype
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RNA Splicing
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Mutation
3.Compound heterozygous NDUFS1 variants identified in a Chinese pedigree affected with mitochondrial respiratory chain complex I deficiency.
Chao GAO ; Baiyun CHEN ; Yang GAO ; Huichun ZHANG ; Liye SHI ; Weimeng LI ; Haibei LI ; Jiaojiao HUANG
Chinese Journal of Medical Genetics 2021;38(3):247-250
OBJECTIVE:
To explore the genetic basis for a Chinese pedigree with suspected mitochondrial functional defects through combined next-generation sequencing (NGS), copy number variation sequencing (CNV-seq), and mitochondrial DNA (mtDNA) sequencing.
METHODS:
Clinical data of the proband and his family members were collected. The patient and his parents were subjected to family-trio whole-exome sequencing (WES), CNV-seq and mtDNA variant detection. Candidate variant was verified by Sanger sequencing.
RESULTS:
Trio-WES revealed that the proband has carried compound heterozygous variants of the NDUFS1 gene, including a paternally derived c.64C>T (p.R22X) nonsense variant and a maternally derived c.845A>G (p.N282S) missense variant. Both variants may cause loss of protein function. No variant that may cause the phenotype was identified by CNV-seq and mtDNA variant analysis.
CONCLUSION
Children with suspected mitochondrial disorders may have no specific syndromes or laboratory findings. A comprehensive strategy including mtDNA testing may facilitate the diagnosis and early clinical interventions.
Child
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China
;
DNA Copy Number Variations
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Electron Transport
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Humans
;
Mutation
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NADH Dehydrogenase/genetics*
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Pedigree
4.Radical versus conservative surgical treatment of liver hydatid cysts: a meta-analysis.
Qing PANG ; Hao JIN ; Zhongran MAN ; Yong WANG ; Song YANG ; Zongkuang LI ; Yimin LU ; Huichun LIU ; Lei ZHOU
Frontiers of Medicine 2018;12(3):350-359
To date, the efficacy of radical surgery (RS) versus conservative surgery (CS) for liver hydatid cysts (LHC) remains controversial. This meta-analysis was conducted to compare the two interventions. PubMed, Embase, and Web of Science were searched from their inceptions until June 2016. Meta-analysis was performed using STATA 12.0 software. We identified 19 eligible studies from 10 countries by retrieval. In total, 1853 LHC patients who received RS were compared with 2274 patients treated by CS. The risk of postoperative overall complication, biliary fistula, and recurrence was significantly lower, and operation time was significantly longer in the RS group. However, no statistically significant differences were found in terms of mortality risk and the duration of hospital stay between RS and CS. No significant publication biases were observed in all the above analyses. In conclusion, RS reduces the rates of postoperative complications and recurrence, whereas no trend toward such a reduction in mortality was observed in LHC patients.
Echinococcosis, Hepatic
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mortality
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surgery
;
Humans
;
Length of Stay
;
statistics & numerical data
;
Operative Time
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Postoperative Complications
;
epidemiology
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Recurrence
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Treatment Outcome
5.In vitro binding ability of transglutaminase 3 to dendritic cell-specific intercellular adhesion molecule 3-grabbing nonintegrin
Huichun SU ; Yang LUO ; Xiaochun LIU ; Yue HAN ; He WEN ; Xu YAO ; Baoxi WANG
Chinese Journal of Dermatology 2017;50(8):579-583
Objective To evaluate the recognition and uptake of transglutaminase 3 (TG3) by dendritic cell-specific intercellular adhesion molecule 3-grabbing nonintegrin (DC-SIGN) receptors on the membrane surface of DC-SIGN-transfected human embryonic kidney (HEK) 293T cells and monocytederived dendritic cells (MDDCs).Methods The eukaryotic expression vector pGCMV-enhanced green fluorescent protein (EGFP) containing DC-SIGN gene fragments was transfected into HEK293T cells to prepare DC-SIGN-EGFP-HEK293T cells by using liposome transfection method.CD14+ monocytes were isolated from peripheral blood samples by magnetic bead-based negative selection,and then were induced by granulocyte-macrophage colony stimulating factor (GM-CSF) and interleukin-4 (IL-4) to prepare MDDCs.Laser confocal microscopy and flow cytometry were performed to evaluate the recognition and uptake of TG3 protein by DC-SIGN receptors on the surface of HEK293T cells and MDDCs.MDDCs treated without Alexa Fluor 647 dye-tagged TG3 served as blank control group,and those treated with Alexa Fluor 647 dye alone served as negative control group.Results After co-culture with TG3 for 3 hours,laser confocal microscopy and flow cytometry both showed that TG3 could be recognized by and uptaken through DC-SIGN receptors into HEK293T cells and MDDCs.Flow cytometry also revealed that the binding of TG3 to MDDCs could be partially blocked by DC-SIGN blocking antibodies.Neither the negative control group nor the blank control group showed the recognition and binding of TG3 to HEK293T cells and MDDCs.Conclusion TG3 can serve as a kind of autoantigen to be recognized and bound by DC-SIGN receptors,followed by uptake by dendritic cells.
6.Relationship between the serum level of transglutaminase 2-specific IgE and disease condition in patients with atopic dermatitis
Huichun SU ; Jing SUN ; Yang LUO ; Yue HAN ; Xiaochun LIU ; Jingxi ZHANG ; He WEN ; Xu YAO ; Baoxi WANG
Chinese Journal of Dermatology 2017;50(7):508-511
Objective To detect the serum level of transglutaminase 2 (TG2)-specific IgE (slgE) in patients with atopic dermatitis (AD),and to analyze its correlation with the disease condition.Methods A total of 77 patients with AD were enrolled into this study,including 44 patients aged ≥ 12 years and 33 patients aged < 12 years.Of the 77 patients,20 were diagnosed with intrinsic AD,which was characterized by the absence of sIgE and total serum IgE values < 150 kU/L,and 49 with extrinsic AD characterized by positive (++) or even strongly positive slgE for more than 1 kind of exogenous allergens,or total serum lgE values ≥ 150 kU/L.[mmunocapture-biotinylated detector enzyme immunoassay was performed to detect the serum level of TG2-sIgE in 77 patients with AD,40 adult patients with psoriasis vulgaris (PV) and 30 healthy adult controls.Clinical data on the AD patients were recorded,including age,disease duration,SCORAD score,blood eosinophil count,levels of total IgE and TG2-sIgE.Results The serum levels of TG2-sIgE in AD patients aged ≥ 12 years,AD patients aged < 12 years,PV patients and healthy controls were 1.02 ± 0.2,1.04 ± 0.044,0.93 ± 0.25 and 0.71 ± 0.13,respectively.Additionally,the serum level of TG2-sIgE significantly differed among AD patients aged ≥ 12 years,PV patients and healthy controls (x2 =37.407,P < 0.001),and was significantly higher in both AD patients aged ≥ 12 years and PV patients than in the healthy controls (t =7.38,4.83,respectively,both P < 0.001).Moreover,the intrinsic AD group showed significantly higher TG2-sIgE levels compared with the extrinsic AD group (1.16 ± 0.03 vs.1.02 ± 0.20,t =2.27,P =0.02).The TG2-sIgE level was uncorrelated with the patients' age,disease duration,SCORAD score,blood eosinophil count or serum total IgE levels in AD patients (r =0.03,0.14,-0.04,-0.08,0.06,respectively,all P > 0.05).Conclusion The serum level of TG2-sIgE obviously increases in AD patients,so TG2 may be one kind of autoantigen in AD patients,but there is no significant correlation between the TG2-sIgE level and AD severity.
7.Attempted suicide risk factors in major depressive disorder patients with atypical features
Lin CHEN ; Zhenpeng JI ; Fude YANG ; Gang WANG ; Yiru FANG ; Zheng LU ; Haichen YANG ; Jian HU ; Zhiyu CHEN ; Yi HUANG ; Jing SUN ; Xiaoping WANG ; Huichun LI ; Jinbei ZHANG ; Tianmei SI
Chinese Journal of Nervous and Mental Diseases 2017;43(5):294-299
Objective To explore the attempted suicide risk factors of socio-demographic and clinical charac-teristics in major depressive disorder patients with atypical features (e.g. increased appetite, weight gain and greater time spent sleeping). Methods This was a secondary analysis of the data from the Diagnostic Assessment Service for People with Bipolar Disorders in China (DASP), which was initiated by the Chinese Society of Psychiatry (CSP) and carried out in 13 major mental health centers in China. Totally 179 patients were diagnosed as atypical major depres-sive disorder patients in all 1172 major depressive disorder patients using Diagnostic and Statistical Manual of Mental Disorder, Fourth Edition (DSM-Ⅳ) by psychiatrists. Suicide attempters and nonattempters were grouped base on the interview results of suicidality module of the Mini International Neuro-psychiatric Interview (MINI). Multiple logistic regression were used to assess association between independent variables and attempted suicide in major depressive disorder patients with atypical features. Results The rater of attempted snicide was 23.5% (42/179) of atypical major depressive disorder patients reported prior or current attempted suicide. Compared to nonattempters, attempters had higher levels of suicidal ideation, postpartum depressive episodes, and the use of antipsychotic, mood stabilizers and benzodiazepines (P<0.05). Logistic regression analysis showed that number of admissions (OR=1.73, 95% CI: 1.093~2.740) and depressive episodes with suicidal ideation (OR=3.90, 95%CI: 1.506~10.092) were significantly associat-ed with attempted suicide in atypical unipolar depression patients (P<0.05). Conclusions High number of admissions and high levels of suicidal ideation may be considered as potential risk factors to identify atypical unipolar depression patients at risk for future suicidal behavior.
8.Management of huge defects following extensive abdominal wall neoplasm resection: classification and immediate reconstruction
Jianjun YANG ; Zhicheng SONG ; Huichun WANG ; Zhiyuan ZHOU ; Haizhong HUO ; Dingquan GONG ; Yan GU
Chinese Journal of General Surgery 2016;31(9):728-731
Objective To evaluate the effect of extensive resection and immediate reconstruction based on classification of abdominal wall defects for patients with abdominal wall neoplasms.Methods From Jan 1999 to May 2016,112 patients with abdominal wall neoplasms were treated with extensive resection,including Type Ⅰ (n =20),Type Ⅱ (n =45) and Type Ⅲ (n =47).Immediate abdominal wall reconstruction comprised primary sutures or free skin graft for Type I defects,component separation (CST) with or without a prosthetic or biological mesh reinforcement for Type Ⅱ defects and pedicled or vascularized myocutaneous flap with or without a prosthetic or biological mesh or prosthetic + biological mesh with or without CST for Type Ⅲ defects.Results The average follow up was 76.86 ± 21.22 months,3 patients developed flap necrosis,9 patients suffered from wound infection.Local recurrence was observed in 20 patients,35 patients developed distant metastasis.Conclusions The optimal strategy based on the abdominal wall defect classification for immediate reconstruction of huge abdominal wall defects is safe and effective after resection of abdominal wall neoplasms.
9.Risk factors of suicidal attempt in major depressive disorder patients with anxious characteristics
Limin XIN ; Lin CHEN ; Fude YANG ; Suoyuan ZHANG ; Jun WANG ; Gang WANG ; Yiru FANG ; Zheng LU ; Haichen YANG ; Jian HU ; Zhiyu CHEN ; Yi HUANG ; Jing SUN ; Xiaoping WANG ; Huichun LI ; Jinbei ZHANG ; Tianmei SI
Chinese Journal of Nervous and Mental Diseases 2015;(10):613-617
Objective To analyze the risk factors of socio-demographic and clinical characteristics related to sui?cidal attempt in major depressive disorder (MDD) patients with anxious characteristics. Methods Based on the anxious module of Mini International Neuropsychiatric Interview (MINI), a total of 728 anxious MDD patients from 13 major men?tal health centers in China were classified as suicidal and non-suicidal attempt groups. Further analyses regarding risk factors of suicidal attempt in anxious MDD patients were performed by the multivariate logistic regression analysis. Re?sults Among the 728 patients with anxious MDD analyzed, 135 (18.5%) of them had suicidal attempt and 593 (81.5%) had non-suicidal attempt. Compared to the non-suicidal attempt group, patients with suicidal attempt had significantly earlier age onset[(32.3 ± 11.9) vs. (35.3 ± 13.1)], more lifetime depression episodes (median:2 vs. 2), more number of ad?missions (median: 1 vs. 0), more frequent depressive episodes (14.8% vs. 7.4%), more atypical characteristics (25.9%vs.15.0%), more suicidal ideation (78.5%vs. 50.3%) and more antidepressant use (81.5%vs. 71.2%). Logistic regression analysis showed that number of admissions (OR=1.18, 95%CI:1.02~1.37), frequent depressive episodes (OR=2.10, 95%CI:1.14~3.68), depressive episodes with suicidal ideation (OR=3.55, 95%CI:2.28~5.54) were associated with suicidal at?tempt in MDD patients with anxious characteristics (P<0.05). Conclusions More number of admissions, more frequent depressive episodes, comorbid suicidal ideation may be risk factors of suicidal attempt in anxious MDD patients.
10.Risk factors of suicidality in major depressive disorder patients with and without anxious characteristics
Limin XIN ; Lin CHEN ; Zhenpeng JI ; Suoyuan ZHANG ; Jun WANG ; Yanhong LIU ; Dafang CHEN ; Fude YANG ; Gang WANG ; Yiru FANG ; Zheng LU ; Haichen YANG ; Jian HU ; Zhiyu CHEN ; Yi HUANG ; Jing SUN ; Xiaoping WANG ; Huichun LI ; Jinbei ZHANG ; Tianmei SI
Chinese Mental Health Journal 2015;(11):812-816
Objective:To compare the suicidality risk in major depressive disorder (MDD)patients with and without anxious characteristics,and analyze the risk factors of suicidality in MDD patients. Methods:This was a secondary analysis of the data from the Diagnostic Assessment Service for people with Bipolar Disorders in China (DASP),which was initiated by the Chinese Society of Psychiatry (CSP),from September 1,2010 to February 28, 201 1. Based on the anxious module and suicide module of Mini International Neuropsychiatric Interview (M. I. N. I),1 172 MDD patients were classified as suffering from anxious MDD (n=728,62. 1%)and non-anxious MDD(n=444,37. 9%). Logistic regression was employed to examine the risk factors of suicidality in MDD pa-tients. Results:Among the anxious MDD patients,331 (45. 5%)of them had suicidality risk. And 54(12. 2%)of non-anxious MDD patients had suicidality risk. Compare to the non-anxious group,the anxious MDD patients had significantly higher suicidality risk (P<0. 00 1 ). Logistic regression analysis showed that more frequent depressive episodes (OR=2. 07 ),depressive episodes with psychotic symptoms (OR=2. 0 1 ),comorbid with anxious charac-teristics (OR=3. 18)or melancholic characteristics (OR=2. 90)were associated with suicidality risk in patients with MDD. Conclusion:It indicates that the anxious MDD patients may have higher suicidality risk than non-anx-ious MDD patients,and more frequent depressive episodes,depressive episodes with psychotic symptoms,comorbid with anxious characteristics or melancholic characteristics may be risk factors of suicidality in patients with MDD.

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