1.Research on the correlation between the rescue time and the spot survival rate during Wenchuan earth-quake
Fuxiang LI ; Zhaoxia XU ; Guomin CAO ; Hongmei WANG ; Kai ZHOU ; Li SHI ; Jun LI ; Xun XIA
Chinese Journal of Emergency Medicine 2009;18(4):420-422
Objective To study the correlation between the rescue time and the spot survival rate.Method The data of spot-rescued victims in a large public place of Dujiangyan City from 14:35 on May 12,2008 to 11:40 on May 15,2008 were analyzed.The searched-out victims included the spot death and spot survival,and they were statistically analyzed with Chi-Square test and Partitions of X2 method in order to find out correlation between rescue time and survival rate.Results Out of the 366 spot-rescued victims from the ruins,87 ones survived and the spot survival rate was 23.77%.The spot survival rate in the first 24 hours was much higher than that in the second 24 hours(X2=22.62,P<0.0125)and that in the third 24 hours(X2=37.84,P<0.0125),and no obvious difference in the spot survival rate between the second and the third 24 hours was found(X2=1.92,P>0.0125).The first 24 hours was further divided into 3 periods in equal length of time in order to find more subtle differences in early rescue.The spot survival rates in the first and the sccond 8 hours were much higher than that in the third 8 hours(x2=19.33 and 7.11,respectively,P<0.012 5)while there was no statistical difference in the spot survival rate between the first 8 hours and the second 8 hours(X2=1.75,P>0.012 5).Conclusions The"golden time"for spot rescuing the victims is the first 24 hours after seismic disaster,the chances to find the survivals is decreasing as the time elapsing.The earlier spot rescue starts in the first golden24 hours,the higher spot survival rate of the seismic victims will be.
2.Correlation between tumor-infiltrating lymphocytes and the androgen receptor in HER-2-positive breast cancer
Fang LIU ; Lu CAO ; Cong XU ; Guomin XIANG ; Yun NIU
Chinese Journal of Clinical Oncology 2019;46(8):389-393
Objective: To investigate the relationship between tumor-infiltrating lymphocytes (TILs) and the androgen receptor (AR) in human epidermal growth factor receptor 2 (HER-2)-positive breast cancer. Methods: Specimens of 448 patients with HER-2-positive breast cancer from the Tianjin Medical University Cancer Hospital between March 2018 and November 2018 were collected. TILs were pathologically evaluated. AR expression was immunohistochemically analyzed. The relationships among TILs, the AR, and clinicopathological parameters were determined. Results: There were 38.2% (171/448) patients with TILs non/low-infiltrated, 42.2% (189/448) with moderately infiltrated, and 19.6% (88/448) with high infiltration. AR was positive in 62.7%(281/448) of the patients. Spearman correlation analysis showed that TILs and the AR were negatively related (r=-0.140, P=0.003). TILs were significantly associated with the AR in estrogen receptor positive breast cancer (P=0.009). Conclusions: TILs and the AR were negatively related in HER-2-positive breast cancer, indicating that HER-2-positive breast cancer can be treated according to the different infiltration levels of TILs and AR expression.
3. Coenzyme Q10 treatment for one child with COQ6 gene mutation induced nephrotic syndrome and literature review
Qi CAO ; Guomin LI ; Hong XU ; Qian SHEN ; Li SUN ; Xiaoyan FANG ; Haimei LIU ; Wei GUO ; Yihui ZHAI ; Bingbing WU
Chinese Journal of Pediatrics 2017;55(2):135-138
Objective:
To summarize the clinical manifestation and molecular characteristics of COQ6 mutation induced nephrotic syndrome, and to evaluate efficacy of CoQ10 therapy.
Method:
Clinical data of the case with infantile nephrotic syndrome was summarized, including clinical manifestations, laboratory findings and family investigation. The patient received CoQ10 30 mg/(kg·d) therapy. Urine protein/creatinine ratio, serum albumin and creatinine were detected to assess the efficacy of the therapy.
Result:
(1) The 10 months old boy was presented with nephrotic level proteinuria and hypoalbuminemia. Extra-renal manifestations included cardiovascular abnormality, motor and mental retardation and unilateral ptosis. The patient had no consanguinity. A novel homozygous p. R360W mutation in COQ6 gene was identified and confirmed by next-generation sequencing and Sanger sequencing, respectively. Family analysis showed that homozygous p. R360W mutation in COQ6 gene was inherited from his parents. Missense p. R360W mutation was damaging by prediction online PolyPhen and SIFT software. After 2 months of CoQ10 complementary therapy, the patient′s urine protein/creatinine ratio declined from 7.2 to 1.3, and decreased further to 0.01 mg/mg with normal albumin level and renal function within 3 months. Nephropathy remission was maintained and growth retardation improved significantly during the last follow-up. Nevertheless, the patient manifested with sensorineural deafness at the age of 2 years. (2) There were 6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 (COQ6) in 13 individuals from 7 families by homozygosity mapping in the whole world. Each mutation was linked to early-onset SRNS with sensorineural deafness. Renal biopsy revealed FSGS in 7 cases and DMS in 1 case. Other manifestations included ataxia, seizures, facial dysmorphism, nephrolithiasis and growth retardation. Four patients received CoQ10 supplementation and responded to the treatment.
Conclusion
Renal disease caused by recessive COQ6 gene mutation was nephrotic syndrome. The patient benefited from early CoQ10 complement and reached nephropathy remission.
4.Phenotype analysis of 9 cases with mutations in PKHD1 gene
Guomin LI ; Qian SHEN ; Li SUN ; Qi CAO ; Yihui ZHAI ; Xiaoyan FANG ; Bingbing WU ; Hong XU
Chinese Journal of Nephrology 2017;33(11):831-837
Objective To summarize the clinical features of 9 cases with mutations in PKHD1 gene for a better understanding of its phenotype.Methods Clinical data of nine cases with mutations in PKHD1 gene were summarized from January 2011 to December 2016 in our center,including clinical manifestations,laboratory findings,imaging data and family investigation.Next generation sequencing was used to screen 4000 genes in case 1 to 4 and whole exons in case 5 to 9.Significant variants detected by next generation sequencing were confirmed by conventional Sanger sequencing.Segregation analysis was performed using parental DNA samples.Relevant literature was reviewed.Results Among these 9 cases,5 are male,4 are female.The average age of onset was 2.6 years old (ranging from 0.5-5.2 years).Renal ultrasound revealed that all 9 cases had cysts in bilateral kidney,7 cases with enlarged kidney,1 case with normal size kidney,1 case with normal size kidney,and 1 case with bilateral renal atrophy.Two cases with renal artery stenosis,1 case with focal narrowing in left main branch and 1 case with vesico-ureteral reflux were found.Among the 9 cases,3 cases had homozygous mutations,and 6 cases had compound heterozygous mutations,including 1 nonsense mutation,1 frameshift mutation and 15 missense mutations.There were 2 cases with 3 heterozygous mutations,2 c.5935C > T mutations and 2 eases with C.5869G > A mutations.A total of 10 new mutations were identified.Conclusion Patients with mutations in the PKHD1 gene had normal size kidney,or even atrophic kidney.Renal artery stenosis,vesicoureteral reflux and bronchial stenosis were all first reported in patients with mutations in PKHD1 gene.The novel mutations,c.274C > T,c.9059T > C,c.8996delG,c.281C > T,c.10424T > A,c.7092T > G,c.4949T > C,c.5869G > A,c.6197A > G and c.1877A > G further expanded the mutation spectrum of PKHD1 gene.
5. Clinical and genetic characters of 8 Chinese children with ADCK4-associated glomerulopathy
Xiaoxiang SONG ; Hong XU ; Qian SHEN ; Li SUN ; Qi CAO ; Guomin LI ; Xiaoyan FANG ; Haimei LIU ; Yihui ZHAI ; Bingbing WU
Chinese Journal of Nephrology 2017;33(1):22-29
Objective:
To investigate the clinical and genetic character of Chinese children with the aarF domain containing kinase 4 (ADCK4)-associated glomerulopathy.
Methods:
Applying next generation sequencing to detect possible gene mutation(renal disease associated monogene was pooled as one panel) in 69 children with steroid-resistant nephrotic syndrome (SRNS) or persistent proteinuria of unknown origin. Sanger sequencing was used to confirm the significant mutations found in the children and to validate these mutation sites in their patients. Using online software (PolyPhen2, SIFT, Mutation Taster) to predict whether the detected missense mutations were disease causing or not. Collecting and analyzing clinical data of children with ADCK4-associated glomerulopathy, which included onset age, clinical manifestation, and renal pathology.
Results:
The ADCK4 gene mutation was detected in 8 children with a positive rate of 11.6% (8 out of 69), among which 3 patients carried homozygous c.748G>C mutation, 3 patients carried homologous c.737G>A mutation, 1 patient carried compound heterozygous mutation(c.748G>C and c.737G>A), and 1 patient carried compound heterologous mutation(c.551A>G and c.737G>A). Collectively, there were only 3 mutation sites found in total 8 patients, in which the mutation sites of c.748G>C and c.737G>A had high detection frequency in these 8 patients. These 3 mutation sites were all missense mutation which were predicted to be disease causing by online software and not reported before. The average onset age was 6.5 years (2 years-11.75 years). Four patients presented with SRNS and the other 4 presented with persistent proteinuria. All 8 patients had no extrarenal manifestation, renal biopsy revealed focal segmental glomerulosclerosis (FSGS) in most patients, among which 3 cases had gone to end-stage renal disease (ESRD) at disease onset, and 2 cases progressed to ESRD 2 and 5 years after onset respectively. Seven patients had received glucocorticoid and/or immunosuppressive drug while only one patient getting partial response. All 8 patients were treated with large amount of coenzyme Q10 (15 mg·kg-1·d-1) after definite diagnosis of ADCK4 mutation-some patients had acquired encouraging curative effect.
Conclusions
ADCK4-associated glomerulopathy is not rare especially in the children with SRNS. The onset age is relatively old and the extrarenal manifestation is less common. FSGS is a main pathology type. Patients usually have no response to immunosuppressive therapy, but may benefit from addition of large amount of coenzyme Q10. Some patients may only manifest with insidious proteinuria, causing the early diagnosis to be difficult, which deserves more attention. Three new missense mutations expand disease causing mutation repertoire of ADCK4 gene, among which the two sites of c.748G>C and c.737G>A may be mutation hotspot of ADCK4-associated glomerulopathy in Chinese population, and need further study.
6.Clinical characteristics of brucella bloodstream infection in patients of different age groups
Li SU ; Yawen CAO ; Yaomin LIU ; Guomin ZHANG ; Jianhua ZHANG ; Fengmei CUI
Chinese Journal of Endemiology 2023;42(11):922-928
Objective:To study the clinical characteristics of patients with brucella bloodstream infection in different age groups, and provide a basis for clinicians to take targeted diagnosis and treatment measures. Methods:Demographic data and general condition (age, sex, occupation, location, onset season, source of infection, clinical stage), clinical characteristics (main clinical symptoms and complications), and laboratory test results (routine and pathogenic tests) of adult patients with brucella bloodstream infection admitted to the Affiliated Hospital of Chengde Medical College from January 2015 to January 2020 were collected. According to the age stratification standards recommended by the World Health Organization, the patients were divided into a young group (18 - 44 years old), a middle-aged group (45 - 59 years old), and an elderly group (≥60 years old), and various indicators among different age groups were compared and analyzed. Results:A total of 75 patients were included, including 15 cases (20.00%) in the young group, 37 cases (49.33%) in the middle-aged group, and 23 cases (30.67%) in the elderly group. Among them, 61 cases (81.33%) were males and 14 cases (18.67%) were females, with statistically significant differences in gender ratios among different age groups (χ 2 = 7.28, P = 0.021). The majority of patients were farmers (64 cases, 85.33%), and 92.00% (69/75) of the patients came from rural areas. The main sources of infection were infected cattle and sheep, and contaminated food (39 cases, 52.00%). The main season of onset was spring and summer (45 cases, 60.00%). The clinical staging was mainly in the acute phase (66 cases, 88.00%). In terms of clinical symptoms, the young group of patients had no symptoms of low back pain, while the incidence rates of low back pain in the middle-aged and elderly groups were 35.14% (13/37) and 30.43% (7/23), respectively. There was a statistically significant difference between the three groups (χ 2 = 6.98, P = 0.031). In terms of complications, there were no cases of concurrent spondylitis in the young group of patients. The incidence rates of spondylitis in the middle-aged and elderly groups were 32.43% (12/37) and 34.78% (8/23), respectively. There was a statistically significant difference among the three groups (χ 2 = 6.86, P = 0.032). In terms of routine laboratory examinations, there were statistically significant differences in the proportion of blood lymphocytes and albumin levels among patients of different age groups ( F = 3.41, 3.27, P = 0.038, 0.044). In terms of pathogenic examination, there was a statistically significant difference in the median alarm time for positive blood culture among patients of different age groups ( H = 9.54, P = 0.008), with the middle-aged group having the longest (66.24 h) and the elderly group having the shortest (58.80 h). Conclusions:The clinical characteristics of patients with brucella bloodstream infection vary among different age groups, middle-aged and elderly patients are prone to low back pain symptoms, accompanied by spondylitis. Clinicians should pay attention to the patient's own characteristics and provide targeted diagnosis and treatment.
7.Rate of infection and related risk factors on hepatitis C virus in three counties of Jiangsu province.
Ke XU ; Liguo ZHU ; Fenyang TANG ; Changjun BAO ; Yefei ZHU ; Minquan CAO ; Guomin DU ; Jianfang XU ; Hong PENG ; Xiangjun ZHAI ;
Chinese Journal of Epidemiology 2014;35(11):1212-1217
OBJECTIVETo investigate the hepatitis C virus (HCV) infection rate among general population in Jiangsu province and to analyze the main risk factors for HCV infection.
METHODSSubjects in 3 counties were surveyed by stratified cluster random sampling in the National Major Science and Technology Projects demonstration area in Jiangsu province. Interview was carried out with uniformly- designed questionnaires. Blood samples were collected and anti-HCV tested. Data were analysed under SPSS 13.0. Case-control study was conducted on two groups with subjects under 1:4 matching by sex, age, village of residence and status of HCV infection. Cox's proportional hazards regression analysis was then performed to analyze the risk factors for HCV infection.
RESULTSThe positive rate of anti-HCV was higher in females (0.965%, 95%CI:0.899%-1.035%) than in males (0.572%, 95%CI:0.517%-0.632%). Significant differences were noticed among the positive rates of anti-HCV in the three counties (0.131%, 95%CI:0.103%-0.164%;0.316%, 95%CI: 0.268%-0.370%; 2.173% , 95% CI:2.039%-2.315% , respectively). Peak prevalence of anti-HCV (1.577%, 95%CI:1.425%-1.740%) was observed among persons at 50-59 years of age. Bottom rate (0.161%, 95%CI:0.125%-0.204%) was observed below 30 years of age. High anti-HCV positive rate was detected in people with lower education background or belonged to 'floating population'. Factors as having histories of hospitalization (OR = 3.049, 95% CI:1.322-7.036), blood transfusion (OR = 14.319, 95%CI:2.318-88.459) or sharing razor (OR = 3.604, 95%CI:1.096-11.851) were risk factors of HCV infection in the area with the lowest anti-HCV positive rate. In another county, factor as having histories of 'blood products transfusion' (OR = 7.202, 95% CI:1.170-44.310) appeared important while in the third county, having history of 'blood donation' (OR = 7.496, 95%CI:6.121- 9.180); 'blood transfusion' (OR = 2.305, 95%CI:1.578-3.369) and 'invasive physical examination' (OR = 1.258, 95% CI:1.021-1.549) appeared to be important. Age seemed a risk factor for HCV infection. "Sharing razor" was a specifically important risk factor among the 30- year-olds. "Having received acupuncture" was noticed a risk factor only among people at 50-59 years of age while "Having received invasive physical examination" was important in the 50-59 and 60-69 year-olds.
CONCLUSIONHigh anti-HCV positive rate was observed in people at middle of aged population, as well as in those with poor education or under 'floating'. Unsafe blood donation or having received blood-product transfusion might be the risk factors in the last decades. Factors as sharing razor, having received acupuncture or invasive examination might be specifically risky in different populations.
Blood Donors ; Blood Transfusion ; Case-Control Studies ; China ; epidemiology ; Female ; Hepacivirus ; Hepatitis C ; epidemiology ; Humans ; Male ; Prevalence ; Regression Analysis ; Risk Factors
8.Network pharmacology and molecular docking analysis on molecular targets and mechanism prediction of Huanglian Jiedu Decoction in the treatment of COVID-19
XU Xinyi ; LIU Leping ; CAO Xueshuai ; LONG Xi ; PENG Sujuan ; ZHANG Guomin
Digital Chinese Medicine 2022;5(1):18-32
Objective To investigate and predict the molecular targets and mechanism of Huanglian Jiedu Decoction (黄连解毒汤, HLJDD) in the treatment of Corona Virus Disease 2019 (COVID-19) through network pharmacology and molecular docking analysis. Methods The chemical constituents and action targets of HLJDD were retrieved on Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP), SymMap v2, Encyclopedia of Traditional Chinese Medicine (ETCM), a High-throughput Experiment- and Reference-guided Database of Traditional Chinese Medicine (HERB), and Traditional Chinese Medicine Integrated Database (TCMID). UniProt and GeneCards were used to query the target genes that corresponding to the active compounds, and then a compound-target network was constructed using Cytoscape 3.7.2. Gene Ontology (GO) database was used to annotate GO functions. Kyoto Encyclopedia of Genes and Genomes (KEGG) was used to predict the possible mechanisms of active compounds. The Database for Annotation, Visualization and Integrated Discovery (DAVID) was used to analysis the tissue enrichment. The main active compounds in HLJDD are molecularly docked with their corresponding related targets. Results Seventy-six compounds were screened and 458 corresponding targets in the network were obtained. Gene annotation showed that the targets were involved mainly in 1 953 biological processes. 884 signaling pathways was enriched, involving signaling by interleukins, cytokine signaling in immune system, generic transcription pathway, and RNA polymerase II transcription. The targets mainly distributed in the lung, liver, and placenta, involving a variety of immune cells, such as T cells and B cells. The molecular docking results showed that core compounds such as wogonin, berberine, and baicalein had high affinity with tumor necrosis factor (TNF), insulin (INS), and tumor protein 53 (TP53). Conclusion The active compounds in HLJDD may have a therapeutic effect on COVID-19 through regulating multiple signal pathways by targeting genes such as vascular endothelial growth factor A (VEGFA), INS, interleukin-6 (IL-6), TNF, caspase-3 , TP53, and mitogen-activated protein kinase 3 (MAPK3).