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Introduction: Recent evidence suggests that blue-light phototherapy impacts gut microbiota composition in jaundiced newborns, leading to disturbances closely related to the therapy's side effects. As a result, gut microbiota may serve as a potential intervention target to mitigate these side effects. In this study, we aim to examine the effects of AB-GG (Lactobacillus rhamnosus LGG), Bb-12 (Bifidobacterium animalis Bb-12) and M-16V (Bifidobacterium breve M-16V) and their combination on the intestinal microbiota, metabolomics and phototherapy-related side effects in neonates with jaundice. Methods and analysis: A total of 100 jaundiced newborns aged two weeks or younger will be included in this randomized, single-blind (the parents knew, but the neonatologists did not know), single-center controlled trial to receive either 109 colony-forming units of AB-GG, Bb-12, M-16V, a combination of the three probiotics with blue-light phototherapy, or blue-light phototherapy alone. The experimental group will be treated with oral probiotics once daily for 30 days, while the control group will receive only blue-light phototherapy. The follow-up duration will last 30 days. The primary outcomes include changes in gut microbiota, metabolomics, and the incidence of phototherapy side effects, assessed after each phototherapy session, as well as on days 10, 20, and 30. Ethics and dissemination: The study protocol has been approved by the Ethics Committee of our institution. The findings of this trial will be submitted to a peer-reviewed pediatric journal. Its abstracts will be submitted to relevant national and international conferences. Clinical Trial Registration: http://www.chictr.org.cn/index.aspx, identifer (ChiCTR2000036013).
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Objective:To investigate ability of HCA587/MAGE-C2 protein combined with different adjuvants inducing antigen-specific immune response and antitumor effects in mice model.Methods:C57BL/6J mice were immunized with HCA587 protein com-bined with Freund's complete adjuvant(CFA)/Freund's incomplete adjuvant(IFA)and different doses of CpG ODN 1826(CpG),cellular and humoral immunity levels induced by different schemes were compared.ELISpot was used to evaluate frequency of IFN-γ-producing splenocytes.HCA587-specific antibodies were detected by ELISA.Intracellular cytokine staining(ICCS)analysis was mea-sured by flow cytometry.A tumor-bearing animal model was created by subcutaneously injection of B16-HCA587 tumor cells into right flank of C57BL/6J mice,which was treated with strategy with the strongest cellular and humoral immune response in immune compari-son protocol.Vernier calipers were used to measure tumor volume,and Log-rank test was used to analyze survival curve.Results:HCA587 protein combined with CFA and 50 μg CpG elicited strongest specific IFN-γ-secreting splenocytes and anti-HCA587 anti-bodies,which induced highest IFN-γ+CD4+T cells(P<0.05).In tumor treatment model,HCA587 protein combined with CFA and 50 μg CpG significantly inhibited tumor growth(P=0.026),while Log-rank test showed no significant effect on survival(P>0.05).Conclusion:HCA587 protein vaccine formulated with CFA and 50 μg CpG causes a significant cellular and humoral immune response and partial antitumor effect in mice model,providing new experimental data for preclinical research of tumor antigen protein vaccine.
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OBJECTIVE To construct the evaluation index system for scientific research ability of hospital pharmacists, and provide reference for the improvement of hospital pharmacists’ scientific research ability and the formulation of relevant scientific research policies. METHODS The relevant indexes of scientific research evaluation of hospital pharmacists were extracted by literature analysis, and consultation questionnaire was designed according to Likert grade 5 scoring method. Delphi method was used to conduct two rounds of questionnaire consultation for 28 experts, and the weight of each index was determined by analytic hierarchy process. The reliability and validity of index system were analyzed by questionnaire survey. RESULTS After two rounds of expert correspondence, evaluation index system for scientific research ability of hospital pharmacists was finally determined from three core dimensions: basic scientific research ability, scientific research achievements and transformation ability, academic influence and personnel training (including 11 sub-dimensions and 34 measurement items). The weight value of each dimension index was determined. The result of reliability and validity analysis confirmed the scientific rationality of the index system. CONCLUSIONS The established evaluation index system for scientific research ability of hospital pharmacists is innovative, comprehensive and scientific. The index system model can provide reference for the improvement of hospital pharmacists’ scientific research ability and the formulation of relevant scientific research policies.
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Herpes simplex virus encephalitis (HSE) is a common form of viral encephalitis, often with a single-phase course. A case of HSE with abnormal mental behavior as the main manifestation, admitted in Peking University Shenzhen Hospital in Octorber 2020, which improved after sufficient antiviral treatment was reported. After 2 months, abnormal mental behavior with memory deterioration recurred. It was considered as anti-N-methyl-D-aspartate receptor antibody combined with anti-glutamic decarboxylase antibody double-positive encephalitis, and improved after rituximab treatment. At present, there is no clinical report of such double antibody positive autoimmune encephalitis secondary to HSE. The purpose of this case report is to raise clinician awareness of post-HSE autoimmune encephalitis.
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Hepatocellular carcinoma (HCC) is one of the most common malignant tumors in the world, and the study on the regulatory mechanisms of the invasion and migration of HCC is of great significance to clinical diagnosis and treatment. Circular RNA (circRNA), as an important member of the non-coding RNA family, plays the role of microRNA (miRNA) sponge in hepatocytes due to its highly stable circular structure. It also plays an important role in HCC progression by regulating miRNA or promoting the expression of target genes through the competitive endogenous RNA mechanism. This article explores the mechanism of action of circRNA in the pathogenesis of HCC, so as to help with the screening for diagnostic markers of HCC and the development of effective therapeutic targets for HCC.
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Objective To investigate the clinical value of alpha-fetoprotein (AFP) combined with gamma-glutamyl transpeptidase (GGT)/aspartate aminotransferase (AST) ratio in the diagnosis of hepatitis B virus (HBV)-associated hepatocellular carcinoma (HCC). Methods A total of 352 subjects who received treatment or underwent physical examination in Renmin Hospital of Wuhan University from January 15 to June 15, 2020, were enrolled, among whom there were 86 healthy controls (HC group), 68 patients with chronic hepatitis B (CHB group), 69 patients with liver cirrhosis (LC group), and 129 patients with HCC (HCC group), and a retrospective analysis was performed for the serological test results of all subjects. An analysis of variance was used for comparison of normally distributed continuous data between multiple groups, and the least significant difference t -test was used for further comparison between two groups; the Kruskal-Wallis H test was used for comparison of continuous data with skewed distribution between multiple groups, and the Nemenyi method was used for further comparison between two groups. A binary logistic regression analysis was used to calculate predictor variables; a receiver operating characteristic (ROC) curve was plotted for AFP, GGT/AST, and the predictor variables used alone or in combination, and the area under the ROC curve (AUC), sensitivity, and specificity were calculated; the Z test was used for comparison of AUC. Results The HCC group had significantly higher GGT/AST ratio and AFP than the other groups (all P < 0.05). The ROC curve analysis showed that AFP combined with GGT/AST ratio had a significantly higher AUC than AFP alone in the HCC group vs the LC group, the HCC group vs the HC+CHB+LC groups, and the HCC group vs the CHB+LC groups ( Z =2.684, 2.241, and 2.415, P =0.007, 0.025, and 0.016). Conclusion AFP combined with GGT/AST ratio can improve the clinical diagnostic performance of HBV-related HCC and thus has a certain diagnostic value.
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Objective:To investigate the diagnostic and prognostic value of the growth differentiation factor 15 (GDF15) and the procalcitonin (PCT) in sepsis.Methods:A total number of 137 patients with sepsis (considered as the sepsis group) and 59 patients with inflammatory infection but not diagnosed as sepsis (the non-sepsis group) received treatment in intensive care unit of Renming Hospital of Wuhan University were collected from July 2020 to January 2021, and 62 cases of healthy physical examination (control group) were simultaneously chosen as control. Sepsis patients were divided into two groups (death group [ n=48] and survival group [ n=89]) according to their 28-day′s survival. The serum levels of GDF15, PCT, C-reactive protein (CRP), interleukin-6 (IL-6) and interleukin-10 (IL-10) were examined, and the levels of each index, was dynamically monitored on the 1st, 3rd and 7th day after admission. The differences of the two indicators between different groups were compared by non-parametric test. The correlation between GDF15 and PCT was analyzed by Spearman correlation test. The receiver operating characteristic (ROC) curve was drawn to evaluate the diagnostic and prognostic value of the two indicators for sepsis. Results:The levels of GDF15 in the sepsis group, non-sepsis group and control group were 3.22 (1.39, 6.31) μg/L, 0.84 (0.21, 1.66) μg/L and 0.11 (0.09, 0.13) μg/L, respectively. The levels of PCT were 13.10 (1.99, 50.25) μg/L, 0.24 (0.13, 0.68) μg/L and 0.05 (0.03, 0.10) μg/L, respectively. The levels of CRP were 115.80 (26.40, 184.07) mg/L, 24.20 (11.30, 53.20) mg/L and 0.50 (0.50, 2.76) mg/L, respectively. The levels of IL-6 were 68.26 (21.59, 255.46) ng/L, 33.20 (10.81, 89.27) ng/L and 8.82 (7.33, 11.23) ng/L, respectively. The levels of IL-10 were 11.30 (5.88, 25.50) ng/L, 9.34 (5.65, 16.90) ng/L and 4.94 (4.31, 5.31) ng/L, respectively. The GDF15, PCT, CRP and IL-6 of the sepsis group were significantly higher than those of the non-sepsis group (The U values were 67.681, 86.034, 44.164 and 38.934, respectively, with P values less than 0.05) and the control group (The U values were 136.475, 138.667, 120.701 and 100.886, respectively, with P values less than 0.001). There was no significant difference in IL-10 between sepsis group and nonsepsis group, but it was higher than that of control group ( U=80.221, P<0.001). There was a positive correlation between GDF15 and PCT in patients with sepsis, and the spearman correlation coefficient was 0.234 ( P=0.006). The GDF15 of the death group and the survival group were 5.49 (3.60, 8.25) μg/L and 2.03 (1.06, 3.69) μg/L, and the PCT levels were 26.45 (11.23, 94.25) μg/L and 9.08 (1.33, 22.75) μg/L, respectively. GDF15 and PCT in the death group were significantly higher than those in the survival group ( U values were 3 305.500 and 3 060.000, respectively, and P values were both less than 0.001). The GDF15 and PCT levels in the death group were higher than those in the survival group on the 1st, 3rd and 7th day of dynamic monitoring ( P<0.05), however, the level of CRP and IL-10 were not significantly different ( P>0.05). The level of IL-6 in the death group was not significantly different from that of the death group on 1st day, but was higher than that of the survival group on the 3rd and 7th day ( P<0.05). The area under the curve (AUC) of GDF15, PCT, CRP, IL-6 and IL-10 alone and in the combined diagnosis of sepsis were 0.899, 0.938, 0.874, 0.789, 0.698 and 0.962, respectively. The combined detection of AUC was better than a single index; the GDF15, PCT, CRP, IL-6 and IL-10 alone and combined detection of sepsis prognosis AUC were 0.774, 0.716, 0.522, 0.623, 0.520 and 0.839, respectively, the combined detection of AUC is also better than single index. Conclusions:GDF15 and PCT have good clinical reference value in the differential diagnosis and prognosis of sepsis. The combination of indicators has a higher clinical value. GDF15 may become a biomarker for the diagnosis and prognosis of sepsis.
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Objective To compare the research status and hotspots of immunotherapy for liver cancer at home and abroad. Methods Papers about immunotherapy for liver cancer published from the establishment to 2019 were searched in PubMed database and Chinese database. Information were extracted and sorted by BICOMB-2 software, and then we created the word matrix and co-occurrence matrix of high-frequency subject headings. The cluster analysis of subject headings was conducted by gCLUTO 1.0. NetDraw 2.089 was used to draw social network diagrams, UCINET 6.212 was used to conduct the centrality analysis. Results There were 2 081 foreign literatures and 901 Chinese literatures, involving 655 foreign periodicals and 275 Chinese periodicals. Four themes of immunotherapy for liver cancer were determined: the correlation between the immune inoculation of hepatitis B patients and the occurrence of liver cancer, the study between dendritic cells and immunotherapy for liver cancer, the study of the combination of radiotherapy and immunotherapy on liver cancer, and related research of natural killer cells and liver cancer immunotherapy. Conclusion The number of researches on immunotherapy for liver cancer have shown an increasing trend year by year. We can learn from the international research status and hotspots to create a new way for liver cancer treatment.
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Objective@#Through screening the serum TSH in rural pregestational women, fo find out the high incidence area and high risk population of thyroid disease in Yunnan province, to reduce the probability of infertility and abnormal pregnancy and provide important reference basis for prenatal aristogenesis.@*Methods@#The serum TSH level of 30 163 rural pregestational women(20-49 yeas old) which from 16 different areas and 16 different ethnicities of Yunnan province was detected by using TSH3-Ultra (TSH3-UL) reagent on a Siemens centar-XP automatic chemiluminescence apparatus.@*Results@#1 797 women were found with abnormal serum TSH level, the abnormal rate was 5.96%. Among them, the proportion of women with decreased TSH was 3.09% and increased TSH was 2.87%, compared with the normal reference range. And there was a significant difference of abnormal serum TSH rate between pregestational women from different areas and ethnicities. Moreover, in the 16 tested areas, the highest abnormal serum TSH rate was 8.90% from Ximeng county, the lowest was 3.60% from Diqing state. However in the 16 tested ethnicities, the highest abnormal serum TSH rate was 9.73% from Lisu ethnic minority and the lowest was 3.60% from Tibetan ethnic minority.@*Conclusions@#The results inferred that ethnic and regional factors both to some extent affect the prevalence of thyroid disease in pregestational women and it is a small probability event that high occurrence of TSH decreased or increased situation simultaneously happened in one area or one ethnicity.
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Objective To investigate the clinical diagnostic value of serum procalcitonin(PCT),D-dimer (DD),C-reactive protein(CRP)in acute-on-chronic liver failure(ACLF). Methods 124 ACLF patients, 63 chronic hepatitis B patients,32 chronic hepatitis C patients,24 chronic hepatitis E patients and 60 healthy controls from the second affiliated hospital of Nanchang University were enrolled in this study.PCT was detected by a sandwish immunodetection method. D-dimer was detected by Latex Turbidimetry. CRP was detected by rate nephenometry. The detection results were used for analyzing the clinical diagnostic value of ACLF with infection. Results(1)The level of PCT,DD and CRP in ACLF group were significantly higher than non-ACLF group and healthy controls(P<0.05).The levels of PCT,DD and CRP in the infection group were significantly higher than non-infection group(P<0.05).(2)The positive rates of PCT,DD and CRP in the infection group were 93.24%, 78.38%,89.19%,which were significantly higher than the non-infection group and healthy controls respectively (P < 0.05).(3)The sensitivity(93.24%)and specificity(90.00%)of PCT were the highest among all indexes. (4)The area under the ROC curve of PCT,DD,CRP were 0.892,0.715,0.755,respectively.PCT had the highest diagnostic value. Conclusion The levels of serum PCT,DD and CRP have a significant clinical value for the early diagnosis of ACLF with infection.
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Objective To study the mutation rate of hereditary deafness genes found in the newborn babies and to explore the feasibility of routine screening of congenital deafness for the newborns.Method The cord blood were taken to tcst four common deafness genes using gene chip technology in newborn infants born in our Hospital from May 2015 to May 2017 and screening of hearing was performed 48 hours after birth.x2 test was used to analyze the results of gene screening and the hearing screening data obtained after 42 days.Result A total of 2 615 newborns were enrolled in the study and 2 455 cases passed the hearing screening test 48 hours after birth (the passing rate was 93.9%).143 cases passed the hearing screening after 42 days with the passing rate of 99.3%.The mutation of deafness gene from the newborn's cord blood was detected in 107 cases with the rate of 4.1%.96 of 107 infants with deafness gene mutations passed the hearing screening (89.7%).While in infants without this mutation,2 502 cases passed the hearing screening (99.8%,2 502/2 508).The rate of hearing defects in children with deafness gene mutation was significantly higher than those without this gene mutation,and the difference was statistically significant (x2 =160.199,P <0.001).Of the 107 cases,the most common mutation was GJB2 (49 cases,45.8%),followed by SLC26A4 (37 cases,34.6%) and mtDNA 12SrRNA (13 cases,12.1%),while the GJB3 was the least (8 cases,7.5%).6 cases were diagnosed the neonate hearing loss at 3 months in 17 newborns who failed to pass repeat screening test 42 days after birth.Among them,hearing loss was caused by the mutation in 5 cases.Conclusion The main mutated genes in children with deafness were GJB2 and SLC26A4 in this study.The combination of hearing screening of newborns and gene test is clinically feasible.The deafness genes in the normal hearing carriers can be detected in time.It is of great advantage for early intervention and treament of the infants early.
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Objective:To explore combined detection of mad2 with anti-nuclear mitotic spindle apparatus antibody(MSA)and anti-centromere antibody(ACA)and their clinical value for the diagnosis of small cell lung cancer(SCLC).Methods:One hundred and twen-ty SCLC patients,110 non-small cell lung cancer(NSCLC)patients,and 115 pulmonary nodule(PN)patients were enrolled in this study. The expression of mad2 was analyzed by qt-PCR.MSA and ACA were detected by indirect immunofluorescence(IIF)staining.Results:mad2 was overexpressed in SCLC and NSCLC samples(P<0.05).There were significant differences between the results obtained for SCLC and NSCLC samples by qt-PCR(P<0.05).AUC in ROC curve for mad2 expression was 0.799 with an intermediate diagnostic value. In the correlative analysis,the odds ratio of MSA and ACA was 6.94 and 5.60,respectively.In the correlation analysis,Kappa value of mad2 with MSA was 0.49,and Kappa value of mad2 with ACA was 0.42.In the parallel analysis,the sensitivity and specificity was 83.31% and 79.34%,respectively,while the Youden Index was 0.62.Moreover,in the serial analysis,the sensitivity and specificity was 65.32% and 93.35%,respectively,and the Youden Index was 0.59.Conclusions:In comparison with the NSCLC and PN samples,mad2 was overexpressed in SCLC samples.Therefore,mad2 ought to play a critical role in the pathology of SCLC.The combined expression of mad2 with MSA and ACA may contribute to enhancing the sensitivity and specificity of detection;this expression may allow early diag-nosis and clinical diagnosis of SLCC and may be a promising treatment for SCLC.
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Objective To explore the prognostic factors in Guillain Barre syndrome (GBS) in children. Methods A total of 125 children with GBS were included and grouped according to their independent walking at two and six months after discharge, and their clinical data were analyzed. Results In 125 children (74 males, 51 females) the average age was 84.49±25.32 months, and 41 were under 6 years old. 102 children had a history of prodromal infections. 32 children had cranial nerve involvement and 35 had autonomic nerve involvement. 12 children need assisted respiration. At 2 and 6 months after discharge, when compared with children who could walk independently, the rates of functional score > 3, cranial nerve involvement, and neuroelectrophysiology as denervation potential were higher in children who could not walk independently, and the differences were statistically significant (P all<0.05). Conclusions The factors that affect the short-term prognosis are denervation potential in neuroelectrophysiology, cranial nerve involvement, and functional score > 3. Early identification of uniqueness in patients and subsequent development of targeted rehabilitation training should be carried out to improve the prognosis.
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The effects of fucoidan on the lipidomics profiling of juvenile yellow catfish (pelteobagrus fulvidraco) during different feeding time (week 1, week 2, week 3 and week 8) were investigated by ultra-performance liquid chromatography-quadrupole-time-of-flight-mass spectrometry (UPLC-Q-TOF-MS) combined with multivariate data analysis, e.g.principal component analysis (PCA) and partial least squares-discriminate analysis (PLS-DA).Based on VIP and p values, 11 lipid biomarkers were screened including lysophosphatidylcholine (Lyso-PC) 16∶0, phosphatidylcholine (PC) 22∶6/16∶0, phosphatidylethanolamine (PE) 22∶6/16∶0, phosphatidylinositol (PI) 18∶0/22∶6, diacylglycerol (DAG) 16∶0/16∶0,DAG 16∶0/18∶1, DAG 18∶1/18∶1, triglycerides (TAG) 20∶5/16∶0/18∶3, TAG 20∶4/16∶1/18∶2, TAG 16∶0/18∶2/20∶5 and TAG 18∶2/14∶0/18∶1.It was found that Lyso-PC, PC, PE and PI had the largest levels at the eighth week;the levels of DAG were decreased at the second and fourth weeks, and increased at the eighth week.While TAG was different: the content of TAG 18∶2/14∶0/18∶1, TAG 20∶5/16∶0/18∶3 and TAG 20∶4/16∶1/18∶2 increased in response to fucoidan, but TAG 16∶0/18∶2/20∶5 decreased little.Therefore, for juvenile yellow catfish, fucoidan can affect its lipid metabolism, which provides a theoretical basis for investigation of the influence of fucoidan on the response mechanism of lipid metabolism of juvenile yellow catfish.
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Objective To investigate the effect of three-color warning management on maternal and child outcomes in high-risk pregnant women with major diseases and severe complications.Methods Retrospective analysis of hospitalized 703 cases of high risk obstetrics was included in the three color warning management of maternal data between May 2015 to July 2016 in our hospital.Maternal disease spectrum changes of three color warning,the rate of intensive care unit (ICU) admission,and maternal mortality rate were observed.Results There were 497 cases (70.70%) of blue warning,78 cases (20.48%) of yellow warning,and 62 cases (8.82%) of red warning.There was 1 case of maternal death and the rate of ICU admission was 7.85% in blue warning;2 case of maternal death and the rate of ICU admission was 24.31% in yellow warning;5 cases of maternal death,the rate of ICU admission was 43.55% in red warning.Conclusions Three color warning management system can be used to assess the severity of the disease,improve the diagnosis and treatment of disease,improve patient survival,improve pregnancy outcomes,and reduce maternal complications.
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Objective To investigate the effect of three-color warning management on maternal and child outcomes in high-risk pregnant women with major diseases and severe complications.Methods Retrospective analysis of hospitalized 703 cases of high risk obstetrics was included in the three color warning management of maternal data between May 2015 to July 2016 in our hospital.Maternal disease spectrum changes of three color warning,the rate of intensive care unit (ICU) admission,and maternal mortality rate were observed.Results There were 497 cases (70.70%) of blue warning,78 cases (20.48%) of yellow warning,and 62 cases (8.82%) of red warning.There was 1 case of maternal death and the rate of ICU admission was 7.85% in blue warning;2 case of maternal death and the rate of ICU admission was 24.31% in yellow warning;5 cases of maternal death,the rate of ICU admission was 43.55% in red warning.Conclusions Three color warning management system can be used to assess the severity of the disease,improve the diagnosis and treatment of disease,improve patient survival,improve pregnancy outcomes,and reduce maternal complications.
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Objective To discuss the efficacy of Baofukang combined with clindamycin injection in treatment of chronic cervicitis patients with high-risk human papilloma virus infection (hr-HPV).Methods Totally 100 patients who had chronic cervicitis with hr-HPV were selected and divided into two groups randomly.The patients in control group (49 cases) were given Baofukang.The patients in observation group (51 cases) were given Baofukang combined with clindamycin injection.The efficacy of Baofukang combined with clindamycin injection in treatment of chronic cervicitis patients with hr-HPV was evaluated by efficacy,HPV negative rate,inflammatory factors before and after treatment and adverse reaction during treatment.Results After treatment,the effective rate of observation group was 92.1%,and the effective rate of control group was 75.5%,the effective rate of observation group was higher than that of control group (P < 0.05).After treatment,the HPV negative rate in observation group was 90.2%,the control group was 59.2%,the HPV negative rate of observation group was higher than that of control group (P < 0.05).Before treatment,there was no statistical significance on hs-CRP,IL-6,and TNF-α between two groups.After treatment,the hs-CRP,IL-6,and TNF-α were decreased in two groups (P < 0.05).The hs-CRP,IL-6,and TNF-α of observation group were lower than those of control group (P < 0.05).There was no statistical significance on adverse reaction between two groups.Conclusion Baofukang combined with clindamycin injection had a good therapeutic effect on chronic cervicitis with hr-HPV.It could inhibit HPV and inflammatory factors well.It was safe and worthy of clinical use.
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Objective To report the clinical, myopathological and genetic features of a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)/Leigh syndrome (LS) overlap syndrome who carried m.10158 T>C mutation. Methods The patient′s clinical and imaging materials were collected. An open biopsy of right biceps brachii was performed. DNA samples were prepared from the patient and her mother′s blood. Direct sequencing of the complete mitochondrial genome was performed to detect the mtDNA mutation.Western blotting was used to estimate the content of respiratory complexes in the patient′s muscle. Results The patient was a 40-year-old female. She had seizures and lost consciousness for 9 months. Brain MRI findings consisted of asymmetrical lesions in the cerebral cortex of the frontal and temporal lobes, as well as symmetrical lesions bilaterally in the basal ganglia. Muscle biopsy showed typical ragged red fibers. Direct sequencing of the complete mitochondrial genome from blood and muscle of the patient revealed the T-to-C transition at nucleotide position 10158 in the MT-ND3 gene.The mutation rate was 9.31% and 70.0%, respectively.Western blotting demonstrated that the contents of complexes Ⅰ and Ⅳ were significantly lower in the patient′s muscle mitochondria compared with the normal controls (53.1%±1.2% vs 88.6%±1.7%, t=4.08, PC mutation in MT-ND3 gene and DNA test is very important for the diagnosis of the disease.
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Objective To report the clinical,myopathological and genetic features of a patient with distal myopathy caused by caveolin-3 (CAV3) deficiency.Methods The patient was a 27-year-old female.She had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdle muscles were involved subsequently.Clinical data of this patient were collected.The leg muscle magnetic resonance imaging (MRI) and an open biopsy of left tibialis anterior muscle were performed.In addition to histological,enzyme histochemical staining and ultrastructural examination,immunohistochemical staining with antibody against CAV3 was done.CAV3 gene was analyzed in the patient and her parents.Results Tl-weighted enhanced skeletal muscle MRI of the lower limbs showed the abnormal signal in distal and proximal muscles.Muscle biopsy showed moderate dystrophic changes and immunostaining for CAV3 showed reduced plasmalemma in the muscle fibers.Gene analysis disclosed a heterozygous c.136G > A (p.Ala46Thr)mutation in the CAV3 gene,and the patient's parents did not have this mutation.Conclusions We report a distal myopathy case caused by c.136G > A (p.Ala46Thr) mutation in the CAV3 gene,who had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdal muscles were also involved.This would help clinical doctors to know more about this rare myopathy.
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Objective To observe the characteristics of bone development and body development in 3-7 years old children with cerebral palsy. Methods 50 girls and 50 boys aged 3-7 years with cerebral palsy were included. Their height, weight, length of right and left upper ex-tremities, and both hands bone age were measured by trained professionals. Results Their bone ages of both hands were 1 year younger than actual age (P0.05). Their height growth was in line with the normal children, while the weight growth was a little different. Both sides of upper limbs growed synchronously, and slowed down with the time. There was no significant difference in both sides (P>0.05). Conclusion The bone development of children with cerebral palsy lags behind the life age. Their height growth is close to normal children. The development shows no no significant lateral dominance.