Value of lipid accumulation product and visceral fat index in predicting nonalcoholic fatty liver disease / 临床肝胆病杂志

Objective To investigate the association of lipid accumulation product (LAP) and visceral fat index (VAI) with nonalcoholic fatty liver disease (NAFLD) and the value of LAP and VAI in predicting the risk of NAFLD. Methods A total of 708 subjects who underwent physical examination in China-Japan Friendship Hospital from September 2018 to May 2019 were enrolled and divided into NAFLD group ( n =426) and non-NAFLD group ( n =282), and the two groups were compared in terms of LAP, VAI, and related biochemical parameters. The independent samples t -test was used for comparison of normally distributed continuous data between groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between groups.The chi-square test was used for comparison of categorical data between groups. The Spearman test was used for correlation analysis. The subjects were divided into L1-L4 groups based on LAP and V1-V4 groups based on VAI, and the distribution of NAFLD was compared between groups; a logistic regression analysis was used to calculate the risk of NAFLD at different levels of LAP and VAI, and the receiver operating characteristic (ROC) curves were plotted for LAP, VAI, waist circumference (WC), and body mass index (BMI) in predicting NAFLD in different sex and body weight subgroups, so as to evaluate the value of each index in the prediction and diagnosis of NAFLD. Results Compared with the non-NAFLD group, the NAFLD group had significantly higher age, proportion of male subjects, proportion of subjects with a smoking history, and levels of LAP, VAI, WC, BMI, systolic blood pressure, diastolic blood pressure, alanine aminotransferase, aspartate aminotransferase, total cholesterol, triglyceride, low-density lipoprotein cholesterol, fasting blood glucose, and serum uric acid, as well as a significantly lower level of high-density lipoprotein cholesterol (all P 0.7 in predicting the onset of NAFLD in different sex and body weight subgroups; the AUCs of LAP and VAI in the female subgroup were significantly higher than those in the male subgroup (LAP: 0.886 vs 0.785, P < 0.05; VAI: 0.824 vs 0.748, P < 0.05), and the corresponding sensitivities and specificities of LAP and VAI in the female subgroup were also higher than those in the male subgroup (sensitivity: LAP: 79.8% vs 63.7%; VAI: 77.9% vs 77.0%; specificity: LAP: 85.0% vs 81.1%; VAI: 77.6% vs 62.3%). Conclusion The risk of NAFLD increases with the increase in the levels of LAP and VAI. Both LAP and VAI have a good value in predicting NAFLD in different sex and body weight subgroups, especially in predicting NAFLD in the female population.

Effect of ursodeoxycholic acid with traditional Chinese medicine on biochemical response in patients with primary biliary cholangitis: a real-world cohort study / 中华肝脏病杂志

Objective@#To examine the effects of ursodeoxycholic acid combined with Traditional Chinese Medicine on biochemical response in patients with primary biliary cholangitis.@*Methods@#According to the method of receiving treatment, 197 patients with primary biliary cholangitis were divided into Traditional Chinese Medicine plus Western medicine group (93 cases, 47.2%) and Western medicine group (104 cases, 52.8%). From the baseline date, the combined group was treated with ursodeoxycholic acid plus traditional Chinese medicine decoction or Chinese patent medicine for at least one month and the Western medicine group simply took ursodeoxycholic acid . Additionally, Traditional Chinese medicine decoction prescriptions were mainly Xiaoyaosan and Yinchenhao. Chinese patent medicine were restricted to Biejia Ruangan tablets, Fuzheng Huayu capsules, Jiuweigantai capsules and Yinzhihuang capsules, which were used to treat liver fibrosis and cholestasis. The primary efficacy endpoint was defined as ALP level < 1.67 × ULN and ≥ 15% decrease in ALP with baseline level and TBIL≤ULN after 12 months of treatment.@*Results@#The overall biochemical response rate of patients was 35.0% (69/197). The response rate of TCM+ Western medicine group was 43.0% (40/93), and that of Western medicine group was 27.9% (29/104). The difference between the two groups was statistically significant (χ2 = 4.936, P < 0.05). Further analysis showed that the Chinese and Western medicine group was superior to the Western medicine group alone in reducing γ-glutamyltransferase (GGT) and TBiL [the median decline were GGT: 160.1 U/L and 111.3 U/L (Z = -2.474, P < 0.05), TBiL: 5.2 umol/l and 3.1 umol/l (Z = -2.125, P < 0.05)].@*Conclusion@#UDCA combined with TCM therapy can remarkably improve the biochemical response rate in patients with PBC and distinctly decrease the TBIL and GGT levels than UDCA monotherapy.

Clinical Observation of Tiotropium Bromide Combined with Budesonide Formoterol in the Treatment of Severe Bronchial Asthma in Adults / 中国药房

OBJECTIVE:To observe clinical efficacy and safety of tiotropium bromide combined with budesonide formoterol in the treatment of severe bronchial asthma in adults. METHODS:A total of 110 adult patients with severe bronchial asthma were selected from our hospital during Mar. 2013-Mar. 2016 were divided into control group and observation group according to random number table,with 55 cases in each group. Control group was given Budesonide formoterol powder for inhalation,2 inhalations each time,bid;observation group was additionally given Tiotropium bromide powder for inhalation 18 μg,qd,on the basis of con-trol group. Both groups were treated for 6 months. Clinical efficacies as well as ACT scores,respiration function indexes and the times of acute attack of asthma before and after treatment,the occurrence of ADR were compared between 2 groups. RESULTS:The efficiency rate and total response rate of observation group were 54.55% and 96.36%,which were significantly higher than 32.73%,78.18% in control group,with statistical significance(P0.05). After treatment,ACT scores of 2 groups were significantly higher than before treatment;FEV1,FEV1/FVC and PEF were significantly greater than be-fore treatment,PEFR was significantly lower than before treatment;and the indexes in observation group was significantly better than control group,with statistical significance(P0.05). CONCLUSIONS:Tiotropium bromide combined with budesonide formoter-ol in the treatment of severe bronchial asthma in adults can effectively relieve the severity of disease,improve respiration function, reduce the times of acute attack of asthma,and have good therapeutic efficacy and safety.

Application of copy number variation analysis based on next-generation sequencing in the genetic analysis of missed abortion chorionic villi / 中华妇产科杂志

Objective To investigate the value of copy number variation analysis based on next-generation sequencing (NGS-CNVA) in the genetic analysis of missed abortion chorionic villi. Methods From August 2012 to May 2014, chorionic villi from 74 cases of missed abortion at 6-13 gestational weeks in Haidian Maternal and Child Health Hospital were collected and analyzed by karyotype analysis and NGS-CNVA. The results of the two methods were compared. Results (1) Karyotype analysis was carried out for the villi from the 74 missed abortion patients. Thirty cases were euploid, 26 cases were aneuploid, while 18 cases had structural abnormalities. The resolution of the karyotyping was 320 bands and the average report time was 22 days. (2) All of the 74 samples obtained NGS-CNVA results and the report time was 7-10 days. (3) The NGS-CNVA results of 56 cases were consistent with karyotype. Among them, 28 cases (28/56, 50%) had no copy number variants (CNV), and 19 cases (19/56, 34%)had CNV between 1 Mb and 10 Mb. 9 cases (9/56,16%) had CNV≥10 Mb found by NGS-CNVA, but not found by karyotyping. (4) According to the results of NGS-CNVA, karyotype were reviewed. The reviewed results found 7 cases with CNV<10 Mb and 3 cases with CNV≥10 Mb in 30 cases which got normal karyotype results at the first analysis. (5) Among the 18 cases of structural abnormalities, 6 cases were Robertsonian translocation. Sequencing technology could confirm the specific area of chromosome deletion/duplication in 8 cases, but could not locate them. Conclusions NGS-CNVA has lower failure rate, higher resolution, lower specimen requirement and shorter report time than karyotype analysis when used for the genetic analysis of missed chorionic villi . NGS-CNVA could be a useful genetic analysis method for the missed abortion villi.

Detection of small supernumerary marker chromosome by single nucleotide polymorphism microarray chips / 中华儿科杂志

<p><b>OBJECTIVE</b>To apply single nucleotide polymorphism (SNP) microarray for delineation of small supernumerary marker chromosome (sSMC) in two newborns.</p><p><b>METHOD</b>Chromosome karyotyping was performed on newborns who were born in Jan. 2013 and Jan. 2014 in Haidian Maternal and Child Health Hospital because of the abnormalities found in pregnancy checkups. SNP microarray analysis was carried out on 2 newborns with de novo sSMCs (one was mos 47,XY, + mar[45]/46,XY[5] and the other was mos 47, XY, + mar [30]/46, XY [20]), which could not be determined by conventional banding techniques. Genomic DNA was extracted from cord blood samples, amplified, tagged and hybridized following the manufacturer' s protocol. Data were collected and analyzed.</p><p><b>RESULT</b>There was a 78. 6 Mb duplication in chromosome 8 for Newborn A, which was associated with 8p22 duplication syndrome; and a 32. 7 Mb duplication in chromosome 13 for Newborn B, which was not yet reported definitely as pathogenic. The newborn A was identified with agenesis of the corpus callosum, obvious right eyelid drooping, the onset of low muscle tone and mental developmental lag behind their peers, while the newborn B had normal findings on physical and mental evaluation.</p><p><b>CONCLUSION</b>SNP-array can identify sSMCs of newborns at the DNA level, and can be used as an important supplement to the conventional karyotype analysis, but the pathogenicity of positive outputs need further verification.</p>

Analysis of the Rate of Common Genetic Mutations of Deaf in Pregnant Women / 中国医科大学学报

Objective To carry out a molecular screening of Chinese common deafness gene mutations in Chinese pregnant women group,so as to expatiate on the content,provide molecular epidemiological data,reduce the birth rate and provide a theoretical basis to the deaf children. Methods The molecular detection was done to the pregnant women underwent normal antenatal care in our hospital,using gene chips to screen the four com?mon deaf genes(GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA)in China;then,the newborn infants carrying mutations were treated with the hearing screening,using the methods of Otoacoustic Emissions(OAE)and Brainstem Auditory Evoked Potentials(BAEP),and the husbands of mutation carrying pregnant women were adopted molecular testing of the deaf susceptibility genes in order to investigate the correlation of the rate of pregnant women carrying the mutant genes and newborn infants deafness. Results Totally 2 067 cases of pregnant women were accepted to do the molecular screening,there were 110 cases of deafness mutations detected(5.320%),in which GJB2 gene(67 cases),GJB3 gene(6 cases), SLC26A4gene(33 cases),mitochondrial 12SrRNAgene(4 cases)mutation detection rates were 3.240%,0.290%,1.600%and 0.190%,respec?tively;especially:GJB2gene 235 del C,GJB2gene 299 del AT double mutant 1 case;GJB2gene 299 del AT,GJB3gene 538 C>T double mutant 1 case;GJB2 gene 235 del C,SLC26A4 gene IVS7?2 A>G double mutant 1 case. About 108 cases children newborn accepted to do the hearing screening,in which 3 cases had problems with the left ear,3 cases with the right ear,and 4 cases with the double ears. Conclusion The use of ge?netic deafness gene chip to do the molecular diagnostics in pregnant women can be convenient,fast and efficient for prenatal diagnosis of deafness, which provides a theoretical basis and good method for reducing the birth rate of deaf children and should be popularized more widely.

Expressions of interferon-inducible genes in patients with systemic lupus erythematosus and their assoc-iation with disease activity / 中华风湿病学杂志

Objective To investigate the expression levels of interferon-inducible genes (IFIT1,IFIT4,OAS1,OASL,ISG15) in the peripheral blood mononuclear cells (PBMCs) of patients with systemic lupus erythematosus(SLE).and the relations between these genes expression levels and disease activity are explored.Methods Sybr green dye based real-time quantitative PCR method was used to detect the expression levels (indicated as-△△Ct value) of WIT1,IFIT4.OAS1,OASL and ISG15 in 76 patients with SJJE and 54 controls.Their expression levels were compared with erythroeyte sedimentation rate (ESR),serum C reactive protein (CRP),complement C3,C4.antinuclear antibody (ANA).anti-double stranded DNA antibody.The associations between the expression levels of IFIT1,IFIT4,OASI.OASL,ISG15,ESR,CRP,complement C3,C4,ANA,anti-double stranded DNA antibody and SLEDAI scores in patients with SLE were analyzed.Results ① The expression levels of WIT1,IFIT4,OAS1,OASL and ISG15 in the SLE patients were significantly higher than those of the normal controls (P＜0.01).The expression levels of IFIT1,IFIT4,OAS1,OASL and ISG15 in active SLE patients were higher than those of inactive SLE patients (P＜0.05).The real time expression levels of IFIT1,IFIT4,OAS1.OASL and ISG15 showed positive correlations with each other (r＞0.5,P＜0.05) in patients with SLE.② The expression levels of IFIT1,IFIT4,OAS1,OASL and ISG15 were positively correlated with the SLEDAI scores (r＞0.5,P＜0.05).③ There was no correlation between ESR,CRP,complement C3,C4,ANA and the expression levels of IFIT1,IFIT4,OAS1,OASL,ISG15,SLEDAI scores except anti-double stranded DNA antibody (r＞0.5.P＜0.05).Conclusion The expression levels of IFIT1,IFIT4,OAS1,OASL and ISG15 in patients with SLE are significantly higher than those of the normal controls,and positively associated with SLEDAI scores,so they are helpful in evaluating SLE disease activity and severity.IFIT1,IFIT4,OAS1,OASL and ISG15 genes may be the potential treating targets for SLE.