Objective To observe the value of middle urethral motion and sphincter elasticity for diagnosing female stress urinary incontinence(SUI).Methods Totally 97 female patients,including 52 with SUI(SUI group)and 45 without SUI(control group)were prospectively enrolled.Pelvic floor ultrasound was performed under resting state and the maximum Valsalva maneuver,respectively,and bladder neck mobility(BND),upper-lower mobility of middle urethra(UMupper-lower),anterior-posterior mobility of middle urethra(UM anterior-posterior),elasticity parameter of the anterior wall of middle urethral sphincter(ΔEanterior wall),as well as elasticity parameter of the posterior wall of middle urethral sphincter(ΔEposterior wall)were measured.Patients'general data and the above ultrasound parameters were compared between groups,and the efficacy of them for diagnosing SUI was analyzed.Results Significant differences of BND,UM upper-lower,ΔEanterior wall and ΔEposterior wall,of also the proportion of lateral episiotomy history were found between groups(all P＜0.05).Among them,UMupper-lower,ΔEanterior wall and ΔEposterior wall were all correlated with female SUI(rs=0.231,-0.533,-0.428,all P＜0.05).The area under the curve(AUC)of UMupper-lower,ΔEanterior wall,ΔEposterior wall and their combination for diagnosing SUI was 0.634,0.820,0.748 and 0.867,respectively.The AUC of the combination was significantly higher than that of each parameter alone(all P＜0.001).Conclusion The combination of middle urethral motion and sphincter elasticity was helpful for diagnosing female SUI.

Objective To observe the value of traditional pelvic floor ultrasound parameters combined with middle urethral sphincter elasticity parameters for diagnosing female stress urinary incontinence(SUI).Methods Fifty two female SUI patients(SUI group)and 45 healthy women(control group)were prospectively enrolled.Traditional pelvic floor ultrasound parameters and middle urethral sphincter elasticity parameters were compared between groups,and logistic regression analysis was performed,the efficacy of each parameter alone and their combination for diagnosing SUI was analyzed.Results Significant differences of bladder neck descent(BND),urethral rotation angle(URA),posterior urethrovesical angle(PUA),shear modulus of the middle urethral anterior wall sphincter at rest state(Q1),shear modulus of the middle urethral anterior wall sphincter under maximum Valsalva maneuver(Q2),and shear modulus of the middle urethral posterior wall sphincter at resting-state(H1)were found between groups(all P＜0.05).BND,PUA,Q1 and Q2 were all influencing factors of female SUI(all P＜0.05),with the area under the curve(AUC)for diagnosing SUI of 0.721,0.718,0.659 and 0.288,respectively.Then traditional ultrasound model,elasticity ultrasound model and combined model were constructed based on traditional pelvic floor ultrasound parameters(BND,PUA),middle urethral sphincter elasticity parameters(Q1,Q2)and their combination,respectively,with AUC for diagnosing SUI of 0.837,0.754 and 0.908,respectively.The AUC of combined model was higher than that of traditional ultrasound model,elasticity ultrasound model and each ultrasound parameter alone(all P＜0.05).Conclusion Traditional pelvic floor ultrasound parameters combined with middle urethral sphincter elasticity parameters had high value for diagnosing female SUI.

Objective To observe the value of traditional pelvic floor ultrasound parameters combined with middle urethral sphincter elasticity parameters for diagnosing female stress urinary incontinence(SUI).Methods Fifty two female SUI patients(SUI group)and 45 healthy women(control group)were prospectively enrolled.Traditional pelvic floor ultrasound parameters and middle urethral sphincter elasticity parameters were compared between groups,and logistic regression analysis was performed,the efficacy of each parameter alone and their combination for diagnosing SUI was analyzed.Results Significant differences of bladder neck descent(BND),urethral rotation angle(URA),posterior urethrovesical angle(PUA),shear modulus of the middle urethral anterior wall sphincter at rest state(Q1),shear modulus of the middle urethral anterior wall sphincter under maximum Valsalva maneuver(Q2),and shear modulus of the middle urethral posterior wall sphincter at resting-state(H1)were found between groups(all P＜0.05).BND,PUA,Q1 and Q2 were all influencing factors of female SUI(all P＜0.05),with the area under the curve(AUC)for diagnosing SUI of 0.721,0.718,0.659 and 0.288,respectively.Then traditional ultrasound model,elasticity ultrasound model and combined model were constructed based on traditional pelvic floor ultrasound parameters(BND,PUA),middle urethral sphincter elasticity parameters(Q1,Q2)and their combination,respectively,with AUC for diagnosing SUI of 0.837,0.754 and 0.908,respectively.The AUC of combined model was higher than that of traditional ultrasound model,elasticity ultrasound model and each ultrasound parameter alone(all P＜0.05).Conclusion Traditional pelvic floor ultrasound parameters combined with middle urethral sphincter elasticity parameters had high value for diagnosing female SUI.

Objective To observe the value of middle urethral motion and sphincter elasticity for diagnosing female stress urinary incontinence(SUI).Methods Totally 97 female patients,including 52 with SUI(SUI group)and 45 without SUI(control group)were prospectively enrolled.Pelvic floor ultrasound was performed under resting state and the maximum Valsalva maneuver,respectively,and bladder neck mobility(BND),upper-lower mobility of middle urethra(UMupper-lower),anterior-posterior mobility of middle urethra(UM anterior-posterior),elasticity parameter of the anterior wall of middle urethral sphincter(ΔEanterior wall),as well as elasticity parameter of the posterior wall of middle urethral sphincter(ΔEposterior wall)were measured.Patients'general data and the above ultrasound parameters were compared between groups,and the efficacy of them for diagnosing SUI was analyzed.Results Significant differences of BND,UM upper-lower,ΔEanterior wall and ΔEposterior wall,of also the proportion of lateral episiotomy history were found between groups(all P＜0.05).Among them,UMupper-lower,ΔEanterior wall and ΔEposterior wall were all correlated with female SUI(rs=0.231,-0.533,-0.428,all P＜0.05).The area under the curve(AUC)of UMupper-lower,ΔEanterior wall,ΔEposterior wall and their combination for diagnosing SUI was 0.634,0.820,0.748 and 0.867,respectively.The AUC of the combination was significantly higher than that of each parameter alone(all P＜0.001).Conclusion The combination of middle urethral motion and sphincter elasticity was helpful for diagnosing female SUI.

Objective To investigate the modulatory effect of Yulian Pills(composed of Coptidis Rhizoma and Euodiae Fructus)on splenic memory follicular T helper cell(mTfh)in mice with dextran sodium sulfate(DSS)-induced ulcerative colitis.Methods Forty BALB/c mice were randomly divided into normal group,model group,Yulian Pills group(0.5 g·kg-1)and Mesalazine group(0.3 g·kg-1),10 mice in each group.The mouse model of ulcerative colitis was induced by ad libitum drinking 3%DSS solution for 7 days.During the experiment,the mental state,faecal characteristics,blood in stool and body mass of the mice were recorded daily,and the length and mass of the colon were measured and the colon mass index was calculated;HE staining was used to observe the pathological and morphological changes of the colon tissue;ELISA was used to determine the expression levels of interleukin(IL)-6 and IL-15 in the colon tissues;flow cytometry was used to determine the mTfh cell subpopulation in the spleen tissue expression;Western Blot was used to determine the protein expression levels of Roquin-1,AMPK-α,p-AMPK-α in colon tissues.Results Compared with the normal group,the mice in the model group showed a significant decrease in body mass(P＜0.01),a significant shortening of colon length(P＜0.01),significant increase in colon mass(P＜0.05)and colon mass index(P＜0.01),and severe pathological damage to colon tissues;the expression levels of the pro-inflammatory cytokines IL-6 and IL-15 in the colon tissues were significantly increased(P＜0.01);cell expression levels of CD4+CCR7-CXCR5+CD62L+,CD4+CCR7+CXCR5+ GL7+,CD4+CCR7-CXCR5+GL7+ were significantly increased in spleen tissues(P＜0.01),whereas the expression level of CD4+CCR7+CXCR5+CD62L+ cell was significantly decreased(P＜0.01);and protein expression levels of Roquin-1,AMPK-α,p-AMPK-α were significantly reduced in the colonic tissues(P＜0.05).Compared with the model group,mice in the Yulian Pills group and Mesalazine group showed a significant increase in body mass(P＜0.05),a significant extension of colon length(P＜0.01),a significant reduction in colon mass(P＜0.05),a significant decrease in the colon mass index(P＜0.01),and a more obvious improvement in pathological damage of the colon tissues;a significant decrease in the expression levels of IL-6 and IL-15 in the colon tissues(P＜0.01);cell expression levels of CD4+CCR7-CXCR5+CD62L+,CD4+CCR7+CXCR5+GL7+,CD4+CCR7-CXCR5+GL7+ in splenic tissues was significantly reduced(P＜0.01),whereas the expression level of CD4+CCR7+CXCR5+CD62L+ cell was significantly increased(P＜0.01);the protein expression levels of Roquin-1,AMPK-α,and p-AMPK-α were significantly increased in colon tissues(P＜0.05,P＜0.01).Conclusion The therapeutic effect of Yulian Pills on DSS-induced ulcerative colitis mice can ameliorate the histopathological damage of colon,which may be related to the activation of the Roquin-1/MPK-α signalling pathway,the down-regulation of the expressions of inflammatory cytokines IL-6 and IL-15,and the modulation of the homeostasis of the mTfh cell subpopulation.

Objective:To investigate the safety and efficacy of echocardiography-guided trans-right-ventricular percutaneous intramyocardial septal radiofrequency ablation (PIMSRA) in a healthy sheep model, and to observe the pathological changes of myocardium in ablation area one year later.Methods:Twelve sheep were divided into PIMSRA group ( n=6) and sham group ( n=6). In PIMSRA group, a radiofrequency (RF) electrode was inserted to the interventricular septum (IVS) with maximum power of 80 Watts for 5 minutes. In the sham group, RF electrode tip was positioned in IVS segment but without the RF power delivery. Electrocardiogram (ECG), echocardiography, myocardial contrast echocardiography(MCE) were performed to assess the efficacy of PIMSRA at postoperative immediately, 2-week, 1-month, 2-month, 3-month, 6-month and 12-month during the follow-up. The following parameters were recorded, including the thickness of ablation area, the systolic wall thickening rate and amplitude of movement of the ablated region, left ventricular outflow tract pressure gradient (LVOT PG), and left ventricular ejection fraction (LVEF), mitral valve early diastolic peak velocity(E), late diastolic peak velocity(A) and the E/A ratio, peak velocity of early diastolic mitral annular motion(E′), peak velocity of late diastolic mitral annular motion(A′), and the E′/A′ ratio.For both groups, the myocardial biomarkers of troponin I, myoglobin and isoenzymes of creatine kinase were tested before the ablation and 3 h after the ablation, and again after 2 weeks. Tissue pathology examinations were performed at the end of study. Results:None of the animals in both groups was observed to have pericardial tamponade during perioperative period.Immediately after the procedure, septal hypokinesis was seen in all PIMSRA group animals, the systolic wall thickening rate and amplitude of movement of the ablated region were significantly decreased ( P<0.001), which was sustained until 12 months.In Sham group, there were no significant differences in the wall thickening rate and amplitude of movement of the operated region(all P>0.05).The thickness of the ablation area in the PIMSRA group was significantly increased immediately after the procedure( P<0.001), decreased to baseline level at 1-week ( P=0.931), and significantly increased at 3-month ( P<0.001).In the Sham group, the IVS thickness was significantly increased immediately after the procedure( P=0.005), decreased to baseline level at 1-week ( P=0.027), then has no further significant changes.There were no significant differences in LVEF, E/A, E′/A′ between PIMSRA and Sham group(all P>0.05).MCE showed the thickness of the ablation area was significantly decreased in the PIMSRA group 12 months after the operation.In both groups, troponin I increased significantly 3 h after the operation(all P<0.005), which decreased to baseline level 2 weeks later(all P>0.05). ECG showed that all the sheep had normal sinus rhythm. Pathological examinations revealed the tissue in the ablation area was fibrotic, having clear boundary with the surrounding normal tissue and no carbonization was observed 1 year later. Conclusions:Echocardiography-guided trans-right-ventricular PIMSRA produced precisely ablated myocardial tissues, reduced the IVS thickness significantly, preserved the global left ventricular function. All the sheep had normal sinus rhythm and without pericardial tamponade in 1 year follow-ups. Echocardiography-guided trans-right-ventricular PIMSRA is a safe and effective minimally invasive treatment for septal reduction therapy.

Objective:To investigate the efficacy and safety of fecal microbiota transplantation (FMT) in the treatment of irritable bowel syndrome (IBS), and to explore the effects of FMT on the gut microbiota of IBS patients.Methods:From September 2016 to August 2017, at Guangzhou First People′s Hospital, 28 hospitalized IBS patients who underwent FMT treatment were enrolled. Before FMT, four and 12 weeks after FMT, all the IBS patients completed the irritable bowel syndrome quality of life scale (IBS-QOL), irritable bowel syndrome severity scoring system (IBS-SSS) and gastrointestinal symptom rating scale (GSRS). 16S rDNA sequencing was performed before FMT and four weeks after FMT. The effects of FMT on gut microbiota diversity and microbiota structure of IBS patients were analyzed respectively from the level of phylum, family and genus, and linear discriminant analysis effect size (LEfSe) was further used to screen the different bacteria. Paired t test and paired rank sum test were used for statistical analysis. Results:Twelve weeks after FMT, the scores of the six dimensions of IBS-QOL including dysthymia, behavioral disorder, auto imagery, health concerns, eating avoidance, and relationship expansion were all lower than those before FMT (43.750, 22.656 to 56.250 vs. 48.438, 32.031 to 60.938; 37.500, 18.750 to 56.250 vs. 46.429, 21.429 to 62.500; 31.250, 14.063 to 42.188 vs. 31.250, 18.750 to 50.000; 41.667, 27.083 to 56.250 vs. 50.000, 41.667 to 66.667; 54.167, 43.750 to 72.917 vs. 66.667, 58.333 to 83.333; 8.333, 0.000 to 33.333 vs. 16.667, 8.333 to 33.333, respectively), and the differences were statistically significant ( Z=-2.157, -3.429, -2.274, -3.197, -3.042 and -2.329, all P<0.05). Twelve weeks after FMT, the scores of the two dimensions of IBS-QOL including behavioral disorder and relationship expansion were both lower than those of four weeks after FMT (37.500, 18.750 to 56.250 vs. 39.286, 19.643 to 62.500 and 8.333, 0.000 to 33.333 vs. 16.670, 2.083 to 41.667, respectively), and the differences were statistically significant ( Z=-1.998 and -2.110, both P<0.05). Four and 12 weeks after FMT, the scores of IBS-SSS and GSRS were both lower than those before FMT ((190.32±106.51), (201.43±102.48) vs. (245.93±86.10) and 5.50, 4.00 to 9.00 and 5.50, 4.00 to 8.75 vs. 7.00, 6.00 to 9.75), and the differences were statistically significant ( t=4.402 and 3.848, Z=-3.081 and -3.609; all P<0.01). No serious adverse reactions occurred in the patients after FMT. At the phylum level, after FMT the abundance of Verrucomicrobia in the feces of IBS patients was richer than that before FMT (6.74% vs. 0.37%); at the family level, after FMT the abundance of Verrucomicrobiaceae in the feces of IBS patients was richer than that before FMT (6.74% vs. 0.37%); at the genus level, after FMT the abundance of Akkermansia was richer than that before FMT (6.74% vs. 0.37%); and the differences were statistically significant (all Z=-2.589, all P=0.010). The results of LEfSe method indicated that four weeks after FMT the abundance of Akkermansia in the gut microbiota of IBS patients was richer than that before FMT (6.74% vs. 0.37%), and the difference was statistically significant (linear discriminant analysis value=4.5, P=0.049). Conclusions:FMT is safe and effective in the treatment of IBS. The mechanism may be through upregulating the diversity of gut microbiota and changing the structure of gut microbiota of IBS patients.

Objective: To analyze the genetic characteristics of a five generations pedigree with homozygous familial hypercholesterolemia (HoFH). Methods: Prospective study. Twenty family members included a proband diagnosed as familial hyperlipidemia at the cardiology Department of Xi′an Children′s Hospital in October 2018 were research object. Clinical data were collected. Genome DNAs were extracted. Whole exons sequencing was performed on the proband using target capture next generation sequencing. Candidate gene mutation sites identified by bioinformatics were verified by Sanger sequencing in the family members. The genotype-phenotype correlation of the pedigree was analyzed between heterozygous mutation carriers and non-carriers. Results: The proband was a 7-years and 10-month-old boy. He was born with a roundgreen bean size yellow skin protuberance in the skin of the coccyx. Since the age of 3-4 years old, xanthoma-like lesions with a diameter of 0.5-1.5 cm gradually appeared in the skin of bilateral elbow joints, knee joints and Achilles tendon. The height, weight and intellectual development of the child were the same as those of normal children at the same age. No similar xanthoma-like lesion was found in the other family members. The proband′s total cholesterol (TC) reached 18.16-21.24 mmol/L, and his low density lipoproteincholesterol (LDL-C) was 14.08-15.51 mmol/L. Carotid ultrasonography showed diffuse sclerotic plaques in bilateral carotid and vertebral arteries, and color Doppler echocardiography revealed aortic valve thickening and calcification. Gene testing identified that the proband carried a homozygous mutation C. 418G>A (p. E140K) in LDLR gene inherited from his parents who had a consanguineous marriage and carried a heterozygous mutation of LDLR-E140K, respectively.The TC, LDL-C and apolipoproteinB (ApoB) of LDLR-E140K gene heterozygous carriers ((8.40±0.13), (6.79±0.01) and (1.95±0.05) mmol/L, respectively) were significantly higher than those of non-carriers ((4.59±0.28), (3.35±0.39) and (0.86±0.10) mmol/L, t=7.269, 4.595, 6.311, respectively, P<0.05). Conclusions LDLR-E140K gene homozygous mutation is first reported to be associated with most severe phenotype HoFH. The genotype-phenotype analysis of the pedigree shows that the clinical phenotype of the proband with homozygous mutation is the most serious, and all the heterozygous mutation carriers present with hypercholesterolemia phenotype. The investigation confirms that LDLR-E140K is the pathogenic variation of familial hyperlipidemia.

Objective To investigate the percentage of regulatory T cells (Treg) in peripheral blood lymphocytes of patients with chronic brucellosis and the percentage change before and after treatment of different regimens,and to analyze the influence of Treg cell-induced immunosuppression on the therapeutic effect of chronic stage brucellosis.Methods Using case-control study,35 patients with chronic brucellosis who were hospitalized in Heilongjiang General Hospital of Agriculture Bureau [28 males,7 females,aged (45.37 ± 20.16) years old] were selected as case group.According to the treatment regimen,they were divided into standard treatment group (15 cases) and immune enhancer group (20 cases),the treatment was 20 d;30 cases of in-hospital health examinations were selected [16 males and 14 females,aged (35.53 ± 11.38) years old] as control group.Peripheral blood sample of the subject was collected before and after the treatment,the Treg cells as a percentage in peripheral blood lymphocytes were detected by flow cytometry.And the percentage change of Treg cells of brucellosis patients who underwent different treatment regimens was analyzed.Results Before treatment,the percentage of Treg cells in peripheral blood lymphocytes of the control group,the standard therapy and the immune enhancer groups [(1.69 ± 0.38)％,(3.12 ± 0.86)％,(3.05 ± 1.07)％] was significantly different (F =25.89,P ＜ 0.05);compared with the control group,the percentage of Treg cells in the peripheral blood lymphocytes of the standard treatment group and the immune enhancer group increased (P ＜ 0.05);there was no significant difference between the standard treatment group and the immune enhancer group (P ＞ 0.05).After treatment,the percentage of Treg cells in peripheral blood lymphocytes of the control group,the standard therapy and the immune enhancer groups [(1.69 ± 0.38)％,(3.06 ± 0.76)％,(2.85 ± 0.89)％] was significantly different (F =30.84,P ＜ 0.05);compared with the control group,the percentage of Treg cells in the peripheral blood lymphocytes of the standard treatment group and the immune enhancer group increased (P ＜ 0.05);there was no significant difference between the standard treatment group and the immune enhancer group (P ＞ 0.05),and compared with the same group before the treatment,respectively,the differences were not statistically significant (P ＞ 0.05).Conclusions The percentages of Treg cells in peripheral blood lymphocytes of the chronic brucellosis patient are not significantly changed before and after different treatment regimens.It suggests that the immunesuppression induced by Treg cells may be one of the reasons why the host organism cannot effectively remove residual Brucella in the body,which leads to chronic infection.

OBJECTIVE: To carry out mutation analysis and prenatal diagnosis for a family affected with primary carnitine deficiency. METHODS: Genomic DNA of the proband was extracted from peripheral blood sample 10 days after birth. The 10 exons and intron/exon boundaries of the SLC22A5 gene were subjected to PCR amplification and Sanger sequencing. The proband's mother was pregnant again two years after his birth. Fetal DNA was extracted from amniocytes and subjected to PCR and Sanger sequencing. RESULTS: Tandem mass spectrometric analysis of the proband revealed low level of plasma-free carnitine whilst organic acids in urine was normal. Compound heterozygous SLC22A5 mutations c.1195C>T (inherited from his father) and c.517delC (inherited from his mother) were detected in the proband. Prenatal diagnosis has detected no mutation in the fetus. The plasma-free carnitine was normal after birth. CONCLUSION Appropriate genetic testing and prenatal diagnosis can prevent further child with carnitine deficiency. The identification of c.517delC, a novel mutation, enriched the spectrum of SLC22A5 mutations.
Cardiomyopathies ; genetics ; Carnitine ; deficiency ; genetics ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Hyperammonemia ; genetics ; Muscular Diseases ; genetics ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Solute Carrier Family 22 Member 5 ; genetics