Prenatal diagnosis and genetic analysis of a fetus with partial deletion of Yq and mosaicism of 45,X / 中华医学遗传学杂志

OBJECTIVE@#To carry out prenatal diagnosis and genetic analysis for a fetus with disorders of sex development (DSDs).@*METHODS@#A fetus with DSDs who was identified at the Shenzhen People's Hospital in September 2021 was selected as the study subject. Combined molecular genetic techniques including quantitative fluorescence PCR (QF-PCR), multiplex ligation-dependent probe amplification (MLPA), chromosomal microarray analysis (CMA), quantitative real-time PCR (qPCR), as well as cytogenetic techniques such as karyotyping analysis and fluorescence in situ hybridization (FISH) were applied. Ultrasonography was used to observe the phenotype of sex development.@*RESULTS@#Molecular genetic testing suggested that the fetus had mosaicism of Yq11.222qter deletion and X monosomy. Combined with the result of cytogenetic testing, its karyotype was determined as mos 45,X[34]/46,X,del(Y)(q11.222)[61]/47,X,del(Y)(q11.222),del(Y)(q11.222)[5]. Ultrasound examination suggested hypospadia, which was confirmed after elective abortion. Combined the results of genetic testing and phenotypic analysis, the fetus was ultimately diagnosed with DSDs.@*CONCLUSION@#This study has applied a variety of genetic techniques and ultrasonography to diagnose a fetus with DSDs with a complex karyotype.

Systemic lupus erythematosus with acquired hemophilia A: A case report and literature review / 中南大学学报(医学版)

Systemic lupus erythematosus (SLE) complicated with acquired hemophilia A (AHA) is a rare condition with frequently delayed diagnosis and a high mortality rate, so it is necessary to strengthen the understanding of this disease. In this study, the characteristics and treatment in 1 case of SLE complicated by AHA is reported and analyzed, and a literature review is conducted. The patient was a 29-year-old young female with a 10-year history of SLE, the main clinical manifestation was severe abdominal bleeding. Laboratory tests revealed that the activated partial thromboplastin time (APTT) was notably prolonged (118.20 s), and the coagulation factor VIII activity (FVIII꞉C) was extremely decreased (0.20%) with high-titer of factor VIII (FVIII) inhibitor (31.2 BU/mL). After treating with high-dose glucocorticoid, immunoglobulin, cyclophosphamide, rituximab, blood transfusion, and intravenous infusion of human coagulation FVIII, the coagulation function and coagulation FVIII꞉C were improved, and FVIII inhibitor was negative without serious adverse reactions. During the next 5-year follow-up, the patient's condition was stable and no bleeding occurred. In the case of coagulation dysfunction in SLE, especially with isolated APTT prolongation, AHA should be screened. When the therapeutic effects of glucocorticoid combined with immunosuppressants are not desirable, rituximab could be introduced.

Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation / 亚洲男科学杂志(英文版)

This study aims to characterize the cell atlas of the epididymis derived from a 46,XY disorders of sex development (DSD) patient with a novel heterozygous mutation of the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene. Next-generation sequencing found a heterozygous c.124C>G mutation in NR5A1 that resulted in a p.Q42E missense mutation in the conserved DNA-binding domain of NR5A1. The patient demonstrated feminization of external genitalia and Tanner stage 1 breast development. The surgical procedure revealed a morphologically normal epididymis and vas deferens but a dysplastic testis. Microfluidic-based single-cell RNA sequencing (scRNA-seq) analysis found that the fibroblast cells were significantly increased (approximately 46.5%), whereas the number of main epididymal epithelial cells (approximately 9.2%), such as principal cells and basal cells, was dramatically decreased. Bioinformatics analysis of cell-cell communications and gene regulatory networks at the single-cell level inferred that epididymal epithelial cell loss and fibroblast occupation are associated with the epithelial-to-mesenchymal transition (EMT) process. The present study provides a cell atlas of the epididymis of a patient with 46,XY DSD and serves as an important resource for understanding the pathophysiology of DSD.

Correlation of endoscopic evaluation with laboratory indices and clinical disease activity in Crohn disease patients with different intestinal involvement / 中华消化内镜杂志

Objective:To investigate the correlations of endoscopic evaluation results with laboratory indices and clinical disease activity in Crohn disease (CD) patients with different intestinal involvement.Methods:Data of 147 patients diagnosed as having CD who visited the Department of Gastroenterology, Zhongnan Hospital of Wuhan University from July 1, 2017 to June 30, 2022 were collected retrospectively. According to the involvement of intestinal segment, patients were divided into three groups: the group with isolated small intestinal involvement ( n=55), the group with both small intestinal and large intestinal involvement ( n=48), and the group with isolated large intestinal involvement ( n=44). Correlations of endoscopic evaluation (based on CDEIS) with laboratory indices and clinical disease activity (based on Harvey-Bradshaw index) were analyzed. Results:C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) could be used for the prediction of endoscopic disease activity. The areas under curve (AUC) of receiver operator characteristic (ROC) were 0.677 (0.506-0.849) and 0.744 (0.597-0.890), respectively. In terms of determing clinical disease activity, clinical Harvey-Bradshaw index was consistent with endoscopic CDEIS score in 65.3% (96/147) patients, showing a low positive correlation ( r=0.260, P<0.05). In subgroup analysis for patients with isolated small intestinal involvement, CRP showed no predictive value for clinical disease activity [AUC (95% CI): 0.617 (0.461-0.773), P=0.148], while for endoscopic activity neither CRP nor ESR showed predictive value [AUC (95% CI): 0.537 (0.146-0.929), P=0.829; AUC (95% CI): 0.571 (0.153-0.990), P=0.680]. Furthermore, for patients with isolated small intestinal involvement and both small intestinal and large intestinal involvement, no correlation was found between clinical Harvey-Bradshaw index and endoscopic CDEIS score ( r=0.222, P=0.092; r=0.142, P=0.322). Conclusion:For CD patients with small intestinal involvement, especially isolated small intestinal involvement, laboratory indices and clinical disease activity cannot accurately reflect endoscopic disease activity. Great importance should be attached to evaluation of the extent and activity of intestinal lesions by endoscopy, especially enteroscopy.

Analysis on the risk factors and establishment of a prediction model for primary non-response to the treatment of anti-tumor necrosis factor-α monoclonal antibody in Crohn′s disease patients / 中华消化杂志

Objective:To investigate the risk factors and establish a prediction model of primary non-response (PNR) to anti-tumor necrosis factor-α(TNF-α) monoclonal antibody in Crohn′s disease (CD) patients.Methods:From December 1, 2018 to July 31, 2022, 103 patients with CD treated with the anti-TNF-α monoclonal antibody in Renmin Hospital of Wuhan University were enrolled (modeling group), and at the same time, 109 patients with CD treated with anti-TNF-α monoclonal antibody in Zhongnan Hospital of Wuhan University were selected (validation group). The baseline clinical data of all the patients before the first treatment of anti-TNF-α monoclonal antibody were collected, which included C-reactive protein (CRP), the simplified Crohn′s disease activity index (CDAI), and modified multiplier simple endoscopic score for Crohn′s disease (MM-SES-CD), etc. Multivariate logistic regression was used to screen the independent risk factors of PNR in patients with CD treated with the anti-TNF-α monoclonal antibody, and to establish the nomograms prediction model. The area under the curve (AUC) of the receiver operating characteristic curve (ROC), the net reclassification index (NRI), integrated discrimination improvement index (IDI), and decision curve analysis (DCA) were used to evaluate the predictive efficacy and clinical application value of the prediction model. DeLong test was used for statistical analysis.Results:The results of multivariate logistic regression analysis showed that high level of CRP ( OR=1.030, 95% confidence interval (95% CI) 1.002 to 1.059), simplified CDAI ( OR=1.399, 95% CI 1.023 to 1.913), and MM-SES-CD ( OR=1.100, 95% CI 1.025 to 1.181) in baseline were independent risk factors of PNR in patients with CD treated with the anti-TNF-α monoclonal antibody ( P=0.033, 0.036 and 0.008). The results of ROC analysis showed that the AUCs of CRP, simplified CDAI, MM-SES-CD, and the prediction model in the modeling group and the validation group were 0.697(95% CI 0.573 to 0.821), 0.772(95% CI 0.666 to 0.879), 0.819(95% CI 0.725 to 0.912), 0.869 (95% CI 0.786 to 0.951) and 0.856 (95% CI 0.756 to 0.955), respectively. The AUC of the prediction model in the modeling group was greater than those of CRP and simplified CDAI, and the differences were statistically significant ( Z=3.00 and 2.75, P=0.003 and 0.006), while compared with MM-SES-CD and the validation group, the differences were not statistically significant (both P>0.05). However, compared with MM-SES-CD, the NRI and IDI of the prediction model in the modeling group were 0.205(95% CI 0.002 to 0.409, P=0.048) and 0.098(95% CI 0.022 to 0.174, P=0.011), respectively, suggesting that the predictive ability of the prediction model was better than that of MM-SES-CD. The results of DCA indicated that the prediction model had significant clinical benefits in both the modeling group and the validation group. Conclusions:A prediction model was successfully constructed based on the independent risk factors for PNR in patients with CD treated with the anti-TNF-α monoclonal antibody. After verification, the prediction model has good prediction performance and significant clinical benefits.

Clinical and genetic analysis of a case of Turner syndrome with rapidly progressive puberty and a literature review / 中华医学遗传学杂志

OBJECTIVE@#To investigate the clinical features and genetic etiology of a case of Turner syndrome (TS) with rapidly progressive puberty.@*METHODS@#A child who had presented at the Pediatric Endocrinology Clinic of the Shenzhen People's Hospital on January 19, 2022 was selected as the study subject. Clinical data of the child were collected. Peripheral blood sample of the child was subjected to chromosomal microarray analysis (CMA) and multiple ligation-dependent probe amplification (MLPA). Previous studies related to TS with rapidly progressive puberty were retrieved from the CNKI, Wanfang Data Knowledge Service Platform, Boku, CBMdisc and PubMed databases with Turner syndrome and rapidly progressive puberty as the keywords. The duration for literature retrieval was set from November 9, 2021 to May 31, 2022. The clinical characteristics and karyotypes of the children were summarized.@*RESULTS@#The child was a 13-year-and-2-month-old female. She was found to have breast development at 9, short stature at 10, and menarche at 11. At 13, she was found to have a 46,X,i(X)(q10) karyotype. At the time of admission, she had a height of 143.5 cm (< P3), with 6 ~ 8 nevi over her face and right clavicle. She also had bilateral simian creases but no saddle nasal bridge, neck webbing, cubitus valgus, shield chest or widened breast distance. She had menstruated for over 2 years, and her bone age has reached 15.6 years. CMA revealed that she had a 58.06 Mb deletion in the Xp22.33p11.1 region and a 94.49 Mb duplication in the Xp11.1q28 region. MLPA has confirmed monosomy Xp and trisomy Xq. A total of 13 reports were retrieved from the CNKI, Wanfang Data Knowledge Service Platform, Boku, CBMdisc and PubMed databases, which had included 14 similar cases. Analysis of the 15 children suggested that their main clinical manifestations have included short stature and growth retardation, and their chromosomal karyotypes were mainly mosaicisms.@*CONCLUSION@#The main clinical manifestations of TS with rapidly progressive puberty are short stature and growth retardation. Deletion in the Xp22.33p11.1 and duplication in the Xp11.1q28 probably underlay the TS with rapid progression in this child, which has provided a reference for clinical diagnosis and genetic counselling for her.

Differences between Chinese men and women with adult-onset non-radiographic axial spondyloarthritis / 中华风湿病学杂志

Objective:To explore the clinical characteristics of adult-onset non-radiographic axial spondyloarthritis (nr-axSpA) in different genders.Methods:A total of 662 patients with adult-onset nr-axSpA (age at disease onset ≥16 years) who visited the Rheumatology Department of the First Affiliated Hospital of Shantou University Medical College from 1999 to 2020 were included in the study. Comparisons of baseline demographic and clinical characteristics between different genders were performed.Results:Overall, the male-to-female ratio was 1.17∶1, and the prevalence of human leukocyte antigen-B27 (HLA-B27) positivity was 71.8%(475/662). The median baseline disease duration and age at diagnosis was 1.6 (0.5, 4.0) years and 25.0 (21.0, 33.0) years respectively. The males had a significantly earlier age at disease onset and diagnosis [21.0 (18.0, 28.0) vs 25.0 (21.0, 30.0), Z=5.63, P<0.001; 24.0 (19.0, 32.0) vs 27.0 (23.0, 34.5), Z=4.90, P<0.001, respectively] than females. HLA-B27 positivity was more frequent in males than in females [78.4% (280/357) vs 63.9%(195/305), χ2=17.06, P<0.001]. The prevalence of inflammatory back pain (IBP), morning stiffness, nocturnal pain, enthesitis, hip and groin pain were higher in males, whereas females showed a higher prevalence of small joint involvement of the hands. At baseline, males had higher median ankylosing spondylitis disease activity score (ASDAS)-C-reaction protein (CRP) [3.0(2.3, 3.8) vs 2.4(2.0, 3.0), Z=5.59, P<0.001] and a greater prevalence of high disease activity ASDAS-CRP>2.1 [81.9%(185/227) vs 67.9%(133/195), χ2=11.08, P=0.001] than females. The proportions of male patients with elevated CRP levels and erythrocyte sedimentation rate (ESR) were also higher than those of female patients [49.0%(175/357) vs 27.9%(85/305), χ2=30.85, P<0.001; 49.3%(176/357) vs 33.4%(102/305), χ2=16.98, P<0.001, respectively]. Conclusion:The adult-onset nr-axSpA in China is characterized by a comparable sex ratio. Males have an earlier age at disease onset and are higher HLA-B27 positivity with higher prevalence of IBP, enthesitis, hip and groin pain, as well as high disease activity.

Genetic analysis of a family with 9q34.3 microdeletion and microduplication caused by abnormal chromosome balance structure / 中华医学遗传学杂志

OBJECTIVE@#To perform prenatal diagnosis, pedigree analysis, and genetic counseling of a pregnant woman who gave birth to a child with Kleefstra syndrome.@*METHODS@#Karyotype analysis, chromosomal microarray analysis (CMA), multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH) were used of peripheral blood and amniotic fluid to find causes. Recurrence risk assessment was performed later.@*RESULTS@#The amniotic fluid sample showed a 9q34.3 microduplication of arr (hg19) 9q34.3 (140 168 806-141 020 389)× 3, which overlapped the 9q34.3 microdeletion region of proband. The pregnant woman was detected with a balanced translocation of ish, t(9;17)(9q34.3; qter) (9p+; 17p+,9q+, 17q+). No other abnormal results were found in the family.@*CONCLUSION@#Offspring who share the same chromosome segment deletion or duplication are always from parent who carries balanced chromosomal structural aberration.

Researches on Mesenchymal Stem Cells for Treatment of Spinal Cord Injury: A Visualization Analysis / 中国康复理论与实践

Results and Conclusion A total of 236 authors were included, out of whom 49 authors published more than three papers, and high-yielding authors were mainly represented by Zeng Y S and Chen L. There were 162 countries/institutions involved, out of which 85 published more than three papers. Seventy-five journals were included, out of which Exp Neurol was the one with the most articles. There were 107 key words included, and the hot words were spinal cord injury, MSCs, transplantation, bone marrow, repair, and functional recovery, which formed six cluster groups. The trend was to extract and culture progenitor cells and induce their directional differentiation; mechanism of immune regulation, anti-inflammatory and nerve regeneration in the treatment of spinal cord injury by MSCs, as well as the research of tissue engineering technology, biological materials in this field. Objective:To analyze the research status and hotspots of mesenchymal stem cells (MSCs) for treatment of spinal cord injury in the past five years. Methods:The related literatures from 2014 to 2018 in Science Citation Index-Expanded (SCI-E) of Web of Science (WOS) were included. CiteSpace software was used to analyze the cooperation relationship of authors, countries and research institutions. The keywords were taken as nodes for co-occurrence analysis, cluster analysis, dynamic frontier evolution and burst analysis. The co-citation of journals and literatures were taken as nodes for analysis, meanwhile, the visual maps were drawn and the results were analyzed.

Treatment of postprandial discomfort syndrome in the elderly: a multi-centered prospective randomized controlled clinical study / 中华内科杂志

Objective:To evaluate the efficacy and safety of Oryz-Aspergillus enzyme and pancreatin tablets (Combizym ?) in the treatment of postprandial distress syndrome (PDS) in the elderly, compared with gastrointestinal motility drugs. Methods:A prospective randomized controlled trial was designed and registered in the China Clinical Trials Registry (ChiCTR-IPR-16008185). The elderly patients with PDS were randomly divided into three groups, including Mosapride group with Mosapride citrate tablets 5 mg 3 times per day for 2 weeks; Combizym ? group with Combizym tablets 244 mg 3 times per day for 2 weeks; combined treatment group with both drugs and same doses for 2 weeks. The modified Nepean dyspepsia index (NDSI) score, discomfort intensity score and PDS score were calculated on patients before treatment, at the end of first and second week of treatment, as well as 4 weeks after treatment finished, respectively. Adverse effects were evaluated. Results:A total of 323 patients from 16 tertiary hospitals in China were enrolled in this study. Among them, 105 patients were in Mosapride group, 109 in Combizym ? group and 109 in combined treatment group. There were 148 males (45.8%) and 175 females (54.2%) with median age 71.4±9.0 years (60-100 years). Baseline characteristics of three groups were comparable. After treatment, the NDSI scores in three groups all decreased significantly ( P<0.001), while they were similar between groups ( P>0.05). The discomfort intensity score and PDS score in three groups showed a significant reduction after treatment ( P<0.001), especially in the combined treatment group. Compared with Mosapride group, the scores in Combizym ? group decreased significantly after one or two weeks [discomfort intensity score: after one week, 4.0(2.5, 8.0) vs. 6.0(3.0, 10.0); after two weeks, 3.0(0.0, 5.0) vs. 4.0(2.0, 6.0); all P<0.05. PDS score: after one week, 6.0(3.0, 9.0) vs. 7.0(3.5, 10.5); after two weeks, 3.0(0.0, 5.0) vs. 4.0(2.0, 7.0); all P<0.05]. The efficacy rate in all patients after first week of treatment was over 15.0%. The efficacy rates after two weeks were 55.2%, 68.8% and 73.4% in Mosapride group, Combizym ? group and combined treatment group, respectively. After two week treatment, the efficacy rates in Combizym ? group ( P=0.041) and combined group ( P=0.006) were higher than that of Mosapride group. The recurrence rate of Mosapride group was 9.5%, which was significantly higher than that of Combizym ? group (1.8%, P<0.05) and combined treatment group (1.8%, P<0.05). There were no serious adverse effects in the three groups. Conclusions:The efficacy of Oryz-Aspergillus enzyme and pancreatin tablets is comparable with that of Mosapride in elderly PDS patients, with fewer adverse effects and low recurrence rate. Combination regimen indicates better efficacy than that of Oryz-Aspergillus enzyme and pancreatin tablets or Mosapride alone.

Treatment of postprandial discomfort syndrome in the elderly: a multi-centered prospective randomized controlled clinical study / 中华内科杂志

Objective@#To evaluate the efficacy and safety of Oryz-Aspergillus enzyme and pancreatin tablets (Combizym®) in the treatment of postprandial distress syndrome (PDS) in the elderly, compared with gastrointestinal motility drugs.@*Methods@#A prospective randomized controlled trial was designed and registered in the China Clinical Trials Registry (ChiCTR-IPR-16008185). The elderly patients with PDS were randomly divided into three groups, including Mosapride group with Mosapride citrate tablets 5 mg 3 times per day for 2 weeks; Combizym® group with Combizym tablets 244 mg 3 times per day for 2 weeks; combined treatment group with both drugs and same doses for 2 weeks. The modified Nepean dyspepsia index (NDSI) score, discomfort intensity score and PDS score were calculated on patients before treatment, at the end of first and second week of treatment, as well as 4 weeks after treatment finished, respectively. Adverse effects were evaluated.@*Results@#A total of 323 patients from 16 tertiary hospitals in China were enrolled in this study. Among them, 105 patients were in Mosapride group, 109 in Combizym® group and 109 in combined treatment group. There were 148 males (45.8%) and 175 females (54.2%) with median age 71.4±9.0 years (60-100 years). Baseline characteristics of three groups were comparable. After treatment, the NDSI scores in three groups all decreased significantly (P<0.001), while they were similar between groups (P>0.05). The discomfort intensity score and PDS score in three groups showed a significant reduction after treatment (P<0.001), especially in the combined treatment group. Compared with Mosapride group, the scores in Combizym® group decreased significantly after one or two weeks [discomfort intensity score: after one week, 4.0(2.5, 8.0) vs. 6.0(3.0, 10.0); after two weeks, 3.0(0.0, 5.0) vs. 4.0(2.0, 6.0); all P<0.05. PDS score: after one week, 6.0(3.0, 9.0) vs. 7.0(3.5, 10.5); after two weeks, 3.0(0.0, 5.0) vs. 4.0(2.0, 7.0); all P<0.05]. The efficacy rate in all patients after first week of treatment was over 15.0%. The efficacy rates after two weeks were 55.2%, 68.8% and 73.4% in Mosapride group, Combizym® group and combined treatment group, respectively. After two week treatment, the efficacy rates in Combizym® group (P=0.041) and combined group (P=0.006) were higher than that of Mosapride group. The recurrence rate of Mosapride group was 9.5%, which was significantly higher than that of Combizym® group (1.8%, P<0.05) and combined treatment group (1.8%, P<0.05). There were no serious adverse effects in the three groups.@*Conclusions@#The efficacy of Oryz-Aspergillus enzyme and pancreatin tablets is comparable with that of Mosapride in elderly PDS patients, with fewer adverse effects and low recurrence rate. Combination regimen indicates better efficacy than that of Oryz-Aspergillus enzyme and pancreatin tablets or Mosapride alone.

Bibliometric Analysis of Research Hotspots Related to Marine Oil Spill Accidents in the Environmental Field Based on Web of Science / 法医学杂志

Objective To conduct bibliometric analysis of the relevant literature in the environmental field published from 1982 to 2018 collected by the Web of Science citation database and further explore the frontier research dynamics and hotspots in the environmental field. Methods The word "oil spill*" was used as the subject term for retrieval. A knowledge map of hotspots in oil spill research was built through software VOSviewer and the clustering relations between them were explored. The frequency and relevance of the keywords in the corresponding literature were obtained by the matrix of keywords built through the Thomson Data Analyzer （TDA） software. Results The four main research hotspots of marine oil spill pollution were oil spill numerical simulation and model prediction, oil spill exposure toxicity and risk assessment, oil spill component and source analysis and oil spill pollution characteristics and treatment. Conclusion The study analyzes the main content of the four research hotspots and the current research progress and provides scientific basis for further understanding of the mechanism of marine oil spill occurrence, migration and transformation, implementation of oil spill treatment and repair as well as more accurate assessment of eco-environment damage.

Sexual function, urinary function and quality of life in patients after total proctocolectomy and ileal pouch anal anastomosis / 中华普通外科杂志

Objective@#To investigate the sexual function, urinary function and quality of life in patients of ulcerative colitis(UC) and familial adenomatous polyposis(FAP) after total proctocolectomy and ileal pouch anal anastomosis (IPAA).@*Methods@#The clinical data of patients with UC and FAP undergoing IPAA at Zhongnan Hospital of Wuhan University from Jan 2006 to Sep 2018 were reviewed , postoperative sexual function, urinary function, and long-term quality of life were assessed.@*Results@#There were 45 patients with median age of 35 years , median follow-up time of 31 months. 18 were UC, 27 were FAP, 5 did 1-stage surgery, 37 did 2-stage surgery, 3 for 3-stage surgery, 13 underwent open surgery, and 32 underwent laparoscopic surgery. 7 patients suffered sexual dysfunction after IPAA, and there was no statistical difference between male and female (P=0.992), UC and FAP (P=0.153), 1-stage , 2-stage , and 3-stage surgery (P=0.363) , with statistically significant difference between the open group and the laparoscopic group (P=0.025). 6 patients complicated with urinary dysfunction after IPAA , and there was no statistical difference between male and female (P=0.562), UC and FAP (P=0.325), 1-stage, 2-stage, and 3-stage surgery (P=0.286) , with statistically significant difference between the open group and the laparoscopic group (P=0.007). The Cleveland Global Quality of Life (CGQL) score after IPAA was 0.696±0.085. There were no statistical difference on CGQL scores in males and females (P=0.635), UC and FAP (P=0.664), 1-stage, 2-stage, and 3-stage (P>0.05), open group and laparoscopic group (P=0.205), postoperative long-term QOL was significantly associated only with age at the time of surgery (P=0.001).@*Conclusions@#Compared with open surgery, laparoscopic TPC-IPAA patients had better postoperative sexual function and urination function.

Sexual function, urinary function and quality of life in patients after total proctocolectomy and ileal pouch anal anastomosis / 中华普通外科杂志

Objective To investigate the sexual function,urinary function and quality of life in patients of ulcerative cohtis(UC) and familial adenomatous polyposis(FAP) after total proctocolectomy and ileal pouch anal anastomosis (IPAA).Methods The clinical data of patients with UC and FAP undergoing IPAA at Zhongnan Hospital of Wuhan University from Jan 2006 to Sep 2018 were reviewed,postoperative sexual function,urinary function,and long-term quality of life were assessed.Results There were 45 patients with median age of 35 years,median follow-up time of 31 months.18 were UC,27 were FAP,5 did 1-stage surgery,37 did 2-stage surgery,3 for 3-stage surgery,13 underwent open surgery,and 32 underwent laparoscopic surgery.7 patients suffered sexual dysfunction after IPAA,and there was no statistical difference between male and female (P =0.992),UC and FAP (P =0.153),1-stage,2-stage,and 3-stage surgery (P =0.363),with statistically significant difference between the open group and the laparoscopic group (P =0.025).6 patients complicated with urinary dysfunction after IPAA,and there was no statistical difference between male and female (P =0.562),UC and FAP (P =0.325),1-stage,2-stage,and 3-stage surgery (P =0.286),with statistically significant difference between the open group and the laparoscopic group (P =0.007).The Cleveland Global Quality of Life (CGQL) score after IPAA was 0.696 ± 0.085.There were no statistical difference on CGQL scores in males and females (P =0.635),UC and FAP (P =0.664),1-stage,2-stage,and 3-stage (P ＞ 0.05),open group and laparoscopic group (P =0.205),postoperative long-term QOL was significantly associated only with age at the time of surgery (P =0.001).Conclusions Compared with open surgery,laparoscopic TPC-IPAA patiems had better postoperative sexual function and urination function.

Clinical Efficacy of Modified Guizhi Gancao Longgu Muli Tang in Treating Menopausal Insomnia and Its Effect on Sleep Quality and Neurotransmitter / 中国实验方剂学杂志

Objective: To explore the clinical efficiency of modified Guizhi Gancao Longgu Muli Tang in treating menopausal insomnia.Method: A total of 134 female cases with menopausal insomnia in our hospital from January 2016 to June 2018 were selected as research objectives and randomly divided into observation group (67 cases) and control group (67 cases).Oral zopiclone was provided to control group,and modified Guizhi Gancao Longgu Muli Tang combined with oral zopiclone was provided to observation group.All cases were treated for 4 weeks.The two groups'clinical effects,sleep quality[pittsburgh sleep quality index (PSQI) score],neurotransmitter[glutamate (Glu),γ-aminobutyric acid (GABA),5-hydroxytryptamine (5-HT),dopamine (DA)]levels before and after treatment,as well as adverse reactions were compared.Result: Observation group's overall effective rate was 92.5%(62/67),which was significantly higher than 80.6%(54/67) of control group (PPPPPPConclusion: Modified Guizhi Gancao Longgu Muli Tang can improve sleep quality,alleviate symptoms of insomnia,and correct neurotransmitter metabolic disorder for patients with menopausal insomnia,with an exact curative effect and a higher tolerance of patients.

Relation of miR-140 Expression Level with Therapeutic Effect of Decitabine and Its Mechanism / 中国实验血液学杂志

OBJECTIVE@#To investigate the relationship of miR-140 expression level with the therapeutic effect of decitabine, and to explore whether the molecular mechanism is dependent on the regulation of TLR4 expression.@*METHODS@#Forty-seven patients with acute myeloid leukaemia (AML) were enrolled in our study and divided into decitabine combination treatment group (22 cases) and traditional treatment group (25 cases). The clinical efficacy was compared between these two groups. Real-time PCR was used to determine the plasma level of miR-140 in AML patients. Decitabine, miR-140 mimic and miR140 inhibitor were used to treat AML HL-60 cells in vitro, the real-time PCR and Western blot were used to detect the expressions of miR-140, TLR4 and NF-κB at both mRNA and protein levels.@*RESULTS@#Compared with traditional treatment group, decitabine combination treatment group showed more significant clinical efficacy. Plasma miR-140 level in both 2 treatment groups both decreased, but the plasma miR-140 level was higher in decitabine combination treatment group as compared with traditional treatment group. Experiment in vitro showed that 0.3 μmol/L decitabine significantly inhibited the HL-60 cell proliferation accompanied by up-regulation of miR-140 expression and down-regulation of expression of TLR4 and NF-κB. These effects induced by decitabine were partly reversed by pretreating the cells with 200 nmol/L miR-140 inhibitor.@*CONCLUSION@#Decitabine-induced up-regulation of miR-140 expression may be related with its chemotherapeutic effects, and miR-140/TLR4/NF-κB pathway may partly mediate the pharmacologic action of decitabine.

Mean platelet volume might be an effective indicator of arterial erectile dysfunction / 亚洲男科学杂志(英文版)

The aim of our study was to investigate the role of platelet parameters including mean platelet volume (MPV) and platelet count (PC) in the pathogenesis of penile arteriogenic erectile dysfunction (ED) and to evaluate the association between the platelet parameters and arteriogenic ED. There were 244 patients with ED (based on the International Index of Erectile Function [IIEF]-5 ≤21) and 60 healthy controls (IIEF-5 >21) enrolled. All participants were asked to undergo a laboratory examination, and penile vascular function was evaluated using penile color Doppler ultrasonography (pDUS). Among these ED patients, 24 patients with no abnormality on nocturnal penile tumescence (NPT) and 84 with normal vasculature or mixed vascular abnormalities were excluded. The other patients were classified into three groups as follows: control (n = 60), arteriogenic ED (n = 99), and venous leakage (n = 37) groups. MPV and PC were significantly higher in the arteriogenic ED group compared with the venous and control groups (P < 0.05). Receiver operating characteristic curve analysis revealed that the area under the curve for MPV to predict arteriogenic ED was 0.707. MPV ≥9.65 fl was recognized as a cut-off value for potential arteriogenic ED (sensitivity: 47.5%; specificity: 91.7%). A significant inverse correlation was detected between MPV and 10-min peak systolic velocity (PSV) (r = -0.34; P < 0.001) in the arteriogenic ED group. These findings suggest that the MPV might be a powerful indicator to predict and diagnose arteriogenic ED, and MPV may be a marker for ED when using pDUS.

Effects of different doses of microwave therapy on adjacent tissue of titanium alloy implants after fracture surgery / 中国组织工程研究

BACKGROUND: Microwave treatment is a common physical therapy method that can increase the temperature and blood circulation of deep tissues, and is used for improving fracture repair. However, microwave treatment cannot be used if there is surgically implanted metal plate or screw. OBJECTIVE: To observe the dame of microwave treatment to the tissues surrounding the titanium alloy implants. METHODS: Forty-four New Zealand white rabbits were randomized into experimental and control groups. The model of the fracture at the middle of the femur was established in all rabbits, and the rabbits in the experimental group were implanted with titanium alloy internal fixation systems. A 30-day microwave treatment (2 450 MHz, 20 W or 40 W, 20 minutes daily) was applied to the fracture site in all rabbits at 3 days after operation. RESULTS AND CONCLUSION: After 20 W of wave microwave treatment, the temperature of tissues around the implants showed no significant increase or severe heat injury. While, 40 W of wave microwave treatment significantly increased the temperature of tissues around the implants and the tissue was damaged severely. Our results indicate that, the low-dosage microwave treatment may be a promising method in the rehabilitation therapy of fractures with titanium alloy internal fixation.

Comparison of surgical and mechanical ventilation for flail chest / 局解手术学杂志

Objective To compare the efficacy of surgical treatment(ST) and mechanical ventilation treatment(MVT) for flail chest.Methods From March 2013 to May 2017,81 patients with flail chest who underwent ST(28 cases) and MVT(53 cases) were enrolled in ICU.The relevant indicators of efficacy were compared including mechanical ventilation (MV) time,bed rest time,oxygen administration time,catheterization time,antibiotic use time,drug analgesia,drug analgesia patients,proportion of stop/postoperative sputum alone,ICU treatment time,hospital stay,mortality,readmission within two months and long-term pulmonary function after discharge.Results The MV time,bed time,oxygen time,antibiotic use time,ICU treatment time and hospitalization time of MVT were longer than those of ST group,the differences were significant(P ＜ 0.05).MVT had more analgesic times,more analgesic cases,smaller proportion of offline/postoperative sputum along and less hospitalization fees compared with ST group,the differences were significant(P ＜0.05).There was no significant difference in the main indexes of pulmonary function between two groups in 3 months after discharge.Conclusion ST and MVT respectively has advantages and disadvantages for flail chest.There is no significant difference in long-term pulmonary function of ST and MVT.While MVT has less trauma and lower cost.The appropriate treatment could be selected according to the clinical situation.

Clinical Significance of Corrected Serum Calcium in 320 Patients with Multiple Myeloma / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To analyze the clinical significance of corrected serum calcium(CSCa) in patients with multiple myeloma.</p><p><b>METHODS</b>The serum calcium levels of 320 patients with initial multiple myeloma were measured and corrected by serum albumin and its levels measured simultaneously. The differences of serum calcium levels were analyzed before and after the correction by serum albumin.</p><p><b>RESULTS</b>There was a significant difference between serum calcium and CSCa in MM patients (2.34±0.15 vs 2.6±0.17 mmol/L). The constituent ratio of patients with hypercalcemia was from 11.3% to 23.1% after correction, the MM patients with hypocalcemia was decreased from 42.8% to 7.8% after correction, and the patients with normal calcium level were increased. There was a significant difference between serum calcium level and CSCa in I, II, III stages of MM patients respectively(P<0.05). In the 320 patients, the incidence of anemia was 80%, renal failure was 20.9%, and myeloma bone disease was 68.8%. Calcium concentration in both anemia and renal insufficiency was higher than the normal group, and the difference was more significant after correction. In 220 cases of MM receiving chemotherapy, the median progression-free survival (PFS) was 15 months, and overall survival(OS) time was 20 months. The PFS and OS time of the patients with hypercalcemia were shortened, and the difference was very significant after correction(P<0.01).</p><p><b>CONCLUSION</b>Corrected serum calcium can more sensitively to reflect the diseases serious extent, thus indicating prognosis has better effect.</p>