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Objective:To visualize the research hot spots and frontiers of non-surgical treatments for idiopathic scoliosis (IS) based on CiteSpace.Methods:The Web of Science Core Database and China National Knowledge Infrastructure from 1990 to 2020 were searched for studies of non-surgical treatments of idiopathic scoliosis. The time, distributions of nations, institutions, academic disciplines and keywords of literature were analyzed. With CiteSpace 5.7.R4 and Excel 2017, the visualized knowledge graphs and the data tables were generated.Results:A total of 822 studies including 548 articles in English and 274 articles in Chinese were retrieved, including 378 articles published during 2015—2020. The top three nations with higher number of published articles were USA (114 studies), Canada (77 studies) and China (68 studies). Studies covered 33 disciplines, including rehabilitation, engineering and orthopedics, and the betweenness centrality of rehabilitation medicine was the highest (0.59). The non-surgical treatment research was focused on adolescents (187 studies) and brace treatment (116 studies). From 1990 to 2014, the non-surgical treatment of IS mainly focused on the brace treatment (70.4%,69/98) in domestic studies. After 2014, comprehensive treatments such as exercise therapy and manual therapy gradually became the research trend in this field (61.3%,92/150). Research hotspots included different forms of brace treatment (betweenness centrality: 0.31), exercise (6 studies), manual therapy (3 studies), guide of medicine (2 studies), acupuncture therapy (2 studies) of non-surgical treatments. Among top 30 research institutions for domestic publication of Chinese literature, there were 22 tertiary hospitals, 1 secondary hospital, 5 schools, 1 comprehensive rehabilitation service organization, and 1 community health service center.Conclusion:The research content of non-surgical treatment for idiopathic scoliosis tends to be diversified, comprehensive treatment of exercise therapy, brace therapy, and manual therapy are currently the main research hotspots.
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OBJECTIVE@#To explore the clinical feature and gene variant for two cases of primary male infertility caused by severe asthenospermia and to analyze the etiology of the disease.@*METHODS@#Genomic DNA of peripheral blood samples of patients and their parents was extracted and gene variant analysis of the patients was conducted by using whole exome sequencing. Suspected pathogenic variant was verified by Sanger sequencing and pathogenic analysis.@*RESULTS@#Whole exome sequencing showed that the DNAH1 gene of patient 1 had two heterozygous variants of c.2016T>G(p.Y672X) and c.6017T>G (p.V2006G). The DNAH1 gene of patient 2 had a homozygous variant of c.2610G>A(p.W870X), which were inherited from his father and mother, respectively. According to American College of Medical Genetics and Genomics standards and guidelines, the c.2016T>G (p.Y672X) and c.2610G>A (p.W870X) varaints of DNAH1 gene were predicted to be pathogenic (PVS1+PM2+PM3+PP3).@*CONCLUSION@#The two patients of multiple morphological abnormalities of the sperm flagella may be caused by DNAH1 gene variant, which has resulted in primary male infertility.
Subject(s)
Humans , Male , Dyneins/genetics , Genomics , Infertility, Male/genetics , Mutation , Sperm Tail/pathology , Exome SequencingABSTRACT
ObjectiveTo evaluate the predictive value of the sperm quality to fertilization outcomes after short-time insemination.MethodsA total of 558 cycles of short-time insemination in the Reproductive Medical Center of Henan Provincial People's Hospital during January 2009 to June 2010 excluding patients aged ＞ 38 years and M Ⅱ oocyte number ＜ 3 were analyzed retrospectively.According to whether undergo rescue intracytoplasmic sperm injection( Re-ICSI),all cycles were divided into in vitro fertilization (IVF)group (472 cycles) and rescue intracytoplasmic sperm injection (Re-ICSI) group (86 cycles).Both IVFgroup and Re-ICSI group were subdivided into primary infertility and secondary infertility according to previous history of pregnancy.269 primary infertility cycles and 203 secondary infertility cycles were characterized in IVF group; and 64 primary infertility cycles and 22 secondary infertility cycles were characterized in Re-ICSI group.x2 test was applied for comparison of embryo plant rate,clinical pregnancy rate,early miscarriage rate between IVF and Re-ICSI groups,while Fisher test was used for comparison of live birth rate.and Mann-Whitney U test was utilized for comparison of duration of infertility,forward moving sperm counts,abnormal sperm rate,sperm acrosin activity between IVF and Re-ICSI groups.ResultsThe embryo plant rate,clinical pregnancy rate,early miscarriage rate,live birth rate of IVF group were:29.4％,44.9％,13.4％,37.0％ respectively; the above indicators in Re-ICSI group were:25.7％,34.6％,10.7％,29.6％ respectively,the differences of the indicators between the two groups had no statisticalsigmficance (x2 =0.869,2.963,0.010,P =0.351,0.085,0.922,0.098).Median of duration of infertility,forward moving sperm counts,abnormal sperm rate,sperm acrosin activity of primary infertility cycles in IVF group were:4.00(3.00 -6.00) years,58.37(33.64 - 102.27) × 106,81.09％ (79.41％ -88.69％ ),76.30 (48.50 - 92.46 ) μIU/106 sperm respectively ; in Re-ICSI group were:5.00 ( 3.25 -8.00) years,36.33 (20.59 -64.43 ) × 106,85.5％ (81.28％ - 89.02％ ),47.14( 31.61 -90.24) μIU/106 sperm respectively,the differences of them between the two groups had statistical significance (Z =-2.617, -3.505, -3.553, -3.530,P =0.009,0.000,0.000,0.000).Median of duration of infertility,forward moving sperm counts,abnormal sperm rate,sperm acrosin activity of secondary infertility cycles in IVF group were:5.00 (3.00 -7.00) years,63.00 (34.20 - 107.73 ) × 106,81.29％ (79.90 -86.09) ％,78.34 ( 53.87 - 98.00) μIU/106 sperm respectively,in Re-ICSI group were:5.00 ( 3.75 -7.00) years,28.80 ( 18.57 - 48.56 ) × 106,88.79％ ( 84.04 - 95.64 ) ％,54.70 ( 39.73 - 76.77 ) μIU/106 sperm respectively,the differences of them between the two groups showed statistical significance except duration of infertility (Z =- 0.338,- 3.505,- 3.553,- 3.530,P =0.735,0.000,0.000,0.006).ConclusionThe duration of infertility,forward moving sperm counts,abnormal sperm rate,sperm acrosin activity have predictive value of fertilization outcomes after short-time insemination.