bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic mutation analysis of hereditary spastic paraplegia
Authors: Cui Fang , Sun LiuQing , Qiao Jie , Li JianYong , Li Mao , Chen SiYu , Sun Bo , Huang XuSheng 
Published: June 2020

Abstract
Hereditary spastic paraplegias are heterogeneous disorders with diversified clinical manifestations, and genetic testing is important for the diagnosis and typing of hereditary spastic paraplegias.
Gene panel sequencing containing 55 hereditary spastic paraplegias-related genes was performed to screen the pathogenic genes for hereditary spastic paraplegias. Sanger sequencing was adopted to validate if the family member carried the same pathogenic gene as the proband.
Fifteen out of 53 patients carried mutation(s) in the screened hereditary spastic paraplegias-related genes. Among the 23 identified mutations, only one mutation had been previously reported as a pathogenic mutation. In the pedigree of case 6, the proband, his mother and uncle all carried the same novel deletion mutation (c.1459delA) at SPAST gene. Based on the pedigree, the disease was inherited in an AD pattern. In the pedigree of case 53, the family disease may be in an X-linked recessive inheritance pattern. The proband (case 53) carried two novel mutations in ALT1 gene and L1CAM gene (c.2511C>A), respectively. The L1CAM gene is the causative gene for the SPG1 X-linked recessive—hereditary spastic paraplegias.
Our data confirm the genetic heterogeneity of hereditary spastic paraplegias, and SPG4/SPAST were the most frequent forms. The pathogenicity of the novel mutations is worth to be further investigated.
Effectiveness comparisons of acupuncture treatments for Bell palsy in adults
Authors: Li Bing , Sun Xiqing , Guo Jun , Shu Wenjie , Cheng Yiran , Li Jie 
Published: June 2020

Abstract

Background:
Bell palsy (BP) is a simple peripheral facial paralysis. A variety of acupuncture treatments have been reported effective for the recovery of BP. However, the relative effectiveness of these acupuncture treatments is still unclear. Therefore, we plan to summarize the evidence and determine the most effective acupuncture treatment for BP.

Methods:
We will search the following database, including The Cochrane Library, PubMed, Web of Science, EMBASE, China BioMedical Literature (CBM),China National Knowledge Infrastructure (CNKI), Chinese Scientific Journals Database (VIP), and Wanfang database, from their inceptions to April 30, 2020, in order to collect randomized controlled trials (RCTs) on acupuncture in the treatment of BP. We will use Stata16.0 and WinBUGS software for statistical analysis and draw surface under the cumulative ranking curve (SUCRA) graph for each outcome indicator to predict the order of curative effect of treatment measures.

Results:
This study will compare and rank the effectiveness of different acupuncture methods in the treatment of BP, and the outcome indicators will include House-Brackmann Grading Scale, sequelae, Facial Disability Index score, Sunnybrook facial grading system, Portmann score, and adverse events.

Conclusion:
Our study will provide supports for clinical practice.
INPLASY registration number: INPLASY202040019.
Efficacy of bimatoprost for the treatment of primary open-angle glaucoma
Authors: Liu Hong-wei , Lu Yu-tong , Ren Yong-bo , Meng Yan 
Published: June 2020

Abstract

Background:
Bimatoprost has been reported to treat primary open-angle glaucoma (POAG) effectively. However, up-to-date, no systematic review has specifically addressed the efficacy and safety of bimatoprost for the treatment of POAG. Therefore, this study will propose to appraise the efficacy and safety of bimatoprost for the treatment of POAG.

Methods:
We will perform a systematic search in MEDLINE, EMBASE, CINAHI, Cumulative Index to Nursing and Allied Health Literature, Allied and Complementary Medicine Database, Web of Science, Cochrane Library, Chinese Biomedical Literature Database, and China National Knowledge Infrastructure from inception up to the March 1, 2020. We will include randomized controlled trials (RCTs) for evaluating the efficacy and safety of bimatoprost for the treatment of POAG. Primary outcome is the mean intraocular pressure (IOP) reduction from baseline to the endpoint, and change in best corrected visual acuity. Secondary outcomes are contrast sensitivity, rate of progression of glaucoma, quality of life, and incidence of adverse events. Study quality will be examined by Cochrane Collaboration tool, and strength of evidence will be evaluated by Grading of Recommendations Assessment Development and Evaluation tool.

Results:
This proposed study will outline the current RCTs to assess the efficacy and safety of bimatoprost for the treatment of POAG.

Conclusion:
The findings of this study will confirm whether bimatoprost is beneficial to patients with POAG.

Systematic review registration:
INPLASY202040118.
The effectiveness and safety of acupuncture for patients with myopia
Authors: Yu Zengfang , Wang Xinxin , Zhao Xiaoshuang , Li Dan , Duan Junguo 
Published: June 2020

Abstract

Background:
Myopia is a common visual disorder which has become a public health problem worldwide. Myopia and high myopia are substantial risk factors for severe visual impairment and other serious eye diseases. Acupuncture used to prevent and control myopia is a common practice in China, but it is controversial in other countries. This study aims to evaluate the efficacy and safety of acupuncture in delaying the progression of myopia in children and adolescents through systematic evaluation.

Methods and analysis:
The following electronic databases will be searched from inception to November 2019 regardless of publication status and language: Medline, EMBASE, Web of Science, the Cochrane Library, PubMed, China National Knowledge Infrastructure (CNKI), China Biology Medicine (CBM), Chinese Scientific Journal Database (VIP), Wanfang Database, Chinese Biomedical Literature Database (CBLD), Chinese Science and Technology Periodical Database (CSTPD). RCT registration websites, including http://www.ClinicalTrials.gov and http://www.chictr.org.cn, will also be searched. Review Manager V.5.3 will be used to analysis the statistic. Two reviewers (ZY and XW) will independently select studies, extract and code the data, assess risk of bias of the included studies, evaluate the quality of evidence for outcomes.

Results:
This study will provide a rational synthesis of current evidences for acupuncture to delay the progression for myopia in children and adolescents.

Conclusion:
The conclusion of this study will provide evidence for evaluating the efficacy and safety of acupuncture to delay the progression for myopia in children and adolescents.
Efficacy of surgery for the treatment of astrocytoma
Authors: Wang Guo-wei , Li Bao-ming 
Published: June 2020

Abstract

Background:
This study will assess the efficacy of surgery for the treatment of patients with astrocytoma.

Methods:
We will undertake searches for randomized controlled trials from the following databases: MEDLINE, EMBASE, Cochrane Library, CINAHL, PsycINFO, and China National Knowledge Infrastructure. We will search all these databases from their inception to the March 1, 2020. No language limitation and publication status will be imposed in this study. Two authors will independently carry out study selection, data extraction, and study quality assessment. We will invite another author to solve any divergences between 2 authors. We will use RevMan 5.3 software to conduct statistical analysis.

Results:
This study will present synthesis of most recent evidence of surgery for the treatment of patients with astrocytoma.

Conclusion:
The findings of this study will provide helpful reference for the efficacy and complications of surgery for the treatment of patients with astrocytoma to the clinicians and future researchers.

Study registration:
INPLASY202040194.
Non-pharmaceutical therapy for post-stroke shoulder-hand syndrome
Authors: Gao Qiang , Nie Huaili , Zhu Chunyan , Kuang Naifeng , Wang Xiaoyu , Chen Yiqian , Zhang Xiao , Zheng Dali , Xia Qing , Yin Tao , Pan Limin , Xie Liangzhen 
Published: June 2020

Abstract

Background:
Shoulder-hand syndrome (SHS) is a common complication in post-stroke patients. SHS has a large impact on patients and their families, communities, healthcare systems and businesses throughout the world. Non-pharmaceutical therapy for post-stroke SHS is the most common treatment in clinical practice, but their effectiveness is still unclear. The aim of this study is to assess the effect and safety of non-pharmaceutical therapeutic strategies for post-stroke SHS.

Method:
We will search 3 in English and 4 in Chinese languages electronic databases regardless of publication date or language. We will include randomized controlled trials (RCTs) assessing the effect of any non-pharmaceutical therapy for post-stroke SHS. Primary outcomes will be any effective instrument for post-stroke SHS. Two authors will independently assess the risk of bias by using Cochrane tool of risk of bias. We will perform network meta-analysis in random effects model to estimate the indirect and mixed effects of different therapeutic strategies by R-3.5.1 software. We will assess the confidence in cumulative evidence by Grading of Recommendations Assessment, Development and Evaluation.

Results:
This study will be to assess the effect and safety of non-pharmaceutical therapy for post-stroke SHS.

Conclusions:
This study will assess the effect of different non-pharmaceutical therapeutic strategies for post-stroke SHS and provide reliable evidence for the choice of treatments.

Systematic review registration: PROSPERO (CRD42019139993).
Effects and safety of Buyang-Huanwu Decoction for the treatment of patients with acute ischemic stroke
Authors: Jiang Chao , Xu Yong-cheng , Zhang Wen , Pan Wen , Chao Xu 
Published: June 2020

Abstract

Background:
We designed this study to assess the effects and safety of Buyang-Huanwu Decoction (BYHWD) for the treatment of patients with acute ischemic stroke (AIS).

Methods:
Electronic databases of Cochrane Library, EMBASE, MEDLINE, CINAHL, PsycINFO, Scopus, Allied and Complementary Medicine Database, VIP Database, and China National Knowledge Infrastructure will be comprehensively and systematically searched from initial time of each electronic database to the present without limitations of language and publication status. Randomized controlled trials on BYHWD alone against any other interventions for the treatment of AIS will be included. All process of study selection, data collection, and methodological quality assessment will be independently undertaken by 2 investigators. Cochrane risk of bias tool and RevMan 5.3 software will be utilized for the performance of methodological quality assessment and statistical analysis, respectively.

Results:
This study will summarize most recent high quality evidence on investigating the effects and safety of BYHWD alone against any other interventions for the treatment of patients with AIS.

Conclusions:
The findings of this study will provide helpful evidence for the clinical practice for patients with AIS using BYHWD, as well as the relevant future researches.
Study registration number: INPLASY202040169.
Stromal cell-derived factor-1 as a serologic biomarker for the diagnosis of colon ischemia with chronic cardiovascular disease
Authors: Kim Ka Young , Lee Hae Kyung , Kim Hyunjung , Kim Yeongsic , Kim Yonggoo , Choi Hyun Ho , Kim Sang Woo , Kim Hyung Keun , Chae Hiun Suk 
Published: June 2020

Abstract
Colon ischemia (CI) is the most common ischemic disorder of the gastrointestinal tract. Although some markers of CI, such as procalcitonin and alkaline phosphatase, have been reported, few specific serum markers have been identified. We investigated whether serum stromal cell-derived factor-1 (SDF-1) is a specific marker of CI and clarified the relationship between serum SDF-1 level and CI according to a history of combined chronic cardiovascular disease (CVD).
We measured SDF-1 level and other serological markers in 84 patients (control, n = 20; CI without chronic CVD, n = 21; chronic CVD without CI, n = 20; CI with chronic CVD, n = 23).
Patients with CI were older than those without CI. There were more women in the CI groups than those without CI. At admission, SDF-1 level was significantly higher in patients having CI with chronic CVD (P < .001) than in other groups. SDF-1 level was significantly higher at admission than at discharge in patients having CI with chronic CVD (P < .001) but not in patients having CI without chronic CVD. SDF-1 level did not differ according to symptoms, involved sites, or duration of hospitalization. At a cutoff value of 0.5 pg/mL for the SDF-1 level in patients having CI with chronic CVD, the sensitivity and specificity for SDF-1 were 91.3% and 95%, respectively. The area-under-the-curve (AUC) value was 0.95. In the logistic regression analysis, an elevation of the SDF-1 level to >0.5 pg/mL was a significant indicator of CI with chronic CVD [odds ratio (OR), 114.914; 95% confidence interval, 10.51 to >999.999; P < .001].
SDF-1 could be a useful early biomarker for the diagnosis of CI in patients with chronic CVD.
Treatment of limb synovial sarcoma with metastasis at presentation
Authors: Guo Pan , Zhao Renbo , Zhou Yuanxi , Shen Yuxin 
Published: June 2020

Abstract
Limb synovial sarcoma (LSS) patients with metastasis at presentation usually have a very poor prognosis. Little is known about survival prediction and risk factors in these patients owing to the condition's rarity. Thus, this study examined the survival and prognostic variables of metastatic LSS.
Clinical data for LSS patients with metastasis at presentation from 1975 to 2016 were obtained from the surveillance, epidemiology, and end results database. The Kaplan–Meier method was used to determine the survival curves. Univariate and multivariate Cox regression analysis were conducted to identify the prognostic predictors.
The study enrolled 217 patients. Male predominance was observed in the metastatic LSS group. The median age at diagnosis of this population was 40 years. The subtypes were “not otherwise specified” (49.8%), spindle cell (32.7%), biphasic (17.1%), and epithelioid cell (0.5%). The 3-year overall and cancer-specific survival rates of the entire group were 27.2% and 28.3%, respectively. Tumor size <10 cm, surgery, radiotherapy, and chemotherapy were independent predictors of improved overall and cancer-specific survival in the multivariate analyses.
Comprehensive treatment for LSS patients with metastasis at diagnosis is necessary and effective and can prolong survival.
Efficacy of levocetirizine for the treatment of children with allergic rhinitis
Authors: Zheng Peng-ju , Wang Jin-sheng , Liu Gui-fang , Zhang Shu-hua , Zhang Yi-ying 
Published: June 2020

Abstract

Background:
Although previous studies have reported that levocetirizine is utilized for the treatment of children with allergic rhinitis (AR), its conclusions remain inconsistent. This study aims to evaluate the efficacy and harms of levocetirizine for children with AR.

Methods:
Electronic database sources will be undertaken from the beginning to the present: MEDLINE, EMBASE, The Cochrane Library, CINAHL, ACMD, PsycINFO, Chinese Biomedical Literature Database, and China National Knowledge Infrastructure. We will not apply any restrictions to language and publication status. We will only consider randomized controlled trials of levocetirizine for children with AR. Two authors will independently scan literature, select studies, and collect data. Study quality for each included trial will be assessed using Cochrane risk of bias tool, and statistical analysis will be conducted using RevMan 5.3 software.

Results:
This study will summarize the present evidence to systematically assess the efficacy and harms of levocetirizine for children with AR.

Conclusion:
The findings of this study intent to adequately inform stakeholders or clinicians, as well as to help develop treatment guidelines.

Study registration number:
INPLASY202040111.
Analysis of TATA-box binding protein associated factor 4b gene mutations in a Chinese population with nonobstructive azoospermia
Authors: Xi Qi , Zhang Hao , Zhang Xinyue , Jiang Yuting , Wang Ruixue , Liu Ruizhi , Zhang Hongguo 
Published: June 2020

Abstract
Nonobstructive azoospermia (NOA) is a severe form of male infertility. The molecular basis of NOA is still poorly understood. The aim of this study was to explore the associations between single nucleotide polymorphisms (SNPs) of the TATA-box binding protein associated factor 4b (TAF4B) gene and NOA. A total of 100 Han Chinese patients with NOA and 100 healthy men as controls were recruited. Targeted gene capture sequencing was performed. A total of 11 TAF4B SNPs were screened in the NOA and control subjects. Six synonymous and 4 nonsynonymous variants were detected. The c.11G>T (p.G4V) mutation was detected only in NOA patients. Polymorphism Phenotyping v2 and Sorting Intolerant From Tolerant analysis indicated that the p.G4V mutation influenced the protein structure of TAF4B. Haplotype analysis showed that the candidate SNPs did not independently associate with NOA and were found at extremely low frequencies in the subject population. Mutation Taster analysis indicated that the c.11G>T/p.G4V mutation was damaging. WebLogo analysis showed that the residue at amino acid 4 was relatively conserved. The p.Gly4Val substitution may affect the structure of the TAF4B protein. The c.11G>T mutation of the TAF4B gene may be associated with NOA in a Chinese population. Bioinformatics analysis indicated this variation may play an important role in the process of spermatogenesis.
Japanese parturient body mass index and the role in initial nerve block height of women undergoing cesarean delivery with spinal anesthesia
Authors: Miyoshi Futaba , Fukushima Risa , Yokokawa Sumire , Sakuma Shiori , Nomura Minoru , Kinoshita Hiroyuki 
Published: June 2020

Abstract
The present retrospective cohort study was designed to determine body mass index (BMI) at the delivery in women undergoing cesarean section in a Japanese urban area, and whether the nerve block height after spinal anesthesia upon the cesarean delivery relates to the lower maternal BMI, less gestational age, or underweight fetus at birth in the population.
A total of 401 pregnant women undergoing cesarean delivery with spinal anesthesia were evaluated retrospectively. We examined background differences, including BMI at the delivery, gestational age, and fetal birth weight between the cases with and without the adequate initial nerve block height less than the sixth thoracic vertebral level (Th6) after the spinal dose administration.
The data demonstrated advanced maternal age pregnancy (median 35.5 years) and normal BMI (median 24.7) at the delivery in the population. The patients with the inadequate initial nerve block height immediately after the spinal dose administration documented significantly lower block height compared with those with adequate block height (Th8 [n = 55] vs Th4 [n = 346], P < 0.001). There was a risk of the low initial block height caused by either preoperative BMI <23, gestational age <37 weeks, or fetal birth weight <2500 g in the population.
In a Japanese urban area, parturient median BMI undergoing cesarean delivery is in the normal range. Such lower BMI, in addition to less gestational age or underweight fetus, seems one of the factors causing the low initial block height upon spinal anesthesia.
The impact of exercise on patients with dementia
Authors: Chen Ke-Hau , Chen Hsiu-Hui , Li Lin , Lin Hui-chen , Chen Chien-Liang , Chen Nai-Ching 
Published: June 2020

Abstract
The current absence of a disease-modifying treatment for Alzheimer disease highlights the necessity for the benefits of nonpharmacological approaches. We aimed to investigate the effect of exercise in older patients with Alzheimer dementia.
This is an observational, prospective cohort study in medical center. Eighty older patients with Alzheimer dementia, including 54 with mild dementia and 26 with moderate dementia, were followed up over 2 years. Patients were divided into exercise and no-exercise groups according to their weekly exercise habit. Mini-Mental State Examination (MMSE), clinical dementia rating (CDR), and senior fitness test were checked initially. We defined death and unexpected hospitalization as the outcomes.
Age, sex, education years, and MMSE showed no significant differences between the groups (P > .05) in all patients. All the patients of the exercise group had significantly better left upper body strength, higher aerobic endurance, and left and right balance maintenance time than those of the no-exercise group (P < .05). There were no changes in hospitalization and mortality between the exercise and non-exercise groups during the 2-year follow-ups in all participants. However, in the mild and moderate dementia subgroups, age, sex, education years, and MMSE showed no significant differences between the groups (P > .05). The exercise group had significantly better lower body strength, left upper body strength, aerobic endurance, right upper body flexibility, lower body flexibility, balance maintenance, and agility than the no-exercise group in patients with mild dementia (P < .05). Moreover, the exercise group had significantly lesser unexpected hospitalization than the no-exercise group in the patients with mild dementia (P = .037).
Despite the similarity in the status of dementia, exercise habit was found to be associated with a better senior fitness test score status. Hence, exercise can decrease unexpected hospitalization in patients with mild dementia but not those with total dementia.
Accuracy of FibroScan in analysis of liver fibrosis in patients with concomitant chronic Hepatitis B and nonalcoholic fatty liver disease
Authors: Li Qiang , Huang Chenlu , Xu Wei , Hu Qiankun , Chen Liang 
Published: June 2020

Abstract
Liver steatosis could affect the accuracy of FibroScan in patients with chronic hepatitis B (CHB) and nonalcoholic fatty liver disease (NAFLD). This study aimed to assess the accuracy and cut-off values of FibroScan for diagnosing liver fibrosis and cirrhosis in patients with concomitant CHB and NAFLD.
A total of 116 patients with concomitant CHB and NAFLD who underwent FibroScan test and liver biopsy were retrospectively enrolled. Liver fibrosis was staged according to the METAVIR scoring system. Calculations of the areas under receiver-operating characteristic curves (AUROC) were performed and compared for the staging of liver fibrosis.
The AUROCs for FibroScan, gamma-glutamyl transpeptidase to platelet ratio (GPR), aspartate aminotransferase to platelet ratio index (APRI), fibrosis index based on 4 factors (FIB-4), and NAFLD Fibrosis Score (NFS) were 0.87, 0.73, 0.69, 0.57, and 0.57 for the diagnosis of significant liver fibrosis (METAVIR ≥ F2); 0.89, 0.77, 0.75, 0.68, and 0.60 for severe liver fibrosis (METAVIR ≥ F3); and 0.94, 0.86, 0.80, 0.74, and 0.63 for cirrhosis (F4), respectively. The cutoff values of FibroScan for staging liver fibrosis with sensitivity at least 90% were: 8.0 kPa for significant liver fibrosis, and 10.5 kPa for cirrhosis. The cutoff values of FibroScan for staging liver fibrosis with specificity at least 90% were: 10.8 kPa for significant liver fibrosis, and 17.8 kPa for cirrhosis.
FibroScan provides high value for the diagnosis of liver fibrosis and cirrhosis in patients with concomitant CHB and NAFLD.