Objective To explore the characteristics of WAS gene mutation in Wiskott-Aldrich syndrome (WAS). Methods The clinical data of one infant with WAS were retrospectively analyzed. All exons and flanking sequences in WAS gene were detected by PCR. Results A 5-month-old boy, who has a history of eczema and recurrent infection, was hospitalized for thrombocytopenia. CD8+ and CD4+T cell were increased while CD19+B cell was normal. Bone marrow cytology suggested megakaryocyte mature hindrance. WAS gene detection found C.880 A?>?G (p.Ile294Val) mutation, but no mutations were found in parents. This site was a pathogenic mutation predicted by Polyphen 2 software and SIFT software. Besides, sequence conservation analysis of different species found it was a conservative site and structural prediction analysis revealed it may affect the normal protein structure. This site of mutation has not been reported before. Conclusions Gene detection can make early diagnosis of WAS and C.880 A?>?G (p.Ile294Val) is a new mutation.

Objective Developmental mandibular asymmetry is a common deformity in the human craniofacial skeleton and the treatment is not easy to get satisfactory results. A retrospective study was performed to investigate the clinical results and stability after treatment of developmental mandibular asymmetry by using combination of orthognathic surgery with orthodontics. Methods 58 cases of developmental mandibular asymmetry were treated by preoperative orthodontics-orthognathic surgery -postoperative orthodontics procedure. 82 times of operation, such as mandibular osteotomy, bimaxillary osteotomy, jaw plastic surgery, genioplasty, and distraction osteogenesis were performed according to different type of asymmetry. The facial appearance and occlusion relationship were evaluated with 1～4 years of follow-up. Results Satisfactory results were achieved in 53 cases (91.4 %). Primary satisfactory results were obtained in 4 cases (6.9 %). 1 case (1.7 %) with unsatisfactory result obtained aesthetic effect and ideal occlusion after operation again. Conclusions It is essential to use both of orthodontics and orthognathic surgery in order to ameliorate facial appearance, resume occlusal function, achieve good corrective result and prevent the recurrence of the developmental mandibular asymmetry.

High dose chemotherapy(HDC) with stem cell transplantion(SCT) has been used widely to treat non-Hodgkin's lymphoma(HHL).Its curative effect has been confirmed by many trials.But controversy still exists,such as application of HDC for various NHL subtypes,the optimum opportunity and method for transplantation.HDC has become standard therapy for recuring cases which are sensitive to chemotherapy and was a suitable consolidation therapy after remission for high-risk cases.Allogenic bone marrow marrow transplantation,only used for some special cases,need further study.

OBJECTIVE To observe the effect of vacuum-assisted closure in clinical persistent infection patients.METHODS Thirty two sufferers infected in soft tissue,bones and joints were treated by general methods but without durable concrescence.It lasted averagely 138 days.In our department it treated by vacuum-assisted closure in 23 days.Thereby a comparison of self-control came into being.RESULTS Thirty two cases were cured after following at least one year except for one case with recrudescence.CONCLUSIONS Vaccum-assisted closure is the most effective surgery therapy measurement and is a kind of unidirectional drainage.If we can use it felicitously then we can treat infection in orthopedics′ effectively.

Objective: To observe the postoperative skeletal changes of mandibular setback via bilateral sagittal ramus split osteotomy (BSSRO) with circummandibular wiring and maxillomandibular fixation. Methods: BSSRO was performed in 14 cases to setback the mandible. The patients were followed up for 6 months by clinical observation and examined with lateral cephalometric radiographs and Schuller's position radiographs before and after surgery. Results: According to the measured parameters the ralapse extent was 27.2%. Multiple regression analysis showed the magnitude of the setback significantly accounted for relapse (P

BACKGROUND: Several studies have focused on the association between the lipid-lowering efficacy of statins and the SLCO1B1 c.521T>C polymorphism; however, the results are conflicting. The effects of statins show significant variability between individuals. This meta-analysis aimed to investigate the effects of the SLCO1B1 c.521T>C polymorphism on the lipid-lowering effects of statins. METHODS: We systematically searched PubMed and Web of Science to screen relevant studies. Meta-analysis was performed to identify the association between SLCO1B1 c.521 polymorphisms and the lipid-lowering effects of statinson the basis of the standard mean difference (SMD) and 95% confidence intervals (CIs). Additionally, we checked for heterogeneity (I 2) among studies and evidence of publication bias. We obtained eight studies including 2,012 wild genotype (T/T) and 526 variant genotype (T/C and C/C) cases. RESULTS: No significant difference was observed in the lipid-lowering efficacy of statins between the wildand variant genotypes of SLCO1B1, with a pooled SMD of 0.03 (95% CI: -0.07-0.13). Furthermore, there was no significant effect in the meta-analyses of the variant heterozygote, homozygote, and Chinese populations. Subgroup meta-analysis indicated that the timerequired for the statin to take effectdid notsignificantly affect the association between lipid-lowering efficacy of statins and SLCO1B1 c.521T>C polymorphism. However, thewild genotype improved the lipid-lowering efficacy of simvastatin with a pooled SMD of -0.26 (95% CI: -0.47- -0.05). CONCLUSIONS: No significant association was detected between the lipid-lowering efficacy of statins and the SLCO1B1 c.521T>C polymorphism, with the exception of simvastatin.
Alleles ; Databases, Factual ; Genotype ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/*therapeutic use ; Hyperlipidemias/drug therapy/genetics ; Polymorphism, Single Nucleotide ; Solute Carrier Organic Anion Transporter Family Member 1b1/*genetics

OBJECTIVETo systematically evaluate the efficacy and safety of electroacupuncture (EA) for post stroke cognitive impairment (PSCI).

METHODSThe randomized clinical trials (RCTs) regarding EA for PSCI published before October of 2016 were researched in China National Knowledge Infrastructure (CNKI), Chinese Biomedical Database (CBM), WanFang database, VIP medicine information system, PubMed and Cochrane Library. The literature screening and information extraction was conducted by two independent reviewers. The quality assessment was performed based on the guidance of the Cochrane Reviewers' Handbook, and Meta-analyses was performed by using RevMan 5.3 software.

RESULTSTotally 14 RCTs were included, involving 896 PSCI patients. The results of Meta-analyses showed the EA group was superior to the control group in improving the MMSE [=1.78, 95%(0.24, 3.32),=0.02], the MoCA [=1.92, 95%(0.96, 2.88),<0.000 1], P300 latency [=-11.01, 95%(-18.91, -3.11),=0.000 6], P300 amplitude [=1.56, 95%(1.14, 1.98),<0.000 01], FMA score [=10.74, 95%(2.67, 18.82),=0.009] and the clinical effective rate [=1.37, 95%(0.98, 1.91),=0.06]. However, the comparison of BI score in both group had no significant differences [=6.38, 95%(-2.41, 15.18),=0.15].

CONCLUSIONThis Meta-analyses confirmed EA is effective and safe for PSCI, which could improve cognitive function and motor function. However, because of low quality of the included studies, more well-designed multicenter RCTs are needed.

Gluconacetobacter xylinus is a primary strain producing bacterial cellulose (BC). In G. xylinus, BcsD is a subunit of cellulose synthase and is participated in the assembly process of BC. A series of G. xylinus with different expression levels of the bcsD gene were obtained by using the CRISPR/dCas9 technique. Analysis of the structural characteristics of BC showed that the crystallinity and porosity of BC changed with the expression of bcsD. The porosity varied from 59.95%-84.05%, and the crystallinity varied from 74.26%-93.75%, while the yield of BC did not decrease significantly upon changing the expression levels of bcsD. The results showed that the porosity of bacterial cellulose significantly increased, while the crystallinity was positively correlated with the expression of bcsD, when the expression level of bcsD was below 55.34%. By altering the expression level of the bcsD gene, obtaining BC with different structures but stable yield through a one-step fermentation of G. xylinus was achieved.
Cellulose/chemistry* ; Clustered Regularly Interspaced Short Palindromic Repeats ; Fermentation ; Gluconacetobacter xylinus/metabolism*

Primary familial brain calcification (PFBC) is an inherited neurodegenerative disorder mainly characterized by progressive calcium deposition bilaterally in the brain, accompanied by various symptoms, such as dystonia, ataxia, parkinsonism, dementia, depression, headaches, and epilepsy. Currently, the etiology of PFBC is largely unknown, and no specific prevention or treatment is available. During the past 10 years, six causative genes (SLC20A2, PDGFRB, PDGFB, XPR1, MYORG, and JAM2) have been identified in PFBC. In this review, considering mechanistic studies of these genes at the cellular level and in animals, we summarize the pathogenesis and potential preventive and therapeutic strategies for PFBC patients. Our systematic analysis suggests a classification for PFBC genetic etiology based on several characteristics, provides a summary of the known composition of brain calcification, and identifies some potential therapeutic targets for PFBC.
Animals ; Brain Diseases/therapy* ; Xenotropic and Polytropic Retrovirus Receptor ; Brain/pathology*