Dystonia is a syndrome which is characterized by sustained muscle contractions, producing twisting, repetitive, and patterned movements, or abnormal postures. According to genetic basis, dystonia is classified into 13 subtypes. We mainly discussed two subtypes, DYT1 and DYT5, in this review. Early-onset primary dystonia is caused by the mutation of DYT1 gene, which leads to TORSINA abnormal. GTP cyclohydrolase 1 (GTPCH1)-deficient DRD(DYT5) is caused by the mutations of GCH1 gene. By genetic testing, we can confirm clinical diagnosis of each subtype and develop prenatal diagnosis for it.

OBJECTIVE To evaluate the germicidal efficacy of phthalaldehyde disinfectant.METHODS Suspension quantitative bactericidal test was used to observe its bactericidal efficacy and stability.RESULTS The temperature was 20-21℃.The results showed that the average killing rates of Escherichia coli,Staphylococcus aureus and Candida albicans exposed to the solution containing 5 664mg/L phthalaldehyde for 1 min were 99.99%,and the(average) killing rates of spores of Bacillus subtilis var.niger exposed to the solution containing 5 664mg/L(phthalaldehyde) for 60 min and 90 min was 99.94% and 100%,respectively.When its stock solution was stored at 56℃ under airtight condition for 2 weeks,the content of phthalaldehyde decreased by 3.27%.CONCLUSIONS The phthalaldehyde disinfectant is a good and stable bactericide.

OBJECTIVE To investigate and analyze the application of prophylactic antibiotics in perioperative period in hospital.METHODS Totally 2 055 cases under operation were investigated prospectively from Jun to Dec in 2005.RESULTS The rate of antibiotics usage was 99.95% among the 2 055 cases.The usage of antibiotics in aseptic wound was 99.92%,and in aseptic-contaminative and contaminative wound was all 100%;72.47% of the patients received single antibiotic treatment,25.84% and 1.12% received 2 to 3 kinds of antibiotics combined therapy respectively.The mean time of the usage of antibiotics during perioperative period was 8.16 days,and that for aseptic,aseptic-contaminative and contaminative wound was 8.1,8.2,and 8.2 days,respectively.29.65% Patients were given antibiotics in 0.5-2 hours before operation,68% were given after operation.The duration of antibiotics therapy less than 48 hours was only 3.45%.The rate of wound infection was 0.75% in patients. The rate of wound infection of aseptic,aseptic-contaminative and contaminative operations was 0.29%,1.33% and 3.42%,respectively.CONCLUSIONS Application of prophylactic antibiotics during perioperative period in hospital is not reasonable.The problem is improper time that given antibiotics,improper kind of antibiotics selected and too long duration of the antibiotics therapy.It is necessary that the antibiotics administration should be standardized.

OBJECTIVE To assess the clinical characters,diagnosis and treatment of invasive pulmonary(aspergillosis) in hemopathy patients.METHODS The hospitalized patients with hemopathy from Jul 2004 to Jun 2005 was retrospectivly analyzed.RESULTS Among 155 hemopathy cases,3 cases developed invasive pulmonary(aspergillosis),from them 2 died and 1 cured.CONCLUSIONS Overimmnosuppression is one of the main risk factors for invasive pulmonary aspergillosis.Amphotericin B is still the best choice for the treatment of aspergillosis and its gradual,low concentration administration can ease the side effects.

2 weeks,(P

Objective To analyze and determine the clinical, molecular pathology and genetic features of a Chinese family with dystrophinopathy. Methods Clinical data of the proband and his family members were collected. Immunohistochemistry staining was performed on muscular biopsy tissues with antimerosin, emerin and the N, C and central rod domains of dystrophin. Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes. Multiplex ligation-dependent probe amplification (MLPA) was used to test Duchenne muscular dystrophy (DMD) gene to determine the ways and sites of genetic mutation, and analyze the relationships between genotype and phenotype. Results Patients from this family were clinically diagnosed as muscular dystrophy, and they presented serious manifestations although the immunohistochemistry analysis for the proband exhibited partial loss of dystrophin staining, and positive expression with merosin and emerin. Further test with MLPA detected the loss of exons 45--54 in DMD gene in the proband, while his mother had heterozygositic loss in exons 45--54. Conclusions The losses of exons 45--54 in the proband are all derived from his mother, who carries genetic mutation with normal phenotype. He has been diagnosed as dystrophinopathy. At the same time, his partial loss of dystrophin is not parallel to the out-of-frame mutation of the gene and his severe clinical manifestations. Abnormal expression of dystrophin is the pathological basis for dystrophinopathy phenotype. Its clinical outcome depends not only on the degree of the protein expression, but also on the function of the sites where the DMD gene less occurs.

OBJECTIVE To study the etiological diagnosis of invasive aspergillosis by the monoclonal antibodies against Aspergillus fumigatus. METHODS An animal model of rabbit invasive aspergillosis was established.The antigen of A.fumigatus in serum was detected by ELISA.The antigen of A.fumigatus in tissue was detected by immunochemistry. RESULTS ELISA assay showed positive 24,48 and 72 hours after infection.Immunochemistry was positive 72 hours after infection. CONCLUSIONS The monoclonal antibodies against A.fumigatus has great potency usage.

Chronic hepatitis B (CHB) is one of the most important infectious diseases around the world. Currently, interferon and nucleos(t)ide analogues are the main drugs for CHB and have good therapeutic efficacy, but the ultimate goal of eliminating hepatitis B virus (HBV) in human body has not been achieved. Therefore, it is of vital importance to explore new therapeutic strategies and develop new drugs for CHB. Persistent HBV infection is closely associated with human body′s immune status, and studies have shown that immunotherapy may help to cure CHB. With reference to CHB patients′ immune status, this article reviews the research advances in new immunotherapeutic strategies including Toll-like receptor agonists, cell therapy, and therapeutic vaccines.

Objective To evaluate the rational preventive application of antibiotics during perioperative period of intracranial operations.Methods A prospective study was adopted to investigate the differences of infection rate of surgical site between the group of rational application of antibiotics (406 patients with type Ⅰ incision intracranial operations of neurosurgery in 2011) and the control group (479 patients with type Ⅰ incision intracranial operations ofneurosurgery in 2012).Results The antibiotic treatment period was shortened from (5.16±3.90) days in the control group to (2.77± 1.81) days in group of rational application of antibiotics (t=11.994,P=0.000); while surgical site infection rate was decreased from 14.61％ to 10.10％ (x2=.084,P=0.043).Conclusion Surgical site infection rate in type Ⅰ incision intracranial operations could be reduced and the antibiotic treatment period would be shortened if rational preventive application of antibiotics during the perioperative period could be applied.

OBJECTIVETo establish two double-antigen sandwich ELISA systems to detect anti-Afmp1cr and Afmp2cr antibodies of Aspergillus fumigatus.

METHODSRecombinant Afmp1cr and Afmp2cr proteins of A.fumigatus expressed in Pichia pastoris were obtained. Double-antigen sandwich ELISA systems for detecting specific anti-Afmp1cr and anti-Afmp2cr antibodies were developed after chessboard titrating to determine the appropriate concentrations of the recombinant proteins and HRP-labeled proteins. The sensitivity of the assay was evaluated using serum samples of rabbits immunized with Afmp1cr and Afmp2cr. The specificity of the assay was evaluated by detecting serum samples from healthy donors and patients with other pathogenic fungal and baterial infections. The performance of the two ELISA kits was furthered evaluated using serum samples from patients with suspected Aspergillus infection.

RESULTSThe established ELISA kits were capable of detecting anti-Afmp1cr and anti-Afmp2cr antibodies in immunized rabbit serum at the maximum dilutions of 800 and 3200, respectively. No cross-reactivity was observed in detecting serum from patients with other pathogenic fungal or bactetial infections. Both of the two kits yielded positive results in sera from two established Aspergillus-infected cases and a suspected case.

CONCLUSIONSTwo antibody-capture ELISA kits were developed for the laboratory diagnosis of A.fumigatus infection and can be potentially useful in the clinical diagnosis of Aspergillosis infections.

Animals ; Antibodies, Fungal ; isolation & purification ; Antigens, Fungal ; Aspergillosis ; diagnosis ; Aspergillus fumigatus ; Cross Reactions ; Enzyme-Linked Immunosorbent Assay ; Humans ; Pichia ; Rabbits ; Recombinant Proteins ; Sensitivity and Specificity