AIM:To identify intragenic mutation loci of the BEST-1 gene with congenital vitelliform macular dystrophy by molecular genetic analysis at one family in Northeast China.
METHODS: Genomic DNA was extracted from peripheral leukocyte of 2 patients and 5 healthy members in the family with vitelliform macular dystrophy and 100 normal controls. Ten exon sequences of BEST - 1 amplified by polymerase chain reaction ( PCR ) were made direct DNA sequencing to define the gene mutation loci and compared with gene screening performed on 100 normal controls.
RESULTS: After the direct DNA sequencing, no mutation loci was found in all the patients of this family with vitelliform macular dystrophy.
CONCLUSION:There is no mutation in the exons of BEST-1 gene causing disease genes in this family.

ObjectiveTo investigate the feasibility and influence factors of a new silver salt method for determination of arsenic in drinking water. Methods Arsenic was determined at different reaction temperature,acidity, specification and addition of zinc granular, fill weight of lead acetate cotton, and the effect of these factors on assay results was observed. Arsenic in drinking water was determined in accordance with standard test methods (GB/T 5750.6) of the new silver method. Results The recoveries of the arsenic were 75.3％ - 93.6％(F =9.21,P ＜ 0.01 ) with reaction temperature at 10 - 30 ℃, and the best reaction temperature was 25 ℃. The recoveries of the arsenic ranged from 80.3％ - 91.6％(F =4.67, P＜ 0.05) when sulfuric acid was 3.0 - 6.0 ml and the best value was 5.0 ml. The recoveries of the honeycomb structural zinc granular(diameter 0.2 - 0.3, 0.3 - 0.4 mm) and button zinc granular were 87.2％, 90.7％ and 83.0％, respectively; the best specification was 0.3 - 0.4 mm. The recoveries of zinc granular weight(3 - 5 g ) were 74.6％ - 91.7％, respectively; the best was 5 g. The recoveries ranged from 79.6％ - 91.3％ with fill weight of lead acetate cotton at 25 - 100 mg, the best fill weight was 50 mg.The recoveries of the arsenic were 90.7％, 92.5％, 81.5％ and 74.2％ with lead acetate cotton length at 0.5 - 2.0 cm,and the best loose-tight degree was 1.0 cm. The stability time of arsine solution was 5.0, 4.0, 2.5 h with corresponding temperature at 20, 25, 30 ℃, respectively. ConclusionsIn order to ensure precision and accuracy of the measurement, it is necessary to control reaction temperature, acidity, specification and addition of zinc granular free from arsenic, fill weight of lead acetate cotton and loose-tight degree in the reaction system.

Adolescent ; Humans ; Male ; Parasomnias

Air ; analysis ; Chromatography, Gas ; methods ; Ketones ; analysis ; Workplace

Dermatomycoses ; drug therapy ; Drug Therapy, Combination ; Humans ; Medicine, Chinese Traditional ; Phytotherapy ; Sexually Transmitted Diseases ; drug therapy ; Skin Diseases ; drug therapy ; Skin Diseases, Viral ; drug therapy

Objective To evaluate the efficacy of percutaneous vertebroplasty for treating the vertebral compression fractures and vertebral metastatic neoplasms, and to assess its clinical curative effects Methods Among 81 cases (47 men and 34 women; ages 35～84, mean age 61 2 years), 110 vertebrae with metastatic neoplasms (61 cases) or vertebral osteoporosis (20 cases) were infused with methacrylate guided by DSA Effect of the operations was observed closely after the procedures Results The procedures were successful in all the involved patients and no significant complications were noted clinically Among the 61 patients treated for malignancies, 58 showed marked pain relief and 3 moderate pain relief 20 patients with vertebral osteoporosis demonstrated complete pain relief The cement leakage observed on radiographs included slight leakage to the adjacent disc (6 of 110, 5 5%), the epidural fat (8 of 110, 7 3%), the perivertebral venous plexus (2 of 110, 1 8%), and the paravertebral soft tissues (2 of 110, 1 8%) Conclusion Percutaneous vertebroplasty can significantly relieve the pain in patients with osteoporotic fractures caused by the malignancies and the vertebral osteoporosis We suggest that slight PMM leaks, when not symptomatic, should not be considered as complications

Objective To study the clinical result of the surgical treatment of upper cervical vertebra disease from high anterior cervical retropharyngeal approach.Methods Among 14 patients,there were 7 C_(2.3)disc hernia- rions combined with C_(2.3)dislocations,3 Hangman fractures,2 odontoid process fractures and 2 C_3 tumors.All patients underwent the high anterior cervical retropharyngeal approach.10 cases were given discectomy of C_(2.3)or focus clear- ance of C_3,iliac bone autograft or titanium cage filled and internal fixation with titanium plate.2 cases of odontoid process fractures were given anterior screw fixation.Results 14 cases got successful exposure.The decompression, reduction,lesion clearance and fusion with internal fixation were done in all patients.There were no important vascu- lar or nerve injuries.The surgical treatment could improve the spinal cord nerve function to a certain degree for the cases with compression of spinal cord.Conclusion Good exposure of upper cervical spine and effective surgical oper- ation could be achieved from high anterior cervical retropharyngeal approach,with minimal trauma and complication, and it was a favorable approach.

To prepare large naive phage antibody library, the host bacteria with high transformation efficiency is used in the Cre-LoxP recombination system. The variable regions of immunoglobulin light and heavy genes were amplified from lymphocytes collected from adult peripheral blood and newborn cord blood. The genes were spliced to form the single-chain variable fragments (scFv) by overlap PCR, cloned into pDAN5a vector and then transformed into XL2-blue MRF' with the Hte gene. Compared with XL1-blue strain, the size of the primary library was increased by 3.9 times. The primary library infected Cre recombinase-expressing bacteria, and the genes between phagemids created many new VH/VL combinations. The library was calculated to have a diversity of 1.7 x 10(11) and validated by the selection of antibodies against six different protein antigens. This library provides the basis for further selection of antibody-based drugs. It is the first time to report that XL2-blue MRF' can be used to improve the diversity of the library in the recombination system.

Objective To primarily explore the efficacy and adverse effects of the combination of fiudarabine,cytarabine and granulocyte colony-stimulating factor(G-CSF)(FLAG regime)therapy for relapsed and refractory acute leukemia in children.Methods Ten children were treated with the FLAG regime for relapsed and refractory acute myeloid leukemia (AML)and acute lymphoblastic leukemia(ALL)from Feb.2007 to Mar.2010.There were 8 male and 2 female,with mean age 8 years(ranging from 4 to 12 years).AML was diagnosed in 8 children,AML-M2 in 5 cases,AML-M4 in 3 cases.ALL was diagnosed in 2 children,both were B-ALL.Six children had refractory disease,and 4 cases were in relapse.FLAG regime included:fludarabine 25 mg?m-2?d-1,days 1-5;cytarabine 2 g?m-2?d-1,days 1-5;G-CSF 150-300 ?g?d-1,from day 0 to neutrophils ≥0.5?109 L-1.Results Complete remission was obtained in 6 children(60%),partial remission was obtained in 1 child(10%),and 3 children were considered non-response(30%).The total effective rate was 70%.For 8 children with AML,6 children had achieved complete remission(75%),2 children had non-response(25%).While in children with ALL,1 child got partial remission,and the other one had non-response.Myelosuppression and infections due to neutropenia were the most frequent adverse effects,severe nonhematologic toxicity were not observed in these children.And there were no chemotherapy-related death.Conclusions The FLAG regime is effective in treatment of children with relapsed and refractory acute leukemia,especially for the children with the relapsed and refractory AML.The adverse effects from this regime were well tolerated.FLAG regime can give children with relapsed and refractory acute leukemia another chance.

Adult ; Computer-Aided Design ; Humans ; Male ; Malocclusion ; diagnostic imaging ; therapy ; Orthodontic Appliance Design ; Orthodontic Brackets ; Orthodontic Wires ; Radiography, Panoramic