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.

Adolescent ; Humans ; Male ; Parasomnias

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

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.

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

Bone Screws ; utilization ; Female ; Foot Diseases ; surgery ; Fracture Fixation, Internal ; instrumentation ; methods ; Humans ; Internal Fixators ; utilization ; Metatarsus ; abnormalities ; surgery ; Osteochondritis ; congenital ; surgery ; Young Adult

Adolescent ; Adult ; Drug Therapy, Combination ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Hepatitis B, Chronic ; drug therapy ; Humans ; Injections, Intravenous ; Male ; Middle Aged ; Phytotherapy ; RNA ; administration & dosage ; Salvia miltiorrhiza ; chemistry

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

Adolescent ; Adult ; Drug Therapy, Combination ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Glycyrrhizic Acid ; therapeutic use ; Hepatitis B, Chronic ; complications ; Humans ; Liver Cirrhosis ; drug therapy ; etiology ; Male ; Middle Aged ; Phytotherapy ; Salvia miltiorrhiza