Objective To explore the clinical and laboratory features,and gene diagnosis method of Menkes disease (MD).Methods The clinical and laboratory features and gene diagnosis method of 2 infants with MD were reviewed.Results (1) Clinical features:both infants mentioned in this article were male.Their clinical manifestations were both began at 3-4 months age,including peculiar kinky hair,pale skin,pudgy cheeks,inguinal hernia,vessel abnormality,epilepsy and mental retardation.(2) Laboratory features:the ceruloplasmin concentrations significantly reduced to be ＜ 20 mg/L and 47 mg/L,respectively.The magnetic resonance angiogram images of case 1 showed the abnormal tortuosity of his intracranial vessels.The magnetic resonance images of case 2 showed a rapid progress from normal to severe brain atrophy within half a year.(3) Gene diagnosis:the sequencing of ATP7A gene in case 1 showed a nonsense mutation of c.2110 C ＞ T.The pathogenicity of this mutation had not been reported previously at home and abroad.The sequencing of the gene panel without pathogenic mutation was detected in case 2.But the multiplex ligation-dependent probe amplification test showed a gross deletion of ATP7A gene containing 8-12 exons.This mutation had been documented as a pathogenic mutation of MD.Both mothers of 2 patients were heterozygous mutation carriers of normal phenotype.Conclusions MD is a multisystemic disease caused by ATP7A gene mutation resulting in copper metabolism disorder.MD is inherited as an X-linked recessive trait.MD is characterized by kinky hair,connective tissue abnormalities and progressive neurodegeneration.Clinical diagnosis can be made on the basis of clinical features,findings of blood biochemical examination,and radiological findings.Gene sequencing and multiplex ligation dependent probe amplification test are the main technique widely used for genetic diagnosis.

Bronchi ; pathology ; Bronchoscopy ; Female ; Foreign Bodies ; diagnosis ; Humans ; Middle Aged

Acupuncture Therapy ; Adolescent ; Adult ; Ataxia ; congenital ; drug therapy ; therapy ; Child ; Combined Modality Therapy ; Drugs, Chinese Herbal ; administration & dosage ; Female ; Humans ; Male ; Moxibustion ; Spinal Cord Diseases ; congenital ; drug therapy ; therapy ; Young Adult

Objective To investigate the effect of bisphosphonate medication (zoledronic acid,aclasta) on spinal fusion for osteoporotic patients through radiographic,clinical,and biological assessments.Methods A total of 79 patients with osteoporosis who were candidates for single-level posterior lumbar interbody fusion was randomly assigned to the experimental group (zoledronic acid injection,5mg,on the third day after surgery) or the control group (the same amount of saline injection,on the third day after surgery).Functional radiography and CT scans were used to evaluate fusion status.Bridging bone formation was graded into 3 categories:Grade A (bridging bone through bilateral vertebral),Grade B (bridging bone through a unilateral vertebral),or Grade C (incomplete bony bridging).The incidence of vertebral compression fractures occurring after surgery was assessed by means of MR imaging.A solid fusion was defined as less than 5° of angular motion in flexion-extension radiographs and the presence of Grade A or B bridging bone.Bone metabolic markers (β-C-terminal telopeptide of type Ⅰ collagen,β-CTX; and N-terminal propeptide of type Ⅰ collagen,PINP) were measured to investigate the biological effects of zoledronic acid on spinal fusion.Bone mineral density of femoral neck was measured by the dual X-ray absorptiometry.Clinical outcome was evaluated by means of the Oswestry Disability Index (ODI).Results Grade A or B bridging bone was more frequently observed in the experimental group at 3,6,and 9 months postoperatively (all P ＜ 0.05,respectively,Mann-Whitney U-test).At 12-months postoperative follow-up,bridging bone and solid fusion were not significantly different.No vertebral fractures were observed in the experimental group,whereas 6 patients in the control group showed vertebral compression fractures(P ＜ 0.05,Mann-Whitney U-test).Biochemical analysis of bone turnover demonstrated that zoledronic acid inhibited bone resorption from the early phase of the fusion process and also suppressed bone formation.Poor clinical results in the control group were demonstrated by ODI.Conclusions Osteoporosis patients undergoing spinal fusion who take bisphosphonates throughout the postoperative period was recommended.

ive] To isolate the active constituents with analgesic and antemetic actions from Rhizo-ma Alpiniae Officinarum. [Methods] Polyamide and silica gel column chromatography was used to isolate and extract the analgesic and antemetic constituents. The structure of compounds was identified by ultra violet spectroscopy, infrared spectroscopy, mass spectroscopy and nuclear magnetic resonance spectrosco-py. [ Results ] Galangin and kaempferide are identified as the analgesic and antemetic constituents. [Conclusion] Galangin can be used as the quality control for Rhizoma Alpiniae Officinarum.

Objective To understand the kinds and content of antibiotic used in the toothpaste selling in China. Methods 10 kinds of toothpaste samples labelled to be able to prevent and/or cure some oral diseases were collected from the supermarkets, the contents of antibiotic were determined by HPLC after selected by disk diffusion susceptibility test. Results Norfloxacin was detected in one kind of toothpaste collected from several supermarkets, the content was 0.06%. Metronidazole was detected in two kinds of toothpaste, the contents were 0.01% and 0.37% respectively, no tinidazole was detected in all samples. Conclusion Some antibiotic in common use have been detected in some toothpaste sold in supermarkets in China.

Objective To study the relation between the quantity of DNA extracted by Chelex-100 method and multiplex STRs analysis.Methods DNA extracted from a variety of common forensic casework specimens were quantified by using Real-time PCR,and then amplified with AmpFLSTR IdentifilerTM PCR Amplification kit.ResultsAccording to the results of quantification,the quantities of DNA extracted from 113 samples by Chelex-100 method were adjusted to 0.5~3ng for establishing 8?l amplification system,and in this condition,most of 113 forensic casework specimens could be successfully genotyped.Conclusion When the quantity of DNA extracted by Chelex-100 method ranged from 0.5ng to 3ng,most results of multiplex STRs analysis were satisfying.Moreover,the amplification effect of 1?l DNA template was better than 3?l DNA template when the concentrations of extracted DNA were more than 0.5ng/?l.

Ten compounds were isolated and purified by column chromatography over silica gel, preparative TLC, and Sephadex LH-20 from the whole plant of Solanum lyratum. The structures were elucidated on the basis of physico-chemical properties and spectral data as 1beta-hydroxy-1 ,2-dihydro-alpha-santonin (1) , boscialin (2) , blumenol C (3), 3beta-hydroxy-5alpha, 6alpha-epoxy-7-megastigmen-9-one(4), dehydrovomifoliol(5) , blumenol A(6), (1'S,2R,5S, 10R) -2-(1', 2'-dihydroxy-l1'-methylethyl) -6,10-dimethylspiro[4,5] dec-6-en-8-one(7) , (1'R,2R,5S,10R)-2-( 1',2'-dihydroxy-l '-methylethyl) -6,1 l0-dimethylspiro[4,5]dec-6-en-8-one( 8) , 2-(1',2'-dihydroxy-1 '-methylethyl) -6,1 0-dimethyl-9-hydroxyspiro [4,5] dec-6-en-8-one (9) , and grasshopper ketone (10). Compounds 1-10 were isolated from this plant for the first time.
Drugs, Chinese Herbal ; chemistry ; Solanum ; chemistry ; Terpenes ; analysis ; isolation & purification

The main problems and solutions of mineral drugs in clinical use were studied based on the investigation on the quality of Haematitum and Fluoritum pieces in venalicium. The outward appearance and intrinsic quality of Haematitum and Fluoritum pieces in venalicium were studied by the requires which were in the first part of Chinese Pharmacopoeia published in 2010. The outward appearance and intrinsic quality of mineral drugs had large differences, the disqualification rate was 41.67% in 12 batches of Haematitum pieces and the disqualification rate was 53.85% in 13 batches of Fluoritum pieces. The crushing granularity of mineral drugs should be defined, the quality standards should be further improved. The drug adiministration ought to strengthen inspection and supervision in order to ensure the stability and reliability of the clinical efficacy.
Medicine, Chinese Traditional ; standards ; Minerals ; standards ; Quality Control

BACKGROUND: Various types of collagen affect differentiation and expression of chondrocytes in the process of tissue engineered culture for cartilage. The reliability of cartilage tissue engineering is determined by resource, structure and property of collagen.OBJECTIVE: To characterizing the structure of collagen type Ⅰ,Ⅱ and Ⅲ, to clarify the structural characteristics of collagen for cartilage tissue repairing and provide guidance for choosing cartilage tissue engineering scaffolds. METHODS: The type Ⅰ and Ⅲ collagen was obtained from neonatal calf skins, and type Ⅱ collagen was obtained from porcine articular cartilage. The differences of structures of collagen type Ⅰ,Ⅱ and Ⅲ were analyzed and compared by FTIR, DSC, SDS-PAGE and picrosirius-red staining.RESULTS AND CONCLUSION: The neonatal calf collagen type Ⅰ,Ⅱ and porcine collagen type Ⅱ had the similar functional group. The thermal denaturation temperature of the three type collagen was 104.2 ℃, 99.7 ℃ and 92.5 ℃. SDS-PAGE analysis showed the collagen type Ⅲ percentage in collagen type Ⅰ was (11.29±0.91)%. Picrosirius-red staining exhibited that the collagen type Ⅰ was comprised red and orange raw fibers, with strongly birefringent. Collagen type Ⅲ was lax and thin, greenish fibers, but collagen type Ⅱ was red, loosely cancellated fibers. The functional groups and important characteristics of the three of collagen are similar. However, there are some differences in advanced structure. To analyze the relationships of collagen type Ⅰ,Ⅱ and Ⅲ is important to choose and prepare scaffolds for cartilage tissue engineering.