Objective To explore the importance of gene diagnosis and prenatal diagnosis of spinal muscular atrophy(SMA),and improve the clinical diagnosis of SMA by analyzing the electrophysiological and gene characteristics of SMA.Methods Fifteen cases with SMA including 9 male and 6 female were enrolled in this study.The age was 5 months to 12 years.The 15 cases were subdivided into 3 clinical types,5 cases of type Ⅰ including 3 male and 2 female aging 5-18 months;7 cases of type Ⅱ including 4 males and 3 females aging 5 months-3 years;3 cases of type Ⅲ including 2 male and 1 female aging 3-12 years.They were all characterized by symmetric muscle weakness(more proximal than distal)associated with atrophy,absence or marked decrease of deep tendon reflexes,loss of voluntary movement and inability to sit or stand.The clinical characteristics and changes of electromyography(EMG)and nerve conduction velocity were assessed in all cases by using Danish Medoc Keypoint myoelectricity and evoked potentials inducer.The survival of motor neuron(SMN)gene was detected by PCR and restriction endonuclease spectrum analysis in 10 cases.Results EMG analysis found 94% patients had spontaneous potential,90% patients had increased duration of motor unit,and amplitude increased in 89% patients.Motor nerve conduction velocity was determined in 78 nerves.Motor nerve compound action potential wave amplitude decreased in 52 nerves,among them,distal latent period prolonged and motor conduction velocity reduced slightly in 36 nerves.Sensory nerve conduction velocity was determined in 45 nerves and remained normal.The SMN gene detection revealed deletion of exon 7 and 8 in 9 cases,deletion exon 7 in 1 case.The SMN gene detection in 10 patients and their parents didn't find any deletion of exon 7 and 8.Conclusions The definite diagnosis of SMA will rely on the typical clinical characteristics,changes of EMG and gene deletion analysis.Gene diagnosis of SMA lays a basis for prenatal diagnosis.

Adult ; Aged ; Antigens, CD34 ; metabolism ; Chondrosarcoma, Mesenchymal ; metabolism ; pathology ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Hemangiopericytoma ; metabolism ; pathology ; radiotherapy ; surgery ; Humans ; Male ; Meningeal Neoplasms ; metabolism ; pathology ; radiotherapy ; surgery ; Meningioma ; metabolism ; pathology ; Middle Aged ; Neoplasm Recurrence, Local ; Proto-Oncogene Proteins c-bcl-2 ; metabolism ; Solitary Fibrous Tumors ; metabolism ; pathology ; Vimentin ; metabolism ; Young Adult

Objective To assess and compare the effectiveness of gadolinium diethylenetriamine pentacetic acid(Gd-DTPA) solution and barium sulfate(BaSO4) suspension with different concentrations in improving the imaging quality of magnetic resonance cholangiopancreatography(MRCP). Methods The phantom study was carried out to determine the optimal concentration of Gd-DTPA and BaSO4 suspension used as an oral negative contrast agent in MRCP.The patients were grouped randomly and performed MRCP before and after using oral contrast agents in combination with intravenous injection of contrast agents.A comparison of the influence of BaSO4 suspension and Gd-DTPA with different concentrations on the signal intensity of the fluid in gastrointestinal tract on MRCP images was made.Results The phantom study showed that the dilution ratio 1∶10 of Gd-DTPA solution and 100%(W/V)BaSO4 suspension were the optimal concentrations in decreasing the signal intensity.In all patients the high signal intensity of the gastrointestinal fluid was completely suppressed after oral administration of Gd-DTPA diluted solution(P

Objective To evaluate the correlation between cerebral blood volume and permeability surface by using muhislice CT perfusion imaging with glioma grade.Methods Ninteen patients with gliomas underwent conventional MR and multislice CT perfusion imaging preoperatively.These patients were divided into low grade and high grade groups which were correspond to WHO Ⅱ grade gliomas and WHO Ⅲ or Ⅳ grade gliomas respectively.CT data were transferred to on-line working station and processed to obtain time-signal curves,color perfusion maps and calculated perfusion parameters,including cerebral blood volume(CBV),cerebral blood flow(CBF),mean transit time(MTT)and permeability surfaces (PS)in tumoral parenchyma.Kruskal-Wallis test and correlation of CBV and PS was assessed by using SPSS 11.0 software.Results The median of CBV and PS in low-grade and high-grade glioma were 2.7, 6.5 ml/100 g;0.389,12.810 ml?100 g~(-1)?min~(-1),respectively,corresponding t value were 12.907, 13.500 with P

Objective To investigate the potential role of angiotensinⅡ(AngⅡ)-angiotensinⅡreceptor 1 (ATRI) pathway on inflammatory activation in the lung of rats. Method Twenty four Sprague-Dawley rats were randomly divided into four groups: control group, Ang II group, AngⅡ+losartan group and losartan group. Lung wet/dry weight (W/D) was recorded to assess lung injury. The total lung homogenates were prepared to detect nuclear factor-kappa B (NF-?B) activation by electrophoretic mobility gel shift assary (EMSA), tumor necrosis factor (TNF)-?mRNA expression by reverse transcription polymerase chain reaction (RT-PCR), myeloperoxidase (MPO) and malondialdehyde (MDA) by colorimetry. Plasma yon Willebrand Factor (vWF) were assessed by enzyme-linked immunosorbent assay (ELISA). Meanwhile, pathological changes were examined under optical microscope. Results Histologically, alveolar edema, hemorrhage, and massive inflammatory cell infiltration were observed in AngⅡgroup, but not in control group and losartan group. Compared with AngⅡgroup, histological injury was lesser in AngⅡ+ losartan group. In AngⅡgroup, lung W/D, NF-?B activation, TNF-?mRNA expression, MPO, MDA and vWF were markedly higher than those in the other three groups. There were not significant differences of lung W/D, NF-?B activation, TNF-?mRNA expression, MPO, MDA and vWF in control group, AngⅡ+ losartan group and losartan group. Conclusions Systemic infusion of AngⅡcould up- regulate inflammatory mediator expression and induce lung injury in rats. AngⅡ, acting mainly through ATRI, induced inflammatory activation in the lung of rats.

Secondary metabolites are the result of that plant interaction with biological and non-biological factors in the long-term evolution process, and play an important role in plant growth, development and physiology. The effective components of medicinal plant are usually the secondary metabolites in plant cells, and the synthesis of them are affected by a variety of factors, such as environmental impact. Acquirement of the secondary metabolites via callus culture has the advantage of low cost and less environmental impact. The synthesis and accumulation of medicinal plant secondary metabolites are not only controlled by light, temperature and pH, but also infected by germplasm, plant growth regulator and elicitor. This article presents a review of the influencing factors, and provides a basis for further study and development.
Light ; Plant Growth Regulators ; metabolism ; Plant Physiological Phenomena ; radiation effects ; Plants ; metabolism ; radiation effects ; Temperature

The proteins encoded by the Herpesviridae β-gene play a critical role in the replication stage of the virus. In this paper, phylogenetic analyses provided evidence that someβ-gene products, such as UL2 and UL23 from HSV1, have their homologous genes in its family, and also exist in prokaryotic organisms, indicating that these viruses appear to have been assembled over evolutionary time by numerous independent events of horizontal gene transfer.

Objective To study the bone biomechanics of the rabbit osteoporosis models induced by dexamethasone sodium phosphate injection (DX) using a combined treatment modality of 99Tc-MDP and GuKangLing.Methods Rabbits were intramuscularly injected with DX (2 mg/kg) twice a week for 6 weeks.The animal osteoporosis model group (Group C) and normal group (Group A) were compared to confirm the model was available.Another control group (Group B),the osteoporosis control group (Group D) were set for the comparison at the end of the experiment.The 99Tc-MDP therapy group (Group E),GuKangLing therapy group (Group F) and 99Tc-MDP plus GuKangLing therapy group (Group G) were included in the study.The treatment lasted for 16 weeks.The bone biomechanics,cytopathology bone histomorphology,bone mineral density (BMD),X-ray,CT,bone scintigraphy and serum bone alkaline phosphatase (BALP)and P (bone gla protein) were chosen as the markers or methods to evaluate the treatment results (excellent,effective and invalid).The analysis of variance (ANOVA) and t-test were used for group comparison analysis.Results Cytopathology result indicated that there was no bone trabecula destruction in Group A.However,there was distinct bone destruction in Group C.The bone biomechanics (left femur head (265.914 ±52.773) N,L4(369.671 ±94.919) N),BMD(left femur (0.238 ±0.016) g/cm2,L4(0.236 ±0.016) g/cm2)and bone histomorphology ( (66.230 ± 10.848) ％ ) in Group C reduced clearly as compared with Group A ((405.343±55.410) N,(750.870±53.718) N,(0.294±0.017) g/cm2,(0.302±0.023) g/cm2,( 131.500 ± 21.846) ％ ) ( t ≥4.550,all P ＜ 0.01 ).Radionuclide bone scan also showed that the uptake of tracers was higher by the main arthrosis in Group C than that in Group A.Vertebra was not clearly visualized on bone scan image.There were significant differences between Group A and Group C in serum BALP and P ((45.000±7.303) vs (12.485 ±1.512) U/L,(0.168±0.018) vs (0.115 ±0.017) μg/L,t =4.126,5.476,both P ＜ 0.01 ),which indicated that the animal osteoporosis model was available.The pathological results showed an improved recovery of bone structure and trabecular in Groups E and G,but a worse recovery in Group F.Biomechanics result in Groups E and G (left femur head (386.457 ±77.077) N and (432.771 ± 17.525) N,L4(649.550 ± 126.859) N and (655.443 ±76.555) N) improved apparently,which were similar to Group B.The radiotracer uptake in Group F was lower than that in group D.The bone biomechanics,bone histomorphology,BMD,serum BALP and P after the treatment showed significant differences in Groups E,F and G (F:8.556 - 31.608,all P＜0.01 ),and the bone biomechanics result in Group G was a little better than that in Group E (t =2.625,P ＜ 0.05 ).The results of Group G and E were considered as excellent,and Group F was considered as effective.Conclusions The treatment of 99Tc-MDP combined with GuKangLing could improve the bone biomechanics of rabbit osteoporosis models and may be a potential method to increase the bone strength for resisting external force.

OBJECTIVETo study whether As(2)O(3) has an apoptotic effect on human solid tumor cells, and the possible cellular and molecular mechanisms of this treatment using human esophageal squamous carcinoma cells (EC8712) as a model.

METHODSDNA microarray, biochemical and cytological analyses were used.

RESULTSThe growth and survival of EC8712 cells were markedly inhibited by As(2)O(3) treatment at a concentration of 1, 2 and 4 micromol/L. EC8712 cells were obviously arrested at G2/M phase with As(2)O(3) treatment and apoptosis induced at micromolar As(2)O(3) concentrations, as shown by morphology, histogram related nuclear DNA contents, and DNA gel electrophoresis. As(2)O(3) activated caspase-3, which might be involved in the process of As(2)O(3), induced apoptosis in EC8712 cells.

CONCLUSIONSAs(2)O(3) changes the expression of many genes at transcription level. The regulation of expression of many genes might be involved in the process of As(2)O(3) inducing apoptosis. These results suggest that As(2)O(3) can be clinically useful for solid tumor treatment.

Apoptosis ; drug effects ; Arsenicals ; pharmacology ; Carcinoma, Squamous Cell ; drug therapy ; genetics ; pathology ; Cell Adhesion ; drug effects ; Cell Division ; drug effects ; DNA Fragmentation ; drug effects ; Dose-Response Relationship, Drug ; Esophageal Neoplasms ; drug therapy ; genetics ; pathology ; Gene Expression Regulation, Neoplastic ; drug effects ; Humans ; Microscopy, Electron ; Oxides ; pharmacology ; Tumor Cells, Cultured ; drug effects ; ultrastructure

OBJECTIVETo introduce the METRx microendoscopes diskectomy system in the treatment of far lateral lumbar disc herniation.

METHODSFourteen cases of far lateral lumbar disc herniation were operated with METRx from February 1999 to December 2002. Among them, the average age was 49 years old (range 41 - 55 years old), male in 10 cases, female in 4 cases. All cases were single disc herniation; L(4), 5 herniation in 6 discs, L(5)-S(1) herniation in 8 discs; foraminal disc herniation in 6 cases, extra-foraminal disc herniation in 8 cases.

RESULTSAll the cases were followed up from 12 to 46 months (average 26.5 months) with the results of excellence in 10 cases, good in 3 cases, fair in 1 case and no failure case. There were no disc infection, dura laceration, nerve root injury and herniation recurrence.

CONCLUSIONSMETRx is suitable for far lateral lumbar disc herniation with the advantages of minimal invasive, complete decompression of nerve root and rapid recovery. The correct approach and precise surgical technique are the key points for this operation.

Adult ; Diskectomy ; methods ; Endoscopy ; Female ; Follow-Up Studies ; Humans ; Intervertebral Disc Displacement ; surgery ; Lumbar Vertebrae ; surgery ; Male ; Microsurgery ; Middle Aged ; Treatment Outcome