Objective To observe the clinical, neuropathogical, neurophysiological characteristics of Charcot-Marie-Tooth disease, type 1A (CMT1A) which was similar to chronic inflammatory demyelinating polyradiculoneuropathy(CIDP).Methods The clinical data, neuroelectrophysiological changes and pathological features of sural nerve biopsy were taken from 2 CMT1A patients who were proven to be 17p12 duplication with CIDP features, and analyzed comprehensively. Results Two CMT1A cases with classical chronic course showed both subacute course and clinical manifestations similar to CIDP, however, the changes of neuroelectrophysiology and pathological characteristics of the nerve biopsy in 2 cases were different from CIDP in some way. We confirmed the chronic inflammatory demyelinating type of the CMT1A patients whom the immunotherapy was effective on.Conclusion The classical CMT1A 17p12 duplication patients who obtained immunotherapy effects might resemble CIDP both in clinical course and manifestation.

Objective To explore the effects of BSA on hypoxia inducible factor/hypoxia response element (HIF/HRE) transcription activity in rat tubular epithelial cells (NRK-52E) with HRE-Luc reporter plasmid.Methods Luciferin activity of NRK-52E cells incubated by a medium contained BSA in varying concentration (0,5,10,20 mg/ml) and stimulus duration (24,48,72 h) was detected by dual luciferase detecting system based on HRE-Luc reporter plasmid and HIF-1 α expression was detected by Western blotting.Results HIF/HRE transcription activity of NRK-52E cells was increased in BSA incubation group (10 mg/ml,48 h) compared with blank control (BSA 0 mg/ml,48 h) [(2.59±0.35)vs (1.03±0.09),P=0.000].HIF-1α expression of NRK-52E cells was increased in BSA incubation group (20 mg/ml,48 h) compared with blank control (BSA 0 mg/ml,24 h) [(0.052±0.010) vs (0.014±0.003),P=0.000].Conclusion Albumin can increase HIF/HRE transcription activity of TEC.

Objective To retrospectively analyze 45 cases of oral and maxillofacial malignant tumors and to assess the efficacy and feasibility of oral and maxillofacial malignant tumors implanted with 125I radioactive seeds under guidance of ultrasound.Methods A total of 47 focuses in these 45 patients were determined with the size of these tumors by imaging study,the section was planed by ultrasound,the number and distribution of radioactive seeds were determined with the help of the particle treatment planning system,and were percutaneously implanted particles under guidance of ultrasound.The number and the distribution of particles were assessed by CT.Efficacy endpoints were reexamined and evaluated regularly by ultrasonic and CT according to the standards of WHO.Results The total percentage of efficacy was 70.2% (including complete remission,partial remission).The treatment effect of metastatic carcinoma of lymph node is superior to the parotid tumor.There was no serious complication during the period of implanting and 2 patients with oral ulcers were found after operation.Conclusion The oral and maxillofacial malignant tumor treated implanted with 125I radioactive seeds under guidance of ultrasound is very effective and safe,which is deserved to popularize.The ultrasound is the first choice as a guided method for oral and maxillofacial malignant tumors.

Objective To explore the related diseases,main causes and clinical features of children with basal ganglia calcification(BGC).Methods Thirty cases with BGC detected by CT were studied retorspectively,and its clinical symptoms and image were summarized.Results Many factors and diseases were related to BGC,such as hypothyroidism,intrauterine infection,intrauterine hypoxia,epilepsy,posttraumatic cerebral lacunar infarction.Main clinical manifestations of BGC in children were twich,mental retardation,disorders of limb movements etc.The CT scan showed localized punctuate calcification in basal ganglia.Conclusions The main causes of BGC in children are hypothyroidism,intrauterine infection and intrauterine hypoxia,and the clinical manifestations are diverse.For children with CT-detected BGC should diagnose its causes;and for unknown causes cases should strengthen follow-up.

Adolescent ; Cord Blood Stem Cell Transplantation ; adverse effects ; Humans ; Hypertensive Encephalopathy ; etiology ; Male ; Transplantation, Homologous

Objective To assess the value of 11 C-methionine (MET) PET/CT for the diagnosis of residual or recurrent glioma in comparison to 18 F-FDG PET/CT. Methods Forty-six patients suspected of residual or recurrent glioma underwent both 11 C-MET and 18 F-FDG PET/CT within 5-day interval. The glioma was considered as positive on PET/CT images based on ( 1 ) visual judgment of higher tracer uptake compared with the normal gray matter; (2) semiquantitative analysis of tumor to contralateral normal gray matter (T/G) and contralateral normal white matter (T/W) ratios. The diagnosis was confirmed by stereotsctic biopsy or radiological findings of MRI or CT and clinical follow-up ( ＞6 months). The Chi-square test and paired t test were used for statistical analysis. Results Residual or recurrent glioma was confirmed in 36 patients. The sensitivity, specificity, accuracy of 11C-MET and 18F-FDG PET/CT were 94.4% (34/36) vs 47.2% (17/36), 90.0% (9/10) vs 100% (10/10), 93.5% (43/46) va 58.7% (27/46) (x2 =19. 429, 1. 053, 15. 294, P ＜0.001, ＞0.05, ＜0.001 ), respectively. The T/G and T/W ratios of residual/recurrent giloma by 11 C-MET were significantly higher than those by 18 F-FDG (T/G ratio: 1.68 ± 0.23 vs 1.13 ±0.51, t = 5. 877, P ＜ 0. 001; T/W ratio: 2.52 ± 0.28 vs 1.42 ± 0. 57, t = 10. 470, P ＜0. 001 ). Conclusion 11 C-MET PET/CT is more sensitive and accurate than 18 F-FDG PET/CT for the detection of residual or recurrent glioma.

Objective To investigate the clinical features and electron transfer flavoprotein dehydrogenase (ETFDH) gene mutations in 35 Chinese patients with lipid storage myopathy. Methods The clinical data of 35 cases with lipid storage myopathy confirmed by muscle biopsy were collected. The sequences of all 13 exons of ETFDH were analyzed. Results All 35 patients showed proximal weakness. Ten of them demonstrated masseter weakness and 28 of them showed weakness in neck flexion. Twenty-nine of 32 patients who were followed up showed improvement after treatment with VitB2 and CoQ10. Mutations of ETFDH were found in 30 of 35 patients,which included 8 homozygosises,20 compound heterozygosises and 2 single heterozygosises. Fourteen novel mutations were found, including 9 missense mutations ( c. 3G > C, c. 152G>A, c. 191G > A, c.349G>C, c.433G>C, c. 949C > A, c. 1454C > G, c. 1744A >T and c. 1763A>G), 1 nonsense mutation(c. 172G>T), 2 deletions(c. 1282_1283del and 1773_1774del) and 2 splice mutations (c. 405 + 1G > T and c. 1691 -3C > G). Nine of them showed c. 250G > A mutation and 6 of them showed c. 770A > G mutation. Conclusions Lipid storage myopathy is presented as proximal weakness. Multiple acyl-CoA dehydrogenase deficiency caused by mutations of ETFDH is the major cause of lipid storage disease in this group. ETFDH c. 250G > A and c. 770A > G mutations show a high frequency.

AIMTo establish the method of HPLC-fingerprint analysis for the quality control of Dalbergia odorifera and identify its main constituents by HPLC-MS.

METHODSThe 37 hatches of samples were analyzed on a Phenomenex Luna C18 column with a gradient of acetonitrile and 0.3% aqueous acetic acid at a flow rate of 1.0 mL x min(-1) and detected at 275 nm. Furthermore, the typical samples were detected by HPLC-DAD-MS under negative ion mode.

RESULTS37 batches of D. odorifera samples were classified into three types based on the results of similarity analysis. According to the comparison of the tR, MS data and UV maximum absorbance (gamma(max)) values with the standards, 10, 7 and 2 phenolic components were identified in three types of D. odorifera extracts, separately.

CONCLUSIONThe method is repeatable and reliable, and it is capable of effectively controlling the quality of D. odorifera.

Benzopyrans ; chemistry ; isolation & purification ; China ; Chromatography, High Pressure Liquid ; methods ; Chromones ; chemistry ; isolation & purification ; Dalbergia ; chemistry ; Flavanones ; isolation & purification ; Isoflavones ; Molecular Structure ; Plants, Medicinal ; chemistry ; Quality Control ; Reproducibility of Results ; Spectrometry, Mass, Electrospray Ionization

In this paper, Fourier transform infrared spectroscopy fingerprint analysis of Marsdenia tenacissima samples was used to develop a reliable method of tracing the geographical origins. Forty-eight samples from four provinces of China were analyzed by FTIR. We analyzed and characterized the fingerprints in both the full spectrum peaks and characteristic peaks, then the principal component analysis and the cluster analysis were carried out. The results of fingerprint analysis, correlation analysis, principal component analysis and cluster analysis can identify the geographic origins correctly, which verified and supplemented each other; the identification results and the actual location showed a high degree of consistency, namely the lower the space distance, the greater the similarity of different samples. These results revealed the obvious superiority and practical value in comparison to the more tedious and time-consuming wet chemistry method normally used. Using appropriate metrology methods can trace the geographical source correctly. The M. tenacissima materials from the region of Maguan should be considered as genuine medicinal materials taking into account the good quality.
China ; Cluster Analysis ; Drugs, Chinese Herbal ; analysis ; classification ; standards ; Geography ; Marsdenia ; chemistry ; classification ; Medicine, Chinese Traditional ; Principal Component Analysis ; Quality Control ; Reproducibility of Results ; Spectroscopy, Fourier Transform Infrared ; methods

In order to explore the dormancy physiological and biochemical mechanism of Paris seeds, the seed embryo growth courses, and the dynamic change of 5 enzymes, include SOD, POD, CAT, MDH, G-6-PDH were measured during variable temperature stratification. The results indicated that Paris seeds embryo grew quickly after 40 d in warm-stratification (18 ± 1) °C, at the meantime the metabolic activity was significantly strengthened. These facts showed that Paris seeds turned into physiological after-ripening process. After 60-80 d, the morphological embryo after-ripping process basically completed, and the following cold-stratification (4 ± 1) °C furthered Paris seed to finish physiological after-ripening. After 40 d, the activity of MDH decreased while G-6-PDH increased significantly. This showed that the main respiratory pathway of seed changed from TCA to PPP, which benifited breaking seed dormancy. In the whole period of stratification process, the activity variation of SOD and CAT was insignificantly and the activity of POD was enhanced significantly after shifting the seed in cold stratification process. This showed that SOD, CAT had no direct effects on breaking Paris seed dormancy but keeping the seed vigor, while the POD might involve in the process of Paris seed dormancy breaking.
Germination ; Liliaceae ; chemistry ; embryology ; enzymology ; Plant Proteins ; metabolism ; Seeds ; chemistry ; enzymology ; growth & development ; Temperature