Objective To detect genetic causes of seizures and developmental retardation in 60 patients with abnormal head magnetic resonance imaging(MRI) ,and to analyze the clinical manifestations and head MRI manifestations in carriers of arylsulfatase A (ARSA) gene mutation.Methods The blood samples of children and genomic DNA were collected.Sixty cases of children with suspected metachromatic leukodystrophy were tested (MLD) by using the second generation sequencing technology.The genotype and phenotype and head MRI findings were analyzed.Results Of the 60 cases of children, 15 cases with gene mutations.There were 7 kinds of ARSA gene mutations, and 3 of them, c.1178C ＞ G, c.1055A ＞ G and c.883 G ＞ A were pathogenic.The others were single nucleotide polymorphism(SNP), which had no relationship with this disease.One of the patients carried only SNP, and 14 of them were carrying pathogenic mutation, c.1055A ＞ G (53.33％) ,c.1178C ＞ G (40.00％) were more common,and c.1055A ＞ G mutation was in 8 cases, of which 5 cases were late-onset type.One case of the 3 patients who were late infantile type was carrying c.1178C ＞ G mutation at the same time.All the eight cases had retardation.One case had hydrocephalus, and 5 cases had epilepsy.All of the 6 patients with c.1178C ＞ G were late-infantile type, and had retardation, including 4 cases of epilepsy, c.883G ＞ A mutation in 1 case,was late-infantile type,and the first symptom was binaural deafness and mental retardation.Three different types of mutations showed no significant difference in brain MRI.Conclusions There are 14 patients who were diagnosed as MLD.c.1178C ＞ G and c.883G ＞ A were late infantile type,and c.1055A ＞G was mostly late-onset type.The changes in head MRI caused by different types of ARSA gene mutations were of no significant differences in performance.

Aged ; Animals ; China ; Drugs, Chinese Herbal ; therapeutic use ; Humans ; Osteoporosis ; drug therapy ; Phytotherapy ; Stroke ; drug therapy ; Yang Deficiency ; drug therapy ; Yin Deficiency ; drug therapy

Bronchoalveolar Lavage Fluid ; Humans ; Interleukin-1beta ; metabolism ; Macrophages, Alveolar ; cytology ; drug effects ; metabolism ; Silicon Dioxide ; adverse effects ; Silicosis ; metabolism

Objective:To study the wound healing effects of the extracts of Shengji Huayu Fang with different solvents and demon-strate their important role in wound healing for deep second degree burn wound. Methods:Sixty Sprague-Dawley rats were randomly di-vidied into six groups(ten rats in each group): the control group (saline), the positive control group (asiaticoside group), Shengji Huayu Fang group respectively with petroleum ether, chloroform, ethyl acetate and n-butanol as the extraction solvent. The extracts of Shengji Huayu Fang with different solvents were applied in the rats with deep second degree burn wound, and the wound healing was e-valuated by the healing rate judged by naked eyes and computer image analysis, DNA cell cycle analysis using a flow cytometry, patho-logical reports and the degree of re-epithelialization studied by the other methods. Results:The mean healing time of the chloroform ex-tracts group [(15. 67 ± 1. 12)d] was much shorter than that of the control group [(22. 87 ± 1. 01)d, P<0. 01]. The hydroxyproline content and the percentage of S-phase cells in wound tissue in the chloroform extracts group was obviously higher than those in the con-trol group (P<0. 01). Conclusion:The present study indicates that topical application of chloroform extracts of Shengji Huayu Fang is beneficial to burn wound healing, and the chloroform extracts of Shengji Huayu Fang is the main bioactive fraction.

Objective To study the genomic molecular organization and genogroup of human metapneumovirus(hMPV) infected infants in Guangzhou of China. Methods Primers were designed on the basis of the genomic sequence of hMPV 00-1 strain(AF371337) in the GenBank, and amplify hMPV genomeby RT-PCR. The PCR-products were cloned to T vector and sequenced, the genomic nucleotide sequences were analyzed with the programs Clustal W/X, DNASTAR and MEGA4. 1. Results The cloned strainhMPVgz01 genome is 13 327 bp in length, the genome contains eight open reading frames in the order 3-N-P-M-F-M2-SH-G-L-5. The genomic sequences of hMPVgz01 strain are compared with those of hMPV in GenBank, revealed that the homology with hMPV group A ranges between 92%-97%, homology with group B is 81%, and with avian metapneumovirus group C is 71%, the highest homology is with BJ1887 strain of genogroup A2b. The N, F, G genes of hMPVgz01 strain are compared with those corresponding genes of hMPV subgroups A1, A2, B1, B2, revealed that the highest homology is also with genogroup A2b. Conclusion The complete nucleotide sequence of hMPVgz01 strain isolated from Guangzhou in China is 13 327 bp in length, GenBank accession No. is GQ153651. Comparison of the genomic sequence and three genes of hMPVgz01 strain with those corresponding sequences of hMPV show the highest homology is with genogroup A2b. Sequence and phylogenetic analysis of the hMPVgz01 strain revegled that this isolate belongs to genogroupA2b.

OBJECTIVETo study possible mechanisms of Shangjuxu (ST37) and the large intestine.

METHODSTotally 40 SD rats were selected. The distension of end colon was used as injured afferent stimulus. Activities of locus coeruleus (LC) neurons were recorded by extracellular microelectrode technique. Shangjuxu (ST37) and Hegu (L14) were needled to observe general features of discharge reactions, distention of colon induced discharge reactions of LC, and its effects on distention of colon induced discharge reactions of LC.

RESULTSDistention of colon could induce incrased discharge of LC neurons by 127.33% ± 45.48%. But needling at Shangjuxu (ST37) and Hegu (L14) could inhibit this injured response by 38.24% ± 7.69% and 21.29% ± 13.16% respectively (all P < 0.01).

CONCLUSIONSNeedling at Shangjuxu (ST37) and afferent signals of colon distension converged and interacted with each other. Needling at Shangjuxu (ST37) could significantly inhibit colon distension induced discharge of LC neurons, which might be one of mechanisms for Shangjuxu (ST37) and the large intestine relationship.

Acupuncture Therapy ; Animals ; Colon ; Intestine, Large ; Locus Coeruleus ; physiology ; Neurons ; Rats ; Rats, Sprague-Dawley

Objective To analyze the relationship between the genetic polymorphisms of uridinediphosphate glucuronosyltransferase 1A9 (UGT1A9) and mycophenolic acid (MPA)pharmacokinetics in Chinese kidney recipients.Methods Gene mutations (C-440T/T-331C,C-2152T,T-275A,T98C) were detected in 196 recipients by PCR-LDR.On the 28th day after transplantation,the plasma samples which were obtained at the time points of predose,0.5 h and 2 h after administration were measured by an immunoassay method (Emit Mycophenolic Acid Assay,Dade Behring).MPA-AUC0-12 was calculated based on these three data.Correlation between single nucleotide polymorphisms (SNPs) and MPA pharmacokinetics was analyzed.Results C-2152T,T-275A and T98C genotypes of UGT1A9 were not found in 196 recipients.The frequency of C-440T/T-331C gene mutation was 14.29% (28/196).The mean value of MPA-AUC0-12 was 40.6±11.8 wild genotype,respectively (P＞0.05).Conclusion C-2152T,T-275A and T98C genotypes of UGT1A9 are scarce in Chinese kidney recipients.In this study,there is no distinct relationship between -440/-331 SNPs and MPA pharmacokinetics in Chinese allograft recipients.

OBJECTIVETo understand physical and mental health status of middle-aged intellectuals and related risk factors on mental health under the present social conditions.

METHODSStratified-cluster sampling and questionnaire survey were used. One thousand five hundred and three middle-aged intellectuals were investigated by SCL-90 test and influential reasons, using general relative risk model. Effects and interaction modes of risk factors were analyzed.

RESULTSThe prevalence rate of middle-aged intellectuals was 241.5 per thousand per two weeks, while the prevalence rate of chronic disease was 306.7 per thousand. 6.9% of the middle-aged intellectuals (male 6.1%, female 7.8%) had mental health problems. Results suggested that the major risk factors were, as listed in a order of their effects on mental health disorders: divorced or losing spouse, exposure to poison and noisiness, lack of hobbies, long working hours, having chronic diseases.

CONCLUSIONPhysical and mental health status of middle-aged intellectuals were under by many kinds of pressures. Multiple measures should be taken to improve the health status of the middle-aged intellectuals.

Adult ; Chronic Disease ; Female ; Health Status ; Humans ; Male ; Mental Health ; Middle Aged ; Multivariate Analysis ; Risk Factors

Objective To investigate the inhibition of metformin on corneal neovascularization in rats following alkali burn.Methods Totally 48 SD rats (48 eyes)were randomly divided into three groups,and they were negative control group (n =6),in which the controls were left untreated,normal saline group(n =21),rats treated with intraperitoneal injection of equivalent saline,and metformin group (n =21),rats subjected to intraperitoneal injection of 120 mg · kg-1 metformin every day.The expression of vascular endothelial growth factor (VEGF),VEGF receptors (Flk1,Flt1) and thrombospondin 1 (TSP1) protein in corneal tissue were detected by Western blot,while RT-PCR was used to detect the expression of VEGF,Flk1,Flt1 and TSP1 mRNA in corneal tissue.Then the morphological structure of cornea was observed by HE staining.Resuits The area of neovascularization in metformin group was smaller than that of the normal saline group on day 5,7,14 after administration (all P ＜0.01).And there was interaction in the both groups with different treatment methods at different time points (F=147.32,P =0.000).The expression of Flk-1 protein in the metformin group was lower than that of the normal saline group,whereas the relative expression of TSP-1 protein was higher than that of the normal saline group (all P ＜ 0.01).The expression of VEGF,Flk-1 and Flt-1 mRNA in the metformin group was lower than those of the normal saline group,but the expression of TSP-1 mRNA was higher than that of the normal saline group (all P ＜0.01).HE staining showed that the degree of corneal edema,the inflammatory response and the number of new blood vessels in the metformin group were significantly alleviated compared with normal saline group.Conclusion Metformin can inhibit the progress of corneal neovascularization in SD rats.

Objective To study the possibility of medication treatment in Alport′s syndrome(AS).Methods Two boys with AS,received cyclosporin A(CyA) in combination with angiotensin-converting enzyme inhibitor(ACEI) or only ACEI,which lasted 22 months and 20 months,respectively.Results After the treatments with the medication,there was obvious effectiveness in the 2 patients with relieved symptom and almost normal serum standard,especially the permanent and obvious recession of proteinuria.There was no side effects of medication during the treatment.Conclusion Patients with AS can be treated with CyA and ACEI,with symptomatic recession,as well as suspend the progression of pathology of kidney.