Objective To explore the therapeutic effects and dose of Topiramate(TPM)in children with Tourette syndrome(TS).Me-thods Seventy-nine children with TS were given oral TPM,which were treated with Topiramate [0.5-3.0 mg/(kg?d),twice a day].The therapeutic effects were assessed using Yale Global Tic Severity Scale(YGTSS)before and 3 months after treatment and the side-effects of the drugs were observed.Results The differences of YGTSS scores before and after treatment,motertic score(19.63?3.09 vs 5.05?1.74),vocaltic score[(18.95?2.56)vs(4.82?1.94)],global scole score[(24.21?5.89)vs(10.42?3.69)],severity score[(62.21?5.81)vs(22.26?4.81)],there were significant differences of every score of YGTSS between before and after treatment(Pa

Recent studies show that long exposure to high altitude and hypoxia can seriously affect men's reproductive health by reducing their sperm concentration, which decreases with the increase of altitude. High altitude and hypoxia are strongly associated with spermatogenic reduction, sperm DNA damage, sperm apoptosis, and decreased level of sex hormones. This article reviews the mechanisms of high altitude and hypoxia affecting sperm concentration.
Altitude ; Humans ; Hypoxia ; Male ; Sperm Count ; Spermatogenesis ; Spermatozoa ; physiology

Objective To optimize the short tandem repeats(STR)which link closely to survival motor neuron(SMN)and have redundant polymorphism information contents,and to use these STR in the prenatal diagnosis of spinal muscular atrophy(SMA).Methods Eleven STR loci(D5S435,D5F153, DSF151,D5S637,D5S1413,D5S125,D5S464,D5S1556,DSF149,D5S351,MAP1B-5')were amplified by PCR.Then the PCR products were detected by polyacrylamide gel electrophoresis(PAGE)and analyzed by silver staining.STR loci were evaluated and optimized by their PIC values.PCR-PAGE and gene scan were combined to make genetic link analysis for SMA families based on the optimized STR.Results Three STR loci(D5S435,DSF149 and D5S351)were selected with 8,19 and 18 polymorphic fragments detected respectively in 100 normal individuals.Their PIC values were 0.84,0.91 and 0.92 respectively.Four carriers and 2 normal individuals were detected from 6 SMA families with linkage analysis by using the 3 STR.Conclusion This genetic diagnosis system based on the 3 STR loci can provide rapid prenatal diagnosis for SMA families,can eliminate maternal blood contamination,and also can discriminate carriers from normal individuals in the fetuses,which makes the prenatal diagnosis system of SMA perfect.

Objective: This study aimed to determine the efficacy of a medium-chain triglyceride ketogenic diet on patients with drug-resistant epilepsy over a period of 1 year and 8 months. Methods: Patients with refractory epilepsy on a medium-chain triglyceride ketogenic diet were prospectively enrolled. Their clinical condition and the effectiveness of the ketogenic diet were followed-up every month for 1 year. Adverse events and the reasons for discontinuing the diet were recorded. Results: Fifty-three patients (27 males and 26 females) were enrolled. At the end of the study, 21 patients remained on the diet, 14 of whom were followed-up for 1 year. Among the 53 patients, 22.6% had a more than 50% reduction in seizure frequency, and 16.9% became seizure-free. Conclusions: After a 1-year follow-up, the use of a medium-chain triglyceride ketogenic diet for patients with drug-resistant epilepsy was found to be a safe and effective therapy, and may be considered to bean alternative for patients with difficult-to-control seizures in children as well as young adults.
Epilepsy

Objective To introduce an improved method for collecting the blood of rat by cardiac puncture .Methods The study se-lected 90 Wistar rats,half male and half female ,and then the rats were anesthetized by intraperitoneally injecting 10％chloral hydrate solution according to 0.3 mL/kg body weight.Then using three-line positioning method to determine the puncture site ,the blood collection needle and blood collection tube were used to collecting the blood ,Finally,the blood volume of each rat was recorded .Results The success rate was cal-culated according to the single blood collection of 5 mL or more,and our 90 rats were collected 90 times,the success rate was about 82.2％. After centrifugation,the total serum was about 260 mL,the average serum separation of each rat was about 2.8 mL.Conclusion The im-proved positioning method of heart blood collection is intuitive and easy to learn ,and the total volume and quality of blood is high ,besides ,the new method has a small surgical trauma and a high efficiency ,which is worth to extend .

OBJECTIVETo compare the intervention effects of four traditional Chinese medicines (TCMs) with typical cold or hot property on body temperature and temperature-sensitive transient receptor potential ion channel proteins (TRPs) of rats with yeast-induced fever.

METHODThe pyrexia model was induced by injecting yeast suspension subcutaneously. Totally 108 male SD rats were randomly divided into the normal group, the model group, the Rhei Radix et Rhizoma treated group, the Coptidis Rhizoma treated group, the Euodiae Fructus treated group, and the Alpiniae Officinarum Rhizoma treated group, with 18 rats in each group. At the 4 h, 8 h and 12 h after injection of yeast, the rats were sacrificed to collect their hypothalamus and dorsal root ganglion. The expressions of TRPV1 and TRPM8 were detected by immunohistochemistry and Western blot method.

RESULTCompared with the normal group, after injection of yeast, the temperature of rats in the model group notably increased, and reached the peak at 8 h (P < 0.01). The TRPV1 level in hypothalamus and dorsal root ganglia (DRG) of the model group significantly increased, whereas the TRPM8 level significantly reduced. Compared with the model group, the Rhei Radix et Rhizoma group and the Coptidis Rhizoma group showed significant decrease in the high body temperature of rats caused by yeast, down-regulation in the expression of TRPV1, and up-regulation in the expression of TRPM8 (P < 0.05 or P < 0.01). Euodiae Fructus and Alpiniae Officinarum Rhizoma had no significant effect on either temperature or TRPs of fever rats.

CONCLUSIONRhei Radix et Rhizoma and Coptidis Rhizoma, both are TCMs with cold property, can reduce the temperature of fever rats induced by yeast, which may be related to their effective regulation of TRPV1 and TRPM8 in hypothalamus and DRG, while Euodiae Fructus and Alpiniae Officinarum Rhizoma had no relevant effect.

Animals ; Antipyretics ; administration & dosage ; chemistry ; Body Temperature Regulation ; drug effects ; Drugs, Chinese Herbal ; administration & dosage ; chemistry ; Fever ; drug therapy ; immunology ; microbiology ; physiopathology ; Gene Expression Regulation ; drug effects ; Humans ; Male ; Rats ; Rats, Sprague-Dawley ; Saccharomyces cerevisiae ; immunology ; TRPM Cation Channels ; genetics ; immunology ; TRPV Cation Channels ; genetics ; immunology

Objective To prepare the survival motor neuron(SMN)polyclonal antibody and explore the localization of SMN protein in transfected cells and its expression in skeletal muscles of patients with spinal muscular atrophy(SMA).Methods A prokaryotic expressional plasmid named pET-28? (+)/SMN was constructed and SMN-His fusion protein was induced.The fusion protein was used to immunize New Zealadd rabbits to prepare SMN polyclonal antibody.A eukaryotic expressional plasmid named pcDNA3.1/myc-HisB-SMN was constructed and used to transfect CHO cells.Skeletal muscles were collected from 3 patients with bone fracture who were regarded as normal controls, and 3 SMA patients of type Ⅰ, 3 of type Ⅱ and 3 of type Ⅲ who were ascertained by genetic analysis.Western-blotting and immunofluorescence stain were applied to study the expression of SMN in transfected CHO cells and skeletal muscles of normal individuals and SMA patients.Results Correct pET-28a(+)/SMN prokaryotic expressive plasmid was constructed and SMN-His fusion protein was obtained from E coli BL21 transformed with pET-28a(+)/SMN.Then, rabbit anti-human full-length SMN polyclonal antibody of high specificity and sensitivity was obtained from rabbits immunized by SMN-His fusion protein.SMN proteins were shown diffusedly locating in the cytoplasm and nucleus of CHO cells transfected with pcDNA3.1/myc-HisB-SMN plasmid and mainly accumulating around the nucleus.The results of Western-blotting were as follows:the average ratio of SMN band density to glyceraldehyde phosphate dehydrogenase(GAPDH)band density (SMN/GAPDH)is 0.619 in skeletal muscles from normal controls, the average values of SMN/GAPDH in skeletal muscle from SMA patients of type Ⅲ and Ⅱ were 0.347 and 0.340 respectively, which were lower than that of normal controls.However, the average values of SMN/GAPDH in skeletal muscle from SMA patients of type I was only 0.079, which was quite lower than that of normal controls.Conclusions The rabbit anti-human full-length SMN polyclonal antibody is of high specificity and sensitivity, which makes the basis for the research of SMN function and SMA pathogenesis.There may be a correlation between the SMN level in skeletal muscle and the severity of disease.

OBJECTIVETo study the effects of interferon-gamma (IFN-gamma) on the adhesiveness and invasiveness of prostate cancer cells.

METHODSWe determined the effect of IFN-gamma on the adhesiveness of prostate cancer cell lines LNCaP and PC-3 by treating the plate with fibronectin and laminin, on the invasiveness of prostate cancer cells into the artificial basal membrane consisting of Matrigel and fibronectin using the Transwell chamber, and on the expression of annexin-2 in these cells by Western blot.

RESULTSThe adhesion rates of prostate cancer cell lines LNCaP and PC-3 were 21% and 23% in the IFN-gamma treatment group, significantly lower than 46% and 40% in the untreated group (P < 0.05). The invasiveness of the cells was markedly decreased in the former as compared with the latter (P < 0.05). IFN-gamma significantly inhibited the expression of annexin-2 in prostate cancer cell lines LNCaP and PC-3 (P < 0.05).

CONCLUSIONIFN-gamma can decrease the adhesiveness and invasiveness of the prostate cancer cell line by down-regulating the expression of annexin-2.

Annexin A2 ; biosynthesis ; Blotting, Western ; Cell Adhesion ; drug effects ; Cell Line, Tumor ; Cell Movement ; drug effects ; Humans ; Interferon-gamma ; pharmacology ; Male ; Neoplasm Invasiveness ; Prostatic Neoplasms ; metabolism ; pathology

OBJECTIVETo investigate the fine needle aspiration cytology (FNAC) features and differential diagnosis of eyelid sebaceous gland carcinoma.

METHODSFour cases of eyelid sebaceous gland carcinoma diagnosed by FNAC were reported and confirmed by biopsy. Three of the cases were in early stages with tumor sizes smaller than 10 mm in diameter and without metastasis. The smears were stained by routine H & E and SudanIII methods. The cytologic findings were described and compared to corresponding histological features, and moreover, compared to chalazion, pilomatrixoma and eyelid basal cell carcinoma.

RESULTSNeither hemorrhage nor infection were found after the examination. Abundant cells were observed in the sebaceous carcinoma FNAC smears. Two types of tumor cells were found: one showed tumor cells differentiating toward sebaceous gland, with large pale cells and vacuolated cytoplasm, the other demonstrated poorly-differentiated cell with dark and irregular nuclei. Numerous vacuoles with inequality of size were found in cytoplasm or in background in all four cases, and the SudanIII stain showed that these vacuoles contained lipid. Some smears demonstrated cells with basaloid, fusiform or squamous features, corresponding to various histopathological types. In contrast, smears of chalazion displayed inflammatory granuloma, containing several types of inflammatory cells without malignant cells. Smears of pilomatrixoma were cellular with three cell populations, which included bland sheets of basaloid cells, nucleated basophilic cells and anucleated keratinized "ghost cells", along with calcific debris. The smears of basal cell carcinoma were typically less cellular, more tightly cohesive and had smaller clusters of uniform hyperchromatic basaloid cells without vacuolization in cytoplasm or background. Overall, the cytological features of eyelid sebaceous carcinoma were distinct from those of chalazion, pilomatricoma and basal cell carcinoma.

CONCLUSIONSFNAC is a safe and effective approach for the diagnosis of eyelid sebaceous carcinoma and lipid stain is useful in differential diagnosis. The application of FNAC may be important in reaching an early diagnosis and initial treatment of eyelid nodule.

Adult ; Aged ; Biopsy, Needle ; Diagnosis, Differential ; Eyelid Neoplasms ; diagnosis ; pathology ; Female ; Humans ; Male ; Middle Aged ; Sebaceous Gland Neoplasms ; diagnosis ; pathology