ObjectiveTo explore the clinical presentation, diagnosis, treatment, and outcome of the Barth syndrome (BTHS).MethodsClinical data were collected and analyzed from 3 patients with conifrmed genetic diagnosis of BTHS from June 2013 to October 2014.ResultsAll of the 3 patients were males and two of them were twins. The main clinical manifes-tations of the 3 patients were cardiomyopathy and heart failure, accompanied by different degrees of trabeculations of the left ventricle. Two of them were diagnosed of left ventricular noncompaction (LVNC). All of the 3 patients presented with motor retardation, muscle weakness, growth delay and signiifcantly increased urinary excretion of 3-methylglutaconic acid (3-MGC). One patient was found to have neutropenia. All 3 patients hadTAZ gene mutations which included a novel missense mutation (c.527A>G, p.H176R) detected in the twins and a known nonsense mutation (c.367C>T, p.R123X) identiifed in the other patient. All of the mutations were inherited from their mothers. During the follow-up, the twins died at 7 months old and 7.5 months old respectively. The other patient was still alive.ConclusionBTHS is one of the causes of cardiomyopathy in children. In the male patients who presented with muscle weakness, neutropenia, and increased urinary excretion of 3-MGC, especially in those com-bined with LVNC, BTHS should be screened.

AIM:To discuss the technique for preparing high-purity solanesol from tobacco. METHODS:The pre-treated tobacco leaves were extracted with mixed solvent of petroleum ether and ethanol,and saponified to obtain solanesol extract; The solanesol extract got through redissolution and dewaxing,then crystallized in the temperatare of -18 ℃; Finally purified by macroporous resin(YPR-Ⅱ,D-1300,HZ-816,HZ-802). RESULTS:The ratio of mixed solvent of petroleum ether and ethanol was 1 ∶ 4,ratio of liquid to materials was 1 ∶ 12,solanesol purity was about 32% after saponification,then crystallization made the purity up to 63. 4% ,finally purified through macroporous resin,the solanesol purity reached above 93. 6%. CONCLUSION:Through the general solvent extraction,saponification,crystallization and macroporous resin adsorption process,the solanesol purity of the product reaches higher than commonly expected values.

Objective To evaluate the role of 5-HT5A receptors (5-HT5A R) in activation of astroglia in the spinal dorsal horn in a rat model of neuropathic pain induced by vincristine. Methods Forty adult male SD rats weighing 180-200 g were randomly divided into 4 groups ( n = 10 each): control group (group C);neuropathic pain group (group P);Ad-X-HK group (group B) and Ad-5-HT5A-siRNA group (group S). Neuropathic pain was induced by repeated intraperitoneal (IP) injection of vincristine 0.1 mg/kg according to the method described by Weng et al in group P, B and S. On the 2nd day after the last IP injection, the animals received artificial cerebrospinal fluid, Ad-X-HK and Ad-5-HT5A-siRNA 25 μl administered intrathecally (IT) in group P, B and S respectively. Paw withdrawal threshold to mechanical stimulus was measured before and on the 7th day after IT administration. The animals were then sacrificed. The lumbar segment ( L4.5 ) of the spinal cord was removed for determination of 5-HT5A R and GFAP expression. Results Body weight and paw withdrawal threshold were significantly decreased after repeated IP vincristine administration in group P compared with group C. IT Ad-5-HT5A-siRNA reduced pain threshold further in group S compared with group P. Repeated IP vincristine significantly increased the expression of 5-HT5A R and GFAP in spinal dorsal horn, and IT Ad-5-HT5A-siRNA significantly decreased the expression of 5-HT5A R while increased the expression of GFAP in spinal dorsal horn in group S compared with group P. Conclusion 5-HT5AR is involved in the inhibition of astrocyte activation, resulting in reduction of vincristineinduced neuropathic pain.

China ; Ethnic Groups ; genetics ; Female ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Receptors, Complement ; genetics

OBJECTIVEWe aim to evaluate the cytotoxicity and antibacterial effects of Silagum-Comfort (SLC) silicone-based soft liner varnish containing Ag/TiO2 in vitro.

METHODSSilicone-based liner circular specimens, with a diameter of 10 mm and a thickness of 2 mm, were created and divided into six groups randomly. Ag/TiO2 was incorporated into the SLC varnish based on the agent/material weight rate of 0, 0.5%, 1.0%, 1.5%, 2.0%, and 2.5%. The mixed varnish was used to polish the SLC specimens. Antibacterial specimens (ATSLC) were created. Methyl thiazolyl diphenyl-tetrazolium bromide assay method was used to evaluate the 3T3 cell cytotoxicity of ATSLC in vitro. Surface roughness (Ra) measurements of ATSLC were obtained. The antibacterial effect of ATSLC on Candida albicans was examined using the pelliclesticking method.

RESULTSThe cytotoxicity of ATSLC was graded from 0 to 2. The Ra of ATSLC increased when Ag/TiO2 agent concentration increased. However, the differences were not statistically significant compared with the 0 group. With increasing Ag/TiO2 concentration, the antibacterial agent concentration and the antibacterial rate of ATSLC also increased. When the Ag/TiO2 antibacterial agent concentration reached 2.0% and 2.5%, the antibacterial rate increased to 97.5% and 96.5, respectively.

CONCLUSIONVarnish containing Ag/TiO2 has excellent antibacterial effect and can significantly improve the antibacterial effect of silicone-based soft liner.

Adult ; Axilla ; Cell Transformation, Neoplastic ; pathology ; Diagnosis, Differential ; Epithelioid Cells ; metabolism ; pathology ; Fibrosarcoma ; metabolism ; pathology ; Humans ; Male ; Neurilemmoma ; metabolism ; pathology ; surgery ; Neuroblastoma ; metabolism ; pathology ; S100 Proteins ; metabolism ; Soft Tissue Neoplasms ; metabolism ; pathology ; surgery ; Vimentin ; metabolism

Objective To study the clinical features and gene mutation of congenital hyperinsulinism (CHI). Methods Clinical data of one newborn infant with CHI were retrospectively analyzed, and relevant literatures were reviewed. Results The infant was admitted at 24 days after birth due to recurrent hypoglycemia. Genetic examination revealed the single heterozygous mutation on ABCC8, which conifrmed the diagnosis of CHI. Experimental treatment of Diazoxide was effective. The blood glucose was normal in the follow up. Conclusions The improvement of genetic testing at the soonest can not only helps early diagnosis of CHI, but also guides the long-term clinical management of CHI.

Objective To investigate the incidence and related risk factors of female stress urinary incontinence(SUI) in a county of Chengdu. Methods The women were interviewed with questionnaires,which were designed to the modified standard of the Advisory Committee of Urinary Incontinence of Asia-pacific Region. Results The total number of the women investigated was 563,while the number of the valid questionnaires was 512,with the efficient rate 98.5%.Of these women,46.1%(236/512) had urinary incontinence,21.9%(112/512) had simplex SUI,4.7%(24/512) had simplex urgent urinary incontinence and 19.5%(100/512) had complex urinary incontinence.The incidence of SUI(simplex SUI plus complex urinary incontinence) was 41.4%(212/512).The incidence of SUI was associated with factors such as age,pregnancies,drinking and education level,and the severity was associated with age,body mass index and education level.Conclusion The incidence of SUI in this county of Chengdu is relatively higher.Heath education is very important for the female health.

Ginsenosides,which belongs to triterpenoid saponins of plant terpenoids,are the main active components of the valuable medicinal herbs ginseng and American ginseng.Recent studies show that ginsenosides have a variety of beneficial effects,including anti-inflamatory,antioxidant,and anticancer effects.Ginsenosides are synthesized by complicated modification of triterpenoid skeleton after cyclization of 2,3-oxidosqualene through triterpene saponin synthesis pathway in which they share common early steps with phytosterols synthesis.It outlines recent advances for the biosynthesis of ginsenosides,the cloning and characterization of genes encoding key enzymes in the pathway and the basal framework of ginsenosides biosynthesis pathway.The prospects of secondary metabolism engineering in the biosynthesis of plant natural products and its application in ginsenosides biosynthesis are also discussed.

The transcription factor Oct-4 is expressed specifically in mammalian preimplantation embryos and its function is related to the maintenance of embryonic stem cell pluripotency. The functional role of the heterogenous expression of Oct-4 remains unclear however. A GFP reporter construct, pOct-4(p)-GFP was generated, containing the upstream regulatory regions of bovine Oct-4 gene and its expression pattern was evaluated in the developing embryos of mouse, pig and rabbit following intracytoplasmic sperm injection. GFP fluorescence was visible early at the 2-cell stage and then became stronger in the blastocysts of all three species. However, the distribution of the GFP signals was restricted to the cells of inner cell mass and no fluorescence was detectable in trophectoderm cells. These results suggest that the bovine Oct-4 promoter is functional and that its embryonic expression activity is similar in different mammalian species.