The Wiskott-Aldrich syndrome(WAS)is a rare X-linked recessive immunodeficiency disorder characterized by thrombocytopenia and small platelets,eczema,recurrent infections,and increased risk for autoimmunity and malignancy.The gene responsible for this syndrome is WAS protein(WASP)gene.Six mutational hotspots have been identified now.Flow cytometric analysis of the WASP expression in lymphocytes is simple,rapid,and applicable for screening of WAS.WASP gene sequencing analysis can confirm the diagnosis.Hemato-poietic stem cell transplantation(HSCT)is the mainstay of treatment for WAS.So far more than 40 WAS patients have been diagnosed in China.Due to the few reports and varied clinical manifestations,WAS is often misdiagnosed as idiopathic thrombocytopenic purpura.This review will focus on recent progress in understanding the clinical presentations associated with mutations of the WASP gene,the genotype-phenotype correlation and management of this lethal disease.

Humans ; Mutation ; Wiskott-Aldrich Syndrome ; genetics ; Wiskott-Aldrich Syndrome Protein ; genetics

Background Proliferative vitreoretinopathy(PVR) is a tissue repair prevention and treatment of PVR in clinic.Natural delayed release microballoons are therefore becoming a hot spot for its easy manipulation,large lading dose and long acting duration.Objective This study was to evaluate the effect of 5-fluorouracil natural delayed release microballoons on the prevention of PVR.Methods The lymphocytes were collected from clean pigment rabbit to prepare the 8×107/ml cell suspension with complete culture fluid.PVR models were established in 45 healthy pigment rabbits by intravitreal injection of lymphocyte suspension.The animals were randomly divided into 3 groups and 15 rabbits for each.0.1ml normal saline,10g/L or 20g/L 5-fluorouracil natural delayed release microballoons were injected into vitreous cavity respectively.PVR was graded on Fastenberg's method under the slit lamp in 1,2,4,8 weeks.The animals were sacrificed and retinas were obtained for the histopathological and ultrastructural examination in the eighth week after administration of drug.Results The numbers of eyes with different grades of PVR were significantly different among 3 groups in 1 week,2,4,8 weeks(P＜0.05).The eye numbers with PVR was significant less in 20g/L Fu group than those of 10g/L Fu group and normal saline group(P＜0.05).There was statistical difference in PVR ranking among these 3 groups in 8 weeks after injection of drug(H=46.795,P＜0.05).The morphology and ultrastructure of retinas under the light microscope and transmission electron microscope were near normal in all of the three groups.Conclusion Implantation of 5-fluorouracil natural delayed release microballoons into vitreous cavity is effective and safe in preventing PVR in experimental model,and the therapeutic effect of microballoons with 20g/L 5-Fu is better.

Objective To investigate the effect of PBL combined with EBM applied in the teaching of fever of unknown origin. Methods PBL combined with EBM teaching was applied in fever of unknown origin course for 30 clinical medicine specialty(eight years) students of Tongji class of grade 2009(experiment group), while PBL teaching was applied in fever of unknown origin course for 30 clinical medicine specialty (eight years) students of Tongji class of grade 2008 (control group). After teaching, the theory examination for both basic knowledge and case analysis was organized for all students of both groups. At the same time the questionnaire survey was conducted to 30 students of grade 2009 to evaluate the teaching effect. The results were assessed by using SPSS 18.0 statistical software for the T-test of the experimental group and the control group.Inspection level was α=0.05. Results The theory test score of students in the experimental group was (93.5±3.2) point, signifi-cantly higher than that of the students in the control group(84.7±2.8). There was statistically signifi-cant difference between the scores of the two groups of students (P=0.00). Survey results showed 19 students ( 63 . 33%) thought that the development of PBL teaching combined with evidence-based medicine teaching had its necessity, and 16 students(53.33%) thought that the teaching method im-proved their clinical thinking ability of logical reasoning. Conclusion The concept of PBL combined with EBM has achieved significant resultsinthe teaching offever of unknown origin, and it is necessary to carry out this teaching mode in medical colleges with certain teaching strength.

To give the considerations on the syndrome differentiation and acupuncture treatment of diabetic peripheral neuropathy, generalize its pathogenesis and summarize treatment rules, this paper reviews and analyzed 52 articles on acupuncture treatment in recent years. It is believed that diabetic peripheral neuropathy is rooted from qi-yin deficiency and presented with blood stasis and collateral obstruction; many organs are affected, the liver, kidney,spleen and stomach in particular; the treatment principle concentrates on unblocking collaterals and regulating organs; treatment centers on limb acupoints, Back-Shu point and Front-Mu point;acupuncture treatment should be adopted early as possible and its clinical efficacy is rather good.

Adolescent ; Female ; Humans ; Premenstrual Syndrome ; etiology ; physiopathology ; therapy

Child ; Chondrosarcoma, Mesenchymal ; diagnosis ; drug therapy ; pathology ; Diagnosis, Differential ; Humans ; Male ; Pelvic Neoplasms ; diagnosis ; drug therapy ; pathology ; Tomography, X-Ray Computed ; Treatment Outcome

Background To establish the ideal animal model of retinitis pigmentosa (RP) is very important for onward relevant study.Previous research determined that N-methyl-N-nitrosourea (MNU) can selectively damage photoreceptors via intravenous injection in mammal.However,whether MNU can be used to create an RP model needs to be investigated.Objective This experiment was designed to evaluate the toxic effect of MNU on photoreceptor cells of cats.Methods MNU was injected into 20 2-year-old cats via femoral vein and randomized into 20mg/kg, 25mg/kg, 30mg/kg, 35mg/kg and 40mg/kg MNU groups,and equal amount of normal saline solution was used in the same way in 4 normal cats as the control group.The activity,pupil size and light reflex were observed after injection of MNU.The cats were sacrificed and eyeballs were enucleated for histological examination to evaluate the structural and morphological changes of photoreceptors at 24 hours,72 hours,7 days and 14 days after the administration of MNU.This experimental study complied with the Statement for the Use of Animals in Ophthalmic and Vision Research.Results Dilated pupil and inertia of light reaction were found in experimental cats on the 7th days in the various groups.In 24 hours after MNU injection,the damage of photoreceptors was primarily characterized by pyknosis and disorder.In 72 hours after MNU injection,attenuation of the outer nuclear layer and disruption of cells were seen.Loss of photoreceptors and disappearance of the outer nuclear layer were observed on the 7th and 14th day.The extent of retinal photoreceptor cell damage was dependent on the dose of MNU.Conclusion MNU can selectively induce serious damage of the photoreceptor cells in cats retina in a time- and dose-dependent manner.

The conventional therapy for arteriosclerosis obliterans (ASO) is Western medicine. However, it has some adverse effects and does not respond to some patients, and it is also very expensive.

Orally disintegrating tablets (ODT), a kind of new solid tablet that rapidly disintegrates to work in the mouth, has became the hot form of new drug research in recent years with many advantages, such as the convenient taking, a widely applicable people, fast acting, high bioavailability, good compliance, and so on. ODT has been widely used in chemical medicines, while the application of it in traditional Chinese medicines (TCMs) is still in the stage of development The development of TCMs ODT provides a new direction for the research of Chinese medicine new dosage, accelerates the pace of connecting to the world and modernization of Chinese medicine. This dosage has a broad market prospect, and its quality control and assessment standards, taste, the disintegration time in vitro and evaluation method are the key factors that affect the industrialization, standardization of Chinese medicine ODT. Therefore, this paper reviewed the characteristics, preparation, taste masking technology and quality evaluation with new technology of ODT. Meantime, numerous application examples of ODT used in traditional Chinese medicine were described. We expect to provide the reference and utilization for the development of traditional Chinese medicine orally disinteeratine tablets.
Administration, Oral ; Drug Compounding ; methods ; Humans ; Medicine, Chinese Traditional ; Solubility ; Tablets ; administration & dosage ; chemistry ; Taste