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

Internationality ; Medicine, Chinese Traditional

Adult ; Aged ; Aged, 80 and over ; Carcinoma, Non-Small-Cell Lung ; genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Lung Neoplasms ; genetics ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Receptor, EphB4 ; genetics

Objective To observe the effects of chemo-endocrine therapy on gastric carcinoma (GC). Methods Cancerous tissues from 95 patients with primary GC were examined for the presence of estrogen receptor (ER) and progesterone receptor (PgR). Afterwards, 64 GC patients with recurrent or metastatic conditions were randomly divided into two groups: chemotherapy group and chemo-endocrine therapy group. Results A total of 34.38% ER positive and 16.30% PgR positive rates were found. For ER positive patients, the use of tamoxifen-EAP regimens was more effective than that of EAP alone (P

AIM: To observe the hemostatic effect and hemostasis mechanism of XHJ (Auena fatua L.) oral Liqnid on animals. METHODS: Bleeding time (BT) and clotting time (CT) were measured by means of tail cutting and glass slide method on mice, Von willebrand factoe (vWF), prothrombin time (PT) and Kaolin partial thromboplastin time (KPTT) were observed by immunoterbidimerry and coagulase test, antithrombin Ⅲ(AT-Ⅲ) by chromophoric matrix method platelet count by tissue plasminogen activator (tPA), plasminogen activatore inactivator (PAI). CONCLUSION: The results indicate that XHJ has remarkable effect on hemostasis; Its mechanism is related to accelerating blood coagulatlon, inhibiting fibrinolytic activity, adding blood vessel endothelial cell release and improving platelet adhesiveness and aggregation.

ObjectiveTo observe the effect of early partial body weight support on walking ability for stroke patients with hemiplegia.Methods60 stroke patients were divided into 3 groups, receiving conventional early rehabilitation: group A (20 cases) received conventional rehabilitation for 8 weeks; group B (20 cases) received 2 weeks conventional rehabilitaion and 6 weeks partial body weight support; group C (20 cases) received 5 weeks conventional rehabilitaion and 3 weeks partial body weight support. Fugl-Meyer Assessment(FMA), Barther Index(BI) and Berg Balance Scale(BBS) were used to assess the effect before and after treatment.ResultsThe socres of FMA, BI and BBS improved in walking function after the treatment(P<0.05). Comparing with groups A and C, group B improved more significantly after treatment (P<0.05), and group C was better than group A (P<0.05). ConclusionPartial body weight support can improve walking function of hemiplegic patients at early stage.

Objective To assess the reliability and validity of the effect evaluation index system for health education of coronary heart disease.Methods A total of 306 patients with coronary heart disease in four third-grade and A-level hospitals extacted by convenient sampling method were surveyed.Project analysis,exploratory factor analysis,correlation analysis and so on were applied to analyze and select items.Then the Cronbach's alpha coefficient,test-retest reliability,and content validity of the scale were tested.Then the original system was modified and the eventual system was formed.Results The scale was consisted of 8 first-dimensions and 35 indexes.The Cronbach's α of the total system was 0.832,and the α of subscales were from 0.629 to 0.882.The test-retest reliability of the total system was 0.966,and the testretest reliability of subscales were from 0.848 to 0.942.The S-CVI/Ave of system was 0.99,and the S-CVI/UA of indexes was 0.91.The Pearson correlation coefficient of the indexes with their dimensions were from 0.574 to 0.916,which were higher than the coefficient of the indexes with other dimensions.Factor analysis supported the eight-factor structure of the system,which could explain 65.61％ of the total variance and the factor loading of each index were from 0.430 to 0.938.Conclusions The system is reliable and valid,and can provide a unified reference standard for effect evaluation of health education of coronary heart disease.

Objective To establish a scientific,standard and comprehensive effect evaluation index system for health education of coronary heart disease.Methods Based on KABP (knowledge,attitude,belief,practice,KABP) model of health education,the effect evaluation index system for health education of coronary heart disease was formulated by documentary analysis,qualitative research,questionnaire survey,Delphi method,and analytic hierarchy process.Results The authoritative coefficient,determination coefficient and familiarity coefficient was 0.89,0.91,0.86,respectively.The coordination coefficients of the first-dimension and the second-dimension were 0.295 and 0.302,respectively.The index system consisted of 6 first-dimensions,45 second-dimensions.The weight coefficient of health knowledge,health belief,health behavior,physical signs,quality of life,and satisfaction degree of health education was 0.153 8,0.153 8,0.366 1,0.086 3,0.153 8,0.086 3,respectively.Conclusions The effect evaluation index system for health education of coronary heart disease is reliable and valid,which can provide a quantitative basis for effect evaluation of health education.

Objective:To investigate the value of bedside transthoracic echocardiography(TTE) in volume reactivity assessment of children with septic shock.Methods:A total of 41 children aged from 1 to 5 years with septic shock requiring mechanical ventilation admitted to PICU from January 2017 to June 2020 were prospectively included.Under the condition of complete mechanical ventilation, full sedation and analgesia, and no spontaneous breathing(tidal volume 8 to 10 mL/kg), volume expansion was given to children.Hemodynamic indexs such as cardiac index(CI), stroke volume index(SVI) and stroke volume variability(SVV) were measured before and after volume expansion by noninvasive cardiac output monitoring(NICOM) and TTE.Moreover, aortic flow velocity time integral variable degrees(ΔVTI), inferior vena cava variability(ΔIVC) and inferior vena cava dilation index(dIVC) were also measured by TTE.Patients were considered to be responsive to volume expansion if SVI NICOMincreased≥15%.Based on the responsiveness of volume expansion, all the patients were divided into response group and non-response group.The value of SVV TTE, ΔVTI, ΔIVC, dIVC, ΔCVP and SVV NICOMin predicting volume responsiveness were analysed. Results:(1) There were 23 cases in response group and 18 cases in non-response group.Before volume expansion, there were no statistically significant differences in general hemodynamic indexes HR, MAP, CVP, EF, CI NICOM, and CI TTEbetween two groups( P>0.05). (2) In response group, HR, MAP, CI, SVI and CVP were all improved after volume expansion( P<0.001). In non-response group, only CVP was significantly increased after volume expansion, while other indexes were not improved( P>0.05). (3)Before the volume expansion, SVV TTE, ΔVTI, ΔIVC, and dIVC in response group were higher than those in non-response group( P<0.001). After volume expansion, these indicators were significantly reduced in response group.In non-response group, only ΔIVC significantly reduced after volume expansion.(4) The receiver-operating characteristic curve analysis showed that the area under the curve of SVV TTEand ΔVTI was 0.971, with 12.04% as the threshold, the sensitivity was 0.957 and the specificity was 0.944. The area under the curve of ΔIVC was 0.981, with 25.98% as the threshold, the sensitivity was 0.870 and the specificity was 1.000.The area under the curve of dIVC was 0.980, with 29.86% as the threshold, the sensitivity was 0.870 and the specificity was 1.000. The area under the curve of ΔCVP was 0.778, with 2.5 cmH 2O(1 cmH 2O=0.098 kPa) as the threshold, the sensitivity was 0.913 and the specificity was 0.556. The area under the curve of SVV NICOMwas 0.874, with 12.50% as the threshold, the sensitivity was 0.869 and the specificity was 0.778. Conclusion:The dynamic indexes SVV, ΔVTI, ΔIVC and dIVC monitored by TTE have good accuracy in evaluating children′s volume responsiveness, among which the accuracy of ΔIVC and dIVC is relatively the highest; the value of ΔCVP in predicting volume responsiveness is limited.