Objective To improve the early diagnosis of Wiskott-Aldrich syndrome (WAS),through summing up and analyzing the clinical characteristics of children with WAS.Methods The clinical and laboratory characteristics of 18 children with WAS,including the cases from Suzhou Jiulong Hospital,Shanghai Jiaotong University School of Medicine,and Tongji Hospital Affiliated to Tongji University,and the domestic reports in recent 6 years,were induced and analyzed.Results All patients were males;the average of incidence age was about 1.9 months and the average age at diagnosis was 10.8 months.All cases had the clinical characteristics of WAS including eczema,infection tendency and thrombocytopenia with small platelet size.Moreover,10/18 cases (55.56％) WAS patients progressed to severe cases (scores reached to 4 or 5 points)at diagnosis,and with the increase of age of the patients at diagnosis,the ratio of severe cases would be increased.The conventional immune function indexes showed no specific diagnostic value,and the typical clinical features and the WAS gene mutation detection were the key diagnostic basis.Seven cases used to be misdiagnosed as idiopathic thrombocytopenia,and received corticosteroids and intravenous immunoglobulin therapy.In a total of 18 cases,4 cases received allogeneic hematopoietic stem cell transplantation,of which,β cases were cured and 1 case died of transplantation-related interstitial pneumonia,while the remaining 14 cases are unknown for their with follow-up treatment and prognosis.Conclusions The typical clinical features and the WAS gene mutation detection were the key diagnostic basis.In order to improve the rate of early diagnosis and avoid misdiagnosis,it's a great need to improve the clinical understanding of WAS.

Using 133Xe-inhalation technique quantitative measurements the regional cerebral blood flow (rCBF) was performed in 20 patients with unilateral ischemic lesion in one hemisphere according to cranial CT scan and in 10 normal subjects. Twenty patients had an Ultrasound Doppler examination of neck vessels half a day after rCBF examination. The results showed that rCBF in ischemic hemisphere before and during 3% CO, stimulation was lower than that in normal subjects or in non-ischemic hemisphere of the patients. It suggests that dilative responsibility to CO, in cerebral artery of stroke hemisphere is reduced. That is to say the cerebrovascular reserve capacity in stroke hemisphere was reduced too, but cerebrovascular reserve capacity in the non-stroke hemisphere and in normal subject of control group was normal. We also found cerebrovascular responsibility to CO, or cerebrovascular reserve capacity correlated with severity of clinical cerebral thrombotic illness and extent and degree of internal carotid artery obstruction. It was poor in severe illness or internal carotid obstruction and/or narrow in both sides of the patient group taken by Ultrasound Doppler examination of neck vessels.

Purpose:To investigate the relation between the expression of cyclinB1 gene and drug resistance in patient with acute leukemia. Methods:Cyclin B1 gene mRNA expression in 13 cases of drug resistant and 14 drug non-resistant acute leukemia patients’ peripheral blood have been determinated by semi-quantitative reverse transcription-polymerase chain reaction (RT-PCR).The expression of mdr1 gene mRNA in these patients was measured with fluorescence -quantitative reverse transcription-polymerase chain reaction (RT-PCR). Results:The expression of cyclin B1 mRNA in the drug resistant group was significantly higher than the drug non-resistant group cyclin B1 mRNA (P

Single photon emission computed tomography(SPECT)can be used in Parkinson desease due to the high affinity of the specific isotope with dopamine transporter(DAT).Nowadays,SPECT imaging in human brain is widely applied in clinical practice of Parkinson disease,such as early diagnosis,differential diagnosis,monitoring,outcome evaluation and prognosis.In this article,a survey is conducted on DAT SPECT imaging and its clinical application in patients with Parkinson disease.

AIM: To investigate the clinical effect and side-effects of paroxetine in the treatment of generalized anxiety (GA). 　METHODS: Ninety patients who met Chinese classification and diagnostic criteria of mental disorders, 2nd Rev Ed (CCMD-2-R) criteria for GA were randomly divided into paroxetine group of 30 patients (M 12, F 18; age 40 a±s 13 a) which was treated with paroxetine 20-40 mg, po, qd or bid, benzodiazepines group of 30 patients (M 13, F 17; age 37 a±13 a) among them, 16 patients were treated with alprazolam 0.4-0.8 mg, po, bid or tid, 14 patients were treated with clonazepam 1-2 mg, po, bid or tid and placebo group of 30 patients (M 11, F 19; age 37 a±13 a) which was treated with placebo 1 tablet, tid for 12 wk. Effects were evaluated with Hamailton anxiety scale (HAMA), self-rating anxiety scale (SAS), clinical global impression scales (CGI) and treatment emergent symptoms scale (TESS), before and after the wk 2,4,8,12 of treatment.　RESULTS: The excellent response rates of paroxetine group and benzodiazepines group were 90 % and 50 % (P<0.01). The side-effects of paroxetine group were dry mouth, constipation, nausea, but those were less than that of benzodiazepines group. 　CONCLUSION: The study suggests that paroxetine is an effective drug for the long treatment of GA and the side-effect is less.

Objective　To study the relationship between the changes of cytosine，thymine，guanine（CTG）repeat numbers and brain stem BAEP,SEP and VEP in patients with myotonic dystrophy（DM） and their family members.Methods　The repeat numbers of CTG，BAEP， SEP and VEP of DM gene were determined by PCR amplification and DNA hybridization in 5 patients with DM and 16 members from 3 families.Results　The repeat numbers of CTG in 10 normal persons were 30，BAEP，SEP and VEP were normal.The repeat numbers of CTG in 5 patients with DM were over 85，two cases of them were over 1605，they were significantly higher than the normal persons.4 cases in 16 family members were normal,CTG repeat numbers of 12 cases were over normal genes,CTG repeat numbers were related to clinical symptom, BAEP，SEP and VEP.Conclusion　The gene diagnosis of DM was found to be consistent with its clinical symptom，the changes of BAEP，SEP and VEP.

Objective To study the relationship between the changes of cytosine,thymine,guanine(CTG)repeat numbers and brain stem BAEP,SEP and VEP in patients with myotonic dystrophy(DM) and their family members.Methods The repeat numbers of CTG,BAEP, SEP and VEP of DM gene were determined by PCR amplification and DNA hybridization in 5 patients with DM and 16 members from 3 families.Results The repeat numbers of CTG in 10 normal persons were 30,BAEP,SEP and VEP were normal.The repeat numbers of CTG in 5 patients with DM were over 85,two cases of them were over 1605,they were significantly higher than the normal persons.4 cases in 16 family members were normal,CTG repeat numbers of 12 cases were over normal genes,CTG repeat numbers were related to clinical symptom, BAEP,SEP and VEP.Conclusion The gene diagnosis of DM was found to be consistent with its clinical symptom,the changes of BAEP,SEP and VEP.

This paper reports BAEP, SEP and VEP of 13 patients with hereditary motor and sensory neuropathy in a family. The results showed that 56 target parameters (86.2%) were abnormal in 65 target parameters of BAEP, and SEP of 12 (92.3%) in 13 cases were abnormal, demonstrating that the passageways of peripheral nerve and central nerve were damaged at the same time. VEP of 10 (76.9%) in 13 cases were abnormal. It is concluded that BAEP, SEP and VEP of these patients are significant different from normals (P

Objective To investigate the effects of splenctomy on the idiopathic thrombocytopenic purpura (ITP) patients. Methods 9 patients with ITP were involved in the present study,who were performed with splenecto-my because of refractoriness, contraindicatiun and intolerance during corticosteroids therapy. Results The average platelet count of the patients before operation was 35×109/L,while the first,4th and 7th day after operation,the aver-age platelet count was 98×109/L, 179×109/L and 235×109/L. After follow-up for 6 months,there were 7 cases having marked improvement, and the total effective rate was 88.9%. Conclusion Splenectomy is a recommendable method for ITP, expecially for those are inefficient,incompatible and intolerated to continually pharmacotherapy.

0.05).While the expression of C-erbB-2 rather than ER and PR was correlated to lymph node metastasis(P