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06 November 2011, Volume 26 Issue 11 Previous Issue    Next Issue

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Clinical study of prenatal diagnosis for seven high-risk fetus with severe combined immunodeficiency disease by amniocentensis ZHANG Zhi-yong*，ZHANG Cui，WU Jun-feng，ZHAO Xiao-dong，ZHAO Yao，JIANG Li-ping，YANG 2011, 26(11): 825.  Abstract ( )   Abstrat：Objective　To investigate the value of amniocentensis combined with sequence analysis and karyotyping in prenatal daiagnosis of high-risk fetus with severe combined immunodeficiency disease. Methods　Seven patients with severe combined immunodeficiency disease were diagnosed by gene analysis from 2008 to 2010，including six cases of X-linked severe combined immunodeficiency disease and one case of Omenn syndrome.After detailed inquiry for medical history， seven pedigree trees were drawn， including 20 carriers of abnormal genes.From 2008 to 2011， seven specimens of amniotic cell gotten by amniocentensis were collected from seven high-risk pregnant women with abnormal gene during 18 to 20 gestational weeks.IL-2RG or RAG1 gene was amplified by polymerase chain reaction （PCR） from DNA of amniotic cell gotten and sequencing was performed directly on the PCR products in forward and reversely. Karyotyping was performed in amniotic cell gotten cultivated by orthotope slice and G band staining.Gene analysis and evaluation of immune function were reexamined in high-risk fetus after delivery. Results　Amniocentensis and culture of amniotic cell gotten all successed in seven fetuses. Result of gene analysis and karyotyping showed that three male fetuses and two female fetuses were normal and two male fetuses were defective.Abnormity of IL-2RG gene was confirmed in the two defective fetuses. After delivery， the result of gene analysis and evaluation of immune deficiency was the same with that of prenatal diagnosis. Conclusion　Amniocentensis and karyotyping are qualified for prenatal diagnosis of severe combined immunodeficiency disease for its reliability，safety and less cost.

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Research on multiple drug resistance gene and expression of P-glycoprotein in peripheral blood in patients with infantile spasms DAI Yuan-yuan*，GENG Li-juan，YUE Xuan，WEI Hai-yan，YUAN Bao-qiang，ZHANG Dong-li 2011, 26(11): 829.  Abstract ( )   Abstract：Objective　To observe the expression of multiple drug resistance1（MDR1） mRNA and P-glycoprotein （P-gp） in peripheral blood，discuss the relationship between infantile spasms （IS）and MDR. Methods　Use reverse transcription polymerase chain reaction （RT- PCR）to Semi-quantitatively detect the expression of MDR1 gene mRNA in children's peripheral blood，flow cytometry to messure the expression of P-glycoprotein. The patients were divided into A group（IS not treated），B group（IS treated over 6 months），C group （other seizure types）and D group （healthy control group）. Results　A positive correlation was found between the expression of MDR1 and P-gp（r = 0.86，P < 0.05）.The expression of MDR1 gene and P-gp was significantly different in four groups in peripheral blood（P < 0.05）.MRNA's expression of MDR1 gene and P-gp have increased in peripheral blood in A，B and C group. And MDR1 gene mRNA and P-gp expression level in A and B groups was significantly higher than that of C group and D group（P < 0.001，P < 0.05）.There was no significant difference between A and B group. Conclusion　The increased expression of MDR1 P-gp in children with infantile spasms may be an important reason for clinical drug resistance.

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Clinical and electroencephalographic features of myoclonic-astatic epilepsy LIN Xi，BAO Xin-hua，LIU Xiao-yan，YANG Zhi-xian，CHANG Xing-zhi，FU Na，XIONG Hui，WAN 2011, 26(11): 832.  Abstract ( )   Abstract：Objective　To investigate the clinical and electroencephalographic characteristics and treatment of myoclonic-astatic epilepsy （MAE）. Methods　Twelve MAE cases who were diagnosed during 2006—2010 in Peking University First Hospital were enrolled in this study. The clinical and electroencephalographic （EEG） characteristics，treatment and prognoses of MAE were analyzed. Results　Among 12 cases，eleven were male and only one was female.Five of them had family history of febrile convulsion or epilepsy. Age at presentation ranged from 15 to 45 months （average 32.3 months）.All the patients showed normal development before the onset of epilepsy and no abnormality was found in brain MRI.All the MAE patients had multiple generalized seizure types including tonic-clonic，myoclonic-astatic，myoclonic，atonic，atypical absence and tonic seizures. Myoclonic-astatic and atypical absence seizures were present in all cases.Six patients had a history of non-convulsive status epilepticus.The interictal EEG showed diffused slow wave background in 10 cases，and generalized spike and wave discharges （no focal discharges） in all patients.Valproate was the common drug choice which was often combined with other antiepileptic drugs.ACTH may be effective.The time of follow-up ranged from 1 month to 4 years and 7 months.Seizures were controlled from 1 months to 3 years in 7 cases and not completly controlled in 5 cases.Seven patients showed normal intelligence and five showed mental retardation after onset. Conclusion　MAE is one of idiopathic generalized epileptic syndrome in childhood characterized by myoclonic-astatic seizure.NCSE often occurred in MAE.Clinical observation，ictal video-EEG and electromyography （EMG） are essential to the diagnosis of MAE.Valproate alone or combined with other antiepileptic drugs such as lamotrigine could have a favorable effect on MAE.The prognosis of MAE is various.

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Multiple linear regression analysis of the correlation between psychological behaviors characteristics and diet behavior in the school-age children SHEN Jie*，ZHANG Peng，LIU Fu-kang，WANG Ting-ting，SUN Gui-ju，LIU Jiang-hong 2011, 26(11): 836.  Abstract ( )   Abstract：Objective　To analyze the effect of behavior characteristics of children on diet behavior，providing scientific knowledge for nutrition instruction. Methods　A total of 302 fifth-grade primary school children from Jintan were selected. A questionnaire survey on nutritional behavior and psychological behavior was conducted among them from June to July 2010. The effect factors of diet behavior were analyzed with univariate linear regression. The variable （P < 0.05 in univariate regression model） was selected to establish multivariate regression model. Results　The univariate linear regression analysis showed that anxious/depressed，social problems，thought problems，attention problems，aggressive behavior score and total score in boys and girls were negatively correlated with diet behavior score. Multiple linear regressions showed that attention problem scores in boys and thought problem scores in girls were negatively correlated with diet behavior score. Conclusion　The findings demonstrate that psychological behaviors of school-age children are closely associated with diet behaviors. It is necessary to add health-related curriculum on risk behaviors prevention into quality education，carry out comprehensive behavior surveillance on psychology，nutrition and diet，and conduct early intervention in adolescents.

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Clinical study on the leukotriene receptor antagonist in the treatment for adenoidal hypertrophy in children. ZHU Mei-hua，WANG Zhi-jian，WEN Hong-yan，LIANG Min 2011, 26(11): 840.  Abstract ( )   Abstract：Objective　To study the clinical feasibility of therapy with leukotriene receptor antagonist， montelukast for adenoidal hypertrophy in children. Methods　Children with upper respiratory cough syndrome complicated with adenoidal hypertrophy and/or allergic rhinitis were selected for the present study. The study population was divided into 2 groups： experiment group and control group. Symptomatic therapy together with antibiotics，if needed， were used for both groups， while leukotriene antagonist （Montelukast） was added to experiment group for a total of 16 weeks. The change of duration of cough symptoms of respiratory related sleep disorder score and adenoid/pharyngeal ratio （A/N ratio） were measured. Results　After 16 weeks’ therapy： （1） Sleep disorder score， number of days with cough and the ratio of A/N reduced from （12.31±2.58），（52.59±11.87）d，（0.77±0.04） to （5.68±3.30），（19.99±11.24）d and （0.64±0.07） respectively； the difference before and after the therapy was significant （P < 0.001）. Before and after the therapy there was no difference in the above-mentioned index in the control group （P > 0.05）. Before the therapy， there was no difference for all the above-mentioned index between the experiment group and the control group， while after the therapy， there were significant differences between the two groups. （2）Statistical analysis for those with upper respiratory cough syndrome complicated with simple adenoidal hypertrophy （AH group） and those with adenoidal hypertrophy complicated allergic rhinitis （AH-AR group） showed that there was no difference for all the above index between the two groups （P < 0.001）. Conclusion　Montelukast therapy is able to reduce the number of days with cough， and improve in various degree each type of symptoms of adenoidal hypertrophy and reduced the size of the adenoid； its efficacy for simple adenoidal hypertrophy is better than that for patients with adenoidal hypertrophy complicated with allergic rhinitis.

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Investigating the changes of serum myocardial enzyme levels in children with Duchenne muscular dystrophy WANG Li-bo，MA Hong-wei，WANG Ling，HU Man，REN Shuang，TAN Ying-hua 2011, 26(11): 843.  Abstract ( )   Abstract：Objectives　To observe whether serum myocardial enzyme level changes with clinical progression and age in patients with Duchenne Muscular Dystrophy （DMD）. And the regularity in the changes. Methods　Retrospectively analyze the serum myocardial enzyme level （include AST， CK， CK-MB， LDH， α-HBDH） of 299 patients with DMD from Department of Developing Pediatric in Shengjing Hospital of China Medical University from 1984 to 2011. They were divided into three groups according to clinic characteristics： （1） The age between 0 to < 5 years old was in group 1；（2） The age between 5 to < 10 years old was in group 2 ； （3） Older than 10 years old was in group 3. Results　The serum myocardial enzyme level was high in all the patients of DMD. The highest was found in 2 and 3 groups. The serum myocardial enzyme level was lower in group 3 than that of 1 and 2 groups. Conclusions　The serum myocardial enzyme level reaches a peak before 10 years old and then reduces with increasing age in children with DMD. The characteristis of  changes of serum myocardial enzyme level are suspected to reflect the rate of muscle decay.

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Clinical and electroencephalographic characteristics of perioral myoclonia with absences CHEN Chun-hong，WU Hu-sheng，LV Jun-lan，WANG Xiao-hui 2011, 26(11): 846.  Abstract ( )   Abstract：Objective　To gain better understanding of the clinical characteristics and electroencephalographic features of perioral myoclonia with absences. Methods　The clinical data of 2 patients were analyzed. Results　Of the 2 patients， onset age was from two years to four years old. The prominent manifestation of seizure was perioral rhythmic myoclonia with staring of their two eyes，accompanied by impairment of consciousness varying from mild to severe. The duration of seizures was brief from seconds to more than ten seconds and with a high frequency. Ictal EEG consisted of generalized discharges of 3 Hz spikes and wave complexes predominantly，interictal EEG showed brief run of generalized spike/spikes and wave. Of the 2 patients，their personal history （ pregnancy， birth， neonatal period and psychomotor development ） was normal. Their family history was positive（aunt or uncle had epilepsy）. Of the 2 patients， one had generalized tonic-clonic seizure three times from two to three years old，and the other had absence status. The 2 patients were treated with sodium valproate or sodium valproate combined with clonazepam，and they all were seizure free after treatment with anti-epileptic drugs initially，and one patient was seizure free for ten months by now. Conclusion　Perioral myoclonia with absences is an diopathic generalized epilepsies syndrome with characteristic absence seizure and perioral rhythmic myoclonia. Video-EEG monitoring is the most important method in the diagnosis of this illness.

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Study on self-concept of children with obesity and short stature DING Da-wei，ZHONG Yan，LIU Kang-xiang. 2011, 26(11): 849.  Abstract ( )   Abstract：Objectives　To investigate the level of self-concept of children with obesity and short stature，and to compare the level of self-concept of them with normal children. Methods　Piers-Harris Children’s Self-concept Scale was used in 86 obesity children and 69 short stature children in Changsha. Results　Obesity children scored significantly lower than normal children on the total scores of self-concept，especially on sub-scales of behavior，sociability，anxiety，body and appearance；there were no significant differences in the sub-scales of well-being and satisfaction，intelligence and school appearance between obese children and normal children.Short stature children scored significantly lower on the total scores of self-concept，especially on sub-scales of behavior，body and appearance，gregarization，well-being and satisfaction，than normal children；there were no significant differences in the sub-scales of intelligence and school appearance and anxiety between short stature children and normal children. Conclusion　The level of self-concept of children with obesity and short stature is significantly lower than normal children. More attention should be paid to the development of self-concept of obese and short stature children.

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The clinical and pathological typing and prognosis in children with Henoch-Schonlein purpura nephritis. YU Lei，SUN He 2011, 26(11): 852.  Abstract ( )   Abstract：Objective　To discuss the relationship between the clinical and pathological features and prognosis of children with Henoch-schonlein purpura nephritis（HSPN）. Methods　Clinical and pathological records of 55 patients with HSPN，who were admitted to the People’s Hospital of Xinjiang Vigur Autonomous Region from January 2000 to Octomber 2008，were retrospectively collected and analyzed. Results　Hematuria with proteinuria was 22 cases（40.0%），nephritic syndrome was 16 cases（29.1%），while simple hematuria or proteinuria，acute glomerulonephritis and rapidly progressive glomerulonephritis were respectively 6 cases（10.9%），4 cases（7.3%） and 1 case（ 1.8%）. The pathologic features were mesangical proliferation，glomerulosclerosis and crescent formation. According to the standard of ISKDC，the majority of pathological changes of HSPN were gradeⅡand grade Ⅲ，respectively 27 cases（49.1%） and 16 cases（29.1%）.The type of clinical manifestation was associated with pathological classification（P < 0.05）. The more serious clinical manifestations was，the more severe pathological classifications and their prognosis were. Prognosis was associated with pathological classification （P < 0.05）. The more serious pathological classifications were，the more severe their prognosis were. Pathological changes in nepheic tubule and interstitium were associated with pathological classification （P < 0.05）.The more serious pathological changes in nepheic tubule and interstitium were，the more severe their prognosis was，and their prognosis also became worse. Conclusion　In 55 children with HSPN，the longterm outcomes are closely consistent with the clinical and pathological classification. Serious clinical manifestations and pathological classifications in HSPN usually suggest poor prognosis.