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为探讨p16基因缺失及甲基化在小儿急性淋巴细胞白血病(ALL)发病中的作用,认识p16蛋白失活的分子机制。应用差异PCR技术检测42例初治、17例缓解期小儿ALLp16基因的纯合缺失及甲基化。结果42例ALL中p16基因纯合缺失率占38.1%,T系ALL占80%,显著高于B系ALL22.5%,P〈001。17例缓解期ALL均无基因缺失。9例p16基因纯 合缺失是小儿ALL,尤其T系ALL最常见的基 相似文献
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为探讨p16基因纯合子缺失和点突变与儿童急性白血病(AL)发生,发展及预后的关系。用聚合酶链反应(PCR),DNA单链构象多态性(SSCP)分析和DNA测序技术研究53例初治和复发儿童AL及30例对照组p16基因纯合子缺失和点突变的情况。结果:儿童ALp16基因纯合子缺失及点突变为28.30%(15/33例),对照组未发现缺失及突变。ALL组p16基因纯合子缺失为35.00%(14/40例),其中 相似文献
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急性淋巴细胞白血病85例免疫表型分析 总被引:2,自引:0,他引:2
目的 分析儿童急性淋巴细胞白血病(ALL)的免疫表型特点。方法 用一组系列相关单克隆抗体和流式细胞术间接免疫荧光法对85例儿童ALL进行免疫分型。结果 T系ALL占28.2%,B系ALL61.2%,T/B急性混合细胞白血病(AMLL)8.2%,其中髓系抗原表达率21.2%;各组间L1、L2比率、染色体异常及治疗完全缓解(CR)率均无显著性差异(P〉0.05);T-ALL中CD3平均阳性率较CD2、 相似文献
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聚合酶链反应对小儿急性呼吸道感染多病原学检测及临床研究 总被引:1,自引:0,他引:1
63例小儿急性呼吸道感染(ARI)应用聚合酶链反应(PCR)针对肺炎衣原体、肺炎支原体、沙眼衣原体、呼吸道合胞病毒、腺病毒进行5种病原联合检测。肺炎衣原体感染占第1位,阳性22例,阳性率34.9%(22/63),其中3岁以下小儿占19例(19/22,86.8%)。其次为呼吸道合胞病毒感染,阳性19例,阳性率30.2%(19/63)。混合感染7例,其中5例为呼吸道合胞病毒、肺炎衣原体感染。 相似文献
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为了了解儿童急性淋巴细胞白血病的免疫表型,应用一组单克隆抗体及流式细胞仪间接免疫荧光法对63例初治儿童急性淋巴细胞白血病(ALL)免疫分型:T淋巴细胞型、B淋巴细胞型、T/B混合型及裸核(Null型)ALL分别为41.3%、46%、9.5%、3.2%,髓系抗原(My)及CD(34)表达率为17.4%和28.5%,My+ALL中CD(34)表达为54.5%,显著高于My-ALL(23.3%)(P<0.01),T/B混合型ALL对My及CD(34)均有高表达,与T、B-ALL相比均有显著差异(P<0.01-0.05) 相似文献
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流式细胞仪分析儿童急性淋巴细胞白血病免疫表型63例 总被引:2,自引:0,他引:2
为了了解儿童急性淋巴细胞白血病的免疫表型,应用一组单克隆体及流式细胞仪间接免疫荧光法对63例初治儿童急性淋巴细胞白血病(ALL)免疫分型,T淋巴细胞、B淋巴细胞型、T/B混合型及裸核ALL分别为41.3%、46%、9.5%、3.2%,髓系抗原(My)及CD34表达率为17.4%和28.5%,My^+ALL中CD34表达为54.5%,显著高于MyALL(23.3%),T/B混合型ALL对My及CD3 相似文献
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Ph^1染色体阳性小儿急性淋巴细胞白血病五例报告 总被引:1,自引:0,他引:1
Ph1染色体阳性小儿急性淋巴细胞白血病五例报告张影梅杜玲珍陈赛娟黄薇Ph1染色体阳性急性淋巴细胞性白血病(Ph1+ALL)是急性淋巴细胞白血病(ALL)的一种亚型。这一类型ALL预后甚差。Ph1染色体是第9号染色体上的ABL基因和第22号染色体上的B... 相似文献
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目的探讨小儿急性淋巴细胞白血病(ALL)的克隆多样性。方法:聚合酶链反应扩增小儿ALL的免疫球蛋白重链(IgH)和T细胞受体(TCRγ)重排基因,用单链构象多态性(SSGP)、以及异源双链形成(HDF)方法,分析基因重排方式。结果:37例中,单克隆的IgH/TCR,基因重排中除了单等位基因重排11例(33%)外,有16例(49%)是双等位基因重排,另6例是寡克隆重排。结论:用抗原受体重排基因分析可以发现,小儿ALL存在克隆多样性现象,且初步提示预后较差。 相似文献
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Prof. Ulrich Wahn 《Pediatric allergy and immunology》1998,9(3):116-124
There is a common progression known as the allergic march from atopic dermatitis to allergic asthma. Cetirizine has several antiallergic properties that suggest a potential effect on the development of airway inflammation and asthma in infants with atopic dermatitis. Methods. Over a two year period, 817 infants aged one to two years who suffered from atopic dermatitis and with a history of atopic disease in a parent or sibling were included in the ETAC® (Early Treatment of the Atopic Child) trial, a multi-country, double-blind, randomised, placebo-controlled trial. The infants were treated for 18 months with either cetirizine (0.25mg/ kg b.i.d.) or placebo. The number of infants who developed asthma was compared between the two groups. Clinical and biological assessments including analysis of total and specific IgE antibodies were performed. Results. In the placebo group, the relative risk (RR) for developing asthma was elevated in patients with a raised level of total IgE (≥ 30 kU/I) or specific IgE (≥ 0.35 kUA/I) for grass pollen, house dust mite or cat dander (RR between 1.4 and 1.7). Compared to placebo, cetirizine significantly reduced the incidence of asthma for patients sensitised to grass pollen (RR = 0.5) or to house dust mite (RR = 0.6). However, in the population that included all infants with normal and elevated total or specific IgE (intention-to-treat - ITT), there was no difference between the numbers of infants developing asthma while receiving cetirizine or placebo. The adverse events profile was similar in the two treatment groups. Discussion. Raised total IgE level and raised specific IgE levels to grass pollen, house dust mite or cat dander were predictive of subsequent asthma. Cetirizine halved the number of patients developing asthma in the subgroups sensitised to grass pollen or house dust mite (i.e. 20% of the study population). In view of the proven safety of the drug, we propose this treatment as a primary pharmacological intervention strategy to prevent the development of asthma in specifically sensitised infants with atopic dermatitis. 相似文献
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金宇 《中国实用儿科杂志》2012,27(6):412-415
孤独症谱系障碍(autistic-spectrum disorders,ASDs)近年来患病率逐年攀升至1%左右,其症状往往伴随终生,成为严重威胁儿童健康和发展的神经发育性疾患;注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)是儿童期最常见的精神障碍,国内报道患病率为4.13%~5.83%,其症状可延续至青少年期,甚至到成年期[1]。这两类精神障碍在成年期的临床表现、共患病、治疗策略和预后与儿童期有哪些不同呢?本文通过回顾相 相似文献
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EXCITING NEW TREATMENT APPROACHES FOR PATHYPHYSIOLOGIC MECHANISMS OF SICKLE CELL DISEASE 总被引:1,自引:0,他引:1
Vipul N. Mankad 《Fetal and pediatric pathology》2001,20(1):1-13
During the past several decades, our understanding of the complex pathophysiology of vasoocclusion associated with sickle cell disease has improved greatly. Interaction of genes, hemoglobin molecules, red cell membrane and metabolic changes, cell-cell interactions and cell-plasma interactions, red cell adhesion to vascular endothelium, activation of coagulation, and vascular reactivity play a role in vaso occlusion. Penicillin prophylaxis of pneumococcal infections and appropriate use of blood transfusions and other supportive measures improved survival of sickle cell patients. Hydroxyurea made a major impact on sickle cell therapy when it was shown to decrease acute painful episodes, acute chest syndrome, and the need for blood transfusion in adults. Significant experience in the use of hydroxyurea has been accumulated in older children. The benefits and risks of hydroxyurea for younger children and long-term risks in all patients will be evaluated in future investigations. Other promising therapies include butyrate compounds, clotrimazole, magnesium supplementation, poloxamer 188, antiadhesion agents, anticoagulant approaches, and nitric oxide. Hemopoietic transplantation remains the only curative therapy. However, several transgenic mouse models are available for studies of gene therapy or other treatment approaches on biochemical, cellular, and pathologic effects of mutant genes. 相似文献
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Takechi T Maeda A Hisakawa H Wakiguchi H Takeuchi T Sonobe H Ohtsuki Y 《Pediatric hematology and oncology》2002,19(7):459-465
A 21-year-old man with granular lymphocyte-proliferative disorders (GLPD) associated with chronic active Epstein-Barr virus (EBV) infection is described. Chromosomal analyses revealed several clonal abnormalities and two of them were mainly repetitious. High copy numbers of monoclonal EBV genome were also detected in the proliferative large granular lymphocytes (LGLs), indicating the monoclonal expansion of EBV-infected LGLs. The patient had an indolent course for several years, and there was no evidence of infiltrations of his bone marrow until the end stage. At autopsy, microscopic studies revealed marked infiltrations of LGL in the liver and spleen, and the infiltrating cells were NK-cell immunophenotype. The infiltrated LGLs showed latency I. 相似文献
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LUTEINIZING HORMONE RECEPTOR MUTATIONS IN DISORDERS OF SEXUAL DEVELOPMENT AND CANCER 总被引:2,自引:0,他引:2
Shao-Ming Wu Ellen Werber Leschek Owen M. Rennert Wai-Yee Chan 《Fetal and pediatric pathology》2000,19(1):21-40
Human male sexual development is regulated by chorionic gonadotropin (CG) and luteinizing hormone (LH). Aberrant sexual development caused by both activating and inactivating mutations of the human luteinizing hormone receptor (LHR) have been described. All known activating mutations of the LHR are missense mutations caused by single base substitution. The most common activating mutation is the replacement of Asp-578 by Gly due to the substitution of A by G at nucleotide position 1733. All activating mutations are present in exon 11 which encodes the transmembrane domain of the receptor. Constitutive activity of the LHR causes LH releasing hormone-independent precocious puberty in boys and the autosomal dominant disorder familial male-limited precocious puberty (FMPP). Both germline and somatic activating mutations of the LHR have been found in patients with testicular tumors. Activating mutations have no effect on females. The molecular genetics of the inactivating mutations of the LHR are more variable and include single base substitution, partial gene deletion, and insertion. These mutations are not localized and are present in both the extracellular and transmembrane domain of the receptor. Inactivation of the LHR gives rise to the autosomal recessive disorder Leydig cell hypoplasia (LCH) and male hypogonadism or male pseudohermaphroditism. Severity of the clinical phenotype in LCH patients correlates with the amount of residual activity of the mutated receptor. Females are less affected by inactivating mutation of the LHR. Symptoms caused by homozygous inactivating mutation of the LHR include polycystic ovaries and primary amenorrhea. 相似文献
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OBJECTIVE: To ascertain the profile of cases of measles seen at a general hospital during a recent outbreak that occurred despite a measles vaccination program. METHODOLOGY: A retrospective study from January 1991 to March 1998. All patients with measles (ICD code 055. 9) seen at the emergency unit or as inpatients were included. RESULTS: There were 87 cases identified. The diagnosis was clinical in all and proven serologically in 71%. Eighty-five per cent of the cases occurred between January 1997 and March 1998. There was a bi-modal age distribution with peaks in the very young (= 18 months) and those aged 16-20 years. The majority was unvaccinated (58/87). A proportion (11/87) demonstrated vaccine failure, most likely primary failures. CONCLUSION: This changing measles epidemiology suggests lowering of herd immunity. 'Catch up' vaccinations in July- October 1997 given to school children aged 12-18 years (200 000 individuals or 82% of cohort), may have helped contain the outbreak. These results substantiated the need for a two-dose policy and 'catch-up' immunization program. 相似文献
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E Olafsdottir B Ellertsen A Berstad G Fluge 《Acta paediatrica (Oslo, Norway : 1992)》2001,90(6):632-637
The aim of the study was to explore psychological factors and autonomic activity in children with recurrent abdominal pain and to compare them with those in a control group of healthy children. The Personality Inventory for Children was used for assessment of developmental, emotional and psychosocial factors in 25 children with recurrent abdominal pain (age, 7-15 y). Parasympathetic and sympathetic functions in these children and in 23 healthy control subjects (age, 7-13 y) were also investigated, non-invasively using a computerized polygraph. Vagal tone (parasympathetic function) was indexed by calculation of respiratory sinus arrhythmia in beats/min. Skin conductance (sympathetic function) was recorded by the constant current method. On the Personality Inventory for Children, 16 patients had high scores on somatic concern. Several patients had scores in the clinical range for depression, withdrawal and anxiety, but the mean scores for these personality profile scales were well within the normal range of healthy children. Interestingly, there was a spike on the L (Lie)-scale for most of the patients and 15 patients had scores above or close to the clinical cut-off value. As compared with the scores in healthy children, vagal tone and sympathetic tone were normal. Conclusion: Many children with recurrent abdominal pain have scores in the clinical range for depression, withdrawal, anxiety and L-scale indicating coping problems, denial and a trend towards somatic concern that may contribute to the evolution of abdominal pain. Autonomic nerve activity was not disturbed in these children. 相似文献
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Donna Traves 《Paediatrics & Child Health》2019,29(9):384-388
The World Health organisation recommends breast feeding infants for the first six months of life. When this breast feeding does not occur either through parental choice or medical need, infant formulas will be required. There is a bewildering array of formulas on the UK market for many different requirements. When faced with an unsettled infant many parents (and healthcare professionals) will experiment with the infant formula available and then attend the paediatric clinic looking for help and advice. It is therefore essential that paediatricians understand what milks are available and what the key differences between different products are. This review attempts to provide a simple guide through many of the formulations currently available in the UK; and offers advice for the dietary management of the child with extra calorie requirements, infants with cow's milk protein allergy, gastro oesophageal reflux disease, apparent unresolved hunger and infantile colic. Whatever the underlying condition, there is likely to be an infant formula that is suitable in this generation of ever expanding formulations. 相似文献
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Inhibition of the function of pulmonary surfactant in the alveolar space is an important element of the pathophysiology of many lung diseases, including meconium aspiration syndrome, pneumonia and acute respiratory distress syndrome. The known mechanisms by which surfactant dysfunction occurs are (a) competitive inhibition of phospholipid entry into the surface monolayer (e.g. by plasma proteins), and (b) infiltration and destabilization of the surface film by extraneous lipids (e.g. meconium-derived free fatty acids). Recent data suggest that addition of non-ionic polymers such as dextran and polyethylene glycol to surfactant mixtures may significantly improve resistance to inhibition. Polymers have been found to neutralize the effects of several different inhibitors, and can produce near-complete restoration of surfactant function. The anti-inhibitory properties of polymers, and their possible role as an adjunct to surfactant therapy, deserve further exploration. 相似文献