脐血造血干细胞移植治疗儿童血液病14例临床观察

脐血造血干细胞移植可以根治儿童白血病、再生障碍性贫血、血红蛋白病及先天性免疫缺陷等疾病。自1988年Gluckman等首先应用脐血移植（CBT）成功治疗1例儿童Fanconi贫血以来,CBT发展迅速。由于脐血来源广、采集方便、对供者无害、移植物抗宿主病（GVHD）发生率低而得到广泛应用。我们采用脐血造血干细胞移植治疗14例儿童血液病,现报告如下。     

再生障碍性贫血的临床诊断治疗进展

再生障碍性贫血(AA)是儿童常见的难治性血液病之一,尤其重型再生障碍性贫血(SAA),患者往往病情重,死亡率高。近年随着有关免疫介导致病机制的深入研究及临床免疫抑制治疗经验的不断总结,儿童AA的诊断和治疗得到不断的完善和发展。而且随免疫抑制治疗的广泛应用及骨髓移植的开展,SAA疗效已得到显著提高。本文就儿童AA的诊断和治疗的最新进展作一总结。     

儿童再生障碍性贫血的临床诊断治疗

再生障碍性贫血(再障)是儿童期较为常见且严重的血液病之一。我国属于再障高发地区,儿童处于高发年龄段,且重型再障发病率高于成人,需要引起高度重视。现结合学习中华医学会《再生障碍性贫血诊断分型与疗效标准》和近年来国内外文献,总结以往经验,对儿童再障诊治目前可能存在的问题、诊断和鉴别诊断要点、治疗原则与具体措施,密切结合临床实际,提出具体诊治建议与措施。     

儿童再生障碍性贫血的病因研究

儿童再生障碍性贫血(aplastic anemia,AA),简称儿童再障,是儿童血液病中较受关注的一类疾病,其实质是由多种原因引起的骨髓造血功能减低或衰竭,导致周围血全血细胞减少的综合病征.临床上常表现为较严重的贫血、出血和感染.儿童易于患重型再障,并且在急性再障的发病中,小儿占有较高的比例.Clausen等报道北欧5国15岁以下的儿童重型     

儿童血液系统疾病临床研究进展

2010年儿童血液专业在多方面领域有了长足的进步和发展,如在白血病、恶性淋巴瘤、再生障碍性贫血及实体瘤等方面取得了一定的临床研究成果,特别是国家科技支撑课题—多中心合作的儿童急淋白血病诊断、规范化治疗和预后评估的研究工作获得完成,取得了初步成绩,为今后儿科血液多病种的多中心研究合作模式奠定了基础。本文将对2010年以来国内在儿童血液病领域临床和实验     

83例儿童急性溶血性贫血临床分析

溶血性贫血是儿科较为常见的血液病,国外溶血性贫血占贫血病人的5%[2],国内虽无确切的统计学数据,但发病率也处于较高的水平.本文对83例急性溶血性贫血患儿的临床资料举行分析,现报告如下.     

深圳南山区3岁内儿童贫血的影响因素

目的　了解深圳南山区 3岁内儿童贫血现状及影响因素。方法　SDS法测血红蛋白 (Hb) ,问卷调查有关社会环境因素。结果　 2 35例儿童Hb(112 .5 0± 10 .5 5 ) g/L ,贫血患病率 31.4 8%。儿童年龄越小 ,贫血患病率越高 (χ2 =4 6 .0 73　P <0 .0 1) ;暂住儿童贫血患病率高于常住儿童 (χ2 =6 .2 2 7　P <0 .0 5 ) ;男女童贫血患病率无明显差异 (P >0 .0 5 )。儿童月龄、膳食中蔬菜量、每次就餐所用时间、近 0 .5年内是否患肠道寄生虫感染、户籍是否暂住是儿童贫血的影响因素。结论　我区 3岁儿童贫血患病率仍然相当高 ,暂住、流动儿童 ,2个月岁组婴儿更是高危人群     

儿童缺铁性贫血的流行病学研究进展

越来越多的研究表明缺铁性贫血严重危害儿童健康,对儿童认知和精神运动的发育造成不可逆转的损害.虽然我国人民经济生活水平有了极大改善,但儿童缺铁性贫血状况仍不容乐观.该文主要就我国儿童缺铁性贫血的状况、缺铁的危险因素、相应的预防治疗措施等进行综述.     

泉州市6月～7岁儿童贫血与佝偻病关系分析

目的 了解泉州市儿童贫血和佝偻病之间的关系。方法 采用分层承机抽样方法，对被调查儿童进行体格检查，检测血红蛋白、血清钙、磷、碱性磷酸酶，拍摄左腕关节、双膝关节X线片。结果 2939名儿童无贫血组及贫血组佝偻病患病率分别为8．71％及18．80％，无佝偻病组及佝偻组儿童贫血患病率分别为15．93％及31．49％。结论 儿童贫血和佝偻病之间存在着密切关系。     

非血缘HLA不相合脐血移植治疗儿童重型再生障碍性贫血二例

国内有关脐血治疗恶性血液病和遗传性疾病的病例屡有报道,而关于脐血治疗重型再生障碍性贫血（SAA）的病例很少。我们自2002年12月采用非血缘HLA一个位点不合的脐血移植治疗儿童SAA患儿2例。现将结果报告如下。     

Allergic factors associated with the development of asthma and the influence of cetirizine in a double-blind, randomised, placebo-controlled trial: First results of ETA®

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.     

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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     

Infiltrations of Epstein-Barr virus-carrying cells in granular lymphocyte-proliferative disorders corresponding to chronic active Epstein-Barr virus infection

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.     

LUTEINIZING HORMONE RECEPTOR MUTATIONS IN DISORDERS OF SEXUAL DEVELOPMENT AND CANCER

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.     

EXCITING NEW TREATMENT APPROACHES FOR PATHYPHYSIOLOGIC MECHANISMS OF SICKLE CELL DISEASE

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.     

Bibliometric data: a disaster for many non-American biomedical journals

Bibliometric data published by the Institute of Scientific Information in Philadelphia (ISI), and which was previously discussed in Acta Paediatrica , has increasingly been used despite all the relevant and severe criticism that has been raised against this method of evaluating individual research results and grading scientific journals. It is obvious that the present trend regarding the use of bibliometric data as a basis for priorities and funding of research and for the promotion of individual scientists favours American-oriented research projects at the expense of those that are based on concepts of predominantly European relevance.

Conclusion: For the future of non-American research, it is important that no single super-power, i.e. the USA, should dominate scientific priorities. The condition for efficient European competition is that European Centres with high levels of competence for creative research and training of scientists from all over the world are established. In addition, it is important that the results of European research are published in prestigious European journals, as was the situation before World War II.     

Personality profiles and heart rate variability (vagal tone) in children with recurrent abdominal pain

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.     

Understanding infant formula

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.     

Overcoming surfactant inhibition with polymers

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.