调节性T细胞及Foxp3基因在再生障碍性贫血患儿外周血中的变化及意义

目的：研究CD4+CD25+CD127low调节性T细胞(Treg)及Foxp3基因在再生障碍性贫血（简称再障）患儿外周血中的表达水平,探讨其在再障发病机制中的作用。方法：采用流式细胞术分别检测21例慢性再障(CAA)、9例急性再障(SAA)和15例健康儿童（对照组）外周血Treg细胞的比例变化,并用RT-PCR方法检测其外周血中Foxp3 mRNA的表达水平。结果：SAA和CAA组患儿外周血中CD4+T细胞百分比、CD4+CD25+、CD4+CD25+CD127lowTreg细胞占CD4+T细胞百分比均低于对照组（P＜0.05）,且SAA组低于CAA组（P＜0.05）;相关基因FoxP3 mRNA在SAA患儿外周血中呈低表达（0.47±0.08）%,明显低于对照组(0.71±0.12)%和CAA组(0.68±0.14)%,P＜0.05。结论：再障患儿外周血Treg细胞和Foxp3 mRNA表达减低,可能在再障的发病过程中有重要作用,且SAA表达低于CAA,有望用于再障病情严重程度的评估。［中国当代儿科杂志,2010,12（4）：241-243］     

再生障碍性贫血患儿骨髓造血干细胞端粒酶活性及相关基因表达的研究

目的：探讨再生障碍性贫血（简称再障）患儿骨髓造血干细胞端粒酶活性及端粒酶逆转录酶（hTERT）基因和端粒酶RNA组分（hTERC）基因的表达变化和关系。方法：用重复序列扩增（TRAP）银染法和实时荧光定量RT-PCR法分别检测52例慢性再障患儿（CAA组）、13例急性再障患儿（SAA组）和21例骨髓造血正常儿童（对照组）端粒酶活性及hTERT和hTERC mRNA的表达。结果：CAA组、SAA组端粒酶活性和hTERT mRNA水平均高于对照组（P<0.01）,且CAA组端粒酶活性和hTERT mRNA水平较SAA组升高（P<0.05）;hTERC mRNA在各组间表达差异无统计学意义（P=0.812）;hTERTmRNA的表达水平与端粒酶活性呈正相关（r＝0.660,P＜0.01）。结论：端粒酶活性的表达变化与儿童再障发病及发展过程有关,hTERT表达在端粒酶活性调节过程中起重要作用。     

免疫抑制治疗儿童再生障碍性贫血疗效分析

目的探讨提高儿童再生障碍性贫血(再障,aplastic anemia,AA)疗效的治疗方法。方法回顾分析56例接受正规治疗且随访≥3个月的再障患儿的临床资料,56例按治疗方案分为2组,一组为单用环胞素A(CsA)治疗(A组),另一组抗胸腺细胞球蛋白(ATG)联合CsA免疫治疗(B组),比较两组患儿的疗效及生存率。结果 31例慢性再障(CAA)患儿中接受A组治疗30例,总体有效率为83.3%(25/30),仅1例CAA患儿接受B组治疗。25例重型再障(SAA)患儿接受B组治疗16例,治疗有效率为50.0%(8/16),较接受A组治疗的9例SAA患儿的有效率(44.4%)高,但差异无统计学意义(P>0.05)。接受B组治疗的16例SAA患儿,12个月生存率为66.7%,2年生存率70.0%。结论 ATG联合CsA免疫治疗是儿童再障,尤其是无合适供体进行造血干细胞移植的SAA患儿首选方案,但应注意足量、持续用药,并努力降低ATG治疗期间感染发生率,这对提高儿童SAA治愈率有重要意义。[临床儿科杂志,2012,30(5):428-430]     

多普勒组织速度成像法在评价室间隔缺损左心功能中的作用

目的　评估多普勒组织速度成像法 (TVI)对室间隔缺损 (VSD)患儿左心功能评价的临床应用。方法　根据VSD直径 /主动脉直径比值将 87例VSD患儿分为小型室间隔缺损 (VSDS)组、中型窒间隔缺损 (VSDM)组及大型室间隔缺损 (VSDL)组。运用TVI和M型超声及脉冲多普勒 (PWD)分别测定VSD二尖瓣环收缩期运动速度 (s)、二尖瓣环舒张早期运动速度 (e)和二尖瓣环舒张晚期运动速度 (a) ,左室射血分数 (LVEF)及二尖瓣血流频谱E峰和A峰 ,并与正常儿童对照。结果　 1.3组s、LVEF、E与正常对照组比较无明显差异 (P均 >0 .0 5)。 2 .VSDL 组e(6.66± 2 .2 5cm/s)、e/a (1.0 1± 0 .52 )明显较正常对照组 (7.96± 1.57cm/s)、(1.85± 0 .52 )低 (P均 <0 .0 5) ;而a(7.2 9± 2 .6cm/s)明显较正常对照组 (4.57± 1.3 8cm/s)高 (P <0 .0 1) ;VSDS、VSDM 组e、a、e/a与正常对照组比较无明显差异 (P >均 0 .0 5)。 3 .VSDL 组A(0 .83± 0 .2 4m/s)明显比正常对照组 (0 .66± 0 .16m/s)高 (P <0 .0 1) ;而E/A(1.0 1± 0 .52 )明显比正常对照组 (1.69± 0 .3 6)低 (P <0 .0 5) ;VSDS、VSDM 组E、A、E/A与正常对照组比较无明显差异 (P均 >0 .0 5)。结论　 1.各型VSD左心室收缩功能和小、中型VSD左心室舒张功能在婴幼儿期无明显改变。VS     

联合免疫抑制治疗儿童重型和难治型再生障碍性贫血

目的　本研究旨在探索联合免疫抑制 (CIS)治疗儿童重型再障 (SAA)和难治型再障 (RAA)的疗效 ,并进行有关疗效预测和临床方法学等方面的研究。方法　应用抗胸腺细胞球蛋白 /抗淋巴细胞球蛋白、环胞菌素A和大剂量免疫球蛋白 (HDIG)等对 36例儿童SAA(n =33)和RAA(n =3)进行CIS治疗 ,随访观察疗效 ,并将以往接受单一药物免疫抑制 (SIS)治疗的 4 3例病儿 (42例SAA ,1例RAA)作为疗效对照组。同时进行外周血淋巴细胞亚群和血清细胞因子等免疫功能指标检测 ,探索儿童再障的免疫介导致病机制及其与IS疗效的关系 ,并总结临床治疗方法与经验。结果　CIS治疗儿童再障 ,总有效率为 80 .6 % (2 9/36 ) ,其中SAA有效率和显效率分别达到 78.8% (2 6 /33)和 6 0 .6 % (2 0 /33) ,均明显高于以往SIS治疗对照组 [5 7.1% (2 4 /42 ) ,2 8.6 % (12 /42 ) ]。CIS治疗3例RAA均有效 ,而SIS治疗 1例RAA无效。儿童再障的主要异常指标为CD4 /CD8比例下降 ,IL 2R、IL 8和TNF表达增高 ,所有病例均存在 2项以上指标的明显异常。疗效预测研究显示 ,治疗前 ,病程短于 6个月或网织红细胞绝对计数高于 10× 10 9/L者 ,SIS治疗有效率显著增高 ,但上述因素与CIS疗效无关。由于采用较为合理的治疗方法和副反应防治措施 ,两组未出现明显的重要     

参麦注射液与氨茶碱治疗儿童膈肌疲劳的疗效观察

目的　观察参麦注射液与氨茶碱治疗儿童膈肌疲劳效果的异同性。方法　将 5 3例具有膈肌疲劳的住院患儿随机分为参麦注射液组 (A组 )、氨茶碱组 (B组 )和对照组 (C组 )三组。C组采用抗感染、吸氧和静脉营养等综合治疗 ;A、B组在C组治疗基础上分别加用参麦注射液和氨茶碱静脉推注。运用电阻抗呼吸图作为疗效标准 ,观察用药后 30min有效例数、膈肌疲劳消失所需的时间及治疗前后动脉血气的变化。结果　①治疗后30min内 ,A、B组的有效例数明显高于对照组 (P <0 0 5 ) ,但A、B两组间无显著性差异 (P >0 0 5 ) ,且 30min内A、B组的电阻抗呼吸图参数M值和α值分别与自身治疗前相比均明显降低 (P <0 0 1) ,而C组则无显著性差异(P >0 0 5 )。②三种治疗方法均能增加 pH值 ,降低PaCO2 。在降低PaCO2 方面 ,B组与C组相比无显著性差异(P >0 0 5 ) ,但是A组与B、C组比较则具有显著性差异 (P均 <0 0 1)。另外 ,B组患儿膈肌疲劳消失所需时间比C组患儿短 (P <0 0 1) ,而A组患儿所需时间更短 ,与B、C组相比均具有显著性差异 (P均 <0 0 1)。结论　参麦注射液治疗儿童膈肌疲劳的疗效比氨茶碱要优 ,且副作用小 ,值得临床推广。     

环胞菌素A治疗儿童再生障碍性贫血疗效研究

探讨环胞菌素 A(CSA)治疗儿童再生障碍性贫血 (再障 )的方法 ,疗效和疗效相关因素。方法 :应用 CSA对 34例儿童再障行免疫抑制治疗 (IS) ;部分重型再障(SAA)加用抗胸腺细胞球蛋白 (ATG)或大剂量免疫球蛋白 (HDIG) ,均以雄性激素作为辅助治疗。结果 :基本治愈 4例 ,缓解 1 1例 ,明显进步 8例 ,总有效率为 6 7.6 5 % ;其中 2 9例 SAA总有效率为 6 5 .5 2 % ,1 8例慢性重型再障 (SAA- )有效率为5 5 .5 6 % ;1 1例急性再障 (SAA- )总有效率达 81 .82 % ,单项资料对比分析结果显示SAA的年龄 ,性别和治疗前外周血象等因素与 CSA有效率无关 ;但病程较短者 (<1 2个月 )有效率较高 ;CSA与 ATG等行联合 IS则有效率可明显提高。结论 :CSA为治疗儿童再障的有效方法之一 ,SAA拟选用联合 IS,雄性激素为 CSA的有效辅助治疗     

网织红细胞正常儿童再生障碍性贫血6例诊治分析

目的 探讨网织红细胞正常儿童再生障碍性贫血(AA)的临床诊治方法.方法 回顾性分析2006年4月到2008年12月收治的网织红细胞正常的6例儿童AA的临床资料,检测患儿外周血血常规和网织红细胞参数变化.包括网织红细胞百分率(Ret%)、绝对数(Ret#),并计算网织红细胞生成指数(RPI).观察加用小剂量糖皮质激素治疗后的疗效.结果 试用小剂量糖皮质激素后.4例慢性再生障碍性贫血(CAA)患儿明显好转,2例莺型再生障碍性贫血(SAA)患儿无效.结论 部分AA患儿网织红细胞在正常范围,包括SAA及CAA,诊断再障需全面参考诊断标准;小剂量糖皮质激素治疗网织红细胞正常AA的疗效尚需进一步观察.     

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目的评价免疫调节T细胞和细胞因子在再生障碍性贫血(再障)细胞免疫功能紊乱中的作用。方法2004-02—2005-06中山大学第二附属医院采用流式细胞术检测27例特发性再障患儿骨髓及外周血淋巴细胞亚群和CD 4CD2 5T细胞水平,ELISA检测骨髓转化生长因子(TGFβ-1)和F lt-3L水平,并与正常儿童对照。结果与对照组比较,初诊再障患儿外周血和骨髓CD 8T细胞均显著增高(P<0.05),重型再障(SAA)组伴外周血CD3-CD 56NK细胞及骨髓B细胞显著下降(P<0.05)。初诊SAA组骨髓CD 4CD 25T细胞[(7.5±3.4)%]显著高于对照组[(4.3±0.9)%,P<0.05],初诊SAA组及轻型再障(MAA)组骨髓CD 4CD2 5/CD 4比值分别为(28.9±11.1)%和(28.2±9.4)%,均显著高于对照组[(17.4±0.9)%,P均<0.05],骨髓TGFβ-1分别为(2.2±1.7)μg/L和(2.0±0.6)μg/L,均较对照组[(4.4±0.9)μg/L]显著降低(分别为P<0.01、P<0.05),而F lt-3L水平分别为(1031.1±321.8)ng/L和(694.7±424.7)ng/L,均较对照组[(63.0±37.5)ng/L]显著增高(P均<0.01)。缓解期SAA儿童除外周血CD8 T细胞仍较对照组显著增高外,其余上述指标均接近正常水平。相关分析显示,骨髓CD4 CD 25T细胞与CD 3CD 4T细胞呈显著正相关(r分别为0.495、0.540,P<0.01);F lt-3L与骨髓CD 3、CD 4、CD 8T细胞及CD 4CD 25T细胞均呈显著正相关(r分别为0.732、0.542、0.688、0.405,P分别<0.01、0.01、0.01、0.05),而TGFβ-1与骨髓CD 8T细胞和F lt-3L水平呈显著负相关(r分别为-0.431、-0.482,P分别<0.05、<0.01)。结论儿童再障发病与CD 4CD 25T细胞数量缺乏无关,骨髓TGFβ-1水平显著降低和F lt-3L水平显著增高可能在再障儿童T淋巴细胞数量增多和功能紊乱中起重要作用。     

极量踏车运动负荷试验对心脏病患儿心脏贮备功能的评价

目的　探讨心电图极量踏车运动负荷试验评价儿童心血管病患者心脏贮备功能的价值。方法　采用分级递增运动试验 ,对 2 0 0 2年 5月至 2 0 0 3年 2月湖南省邵阳市中心医院 2 6例心脏病患儿和 6 4例健康儿童进行心电图极量踏车运动负荷试验。结果　 (1)心脏病组静息心率、极量心率与心率贮备分别为 (84± 18) /min、(14 9±17) /min和 (6 9± 2 4 ) /min ;对照组静息心率、极量心率与心率贮备分别为 (83± 13) /min、(176± 18) /min和 (92± 2 0 ) /min。两组静息心率差异无显著性 (P >0 0 5 ) ,但极量心率与心率贮备差异有显著性 (P <0 0 0 1) ;(2 )两组运动血压无明显差别 (P >0 0 5 ) ;(3)心脏病组运动耐量 (METs)小于对照组 (P <0 0 0 1) ;(4)心律失常发生率心脏病组为 6 / 2 6例 (占 2 3 1% ) ,对照组为 2 / 6 4例 (占 3 1% ) ,差异有显著性 (P <0 0 1) ;(5 )运动试验阳性率心脏病组为 13/ 2 6例 (占 5 0 % ) ,对照组为 4 / 6 4例 (占 6 2 % ) ,差异有显著性 (P <0 0 0 1)。结论　心脏病患儿心力贮备低于正常健康儿童 ;心力贮备主要受心率贮备影响     

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     

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.     

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.     

Resurgence of measles in Singapore: profile of hospital cases

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 (相似文献   

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.     

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.     

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.