扩张型心肌病36例临床特点和治疗策略

目的 探讨小儿扩张型心肌病(DCM)的临床特点、治疗方法、疗效及转归.方法 对北京安贞医院儿科临床诊断为DCM的36例患儿进行综合分析,包括临床表现、血清学、ECG、胸部X线检查、超声心动图、药物选择、疗效及转归.结果 36例患儿入院时均已出现心脏扩大伴心力衰竭的症状和体征.心功能Ⅱ级11例,心功能Ⅲ级17例,心功能Ⅳ级8例.临床症状以水肿最为常见(16例,44.4％),其次为气促15例(41.6％)和纳差15例(41.6％);初始症状多表现为心悸(7例,19.4％)和呼吸道感染(7例,19.4％).心尖部杂音为最常见体征[25例(69.4％)],其次为肝大[23例(63.9％)].17例患儿检测血肌钙蛋白I(cTnI)水平,其中13例增高;CK-MB增高17例.ECG以异位搏动、异位心律和房室传导阻滞常见.超声心动图显示36例患儿左心室舒张末内径均有不同程度扩大(100.0％),31例(86.1％)左心室射血分数＜50％.左心室内附壁血栓1例,肺动脉高压7例.36例患儿均应用利尿剂、血管紧张素转换酶抑制剂、强心药治疗;17例心动过速、心律失常的患儿加用β受体阻滞剂治疗,4例并房性心动过速、心房颤动者用胺碘酮;16例患儿予IVIG,其中4例重症患儿联合激素治疗.33例患儿临床表现得到控制,3例未愈自动出院.结论 小儿DCM常见于婴儿、学龄前和学龄儿童.临床确诊时已有心功能不全、心脏扩大、快速性心律失常;联合β受体阻滞剂、胺碘酮治疗可改善心功能.     

儿童扩张型心肌病临床特征分析

目的了解儿童扩张型心肌病(DCM)临床特点和死亡相关因素。方法对2006—2011年115例DCM患儿临床资料进行整理分析。结果 115例患儿中,男70例(61%),女45例(39%);起病年龄1～180个月,平均(37.61±4.84)个月,起病≤1岁者占54%(62/115);初诊心功能Ⅲ～Ⅳ级者62.5%(72/115)。左室射血分数、左室缩短分数在心功能Ⅰ～Ⅱ级组[(33.0±7.9)%、(16.1±4.4)%]明显高于Ⅲ～Ⅳ级组[(29.2±7.5)%、(13.6±3.8)%](P<0.05);起病年龄≤1岁、～10岁、>10岁三组患儿经体表面积标准化的左房内径、左心室舒张末期内径、左心室收缩末期内径逐渐减小;Ⅲ～Ⅳ级组的cTnI、CK、CK-MB值均明显高于心功能Ⅰ～Ⅱ级组(P<0.05)。确诊时心功能级数(P<0.01)、左室射血分数(P<0.05)、左室缩短分数(P<0.05)是扩张型心肌病死亡相关因素。结论儿童扩张型心肌病确诊时≤1岁患儿最多,多为心功能Ⅲ～Ⅳ级,初诊年龄及心功能级别对患儿预后有明显影响;DCM患儿初诊心功能评估、超声心动图心功能参数可作为预测病情的指标。     

Q-T、校正Q-T离散度对小儿扩张型心肌病 预后判断价值探讨

目的探讨Q-T离散度(Q-Td)及校正Q-T离散度(Q-Tcd)对判断小儿扩张型心肌病(DCM)预后的价值。方法检测29例DCM患儿(其中好转者16例定为Ⅰ组,恶化、死亡者13例定为Ⅱ组)及30例同年龄组正常儿童的心电图Q-T间期、校正Q-T(Q-Tc)间期及Q-Td、Q-Tcd。结果①Ⅰ组心功能分级主要为Ⅱ级,占63％,Ⅱ组均为Ⅳ级,占100％;ST-T下移及室性心律失常Ⅰ组分别占31％、0,Ⅱ组分别占100％、38％。②Ⅰ组、Ⅱ组与对照组Q-Td、Q-Tcd分别比较均有显著差异(P＜0.01);Ⅱ组比Ⅰ组Q-Td增大,但无统计学意义(P＞0.05);Ⅱ组与Ⅰ组Q-Tcd比较有显著差异(P＜0.05)。结论DCM患儿Q-Td、Q-Tcd增大;Q-Tcd比Q-Td能更准确地反映心肌复极离散程度;DCM患儿Q-Td、Q-Tcd增加显著者可能与其预后不良有关。     

慢性心力衰竭患儿血清半乳糖凝集素-3变化及临床意义

目的探讨慢性心力衰竭(CHF)患儿血清半乳糖凝集素-3(galectin-3)变化及其与左心室重构的相关性。方法选取CHF患儿45例,按心衰严重程度分为心功能Ⅱ级组、Ⅲ级组和Ⅳ级组;按原发疾病分为心内膜弹力纤维增生症(EFE)组和扩张型心肌病(DCM)组;30例健康体检儿童为对照组。采用酶联免疫吸附法(ELISA)测定血清galectin-3水平,放射免疫分析法测定NT-pro BNP,超声心动图测定左心室重构指标。分析血清galectin-3与左心室重构和NT-pro BNP的相关性。结果 45例CHF患儿中,男19例、女26例,年龄(3.42±1.89)岁。心功能Ⅱ级组10例,Ⅲ级组18例和Ⅳ级组17例;EFE组21例,DCM组24例。心功能Ⅱ级、Ⅲ级、Ⅳ级组患儿的血清galectin-3及NT-pro BNP水平均高于对照组,差异有统计学意义(P均0.05),不同心功能分级组两两比较差异均有统计学意义(P?0.05)。EFE和DCM两组间血清galectin-3水平差异无统计学意义(P?0.05)。Spearman秩相关分析结果显示,CHF患儿的血清galectin-3水平与左心室舒张末径、左心质量、左心质量分数及血清NT-pro BNP水平呈正相关(P均0.05),与左室射血分数、左室短轴缩短率均呈负相关(P均0.05)。结论血清galectin-3有助于对儿童CHF的临床诊断和病情评估。     

扩张型心肌病患儿血清心肌肌钙蛋白测定的意义

目的观察扩张型心肌病(DCM)患儿心功能不全时血清心肌钙蛋白水平变化,并分析其与预后的关系。方法采用酶联免疫吸附法对56例DCM患儿进行血清心肌肌钙蛋白测定。结果心功能Ⅳ级患儿组血清心肌肌钙蛋白水平(0.53±0.31)μg/L明显高于心功能Ⅲ级组(0.45±0.27)μg/L,而心功能Ⅲ级患儿组明显高于心功能Ⅱ级组(0.29±0.27)μg/L,差异具有显著意义。结论血清心肌肌钙蛋白水平随DCM患儿心功能不全发展渐升高,且与心功能不全程度呈正相关,有助于预后判断。     

家族性扩张型心肌病的分子遗传学研究进展

扩张型心肌病(dilated cardiomyopathy,DCM),是除支气管肺炎及重症心肌炎并发心力衰竭(心衰)以外导致患儿心力衰竭的主要病因,临床表现为进行性心衰、心律失常、血栓栓塞、甚至猝死,至今尚无特异性治疗方法,预后差.     

心肌致密化不全25例

目的 总结小儿心肌致密化不全(NVM)的临床特征,以提高对该病的认识及诊治水平.方法 回顾性分析2005年1月- 2010年12月在本院住院的25例NVM患儿的临床表现、心脏彩超、ECG等辅助检查结果及治疗、随访情况.结果 25例患儿中有心功能不全表现者19例(76％);有心律失常者7例(28％),其中室性快速心律失常4例(16％);均未发现心内膜血栓形成.25例患儿彩色多普勒超声心动图均见典型的NVM改变,左心室受累23例(92％),右心室受累2例(8％);心脏扩大24例(96％),左心室射血分数＜50％ 20例(80％).住院前误诊为扩张型心肌病(DCM)3例,心内膜弹力纤维增生症(EFE)1例.随访0.4 ～5.6a,6例患儿死于顽固性心力衰竭,1例患儿猝死,4例失访.结论 小儿NVM的临床表现多以心功能不全及室性快速心律失常为主,极少形成心内膜血栓.小儿NVM易误诊为DCM、EFE等,彩色多普勒超声心动图在该病的诊断及鉴别诊断中具有重要价值.小儿NVM尚缺乏有效的治疗方法,预后差.     

心血管疾病患儿血浆环核苷酸浓度测定及其临床意义

本研究应用放射免疫学方法时6个月～12岁132例正常小儿,6D例充血性心力衰竭(心衰),47例忠性肾炎高血压和27例病毒性心肌炎所致心律失常患儿血浆环—磷酸腺苷(cAMP),环—磷酸鸟苷(cGMP)浓度进行了测定,发现心衰患儿 cAMP 和 cGMP 显著增高,且与心衰严重程度里显著正相关。心功能Ⅲ级与Ⅳ级之间 cAMP 无显著差异。提示严重充血性心衰时,心肌细胞内 cAMP 产生相对不足;肾炎高血压患儿 cAMP 基本正常,而 cGMP 显著升高;心律失常(包括频发房早,频发室早、阵发性房性,结性和室性心动过速,患儿 cAMP 正常,阵发性室上性和室性心动过速患儿 cGMP显著升高,而房早和室早患儿的 cGMP 正常。说明环核苷酸系统在小儿心衰,肾炎高血压和心律失常的发生发展中具有重要作用,为儿科临床应用环核苷酸类制剂提供了重要依据。     

慢性心力衰竭患儿血浆肾上腺髓质素和C型利钠肽的变化

目的 探讨慢性心力衰竭(CHF)患儿血浆肾上腺髓质素(ADM)和C型利钠肽(CNP)水平变化及其临床意义.方法 42例CHF患儿心功能按修订Ross和Reithman评分系统,心功能Ⅱ级(3～6分)16例、Ⅲ级(7～9分)14例、Ⅳ级(10～12分)12例,对照组11例.采用同位素放射免疫分析法测定血浆ADM和CNP水平,超声心动图测定左心室射血分数(LVEF)及E/A值.结果 1.对照组血浆ADM为(74.39±53.99)ng/L,CNP为(92.59±59.46)ng/L;CHF组血浆ADM为(218.27±106.53)ng/L,CNP为(190.27±108.38)ng/L,两组比较均有显著差异(P均=0).2.血浆ADM水平与CHF严重程度呈正相关,不同心功能级别患儿血浆ADM水平排序为Ⅱ级＜Ⅲ级＜Ⅳ级,分别与对照组比较显著差异性(P均＜0.05).心功能Ⅳ级和Ⅱ、Ⅲ,Ⅲ、Ⅳ级和对照组血浆CNP水平比较有显著差异(P均＜0.05);而心功能Ⅱ级和对照组、Ⅱ和Ⅲ级血浆CNP水平比较差异均无显著意义(P均＞0.05).3.血浆ADM水平升高与LVEF呈负相关(r=-0.69 P＜0.001),与E/A呈正相关(r=0.34P＜0.01);血浆CNP水平升高与LVEF呈负相关(r=-0.48 P＜0.001),与E/A无相关(r=0.27 P＞0.05).结论 ADM和CNP在CHF时发挥防御和代偿作用.ADM有可能成为评估小儿CHF严重程度和预测CHF预后新的生化指标.     

氢氯噻嗪、依那普利、美托洛尔、螺内酯联合治疗扩张型心肌病疗效评估

目的研究氢氯噻嗪、依那普利、美托洛尔、螺内酯联合治疗扩张型心肌病(DCM)的疗效。方法DCM患儿23例,纽约心脏病协会(NYHA)心脏功能Ⅲ-Ⅳ级,确诊病例予氢氯噻嗪、依那普利、螺内酯口服,心功能Ⅳ级者加用小剂量地高辛口服,顽固性心衰患儿加用多巴胺、多巴酚丁胺静滴。心功能改善到Ⅱ-Ⅲ级时加用美托洛尔口服,2-4周将依那普利、美托洛尔剂量加倍,每2-4周抽血观察肾脏功能和血清钾。服药后1、3、6、12、24个月随访患儿.病情恶化者再次住院治疗。各随访阶段均判断心脏功能,检查同步12导联体表心电图(12-ECG)、二维超声心动图(2-DE),用2-DE测量患儿左心房(LA)、左心室(LV)内径及左室射血分数(EF)、短轴缩短率(FS)。结果随访1-26个月,病例均遵医嘱用药。随访死亡3例,死因为严重肺部感染、窒息。12-ECG示心房纤颤2例,未使用抗心律失常药物治疗,6个月后自行转复为窦性心律,每2-4周观察肾脏功能和血清钾结果正常。治疗前EF、FS分别为(42.45±13.07)%和(21.14±8.06)%,用药后随访3个月时接近60%和30%,12个月时>60%和.30%;LA、LV内径治疗前分别为(28.96±8.54)mm及(46.09±14.09)mm,随访3个月时(26.00±0.01)mm及(40.50±212)mm,治疗3个月后LA、LV明显缩小(t=-2.892,-4.509P<0.05,0.01)。结论联合应用氢氯噻嗪、依那普利、美托洛尔、螺内酯治疗小儿DCM能明显延缓或防止心肌重塑进展,改善心脏功能,提高生存质量。     

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.