激素大剂量短程疗法治疗重症肌无力远期疗效

目的：探讨肾上腺皮质激素大剂量短程疗法治疗小儿重症肌无力（MG）的远期疗效。方法：MG患儿45例作为甲基泼尼松冲击治疗组（简称治疗组），17例作为泼尼松长程治疗组（简称对照组）。结果：两组比较，近期疗效差异无显著意义（P＞0．05），平均疗效出现时间差异有显著意义（P＜0．01），类固醇副作用差异有显著意义（P＜0．01）。随访2－5年，两组复发率差异有显著意义（P＜0．05）。结论：激素大剂量冲击短程疗法与长程疗法近期疗效相似，但短程疗法起效快，类固醇副作用小，复发率低。     

先心病患儿心脏手术前后血清神经元特异性烯醇化酶、脑干听觉诱发电位检测的意义

目的 评价脑干听觉诱发电位（BAEP）和血清神经元特异性烯醇化酶（s-NSE)在小儿先心病（CHD）心脏手术前后检测的意义。方法 1．测定体外循环开放式不停跳手术的CHD患儿20例手术前后BAEP的变化；2．测定心脏不停跳、停跳手术患儿各20例术前24h、术后2h、7d的s-NSE水平。结果 1．CHD患儿与对照组比较和手术前或后紫绀型先心病（CCHD）和非紫绀型先心病（NCCHD）比较，CCHD组Ⅲ-Ⅳ、Ⅰ－Ⅴ波和I－V波峰间潜伏期（IPL）显著延长（P＜0．05）。2．手术组术后2h血s-NSE水平显著增高，不停跳组和停跳组平均值与术前比较差异非常显著（P＜0．001）；术后7d s-NSE水平上述两组与术前比较差异显著（P＜0．05）。3．术后2h s-NSE水平停跳组明显高于不停跳组（P＜0．001），且术后7d s-NSE水平两组比较差异显著（P＜0．05）。结论 1．CCHD可伴随脑功能损害；2．s-NSE的变化可提示体外循环手术过程中的脑功能受损；3．就脑保护而言，心不停跳术式优于停跳术式。     

地塞米松对脑缺氧缺血新生大鼠细胞凋亡抑制蛋白1 mRNA及Caspase-3活性的影响

目的：探讨新生大鼠缺氧缺血性脑损伤（HIBD）后细胞凋亡抑制蛋白1（cIAP1）基因表达、Caspase-3活性的变化及地塞米松（DEX）对其影响，阐明DEX预处理对HIBD神经保护的可能机制。方法：7日龄SD大鼠24只，随机分成DEX组、9g／L盐水组（NS组）、HIBD组、健康对照组。DEX、NS、HIBD组大鼠采用Rice方法制备HIBD模型。DEX和NS组在缺氧缺血前12h腹腔内分别注射DEX、等量9g／L盐水。取HIBD动物模型实验侧大脑半球，采用逆转录-聚合酶链反应（RT-PCR）检测cIAP1基因表达，比色法测定Caspase-3活性。结果：与健康对照组比较，HIBD组大鼠cIAP1基因表达明显下降（P〈O．01），Caspase-3活性明显上升（P〈0．01）。与HIBD组比较，DEX组cIAP1基因表达明显上升，而Caspase-3活性明显下降。结论：脑缺氧缺血可导致cIAP1基因表达下调，Caspaes-3活性升高。DEX能通过上调cIAP基因表达，抑制Caspase-3活性，抑制细胞凋亡，起到神经保护作用。     

保肾康预防过敏性紫癜肾损害的临床研究

目的 探讨保肾录对尿微量白蛋白（mALB）、尿转铁蛋白（TRF）、视黄醇结合蛋白（RBP）、β2－微球蛋白（β2－MG）的影响与预防紫癜性肾炎的价值。方法 88例过敏性紫癜分为一般治疗组和保肾录治疗组，定期观察尿上述四项蛋白与尿白常规的变化。结果 治疗3个月时，对照组与治疗组尿mALB、TRF、β2－MG比较有显著性差异（P＜0．05，P＜0．01，P＜0．01）。治疗6个月时对照组与治疗组尿mALB、TRF比较仍有显著性差异（P＜0．05、P＜0．01）。治疗3、6个月时尿常规异常人数具有显著性差异（P均＜0．05）。结论 保肾康可缩短尿mALB、TRF、β2－MG升高的时间，降低紫癜性肾炎的发生率。     

新生儿窒息呼吸衰竭血浆儿茶酚胺水平临床研究

本文对23例新生儿窒息及呼吸衰竭患儿采用高效液相色谱-电化学检测法测定去甲肾上腺素（NE）和肾上腺素（E），10例正常脐血为对照组，结果显示，窒息及呼衰缺氧可导致交感神经系统活性增强，分泌NE与E明显增多，急性期87．51±35．31pg／ml与恢复期38．55±21．77pg／ml比较差异非常显著（P＜0．01），与脐血56．35±26．82pg／ml比较，P＜0．05。随呼衰加重NE与E水平均增高，Ⅰ型61．44±33．48与Ⅱ型100．4±22．31（P＜0．05）。NE与PO2呈负相关，r＝－0．414，但无统计学差异。     

阿霉素心脏损伤时牛磺酸对心肌组织中元素铁、镁和血清NO含量的影响

将26只新西兰纯种兔，随机分成阿霉素（ADR）组、对照组（NS组）和阿霉素加牛磺酸（Tau）组，兔均于开始用药第12周，测量心脏血液动力学后，取血清检测一氧化氮（NO）含量，取心肌组织测定微量元素铁、镁的含量。结果表明：ADR组、Tau组和NS组之间多项血液动力学指标有显著性差异，对照组铁、镁含量显著高于ADR组（P＜0．05，P＜0．01）；Tau组铁含量显著高于ADR组（P＜0．05）；ADR组和Tau组血清NO含量均明显高于NS组（P＜0．01）。提示阿霉素具有心脏毒性作用，牛磺酸对心脏具有保护作用耐对小脏损伤的修补作用并不理想。     

肾病综合征患儿白色微血栓和血流流变学与肾静脉血栓形成的关系

目的 研究外周微循环白色微血栓和血流流变学变化与肾病综合征（NS）并肾静脉血栓形成（RVT）之间的关系。方法 采用螺旋CT肾静脉连续薄层增强扫描，将100例NS患儿分为Ⅰ组（无RVT，88例）和Ⅱ组（合并RVT，12例）。甲皱微循环下观察白色微血栓。血液流变学指标指标检测按常规方法，包括全血比粘度、血浆比粘度、红细胞电泳、血细胞压积。结果 1．Ⅱ组白色微血栓阳性率明显高于I组（P＜0．01）。2．Ⅰ组、Ⅱ组全血比粘度（高切、低切）、红细胞电泳时间、血细胞压积均显著高于对照组（P＜0．001，P＜0．01）；Ⅱ组全血比粘度（高切、低切）、红细胞电泳时间显著高于Ⅰ组（P＜0．001）。Ⅰ、Ⅱ组血细胞压积无显著性差异（P＞0．05）。Ⅰ、Ⅱ组、对照组血浆比粘度无显著性差异（P＞0．05）。结论 NS患儿外周微循环白色微血栓阳性和血流流变学变化与RVT之间有密切关系。     

母亲妊娠糖尿病及妊高征对新生儿内分泌水平影响的研究

探讨母亲妊娠合并糖尿病及妊高征对高危儿血糖、胰岛素、皮质醇、胰岛素样生长因子1水平（IGF－1）的影响，检测糖尿病组42例，妊高征组144例，健康对照组23例，均于出生24－48小时内采取股静脉血，测定有关内分泌水平。结果显示：（1）糖尿病组胰岛素，皮质醇水平较对照组显著增高，P＜0．05；（2）妊高征组皮质醇水平明显高于对照组，P＜0．05；（3）糖尿病与妊高征二组比较，IGF－1有显著性差异，P＜0．05。结论，妊娠合并糖尿病及妊高均对围产儿内分泌产生影响，可引起血皮质醇水平明显升高，尤其以前者为甚，可以发生高胰岛素血症及血中IGF－1水平升高，胎儿柯兴氏面容、RDS及巨大的发生显著增高，影响围产儿的质量，应引起重视。     

实验室系列检查标在早期诊断过敏性紫癜肾损害的敏感度选择

目的：通过检测过敏性紫癜（HSP）患儿微量白蛋白（MA）、α1－微球蛋白(α1－M）和尿N－乙酰－β-D-氨基－葡萄糖胺酶（NAG）含量及相关实验室指标，观察HSP肾损害早期诊断的敏感性。方法：采用免疫散射速率比浊法和碱性苦味酸速率法对62例HSP患儿进行尿MA、α1－M、NAG排量检测，同时做肾功能、肾B超、尿常规、尿12h Addis计数相关实验室的检查，结合临床及实验室检查指标分析HSP发生肾小管受损的临床意义。结果：1、HSP肾损害占80．60％，尿酶和尿两项特种蛋白、尿12h Addis计数、尿常规、肾功能、肾B超对判断肾损害的敏感性分别为80．60％、76．00％、52．63％、48．39％、8．06％、7．14％；2、HSP患儿尿常规正常组（第1组）与异常组（第2组）间尿两项特种蛋白比较有显著差异性（P＜0．05），对照组与第1、2组分别比较亦有显著性差异（P＜0．05，P＜0．01），对照组NAG含量与第1组比较有显著性差异（P＜0．05）。结论：NAG和尿两项特种蛋白可敏感反映HSP肾损害情况，在某些程度上NAG的敏感性更高，可作为早期诊断HSP肾小管损害的判断指标。     

肝素和硝苯吡啶联合治疗儿童过敏性紫癜的疗效观察

目的：探讨内皮素（ET）在过敏性紫癜（AP）发病中的作用及相应治疗方法。方法：采用放射免疫分析法分别检测62例AP患儿和35例健康儿童血内皮素（PET）、尿内皮素（UET）和尿β2－微球蛋白（Uβ2－M）。用肝素和硝苯吡啶联合治疗32例AP患儿，与常治疗30例患儿对比。结果：AP患儿PET和24h UET水平与病情严重程度有关。AP患儿血、尿ET及Uβ2－M急性期明显高于恢复期（P＜0．01）。AP患儿PET与UET比较无相关性；PET与Uβ2－M呈非常显著正相关；UET与Uβ2－M比较呈非常显著正相关。恢复期AP患儿肝素组PET和UET与常规组比较，P＜0．05。结论：ET参与了AP的发病过程。UET反映了肾脏损害的程度。肝素和硝苯吡啶联合治疗优于常规治疗。     

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.     

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.     

How well are we doing? – Metabolic control in patients with diabetes

OBJECTIVE: To compare the present level of metabolic control in children and adolescents with insulin-dependent diabetes mellitus (IDDM) attending Brisbane paediatric diabetes clinics with published overseas data. METHODOLOGY: Blood HbA1c concentrations, population characteristics, current treatment practices and short-term complications were recorded in all patients, aged 19 years and under, attending the diabetes clinics of the two Brisbane Children's Hospitals or the private practice of one of the authors (MJT) in the first quarter of 1998. RESULTS: Two hundred and sixty-eight patients were assessed (M/F 142/126). Ages ranged from 1 to 19 years (mean 11. 2 years); duration of IDDM was 0-16 years (mean 4.4 years); and 141 (53%) were pubertal. Of those aged less than 13 years, only 4% had more than two injections daily. Insulin doses (U/kg/day) rose with increasing age. Larger doses were required in regimens involving more than two injections per day than those involving one to two injections per day. Ketoacidosis or severe hypoglycaemia in the last 3 months were reported in eight (2.7%) and 17 (6.3%) of patients, respectively. Mean HbA1c (+/- SD) was 8.6 +/- 1.4% (range 5.2-14.0%), with 33% of children having a HbA1c concentration < 8%. HbA1c concentrations were significantly related (P < 0.05) to insulin dose and to duration of diabetes, but not to severe hypoglycaemia, ketoacidosis, age, frequency of injections, or number of clinic visits per year. Mean HbA1c concentration was significantly higher (P < 0.05) in those children in puberty (8.7 +/- 1.5%) than in those not in puberty (8.5 +/- 1.2%). CONCLUSION: Only 33% of patients had a HbA1C concentration less than 8% and 6.3% had a severe hypoglycaemic episode in the 3 months. These results are similar to published overseas data.     

MAINTENANCE OF DIFFERENTIATED FUNCTION OF THE SURFACTANT SYSTEM IN HUMAN FETAL LUNG TYPE II EPITHELIAL CELLS CULTURED ON PLASTIC

We report a simplified culture system for human fetal lung type II cells that maintains surfactant expression. Type II cells isolated from explant cultures of hormone-treated lungs (18-22 wk gestation) by collagenase + trypsin digestion were cultured on plastic for 4 days in serum-free medium containing dexamethasone (Dex, 10 nM) + 8-bromo-cAMP (0.1 mM) + isobutylmethylxanthine (0.1 mM) or were untreated (control). Surfactant protein (SP) mRNAs decreased markedly in control cells between days 1 and 4 of culture, but mRNA levels were high in treated cells on day 4 (SP-A, SP-B, SP-C, SP-D; 600%, 100%, 85%, 130% of day 0 content, respectively) . Dex or cAMP alone increased SP-B, SP-C, and SP-D mRNAs and together had additive effects. The greatest increase in SP-A mRNA occurred with cAMP alone. Treated cells processed pro-SP-B and pro-SP-C proteins to mature forms and had a higher rate of phosphatidylcholine (PC) synthesis (2-fold) and higher saturation of PC (~34% versus 27%) than controls. Only treated cells maintained secretagogue-responsive phospholipid synthesis. By electron microscopy, the treated cells retained lamellar bodies and extensive microvilli. We conclude that Dex and cAMP additively stimulate expression of surfactant components in isolated fetal type II cells, providing a simplified culture system for investigation of surfactant-related, and perhaps other, type II cell functions.