先天性肾盂输尿管连接部梗阻患儿积水肾脏中水通道蛋白1-4的表达

目的 观察先天性肾盂输尿管连接部梗阻患儿积水肾脏中水通道蛋白l-4(aquaporin,AQP1-4)的表达及其与积水程度之间的关系.方法 收集22例接受肾盂成形术和肾造瘘术的先天性肾盂输尿管连接部狭窄(pyeloureteral junction obstruction,PUJO)患儿的肾组织标本,并将其按照静脉肾盂造影(intravenous pyelography,IVP)显影时间的长短分为两组.轻度肾积水组(10例;IVP60min内显影)和重度肾积水组(12例,IVP 60min内不显影).8例正常肾组织标本来自于肾母细胞瘤周围正常肾组织.免疫组织化学技术检测AQPl-4在正常肾脏和积水肾脏中的表达与定位.逆转录聚合酶链反应(RT-PCR)检测AQP1-4 mRNA在正常肾脏和积水肾脏中的表达水平.结果 AQP1阳性着色主要分布于肾小球毛细血管内皮细胞、近曲小管的上皮细胞及髓袢降支细段上皮细胞胞质,AQP2阳性着色主要分布于肾脏集合管上皮细胞胞膜和胞质,AQP3阳性着色主要分布于肾脏集合管主细胞的基底侧,AQP4阳性着色主要分布于肾内髓集合管上皮细胞基底侧.而积水肾脏AQP1-4表达均有不同程度下降.RT-PCR显示重度肾积水中AQPl-4的相对表达量显著低于轻度肾积水和正常对照组(AQP1:0.194±0.118比0.598±0.092比0.858±0.122;AQP2:0.247±0.089比0.566±0.105比0.976±0.134;AQP3:0.426±0.126比0.741±0.074比1.006 ±0.084;AQP4:0.171±0.115比0.420±0.081比0.739±0.201;P＜0.01).结论 AQP1-4在先天性PUJO患儿积水肾组织中的表达水平降低,且随着积水程度的加重而下降,表明其在肾积水发展的过程中可能与肾脏浓缩稀释功能的下降有一定的关系.     

先天性肾积水肾脏及其尿液中水通道蛋白2表达的相关性研究

目的 探讨先天性肾积水患儿肾脏水通道蛋白2(aquaporin-2,AQP2)表达水平及其尿液AQP2表达水平之间的相关性.方法 选取20例单侧先天性肾盂输尿管连接处梗阻肾积水肾脏,其中轻度和重度积水肾脏各10例,并选取8例正常肾脏作为对照组.应用免疫组织化学方法检测肾脏AQP2表达水平,并采用酶联免疫吸附法(ELISA)检测其尿液中AQP2浓度.结果 AQP2阳性着色位于肾脏集合管主细胞胞膜和胞质.积水肾脏AQP2表达水平下降和其尿液中AQP2表达水平下降及尿渗透压下降相一致.重度积水组显著低于轻度积水组,重度和轻度积水组均显著低于正常对照组(P＜0.05).积水肾脏AQP2表达水平与其尿液AQP2表达水平以及尿渗透压均有显著正相关性(分别为r尿AOY2=0.706,P＜0.05;r尿渗透压=0.810,P＜0.05).结论 随着先天性.肾积水患儿积水程度增加,其肾脏AQP2表达水平和其尿液AQP2浓度及尿渗透压均明显下降.检测尿液AQP2浓度可间接反映肾脏中AQP2的表达情况,为临床评估肾脏浓缩稀释功能损害程度提供依据.     

先天性肾积水患儿肾脏水通道蛋白表达与肾实质厚度和肾小球滤过率的相关性

目的：探讨先天性肾积水患儿肾脏水通道蛋白AQP1-4 的表达与肾实质厚度和肾小球滤过率（GFR）变化之间的关系。方法：利用Western blot检测AQP1-4蛋白在10例先天性肾积水患儿(年龄62.3±18.3个月)10个肾组织和6例来自肾母细胞瘤手术切除患儿的正常肾脏组织(年龄62.7±17.1个月)中的相对表达量。同时对患侧肾脏肾实质厚度和GFR进行评估。积水肾脏AQP1-4表达与GFR以及肾实质厚度之间进行Pearson相关分析检验。结果：肾积水组AQP1-4蛋白相对表达均明显低于正常组（P＜0.05）。B超测量术前积水侧肾脏肾实质厚度平均为4.59±2.25 mm。99mTc-DTPA 测定积水侧肾脏GFR较对侧肾脏明显下降（40±12 mL/min vs 105±20 mL/min, P＜0.05）。积水组肾脏中AQP1-4蛋白相对表达量与肾实质厚度之间呈正相关,与患侧肾脏GFR之间亦呈正相关。积水侧肾脏肾实质厚度与GFR之间呈正相关。结论：先天性积水患儿肾脏AQP1-4蛋白表达下降,其表达量与肾实质厚度和肾脏GFR的变化呈正相关。     

细胞间和血管细胞粘附分子-1在先天性肾积水肾组织中的表达

目的研究中、重度小儿先天性肾积水肾组织中细胞间粘附分子1(ICAM1)、血管细胞粘附分子1(VCAM1)的表达,并分析它们之间的关系。方法应用免疫组织化学技术(SP二步法),对53例中、重度小儿先天性肾积水的肾组织及9例正常对照肾组织行染色,观察ICAM1、VCAM1在肾组织不同部位的表达情况。结果正常对照肾组织中ICAM1呈轻度表达,中、重度小儿先天性肾积水肾组织中的表达明显增高,有显著性意义(P<0.01);除对照组肾小球表达呈阴性外,VCAM1在正常对照组及积水组均有微弱表达,两组之间差异无显著性意义(P>0.05);相关性分析显示,ICAM1和VCAM1无论在积水组还是在对照组都无相关性(分别为r=0.34,P>0.05;r=-0.25,P>0.05)。结论中、重度小儿先天性肾积水ICAM1在肾组织的表达水平明显增高,提示ICAM1在肾积水的病理发展过程中可能起重要作用,可作为中、重度肾积水导致肾功能损害的临床评价指标。     

尿液AQP2在先天性肾积水患儿中的检测和意义

目的研究单侧先天性肾盂输尿管连接处梗阻（pyeloureteric junction obstruction，PUJO）肾积水患儿尿液水通道蛋白2（Aquaporins-2，AQP2）测定在肾脏浓缩功能评价中的意义。方法选取12例正常儿童，26例单侧先天性PUJO肾积水患儿，其中轻度14例，重度12例，均经彩超、静脉。肾盂造影证实，并排除其它泌尿系统疾病；在严格设定条件下，收集正常对照组术前和梗阻解除术后第3天患肾24h尿液，同时收集术中。肾盂尿液，测定尿渗透压，并用酶联免疫吸附法（ELISA）测定尿液中AQP2。结果与正常对照组比较，积水组术中尿液AQP2和尿渗透压明显下降（P〈0．05），且重度积水组术中尿液AQP2与轻度积水组相比，明显降低（P〈0．05），但重度积水组和轻度积水组术中尿渗透压相比无显著差异（P〉0．05）；梗阻解除后，轻、重度积水组术中尿液AQP2与术后第3天相比，无显著差异（P〉0．05），而术后第3天两组尿渗透压却明显下降／P〈0．05），术后第3天重度积水组与轻度积水组尿液AQP2和尿渗透压相比较，显著下降（P〈0．05）；正常对照组与轻、重度积水组术后第3天尿液AQP2和尿渗透压之间存在一定相关性。结论小儿单侧先天性PUJO尿液AQP2和尿渗透压较正常对照组显著降低，且二者之间存在一定相关性。尿液中AQP2下降可能和尿液浓缩功能改变有关。     

轻度肾积水儿童肾脏水通道蛋白2、3和4的表达

目的探讨水通道蛋白2、3、4（AQP2～4）在儿童轻度积水肾脏（HnK）的表达。方法收集6例来自肾母细胞瘤周围的正常肾脏组织标本为对照组（男2例,女4例;平均60.33个月）,12例轻度肾积水患儿（男5例,女7例;平均14.58个月）的HnK标本为积水组（B超示集合系统分离均〈3.5cm,肾实质轻度变薄）。采用免疫组织化学法检测AQP2～4在正常肾脏和HnK中的定位及其表达情况。结果正常肾脏AQP2阳性着色主要分布于肾脏集合管上皮细胞胞膜和胞质,AQP3阳性着色主要分布于肾脏集合管主细胞的基底侧,AQP4阳性着色主要分布于肾内髓集合管上皮细胞基底侧。HnK中AQP2～4的表达阳性率均明显低于对照组（Pa〈0.05）。结论AQP2～4在儿童HnK组织中表达明显降低,提示AQP2～4的表达降低可能是引起HnK形态功能改变的早期因素之一。     

先天性肾积水转化生长因子转录水平的研究

目的：检测先天性肾积水患肾转化生长因子β1（TGF－β1）mRNA表达的改变，探讨TGF－β1在小儿先天性肾积水肾损伤中的作用及其临床意义。方法：采用RT－PCR技术检测15例先天性肾积水患儿患肾实质组织，肾盂组织，肾盂输尿管狭窄段组织TGF－β1mRNA的表达，经凝胶分析系统半定量，和10例正常肾，肾盂及输尿管对照.结果：患肾组织，肾盂及肾盂输尿管狭窄段中TGF－β1mRNA的表达增高，结论：先天性肾积水患儿患肾组织TGF－β1表达增高，TGF－β1表达的增高可能和先天性肾积水所致的慢性肾损伤及间质纤维化有关。     

先天性肾积水患儿尿液水通道蛋白1表达的意义

目的研究先天性肾积水患儿尿液水通道蛋白1(AQP1)的表达情况及其临床意义。方法选取26例不同程度肾积水患儿作为试验组。其中轻度组7例,中度组10例,重度组9例。均经彩超、电子计算机X射线断层扫描技术(CT)或MRI证实,并排除其他泌尿系统疾病。对照组选取10例无泌尿系统疾病的儿童。在严格选定条件下,收集试验组患儿术前晨尿、术中肾盂尿液、梗阻解除术后第3、7天患肾晨尿,同时收集对照组患儿晨尿,采用间接ELISA法测定其尿液AQP1水平。结果与对照组比较,中、重度积水组患儿术前尿液中AQP1水平均明显下降(Pa<0.05),且重度积水组尿液AQP1水平与中度积水组比较,明显降低(P<0.05);轻度积水组与对照组比较,差异无统计学意义(P>0.05)。试验组术后第3天尿液AQP1水平与术中比较,差异无统计学意义(P>0.05),术后第7天尿液AQP1水平与术中比较均明显上升,但仍低于对照组(Pa<0.05)。对照组、试验组术前及术后第7天尿液AQP1水平与尿渗透压呈正相关,实验组术中及术后第3天尿液AQP1水平和尿渗透压之间无相关性。结论尿液AQP1水平可能是新型的评价先天性肾积水患儿肾浓缩功能的指标之一。     

小儿肾积水肾盂成形术后尿理化性质和尿水通道蛋白2改变的研究

目的 探讨小儿单侧先天性肾盂输尿管连接处梗阻(pyeloureteric junction obstruction,PUJO)肾积水术后1周内尿理化性质和尿水通道蛋白2(aquaporins-2.AQP2)的变化.方法 选取14例符合Grignon法四、五级标准的小儿单侧先天性PUJO.肾积水患儿;经肾盂成形术后给予严格设定的补液标准,收集术后第一、三、五、七天积水侧肾脏和对侧无积水肾脏24 h尿液,分别测定排尿量、渗透压、Na+和肌酐,并用酶联免疫吸附法(ELISA)测定尿液中AQP2水平.结果 相对于对侧无积水肾脏,积水侧肾脏梗阻解除术后1周内尿液AQP2显著降低.尿量明显增多.尿渗透压显著降低,Na+排泄分数显著增加;同时术后1周内双侧肾脏尿液AQP2、排尿量和尿渗透压有升高趋势,而积水侧肾脏Na+排泄分数有减少的趋势;积水侧.肾脏术后第五、七天的尿液AQP2.排尿量和尿渗透压较第一天均显著增加(P<0.05).对侧无积水肾脏术后第五、七天的尿液AQP2和尿渗透压较第一天也显著增加(P<0.05).其余指标在术后小同天数之间差异无统计学意义(P>0.05).结论小儿单侧先天性PUJO解除术后1周内积水侧.肾脏的尿液AQP2和尿渗透压均较对侧尤积水肾脏尿液显著减少.提示梗阻解除后尿液中AQP2可能和尿液浓缩能力改变有关.     

小儿肾孟输尿管交接处梗阻所致巨大肾积水的治疗

目的 探讨小儿先天性肾孟输尿管交接处梗阻所致巨大肾积水的治疗方式。方法 对12例小儿巨大肾积水的治疗方式、肾切除指标进行分析。结果 2例行肾切除术，10例行肾盂成形术。结论 小儿巨大肾积水应尽可能保留肾脏，对重度积水者先行肾造瘘术，如肾功能恢复至Ⅱ期，行肾盂成形术，如肾功能不能恢复，则再行肾摘除术。     

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.     

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   

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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.     

A profile of respiratory symptoms in urban and rural South Australian school children

This report describes the cross-sectional analyses of data from the first year of a longitudinal study using questionnaire and respiratory function data over a 5 year period from a sample of rural South Australian school children. The cumulative or lifetime prevalences of respiratory symptoms were estimated in 825 rural and 1261 urban school children aged between 5 and 15 years in order to determine if the prevalence rates differed between rural and urban school children. The study found the overall cumulative prevalence of asthma and/or wheezy breathing (AWB) to be 24.1% in the rural school children compared to 27.6% in the urban school children. Most children developed AWB symptoms before the age of 7 years, with 20% reporting moderately severe symptoms and 10% having more than one attack per fortnight. The cumulative prevalence of bronchitis, loose/rattly cough (BLRC) differed significantly between the rural school children (34.1%) and urban school children (47.9%). The BLRC symptoms preceded the development of AWB in many cases. Urban school children also reported a higher prevalence of atopic conditions.     

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.     

Hauttemperaturen verschiedener Körperoberflächenareale des Rumpfes bei Säuglingen

Summary In two groups of infants (3–53 weeks old) skin temperatures were controlled in different areas of the trunk—i.e.: regions of sternum, lungs, heart, liver, spleen, kidneys—at different room-temperatures (group I: 21–25°C; group II: 29–32°C). Rectal temperatures of some probands in both groups also had been controlled simultaneously. A definite change in the reaction to heat was proofed in different periods of the first year of life. In higher environmental temperatures the skin temperature was almost constant at every controll-point of the skin, even in older infants. In lower environmental temperatures the skin temperatures lowered continuously with age till 7. to 9. moth. From 10. to 12. month the lowering of skin temperature discontinued. The rectal temperatures were relatively constant in all infants. Only in infants from 7. to 12. month, whose skin temperatures were controlled in lower as well as in higher environmental temperatures, a tendency to higher rectal temperatures was proofed in warmer environmental temperatures.The significance of these results is discussed.

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Untersuchungen mit Unterstützung durch die Deutsche Forschungsgemeinschaft.