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Mevalonic Aciduria in a Child Featuring Hepatic Fibrosis and Novel Mevalonate Kinase Mutations 以肝纤维化和新型甲戊酸激酶突变为特征的儿童甲戊酸尿症
Pub Date : 2009-06-03 DOI: 10.2174/1874309900903010045
M. Harel-Meir, Y. Bujanover, Y. Berkun, N. Goldstein, Y. Anikster
Mevalonic aciduria (MVA) is an inborn error of isoprene biosynthesis caused by mevalonate kinase (MVK) gene mutations. Described below is a case of a Palestinian MVA patient suffering from prolonged fevers as well as from hepatic fibrosis - a rare feature of MVA. Also demonstrated is a unique genotype - heterozigosity of two novel MVK mu- tations; V8F (t25a), and F38I (t112a).
Mevalonic aciduria (MVA)是由Mevalonic kinase (MVK)基因突变引起的先天性异戊二烯生物合成错误。下面描述的是一个巴勒斯坦MVA患者长期发烧以及肝纤维化的病例- MVA的罕见特征。同时还证实了两个新的MVK突变具有独特的基因型异质性;V8F (t25a)和F38I (t112a)。
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引用次数: 4
Distinguishing Environmental Causes of Immune Dysfunction fromPediatric Triggers of Disease 区分儿童疾病触发免疫功能障碍的环境原因
Pub Date : 2009-06-02 DOI: 10.2174/1874309900903010038
R. Dietert
Many pediatric diseases are linked to underlying immune dysfunction that produces problematic responses to common infectious challenges and other conditions. During childhood, immune dysfunction manifests as: 1) increased susceptibility to certain infections, 2) misregulated inflammation with tissue damage, fatigue and secondary infections, 3) autoimmune disease and 4) allergic conditions. Both environmental and genetic risk factors contribute to a variety of pediatric immune-related illnesses. Ironically, the environmental risk factors are usually considered as one large continuum of equivalent chemical, physical and emotional factors spanning the entirety of a child’s development. But the reality is that some prenatal and neonatal environmental factors are most likely to cause the underlying pediatric immune dysfunction necessary for inflammatory, autoimmune and allergic disease. In contrast, other childhood environmental factors are usually triggers that activate or challenge the dysfunctional immune system leading directly to disease. Exposure to these triggers represents a final step in the overall disease process. Knowledge of both the causative agents for immune dysfunction as well as the triggering factors is important. However, viewing these prenatal and childhood factors as one continuum of risk is not always helpful. These distinct groups of environmental factors need to be recognized separately if prevention of immune dysfunction and management of immune-based diseases are to be optimized. This mini-review provides a unifying hypothesis concerning causative environmental factors vs triggering events for several important pediatric diseases. Improved recognition of these different steps should help pediatricians to better address these diseases.
许多儿科疾病都与潜在的免疫功能障碍有关,这种免疫功能障碍会对常见的传染性挑战和其他疾病产生有问题的反应。在儿童时期,免疫功能障碍表现为:1)对某些感染的易感性增加,2)组织损伤,疲劳和继发感染的炎症调节不当,3)自身免疫性疾病和4)过敏性疾病。环境和遗传风险因素都会导致多种儿科免疫相关疾病。具有讽刺意味的是,环境风险因素通常被认为是跨越整个儿童发展的化学、物理和情感因素的一个大连续体。但现实情况是,一些产前和新生儿环境因素最有可能导致儿童潜在的免疫功能障碍,这是炎症、自身免疫和过敏性疾病所必需的。相比之下,其他童年环境因素通常是触发因素,激活或挑战功能失调的免疫系统,直接导致疾病。接触这些诱因代表了整个疾病过程的最后一步。了解免疫功能障碍的致病因子和触发因素是很重要的。然而,将这些产前和童年因素视为一个连续的风险并不总是有帮助的。如果要优化免疫功能障碍的预防和基于免疫的疾病的管理,需要分别认识这些不同的环境因素组。这篇小型综述提供了一个关于几种重要儿科疾病的致病环境因素与触发事件的统一假设。提高对这些不同步骤的认识将有助于儿科医生更好地解决这些疾病。
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引用次数: 19
Water-Pipe Tobacco Smoking: An Emerging Health Risk Behavior inAdolescents in the United States 水烟管吸烟:美国青少年中一种新兴的健康风险行为
Pub Date : 2009-04-30 DOI: 10.2174/1874309900903010033
W. Abuhammour, N. Yousef, J. Evans, Rudayna Zureikat, Mutaz Abuhammour, R. Hasan
Objective: To assess the attitude and practices of adolescents regarding water-pipe smoking (WPS) in a predefined 'perceived' high risk group of youth 12-18 years of age in the Detroit metropolitan area. Methods: This was a cross-sectional survey (conducted March1 st through June 30 th , 2008) in which participants completed a self-reported questionnaire, which included demographics, WPS, other types of smoking, and their perception about the hazards of WPS. Results: A total of 272 (85% response rate (272/320) surveys were completed. One hundred and sixty seven (61%) were WPS "users". Fifty-six (22%) used WPS at home, 34 (13%) at coffee shops, 74 (29%) at both locations, and 3 (1%) at other locations. Relative to non-users, WPS users were more likely to be cigarette smokers (OR = 1.7, unadjusted OR = 2.5, p < 0.05), to have someone else in the household who uses WPS (OR = 2.2), to believe that WPS is safe (OR = 1.4, unadjusted OR = 2.0) and that WPS is less harmful than cigarettes (OR = 1.2 unadjusted OR = 1.6, p<0.05). In addition WPS use was associated with less likelihood of believing that one may acquire an infection (OR = 0.9) and that the toxicity of the inhalants was equivalent to cigarette smoking (OR = 0.8). Conclusions: WPS represents a growing public health issue for adolescents in the US. Aggressive education of adolescents is essential in combating the misperception associated this form of smoking.
目的:评估底特律市区12-18岁青少年预先定义的“感知”高风险群体中青少年对水烟(WPS)的态度和行为。方法:采用横断面调查方法(2008年3月1日至6月30日),参与者填写了一份自述问卷,内容包括人口统计学、WPS、其他类型吸烟以及他们对WPS危害的认知。结果:共完成问卷调查272份,应答率(272/320)85%。167人(61%)是WPS的“用户”。56人(22%)在家中使用WPS, 34人(13%)在咖啡店使用,74人(29%)在两个地点使用,3人(1%)在其他地点使用。与非使用者相比,WPS使用者更有可能是吸烟者(OR = 1.7,未经调整的OR = 2.5, p<0.05),家中有其他人使用WPS (OR = 2.2),相信WPS是安全的(OR = 1.4,未经调整的OR = 2.0),并且WPS的危害比香烟小(OR = 1.2,未经调整的OR = 1.6, p<0.05)。此外,使用WPS与认为自己可能感染的可能性较低(OR = 0.9)以及吸入剂的毒性与吸烟相当(OR = 0.8)相关。结论:WPS代表了美国青少年日益严重的公共卫生问题。对青少年进行积极的教育对于消除与这种形式的吸烟有关的误解至关重要。
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引用次数: 1
Reversion to the Neurovilurent Genome Sequence of Polio Vaccine VirusIsolated from Community-Acquired Meningitis 社区获得性脑膜炎脊髓灰质炎疫苗病毒神经链基因组序列的还原
Pub Date : 2009-03-20 DOI: 10.2174/1874309900903010031
Zenichiro Kato, Y. Shimada, H. Ishiko, N. Kondo
Neurologic complication associated with the use of live attenuated oral poliomyelitis vaccine is uncommon, but vaccine-associated paralytic poliomyelitis in recipients or contacts has sometimes been reported. We report here a com- munity-acquired aseptic meningitis case and the genetic investigation of the isolated poliovirus type 2. The results of the genetic analysis indicate that the mechanism of this meningitis could be the result of the reversion of the virus during rep- lication in the other vaccine recipients, suggesting a quest for revising the current vaccination program.
与使用口服脊髓灰质炎减毒活疫苗相关的神经系统并发症并不常见,但有时也有接种者或接触者出现疫苗相关的麻痹性脊髓灰质炎的报道。我们在此报告一个社区获得性无菌性脑膜炎病例和分离的2型脊髓灰质炎病毒的遗传调查。遗传分析的结果表明,这种脑膜炎的机制可能是病毒在其他疫苗接种者的再接种过程中逆转的结果,这表明需要修改当前的疫苗接种计划。
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引用次数: 0
Straddle Injury in Girls. A Pilot Study Testing Potential for an InjurySurveillance Registry 女孩跨骑伤害。一项测试伤害监测登记潜力的试点研究
Pub Date : 2009-03-13 DOI: 10.2174/1874309900903010021
A. Fette, L. Hörte
Objectives: Straddle injury represents a rare and complex injury to the female genito urinary tract (GUT). Overall prevention would be the ultimate goal, but due to persistent inhomogenity and inconsistency in definitions and guidelines, or suboptimal coding, the optimal study design for a prevention programme is still missing. Thus, medical records data were tested for their potential use for an injury surveillance registry and their impact on future prevention programmes. Design: Retrospective record analysis out of a 3 year period. Setting: All patients were treated exclusively by the first author. Patients: Six girls, median age 7 years, range 3.5 to 12 years with classical straddle injury. Interventions: Medical treatment and recording according to National and International Standards. Main Outcome Measures: All records were analyzed for accuracy in diagnosis and coding, surgical procedure, time and location of incident and examination findings. Results: All registration data sets were complete. A specific code for “straddle injury” in International Classification of Diseases (ICD) did not exist. Coding followed mainly reimbursement issues and specific information about the injury was usually expressed in an individual style. Conclusions: As demonstrated in this pilot, population based medical record data collection can play a substantial part in local injury surveillance registry and prevention initiatives planning.
目的:跨骑损伤是一种罕见而复杂的女性生殖器尿路损伤。全面预防将是最终目标,但由于定义和指南的持续不均匀和不一致,或次优编码,预防方案的最佳研究设计仍然缺失。因此,对医疗记录数据进行了测试,以了解其在伤害监测登记中的潜在用途及其对未来预防方案的影响。设计:为期3年的回顾性记录分析。环境:所有患者均由第一作者单独治疗。患者:6名女孩,中位年龄7岁,年龄3.5 - 12岁,典型跨骑损伤。干预措施:根据国家和国际标准进行医疗和记录。主要观察指标:分析所有记录的诊断和编码、手术方式、事件发生的时间和地点以及检查结果的准确性。结果:所有注册数据集完整。《国际疾病分类》中没有关于"跨界伤害"的具体代码。编码主要是报销问题,关于受伤的具体信息通常以个人方式表达。结论:正如该试点所表明的那样,基于人口的医疗记录数据收集可以在地方伤害监测登记和预防举措规划中发挥重要作用。
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引用次数: 2
The Relationship Between Body Weight and Objective Measures of AirwayObstruction in Children 儿童体重与气道阻塞客观指标的关系
Pub Date : 2009-03-13 DOI: 10.2174/1874309900903010026
R. Hasan, W. Abuhammour, G. Zureikat
Objective: The purpose of this study was to describe the effects of obesity (body mass index  95 th percentile) on objective measures of airway obstruction as determined by spirometry. Design: Prospective cross-sectional study. Methods: Two hundred ninty six (Age: 13.6 ± 1.5 Years) children from two middle schools were enrolled. The standing heights and weights in bear-feet were measured, and body mass index (BMI) was calculated. Spirometry was performed according to the American Thoracic Society guidelines. The definition of reversible airway obstruction was based on the following criteria: forced expiratory volume in one second (FEV1) 5% lower than predicted for age and sex. Results: Two-hundred-twenty-six children (76%) were African-American and 71 children (24%) were white. 138 (46%) children were obese. 36/296 (12%) children met the criteria for reversible airway obstruction, of which 29/296 (9.7%) were obese. Baseline FEV1 percent predicted (88 ± 6 vs 84 ± 7 %, p = 0.03), FEV1 /FVC(94 ± 6 vs 86 ± 8, p < 0.001), and FEV1 percent predicted following albuterol administration (95 ± 7 vs 88 ± 7 %, p = 0.03) were all lower in children who were obese.
目的:本研究的目的是描述肥胖(体重指数第95百分位数)对肺量测定法确定的气道阻塞的客观测量的影响。设计:前瞻性横断面研究。方法:选取两所中学的226名儿童(年龄:13.6±1.5岁)。测量站立高度和熊脚体重,计算体重指数(BMI)。肺活量测定按照美国胸科学会指南进行。可逆性气道阻塞的定义基于以下标准:一秒钟用力呼气量(FEV1)比年龄和性别预测低5%。结果:226名儿童(76%)是非裔美国人,71名儿童(24%)是白人。138名(46%)儿童肥胖。36/296(12%)患儿符合可逆性气道阻塞标准,其中29/296(9.7%)患儿为肥胖。肥胖儿童的FEV1预测基线值(88±6比84±7%,p = 0.03)、FEV1 /FVC(94±6比86±8,p < 0.001)和沙丁醇治疗后FEV1预测值(95±7比88±7%,p = 0.03)均较低。
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引用次数: 1
Beneficial Effects of Herbal Medicine on Susceptibility to Infection in a Patientwith Immunoglobulin Deficiency 中药对免疫球蛋白缺乏患者感染易感性的有益影响
Pub Date : 2009-02-23 DOI: 10.2174/1874309900903010018
Zenichiro Kato, Takahide Teramoto, N. Kondo
A case of immunoglobulin deficiency suffered from recurrent enterocolitis and otitis media was treated by Shoukenchuto, one of the Japanese herbal medicines (Kampo), and his susceptibility to infection markedly improved. The increase in the T cell percentage and in the lymphocyte proliferation in our patient suggests the importance of regulatory function of T cells for clinical improvement. The findings in our case and the previously reported cases suggest the use- fulness of Japanese herbal medicine or Chinese medicine as an alternative or a supportive therapy for patients with immu- nological abnormalities.
1例因免疫球蛋白缺乏而复发性小肠结肠炎和中耳炎的患者,经中药寿kenchuto治疗后,其感染易感性明显改善。本例患者T细胞百分比和淋巴细胞增殖的增加提示T细胞调节功能对临床改善的重要性。本病例的发现和先前报道的病例表明,日本草药或中药可作为免疫异常患者的替代或辅助治疗。
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引用次数: 0
Time Course of H2 Production Following Oral Lactose Load in Childrenwith and without Lactose Intolerance 有无乳糖不耐症儿童口服乳糖负荷后产氢的时间过程
Pub Date : 2009-02-12 DOI: 10.2174/1874309900903010013
S. Maddaluno, M. Esposito, C. Veropalumbo, C. Gentile, I. D. Napoli, M. Caropreso, N. Sannolo, P. Vajro
Aims: To evaluate whether orocoecal transit time (OCTT) might improve the correct allocation (lactose absorb- ers vs malabsorbers) of subjects with "borderline" H2 Breath test (H2BT) values ranging 10-20 ppm, and to determine among malabsorbers if OCTT can aid to discern lactose intolerant from tolerant individuals. Patients and Methods: OCTT and increment of H2 levels in breath following a dose of lactose were assessed in 49 chil- dren (mean age 3.3 years; range 0.6-11.0) suspected of lactose malabsorption. A rise > 20 ppm was used as the criterion to separate malabsorbers from absorbers. Results: OCTT averaged 177 ± 40 minutes (mean ± SD) in 14 H2 producing lactose absorbers and 78 ± 39 minutes in 22 lactose malabsorbers (p 75 minutes and no lactose tolerant subject had an OCTT < 75 minutes (sensitivity and specificity 100%; PPV and NPV 100%). Values between 105 and 175 minutes represented a gray area including both absorbers (21%) and all tolerant malabsorb- ers (100%). OCTT longer than 175 minutes excluded lactose malabsorption (sensitivity 100%; specificity 69%; PPV 84%; NPV 100%). In 6 out of 8 cases with borderline H2BT results, OCTT clear cut values were useful to reach the cor- rect diagnostic allocation. Conclusions: OCTT evaluation in addition to considering only H2 concentration is a methodological improvement of H2BT procedure. Although it does not represent an absolute gold standard, OCTT testing may aid in reaching a diagnostic conclusion in some patients where clinical and laboratory features after lactose ingestion remains unclear.
目的:评估口腔过境时间(OCTT)是否可以改善H2呼气测试(H2BT)值在10-20 ppm范围内的受试者的正确分配(乳糖吸收者与乳糖吸收不良者),并确定在吸收不良者中,OCTT是否有助于区分乳糖不耐受者和乳糖耐受者。患者和方法:对49例儿童(平均年龄3.3岁;范围0.6-11.0)怀疑乳糖吸收不良。以上升> 20ppm作为区分吸收不良剂和吸收剂的标准。结果:14例产H2乳糖吸收者的OCTT平均为177±40分钟(mean±SD), 22例乳糖吸收不良者的OCTT平均为78±39分钟(p = 75分钟),无乳糖耐受者的OCTT < 75分钟(敏感性和特异性均为100%;PPV和NPV 100%)。105至175分钟之间的值代表一个灰色区域,包括吸收者(21%)和所有耐受吸收不良者(100%)。OCTT时间超过175分钟排除乳糖吸收不良(敏感性100%;特异性69%;PPV 84%;NPV 100%)。在8例有边缘性H2BT结果的病例中有6例,OCTT清晰值有助于达到正确的诊断分配。结论:除了仅考虑H2浓度外,OCTT评估是H2BT程序的方法学改进。虽然它不代表绝对的金标准,但OCTT测试可能有助于在一些乳糖摄入后临床和实验室特征尚不清楚的患者中得出诊断结论。
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引用次数: 0
Immaturity and Disease Severity are Independent Risk Factors to DevelopRetinopathy of Prematurity 不成熟和疾病严重程度是发生早产儿视网膜病变的独立危险因素
Pub Date : 2009-01-29 DOI: 10.2174/1874309900903010008
K. Allegaert, S. Vanhaesebrouck, C. Vanhole, I. Casteels
Purpose: Document indicators of an increased risk to develop retinopathy of prematurity (ROP) in low birth weight (LBW, 1 250g. In a logistic regression model in 248 LBW survivors, both GA (OR 0.42) and CRIB score (OR 1.35) remained independent risk factors for stage 3 ROP, resulting in 90% of cases classified correctly. Conclusions: Stage 3 ROP is almost exclusively limited to neonates with a birth weight below 1000g and retinopathy (any stage) is almost absent in neonates with a birth weight > 1 250g. Immaturity, i.e. GA at birth and CRIB score, reflecting disease severity, are the most important risk factors to develop retinopathy.
目的:记录低出生体重(LBW, 1,250 g)早产儿视网膜病变(ROP)风险增加的指标。在248例LBW幸存者的logistic回归模型中,GA (OR 0.42)和CRIB评分(OR 1.35)仍然是3期ROP的独立危险因素,导致90%的病例分类正确。结论:3期ROP几乎完全局限于出生体重低于1000g的新生儿,出生体重> 1250g的新生儿几乎没有视网膜病变(任何阶段)。不成熟,即出生时GA和反映疾病严重程度的CRIB评分是发生视网膜病变最重要的危险因素。
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引用次数: 0
Diagnostic Markers for Identifying Sepsis in Patients with SystemicInflammatory Response Syndrome (SIRS): A Prospective Study 系统性炎症反应综合征(SIRS)患者脓毒症的诊断标志物:一项前瞻性研究
Pub Date : 2009-01-02 DOI: 10.2174/1874309900903010001
J. Pavare, I. Grope, L. Eihvalde, D. Gardovska
Sepsis caused by infection remains a major cause of mortality and morbidity among children. Several inflam- matory markers have failed to meet the requirements for early diagnosis of sepsis. We saw the potential value of measur- ing the total leukocyte count and the inflammatory markers C reactive protein (CRP), procalcitonin (PCT) and interleukin (IL) 6 in patients with SIRS for early identifying of sepsis. Children with SIRS (n = 52) were included in a prospective study. Changes in the total leukocyte count and levels of inflammatory markers and their inter-correlations were evaluated in SIRS and sepsis patients at different time points. Sepsis was recognized in 21% of the SIRS patients. There was a statis- tically significant difference between PCT and CRP levels in the SIRS and sepsis patient groups. In patients with sepsis, the IL6 level at the outset of the study had a mean value of 476.68 ± 955.137 pg/ml, which differed significantly from the mean IL6 level in SIRS patients (51.3 ± 137.5 pg/ml). The IL6 level in sepsis patients decreased significantly after 24 hours. We conclude that SIRS and sepsis patients differed significantly in respect of changes in CRP, PCT and IL6 levels. In view of the relatively small number of subjects in the sepsis group we can only suggest that special attention should be paid to SIRS patients with elevated levels of those indicators. A continuing search for specific and sensitive inflammatory markers and their combinations in SIRS patients is required so that sepsis can be diagnosed early enough.
感染引起的败血症仍然是儿童死亡和发病的主要原因。一些炎症标志物已不能满足早期诊断败血症的要求。我们看到了在SIRS患者中测量白细胞总数和炎症标志物C反应蛋白(CRP)、降钙素原(PCT)和白细胞介素(IL) 6对早期识别脓毒症的潜在价值。SIRS患儿(n = 52)被纳入一项前瞻性研究。评估SIRS和脓毒症患者在不同时间点的总白细胞计数和炎症标志物水平的变化及其相互相关性。21%的SIRS患者被诊断为脓毒症。SIRS组和败血症组PCT和CRP水平差异有统计学意义。在脓毒症患者中,研究开始时的IL6水平平均值为476.68±955.137 pg/ml,与SIRS患者的平均IL6水平(51.3±137.5 pg/ml)有显著差异。脓毒症患者il - 6水平在24小时后明显降低。我们得出结论,SIRS和脓毒症患者在CRP、PCT和IL6水平的变化方面存在显著差异。鉴于脓毒症组的受试者数量相对较少,我们只能建议对这些指标水平升高的SIRS患者给予特别关注。需要在SIRS患者中继续寻找特异性和敏感的炎症标志物及其组合,以便尽早诊断败血症。
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引用次数: 7
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