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Syndromes associated with growth deficiency. 与生长缺陷相关的综合征。
Pub Date : 1989-01-01 DOI: 10.1111/j.1651-2227.1989.tb17159.x
D L Rimoin, J M Graham
There are literally hundreds of syndromes associated with short stature which have different prognoses, complications and responses to treatment (1 -3). A specific diagnosis is essential for accurate prognosis, treatment and genetic counselling. The first step in the clinical evaluation of short stature is to determine whether the body habitus is proportionate or disproportionate (Fig. 1). In general, children with disproportionate short stature have a skeletal dysplasia, whereas those with proportionate short stature usually have a more generalized disorder, such as intrauterine growth retardation (IUGR), malnutrition, chronic disease, psychosocial dwarfism, chromosomal anomalies or an endocrine disorder. Exceptions to this rule d o occur, however, such as the disproportionate dwarfism in severe cretinism or the proportionate shortening in osteogenesis imperfecta. A mildly disproportionate body habitus may not be apparent on casual examination, and thus anthropometric measurements, such as sitting height or upper/lower segment ratio and arm span, must be made before a relatively mild skeletal dysplasia, such as hypochondroplasia, can be excluded. Once a person with short stature is found to be proportionate, it is helpful to determine whether growth deficiency was of prenatal or postnatal onset. Prenatal onset growth deficiency usually implicates a fetal environmental insult or general cellular genetic defect. Late fetal insults are more likely to result in catch-up growth postnatally than prolonged
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引用次数: 8
The pathophysiology of the pancreatic defect in cystic fibrosis. 囊性纤维化胰腺缺损的病理生理学研究。
Pub Date : 1989-01-01 DOI: 10.1111/apa.1989.78.s363.41
P R Durie

Studies of the postnatal development of the pancrease in CF infants show a failure of acinar development and an increase in lumen volume with accumulation of secretory material within the pancreatic ducts. Our evaluation of functional changes within the exocrine pancreas are consistent with the pathologic findings. Impaired pancreatic fluid secretion appears to be a primary phenomenon of CF. We have shown that pancreatic secretions from CF patients also contain significantly higher concentrations of protein in comparison with pancreatic function-matched controls. Since total protein output is not increased, hyperconcentration of protein appears to be a direct result of a primary defect of fluid secretion. Protein hyperconcentration appears to predispose CF patients to protein precipitation and obstruction within small pancreatic ducts which, in turn, produces pancreatic acinar atrophy and fibrosis Our studies suggest that both bicarbonate and chloride transport within pancreatic ducts account for deficient fluid secretion in the pancreas of CF subjects.

CF婴儿出生后胰酶发育的研究显示腺泡发育失败,胰管内分泌物质积累导致管腔体积增加。我们对外分泌胰腺功能变化的评估与病理结果一致。胰液分泌受损似乎是CF的主要现象。我们已经表明,与胰腺功能匹配的对照组相比,CF患者的胰腺分泌物也含有明显更高浓度的蛋白质。由于总蛋白输出量没有增加,蛋白质的高浓度似乎是液体分泌初级缺陷的直接结果。蛋白质高浓度似乎使CF患者易发生小胰管内的蛋白质沉淀和梗阻,进而产生胰腺腺泡萎缩和纤维化。我们的研究表明,胰腺导管内的碳酸氢盐和氯化物运输是CF患者胰腺液体分泌不足的原因。
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引用次数: 37
7th International Symposium on Growth and Growth Disorders. Proceedings of a meeting. Rome, Italy, 21-22 April 1989. 第七届生长和生长障碍国际研讨会。会议记录。1989年4月21日至22日,意大利罗马。
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引用次数: 0
Update on the Kabi International Growth Study, April 1989. Kabi国际增长研究的最新进展,1989年4月。

The efficacy and safety of recombinant human growth hormone (rhGH) treatment is under prospective evaluation in children with various short stature conditions. Of the 987 children enrolled up to April 1989, 836 (84.7%) had classic growth hormone deficiency (GHD) and 151 (15.3%) non-GHD. There was a predominance of idiopathic growth hormone deficiency (IGHD), with a ratio of IGHD to secondary or organic GHD (OGHD) of 2.2:1. There were more boys than girls in both the IGHD and OGHD groups. Isolated GHD was more common than multiple pituitary hormone deficiency except in some of the groups with OGHD. About half of the OGHD patients had GHD secondary to treatment for CNS tumours. Idiopathic short stature and Turner's syndrome were the most common diagnoses in the non-GHD group. The median age at onset of treatment in IGHD was 8.2 years for boys and 8.6 years for girls. The corresponding figures for OGHD were 14.0 years and 12.2 years, respectively. The height SDS for chronological age at the start of treatment was -3.0 for IGHD and slightly less for children with OGHD. Approximately one-third of the children had already reached puberty at the start of hGH treatment.

重组人生长激素(rhGH)治疗各种矮小儿童的疗效和安全性正在进行前瞻性评价。在1989年4月登记的987名儿童中,836名(84.7%)患有典型生长激素缺乏症(GHD), 151名(15.3%)非生长激素缺乏症。以特发性生长激素缺乏症(IGHD)为主,与继发性或有机性生长激素缺乏症(OGHD)的比例为2.2:1。在IGHD组和OGHD组中,男孩比女孩多。除部分OGHD组外,孤立性GHD比多发性垂体激素缺乏症更常见。大约一半的OGHD患者继发于中枢神经系统肿瘤的治疗。特发性身材矮小和特纳综合征是非ghd组中最常见的诊断。在IGHD治疗中,男孩的中位发病年龄为8.2岁,女孩为8.6岁。OGHD的相应数字分别为14.0岁和12.2岁。治疗开始时,IGHD患儿实足年龄的身高SDS为-3.0,OGHD患儿的身高SDS略低。大约三分之一的儿童在hGH治疗开始时已经进入青春期。
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引用次数: 0
Ontogeny of digestion and absorption as related to perinatal changes in food composition in infants. 消化和吸收的个体发生与围产期婴儿食物组成的变化有关。
O Koldovský
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引用次数: 0
On the construction of the infancy-childhood-puberty growth standard. 论婴幼儿-儿童-青春期生长标准的构建。
Pub Date : 1989-01-01 DOI: 10.1111/j.1651-2227.1989.tb11237.x
J Karlberg

Using the infancy-childhood-puberty (ICP) growth model, the postnatal linear growth curve is mathematically broken down into three components: infancy, childhood and puberty. The fact that each component of this model seems to represent a defined biological phase of the growth process, extends its clinical application. The principles used to construct the ICP growth standard and the basic 'clinical' ICP-based growth charts are described. These charts have a number of advantages over the conventional growth charts currently in use. Most importantly, the ICP growth chart provides reference values not only for total growth but also for each of the three individual components. Using this methodology, the magnitude and the onset of each component can be assessed in an individual child. The age at onset of the childhood component, which is a newly discovered and important feature of human growth, can easily be detected in an individual child. Furthermore, prepubertal growth, onset of puberty and pubertal growth can be accurately assessed, because the difference in pubertal maturation is taken into account when setting standards during adolescence. The methodology also offers a new and highly accurate predictor of final height and permits assessment of growth rates over shorter and longer periods using a simple and effective method of assessing change. The ICP growth model appears to be a refined instrument for detecting and understanding growth disturbances.

使用婴儿期-儿童期-青春期(ICP)生长模型,出生后的线性生长曲线在数学上分为三个部分:婴儿期、儿童期和青春期。事实上,该模型的每个组成部分似乎代表了生长过程的一个确定的生物学阶段,扩展了其临床应用。描述了用于构建ICP生长标准和基本“临床”ICP生长图的原则。与目前使用的传统增长图表相比,这些图表有许多优点。最重要的是,ICP增长图表不仅提供了总体增长的参考值,而且还提供了三个单独组成部分的参考值。使用这种方法,可以在单个儿童中评估每个组成部分的大小和发病情况。儿童部分的发病年龄是人类生长的一个新发现和重要特征,可以很容易地在单个儿童中检测到。此外,青春期前生长、青春期开始和青春期生长可以准确评估,因为在制定青春期标准时考虑到了青春期成熟的差异。该方法还提供了一种新的、高度准确的最终高度预测器,并允许使用一种简单有效的评估变化的方法来评估短期和长期的生长速度。ICP增长模型似乎是一种检测和理解增长干扰的精密工具。
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引用次数: 127
Psychomotor and mental development during infancy. Relation to psychosocial conditions and health. Part IV of a longitudinal study of children in a new Stockholm suburb. 婴儿期的精神运动和智力发展。与社会心理状况和健康有关。第四部分纵向研究的儿童在一个新的斯德哥尔摩郊区。
Pub Date : 1989-01-01 DOI: 10.1111/j.1651-2227.1989.tb11228.x
L Nordberg, P A Rydelius, I Nylander, G Aurelius, R Zetterström

This article presents the fourth substudy in a Swedish research project of a birth cohort of children in a newly-built Stockholm suburb. The aims are to follow and to describe their mental development by prospective methods. Here we present the results of the one-year follow-up. The children's mental development, measured with the Griffiths' Development Scales, and their behaviour in the test situation and during the home visit are described. These results are related to various psychosocial background factors (such as the parents' ages, number of siblings, form of custody), home environment factors (the parents' mental disease, addictions and criminality) and the children's physical health and development. Children with deviant behaviour during the home visits are described separately. Of 640 women who paid their first visit to the maternal welfare centers in a new Stockholm suburb during one prospective year, 532 (85%) were interviewed with regard to 41 stress factors forming a "Life stress score" (LSS). The interviews were supplemented with data from hospital, social welfare and police records concerning the expectant mother and the father. The 532 mothers were divided into three groups according to the degree of psychosocial stress (194 without psychosocial stress, 171 with severe psychosocial stress and 167 in an intermediate group). The pregnancies and deliveries of all mothers were evaluated. The physical health and development (using information from the child welfare clinics) and the mental health and development (using information from home visits and testings) were studied during infancy in 452 children (226 boys and 226 girls)--i.e. 77% of all children born in the suburb during the year. The children were tested with the Griffiths' Development Scales and their behaviour during the test was observed on home visits by the same psychologist (L.N.) at the age of 10 months (79 boys, 73 girls) or 14 months (92 boys, 107 girls), or about the age of 18 months (55 boys, 46 girls). The test results are mainly reported by descriptive methods. In summary, the results of the evaluation of the children's mental health during the first year of life, generally showed average developmental quotients. However, 20% of the children had values below the average. Thirty-two per cent of the children with low test results (less than -1 standard deviation on the total test) came from homes with serious psychosocial stress and 29% from homes with a mild degree of psychosocial stress. Of the nine children who had generally very low scores in the Griffiths' evaluation, seven came from homes with psychosocial stress.(ABSTRACT TRUNCATED AT 400 WORDS)

这篇文章提出了第四个子研究在瑞典研究项目的出生队列的儿童在一个新建的斯德哥尔摩郊区。目的是通过前瞻性的方法跟踪和描述他们的心理发展。在这里,我们给出了一年随访的结果。用格里菲思发展量表测量儿童的心理发展,并描述他们在测试情境和家访期间的行为。这些结果与各种社会心理背景因素(如父母的年龄、兄弟姐妹的数目、监护形式)、家庭环境因素(父母的精神疾病、成瘾和犯罪)以及儿童的身体健康和发展有关。在家访期间有异常行为的儿童被单独描述。640名妇女在未来一年内首次访问了斯德哥尔摩新郊区的产妇福利中心,其中532名(85%)接受了关于构成“生活压力得分”(LSS)的41个压力因素的采访。访谈还补充了医院、社会福利和警方关于准妈妈和准爸爸的记录数据。532名母亲根据心理社会压力程度分为三组(194名母亲无心理社会压力,171名母亲有严重心理社会压力,167名母亲处于中间状态)。评估了所有母亲的妊娠和分娩情况。对452名儿童(226名男孩和226名女孩)在婴儿期的身体健康和发育(利用儿童福利诊所提供的信息)以及心理健康和发展(利用家访和测试提供的信息)进行了研究。这一年在郊区出生的孩子中有77%。孩子们用格里菲斯发展量表进行测试,他们在测试中的行为由同一位心理学家(L.N.)在10个月大(79个男孩,73个女孩)或14个月大(92个男孩,107个女孩)或大约18个月大(55个男孩,46个女孩)时进行家访观察。试验结果主要以描述性方法报道。综上所述,儿童第一年的心理健康评估结果总体上显示出平均的发展商数。然而,20%的孩子的值低于平均水平。测试结果较低(总测试的标准差小于-1)的儿童中,32%来自有严重心理社会压力的家庭,29%来自有轻度心理社会压力的家庭。在格里菲思夫妇的评估中,九个得分普遍很低的孩子中,有七个来自有社会心理压力的家庭。(摘要删节为400字)
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引用次数: 31
Neuroendocrine control of growth hormone secretion. 生长激素分泌的神经内分泌控制。
Pub Date : 1989-01-01 DOI: 10.1111/j.1651-2227.1989.tb17175.x
V de Gennaro Colonna, S G Cella, V Locatelli, S Loche, E Ghigo, D Cocchi, E E Müller
It is now a tenet of neuroendocrinology that the secretion of growth hormone (GH) is regulated by the central nervous system (CNS) (1). Two specific neuropeptides in the hypothalamus, GH-releasing hormone (GHRH) and somatostatin, exert dual control over GH secretion. These in turn are regulated by numerous neurotransmitters, which may act at the level of the GHRHor somatostatin-producing neurones or both. Both amine and amino acids neurotransmitters play a role in the control of GH release and, in general, they exert a dual influence, either stimulating or inhibiting hormone release. This dual effect on GH secretion results from actions of the same molecule at both GHRHand somatostatin-secreting neurones. This is best exemplified by catecholamines, where aand 0-adrenoceptors exert, respectively, stimulatory and inhibitory influences. Alternatively, the neurotransmitter may pass into the stalk blood to act at a receptor site located on the somatotroph (2). As a result of GH secretion, both GH itself and the GH-dependent insulinlike growth factors (IGFs) exert a feedback inhibitory action on GH secretion via hypothalamic and/or pituitary sites (Fig. 1). In addition to the classical neurotransmitters, a host of neuropeptides stimulate GH release, though their physiological function is unclear. In general, these compounds do not act directly at the level of the pituitary, but via the CNS, particularly with the mediation of classical neurotransmitters (1, 3). This paper focuses on certain aspects of the neuroendocrine control of GH secretion which the authors have investigated recently.
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引用次数: 16
Oral rehydration solutions for the children of Europe. Proceedings of a workshop held at XXI annual meeting of ESPGAN. Copenhagen 1988. 为欧洲儿童提供的口服补水溶液。ESPGAN第21届年会上举行的讲习班会议记录。1988年哥本哈根。
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引用次数: 0
Neonatal septicaemia--incidence, etiology and outcome. A 6-year analysis. 新生儿败血症——发病率、病因和结局6年的分析。
E L Grauel, E Halle, R Bollmann, P Buchholz, S Buttenberg

Between 1983 and 1988 we observed altogether 222 cases of neonatal septicemia and/or meningitis in our Department of Neonatology. The incidence was 8.46 per 1,000 liveborn infants. The case fatality rate amounted to 45.9%. The most frequently isolated causative agents were Escherichia coli (23.4%) followed by group B Streptococci (16.7%), Staphylococcus aureus (9.9%), Klebsiella pneumoniae species (8.8%), Serratia marcescens (7.9%), Pseudomonas aeruginosa and coagulase-negative Staphylococci each 5.9%. The report includes information about serotypes of Escherichia coli, group B Streptococci and plasmid patterns of Serratia marcescens. The latter was responsible for an outbreak of septicemia and meningitis with high mortality. The changing infection pattern reflects changes in the newborn population, especially in the patient structure of the neonatal intensive care unit, changes in the antibiotic policy and organizational problems.

1983年至1988年间,我们在新生儿科共观察到222例新生儿败血症和/或脑膜炎病例。发病率为每1000名活产婴儿8.46例。病死率为45.9%。最常见的病原菌为大肠杆菌(23.4%),其次为B群链球菌(16.7%)、金黄色葡萄球菌(9.9%)、肺炎克雷伯菌(8.8%)、粘质沙雷菌(7.9%)、铜绿假单胞菌和凝固酶阴性葡萄球菌(5.9%)。该报告包括大肠杆菌、B组链球菌和粘质沙雷氏菌的血清型信息。后者造成了败血症和脑膜炎的爆发,死亡率很高。感染模式的变化反映了新生儿人口的变化,特别是新生儿重症监护病房的患者结构的变化,抗生素政策的变化和组织问题。
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引用次数: 0
期刊
Acta paediatrica Scandinavica. Supplement
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