高免疫球蛋白E综合征：2例报道及文献回顾

高免疫球蛋白E综合征(H IES)是一种罕见的免疫缺陷性疾病,表现为血清IgE水平升高、皮肤湿疹、反复皮肤感染和特征性的肌肉骨骼表现。作者报道2例在本院就诊的患者并回顾当前文献。患者1是一18个月大的非裔美国男孩,伴有复发性葡萄球菌冷脓肿、肺炎和菌血症。该患者皮肤严重湿疹     

头皮原发性皮肤神经节细胞瘤

神经节细胞瘤是一种神经内分泌肿瘤，其发生与自主神经系统的交感或副交感神经节有关。罕见发生于膀胱、前列腺和子宫。本文作者报道1例发生于儿童头皮的原发性皮肤神经节细胞瘤。对此肿瘤进行了组织学、免疫组化和超微结构研究。该病例可能代表神经嵴细胞向鳃弓发育过程中的一种异常迁移。此外，研究结果还强调在胚胎发育过程中神经嵴和鳃弓／裂之间有复杂的相互作用。     

在非裔美国人中用1％吡美莫司软膏治疗伴色素减退的脂溢性皮炎的先导性试验

背景:非裔美国人发生脂溢性皮炎时可伴色素减退。治疗通常应用皮质激素和抗真菌药,然而长期使用皮质激素可导致皮肤萎缩,眼内压增高,或加重色素减退。吡美莫司已被成功用于治疗一些脂溢性皮炎患者。目的:此开放性预试验用于评估吡美莫司治疗非裔美国人中伴色素减退的脂溢性皮炎     

联用alefacept和依那西普治疗3例单用依那西普治疗无效的银屑病患者

本文报道联用alefacept和依那西普治疗3例单用依那西普疗效不佳的银屑病患者。完成12周alefacept治疗后，所有患者病情改善，且持续了至少8周。无副反应或感染发生，CD4＋T细胞计数高于正常值。     

Prevalence and impact of chronic childhood conditions in Auckland, New Zealand

Objective : To establish the prevalence of specific chronic conditions of childhood in the Auckland area and to quantify resource use by these children.
Methodology : Estimates were made from available registry data and published data sources of the population of children with selected chronic conditions resident in the Auckland Area Health Board area. Resource use data were extracted for admissions to Auckland public hospitals and from providers of community based technology services.
Results : The largest community prevalence groups are those with asthma, intellectual handicap, congenital heart disease and epilepsy. Children aged 0-14 with chronic conditions accounted for at least 14340 hospital days stay in Auckland in 1992 at an estimated minimum cost of $7.9 million. Over 200 children are dependent on technological aids at home.
Conclusions : There are sparse data on the numbers and needs of children with chronic conditions in the population. A non-categorical approach which crosses disease entities may be the best method of meeting common needs.     

The potential effect of the UK 1990 height centile charts on community growth surveillance

The UK 1990 height charts are derived from an up to date dataset and introduce a change in the centile lines, particularly the addition of the 0.4th centile. This study examined the likely impact of these changes. Height data from London school children (1990-1993) were examined using Tanner and Whitehouse (TW) and UK 1990 charts. Numbers of children with height below TW 3rd centile were compared with numbers below the UK 1990 3rd and 0.4th centiles. The TW charts identified only 1% of children below the TW 3rd centile, while the UK 1990 charts identified 3% below the 3rd and 0.4% below the 0.4th centiles. If the 3rd centile remains as the referral 'cut off' for short stature, the introduction of the UK 1990 charts would increase current workload two- to three-fold, while a change to the 0.4th centile would reduce it by 50%. A significant number of children with abnormalities may be excluded from further assessment as a result of this latter change. In this small scale community study it is not possible to assess the consequences of this change. The heights at diagnosis of children with growth hormone (GH) deficiency (peak GH < 20 mU/l during a standard provocation test) were therefore compared to the 0.4th centile (UK 1990 charts). Sixty eight children with heights < 2nd centile (UK 1990 charts) currently receiving GH replacement (17 female, 51 male, aged 9.7, SD 3.5, years) were assessed, and of these, 28 (41%) had heights at diagnosis between 0.4th and 2nd centile, with a mean height standard deviation score of -2.32 (SD 0.21). This suggests that if the 0.4th centile were to be used as the sole criterion for referral for slow growth, a significant proportion of children with abnormality would not be referred for further assessment. The UK 1990 2nd centile should replace the TW 3rd centile. Children below this should undergo an intermediary medical assessment to confirm height measurement, to exclude from referral children with mild familial short stature and to identify concerns regarding the child.     

Cocaine use in pregnancy in Amsterdam

To study the effects of cocaine use in pregnancy in Amsterdam, clinical data on cocaine-using pregnant women ( n = 21) and their offspring ( n = 23) were obtained retrospectively (1987–1994) at the Academic Medical Center, Amsterdam. Infants exposed to cocaine had a median gestational age of 39 weeks and a median birth weight of 3090 g. There were six preterm infants, two small-for-gestational-age infants and five infants with a small head circumference. Three infants had a congenital malformation. One infant (Potter's syndrome) died shortly before birth. One infant had congenital syphilis, four had intracerebral abnormalities on ultrasound and four had abnormal neurologic symptoms in the neonatal period. One infant died after 21 days of life. At follow-up four infants showed abnormal development. In 12 of the 23 infants (52%), one or more possible effects of cocaine were found.     

Substance use in pregnancy: do we care?

Two cohorts of substance-using women were compared retrospectively. From 1969 to 1979 a very high perinatal mortality rate (PMR 9.8%) was found among 92 polydrug-using women (1 twin excluded). Preterm delivery occurred in 25% of all pregnancies and in 30% of the children birth weight was below the 10th percentile. Nineteen women using heroin only had a worse fetal outcome (PMR 32%, preterm delivery in 47%, birth weight < 10th percentile in 42%). These results led to a strict surveillance system. In the period 1980–1989, 240 women (4 twins excluded) delivered after 16 weeks. Total fetal loss decreased to 2.1% and PMR to 0.4%, which was similar to results in controls. However, 22% of the women still delivered before 37 weeks and 27% delivered a child < 10th percentile. Methadone-using women were able to halve their dosage during pregnancy and 16 were detoxified. Multivariate analysis within the substance users of the second cohort showed that the neonatal abstinence syndrome, but not the (registered) amount of opiates used, was related to a lower birth weight. Not coping with prenatal care was related to a shorter pregnancy length. Multivariate analysis, including the controls, showed a significant relation of birth weight (345 g lower) with substance use. Also, head circumference was 0.8 cm smaller. Length of pregnancy however was related to smoking. This study shows that it is difficult to make substance users attend prenatal care, but also that women coping with prenatal care reduce substance intake. Opiate use might be responsible for lower birth weight, although not in a clear dose–response relationship, whereas lifestyle, as represented by not coping with prenatal care and the quantity of cigarette smoking, shortens the length of pregnancy.     

Need for follow up in coeliac disease

The use of follow up studies was evaluated in 128 patients with coeliac disease during their first visit to a department for adults. The original diagnosis had been made in childhood in all patients. Fifty eight (45%) of the subjects were following a gluten free diet, 23 (18%) were following a gluten free diet but with occasional gluten consumption, and 47 (37%) had adopted an unrestricted, gluten containing diet for a mean of 11.2 years. There was no correlation in individual subjects between the presence of symptoms, biochemical and immunological abnormalities, severity of histological findings, and the amount of dietary gluten, despite the greater frequency of symptoms in the group following an unrestricted diet than in the other two groups. Short stature and epilepsy with cerebral calcifications only occurred in patients following an unrestricted diet. As only diagnosis based on two or three biopsy samples and regular follow up correlated positively with dietary compliance, it is suggested that a histologically confirmed diagnosis of coeliac disease and regular lifelong follow up are essential in the management of these patients.     

Features of transient hypogammaglobulinaemia in infants screened for immunological abnormalities

The incidence of transient hypogammaglobulinaemia of infancy (THI) detected in a major paediatric centre over a 10 year period was examined. A total of 2468 subjects less than 2 years of age had an IgG measurement taken between July 1979 and March 1990. Subjects with known immunodeficiencies were excluded. Fifteen patients were classified as having THI with an initial IgG level less than the fifth centile followed by a second measurement within the normal range. A further 24 patients were identified as having possible THI with a single low IgG concentration. There were 60,174 live births each year in Victoria in the years 1979-88. This gives an incidence of proved THI of 23 per 10(6) births, and including proved and probable THI an incidence of 61 per 10(6) live births. Of those patients with proved THI 12/15 had symptoms of either atopic disease or food allergy/intolerance and three had gastrointestinal symptoms without any evidence of atopic disease. At presentation 12/15 (80%) were IgA deficient and 9/15 had IgM concentrations less than the 20th centile for age. It is suggested that in view of the preponderance of atopic and food intolerant patients that subclinical protein loss from the bowel due to allergic inflammation may be a contributing factor to the development of THI in some patients.