Epidemiology of vertically transmitted HIV-1 infection in Switzerland: Results of a nationwide prospective study

A nationwide study involving 286 children of human immunodeficiency virus (HIV)-infected mothers living in Switzerland has been performed with the participation of all paediatricians interested in HIV infection in the country. Of these children 201 could be followed up prospectively from birth up to a median age of 22 months. Prevalence of HIV infection in Swiss parturients was estimated at 0.1% and apparently remained stable from 1986 to 1989. Vertical transmission rate was estimated at 14%–20%. Variables of maternal or perinatal history were not associated with transmission rate. Transmission to pairs of siblings of the same mothers was discordant in 33% (6 of 18), with always the elder sibling being infected. Postneonatal mortality in infants of HIV-infected mothers followed up from birth was increased 15-fold over the general population with a very high incidence (2 in 100) of sudden infant death apparently unrelated to HIV infection.A complete list of all the participants in the study is available on request     

Suicide in epilepsy: psychopathology,pathogenesis, and prevention

OBJECTIVE: Death by suicide among patients with epilepsy has found scant psychiatric attention, yet it may occur at the rate reported among patients with manic-depressive illness. We aim to clarify the psychopathology and pathogenesis of suicide in epilepsy and to document an effective method of prevention.METHOD: A total of 10,739 patients with epilepsy were seen at the Epi-Care Center in Memphis from 1987 to 1999. The patients with significant psychiatric complications were evaluated systematically and treated with an increasingly effective psychopharmacologic approach.RESULTS: Five suicides were registered during the 12-year period. All occurred in patients with longstanding complex partial seizures and dysphoric disorder a short time after full control of the seizures was achieved. During the last 8years of the 12-year period, more effective pharmacotherapy of the psychiatric complications of epilepsy was used (augmented antidepressant medication), and the two suicides that still occurred had eluded this treatment. Review of earlier series confirms that suicide tends to occur particularly among patients with chronic epilepsy who have obtained good control of their seizures; suicide may occur during interictal dysphoric episodes with or without psychotic features or in a state of postictal depression.CONCLUSIONS: Suppression of seizures in longstanding epilepsy may be associated with suicidal risk. The psychotoxic effect of predominant inhibitory mechanisms appears to be the crucial pathogenetic factor in all suicides. The number of suicides in our series is a fraction of that expected based on previous reports and indicates that prevention by psychopharmacologic treatment is available.     

下肢骨肉瘤的MRI与X线对照研究

目的 对比分析下肢骨肉瘤的X线与MRI表现，探讨MRI对骨肉瘤的诊断价值。方法 收集经手术或病理穿刺活检证实的下肢骨肉瘤15例，男11例，女4例，均行MRI平扫及增强扫描（4例行CT扫描），并摄有X线平片，对其MRI征象与X线征象作逐一对比。结果 MRI及X线平片对下肢骨肉瘤的诊断准确率均为100％，MRI在显示病变范围、放射状骨针、Codman三角两层结构以及跳跃病灶等方面明显优于X线平片检查。结论 X线平片是诊断骨肉瘤最简便而实用的方法，但MRI可以更好的显示病变的范围，发现早期病变。     

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。     

一例AML中一种新的TCRδ基因重排及其分析方法

Ｔ细胞抗原受体（ＴＣＲ）功能的表达有赖于该基因在正常Ｔ淋巴细胞发育过程中的重排。近年来，已发现一些肿瘤及白血病中出现该基因的异常重排。我们采用聚合链反应（ＰＣＲ）、“磁珠”固相纯化方法和ＰＣＲ产物直接测序等方法，从一例ＡＭＬ中发现了一种在白血病中未报道过的ＴＣＲδ基因重排，该重排是一种新报道的Ｄδ区ＤδＸ片段的重排，为ＤδＸＤδＤδＪδ不完全重排。在研究白血病ＴＣＲ基因重排中，采用本文所报道的方法     

Doppler Echocardiography During Exercise to Predict Residual Narrowing of the Aorta After Coarctation Resection

Blood pressure measurements and Doppler echocardiography at rest and during exercise were performed in 36 patients at an average 17 years after coarctation resection. Interest focused on the study of Doppler systolic and diastolic gradients and half-times during exercise. Blood pressure gradients and Doppler values were compared with the degree of narrowing at the site of the anastomosis measured by magnetic resonance imaging. A systolic half-time of >110 ms together with a diastolic gradient of ≥17 mmHg on exercise Doppler sonography predicted a residual isthmic narrowing of >30%. We propose the use of this noninvasive method for identifying patients with narrowing of >30% at the site of the anastomosis after coarctation resection. In these cases evaluation by an imaging technique is necessary to confirm the need for surgery.     

Epogam evening primrose oil treatment in atopic dermatitis and asthma

Essential fatty acids are claimed to have positive effects in atopic diseases. In a double blind, placebo controlled, parallel group study 58 out of 60 children, with atopic dermatitis and the need for regular treatment with topical skin steroids, completed a 16 weeks' treatment period with either Epogam evening primrose oil or placebo capsules. Twenty two of these subjects also had asthma. The parents used diaries to record symptom scores and concomitant medication. Peak expiratory flow was measured and disease activity was monitored by the clinician every four weeks. The plasma concentrations of essential fatty acids increased significantly in the group treated with Epogam capsules. The study demonstrated significant improvements of the eczema symptoms but no significant difference was found between the placebo and the Epogam groups. No therapeutic effect was shown on asthma symptoms or fidget.     

Pericardial effusion complicating a percutaneous central venous line in a neonate

A premature infant developed pericardial effusion four days after the insertion of a 25-gauge silastic percutaneous central venous catheter. The effusion contained parenteral nutrition fluid and resolved rapidly after withdrawal of the catheter. Pericardial effusion is a potential complication of percutaneous, as well as surgically placed, central venous catheters.     

The STR system in the human phenylalanine hydroxylase gene: true fragment length obtained with fluorescent labelled PCR primers

We present a simple, fast, non-radioactive method for the analysis of the polymorphic short tandem repeat (STR) system in the human phenylalanine hydroxylase gene. Previously, sizing of the STR marker involved radiolabelling of PCR amplified fragments and resolution on denaturing polyacrylamide gels using M13 sequencing ladder as a standard. However, this method consistently gave sizes 2 bp longer than the known sequence. The fluorescent method presented here employs internal lane standards and enables accurate sizing of the fragments. To avoid confusion, we suggest that the true fragment lengths are used as reference values in the future. The analysis of STR alleles is valuable for population genetic studies and for targeted mutation screening in phenylketonuria (PKU). It can replace RFLP-based haplotype analysis for carrier detection, and we report its use for prenatal diagnosis in a Northern Irish family with PKU. The analysis of 250 Northern Irish chromosomes, including 128 PKU alleles, showed no significant difference between normal and PKU alleles, with fragment lengths of 238 and 242 bp most common in both groups.