Menkes's syndrome. Report of a patient treated from 21 days of age with parenteral copper

In an infant with Menkes's steely-hair syndrome, early treatment (from 21 days of age) with parenteral copper failed to halt the disease. In addition to urinary tract abnormalities, panlobular emphysema was present a finding not previously noted in the syndrome.     

抗真菌药物的研究II.C-端含氧代赖氨酸二肽的合成及抗白念珠菌活性

引用违法传递概念设计合成了11个C-末端含氧代赖氨酸二肽,进行抗深部致病菌-白念珠菌活性试验,体外实验结果显示极强的抑菌活性,MIC在12.5～0.8μg/disk之间,较母体氧化赖氨酸大50～135倍(克分子比。     

Interaction of platelet factor four with cultured vascular endothelial cells

Platelets secrete a low-molecular-weight protein, platelet factor four (PF-4), which binds to and neutralizes heparin and related sulfated glycosaminoglycans (GAGs). To examine the interactions of PF-4 with the GAGs present on endothelial cell surfaces, we incubated 125I-PF-4 with cell suspensions derived from confluent monolayers of cultured bovine aortic endothelium. Binding of 125I-PF-4 was inhibited by a 100-fold excess of nonradioactive PF-4 and varied with duration and temperature of incubation. At 4 degrees C, binding reached equilibrium at 20 minutes with kd = 2.87 mumol/L and Bmax of 63.83 pmol/10(5) cells. Binding capacity was reduced 83.4% by brief incubation of endothelial cells with trypsin and 46.67% by incubation with Flavobacterium heparinase, but was unchanged by chondroitin-ABCase treatment. At 37 degrees C, PF-4 was internalized by confluent monolayer of bovine aortic endothelial cells primarily through low-affinity adsorptive endocytosis. The internalized PF-4 was degraded to amino acids and small peptides with 50% conversion after 18-hour incubation. These studies demonstrate that a secreted platelet protein can bind to and enter endothelial cells. Binding may explain the rapid clearance of released PF-4 from plasma and could have important local effects on endothelial structure and function.     

Quantification of diffuse and focal delta activity in hypsarrhythmia

In order to determine whether or not there is any correlation between the various aspects of hypsarrhythmia and the etiology, we studied one of the major components of this pattern, delta activity, in patients with infantile spasms. In 3 different etiologic groups of patients (prenatal, perinatal and cryptogenic) we divided this activity into 2 types: diffuse (DSA) and focal slow activity (FSA). These two activities were quantified in 3 consecutive minute periods of wakefulness, drowsiness and slow sleep. The mean values of DSA and FSA remained unchanged during the 3 consecutive minute periods and in the different stages of vigilance. DSA and FSA differed significantly according to the etiology, with a predominance of DSA in the cryptogenic group and of FSA in the prenatal group. DSA was not correlated with either sex or age. The focal component seems to be related to brain lesions, whereas the diffuse component appears to be as a stereotyped neurophysiological phenomenon independent of brain lesions, sex or age.     

Nonconvulsive status epilepticus: Epilepsy Research Foundation workshop reports.

In April 2004, a group of physicians with an interest in nonconvulsive status epilepticus representing a spectrum of opinion met in Oxford, sponsored by the Epilepsy Research Foundation (a charitable organization), to discuss and debate the definition, diagnosis and treatment of nonconvulsive status epilepticus. We felt that such a meeting would be useful, as nonconvulsive status epilepticus is a subject that provokes strong reactions, perhaps largely due to the relative lack of evidence and the surfeit of opinion. The meeting was arranged such that there were formal talks followed by a discussion led by one of the attendees. We present here the extended abstracts of the main talks with the points raised by the discussants. Despite disagreements on certain issues there was much in the way of consensus. First, it was agreed that nonconvulsive status epilepticus is a term that covers a range of disparate conditions with varying prognoses and treatments. The agreed definition was thus suitably vague, A. Secondly, it was agreed that even within a specific condition (e.g. complex partial status epilepticus), the prognosis and treatment depends upon the context in which the condition occurs (e.g. in the critically ill, in coma, in the A and in people with prior epilepsy). Perhaps, most importantly it was agreed that we lacked good clinical data, and the challenge was to design good studies for a condition that is underrecognised and often difficult to diagnose.     

Proposal of an algorithm for diagnosis and treatment of neonatal seizures in developing countries

Seizures in the neonatal period are common. They can be caused by a variety of conditions, ranging from benign, self-limited illnesses to severe, life-threatening disorders. They are often the first sign of neurologic dysfunction in neonates, and may be used as one factor in considering long-term prognosis. An important mission of the International League Against Epilepsy (ILAE) is to improve the care of patients with epilepsy. Most recently, as part of the Global Campaign against Epilepsy, ILAE, in conjunction with the World Health Organization (WHO), established a new initiative to create clinical guidelines and diagnostic and management algorithms for the care of patients with seizures that can be applied worldwide, including in developing countries with limited or varied medical resources. Created by an international panel of experts in seizure management and guideline development, this document proposes guidelines for the diagnosis and management of the most common and important conditions that cause seizures in the neonatal period. The publication of these clinical pathways for neonatal seizures will be followed by a period of field testing and comment by WHO clinicians and officials before finalization.     

Inheritance of arterial lesions in renal fibromuscular dysplasia

We have previously shown that patients with renal fibromuscular dysplasia (FMD) have asymptomatic carotid lesions and that familial forms may occur. The objective of this study was to test whether carotid lesions could be detected in relatives of familial cases. High-resolution echotracking of the carotid artery was performed in 47 relatives of 13 cases from six families. This non-invasive investigation led to a semiquantitative arterial score that was compared with that obtained for 47 controls matched for age and sex and that for 125 sporadic cases. Familial resemblance was tested by using a generalized estimating equation approach taking into account the clustering of scores in families. As expected, FMD cases had a significantly higher score than controls (4.02 vs 2.52, P<10(-5)). Familial cases were not significantly different from sporadic cases. Of interest, the 47 apparently healthy relatives of familial cases had also a high carotid score (4.17), very significantly higher than that of controls (2.52, P<10(-5)) even though lower than the corresponding index FMD cases (4.81, P=0.01). Segregation analysis showed that 52% of the descendants of subjects with a score >4 had a score >4, a proportion consistent with autosomal-dominant transmission of the trait. Altogether these results strengthen the hypothesis of renal FMD being a systemic arterial disease and argue for a familial resemblance that may be due to a major genetic effect. The carotid score obtained by high-resolution echotracking may provide a non-invasive surrogate marker for renal FMD of potential value for use in linkage strategies on large pedigrees.