Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Our ability to identify cerebrovascular lesions in children has improved in recent years and with it our willingness to consider the diagnosis of cerebrovascular disease in children. Magnetic resonance angiography and other tests have made diagnosis easier and safer, particularly in very young children and in patients with sickle cell disease. Transcranial Doppler examination makes it possible to accurately predict without angiography which patients with sickle cell disease are at most risk for stroke. Many patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome have a specific mutation of the mitochondrial DNA, and soon the recently devised diagnostic criteria for MELAS syndrome may be replaced by molecular markers. There are many causes of cerebrovascular disease in children, and a thorough evaluation will discover a likely cause in about two thirds of the patients. Recent attention has focused on the HLA-B51 antigen and chicken pox as possible risk factors. Magnetic resonance imaging is also helpful in assessing the prognosis of children with cerebrovascular disease or head trauma.
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PMID:Cerebrovascular disorders and trauma in children. 812 17

Stroke in children is a relatively uncommon condition and frequently associated with other diseases like cardiopathies, sickle cell disease and chronic smoking. In contrast to stroke in adults, it is rarely caused by atherosclerosis, hypertension or diabetes mellitus. Childhood stroke of unknown causes is called idiopathic stroke. The etiology of idiopathic stroke is unknown. However, several so-called idiopathic diseases develop on the basis of a genetic predisposition. As an approach to investigate this possibility in idiopathic childhood ischemic stroke, we studied the relationship between clinical and immunogenetic features in this disease. We demonstrate that the gene frequencies and relative risk of HLA-B51 were markedly increased in our patients compared with controls (p < 0.001). Thirteen of seventeen HLA-B51-positive patients had had a preceding respiratory infection, which was a higher proportion than in the control group (p < 0.05). In the patient group, the alleles HLA-DRB1*0802, -DRAI*0401 and -DQBI*0402 were also significantly increased, defining the haplotype DRB1*0802-DRA1*0401-DQB1*0402 as a high-risk haplotype for idiopathic childhood ischemic stroke. Transient viral or bacterial infections, which involve vasculitis and vascular occlusion in the brain, can trigger idiopathic childhood ischemic stroke on the basis of an genetic predisposition.
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PMID:Evidence for human leukocyte antigen-related susceptibility in idiopathic childhood ischemic stroke. 1237 32