Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015695 (fatty liver)
 13,941 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three children with Leber's congenital amaurosis, agenesis of the cerebellar vermis, and infantile polycystic kidneys are described. The common clinical findings of three unrelated patients (two boys and one girl) included severe visual impairment from early infancy, profound psychomotor retardation, hypotonia, nystagmus, characteristic facial appearance with blepharoptosis, and progressive chronic renal insufficiency. The two boys died of uremia at ages 13 and 12 years. The common pathological findings in these two patients consisted of minor disproportions of cerebral lobes, almost total aplasia of the cerebellar vermis, micropolygyria of the dentate nuclei, malformations of the brain stem (including pachygyria of the inferior olivary nuclei and partial absence and anomalous position of the pyramidal tracts), and infantile polycystic kidneys; there was fatty liver in one case and hepatic fibrosis in the other. The clinicopathological findings of our two patients were entirely compatible with those of patients previously reported by Arima and other Japanese authors. Therefore, these patients seem to comprise a distinct clinicopathological entity, cerebro-oculo-hepato-renal syndrome (Arima's syndrome), different from other syndromes with retinal, cerebellar, and renal abnormalities.
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PMID:Cerebro-oculo-hepato-renal syndrome (Arima' syndrome): a distinct clinicopathological entity. 359 33

Epidemiological and experimental data have clearly demonstrated a strong association between elevated LDL-cholesterol levels and coronary heart disease. In concordance lipid-lowering trials with statins have shown a significant reduction of cardiovascular events. Although stroke is mainly caused by atherosclerotic vascular events, epidemiolgical data have so far failed to show a significant relationship between elevated lipid levels and stroke incidence. However, recent lipid intervention trials with statins have clearly demonstrated a significant reduction in stroke incidence. Moreover, elevated cholesterol levels are thought to contribute to progression of chronic renal insufficiency. In addition, cholesterol crystal emboli are a rare but frequently serious complication of vascular catheter interventions. Significant hypertriglyceridemia carries a significant risk of acute pancreatitis and is thought to contribute to the development of fatty liver disease.
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PMID:[End-organ damage in hyperlipidemias]. 1463 79