Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four adult female patients with moyamoya vessels are described. Hypertension and hyperlipidaemia were discovered in three patients. Vessels similar to moyamoya vessels were seen in the orbital and cortical collateral vessels as well as in the basal ganglia region. Attention should now be paid to the aetiological rather than the descriptive aspects of the disorder. An empirical trial of corticosteroids is worth while. Risk factors such as hypertension, hyperlipidaemia, and smoking should be eliminated.
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PMID:Multiple progressive intracranial arterial occlusions ('moyamoya' disease). 59 61

Stroke in young adults is an important cause of lifelong morbidity. The aim of this study was to explore some possible admission indicator of subsequent lacunar or non-lacunar strokes. We enrolled 626 patients with the first young cerebral strokes and divided them into lacunar and non-lacunar stroke based on clinical presentation and neuroradiological findings; and the analyses were adjusted for the effects of potential confounders. Hypertension, hyperlipidemia, atrial fibrillation, cerebral vascular moyamoya malformation were significantly more frequent in non-lacunar patients than lacunar patients (respectively P=0.005, 0.048, 0.000, 0.015, 0.030). Serum BUN, Triglyceride, Cholesterol, HDL, UA, White cell count, Fibrinogen, INR and bilirubin (including Total bilirubin, Direct bilirubin, Indirect bilirubin) levels on admission were higher in non-lacunar strokes than in lacunar strokes. Serum white blood cell count (Odds Ratio 1.097; 95% Confidence Interval 1.006-1.195, P=0.035), lower high-density lipoprotein levels (defined as HDL<0.9 mmol/L) (Odds Ratio 1.884; 95% Confidence Interval 1.035-3.285, P=0.038) and serum total bilirubin (Odds Ratio 1.054; 95% Confidence Interval 1.019-1.091, P=0.003) were associated with increased risk for non-lacunar stroke, whereas lacunar stroke was related to age at onset (Odds Ratio 0.929; 95% Confidence Interval 0.888-0.972, P=0.001) and SUA (Odds Ratio 0.997; 95% Confidence Interval 0.995-0.999, P=0.015). The excess risks were blood WBC, lower HDL and total bilirubin levels for non-lacunar strokes, and serum UA and age at onset for lacunar strokes in young Chinese patients.
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PMID:Admission markers predict lacunar and non-lacunar stroke in young patients. 2142 66

Moyamoya disease is a rare chronic and progressive cerebrovascular disease of the arteries of the circle of Willis that can affect children and adults. It has been associated with multiple diseases, including immunologic, like Graves' disease, diabetes mellitus, and SLE. Hyperlipidemia has been recognized in patients with Moyamoya disease with an incidence of 27-37%. However, no case in pediatric patients has been reported of the coexistence of Moyamoya disease and hyperlipidemia. Here we present a case of a 9-year-old female diagnosed with Moyamoya disease after a stroke with incidental finding of familial hypercholesterolemia. This finding will make our patient a very unique case, since there has not been any reporting of Moyamoya disease and hypercholesterolemia association.
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PMID:Moyamoya Disease with Coexistent Hypertriglyceridemia in Pediatric Patient. 2784 55

Background: Alagille syndrome (AGS) is an autosomal-dominant, multisystem disorder caused by mutations in the JAG1 gene. Case Description: A 34-year-old man was referred to our service 10 years ago with focal seizures with impaired awareness and transient slurred speech. He had a 5-year history of intermittent left monocular low-flow retinopathy. He has a family history of AGS. General examination revealed mild hypertension, aortic regurgitation, and livedo reticularis. Neurological examination was normal. Investigations: He had mild hyperlipidaemia and persistently-positive lupus anticoagulant consistent with primary anti-phospholipid syndrome. Color Doppler ultrasound revealed low velocity flow in a narrowed extracranial left internal carotid artery (ICA). MR and CT angiography revealed a diffusely narrowed extracranial and intracranial left ICA. Formal cerebral angiography confirmed severe left ICA narrowing consistent with a left ICA "vasculopathy" and moyamoya phenomenon. Transthoracic echocardiogram revealed a bicuspid aortic valve and aortic incompetence. Molecular genetic analysis identified a missense mutation (A211P) in exon 4 of the JAG1 gene, consistent with AGS. Discussion: AGS should be considered in young adults with TIAs/stroke and unexplained extracranial or intracranial vascular abnormalities, and/or moyamoya phenomenon, even in the absence of other typical phenotypic features. Gene panels should include JAG1 gene testing in similar patients.
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PMID:Extracranial and Intracranial Vasculopathy With "Moyamoya Phenomenon" in Association With Alagille Syndrome. 3076 Oct 79