Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004153 (atherosclerosis)
 77,401 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Plasma sterol levels in a family of sitosterolemia and xanthomatosis were determined by a high performance liquid chromatography. Three affected siblings manifested marked xanthomatosis including subcutaneous soft tissues and generalized atherosclerosis. Two other siblings as well as children of the patients did not show such clinical symptoms and signs. Plasma levels of cholesterol, sitosterol, campesterol, and cholestanol in three affected subjects were 190 +/- 18.5, 25.9 +/- 11.6, 16.1 +/- 7.8, 1.84 +/- 0.92 mg/dl (mean +/- SD), respectively. Four daughters of the affected subjects, who should be considered as obligatory heterozygotes, showed moderately increased levels of these sterols (195 +/- 41.7, 1.33 +/- 0.44, 1.56 +/- 0.69, 0.80 +/- 0.28 mg/dl), which were significantly higher than those of normal subjects. Treatment with cholestyramine had little effect on the increased plasma plant sterol levels, but markedly decreased plasma cholestanol concentrations in two affected siblings. This report presents the clinical features of the patients with sitosterolemia and xanthomatosis and also demonstrates that heterozygotes with this disorder have increased plasma levels of plant sterols as well as cholestanol, and suggests that this rare disease might be inherited as an autosomal co-dominant trait in certain cases. The data also indicate that cholestyramine administration was not effective in this family for treatment of sitosterolemia.
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PMID:Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis. 238 Jun 36

A long-term hemodialysis patient with a giant intracranial vascular channel, which has been called a giant serpentine aneurysm, is presented. A 50-year-old man with an eight-year history of hemodialysis treatment was admitted because of headache, nausea and double vision. Computed tomographic scans and nuclear magnetic resonance revealed intracranial abnormal shadow. The left vertebral arteriography showed that the distal portion of the left vertebral artery was dilated to 17 mm in diameter. The basilar artery showed a large tortuous vascular channel and globular aneurysms over 25 mm in diameter. This giant serpentine aneurysm is a rather rare disease. To our knowledge, it has not been reported as a complication in a hemodialysis patient, although fourteen cases have been reported in the literature. In our case, several conditions such as long-term hypertension, hyperlipidemia, hypercalcemia, atherosclerosis and abnormal blood flow due to arteriovenous fistula for hemodialysis treatment might be considered to play a role in the formation of the giant serpentine aneurysms.
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PMID:Giant serpentine aneurysm in a long-term hemodialysis patient. 318 May 24

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive sterol storage disease characterized by the accumulation of a bile alcohol, cholestanol, in diverse tissues. The disorder is manifested by extensive nervous system involvement, juvenile cataracts, tendon xanthomas, and premature atherosclerosis and is caused by sterol 27-hydroxylase (EC 1.14.13.15) mutations. Recently, two mutations were shown to cause CTX in four Jewish families of Moroccan origin. An additional mutant allele, found in a Jewish family of Algerian origin is characterized here. Sequence analysis revealed a C to T transition at cDNA position 1037 which predicted a threonine to methionine substitution at residue 306 (designated T306M). It is highly suggestive, but not definitive, that this transition is the mutation causing CTX in this family. A search for additional cases from Jewish families of North African extraction identified five new families including 10 cases. The three sterol 27-hydroxylase gene mutations account for all 10 CTX families and their presence may suggest the existence of positive selective forces that lead to an increased prevalence of this relatively rare disease in Jews from North Africa.
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PMID:Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin. 801 82

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy) is a newly discovered inherited cerebrovascular disease characterized clinically by recurrent stroke-like incidents, dementia and often pseudobulbar palsy. Neuroimaging reveals intensive subcortical changes and pathologically one finds apparently systemic changes concerning the vessels such as thickening of the vessel wall, loss of smooth muscle cells and patches of granular material of unknown origin. The disease is not associated with atherosclerosis and vascular risk factors are missing or few. The CADASIL-locus maps to chromosome 19, but the gene has not yet been identified. Treatment and pathogenesis are unknown. In a Danish stroke population (The Copenhagen Stroke Study) no CADASIL-suspected cases were found among patients < or = 55 years, indicating a rare disease as far as Denmark is concerned.
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PMID:["CADASIL"--a newly discovered hereditary cerebrovascular disease]. 952 53

Juxta-renal abdominal aortic occlusion is a relatively rare disease. We have treated 27 patients (25 males and 2 females) since 1984. Operations were performed on 25 patients, of whom 4 died and 84% improved. The main etiology was aorto-iliac stenosis or occlusion due to atherosclerosis and Takayasu's arteritis. Diagnostic basis included ischemia of lower limbs, pulselessness of abdominal aorta and both femoral arteries, sexual dysfunction, and positive result of angiography. Effective control of aorta below the left renal vein, aortotomy and retrograde endarterectomy were the main operative procedures. Axillo-bifemoral arterial bypass is recommended for patients associated with multiple diseases. The operative result is determined by associated diseases and the condition of run-off vessel. Associated diseases directly affect the mortality rate.
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PMID:[Surgical treatment of juxta-renal abdominal aortic occlusion: report of 27 cases]. 959 Jul 85

Werner's syndrome or progeria, described for the first time in 1886, is a rare disease with autosomal recessive transmission, characterized by premature ageing of connective tissues. About 200 cases have since been reported in the literature. Most patients die young, generally from heart failure due to early coronary atherosclerosis [1]. The authors report the case of a 46-year-old woman presenting with cardiovascular abnormalities, unusual for her age, associated with a particular morphotype belonging to Werner's syndrome.
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PMID:[Werner's disease presenting as ischemic mitral incompetence]. 1255 82

Hereditary homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a rare disease (about 1:20000 in Germany) often complicated by thromboembolism. Single mutations, which affect the C-terminal region of the CBS enzyme, lead to isolated thrombosis without further symptoms typical for homocystinuria such as atherosclerosis, psychomotor retardation, and dislocation of the ocular lenses. In this study, DNA samples of patients with stroke (n = 225) and sinus thrombosis (n = 46) were screened for the most common homocystinuria mutation, CBS 1278T. In each group one homozygous patient was identified. Thus, not only C-terminal mutations but also the most common mutation in classical homocystinuria, CBS 1278T, can lead to isolated thrombophilic events. These data support the hypothesis that homocystinuria is an underdiagnosed disease.
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PMID:Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T). 1451 32

We report a case of 58-year-old woman with a ruptured dissecting aneurysm of the middle colic artery (MCA). Her initial manifestation was sudden and severe right-sided abdominal pain, followed by hemorrhagic shock and acute anemia. Abdominal CT showed a right retroperitoneal hemorrhage. Emergency catheter angiography and therapeutic coil embolization of the middle colic artery were performed and micro aneurysms were enhanced in the jejunal branch. Immunological tests showed nothing abnormal. Follow-up angiography after 3 months showed that the micro aneurysms had disappeared. The patient was diagnosed as having segmental arterial mediolysis (SAM), because no definitive evidence of atherosclerosis and polyarteritis nodosa were observed. SAM is a rare disease of unknown etiology. The arterial lesions developing in elderly patients are characterized by segmental lysis of the abdominal splanchnic arteries resulting in aneurysms, and acute bleeding in a skip pattern. Multiple aneurysms and abdominal pain due to the rupture of these lesions in SAM resemble the clinical findings in polyarteritis nodosa. Differential diagnosis of the two diseases is important because steroid therapy is not beneficial for SAM.
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PMID:[A case report of segmental arterial mediolysis]. 1760 60

Sitosterolaemia is an extremely rare autosomal recessive disease, the key feature of which is the impairment of pathways that normally prevent absorption and retention of non-cholesterol sterols, for example plant sterols and shellfish sterols. The clinical manifestations are akin to familial hypercholesterolaemia (such as presence of tendon xanthomas and premature atherosclerosis), but with "normal to moderately elevated" cholesterol levels. The gene(s) causing sitosterolaemia was mapped to the STSL locus on human chromosome 2p21, and mutations in either of the two genes that comprise this locus, ABCG5 or ABCG8, cause this disease. Exact prevalence is unknown, but there are estimated to be 80-100 cases around the world. This rare disease has shed light into the molecular mechanisms that control sterol trafficking in the enterocyte and hepatocyte; ABCG5 and ABCG8 heterodimerise to form a sterol efflux transporter in the liver and intestine. In this review the pathophysiology, clinical manifestations and approach to clinical and laboratory diagnosis of this disease are described.
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PMID:Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis. 1844 Nov 55

Atherosclerosis of the internal mammary artery is a rare disease. We describe a case in which a 41-year-old man underwent coronary artery bypass surgery 23 years after repair of aortic coarctation. The diseased mammary artery was used to graft the left anterior descending coronary artery after intraoperative confirmation of good patency. Early graft occlusion occurred a few days after the operation. This case demonstrates that atherosclerosis affects mammary arteries after long-term repair of aortic coarctation. Such conduits should not be used, even in the presence of good blood flow.
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PMID:Left internal mammary artery atherosclerosis: twenty-three years after repair of aortic coarctation. 1902 32


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