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)

In the past different terms have been used to define the vascular malformations of Dieulafoy's disease--for example, calibre persistent artery of the stomach, cirsoid aneurysm and gastric atherosclerosis. A case of Dieulafoy's disease is described in a 41 year old man, who presented with symptoms of anaemia and melaena, with particular attention paid to the morphological characterisation of the vascular histological lesions. Intimal hyperplasia with a non-concentric proliferation of myointimal cells, areas of muscular degeneration, aspects of vascular neoformation of the arterial wall, and other findings are reported. An association between an early diffuse adenocarcinoma and parietal anomalies of Dieulafoy's disease is illustrated.
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PMID:Dieulafoy's disease associated with early gastric cancer. 773 Apr 91

The majority of hemodialysis patients die from cardiovascular disease. However, the contribution of myocardial infarction to mortality is relatively minor, despite the fact that coronary artery disease is common in uremic patients. Hypertension seems to be the major risk factor for the development of atherosclerosis in hemodialysis patients, although abnormalities of the lipid spectrum, characterized by an increase in triglycerides and very low density lipoprotein levels and a decrease in high-density lipoprotein levels, are frequent in hemodialysis patients. The existence of left ventricular (LV) hypertrophy is a serious risk factor for morbidity and mortality in hemodialysis patients. LV hypertrophy can present as a dilated cardiomyopathy or as concentric or asymmetric septal hypertrophy. Loss of myocardial contractility by coronary artery disease or carnitine deficiency can lead to systolic LV dysfunction with a compensatory dilated cardiomyopathy. Furthermore, the presence of a hypercirculation in uremic patients, resulting from anemia, the arteriovenous fistula, or fluid overload, can also lead to a dilated cardiomyopathy. Systolic LV dysfunction occurs when the increase in LV wall thickness is inadequate for the increase in LV radius, which might be caused by increased levels of parathyroid hormone. LV diastolic dysfunction, resulting from an increase in LV mass due to the effects of hypertension or to uremic interstitial fibrosis, can both lead to pulmonary edema and hypotensive periods during hemodialysis and is a severe risk factor for mortality in hemodialysis patients. Therefore, in uremic patients, anemia should be corrected and hypertension adequately treated early in the development of renal failure. Chronic fluid overload should be prevented by adequate estimation of optimal dry weight.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Cardiovascular aspects in renal disease. 792 20

28 patients treated by programmed hemodialysis (PH) were followed up from 1985 to 1991. All the patients were over 60 years old. 16 patients died within month 1-60 since PH initiation. Overall PH duration for the whole group reached 24.6 +/- 3.58 months. Pretreatment urea and creatinine in plasma of senile patients were significantly lower than in young patients not resulting, though, in uremia reduction. The findings show that it is not valid to consider creatinine a determinant for starting hemodialysis in senile patients. Despite multimorbidity, more rapid progression of atherosclerosis and complicated establishment of the vascular approach, senile patients successfully adapt to PH regimen, need less numerous weekly PH hours. By anemia manifestations, incidence of hyperparathyroidism and polyneuropathy, senile patients did not differ much from their younger counterparts.
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PMID:[Programmed hemodialysis in middle and old age]. 794 Mar 70

Phytosterolaemia (beta-sitosterolaemia), a rare, autosomal recessive disorder, has not hitherto been reported in Southern Africa. We report four new homozygous patients, from three unrelated families with significant beta-sitosterolaemia (6.6-11.3%), campesterolaemia (2.2-4.6%) and clearly detectable, though unquantified, levels of cholestanol. Three of the four patients had characteristic cutaneous and tendinous xanthomas within the first decade of life. The fourth patient, a 5 year old, was free of xanthomas despite persistently elevated concentrations of plant sterols in her plasma. All our patients were female bringing the male:female ratio in reported cases to 8:23. All were at or below the 50th percentile for height and weight, and presented at some stage with borderline, hypochromic anaemia associated with red cell abnormalities and thrombocytopaenia. The oldest patient showed suggestive clinical evidence of atherosclerosis affecting her aorta, ileofemoral bifurcation and possibly coronary arteries. All homozygotes responded to a diet restricted in phytosterols and the administration of cholestyramine with falls in plasma sterols of up to 68%. The recent discovery of a possible inherited defect in the synthesis of HMG CoA reductase in patients with phytosterolaemia makes this disorder a model system for studying the biological role of this enzyme in regulating the absorption and clearance of sterols other than cholesterol, and the factors governing the sterol composition of cell membranes.
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PMID:Phytosterolaemia in three unrelated South African families. 797 27

The vascular system is naturally dynamic; fluid mechanics and mass transfer are closely integrated with blood and vascular cell function. We are beginning to understand how local wall shear stress and strain modulate endothelial cell metabolism at the gene level. This knowledge may help explain the focal nature of many vascular pathologies, including atherosclerosis. Understanding mechanical control of gene regulation at the level of specific promoter elements and transcription factors involved will lead to development of novel constructs for localized delivery of specific gene products in regions of high or low shear stress or strain in the vascular system. In addition, recent research has shown how local fluid mechanics can alter receptor specificity in cell-to-cell and cell-to-matrix protein adhesion and aggregation. Knowledge of the specific molecular sequences involved in cell-to-cell recognition will allow development of targeted therapeutics, with applications in thrombosis, inflammation, cancer metastasis, and sickle-cell anemia. Bioengineers are uniquely qualified to be leaders in this field, because advances require a synthesis of cell and molecular biology with systems analysis, transport phenomena, and quantitative modeling. Rapid progress in tissue engineering applications will require this new kind of biomedical engineer, which represents both a challenge and an opportunity for our profession.
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PMID:1992 ALZA Distinguished Lecture: bioengineering and vascular biology. 806 23

We describe an elderly patient with generalized atherosclerosis who presented with recurrent iron-deficiency anaemia. He underwent right hemicolectomy which revealed ischaemic colonic ulceration caused by cholesterol embolism. Surgery appeared to be curative. Cholesterol embolism should be considered as a possible cause of unexplained gastrointestinal blood loss in the elderly.
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PMID:Recurrent anaemia due to ischaemic colonic ulceration caused by cholesterol embolism. 832 3

Optic nerve disease has been reported in patients with renal failure. A toxic aetiology has been postulated. The incidence of this complication of renal failure has not been determined. We observed 60 patients with renal failure on dialysis for 24 months to determine the incidence of optic neuropathy. Four patients developed typical acute ischaemic optic neuropathy. Their case notes were reviewed in order to determine the pathogenesis. Each patient had long-standing renal failure and its sequelae of anaemia and hypertension. The immediate causes of ischaemia were hypotension in 1, severe anaemia in 1, and generalised atherosclerosis in 2 patients.
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PMID:Optic neuropathy in uraemic patients on dialysis. 832 6

The actuality of a problem of cytomegaloviral infection in military transfusiology is substantiated by the increasing number of immunocompromised recipients, mass use of hemocomponent therapy in prophylaxis and correction of anemia, thrombohemorrhagic and immunodeficient syndromes. Cytomegaloviral infection in the recipients of hemocomponents may have unfavourable consequences, such as the development of mononucleosis, enhanced sensitivity to opportunistic infectious agents as a result of virus-induced immunodepression, graft rejection, risk of the development of oncologic diseases, atherosclerosis, disorders in the processes of reparation and regeneration. In the northwestern part of Russia the cytomegaloviral antigens are disclosed in 65-75% of men, age 18-23. Actual tasks are the following: put into practice cytomegaloviral antigens test for donors, make a wide use of effective leukocytic filters for leukocyte removal from hemotransfusional medium, minimize posttransfusion immunosuppression, determine recipients who need transfusions of hemocomponents prepared from seronegative donors.
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PMID:[The problem of cytomegalovirus infection in military blood transfusions]. 857 12

In this review, our basic and most recent understanding of copper biochemistry and molecular biology for mammals (including humans) is described. Information is provided on the nutritional biochemistry of copper, including food sources, intestinal absorption, transport, tissue distribution, and excretion, along with descriptions of copper binding proteins and other factors involved and their roles in these processes. The metabolism of copper and its importance for the functions of a roster of vital enzymes is detailed. Its potential toxicology is also addressed. Alterations in copper metabolism associated with genetic and nongenetic diseases are summarized, including potential connections to inflammation, cancer, atherosclerosis, and anemia, and the effects of genetic copper deficiency (Menkes syndrome) and copper overload (Wilson disease). Understanding these diseases suggests new ways of viewing the normal functions of copper and provides new insights into the details of copper transport and distribution in mammals.
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PMID:Copper biochemistry and molecular biology. 861 67

Lecithin:cholesterol acyltransferase (LCAT) is responsible for the formation of the majority of plasma cholesteryl esters. Familial LCAT deficiency is associated with corneal opacity, anemia and proteinurea and typically results in renal failure in the 4-5th decade; this syndrome is equally characterized by the quasi-absence of plasma LCAT activity with variable enzyme mass and very low levels of plasma cholesteryl esters. In this study, we report detailed analyses of plasma lipids and lipoprotein profile in two sisters (CM and ML) presenting classical homozygous LCAT-deficiency; the younger sibling (CM) had proteinurea from an early age whereas the older sister (ML) has never exhibited renal dysfunction. We investigated the molecular defect in the 45 year-old woman (proband CM) exhibiting all clinical and biochemical features of familial LCAT deficiency: a plasma cholesterol level of 105 mg/dl, of which 95% was unesterified, an HDL-cholesterol of 6.5 mg/dl and an apo A-I level of 52 mg/dl. The proband (CM) displayed a plasma cholesterol esterification rate which corresponded to 2% of normal LCAT activity; plasma LCAT protein concentration was 0.56 microg/ml and equivalent to approximately 10% of normal LCAT mass. Analysis by single strand conformation polymorphism (SSCP) of the PCR products corresponding to exons 4 and 5 of the LCAT gene revealed a visible band shift. Sequence analyses of exons 4 + 5 revealed two separate single point mutations: a C --> T transition replacing Arg147 by Trp and a T --> G transition converting Tyr171 to a stop codon. The presence of these two point mutations was confirmed by restriction enzyme analyses: the C --> T transition abolished a MwoI site whereas the T --> G transition created an AvrII site. The Arg147 mutation was associated with a non-secreted protein. The Tyr171 mutation resulted in formation of a truncated protein lacking the catalytic site. In summary, we have identified an LCAT deficient patient corresponding to a compound heterozygote for the Arg147 --> Trp mutation and a new molecular defect involving a Tyr171 --> Stop mutation in the LCAT gene.
Atherosclerosis 1997 May
PMID:Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop). 918 Feb 49


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