Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Restriction endonuclease analysis was used to detect alpha-gene deletions and to determine the haplotypes in the DNA of the beta S-gene-cluster [Benin, Central African Republic (CAR), and Senegal] in 221 patients with sickle cell anemia (SS). The clinical expression of SS was modified by the beta S-gene-cluster polymorphisms and the alpha-gene status (alpha-thalassemia-2). The overall risk of soft tissue organ failure caused by the obliterative sickle vasculopathy (including stroke, renal failure, chronic lung disease with cor pulmonale, leg ulcers, and young adult death) was increased threefold in those with a CAR haplotype and was decreased in those with a Senegalese chromosome (p = 0.003). In the presence of a Senegalese haplotype, the patient's health is better, and with the CAR haplotype it is always worse. With the Benin, it is intermediate. Acute recurrent clinical events including hospitalized sickle cell crisis, bone infarction, and infection are decreased in frequency in those with a Senegalese haplotype. The risk of most acute events including acute chest syndrome is equivalent in those with Benin or CAR haplotypes. In the United States, alpha-thalassemia-2 is co-inherited randomly among the beta S-gene-cluster haplotypes. Acute events occurring during childhood are minimally effected by this co-inheritance. The risk of soft tissue organ failure is decreased. After the age of 20 years, painful episodes of the lumbar dorsal area are increased in patients who had alpha-thalassemia-2 in association with degenerative bone disease.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Beta S-gene-cluster haplotypes in sickle cell anemia: clinical implications. 170 Jun 39

There is wide variation in the clinical manifestations of sickle cell disease (SCD) from one affected individual to another. Many investigators have sought to discern parameters that would explain this variability. In the present studies we have attempted to correlate the frequency of painful events and the extent of end organ failure in SCD with rheologic properties of packed suspensions of sickle cells, using a magneto-acoustic ball microrheometer developed in our laboratory. Using this device we have measured the steady-state viscosity, and the viscous and elastic moduli of cell suspensions in 16 individuals with hemoglobin SS disease who were untransfused and in their steady state. The rheologic parameters were then correlated with clinical parameters. The clinical parameters measured were emergency department visits, hospitalizations, hemoglobin, reticulocyte count, age, and end organ failure (nephropathy, avascular necrosis of bone, stroke, retinopathy, resting hypoxemia after acute chest syndrome(s), leg ulcer, and priapism with impotence). The P value for the correlation between the steady state viscosity and end organ failure was .001 with a correlation coefficient (R value) of .73. The P value for the correlation between the viscous modulus of viscosity and end organ failure was .00006 with an R value of .83. The P value for the correlation between the elastic modulus of viscosity and end organ failure was .0006 with an R value of .76. However, there was no significant correlation between any component of packed cell rheology and emergency department visits or hospitalizations for pain.
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PMID:Relationship of clinical severity to packed cell rheology in sickle cell anemia. 182 65

Much of the morbidity and mortality in sickle cell disease (SCD) is caused by tissue ischemia and infarction resulting from vascular occlusion. Research in this area has been dominated by the hypothesis that vascular occlusion in SCD is due primarily to microvascular obstruction by sickle erythrocytes (SS RBC), yet there is no direct evidence that microvascular occlusion is responsible for any of the vasocclusive complications of SCD. In this paper an alternate hypothesis is proposed: that thrombotic occlusion of larger arteries and veins is an important factor in many of the vasocclusive complications of SCD. Large-vessel cerebral arterial disease (intimal hyperplasia with superimposed thrombosis) has clearly been established as the most important cause of stroke in SCD, and considerable evidence suggests that pulmonary arterial thrombosis/embolism is a major cause of pulmonary infarction and hypertension. The involvement of large-vessel thrombosis in painful crisis, aseptic necrosis of bone, priapism, leg ulcers, retinopathy, and miscarriage has not been adequately investigated. Large-vessel occlusion in SCD is probably a consequence of the abnormal adhesive and procoagulant properties of SS RBC, which produce endothelial damage, secondary intimal proliferation, and thrombosis. Techniques currently used to treat large-vessel occlusion in other disorders (antiplatelet and anticoagulant agents, thrombolytic therapy, angioplasty, endarterectomy, and vascular bypass surgery) should be considered in sickle cell subjects with large-vessel occlusion, especially in the cerebral vasculature.
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PMID:Large-vessel occlusion in sickle cell disease: pathogenesis, clinical consequences, and therapeutic implications. 189 Sep 82

In 38 diabetic patients, admitted on a long-term basis to a nursing home, the clinical situation and presence of secondary diabetic complications were assessed, and their macrovascular complications and degree of glycemic control compared with those in ambulatory diabetic patients, matched for age, sex, known duration of diabetes and specific antidiabetic therapy. No differences in blood glucose control, plasma triglycerides, blood pressure and serum creatinine were observed between both groups of patients. Plasma cholesterol levels were higher in the ambulatory patients (6.4 +/- 1.0 vs 5.6 +/- 1.1 mmol/l, P = 0.008). Twenty-two nursing home patients had suffered from stroke, against 4 ambulatory patients. Hypertension was found in almost 50% of all patients, whereas its prevalence was highest in the stroke patients (69 vs 36%, P less than 0.01). In the nursing home patients, peripheral vascular abnormalities, skin necrosis or leg ulcers and recurrent urinary tract infections were frequently encountered, whereas in the ambulatory patients cardiac complaints were more prevalent. Use of medication, especially diuretics and anticoagulant agents, was higher in the nursing home patients. Diabetes and the sequelae of its macrovascular complications may greatly impair the quality of life of the diabetic patient, and place a large financial and personal burden on the health care in general. Better identification of diabetic patients with a high risk of stroke is necessary.
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PMID:Clinical characteristics and management of diabetic patients residing in a nursing home. 195 83

Lipodermatosclerosis of the lower extremity, with or without ulceration, is a common manifestation of severe venous disease and the result of sustained venous hypertension. The latter is generally a sequela of deep vein thrombosis. Factors that enhance clot formation or impair fibrinolysis contribute to the pathogenesis of venous disease. It is already established that faulty fibrinolysis may play a pathogenic role in patients with venous disease. We examined the possibility that patients with venous disease have abnormally low plasma levels of proteins C and S, two proteins whose deficiencies have been reported to cause an increased frequency of thromboembolic disease. Using immunologic and functional assays for plasma proteins C and S, we found that 4 (21%) of 19 patients with lipodermatosclerosis and leg ulcers had abnormally low levels of protein C or protein S. One of 7 patients with lipodermatosclerosis without ulceration had a profoundly depressed level of protein C and a history of cerebral stroke at a young age. Plasma levels of protein C were normal in five patients with arterial insufficiency severe enough to cause leg ulceration. We conclude that abnormally low plasma levels of proteins C and S may be found in patients with lipodermatosclerosis and venous ulceration. As with the abnormally low fibrinolytic activity in these patients, our findings indicate a possible propensity for increased thrombotic disease.
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PMID:Protein C and protein S plasma levels in patients with lipodermatosclerosis and venous ulceration. 203 43

The indications and management of blood transfusion in the haemoglobinopathies have been reviewed. The sickle cell diseases that require transfusion support are sickle cell anaemia, sickle haemoglobin-C and -D diseases and sickle beta-thalassaemia. Homozygous beta-thalassaemia (Cooley's anaemia) is the major problem among the thalassaemias. The pathophysiology of the sickle cell disorders is largely based on the secondary effects of increased blood viscosity, whereas in the thalassaemias the defect is ineffective haematopoiesis. In the former the major problems occur as manifestations of vaso-occlusive crises with disseminated bone and abdominal pain, priapism, stroke and leg ulcers. Bone infarction and aseptic necrosis occur but the widespread bone changes, underdevelopment and haemochromatosis that complicate the thalassaemia are not prominent. Transfusion therapy in the sickle cell diseases is mainly episodic and is guided by the frequency of crises and the severity of vaso-occlusive complications. Partial exchange transfusion and the maintenance of haemoglobin A concentrations at 40 to 50 per cent is frequently indicated. In the thalassaemias, maintenance of haemoglobin levels is essential for normal growth and development. The problem of haemochromatosis is very serious. With hypertransfusion regimens the haemoglobin and haemotocrit are maintained above 12-13 g/dl and 35 per cent. The resulting benefit appears to be reduced blood volume, less iron turnover, and less intestinal iron absorption. The splenomegaly in these disorders is frequently associated with hypersplenism requiring well-timed splenectomy. Chronic and intensive chelation is necessary to prevent the ravages of iron overload. The availability of automated equipment for in vivo and ex vivo blood cell separation has brought new possibilities for improving the management of these haemoglobinopathies. It is feasible, but not as yet practical, to offer transfusions of neocytes (red cells with a mean age of 30 days) which have a 50 per cent longer survival than routine red cell preparations (mean age of 60 days). Neocytes can be prepared ex vivo from fresh routine blood donations using blood cell separator devices. The result is reduced transfusion requirements. A more recent suggestion for using the new technology is to remove the patient's oldest and most abnormal corpuscles on the basis of buoyant density and replacing them with neocytes . Thus the short-lived abnormal red cells would be removed before they could unload their iron. With automation it is possible to perform these procedures on an outpatient basis.
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PMID:Transfusion support for haemoglobinopathies. 637 80

The period of adolescence in the patient with sickle cell disease seems to be a period of relative calm, medically speaking. The current 5-year prospective Cooperative Study of the Clinical Course of Sickle Cell Disease should demonstrate the actual spectrum of disease in this age group. The recent literature documents with significant relationship between retardation of growth and sexual maturation in the child with sickle cell disease, an effect which seems independent of the severity of the disease. Several other major problems in the adolescent are discussed, including psychological disturbances, leg ulcers, aseptic necrosis, pulmonary disease, priapism, stroke, cholelithiasis, and birth control. A retrospective series of 76 cases of sickle cell disease is briefly presented and the complication occurring during the second decade of life are reviewed.
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PMID:Problems and complications in the adolescent with sickle cell disease. 709 75

The objective of this study was to determine the prevalence and clinical significance of elevated antiphospholipid antibodies (APA) in a large series of patients admitted to a department of Internal Medicine. At the end of entry phase, 1014 patients were tested (488 males-526 females, mean age: 66.7 years, range 18-97). Seventy-two (7.1%) patients were found APA positive at least once: 44 males and 28 females, mean age 69 years, range 23 to 94. Twenty fulfilled the criteria of Primary Antiphospholipid Antibody Syndrome: 10 patients were referred for deep vein thrombosis, 3 had history of deep vein thrombosis, 1 had both arterial thrombosis and a history of venous thrombosis; 2 had thrombocytopenia; 3 had stroke, 1 had a history of a stroke. One patient had SLE according to ARA classification. The most frequent associated disease was cancer: 14 patients, 9 had evolutive malignant disease, 5 were in clinical remission of neoplasia. Other clinical conditions included chronic and/or acute alcoholic intoxication (n = 8), severe atherosclerosis (n = 4), leg ulcer (n = 4). Insufficient data are available about the evolution, but 7 patients died in the year following diagnosis. Eight patients had fluctuations in APA detection: 2 initially APA positive became negative, 5 initially negative became positive and 1 patient was alternatively positive, negative and positive without steroid treatment. Thus, as expected, APA occur in a variety of clinical disorders. The association with cancer or alcoholic intoxication deserves further investigations.
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PMID:A prospective epidemiological study on the occurrence of antiphospholipid antibody: the Montpellier Antiphospholipid (MAP) Study. 798 47

The article addresses the opportunity for companion studies as challenging instrument for the development of nursing research. Three models of study actually being conducted in Italy are presented and discussed for their specific technical aspects and with respect ot their broader implications: a) on quality of life for myocardial infarction patients (GISSI-Nursing); b) on the presence and evolution of some problems: pain, leg ulcers, treatments side effects and quality of life for chronic limb ischemia patients (i.c.a.i. Nursing); c) on epidemiology of nursing intervention for stroke patients (MAST-Nursing).
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PMID:[Nurses and medical research]. 817 Dec 43

To compare the features of sickle-cell anemia in Brazil with those in other locales, we studied the effects of the beta-globin-like gene cluster haplotype and alpha-thalassemia upon the clinical and hematological features in 85 patients. The distribution of haplotypes differed from that in the United States and Jamaica. The Central African Republic (CAR) haplotype predominated; 34% of patients were CAR haplotype homozygotes, 45% CAR/Benin homozygotes, and 11% Benin homozygotes. No Senegal haplotype chromosomes were observed. Alpha-thalassemia was present in 17.5% of patients. HbF levels were higher in Benin homozygotes, compared with the other two groups (P < 0.05). Nearly half the patients with a CAR haplotype had leg ulcers, compared to 12.5% of the Benin homozygote group; stroke did not occur in alpha-thalassemia carriers, but neither result was statistically significant. As in other studies, our results indicate that the CAR haplotype may be associated with more severe disease.
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PMID:Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil. 889 30


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