Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The physiologic mechanisms that influence plasma levels of von Willebrand factor (vWF) are poorly understood but include race, blood group, age, pregnancy, exercise, and adrenergic and neurohumoral stimuli. Inherited abnormalities in von Willebrand's disease (vWD) are associated with a defect of the vWF gene on chromosome 12, but in some cases, coexistence of impaired response of plasminogen activator and telangiectasia suggests the presence of a regulatory defect or more extensive endothelial perturbation. Three broad types of vWD are recognized; in addition, a platelet-type vWD (pseudo-vWD) is due to an abnormal platelet receptor for vWF. The prevalence of vWD, which is difficult to determine because of variations in severity even within a kindred, is reportedly as high as 1%. In a survey of European patients, the prevalence of treated vWD varied from 4.5 to 24 per million. Preliminary results of an international survey of vWD indicate that about 3% of treated patients have seroconversion to human immunodeficiency virus, 50% of whom have symptoms. Inhibitor of vWF occurs in type III vWD after treatment and is associated with the presence of gene deletions. Acquired vWD may complicate lymphoproliferative and autoimmune disorders, and proteolytic degradation of vWF complicates myeloproliferative disorders. The level of vWF is increased during pregnancy and in vascular and other disorders; it may be involved in the pathogenesis of atherosclerosis. High-molecular-weight multimers of vWF and a cofactor are thought to promote the formation of microthrombi in thrombotic thrombocytopenic purpura and the hemolytic uremic syndrome. Thus, study of vWD has shed light on pathogenetic mechanisms in a wide range of disorders.
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PMID:von Willebrand factor: clinical features of inherited and acquired disorders. 207 62

Experiments on rabbits have shown that state of T-immunodeficiency induced by persisting virus infection promotes atherogenesis. Correction of age immunodeficiency by transplantation of the autologous bone marrow taken in young age considerably retards the atherosclerosis development. Inhibition of atherogenesis is also achieved by introduction (to animals) of natural thymic vilosene preparation which compensates a decrease in the functional activity of the thymus gland occurring under conditions of experimental hyperlipidemia.
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PMID:[Relation of atherogenesis and T-immunodeficiency]. 259 81

Although genetic factors may be essential in only a fraction of common cancers, it is important to identify individuals who merit genetic evaluation. The occurrence of cancer in an individual under one of the following circumstances may indicate an increased susceptibility to malignancy as a result of predisposing factors: cancer in both of paired organs, thought not to be the result of metastasis; more than one focus of cancer in a single organ (multifocal tumors); histologically similar malignant neoplasms in different parts of the same organ system; two histologically distinct cancers (multiple primary malignancies); cancer at an atypical age; at an atypical site; in the usually less often affected sex; associated with birth defects; associated with precursor lesions; in a person with immunodeficiency; or in a patient with one of the 200 Mendelian disorders where cancer is part of the clinical picture or a frequent complication. At risk are first-degree relatives of people who meet any of the above criteria. Also, a person should be considered at risk if two first-degree relatives had any form of cancer. A strategy to control cancers utilizing genetic knowledge should include such measures as: genetic counseling of individuals at risk for specific cancers because of a congenital or genetic disease in themselves or their relatives, or because of the pattern of cancer occurrence in the family; prenatal diagnosis for families with genetic conditions that predispose to cancer and are amenable to prenatal testing; surveillance of high-risk individuals to detect early manifestations of new or recurrent disease; prophylactic removal of the target organ or tissue in appropriate cases; limiting exposure of high-risk individuals to known carcinogens or supplementing diets of high-risk individuals with anticarcinogens; and educational and administrative measures to promote practical application of genetic knowledge and to increase awareness of genetic factors in the etiology of cancer. Far from all individuals who are exposed to carcinogenic factors contract cancer, and in another common disease, atherosclerosis, it is well known that there is genetically determined variation in response to environmental or lifestyle factors that can cause disease. The emerging fields of human ecogenetics and predictive testing together with research progress in medical and molecular genetics are likely to improve greatly the possibilities for utilizing genetic knowledge to control cancer.
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PMID:Strategies to control cancer through genetics. 333 97

We report a 37-year-old man with cerebral infarction due to meningovascular neurosyphilis. He developed right hemiplegia and motor aphasia preceded by left retroorbital pain lasting a month. Bilateral tonic pupils were also observed. Magnetic resonance imaging (MRI) disclosed cerebral infarction in the distribution of perforating branches of the left middle cerebral artery. Abnormal enhancement was absent in the meninges on T1-weighted MRI examination. SPECT study with I-123 iodoamphetamine showed decreased perfusion in the area of the left middle cerebral artery on early phase. A delayed SPECT 4 hour later demonstrated redistribution of the cerebral blood flow in the area of its cortical branches. On cerebral angiograms, marked stenoses were disclosed at the supraclinoid segments of the bilateral internal carotid arteries as well as the M1 segment of the left middle cerebral artery. These stenoses were associated with increased collateral circulations on the left side. Atherosclerosis was not apparent, on angiography. The cerebrospinal fluid (CSF) showed pleocytosis and positive TPHA. The CSF/serum ratio of TPHA was 1/16. Oligoclonal IgG band was present in the CSF. CSF IgG index was elevated. These findings were consistent with meningovascular neurosyphilis. Causes of angiitis other than syphilis were excluded. A test for antibodies against human immunodeficiency virus was negative. The clinical course of his recovery was similar to that in patients with atherosclerotic thrombosis. The stenosis of the right internal carotid artery demonstrated by angiography could not be expected from the clinical manifestations and SPECT study.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Bilateral internal carotid artery stenoses in a patient with meningovascular neurosyphilis]. 826

Human immunodeficiency virus can be associated with vascular manifestations such as arteritis mainly with cerebrovascular localization, arterial aneurysms or accelerated formation of atherosclerosis lesions. Red fingers syndrome has been recently described in i.v.-drug patients with HIV and hepatitis C infection. We report a new case in a 36-year old woman, and suggest that this syndrome must be considered as a new microcirculatory manifestation of HIV infection. Red fingers syndrome in patients with HIV is likely secondary to co-infection with hepatitis C or immunological disturbances-associated such as cryoglobulinemia.
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PMID:[Red fingers syndrome in the course of HIV infection. A new case]. 912 Mar 72

Hemodialysis vascular access-related problems account for most hospitalizations in chronic hemodialysis patients. Although some co-morbid risk factors for early fistula failures have been described, a great deal of unknown exists as to why access survival is favorable in some patients. In this longitudinal study, fistulae patency and thrombosis episodes were monitored from placement date in three groups of end-stage renal disease (ESRD) patients who have been on dialysis for > or =90 days. Thirty-six patients (29 male; 80%) with a mean age of 42+/-2 years were monitored. The groups consisted of eight patients with biopsy-confirmed focal segmental glomeruloscierosis (FSGS), 13 with acquired immunodeficiency syndrome-related nephropathy (human immunodeficiency virus [HIV]), and 15 with hypertensive ESRD (hypertensive nephrosclerosis [HTN]) who served as controls. Diabetics and patients aged > or =64 years were excluded. Twenty-five of 36 (69%) fistulae were prosthetic (AVG), while 11 (31%) were native (AVF). The FSGS group was more likely to have an AVG (87.5%), while 54% of the HIV group had an AVG. The thrombosis event rate was significantly greater among the FSGS patients (3/patient-year) than the HIV (0.15/patient-year) and HTN (0.5/patient-year) patients (P < 0.0001 and P < 0.002, respectively). The mean thrombosis-free duration for both AVG and AVF among the HIV and HTN groups were 318.5+/-17 days and 311.7+/-22.5 days, respectively. These were significantly greater than in the FSGS group (26.5+/-7 days; P < 0.0001). The cumulative 1-year patency rate for AVG among the HIV and HTN groups was 85% and 65%, respectively, while that of the FSGS group was 0%. Kaplan-Meier hazard analysis showed that all groups were at risk of access thrombosis as time progressed, but the FSGS group had the highest risk of access thrombosis, which began from the date of placement and increased exponentially with time. The increased thrombosis rate among the patients in the FSGS group correlated with their weight (R = 0.8, P = 0.003) and pre-ESRD 24-hour urinary protein excretion (R = 0.9, P = 0.001). The HIV status appeared to confer enhanced hemodialysis access survival. This may be related to the high rate of native fistulae placement and favorable vascular reactivity to shear stress. Accelerated atherosclerosis and small caliber vessels may be responsible for the poor fistulae outcome among the FSGS group. More studies will be necessary to further explore these findings.
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PMID:Hemodialysis vascular access: variable thrombus-free survival in three subpopulations of black patients. 946 95

Cyclin-dependent kinases (CDKs) trigger and co-ordinate the cell division cycle phases. They also play a role in neuronal cells and in the control of transcription. Intensive screening has led in the past few years to the identification of a series of chemical inhibitors of CDKs. Some of these compounds display remarkable selectivity and efficiency (IC50 <25 nM). Many have been co-crystallised with CDK2, and their atomic interactions with the kinase have been analysed in detail: all are located in the ATP-binding pocket of the enzyme. These inhibitors are antimitotic, they arrest cells in G1 and, at higher doses, in G2/M. Furthermore, they facilitate or even trigger apoptosis in proliferating cells. In contrast, they protect neuronal cells from apoptosis. The potential use of these inhibitors is being extensively evaluated in cancer chemotherapy (clinical trials, Phase I and II). Possible clinical applications are being investigated in other fields: cardiovascular (restenosis, tumoural angiogenesis, atherosclerosis), nephrology (glomerulonephritis), dermatology (psoriasis), parasitology (unicellular parasites such as Plasmodium, Trypanosoma, Toxoplasma, etc.), neurology (Alzheimer's disease), viral infections (cytomegalovirus, human immunodeficiency virus, herpes). We anticipate the discovery of novel selective and powerful inhibitors in the near future, and hope for their efficient applications in various human diseases.
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PMID:Properties and potential-applications of chemical inhibitors of cyclin-dependent kinases. 1045 5

Atherosclerosis is an inflammatory disease which displays features of immune activation both locally and systemically. In the present review, we discuss the evidence for immune activation in human disease and experimental models, and survey candidate antigens associated with atherosclerosis. Studies of atherosclerosis in genetic models of immunodeficiency are analysed, as well as immunomodulating therapies and immunization protocols. Based on recent research, it is concluded that immunomodulation represents an interesting approach to the development of new prevention and treatment methods for atherosclerosis.
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PMID:Immunomodulation of atherosclerosis: myth and reality. 1076 58

Chemokines are small peptides that are potent activators and chemoattractants for leukocyte subpopulations and some nonhemopoietic cells. Their actions are mediated by a family of 7-transmembrane G-protein-coupled receptors, the size of which has grown considerably in recent years and now includes 18 members. Chemokine receptor expression on different cell types and their binding and response to specific chemokines are highly variable. Significant advances have been made in understanding the regulation of chemokine receptor expression and the intracellular signaling mechanisms used in bringing about cell activation. Chemokine receptors have also recently been implicated in several disease states including allergy, psoriasis, atherosclerosis, and malaria. However, most fascinating has been the observation that some of these receptors are used by human immunodeficiency virus type 1 in gaining entry into permissive cells. This review will discuss structural and functional aspects of chemokine receptor biology and will consider the roles these receptors play in inflammation and in infectious diseases.
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PMID:Chemokine receptors and their role in inflammation and infectious diseases. 1080 66

Thrombosis of upper extremity arteries is most commonly due to atherosclerosis of the proximal subclavian artery, trauma, or catheter-related injury. In the absence of an identifiable cause, a search for a hypercoagulable state is indicated. Hematologic manifestations of human immunodeficiency virus (HIV) infection and AIDS are frequent occurrences (Coyle TE. Med Clin N Am 1997;81:449-476). The most important of these are cytopenias (anemia, neutropenia, and thrombocytopenia). The incidence and severity of cytopenia are generally correlated to the stage of the HIV infection. In addition, various coagulation abnormalities have been reported in HIV-infected patients. Apart from thrombocytopenia, these have included a prolonged APTT due to the presence of lupus anticoagulant, an increased prevalence of protein S and heparin cofactor II deficiency, and hypoalbuminemia-related fibrin polymerization defects (Toulon P. Ann Bio Clin (Paris) 1998;56:153-160). HIV infection has also been associated with endothelial dysfunction. Although for the most part asymptomatic, elevated D-dimer levels have been found in HIV-infected patients, suggesting the existence of a prethrombotic state. In fact, clinical thrombosis eventuates in 2% of these patients (Toulon, 1988). Documented thromboses have involved both veins and arteries. We hereby present a patient who developed an acute thrombosis of his brachial artery as the initial manifestation of HIV infection.
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PMID:Acute brachial artery thrombosis as the initial manifestation of human immunodeficiency virus infection. 1081 96


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