Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bone marrow necrosis (BMN) is a relatively rare entity and has been associated with a poor prognosis. It is most commonly found in patients with neoplastic disorders, severe infections and sickle cell anemia. An unusual case of antiphospholipid syndrome (APS) with extensive bone marrow necrosis is described in a 27 year old woman. The patient presented with severe pancytopenia, some cognitive impairment resulting from a previous cerebrovascular accident, fever, hypertension, dyspnoea, tachycardia, hepatosplenomegaly, and vaginal bleeding. Her laboratory findings included a strongly positive Coombs' test (anti-IgG and anti-C3d), a prothrombin time of 23 seconds and an activated partial thromboplastin time of 45 seconds. Anticardiolipin antibody tests were positive. Antinuclear and anti-DNA antibodies were negative but the anti-SM test was positive. A bone marrow biopsy specimen was reported as showing extensive necrosis. The patient was treated with steroids, transfusion, and plasma exchange with some clinical improvement but her pancytopenia did not respond and necessitated frequent transfusions. This case lends further support to the association between APS and BMN.
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PMID:Bone marrow necrosis in antiphospholipid syndrome. 915 83

We present two cases of bone marrow necrosis not associated with malignancy, infection or sickle cell disease. The first case, a 28 year old woman with the antiphospholipid syndrome and a factor V Leiden abnormality, suffered an illness characterised by multiple organ thromboses, anemia and refractory thrombocytopenia. She had documented bone marrow necrosis of the posterior iliac spine and numerous hot spots on bone scanning suggestive of widespread marrow necrosis. This patient also suffered hepatic infarcts and a miscarriage and may represent an explanation for the previously described "catastrophic antiphospholipid syndrome". The second patient developed widespread bone pain over a three week period, underwent a cholecystectomy and suffered major post-operative complications including a delayed transfusion reaction and disseminated intravascular coagulation. Pancytopenia developed and bone marrow trephines from numerous foci revealed widespread bone marrow necrosis. The only predisposing factor to account for this presentation was that the patient had been sniffing glue for two months prior to the illness, as the foci of necrosis had healed on repeat marrow examination eight weeks later when the patient had abstained from glue sniffing. This case may represent a reversible, toxic cause of bone marrow necrosis.
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PMID:Non-malignant bone marrow necrosis: a report of two cases. 977 Feb 2

Many factors, both intrinsic and extrinsic, may contribute to wound recalcitrance. For example, arterial circulation may be impaired by atherosclerosis, vasospastic disorders, microemboli, thromboangiitis obliterans, vasculitis, sickle cell anemia, and antiphospholipid syndrome, all of which may impair healing. Inflammatory disorders that may lead to recalcitrance include pyoderma gangrenosum and necrobiosis lipoidica. Chronic venous insufficiency, infection, diabetes mellitus, systemic malignancy, malnutrition, and exposure to pressure and shear prolong the healing process. Wounds secondary to primary skin carcinoma will not heal. Calciphylaxis, a life-threatening metabolic disorder, leads to multiple ulcerations that are especially difficult to heal. Knowledge of common factors that lead to wound recalcitrance is essential to the wound care clinician, as accurate diagnosis results in appropriate treatment. To arrive at the diagnosis, the wound care clinician must perform a thorough history and physical examination and order relevant investigative studies. Treatment is based on correction of the identified underlying condition. By utilizing a systematic approach in the management of each patient with a chronic wound, the wound care clinician increases the probability of achieving wound closure.
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PMID:Considerations for the global assessment and treatment of patients with recalcitrant wounds. 1073 37

Vasospasm can have many different causes and can occur in a variety of diseases, including infectious, autoimmune, and ophthalmic diseases, as well as in otherwise healthy subjects. We distinguish between the primary vasospastic syndrome and secondary vasospasm. The term "vasospastic syndrome" summarizes the symptoms of patients having such a diathesis as responding with spasm to stimuli like cold or emotional stress. Secondary vasospasm can occur in a number of autoimmune diseases, such as multiple sclerosis, lupus erythematosus, antiphospholipid syndrome, rheumatoid polyarthritis, giant cell arteritis, Behcet's disease, Buerger's disease and preeclampsia, and also in infectious diseases such as AIDS. Other potential causes for vasospasm are hemorrhages, homocysteinemia, head injury, acute intermittent porphyria, sickle cell disease, anorexia nervosa, Susac syndrome, mitochondriopathies, tumors, colitis ulcerosa, Crohn's disease, arteriosclerosis and drugs. Patients with primary vasospastic syndrome tend to suffer from cold hands, low blood pressure, and even migraine and silent myocardial ischemia. Valuable diagnostic tools for vasospastic diathesis are nailfold capillary microscopy and angiography, but probably the best indicator is an increased plasma level of endothelin-1. The eye is frequently involved in the vasospastic syndrome, and ocular manifestations of vasospasm include alteration of conjunctival vessels, corneal edema, retinal arterial and venous occlusions, choroidal ischemia, amaurosis fugax, AION, and glaucoma. Since the clinical impact of vascular dysregulation has only really been appreciated in the last few years, there has been little research in the according therapeutic field. The role of calcium channel blockers, magnesium, endothelin and glutamate antagonists, and gene therapy are discussed.
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PMID:Vasospasm, its role in the pathogenesis of diseases with particular reference to the eye. 1128 96

Hereditary prothrombotic states of clinical importance include factor V Leiden, the prothrombin 20210A mutation, deficiencies of protein C, protein S, or antithrombin, sickle cell disease, and hyperhomocysteinemia. Major acquired prothrombotic states include cancer, myeloproliferative disorders, the antiphospholipid syndrome, and heparin-induced thrombocytopenia. Because most of the hereditary prothrombic states are not established risk factors for arterial thrombosis, routine laboratory testing in most patients with ischemic stroke should be limited to complete blood count, lupus anticoagulant, anticardiolipin antibodies, and plasma total homocysteine. Additional testing for factor V Leiden, prothrombin 20210A, antithrombin, protein C, and protein S may be indicated for patients under the age of 50 or those with paradoxical cerebral embolism. The treatment of acute ischemic stroke in patients with prothrombotic states is similar to that in patients without an identifiable prothrombotic condition, and may include antiplatelet agents, anticoagulants, or thrombolytic therapy in patients who otherwise meet eligibility criteria. The potential benefit of chronic anticoagulation therapy for the primary or secondary prevention of stroke in patients with prothrombotic states has not been addressed in controlled clinical trials. Specific therapeutic approaches for the prevention of stroke are established for patients with sickle cell disease, myeloproliferative disorders, and heparin-induced thrombocytopenia, and are under investigation for hyperhomocysteinemia and the antiphospholipid syndrome.
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PMID:Prothrombotic States that Predispose to Stroke. 1235 68

Infrequent causes of stroke are likely to be encountered by emergency physicians. Infrequent causes of stroke can be recalled using the ABC-IT mnemonic. Of the many infrequent causes, the five conditions more likely to be encountered are sickle cell anemia, migrainous stroke, antiphospholipid antibody syndrome, arterial dissection, and cocaine-related stroke. Consideration of the use of thrombolytic therapy in a patient with stroke from any cause lies at the forefront of treatment strategy in the emergency department.
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PMID:Infrequent causes of stroke. 1237 66

Although hypercoagulable states are most often associated with venous thrombosis, arterial thromboses are reported in protein S, protein C, and antithrombin III deficiencies, factor V Leiden and prothrombin gene mutations, hyperhomocysteinemia, dysfibrinogenemia, plasminogen deficiency, sickle cell disease, and antiphospholipid antibody syndrome.
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PMID:Coagulopathies and arterial stroke. 1261 91

Osteonecrosis is a clinical entity characterized by death of bone marrow and trabecular bone as a result of disruption of blood supply to the bone (1,2). Other aspects of this condition include avascular necrosis, aseptic necrosis, and osseous ischemic necrosis of bones. Osteonecrosis is classified into two main forms; post-traumatic and nontraumatic. The post-traumatic form of osteonecrosis usually develops as a result of traumatic displacement of bone fragments, which leads to impaired blood supply and ischemia to the affected bone. Osteonecrosis of the femoral head is common following fracture of the femoral neck. A variety of systemic diseases and clinical conditions are associated with nontraumatic osteonecrosis. These include autoimmune rheumatic diseases, alcoholism, pregnancy, Gaucher's disease, thrombophilia, corticosteroid therapy, Sickle-cell anemia, pancreatitis, inflammatory bowel diseases, and use of cytotoxic drugs and others. Idiopathic forms of osteonecrosis have also been reported (2-4). Among the rheumatic diseases, osteonecrosis is strongly associated with systemic lupus erythematosus (SLE) (5). However, osteonecrosis has been diagnosed in patients with primary antiphospholipid syndrome (APS) (6), rheumatoid arthritis (7), and systemic vasculitis (8). This article reviews the causes, clinical and epidemiological features, diagnosis, and treatment options for osteonecrosis among patients with SLE.
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PMID:Osteonecrosis in patients with SLE. 1279 57

The incidence of venous thromboembolism (VTE) is increasing in children as a result of therapeutic advances and improved clinical outcome in primary illnesses that previously caused mortality. VTE is mostly diagnosed in hospitalized children, especially sick newborns with central venous catheters and older children with a combination of risk factors. Infants older than 3 months and teenagers are the largest groups developing VTE. The most important triggering risk factors are the presence of central venous lines, cancer and chemotherapy. Pathological conditions such as severe infection, sickle cell disease, trauma and antiphospholipid syndrome are associated with the presence of a hypercoagulable state in children. The thrombotic risk in otherwise healthy children with a single identified thrombophilic defect appears to be extremely low. Venous thromboembolism in pediatric patients is mainly caused by combinations of at least 2 prothrombotic risk factors for venous thromboembolic events in children are usually associated with underlying clinical conditions and a triggering risk factor. In addition, recurrence of VTE after withdrawal of anticoagulant treatment occurs in about 20% of patients after re-exposure to a triggering risk factor. A non negligible mortality and morbidity is related to VTE in childhood. This supports the need for international multicenter randomized clinical trials to determine optimal prophylactic and therapeutic treatment for children with VTE. Risk factor assessment for VTE in children has to be improved in order to optimize the prophylactic and therapeutic strategies. The specific evolutionary characteristics of the hemostasis in children has to be taken into consideration when a prophylactic or therapeutic strategy is applied.The incidence of venous thromboembolism (VTE) is increasing in children as a result of therapeutic advances and improved clinical outcome in primary illnesses that previously caused mortality. VTE is mostly diagnosed in hospitalized children, especially sick newborns with central venous catheters and older children with a combination of risk factors. Infants older than 3 months and teenagers are the largest groups developing VTE. The most important triggering risk factors are the presence of central venous lines, cancer and chemotherapy. Pathological conditions such as severe infection, sickle cell disease, trauma and antiphospholipid syndrome are associated with the presence of a hypercoagulable state in children. The thrombotic risk in otherwise healthy children with a single identified thrombophilic defect appears to be extremely low. Venous thromboembolism in pediatric patients is mainly caused by combinations of at least 2 prothrombotic risk factors for venous thromboembolic events in children are usually associated with underlying clinical conditions and a triggering risk factor. In addition, recurrence of VTE after withdrawal of anticoagulant treatment occurs in about 20% of patients after re-exposure to a triggering risk factor. A non negligible mortality and morbidity is related to VTE in childhood. This supports the need for international multicenter randomized clinical trials to determine optimal prophylactic and therapeutic treatment for children with VTE. Risk factor assessment for VTE in children has to be improved in order to optimize the prophylactic and therapeutic strategies. The specific evolutionary characteristics of the hemostasis in children has to be taken into consideration when a prophylactic or therapeutic strategy is applied.
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PMID:Risk factors for venous thromboembolism in children. 1576 33

Most ophthalmologic disorders secondary to hypercoagulabe state are due to the confluence of congenital and adquired factors. A systematic workup is mandatory. Most of congenital coagulation disorders cause venous trombosis and are inherited autosomal dominantly. In order of frequency these are factor V Leiden mutation (activated protein C resistance), G20210A mutation of the prothrombin gen and protein C, protein S, and antithrombin III deficiencies. Sickle cell anemia can determine arerial and venous thrombosis. In relation with arterial occlusion, the markers most frequently involved are homcysteine fasting levels and the markers of antiphospholipid antibody syndrome. Both of them can also determine venous thrombosis. Several acquired factors can lead to hypoercoagulable state, especially hyperhomocysteinemia, antiphospholipid antibody syndrome, hepatic disease, alcohol and tobacco intake, oral contraceptives, immobilization, surgeries and malignancies. In central venous occlusion is only necessary to rule out hyperhomocysteinemia and antiphospholipid antibody syndrome in young patients without known risk factors. In central artery occlusion, hypercoagulable workup is only recommended for patients less than 50 years-old with unknown emboli source. In this cases protein C, protein S, and antithrombin III deficiencies, homocystein, sickle cell disease and antiphospholipid antibody syndrome will ruled out. In non arteritic ischemic optic neuropathy hypercoagulable work up is not necessary. In amaurosis fugax without known emboli source, it is recommended to rule out etiologies of arterial occlusion, especially antithrombin III deficiencies, homocystein, sickle cell disease and antiphospholipid antibody syndrome.
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PMID:[Hypercoagulable workup in ophthalmology. When and what]. 1965 50


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