Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015672 (fatigue)
 51,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Six women aged 31 to 70 years had folate deficiency and neuropsychiatric disorders. The three with acquired folate deficiency were depressed and had permanent muscular and intellectual fatigue, mild symptoms of restless legs, depressed ankle jerks, diminution of vibration sensation in the legs, stocking-type hypoesthesia and long-lasting constipation; D-xylos absorption was abnormal. The bone marrow was megaloblastic in only one patient, and she and one other had atrophy of the jejunal mucosa. The third was a vegan. All three recovered after folic acid therapy. The other three were members of a family with the restless legs syndrome, fatigability and diffuse muscular pain. One also had subacute combined degeneration of the spinal cord and kidney disease but no megaloblastosis; she improved spectacularly after receiving large daily doses of folic acid. The other two also had minor neurologic signs, controlled with 5 to 10 mg of folic acid daily. Unrecognized and treatable folate deficiency (with low serum folic acid values but normal erythrocyte folate values) may be the basis of a well defined syndrome of neurologic, psychiatric and gastroenterologic disorders, and the restless legs syndrome may represent the main clinical expression of acquired and familial (or inborn) folate deficiency in adults.
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PMID:Neurologic disorders responsive to folic acid therapy. 95 82

A 40-year-old man who was resected ascending colon and terminal ileum (10 cm) in Aug. 1978, with the diagnosis of Crohn's disease, was admitted to our hospital with general fatigue, paresthesia and tremor in May. 1984. A peripheral blood examination on admission revealed Hb 10.1 g/dl, RBC 234 X 10(4)/mm3, MCV 131.4 fl, MCH 43.2 pg. A bone marrow specimen showed marked erythroid hyperplasia (W/E 1.44) with megaloblastic change. While serum folate level was normal, serum vitamin B12 value was low and Schilling test showed vitamin B12 malabsorption. Roentgenologic and endoscopic examinations revealed diffuse cobblestone appearances in small intestine (from anastomosis part to duodenal bulb). These examinations suggested vitamin B12 malabsorption with diffuse Crohn's disease caused megaloblastic anemia. The patient had been treated with vitamin B12 1,000 micrograms/day injection and, in Sep. 1984, he recovered from megaloblastic anemia (Hb 13.4 g/dl, RBC 440 X 10(4)/mm3, MCV 90.7 fl, MCH 30.4 pg).
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PMID:[Megaloblastic anemia associated with diffuse intestinal Crohn's disease]. 271 98

We describe two patients with methylmalonic aciduria and homocystinuria (Cbl C). The disorder was not diagnosed in patient 1 until 4 1/2 years of age; he had a history of fatigue, anorexia, delirium, and spasticity. Moderate megaloblastic bone marrow changes were observed, and there was hyperreflexia of the lower limbs. His condition improved clinically with hydroxycobalamin therapy. Patient 2 was hospitalized at 6 weeks of age because of lethargy and poor feeding. She was found to have macrocytosis. Despite an initial good clinical response to hydroxycobalamin, she developed a striking pigmentary retinopathy. Methylmalonic aciduria persisted in both patients, and homocystinuria persisted in patient 1 despite therapy. The diagnosis of Cbl C disease has been confirmed in both patients by biochemical studies of cultured fibroblasts, including complementation studies. The differences in age of onset and clinical findings together with the similar biochemical findings in these two patients demonstrate the heterogeneity of phenotypic expression in patients with apparently identical abnormalities of vitamin B12 metabolism.
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PMID:Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria. 395 Aug 20

A seventy-four years old woman is assessed for asthenia, fatigue, non ulcerous dyspepsia with macrocytic anemia. The patient's medical history taking in Binswanger disease--diagnosed 5 aa before-, epilepsy-2 aa before- and a previous episode of TVP of the left leg, suggested the hypothesis that a B12 deficiency, by a chronic gastritis, would involve an increase of homocysteine cause of the clinical manifestations of megaloblastic anemia, Binswanger disease, tardive epilepsy and previous TVP. The fisic and blood and instrumental exams confirmed the clinical diagnosis. The patient is having vitamin B12.
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PMID:[A 74-year-old woman with macrocytic anemia]. 1196 38

The association between dermatomyositis and restrictive cardiomyopathy has not been reported before. We present here the clinical, echocardiographic and muscle biopsy data for a patient with dermatomyositis and restrictive cardiomyopathy. In a 78-year-old male with a history of arterial hypertension, recurrent episodes of atrial fibrillation and syncopes, rupture of an infra-renal aortic aneurysm with complications (recurrent QT-prolongation, lumbo-sacral plexopathy, transient ischaemic attack, peripheral embolism), monoclonal gammopathy, subdural haematoma, focal seizures, megaloblastic anaemia, leucopenia, eosinophilia, elevated muscle enzymes and increasing tiredness, dermatomyositis was diagnosed upon clinical presentation, muscle enzyme and muscle biopsy findings. Cardiological examination revealed atrial fibrillation, left anterior hemiblock and restrictive cardiomyopathy. After the exclusion of various differentials for restrictive cardiomyopathy, a causative relationship between restrictive cardiomyopathy and dermatomyositis was assumed. This case suggests the need for suspecting restrictive cardiomyopathy in patients with dermatomyositis. Patients with dermatomyositis should undergo a comprehensive cardiological investigation as soon as the neurological diagnosis is established.
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PMID:Restrictive cardiomyopathy in dermatomyositis. 1676 71

Local deposition of amyloid without systemic involvement is rather uncommon and has been found in many organs. A 67-year- old man was admitted to our hospital presenting with weight loss, fatigue and poor appetite. Blood work and bone marrow examination revealed megaloblastic anemia. Upper gastrointestinal endoscopy reveeled e purple polypoid wass lesion of 5mm eliameter in the paracardiac region. Histopathologic examination of the gastric biopsy showed the deposition of amyloid materials in the mucosa. The patient had no evidence suggesting systemic amyloidosis. We report a rare case of localized amyloidosis of the stomach. The clinical and pathological features of this rare condition and association with megaloblastic anemia are discussed.
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PMID:Localized gastric amyloidosis: a case report. 1683 Feb 94

A female rheumatoid arthritis patient was admitted for productive cough and general fatigue that had gradually developed after leflunomide therapy. Side effects including severe hypoxia, thrombocytopenia, lymphocytopenia, and macrocytic anemia with schistocytes (probably drug-induced megaloblastic anemia) were noted. Leflunomide-eliminating cholestyramine therapy successfully treated all conditions excluding severe hypoxia, which occurred owing to deteriorating interstitial pneumonia and complicated bacterial pneumonia following antibiotic treatment. This is a rare case of leflunomide-associated multiple hematopoietic impairments.
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PMID:Pancytopenia, including macrocytic anemia, associated with leflunomide in a rheumatoid arthritis patient. 1792 40

A 55-year-old female with a history of psychosis and rheumatoid arthritis was admitted to the hospital for fatigue and dizziness. At admission, macrocytic anemia, high serum lactic acid dehydrogenase (LDH) and gastrin concentrations, decreased serum vitamin B12 concentration, with macroovalocytes and poikilocytes in peripheral blood smear suggested the diagnosis of pernicious anemia. Indirect antiglobulin test (IAT) was negative. Surprisingly, treatment by vitamin B12 and folic acid administered for two weeks was ineffective and followed by transitory worsening of hemoglobin concentration on day 8. Repeat direct antiglobulin test (DAT) and IAT were positive. This immunotransfusion conversion, suggesting the presence of autoimmune hemolytic anemia, could be explained by change in the macroblastic erythrocyte population, i.e. emerging red cells with completely exposed membrane antigens due to vitamin B12 treatment and/or higher degree of dysregulation of the lymphocyte clone secreting erythrocyte autoantibodies. We proposed the coexistence of pernicious and autoimmune hemolytic anemia; therefore, methylprednisolone was added to vitamin B12 treatment. This therapy successfully improved hemoglobin and erythrocyte concentration. Although megaloblastic-pernicious anemia is a common disease, association of pernicious and autoimmune hemolytic anemia with two mechanisms of hemolysis (ineffective erythropoiesis and immune mechanism) is a rare condition, with only several dozens of cases described so far.
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PMID:Combined megaloblastic and immunohemolytic anemia associated--a case report. 1938 72

Megaloblastic anemias are a subgroup of macrocytic anemias, in which distinctive morphologic abnormalities occur in red cell precursors in bone marrow, namely megaloblastic erythropoiesis. Of the many causes of megaloblastic anemia, the most common are disorders resulting from cobalamin or folate deficiency. The clinical symptoms are weakness, fatigue, shortness of breath and neurologic abnormalities. The presence of oral signs and symptoms, including glossitis, angular cheilitis, recurrent oral ulcer, oral candidiasis, diffuse erythematous mucositis and pale oral mucosa offer the dentist an opportunity to participate in the diagnosis of this condition. Early diagnosis is important to prevent neurologic signs, which could be irreversible. The aim of this paper is to describe the oral changes in a patient with megaloblastic anemia caused by a dietary deficiency of cobalamin.
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PMID:Oral manifestations of vitamin B12 deficiency: a case report. 1974 65

Twenty cases of Dyphillobothrium pacificum (fish tapeworm) infections were prospectively studied to determine whether this tapeworm is associated with megaloblastic anemia, as commonly reported for D. latum infections. The most frequent symptoms were fatigue and mild abdominal pain, which were identified in approximately 66.6% of the 18 patients interviewed. Fourteen patients received treatment with niclosamide and all were cured. The other six patients spontaneously eliminated the tapeworms. One patient, who also had chronic diabetes and gastric atrophy, had low vitamin B12 levels and megaloblastic anemia. In all other patients, including three other patients with anemia, baseline vitamin B12 levels were in the reference range and did not significantly change when re-assessed three months later. Unlike D. latum, infection with D. pacificum is seldom associated with megaloblastic anemia or vitamin B12 deficit.
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PMID:Diphyllobothrium pacificum infection is seldom associated with megaloblastic anemia. 2298 55


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