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)

A seven year-old boy with hereditary stomatocytosis complicated with aplastic anemia was reported. He was admitted to our hospital because of pale and general fatigue. On physical examination, he had severe anemia, petechiae, but no hepatosplenomegaly. Peripheral blood cell count revealed pancytopenia; RBC 103 X 10(4)/microliters, Hb 3.5 g/dl, Ret 21%, WBC 1,200/microliters, Pl 1.3 X 10(4)/microliters, and bone marrow revealed markedly hypocellular marrow. Red cell morphology demonstrated stomatocytosis. Red cell life span (51Cr T1/2) was 12 days, Coombs' test and Ham's test were negative. Indirect bilirubin was 1.1 mg/dl and marked decrease of haptoglobin was found. Family studies showed that his father and sister had stomatocytosis on peripheral blood examination, but no anemia. The patient had severe anemia because of complicated aplastic anemia. Congenital stomatocytosis with aplastic anemia is extremely rare. The authors are interested in a possible relationship between hereditary stomatocytosis and aplastic anemia although the precise mechanism remains to be elucidated.
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PMID:[Congenital stomatocytosis associated with aplastic anemia]. 279 85

A 74-year-old man was admitted on November 1986 because of general fatigue. His peripheral blood showed pancytopenia without immature cells since December 1985. Hematological data showed RBC 150 X 10(4)/microliter, PLT 7,000/microliter, WBC 12,000/microliter with 93.6% leukemic cells. The bone marrow smear revealed NCC 14.5 x 10(4)/microliter with 76% leukemic cells. The leukemic cells were characterized by faint staining with peroxidase stain and strong positivity for CD 13 antigen determined with immunoperoxidase method and flow cytometric analysis. The chromosomal analysis of tumor cells represented as follows: 44, XY, -3, -4, -9, -20, 2q+, 6p-, 7q-, 12q+, +2 mar. Although remarkable reduction of leukemic cells in peripheral blood was obtained one month after initiation of 19-days intravenous continuous infusion of N4-behenoyl-1-beta-D-arabinofuranosylcytosine (BHAC), he suffered from severe systemic candida infection with severe leukopenia and died. Not only advanced age but also complex karyotypic abnormality would contribute to failure of treatment in this case. The significance of complex karyotypic abnormality in acute non-lymphocytic leukemia in discussed based on the current literature.
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PMID:[Complex karyotypic abnormality in an aged patient with acute myeloid leukemia (M 2)]. 279 97

A phase I study with human lymphoblastoid alpha-interferon (IFN-alpha) was conducted in 31 patients with malignant tumors. IFN-alpha was administered by intravenous drip infusion, intramuscular injection or local injection. In each patient, the dose was increased in 6 steps from 3 X 10(6) IU/body up to 54 X 10(6) IU/body for the purpose of investigating the safety, optimal regimen, pharmacokinetics and antitumor effect. The following findings were obtained: 1) Fever as a side effect was most frequently (in about 80%) found. However, the temperature did not exceed 40 degrees C in most cases and, on the next day, spontaneously fell to normal. 2) The dose-limiting factors (DLF) may include the subjective symptoms of anorexia, general fatigue and nausea/vomiting and the objective symptom of pancytopenia. 3) The maximum tolerated dose (MTD) was estimated to be between 36 X 10(6) and 54 X 10(6) IU/body per dose. 4) As for the route of administration, the intramuscular one was considered most suitable on the basis of the plasma concentration profile of INF-alpha. It was therefore concluded that the drug may be further submitted to a phase II study which is to be conducted with due consideration of its safety.
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PMID:[Phase I study of human lymphoblastoid alpha-interferon on malignant tumor]. 396 61

Four new cases of acute myelofibrosis are reported, and 63 cases reported in the literature are reviewed. The typical features of this disease include a rapidly progressive clinical course; nonspecific symptoms such as weight loss, anorexia, fatigue and weakness; the absence of organomegaly; pancytopenia; circulating blast cells; and mild abnormalities in the red blood cell morphology. The bone marrow aspirates are usually "dry." The bone marrow biopsies are essential for the diagnosis and show four consistent features: hypercellularity, reticulin fibrosis, proliferation of blast cells and bizarre, atypical megakaryocytes. In 16 cases, the blast cells in peripheral blood and bone marrow, which are unclassifiable by conventional morphology, could be identified as megakaryoblasts by ultrastructural and immunocytochemical techniques. It is concluded that acute myelofibrosis is a definite clinicopathologic entity, which may be related to acute megakaryoblastic leukemia.
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PMID:Acute myelofibrosis. A report of four cases and review of the literature. 637 42

A case of hyperthyroidism associated with pancytopenia has been reported. A 51-year-old woman was hospitalized for the investigation of struma, peripheral edema and fatigue. Hormonal studies revealed hyperfunction of the thyroid gland. Hematological examinations showed normocytic normochromic anemia, leukopenia and thrombocytopenia with hyperplastic bone marrow and increased serum iron levels. Elevations of the anti-thyroidal antibody and anti-microsomal antibody, and a decrease in CH50 titer were observed. A Coombs' test and anti-leukocytic antibody and anti-thrombocytic antibody tests were negative. The numbers of erythrocyte and thrombocyte were normalized after the administration of methimazole for three months as were the findings of the bone marrow and the serum iron level. However, leukopenia was maintained due to the effect of methimazole. It should be suggested that the etiology of pancytopenia might be due to hyperthyroidism. Although the mechanism of pancytopenia in a patient with hyperthyroidism is unclear, it might be related to the reduced life-span of whole blood components and/or partially to the autoimmune mechanism.
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PMID:[Case of hyperthyroidism with pancytopenia]. 666 44

We report a 20 year-old woman with hemophagocytic syndrome. In February 1993, she developed high fever, arthralgia, salmon-like pink eruption, leukocytosis and splenomegaly. She was diagnosed as adult Still's disease and successfully treated with intravenous immunoglobulin and oral prednisolone. In September 1993, she was re-admitted to our hospital complaining of general fatigue and low grade fever and treated with oral prednisolone at a daily dose of 15 mg. On October 2, 1993, she suddenly developed high fever and salmon-like pink eruption on her leg followed by the marked increase of serum transaminase and LDH levels (GOT 3,270 IU/l, GPT 1,880 IU/l, LDH 5,480 IU/l) on October 7. Since hepatic failure progressed, we started methylprednisolone pulse therapy and plasmapheresis. However, because of the progression of pancytopenia caused by hemophagocytosis, the treatment with VP-16 was initiated. However, she died of DIC on November 2, 1993. Autopsy revealed submassive necrosis of the hepatocytes with moderate infiltration of histiocytes. She was retrospectively diagnosed as hemophagocytic syndrome whose manifestations are very similar to those in adult Still's disease and acute viral hepatitis.
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PMID:[A case of hemophagocytic syndrome manifesting adult Still's disease and acute hepatitis]. 755 62

We describe a case of a 15 year old boy who developed acute megakaryoblastic leukemia (AMKL) while receiving treatment with human growth hormone (hGH) for idiopathic growth hormone deficiency (GHD). He was diagnosed as having idiopathic GHD and given hGH from December 1991. The examination of his peripheral blood showed mild pancytopenia 2 months before the start of the hGH therapy. Since January 1992, paleness of the skin, general fatigue and fervescence progressed gradually. In February 1992, because of the occurrence of acute leukemia, administration of hGH was discontinued. Judging from the results of surface marker analysis of the blast cells, the patient was diagnosed as having AMKL. He was treated with chemotherapy for acute non-lymphoblastic leukemia from March 1992. A complete remission was obtained after 4 weeks of treatment. The chemotherapy was completed in July 1993. He remains in complete remission 26 months after diagnosis. This case suggests the importance of hematological examination and, when there is any abnormality which is not caused by GHD, such as pancytopenia, more detailed medical examinations (for example bone marrow examination) are necessary.
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PMID:Occurrence of acute megakaryoblastic leukemia in a patient with idiopathic growth hormone deficiency. 779 61

Until recently, there was no specific therapy available for patients with Gaucher's disease. Since April 1991 a highly purified human placental preparation of glucocerebrosidase (Ceredase, Genzyme) has been available for clinical studies in Germany. Sequential deglycosylation of the native enzyme yields a mannose-terminated preparation that may preferentially bind to the plasma membrane of macrophages. The present report analyzes the first German (and European) long-term results with glucocerebrosidase therapy in five patients with type I Gaucher's disease (four women and one man, aged 29-40 years). All patients suffered from excessive enlargement of the liver and spleen with subsequent pancytopenia and from skeletal complications. Multiple pathological fractures had already occurred in three of the five patients, requiring several surgical procedures. Fatigue and asthenia were present in all patients. The initial dose of glucocerebrosidase was chosen according to the severity of complications in the individual patient (20-50 U/kg given i.v. every 2nd week) and was performed in the five patients for 12-18 months. After a few weeks all patients reported that fatigue and asthenia were markedly reduced. After 12 months, blood counts of erythrocytes, leukocytes and platelets had completely normalized in all but one of the patients. After 4-6 months a significant reduction in the sizes of liver and spleen could be observed in all patients. No further fractures occurred during treatment. Significant side-effects of glucocerebrosidase treatment did not occur. The new glucocerebrosidase preparation offers the first effective drug therapy for patients with Gaucher's disease. Although the treatment proved effective and harmless, it is, at least initially, very expensive.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Glucocerebrosidase for treatment of Gaucher's disease: first German long-term results. 781 9

A 54 year-old woman who had a 6 month history of polyarthralgias, oral ulcers, weight loss and fatigue was admitted to the Urawa Municipal Hospital. She developed high fever, dyspnea and thrombocytopenia. Chest radiograph revealed massive right pleural effusion. At this time, laboratory investigations gave the following results: hemoglobin 12.7 g/dl, WBC 7700/microliters and platelet count 9.2 x 10(4)/microliters. Antibody to DNA was negative. Antinuclear antibody was positive at a titer of 320x in a centromere pattern; Anti-RNP and anti-Sm antibodies were negative. CH50 was 18.6 u/ml. C3 was 42.9 mg/dl. C4 was 11.5 mg/dl. Circulating immune complex (Clq) was 30.5 micrograms/ml. Circulating lupus anti-coagulant and anticardiolipine antibodies were positive. Thoracocentesis was performed; the material was a straw-colored exudate with over two thousands white cell per ul and showed marked reduction of complement titiers and elevated immune complex levels. She was then diagnosis as having SLE. Two weeks after admission, progressive leukopenia and anemia succeedingly occurred and resulted in severe pancytopenia. Bone marrow biopsy demonstrated marked marrow fibrosis and increased reticulin content with no evidence of malignancy. Steroid pulse therapy for 3 days started, and subsequently she was treated with 60 mg/day of prednisolone. Three weeks after starting on steroids, the massive pleural effusion was completely disappeared and complement titiers were normalized. Circulating immune complex has not been detected any more. After 8 weeks, the peripheral blood count was normalized. The dose of prednisolone was reduced progressively. On this occasion, the biopsy showed normocullular marrow with a marked reduction in the amount of reticulin.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of systemic lupus erythematosus presenting with myelofibrosis as a cause of pancytopenia]. 797 29

A 21-year-old man was admitted with fever, jaundice, abdominal pain and general fatigue. Other clinical manifestations revealed liver dysfunction, hepatosplenomegaly, pancytopenia and disseminated intravascular coagulation. Anti-EB virus (EA-DR-IgG) was initially elevated on admission and was decreased after that, furthermore anti EBNA was elevated in the late period of his clinical course, which indicated primary infection or secondary alteration of EBV immunity. Bone marrow examination revealed hemophagocytosis by mature histiocytes. Therefore, he was diagnosed as Virus-associated hemophagocytic syndrome (VAHS). An arterial blood gas analysis on admission showed hypoxemia and findings of interstitial pneumonia (IP) were distinctly observed on chest CT scan. Steroid therapy was then initiated and the patient responded very well. The clinical findings and laboratory data including IP, were improved. The 20 adult cases of VAHS in Japan were clinically studied and a review of the complication of VAHS with IP was also made.
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PMID:[Virus-associated hemophagocytic syndrome with interstitial pneumonia in adults and a review of literature in Japan]. 806 21


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