Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A procarbazine hydrochloride-induced mutation at the Ldh-1 structural locus encoding the A subunit of lactate dehydrogenase (LDH) was used to study the molecular and metabolic basis of severe hemolytic anemia due to LDH-A deficiency in the mouse. The mutant allele designated Ldh-1a-m1Neu codes for an enzyme that as homotetramer differs from the wild-type enzyme by a marked instability, acidic shift of the pH profile, increased Km for pyruvate and altered inhibition by high concentrations of this substrate. Except for the latter, all these altered properties of the mutant protein contribute to the diminished LDH activity in heterozygous and homozygous mutant individuals. Impaired energy metabolism of erythrocytes indicated by a relatively low ATP concentration is suggested to result in cell death at the end of the reticulocyte stage leading to the expression of hemolytic anemia with extreme reticulocytosis and hyperbilirubinemia. Despite the severe anemia, affected homozygous mutants exhibit approximately normal body weight and do not show noticeable impairment of viability or fertility. To date no such condition is observed in man. This discrepancy is likely due to the fact that in human erythrocytes both LDH-A and LDH-B subunits are expressed such that homozygotes for a LDH-A or LDH-B deficiency would not result in a comparably extreme LDH activity deficiency.
 ...
PMID:A mutation affecting the lactate dehydrogenase locus Ldh-1 in the mouse. II. Mechanism of the LDH-A deficiency associated with hemolytic anemia. 822 16

We report the case of an 18-year old man with hemolytic-uremic syndrome (HUS) having a classic clinical presentation and diagnostic renal pathology without evidence of microangiopathic hemolytic anemia (MAHA) by peripheral blood smear. Indirect evidence of hemolysis was suggested by mild anemia, elevation of serum lactate dehydrogenase, and examination of the patient's bone marrow. We postulate that in this case the inability to detect schistocytes in the peripheral smear reflected a low degree of hemolysis. Review of the literature revealed that evidence of fragmented erythrocytes by peripheral smear is not always present in HUS, yet this observation has received little attention. Thus, the diagnosis of HUS need not include overt evidence of MAHA as is traditionally taught.
 ...
PMID:Hemolytic-uremic syndrome without evidence of microangiopathic hemolytic anemia on peripheral blood smear. 860 70

An 8-month-old male infant with severe anemia and thrombocytopenia was brought to our hospital due to fever and pallor. The physical examination on admission showed pale conjunctivae, skin rash, lymphadenopathy and hepatosplenomegaly. Subsequent laboratory studies showed pancytopenia, impaired liver function, elevated lactate dehydrogenase level but without evidence of disseminated intravascular coagulation. Bone marrow aspiration demonstrated increased macrophages and prominent hemophagocytosis. The serological studies revealed a recent infection of human herpesvirus-6 which was confirmed by blood mononuclear cell culture and polymerase chain reaction. This infant was also found to have beta-thalassemia which was confirmed by hemoglobin electrophoresis performed before first transfusion. After treatment with intravenous immunoglobulin and other supportive therapies, the bone marrow abnormalities has completely recovered after 5 days, and the hemogram improved. This report demonstrates the human herpesvirus-6 as the etiology of hemophagocytic syndrome.
 ...
PMID:Human herpesvirus-6 associated hemophagocytic syndrome in beta-thalassemia: report of one case. 860 65

We present a 72-year-old man who had episodes of severe, acute renal failure during severe attacks of diarrhea caused by Vibrio cholerae. Patterns of acute tubular necrosis and tubulointerstitial nephritis developed following hypotension and decrease in renal blood flow, causing secondary renal ischemia. There was severe dehydration with profound hypovolemia and infection. The clinical picture included fever, weakness, arthralgia, pedal edema, mild bilateral pleural effusions, anemia, leukocytosis, azotemia with a maximum of 330 mg/dl of urea, creatine to a maximum of 9.8 mg/dl, hypoproteinemia, severe metabolic acidosis, marked increase in lactate dehydrogenase (LDH) and creatine phosphokinase (CPK), microscopic hematuria, sterile leukocyturia, normoglycemic glucosuria and phosphaturia with diminished tubular reabsorption of phosphorus. A short oliguric phase was followed by a polyuric phase lasting about 10 days, and glomerular and tubular function became normal after about 3 weeks. Treatment was by intensive infusions of fluids, electrolytes, sodium bicarbonate, salt-free albumin and antibiotics. To the best of our knowledge, this renal complication of cholera has not yet been described in Israel.
 ...
PMID:[Acute renal failure as a complication of cholera]. 868 55

We report the cases of six patients with AIDS in whom reactive hemophagocytic syndrome (RHPS) secondary to disseminated histoplasmosis was diagnosed. RHPS was diagnosed by established criteria, including fever (duration of > or = 7 days, with peak temperatures of > 38.5 degrees C), unexplained thrombocytopenia with anemia and/or neutropenia, and bone marrow biopsy findings of hemophagocytic histiocytosis. Disseminated Histoplasma capsulatum infection was diagnosed on the basis of the results of cultures of the bone marrow sample. The serum lactate dehydrogenase (LDH) level was elevated (> 1,000 IU/L) in all patients, and five of six patients had hyperferritinemia (range of ferritin level, 15,848-425,984 ng/mL). Five patients had features resembling severe sepsis with multiorgan dysfunction. Three patients recovered, and the findings of RHPS resolved following therapy with amphotericin B. In patients with AIDS, the combination of fever, cytopenia, elevated serum LDH level (> 1,000 IU/L), and/or hyperferritinemia (ferritin level of > 10,000 ng/mL) is a clue to the diagnosis of RHPS and disseminated histoplasmosis; bone marrow biopsy is valuable in establishing the diagnosis.
 ...
PMID:Reactive hemophagocytic syndrome: a new presentation of disseminated histoplasmosis in patients with AIDS. 874 33

A controlled test of the efficacy of triclabendazole against all stages (early immature, late immature and mature) of Fasciola hepatica has been performed in experimentally infected goats. The influence of triclabendazole treatment on the pathophysiology of the disease, in terms of haematological parameters and serum enzyme levels, and in the dynamics of production of specific antibodies to excretory/secretory products (ESP) of F. hepatica were also examined. Goats were orally infected with 200 viable metacercarie and treated at 4, 8 and 16 weeks postinfection (PI) with triclabendazole at the dose rate of 10 mg kg-1 body weight. The drug can be regarded as highly effective against mature (100%) and late immature (99.2%) flukes and effective against early immature flukes (94.9%). A moderate anaemia was found associated with the presence of late immature and mature flukes in bile ducts. Treatment with triclabendazole, by eliminating most of these flukes, largely reduced haematological alterations. Serum levels of the enzymes aspartate aminotransferase, lactate dehydrogenase and gamma-glutathione transferase reflected hepatic damage during goat fasciolosis. Early treatment (at 4 weeks PI) prevents the development of both parenchyma and bile ducts lesions; treatment at 8 weeks PI only prevents bile ducts lesions and treatment at 16 weeks PI has no appreciable effect on the development of the main hepatic lesions. The antibody response to F. hepatica ESP, as measured by enzyme-linked immunosorbent assay, was also affected by treatment with triclabendazole. In all treated animals a peak in antibody levels was observed between weeks 9 and 13, followed by a drop whose magnitude depended on the efficacy of treatment. In those animals in which triclabendazole was highly effective, antibody levels fell back to negative values similar to those recorded preinoculation at 18-21 weeks PI.
 ...
PMID:Triclabendazole treatment in experimental goat fasciolosis: anthelmintic efficacy and influence in antibody response and pathophysiology of the disease. 906 52

Thirty-two patients with fever of unknown origin, weight loss, anemia, elevated serum levels of alkaline phosphatase and/or lactate dehydrogenase were evaluated. Histopathologic findings of the liver showed T-cell infiltration in the hepatic sinusoids and portal tracts. The cellular morphology varied from mature lymphocyte to malignant lymphoid cells. We divided the cases into four groups on the basis of cellular atypia. Group A and group B showed mature lymphoid cell infiltration, however, only group B had multiple large areas of hepatocellular necrosis. Group C showed atypical lymphoid cell infiltration. In group D, definite malignant lymphoid cell infiltrates were demonstrated. Groups B, C, and D patients had a very poor prognosis. All of them died despite chemotherapy. Group A patients had a better prognosis. Those who had chemotherapy achieved a complete remission. Progression to a higher group occurred in two of six patients with group B lesions and one of seven patients with group C lesions. The EBV-RNA genomes were found increasingly in the higher groups. This study supports the concept that these groups of disease represent a spectrum of peripheral T-cell proliferations.
 ...
PMID:Hepatic peripheral T-cell lymphoma: a spectrum of liver pathology and clinical correlation. 917 91

A nested case-control study was conducted in two trials of prophylaxis for Mycobacterium avium complex (MAC) infection to describe the specific signs, symptoms, and laboratory abnormalities of MAC disease in AIDS. Patients had < or =200/mm3 CD4 cells and a prior AIDS-defining illness. Of 571 patients, 102 (17.9%) developed MAC bacteremia during a mean follow-up of 256 days. Among cases of MAC disease, 90 were compared with 180 matched controls. Patients with MAC disease were more likely than controls to have lower weights (66.3 vs. 71.1 kg, P = .001) and Karnofsky scores (74.3 vs. 84.4, P < .001); a higher proportion had fever (48% vs. 26%, P = .003), abdominal pain (23% vs. 13%, P =.05), decreased hemoglobin levels (10.9 vs. 12.1 g/dL, P < .001), and elevated alkaline phosphatase (203 vs. 138 U/L, P=.04) and lactate dehydrogenase (334 vs. 280 U/L, P = .02) levels. Characteristics of MAC disease that occurred before bacteremia were weight loss (3 months prior), fever (2 months), and anemia and elevated lactate dehydrogenase (1 month). These data suggest that patients have symptomatic MAC disease for several months prior to the occurrence of bacteremia.
 ...
PMID:Early manifestations of disseminated Mycobacterium avium complex disease: a prospective evaluation. 920 58

This paper reviews studies in epidemiology, differential diagnosis, clinical manifestations, and treatment of juvenile rheumatoid arthritis (JRA) that have appeared during the past year. One epidemiologic study suggested a decreased incidence recently; however, changes over time in the ethnic and racial characteristics of the patients studied may also have played a role. Findings from an Australian study suggested that some studies may underestimate the true incidence of JRA if visits of physicians are the only basis for the studies. Finally, a Canadian study of incidence showed no seasonal correlations--except for the Prairie region--raising the possibility that the disease varies by region because of environmental factors or variations in ethnic background. Differential diagnostic issues were covered in several reports. One study suggested that elevations in lactate dehydrogenase levels identified children with malignancies who presented with musculoskeletal symptoms. Another study of children with Lyme disease failed to find any patients with asymmetric joint involvement, in contrast to JRA patients. Two studies from Europe reached opposite conclusions regarding whether the incidence of celiac disease was increased in JRA patients. Clinical studies included a French study showing increased production of interleukin-6 and interleukin-1-Ra during fever spikes in children with systemic JRA. An Italian study explored the potential role of interleukin-6 in the anemia of JRA patients. An American study confirmed decreases in markers of bone formation in JRA patients. Two treatment studies addressed the use of intravenous gamma globulin in JRA. Another report described two JRA patients who developed nodules while receiving methotrexate. Finally, a report added confirmation to the successful use of cyclosporine for macrophage activation syndrome in JRA.
 ...
PMID:Clinical aspects of juvenile rheumatoid arthritis. 930 97

Two patients with lysinuric protein intolerance (LPI) had near-fatal generalized varicella infection with severe interstitial pneumonitis, hepatitis, decreased platelet count, bleeding and hypoalbuminaemia. Active haemolysis resulted in anaemia and massive haemoglobinuria. Serum lactate dehydrogenase activity and ferritin concentration, which in patients with LPI in normal circumstances exceed the upper reference values 3-folds to 10-fold, increased to > 10,000 U/L and > 10,000 micrograms/L, respectively. The patients were treated with fresh frozen plasma, red-cell transfusions and intravenous acyclovir for 14 days, and recovered clinically in a month. Retrospectively, 3 of the 32 other known Finnish patients with LPI had had varicella infection that had been more severe than that in the other children in the family or in subjects in the neighbourhood and had led to hospital admission. Varicella antibodies were measured in 24 patients; 5 had no antibodies and 5 had very low antibody titres. Primary vaccination of three patients with living varicella vaccine increased antibody titres measurably in one patient. We suggest that patients with LPI who have no varicella zoster antibodies should be treated with acyclovir if exposed to varicella and should be (re)vaccinated against chickenpox.
 ...
PMID:Varicella and varicella immunity in patients with lysinuric protein intolerance. 958 61


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>