1/12. Evans syndrome in a patient with chromosome 22q11.2 deletion syndrome: a case report.One patient with a chromosome 22q11.2 deletion and Evans syndrome is reported in this paper. Microdeletions of 22q11.2 are the main etiology for digeorge syndrome, a disorder characterized by heart defects, immune deficiencies due to aplasia or hypoplasia of the thymus, and hypocalcemia. Evans syndrome refers to a hematological autoimmune disorder with autoimmune hemolytic anemia accompanied by immune thrombocytopenia. A wide range of autoimmune disorders have been described in digeorge syndrome and velocardiofacial syndrome, including one prior report of autoimmune hemolytic anemia and immune thrombocytopenia. The patient reported herein strengthens the association between the 22q11.2 deletion spectrum and Evans syndrome.- - - - - - - - - - ranking = 1keywords = hemolytic (Clic here for more details about this article) |
2/12. In end-stage renal failure, does infection lead to elevated plasma aluminium and neurotoxicity? Implications for monitoring.The well-described long-term effects of sustained exposure to aluminium in patients with end-stage renal failure (ESRF) are a result of uptake and storage of aluminium, leading to cellular toxicity. A case is presented suggesting that this aluminium may be mobilizable, and indicating the consequence of such release. A patient on haemodialysis (HD) presented acutely with infection, a raised CRP, decreased conscious level, impaired cognition and agitation. Subsequent neurological recovery over six to seven days appeared to follow the return of markedly elevated plasma aluminium concentrations to basal (i.e. from 25.2 micromol/L to 2.5 micromol/L; reference range < 0.5 micromol/L), coupled with a resolution of the infection. The patient was on long-term aludrox therapy 3 g/day, and showed relative resistance to the exogenous hormone erythropoietin, resulting in a refractory anaemia and suggesting aluminium toxicity. A series of HD patients (n = 5) presenting with bacteraemia, not on aludrox, showed no appreciable rise in the plasma aluminium mean of 1.3 micromol/L (SD 0.9; range 0.6-2.0 micromol/L). We suggest that infection can result in release of tissue aluminium, leading to acutely elevated plasma aluminium concentrations and signs of neurotoxicity. The amount of tissue storage and resultant aluminium release seemed to be related to the use of aluminium hydroxide as a phosphate binder.- - - - - - - - - - ranking = 0.1008454182517keywords = anaemia (Clic here for more details about this article) |
3/12. hemolysis and infection: categories and mechanisms of their interrelationship.Different cause-and-effect relationships between hemolytic and infectious processes are categorized in a clinically useful manner as follows: infections causing hemolysis by invasion of red blood cells (RBCs), by hemolysins, or by immune mechanisms; oxidative damage to RBCs during infections; hemolysis secondary to infection-induced pathologic processes; hemolytic effects of antimicrobial therapy; and predisposition of an individual to infection caused by an underlying hemolytic disorder or therapy for that disorder. The mechanisms of these interrelationships are discussed in detail.- - - - - - - - - - ranking = 1.5keywords = hemolytic (Clic here for more details about this article) |
4/12. Cold agglutinin hemolytic anemia in a patient with adult-onset Still's disease.We report on a patient with adult Still's disease who developed, at the onset of her illness, an autoimmune hemolytic anemia (AHA) due to cold agglutinin (CA). hemolysis spontaneously subsided and CA disappeared before starting therapy with aspirin and prednisone. The occurrence of AHA in patients affected with collagen diseases is currently explained by a loss of tolerance, leading to the emergence of multiple autoreactive clones. In our case the self-limiting course of AHA leads us to propose another interpretation, i.e. that the cold reactive autoantibody might have been related to a transient infection able to play a pathogenetic role in the systemic disease, as suggested by several authors.- - - - - - - - - - ranking = 2.5keywords = hemolytic (Clic here for more details about this article) |
5/12. Estimating mortality risk in preoperative patients using immunologic, nutritional, and acute-phase response variables.We measured the delayed type hypersensitivity (DTH) skin test response, along with additional variables of host immunocompetence in 245 preoperative patients to determine which variables are associated with septic-related deaths following operation. Of the 14 deaths (5.7%), 12 were related to sepsis and in 2 sepsis was contributory. The DTH response (p less than 0.00001), age (p less than 0.0002), serum albumin (p less than 0.003), hemoglobin (p less than 0.02), and total hemolytic complement (p less than 0.03), were significantly different between those who died and those who lived. By logistic regression analysis, only the DTH skin test response (log likelihood = 41.7, improvement X2 = 6.24, p less than 0.012) and the serum albumin (log likelihood = 44.8, improvement X2 = 17.7, p less than 0.001) were significantly and independently associated with the deaths. The resultant probability of mortality calculation equation was tested in a separate validation group of 519 patients (mortality = 5%) and yielded a good predictive capability as assessed by (1) X2 = 0.08 between observed and expected deaths, NS; (2) Goodman-Kruskall G statistic = 0.673) Receiver-Operating-Characteristic (ROC) curve analysis with an area under the roc curve, Az = 0.79 /- 0.05. We conclude that a reduced immune response (DTH skin test anergy) plus a nutritional deficit and/or acute-phase response change are both associated with increased septic-related deaths in elective surgical patients.- - - - - - - - - - ranking = 0.5keywords = hemolytic (Clic here for more details about this article) |
6/12. The anemia of chronic disease: spectrum of associated diseases in a series of unselected hospitalized patients.PURPOSE: Previous studies of the anemia of chronic disease (ACD) have generally begun with patients afflicted with one of the classical underlying diseases such as rheumatoid arthritis. The clinical spectrum of ACD has not been thoroughly examined. We hypothesized that many patients have an anemia with the characteristics of ACD but do not have one of the infectious, inflammatory, or neoplastic disorders usually associated with ACD. We therefore evaluated a series of consecutive, unselected, anemic patients admitted to a county hospital. patients AND methods: All patients admitted to the medicine ward service of a county hospital were screened for anemia (hematocrit less than 40% in men, less than 37% in women). Additional laboratory data were collected on all anemic patients, except those with active gastrointestinal bleeding, hemolytic disease, or leukemia or multiple myeloma. The patients were divided into three groups on the basis of serum values indicating iron distribution: iron deficiency (serum ferritin less than 10 ng/mL), ACD (serum iron less than 60 micrograms/dL and serum ferritin more than 50 ng/mL), and all others (non-ACD). The hospital records of the patients in the latter two groups were reviewed and their diagnoses recorded. RESULTS: Seven patients with iron deficiency were not considered further. Ninety patients with ACD were compared with 75 patients with non-ACD. The anemia in ACD patients was more severe than most authors describe. The mean hematocrit was 31%, and 20% of patients had hematocrits below 25%. The anemia was usually normocytic (mean red cell volume [MCV] 86 fL), but 21% had an MCV less than 80 fL. The level of saturation of serum iron-binding capacity was quite low in ACD (mean 15%) and was normal in non-ACD (mean 31%). renal insufficiency was common in both groups; serum creatinine values were more than 2 mg/dL in 31% of patients with ACD and 20% of non-ACD patients. Sixty percent of patients with ACD had a principal diagnosis that fell into the infectious, inflammatory, and neoplastic categories commonly associated with ACD. renal insufficiency was the major diagnosis in 16%, and the principal diagnosis in 24% was a disease not commonly considered to be associated with ACD. In non-ACD patients, the principal diagnosis was an infectious, inflammatory, or neoplastic disease in 55%, renal insufficiency in 9%, and another disease in 36%. CONCLUSIONS: When ACD was defined by the abnormalities of iron distribution, which are its most consistent and widely accepted characteristics, the spectrum of associated diseases was much broader than the traditional categories of infectious, inflammatory, and neoplastic disorders, and the overlap with non-ACD was large. Until the etiologic and pathogenetic mechanisms of ACD are better understood, a flexible and inclusive view of this disorder seems appropriate.- - - - - - - - - - ranking = 0.5keywords = hemolytic (Clic here for more details about this article) |
7/12. Congenital folate malabsorption.A Turkish girl presented with a history of fever, diarrhoea, convulsions, recurrent infections and failure to thrive from the age of 5 months. Megaloblastic anaemia was present and profound folate deficiency was evidenced in plasma and in CSF. Treatment with oral folic acid cured the anaemia, diarrhoea and infections but failed to prevent convulsions and the appearance of mental retardation and cerebral calcifications. Loading tests with folic acid and its derivatives led to the conclusion that the folate deficiency was caused by a defect in folate transport both across the gut and the blood-brain barrier. Low plasma concentrations of methionine prompted a therapeutic trial with methionine associated with vitamin B12 and folic acid that spectacularly improved the convulsions.- - - - - - - - - - ranking = 0.20169083650339keywords = anaemia (Clic here for more details about this article) |
8/12. Bone-marrow transplantation. A preliminary study in aplasia and leukaemia.Six patients with aplastic anaemia, and nine patients with acute leukaemia in relapse, underwent bone-marrow transplantation between November, 1975, and November, 1979. All patients with aplastic anaemia developed a functioning marrow graft and four were alive 42, 24, 22, and 17 months respectively after the procedure. Two died within the first four months after the procedure from graft-versus-host disease (GVHD) and associated infection, while two of the survivors are still troubled by chronic GVHD. Of the nine patients with acute leukaemia, seven died within the first few months after the procedure. However, two patients remained alive, with no evidence of recurrent leukaemia, 18 and nine months respectively after the graft. These results confirm that bone-marrow transplantation is a useful therapeutic procedure in severe aplastic anaemia, but is of limited value in the treatment of acute leukaemia in relapse.- - - - - - - - - - ranking = 0.30253625475509keywords = anaemia (Clic here for more details about this article) |
9/12. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.We have studied a patient from a family in which 17 male infants died in the first years of life. The clinical characteristics of this disorder were established from information from eight patients. The features included diarrhea, diabetes mellitus, hemolytic anemia, eczematoid rashes, and exaggerated responses to viral illnesses, combined with pathologic evidence of autodestruction of endocrine glands, insulitis, and thyroiditis with thyroid autoantibodies in one patient. When tested, B-lymphocyte cell function, T cell numbers, polymorphonuclear leukocyte chemotaxis, and complement concentrations were normal. Lymphocyte stimulation with phytohemagglutinin was low in one to two affected males and delayed skin test anergy was noted in another, raising the question of a T-lymphocyte cell abnormality. The basic genetic mechanism is unknown, but involvement of an immune response locus on the x chromosome, dysfunction of which is responsible for overactivity of the autoimmune system, is postulated.- - - - - - - - - - ranking = 0.5keywords = hemolytic (Clic here for more details about this article) |
10/12. Glucosephosphate isomerase deficiency, a new variant in a Dutch family. Case report.The clinical course and the biochemical findings are reported from a patient suffering from glucosephosphate isomerase (G.P.I EC 5.3.1.9) deficiency type Nijmegen. This disorder decleares itself as a non-spherocytic hemolytic anemia, presenting in the neonatal period. In the patient hemolysis was of the same degree during the years. However, trivial infections could often trigger an increase in hemolysis requiring treatment by blood transfusions. Enzyme studies revealed that the GPI deficiency in this patient was caused by a double heterozygous state for two different GPI deficient alleles. The presence of one of these deficient alleles in the proband's parents and grandparents, was not accompanied by any sign of hemolysis, as for instance a shortened red-cell survival.- - - - - - - - - - ranking = 0.5keywords = hemolytic (Clic here for more details about this article) |
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