1/83. Complement sensitivity of erythrocytes in a patient with inherited complete deficiency of CD59 or with the Inab phenotype.We investigated the complement sensitivity of erythrocytes from three patients, one with inherited complete deficiency of CD59, one with the Inab phenotype, and one with paroxysmal nocturnal haemoglobinuria (PNH). The complement lysis sensitivity units on the erythrocytes were 11.7, 4.6, and 47.6 for inherited CD59 deficiency, Inab phenotype, and PNH, respectively. Two-colour flow cytometric analysis showed that the erythrocytes from the three patients consisted of a single population negative for CD59, negative for decay accelerating factor (DAF), and negative for both proteins, respectively. In addition, only the Inab phenotype patient had no haemolysis in vivo. These facts suggest that CD59 deficiency plays a more important role than DAF deficiency in complement-mediated haemolysis in vitro and in vivo, and that deficiency of both proteins, but not CD59 or DAF alone, causes complement sensitivity corresponding to that of PNH III erythrocytes in vitro.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/83. Anaesthetic management of a patient with erythropoietic protoporphyria for ventricular septal defect closure.Erythropoietic protoporphyria (EPP) is due to a deficiency in ferrochelatase required for haem synthesis. We describe the anaesthetic management of a seven-year-old with EPP undergoing closure of a haemodynamically significant ventricular septal defect. Photosensitivity in EPP patients is triggered at wavelengths near 400 nm and light-excited porphyrins generate free radicals and singlet oxygen that lead to erythrocyte deformity and haemolysis. Stimuli that could trigger a porphyric crisis during anaesthesia and surgery were reduced by avoiding exposure to the sensitive 400 nm spectrum and using light sources covered with yellow acrylate filters in the operating room. Anaesthetic agents not previously associated with porphyric crisis were chosen. Whole blood priming of the extracorporeal circuit was performed to ensure adequate haemoglobin concentrations during the perioperative period.- - - - - - - - - - ranking = 0.11111111111111keywords = deficiency (Clic here for more details about this article) |
3/83. Intravascular hemolysis in aluminium phosphide poisoning.Intravascular hemolysis is most often secondary to exposure to a variety of drugs or infections, and usually occurs in patients who are deficient in glucose-6-phosphate dehydrogenase (G-6-PD) enzyme. Aluminium phosphide, a fumigant widely used in india, has been reported to produce intravascular hemolysis in only one patient who also had concomitant G-6-PD deficiency. This report describes the occurrence of intravascular hemolysis with aluminium phosphide poisoning in a patient with normal G-6-PD levels. This is of significance as jaundice in patients with this poisoning is often attributed to hepatic damage alone.- - - - - - - - - - ranking = 0.46165229939392keywords = dehydrogenase, deficiency (Clic here for more details about this article) |
4/83. Severe delayed hemolytic transfusion reaction secondary to anti-At(a).BACKGROUND: Anti-At(a) is a rare red cell (RBC) alloantibody found in the black population. It has been described as causing one case of mild hemolytic disease of the newborn, but its ability to cause hemolytic transfusion reactions is uncertain. CASE REPORT: The patient was a 60-year-old black female with a history of three uneventful pregnancies but no transfusions. On admission, her direct and indirect antiglobulin tests were negative, total bilirubin was 0.5 mg per dL, and lactate dehydrogenase was 224 IU per L. She received nine units of compatible RBCs in the perioperative period of a hemicolectomy. Her hemoglobin rose appropriately and stabilized at 12.6 g per dL by the 6th postoperative day. By Day 10 after surgery her hemoglobin had dropped to 6.8 g per dL, and her total bilirubin and lactate dehydrogenase had risen to 1.4 mg per dL and 783 IU per L, respectively. The direct and indirect antiglobulin tests were now newly positive with strengths of 3 . A warm hemolytic autoantibody was suspected. She was transfused two units of incompatible RBCs for a rapidly falling hemoglobin and symptomatic anemia. On Day 11, the total bilirubin rose to 3.5 mg per dL, and the lactate dehydrogenase was 1154 IU per L with a hemoglobin of 7.6 g per dL. Corticosteroids were begun. Studies of serum and an acid eluate revealed anti-At(a), but no other RBC antibodies. The patient stabilized, and further transfusion was avoided. CONCLUSION: Although anti-At(a) was previously described as being of uncertain clinical significance, this patient demonstrated the ability of the antibody to cause a severe delayed hemolytic transfusion reaction.- - - - - - - - - - ranking = 1.0516235648484keywords = dehydrogenase (Clic here for more details about this article) |
5/83. Fatal hemolysis after high-dose etoposide: is benzyl alcohol to blame?A 53-year-old African-American man with relapsed non-Hodgkin's lymphoma developed seizures and respiratory arrest 2 hours after an infusion of high-dose etoposide in preparation for an autologous bone marrow transplant. Laboratory tests revealed both rapid hemolysis and severe metabolic acidosis. The patient died the following day. Based on toxicities observed, we suspect that our patient possessed an ethnic polymorphism of the enzyme alcohol dehydrogenase. Further research is required to determine the relationship between the benzyl alcohol metabolic rate and toxicity and genetic polymorphisms of alcohol dehydrogenase in African-Americans.- - - - - - - - - - ranking = 0.70108237656562keywords = dehydrogenase (Clic here for more details about this article) |
6/83. Hereditary human complement c3 deficiency owing to reduced levels of C3 mRNA.An 8-year-old son (L.A.S.) of consanguineous parents, presented recurrent bacterial infections, vasculitis and extremely low levels of serum C3 (0.15 microg/ml). The classical and alternative pathway haemolytic activities and the generation of opsonins and chemotactic factors derived from the activation of the complement system were markedly affected in the proband's serum. An in vitro addition of purified C3 restored the classical pathway-dependent haemolytic activity of his serum. Autoradiographs of the proband's lipopolysaccharide (LPS)-stimulated and 35S-labelled fibroblast supernatants after that the SDS-PAGE revealed no C3 alpha or beta chains. The amount of C3 mRNA synthesized by the proband's fibroblasts, as evaluated by reverse transcription-polymerase chain reaction (RT-PCR) assays, was greatly reduced.- - - - - - - - - - ranking = 0.44444444444444keywords = deficiency (Clic here for more details about this article) |
7/83. Acute phase haemolysis in chronic cold agglutinin disease.We previously described a paradoxical form of chronic cold agglutinin disease (CAD) in which haemolysis occurred during episodes of fever but only marginally during exposure to colds. In order to investigate the molecular basis for this response we performed a 12-month prospective study of a patient with CAD and paradoxical haemolysis. blood samples were collected monthly during health, and daily following hospitalization owing to hip fracture. During health we observed decreased levels of C3, undetectable C4, a non-functional classical pathway and a normal alternative pathway. Increased concentrations of C1-INH/C1rs complexes indicated continuous formation of C1-antibody-antigen complexes. There was a low-grade temperature-dependent fluctuating haemolysis as evidenced from measurements of lactate dehydrogenase. Following the hip fracture, the haemolysis increased. Levels of interleukin (IL)-1beta, IL-6, interferon (IFN)-gamma and tumour necrosis factor (TNF)-alpha increased as did C1-INH, C3, C4, CRP, and lactate dehydrogenase. The results support our hypothesis stating that paradoxical haemolysis in CAD is controlled by the availability of early classical pathway complement molecules and that haemolysis following acute phase responses occurs as a consequence of increased complement synthesis.- - - - - - - - - - ranking = 0.70108237656562keywords = dehydrogenase (Clic here for more details about this article) |
8/83. Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes.Two premature female infants had severe hyperbilirubinemia caused by hemolysis. Both neonates were heterozygotes for the glucose-6-phosphate dehydrogenase Mediterranean mutation as determined by dna analysis. glucose-6-phosphate dehydrogenase-deficient heterozygotes may be susceptible to the complications of this enzyme deficiency.- - - - - - - - - - ranking = 2.214358240808keywords = dehydrogenase, deficiency (Clic here for more details about this article) |
9/83. Henna causes life threatening haemolysis in glucose-6-phosphate dehydrogenase deficiency.Haemolytic crisis in glucose-6-phosphate dehydrogenase deficient individuals following topical application of henna occurred in four children: a female neonate (haemoglobin 50 g/l, serum bilirubin 700 micromol/l), who recovered after exchange transfusion; a male infant (haemoglobin 28 g/l) who died despite transfusion; and two preschool children (haemoglobin 40 and 41 g/l respectively).- - - - - - - - - - ranking = 12.587140955544keywords = dehydrogenase deficiency, dehydrogenase, deficiency (Clic here for more details about this article) |
10/83. Low glucose-6-phosphate dehydrogenase enzyme activity level at the time of hemolysis in a male neonate with the African type of deficiency.glucose-6-phosphate dehydrogenase (G6PD) levels are not usually drawn in the evaluation of black neonates with hyperbilirubinemia because of the oft-stated opinion that the levels may be normal at the time of hemolysis and thus will be misleading. In fact, this opinion is not applicable to newborns as many studies have shown that deficiency in the conjugating ability of the liver, not hemolysis, is the main cause of neonatal jaundice associated with G6PD deficiency. We present a case report of a neonate with brisk hemolysis and hyperbilirubinemia in whom the G6PD level was abnormally low at the time of the hemolytic episode. dna analysis showed him to have the A-(202A,376G) variant and, as well, the UGT1A1 promoter repeat polymorphism associated with Gilbert's disease. This case, as well as a review of the literature, indicates that enzyme levels are not normal in patients with G6PD A- who are undergoing hemolysis.- - - - - - - - - - ranking = 2.4193726080807keywords = dehydrogenase, deficiency (Clic here for more details about this article) |
| | Next -> |