1/73. 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) |
2/73. 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 = 0.11291753152411keywords = deficiency, oxygen (Clic here for more details about this article) |
3/73. 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 = 0.11111111111111keywords = deficiency (Clic here for more details about this article) |
4/73. 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) |
5/73. 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 = 0.11111111111111keywords = deficiency (Clic here for more details about this article) |
6/73. 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 = 0.44444444444444keywords = deficiency (Clic here for more details about this article) |
7/73. 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 = 0.66666666666667keywords = deficiency (Clic here for more details about this article) |
8/73. Enhanced haemolysis with beta-thalassaemia trait due to the unstable beta chain variant, Hb Gunma, accompanied by hereditary elliptocytosis due to protein 4.1 deficiency in a Japanese family.We identified a Japanese family with a beta-thalassaemia trait and hereditary elliptocytosis (HE). We studied five members of this family. One was normal, one had only the beta-thalassaemia trait, one had heterozygous HE, and two had compound heterozygous beta-thalassaemia trait and HE. The last two had already undergone splenectomy. The molecular profile of beta-thalassaemia was consistent with that of Hb Gunma: codon 127/128CAGGCT(Gln-Ala)--> CCT(Pro). Analysis of erythrocyte membrane proteins revealed a partial deficiency of protein 4.1 in all those with HE, whereas the spectrin content was within the normal range. Each heterozygous family member with either the beta-thalassaemia trait or HE was asymptomatic, whereas the two with both beta-thalassaemia and HE had marked red blood cell deformities and haemolysis. The abnormalities of the red blood cells in patients with the beta-thalassaemia trait might be enhanced by association with HE owing to a protein 4.1 deficiency.- - - - - - - - - - ranking = 0.66666666666667keywords = deficiency (Clic here for more details about this article) |
9/73. hemolysis as a potential complication of acetaminophen overdose in a patient with glucose-6-phosphate dehydrogenase deficiency.A 21-year-old Chinese man who took an overdose of acetaminophen was hospitalized. His medical history was significant for glucose-6-phosphate dehydrogenase (G6PD) deficiency. On admission, physical examination was unremarkable and laboratory results were within normal limits. During his hospitalization, the patient experienced a decrease in hemoglobin concentration of almost 4 g/dl and an increase in unconjugated bilirubin consistent with the development of hemolysis. acetaminophen was the most likely cause of the hemolysis. Clinicians must be aware of this potential complication after acetaminophen overdose in G6PD-deficient patients.- - - - - - - - - - ranking = 0.55555555555556keywords = deficiency (Clic here for more details about this article) |
10/73. Membrane-localized pyruvate kinase of red blood cells in hemolytic anemia associated with pyruvate kinase deficiency.pyruvate kinase activity of red blood cell membranes, which is normally masked, has been determined after mechanical disruption of the membranes in normal individuals and in three homozygous patients with pyruvate kinase deficiency. Although patients 1 and 2, who were siblings, had relatively high enzyme activities in their hemolysates, they had the severest form of the disorder. The activities of their membrane fragments were decreased to seven per cent of fragments of normal membranes. Patient 3 had a mild form of hemolytic anemia despite a low enzyme activity of his hemolysates. The membrane fragments of this patient contained 28 per cent of the pyruvate kinase activity of normal fragments. The data suggest a relationship between the amount of membrane-localized pyruvate kinase and the severity of the clinical disorder. The reduced production of ATP by the enzyme portion localized within the membrane may cause an impairment of membrane functions in pyruvate kinase deficiency.- - - - - - - - - - ranking = 0.66666666666667keywords = deficiency (Clic here for more details about this article) |
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