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G6PD Deficiency (g6pd + deficiency)
Selected AbstractsPrevalence of glucose-6-phosphate dehydrogenase deficiency in Northern GreeceINTERNAL MEDICINE JOURNAL, Issue 3 2008G. Ntaios Abstract Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects more than 400 million persons worldwide. Its distribution varies significantly among different geographic regions and different population groups. Purpose of our study was to estimate its prevalence in Northern Greece. The dataset comprised 5161 newborns and adults who were screened for G6PD deficiency between July 2001 and March 2007. G6PD deficiency was detected by the dye reduction method. In the screened group, 6.3% of subjects were G6PD deficient. Moderate enzyme deficiency was shown in 139 individuals (2.7%). Complete deficiency was identified in 3.7%. The prevalence of G6PD deficiency in Northern Greece is much higher compared with the general Greek population. Moreover, G6PD prevalence in the male sex is much higher , almost double , that in the female sex. [source] Novel point mutation in exon 12 of the glucose-6- Phosphate Dehydrogenase Gene: G6PD FloresJOURNAL OF CLINICAL LABORATORY ANALYSIS, Issue 2 2004Maria-Odete Rodrigues Abstract In Portugal there are a wide variety of G6PD deficiency associated mutations. In an individual from the island of Flores of the Azorean archipelago, we report a new mutation in the G6PD gene that gives rise to a "moderate rate of G6PD deficiency" (12.6% of the normal activity) according to WHO criteria. Direct sequencing revealed a C,A point mutation at position 1387 with the consequent substitution of an Argine by Serine. We designated this new mutation as G6PD FLORES. The mutation is associated with haplotype I ( , , + + , , ), using six intragenic RFLPs. This information may also be seen as contributing to the clarification of the genetic makeup of the Azorean population, founder mutations, and/or gene flow. J. Clin. Lab. Anal. 18:129,131, 2004. © 2004 Wiley-Liss, Inc. [source] Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD geneJOURNAL OF CLINICAL LABORATORY ANALYSIS, Issue 3 2003Panayiotis G. Menounos Abstract In this study, we investigated whether glucose-6-phosphate dehydrogenase (G6PD) promoter mutations are responsible for G6PD deficiency. We analysed the G6PD proximal promoter and the 5, untranslated region (UTR) in 65 G6PD-deficient individuals, in which no mutations have been found in the G6PD gene coding sequences, using a nonradioactive polymerase chain reaction/single-strand conformation polymorphism (PCR/SSCP) analysis. We identified no sequence variations in the G6PD core promoter or in the 5, UTR of these G6PD-deficient individuals, which indicates that G6PD deficiency is not associated with promoter mutations in the G6PD locus. J. Clin. Lab. Anal. 17:90,92, 2003. © 2003 Wiley-Liss, Inc. [source] Glucose-6-phosphate dehydrogenase deficiency is associated with increased initial clinical severity of acute viral hepatitis AJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 11 2001Israel Gotsman Abstract Background and Aim: In glucose-6-phosphate dehydrogenase (G6PD) deficiency, the enzyme is deficient in liver cells as well as in erythrocytes. It has been suggested that this may be associated with a more severe clinical presentation of acute viral hepatitis A. The aim of this study is to determine the severity of liver disease in patients with viral hepatitis and G6PD deficiency. Methods: Eighteen patients with diagnosed G6PD deficiency and acute hepatitis A were compared with 18 matched control patients with hepatitis A in a university hospital for liver disease severity and clinical outcome. Results: Two of 18 patients with G6PD deficiency had neurological deterioration. Patients with G6PD deficiency had a mean peak prothrombin time (PT) that was significantly prolonged as compared with the control group (15.5 ± 3.7 vs 12.9 ± 2.0 s, respectively, P < 0.02), and a significantly higher proportion had an abnormal PT (PT > 13.3 s): 61 versus 11% (P < 0.0001). Hemolysis occurred in 44% of the G6PD deficiency patients. Total and direct bilirubin were significantly higher in all patients with G6PD deficiency, including patients without hemolysis. There was no significant difference in liver enzyme levels between the two groups. Patients with G6PD deficiency had a longer average hospital stay (9.5 ± 4.8 vs 3.4 ± 0.8 days, respectively, P < 0.001). There was no difference in the final clinical outcome between the two groups, and recovery of liver function was seen in all patients. Conclusions: Glucose-6-phosphate dehydrogenase deficiency in patients with hepatitis A causes a more severe initial clinical presentation, but does not alter the final clinical outcome. [source] Hematological predictors of increased severe anemia in Kenyan children coinfected with Plasmodium falciparum and HIV-1,AMERICAN JOURNAL OF HEMATOLOGY, Issue 4 2010Gregory C. Davenport Malaria and HIV-1 are coendemic in many developing countries, with anemia being the most common pediatric hematological manifestation of each disease. Anemia is also one of the primary causes of mortality in children monoinfected with either malaria or HIV-1. Although our previous results showed HIV-1(+) children with acute Plasmodium falciparum malaria [Pf(+)] have more profound anemia, potential causes of severe anemia in coinfected children remain unknown. As such, children with P. falciparum malaria (aged 3,36 months, n = 542) from a holoendemic malaria transmission area of western Kenya were stratified into three groups: HIV-1 negative [HIV-1(,)/Pf(+)]; HIV-1 exposed [HIV-1(exp)/Pf(+)]; and HIV-1 infected [HIV-1(+)/Pf(+)]. Comprehensive clinical, parasitological, and hematological measures were determined upon enrollment. Univariate, correlational, and hierarchical regression analyses were used to determine differences among the groups and to define predictors of worsening anemia. HIV-1(+)/Pf(+) children had significantly more malarial pigment-containing neutrophils (PCN), monocytosis, increased severe anemia (Hb < 6.0 g/dL), and nearly 10-fold greater mortality within 3 months of enrollment. Common causes of anemia in malaria-infected children, such as increased parasitemia or reduced erythropoiesis, did not account for worsening anemia in the HIV-1(+)/Pf(+) group nor did carriage of sickle cell trait or G6PD deficiency. Hierarchical multiple regression analysis revealed that more profound anemia was associated with elevated PCM, younger age, and increasing HIV-1 status ([HIV-1(,) , HIV-1(exp) , HIV-1(+)]. Thus, malaria/HIV-1 coinfection is characterized by more profound anemia and increased mortality, with acquisition of monocytic pigment having the most detrimental impact on Hb levels. Am. J. Hematol., 2010. © 2010 Wiley-Liss, Inc. [source] A ghostly presence,G6PD deficiency,AMERICAN JOURNAL OF HEMATOLOGY, Issue 4 2010Barbara J. Bain No abstract is available for this article. [source] Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method: A pilot study on Filipino male newbornsPEDIATRICS INTERNATIONAL, Issue 1 2003CARMENCITA PADILLA AbstractBackground: Glucose-6-phosphate dehydrogenase (G6PD) deficiency has increased prevalence rates in tropical Africa, tropical and subtropical Asia and some parts of the Mediterranean. Earlier studies on G6PD deficiency in the Philippines have shown prevalence rates of 4.5% to 25.7%. Methods: In the present study, 3278 male newborns were screened for G6PD deficiency using the modified formazan method, a simple screening procedure affordable in the setting of a developing country. Subjects with positive screening results were recalled for confirmatory testing using a commercial assay kit for quantitative enzyme determination. Results: Of the 3278 boys studied, 186 revealed positive screening results. Of the 186, 65 boys had confirmatory testing. Of these 65 boys, 45 were confirmed to have G6PD deficiency and 20 had normal results. This study reveals an incidence of G6PD deficiency of 3.9% among male Filipinos. Conclusion: This study recommends the inclusion of G6PD deficiency in the panel of disorders for newborn screening among Filipino newborns. [source] In vivo gene marking of rhesus macaque long-term repopulating hematopoietic cells using a VSV-G pseudotyped versus amphotropic oncoretroviral vectorTHE JOURNAL OF GENE MEDICINE, Issue 4 2004Patricia A. Shi Abstract Background Gene transfer efficiency into primitive hematopoietic cells may be limited by their expression of surface receptors allowing vector entry. Vectors pseudotyped with the vesicular stomatitis virus (VSV-G) envelope do not need receptors to enter cells, and therefore may provide superior transduction efficiency. Methods Using a competitive repopulation model in the rhesus macaque, we examined in vivo gene marking levels of blood cells transduced with two vectors: (i) a VSV-G pseudotyped retrovirus and (ii) a conventional amphotropic retrovirus. The VSV-G vector, containing the human glucose-6-phosphate dehydrogenase (G6PD) gene, was constructed for treatment of severe hemolytic anemia caused by G6PD deficiency. Three myeloablated animals were transplanted with peripheral blood CD34+ cells, half of which were transduced with the VSV-G vector and the other half with the amphotropic vector. Results In all animals post-transplantation, levels of in vivo marking in circulating granulocytes and mononuclear cells were similar: 1% or less with both vectors. In one animal, the human G6PD enzyme transferred by the VSV-G vector was expressed in erythrocytes, early after transplantation, at a level of 45% of the endogenous rhesus G6PD protein. Conclusions In a clinically relevant animal model, we found similar in vivo marking with a VSV-G pseudotyped and a standard amphotropic oncoretroviral vector. Amphotropic receptor expression may not be a limiting factor in transduction efficiency, but VSV-G pseudotypes possess other practical advantages that may make them advantageous for clinical use. Copyright © 2004 John Wiley & Sons, Ltd. [source] Glucose-6-Phosphate Dehydrogenase Deficiency Associated Stuttering Priapism: Report of a CaseTHE JOURNAL OF SEXUAL MEDICINE, Issue 12 2008David S. Finley MD ABSTRACT Aim., Stuttering priapism is an uncommon form of recurrent priapism whose etiology if often unknown. To date, there has been one report of a patient with stuttering priapism and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Herein we describe the second-known case of recurrent priapism in a patient with G6PD deficiency. The pathophysiology of G6PD deficiency and its potential to cause priapism is reviewed. Methods., A case report is described of a 29-year-old African-American man with G6PD deficiency who presented with numerous episodes of recurrent ischemic priapism. Clinical data was reviewed. Results., Despite medical management with gonadotropin-releasing hormone (GnRH) agonist, an antiandrogen, and baclofen, he required several surgical procedures which also ultimately failed. A continuous phosphodiesterase type-5 inhibitor (PDE5) was started and the patient had no recurrences at 3-month follow-up. Conclusion., Idiopathic recurrent priapism may be explained by underlying hemolytic anemia associated with G6PD deficiency. Several possible mechanisms exist to explain this association, including hyperviscosity, direct endothelial dysfunction secondary to bare hemoglobin vasculotoxicity, and relative nitric oxide deficiency causing vasoconstriction and vascular smooth muscle proliferation. Finley DS. Glucose-6-phosphate dehydrogenase deficiency associated stuttering priapism: Report of a case. J Sex Med **;**:**,**. [source] Cell growth and cholesterol metabolism in human glucose- 6-phosphate dehydrogenase deficient lymphomononuclear cellsCELL PROLIFERATION, Issue 3 2002Batetta B. Atherosclerosis is an inflammatory-fibroproliferative response of the arterial wall involving a complex set of interconnected events where cell proliferation (lymphomonocytes, and endothelial and smooth-muscle cells) and substantial perturbations of intracellular cholesterol metabolism are considered to be among the main features. Glucose-6-phosphate dehydrogenase (G6PD), the key enzyme of the hexose-monophosphate shunt pathway, is an essential enzyme involved in both cell growth and cholesterol metabolism, raising the question as to whether G6PD deficiency may have metabolic and growth implications in a deficient population. In the present study, we investigated cell growth and cholesterol metabolism in peripheral blood lymphomononuclear cells (PBMC) from G6PD-normal (n = 5) and -deficient (n = 5) subjects stimulated with lectins (phytohaemoagglutinin and Concanavalin A). G6PD activity, DNA ([3H]-thymidine incorporation) cholesterol synthesis and esterification ([14C]-acetate and [14C]-oleate incorporation), and G6PD, HMGCoA reductase and low density lipoprotein (LDL) receptor mRNA levels (RT-PCR) all increased following lectin stimulation in both normal and G6PD-deficient cells. However, these parameters were significantly lower in G6PD-deficient cells (P < 0.05). It is of interest that G6PD-deficient PBMC, which showed lower expression of G6PD and higher expression of the LDL receptor gene than normal PBMC under basal conditions, exhibited an opposite pattern after stimulation: G6PD and HMGCoA reductase being expressed at significantly higher levels in deficient than in normal cells (P < 0.05). We conclude that the reduced capability of G6PD-deficient cells to respond to mitogenic stimuli and to synthesize cholesterol esters may represent favourable conditions for reducing the risk of cardiovascular diseases. [source] When should phototherapy be stopped?ACTA PAEDIATRICA, Issue 2 2009A pilot study comparing two targets of serum bilirubin concentration Abstract Objective: The objective of this study was to compare the outcome of two groups of jaundiced newborns randomized to one of the two targets of total serum bilirubin (TSB) for phototherapy discontinuation. Design: Infants treated with phototherapy were assigned to two groups: in the ,high-threshold' group, phototherapy was interrupted when TSB decreased to ,1 mg/dL (17 ,mol/L) below the limit requiring phototherapy and in the ,low-threshold' group when TSB decreased to ,3 mg/dL (51 ,mol/L) below the same limit. Results: Fifty-two infants were enrolled, 25 in the high- and 27 in the low-threshold group. Phototherapy duration was significantly shorter in the high- than in the low-threshold group (22.3 ± 13 vs. 27.6 ± 12 h, respectively, p = 0.03). Length of hospital stay was 84±30 h in the high- and 94 ± 24 h in the low-threshold group (p = 0.05). Additional phototherapy was required in 20% of the high- versus 18% of the low-threshold group (p = 0.58). In the presence of haemolysis or G6PD deficiency, 28% of the infants required re-phototherapy and 8.3% when such factors were absent (p = 0.06). Conclusion: Phototherapy duration may be shortened by using higher TSB limits for interruption. When hyperbilirubinaemia is accompanied by risk factors, the infants should be followed for longer periods, since some of them will need re-phototherapy. [source] | |||||||||||||