Download - CELL-DYN Sapphire and microscopic method comparison for nucleated red blood cells in neonatal blood
Glucose-6-phosphate dehydrogenase deficiency in the newborn inrelation to neonatal hyperbilirubinaemiaVinit Mehrotra a, A. Sharma b, M. Tiwari ba Department of Biochemistry, Himalayan Institute of Medical Sciences,Jollygrant, Doiwala, Dehradun-248140, Indiab Department of Medicine Himalayan Institute of Medical Sciences,Jollygrant, Doiwala, Dehradun-248140, IndiaE-mail address: [email protected].
Background: Hyperbilirubinemia or jaundice is a common problemin newborn infants. Glucose-6-phosphate dehydrogenase (G6PD)deficiency can cause acute hemolysis during oxidative stress and alsosevere hyperbilirubinaemia in the newborn. Our aim was to study theprevalence of G6PD deficiency in relation to neonatal jaundice.
Methods: We performed G6PD assay in the samples of 280subjects. Observation of jaundice and determination of bilirubin levelas well as work up for other causes of jaundice was made in the G6PDdeficiency group compared to a G6PD normal group. 160 wereclinically jaundiced and only 106 were included in the study whereasthe rest were excluded due to presence of direct hyperbilirubinaemia.
Results: Neonatal jaundice was found to be affecting 57.14% withmale to female ratio of 2.4:1 and common cause was physiologicaljaundice 42.45%. It was more severe in cases due to Rh incompat-ibility (mean serum bilirubin level 20.20±0.5 mg/dL) and G6PDdeficiency (mean serum bilirubin level 22.60±5.8), than those dueto other causes. The occurrence of G6PD deficiency in neonatalhyperbilirubinaemia was found to be 7.4%.
The prevalence of G6PD deficiency was higher in males ascompared to females (ratio 7:1), which was statistically significant.Newborns with G6PD deficiency had high risk of developing severehyperbilirubinaemia (Serum Bilirubin>20 mg/dL) hence should bepromptly investigated and managed.
Conclusions: G6PD deficiency is an important cause of neonataljaundice. All the cases with neonatal jaundice should be screened forthe G6PD deficiency, so that early intervention could be instituted, toprevent morbidity and mortality in the newborn.
doi:10.1016/j.clinbiochem.2011.03.087
Novel frameshift mutation in Tunisian cystic fibrosis patientS. Hadj Fredj, M. Boudaya, H. Siala, A. Bibi, T. MessaoudBiochemistry Laboratory, Children's Hospital, Tunis, Tunisia
Background: Cystic fibrosis (CF) is a common autosomal recessivedisorder among Caucasians populations, and carriers being 1/25 andwith an incidence of 1 in 2500 and 1 in 4400 in different populationsdecreasing from North-Western to South-Eastern Europe. There is littleinformation about cystic fibrosis (CF) in many populations of Africanand Arab origin. We report the identification of a novel frameshiftmutation, 3729 delA insTCT, in exon 19 of the CFTR gene.
Methods: We analyzed the complete coding region and flankingintronic sequences of the CFTR gene in a Tunisian CF patient.
Results: Our patient harbored a heterozygous nonsense mutationE1104X and a heterozygous novel frameshift mutation 3729 delAinsTCT. This mutation leads to a premature stop codon 31 nucleotidesdownstream the deletion/insertion, which might result in defectiveproduction and severe phenotype.
Conclusion: 3729 delA insTCT mutation is a novel mutationwhichis not reported previously. This information contributes to definingthe molecular spectrum of CF in Tunisia and will be useful forimproving genetic testing and counseling in the country.
doi:10.1016/j.clinbiochem.2011.03.088
CELL-DYN Sapphire and microscopic method comparisonfor nucleated red blood cells in neonatal bloodK. Mittel, E. Fisic, S. DvornikClinical Department of Laboratory Diagnostics, Clinical Hospital Center,Rijeka, CroatiaE-mail address: [email protected].
Background: Nucleated red blood cells (NRBC) are commonlyseen in the blood of newborns. Common causes of increased NRBCinclude prematurity, increased erythropoiesis from chronic hypoxia,anemia, maternal diabetes, acute stress mediated release from themarrow stores, and postnatal hypoxia. The accurate and fast reportingof NRBC is an important task of the clinical laboratory. The aim of thisstudy was to evaluate the performances of the hematology analyzerCELL-DYN Sapphire (Abbott Diagnostics Division, Santa Clara, CA,USA) in the NRBC measurement and compare them with theconventional microscopic method.
Methods: The analysis included 231 capillary blood samples onCELL-DYNSapphire and bymicroscopic examination of peripheral bloodsmears for NRBC number per 100 WBC (NR/W). Blood was collected inBD Microtainer® tube with K2-EDTA anticoagulant. The CELL-DYNSapphire optical scatter and fluorescence were used to count andcharacterize theNRBC. Specimenswere analyzed in resistant RBCmode.
Results: Average result obtained by CELL-DYN Sapphirewas 1 NR/W(median), ranged from 0 to 55, and by conventional microscopicexamination was 0 NR/W (median), ranged from 0 to 37. Bland andAltmanplotwas used to compare the twomeasurement techniques andrevealed significant proportional error. The difference between the twomethods rose with increased number of NRBC.
Conclusion: The significant divergence between the results wasprobably caused by the fact that instead of approximately one hundredcells during conventional microscopic method, CELL-DYN Sapphiremeasurementswere based on ten thousandsWBC,making resultsmorereliable.
doi:10.1016/j.clinbiochem.2011.03.089
Role of phase II enzyme inducers in the experimental allergicencephalomyelitis (EAE)A. Mohamed a, M. Yunus a, M. Qureshi b, J. Kalra b
a Department of Anatomy and Cell Biology, College of Medicine,University of Saskatchewan, Saskatoon, SK, Canadab Department of Pathology & Lab Medicine, College of Medicine,University of Saskatchewan, Saskatoon, SK, CanadaE-mail address: [email protected].
Background: The pathology of multiple sclerosis (MS) ischaracterized by an inflammatory mononuclear infiltration in thewhite matter, with evidence of oxidative stress playing a role in itsonset and progression. We postulated that decreasing oxidative stressmight help manage MS due to induction of phase 2 enzymes.
Methods: Experimental allergic encephalomyelitis (EAE) wasinduced in 24 Lewis rats. Rats were placed into two groups:1) Control-fed normal rat chow and 2) Treatment-fed chow containing7.5 g/kg of tetra-butylhydroxyanisole (BHA). All animals were adminis-tered 100 μg of guinea pig myelin basic protein to induce EAE andexamined daily (double-blinded). On the 28th day, animals weresacrificed, blood collected for glutathione (GSH) measurements andtissues collected for histology.
Results:All animals, regardless of their diet, developed symptoms ofEAE on different days, ranging from tail weakness to hind limbparalysis,and all of them reached remission of acute EAE before the 28th day ofinduction. Non-BHA fed animals developed hind limb weakness (8animals) and hind limb paralysis (4 animals). BHA fed animals
Abstracts / Clinical Biochemistry 44 (2011) 520–549 537
