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Egyptian Journal of Laboratory Medicine
Number of Followers: 3  

  This is an Open Access Journal Open Access journal
ISSN (Print) 1110-1873
Published by Medknow Publishers Homepage  [448 journals]
  • The effect of catalase enzyme gene polymorphism A-21T (rs7943316) on
           epilepsy and its drug resistance after hypoxic ischemic brain injury

    • Authors: Hoiyda A Abdel Rasol, Noha K A. El Ghaffar, Yomna S M. El-Sayed, Hadeer M. G E. D. A. El Ghaffar
      Pages: 1 - 7
      Abstract: Hoiyda A Abdel Rasol, Noha K A. El Ghaffar, Yomna S M. El-Sayed, Hadeer M. G E. D. A. El Ghaffar
      The Egyptian Journal of Laboratory Medicine 2020 32(1):1-7
      BackgroundEpilepsy is one of the most common serious neurological disorders, affecting more than 4% of all children. One of the most common conditions leading to epilepsy is hypoxic ischemic encephalopathy (HIE), which is a condition that occurs when the entire brain is deprived of an adequate oxygen supply. Catalase (CAT) is a major cytoplasmic antioxidant enzyme. Considering that the A-21T and C-262T polymorphisms in the promoter region of CAT are associated with the activity of promoter of the CAT, subsequently it may alter the risk of oxidative stress-related disorders. Therefore, polymorphism of the CAT gene can be a candidate marker of the risk of epilepsy.ObjectiveThe aim was to assess if antioxidant CAT gene polymorphism A-21T (rs7943316) contributes to susceptibility to epilepsy, susceptibility to epilepsy after neonatal HIE, susceptibility to epilepsy owing to other causes than neonatal HIE, resistance to antiepileptic medications in epileptic patients after HIE, and/or resistance to antiepileptic medications in epileptic patients owing to causes other than HIE.Patients and methodsThis cross-sectional case–control descriptive analytical study included 105 participants: 70 patients with epilepsy (divided into two groups according to the etiology of epilepsy) were compared with 35 age-matched and sex-matched healthy controls. The patients were recruited from neuropediatrics clinic in Fayoum University Teaching Hospital during a period extending from September 2017 till February 2018. All samples were subjected to genomic DNA analysis of catalase enzyme polymorphism A-21T (rs7943316) using real-time polymerase chain reaction-based method.ResultsThis study showed that there was a statistically significant difference (P < 0.05) between patients with epilepsy due to HIE and controls regarding genotyping, where AA (wild genotype) was higher among controls, whereas AT (heterozygous mutant genotype) was higher among cases. Moreover, AT (heterozygous mutant genotype) and T allele were statistically significantly higher among epilepsy with HIE cases when compared with epilepsy without HIE (P < 0.001 and < 0.01, respectively). However, there was no statistically significant difference in CAT rs7943316 genotype and allele frequency when patients with epilepsy were stratified by drug resistance, electroencephalography, or sex.ConclusionOur study revealed that there was a significant link between CAT A-21T (rs7943316) single nucleotide polymorphism and susceptibility to epilepsy after neonatal HIE. CAT polymorphism does not influence the overall risk of drug resistance among participants with epilepsy after neonatal HIE or owing to other causes than HIE.
      Citation: The Egyptian Journal of Laboratory Medicine 2020 32(1):1-7
      PubDate: Wed,21 Jul 2021
      DOI: 10.4103/ejolm.ejolm_2_20
      Issue No: Vol. 32, No. 1 (2021)
       
  • Genetic variants of vascular endothelial growth factor gene polymorphism
           affect the risk and severity of ischemic stroke: a case–control
           study

    • Authors: Muhammad T Abdel Ghafar, Osama Ragab, Ayman M Al-Malt, Radwa A Eissa, Sara Mina Samy, Sarah R Abd El-Khalik, Hanem Rabahd
      Pages: 8 - 15
      Abstract: Muhammad T Abdel Ghafar, Osama Ragab, Ayman M Al-Malt, Radwa A Eissa, Sara Mina Samy, Sarah R Abd El-Khalik, Hanem Rabahd
      The Egyptian Journal of Laboratory Medicine 2020 32(1):8-15
      Background and objectivesVascular endothelial growth factor (VEGF) is the key mediator of angiogenesis and atherosclerosis. Hence, it may play a major role in the pathogenic mechanisms underlying ischemic stroke (IS) progression. Thus, we conducted this case–control study to explore the genetic association of a single gene polymorphism of VEGF + 936C/T (rs3025039) with the risk and severity of IS and its relation with serum VEGF level.Patients and methodsThis study included a case series of 49 patients with IS with 41 controls. VEGF + 936C/T (rs3025039) variants were determined via Taqman allelic discrimination PCR. Serum VEGF level was estimated using enzyme-linked immunosorbent assay. The frequency of VEGF rs3025039 genotypes and alleles was calculated manually in both cases and controls. The risk ratio was estimated and represented by odds ratio (OR) and 95% confidence interval (CI) adjusted to the confounding variables via multinomial logistic regressions. The stroke severity was assessed by National Institute of Health Stroke Scale. Moreover, serum VEGF levels were compared between the studied groups and among different genotypes and alleles of IS cases.ResultsOur study detected significantly increased frequencies of TT genotype (P = 0.030) and T allele (P = 0.045) in IS cases when compared with the controls. TT genotype represents an increased adjusted risk for IS progression by 9.94 folds (OR: 9.938, 95% CI: 1.235–79.97) and T allele by 2.19 folds (OR: 2.191, 95% CI: 1.004–4.782) over the CC genotypes and C allele, respectively. Moreover, TT genotypes are associated with higher National Institute of Health Stroke Scale. The serum VEGF level was significantly lower in IS cases than controls, and a more decreased level was associated with the T allele carriers in IS cases groups.ConclusionsVEGF rs3025039 gene polymorphism is associated with increased risk and severity of IS and decreased VEGF expression, which may play a major role in the pathogenesis of IS progression.
      Citation: The Egyptian Journal of Laboratory Medicine 2020 32(1):8-15
      PubDate: Wed,21 Jul 2021
      DOI: 10.4103/ejolm.ejolm_3_20
      Issue No: Vol. 32, No. 1 (2021)
       
  • Relation between 25-hydroxy vitamin D serum level and spontaneous
           bacterial peritonitis in patients with liver cirrhosis

    • Authors: Sayed M Shalaby, Essam M Baiumy, Magdy G E. Abd Elrahman, Moataz M Sayed, Rania M Abdel Halim, Ahmed A El Hakeem Amer, Manal Sabry
      Pages: 16 - 20
      Abstract: Sayed M Shalaby, Essam M Baiumy, Magdy G E. Abd Elrahman, Moataz M Sayed, Rania M Abdel Halim, Ahmed A El Hakeem Amer, Manal Sabry
      The Egyptian Journal of Laboratory Medicine 2020 32(1):16-20
      Background and aimBesides its role in calcium metabolism, vitamin D has pleiotropic functions, including immunomodulation, cellular proliferation, and differentiation. Low levels of vitamin D increase the risk for bacterial infections in liver cirrhotic patients, including spontaneous bacterial peritonitis (SBP). This work is conducted to study the relation between serum level of the 25-OH vitamin D and SBP in liver cirrhotic patients.Patients and methodsA total of 90 patients were enrolled in the present study. They were divided into three groups, with 30 patients each: first, patients with compensated liver cirrhosis; second, patients who had decompensated liver cirrhosis without SBP; and third, patients who had decompensated liver cirrhosis with SBP. Different laboratory investigations were carried out, such as liver and kidney functions tests, complete blood count, ascitic neutrophilic count, and serum 25-OH vitamin D level.ResultsIn the present study, the lowest serum 25-OH vitamin D level was found in patients with decompensated liver cirrhosis with SBP, with a highly significant difference between the studied groups.ConclusionIncreased incidence of infections with SBP in cirrhotic patients might be linked to vitamin D deficiency. We recommend vitamin D supplementation to lower the risk of SBP in these cases and thereby mortality rate.
      Citation: The Egyptian Journal of Laboratory Medicine 2020 32(1):16-20
      PubDate: Wed,21 Jul 2021
      DOI: 10.4103/ejolm.ejolm_4_20
      Issue No: Vol. 32, No. 1 (2021)
       
  • A study of vitamin D status in Egyptian pediatric epileptic patients on
           monotherapy antiepileptic drugs: a hospital-based study

    • Authors: Dina Hesham, Lobna Mansour, Ahmed Badr, Dina El Khatib, Doaa Abdou
      Pages: 21 - 25
      Abstract: Dina Hesham, Lobna Mansour, Ahmed Badr, Dina El Khatib, Doaa Abdou
      The Egyptian Journal of Laboratory Medicine 2020 32(1):21-25
      Introduction and aimEpilepsy is a chronic condition with an incidence of 4–10/1000 worldwide. Antiepileptic drugs (AEDs) remain the mainstay of treatment for epilepsy. AEDs in common use are carbamazepine (CBZ), phenytoin, phenobarbitone, and sodium valproate. Long-term therapy by AEDs is associated with bone disorders, affected by both duration and dose of these drugs. The effect of antiepileptic on serum vitamin D levels is controversial and uncertain, so further clinical studies to ascertain the effect of old and newer AEDs on serum levels of vitamin D level in epileptic patients are needed, thus accomplishing a suitable usage of vitamin supplementation. The aim of this study is to assess the longitudinal effect of AEDs on serum 25-hydroxyvitamin D [25(OH) D] levels and bone mineral metabolism markers among Egyptian pediatric epileptic patients on monotherapy AEDs.Participants and methodsThe study was carried out on 62 epileptic patients attending the Neuropediatric Outpatient Clinic, Children's Hospital Cairo University, with history of seizures (age ranges from 1 year up to 12 years), and 64 children not on AEDs as a control group. Daily dietary intake of calories, calcium, and phosphorus was characterized by dietary recall method. Patients on valproate were 37.1% of patients, whereas 32.3% were on levetiracetam and 30.6% were on CBZ. Valproate dose ranged between 10 and 40 mg/kg/day, with a mean dose of 30.4 ± 8.1 mg/kg/day, whereas levetiracetam dose ranged between 20 and 50 mg/kg/day, with a mean dose of 26 ± 8.8 mg/kg/day, and CBZ dose ranged between 15 and 40 mg/kg/day, with a mean dose of 31.8 ± 8.9 mg/kg/day. All patients on AED and control group were evaluated for vitamin D level. Serum calcium, phosphorus, Mg, alkaline phosphatase, alanine aminotransferase, aspartate aminotransferase, creatinine, and urea were measured for both patient and control groups.ResultsMarked vitamin D deficiency was detected in 31 epileptic patients (50%) (mean ± SD: 13.4 ± 7.6 ng/ml) compared with the control group (6.2%) (mean ± SD: 60.4 ± 17.9 ng/ml) (P = 0.000), whereas mild deficiency was remarkable in 19 patients with epilepsy (30.6%) compared with five (7.8%) controls. Overall, 54.8% of the severely deficient patients in vitamin D were on CBZ, whereas 41.9% were on valproate, and 3.2% were on levetiracetam, with statistical significance on comparing vitamin D level with the type of AEDs (P < 0.0005). Laboratory data showed that there was a statistically significant difference in calcium, phosphorus, Mg, and alkaline phosphatase (ALP) levels comparing epileptic patients with the control group (P < 0.000, 0.000, 0.048, and 0.000, respectively).
      Citation: The Egyptian Journal of Laboratory Medicine 2020 32(1):21-25
      PubDate: Wed,21 Jul 2021
      DOI: 10.4103/ejolm.ejolm_5_20
      Issue No: Vol. 32, No. 1 (2021)
       
  • Extracellular superoxide dismutase (SOD3) ALA40THR genetic polymorphism in
           

    • Authors: Ahmed L Aboulnaser, Ahmed S Nasr, Asmaa A Abdel-Aal, Rouwaida A. Seif Al Nasr, Hoda M El Azizy, Osama H Korayem, Wafaa M Abdelghany
      Pages: 26 - 31
      Abstract: Ahmed L Aboulnaser, Ahmed S Nasr, Asmaa A Abdel-Aal, Rouwaida A. Seif Al Nasr, Hoda M El Azizy, Osama H Korayem, Wafaa M Abdelghany
      The Egyptian Journal of Laboratory Medicine 2020 32(1):26-31
      BackgroundPreeclampsia (PE) is a common pregnancy-specific complication, characterized by hypertension and significant proteinuria at or after 20 weeks of pregnancy; it affects ∼ 5–10% of pregnant women worldwide and remains the second leading cause of maternal and perinatal morbidity and mortality. Depletion of antioxidant enzymes such as superoxide dismutase (SOD) might be associated with the development of PE.ObjectiveThis study aimed to investigate the correlation of Ala40Thr polymorphism of SOD3 gene with the severity of PE and its correlation to fetal Doppler flow indices.Materials and methodsThe study was conducted in 250 pregnant women, divided into three groups: 130 controls, 60 mild PE cases, and 60 severe PE cases. They all underwent transabdominal ultrasound for assessment of resistance index and pulsatility index. The polymorphism was detected by PCR restriction fragment length polymorphism.ResultsThere was a significant difference in the SOD3 Ala40Thr polymorphism between preeclamptic patients and controls, with higher risk of mutant GG variant compared with the wild-type AA in patients. The gestational age at delivery and pulsatility index were found to be significantly different among the three genotypes, with higher pulsatility index in severe cases compared with mild cases.ConclusionFollow-up of resistance index and pulsatility index with genotyping of SOD3 can give a clue for early prediction of PE avoiding preterm labor and intrauterine growth restriction.
      Citation: The Egyptian Journal of Laboratory Medicine 2020 32(1):26-31
      PubDate: Wed,21 Jul 2021
      DOI: 10.4103/ejolm.ejolm_6_20
      Issue No: Vol. 32, No. 1 (2021)
       
 
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