Publications by authors named "Sally M El Hefnawy"

11 Publications

  • Page 1 of 1

Uncoupling protein 2 and dynamin-related protein 1 mRNA expressions as genetic markers for plaque psoriasis.

Int J Dermatol 2021 Jul 20. Epub 2021 Jul 20.

Clinical Biochemistry and Molecular Diagnostics, National Liver Institute, Menoufia University, Shebin El-Kom, Egypt.

Background: Psoriasis is a long-lasting, inflammatory disease of the skin with not fully understood pathogenesis. Uncoupling protein 2 (UCP2) and dynamin-related protein 1 (Drp1) are the main mitochondrial regulatory proteins implicated in various inflammatory conditions. This work aimed to evaluate the role of UCP2 and Drp1 messenger RNA (mRNA) expressions in diagnosing plaque psoriasis and to correlate their expression levels with the available clinical data.

Methods: Total number of 210 subjects (105 plaque psoriasis patients and 105 healthy volunteers) was enrolled in the current study. Plasma UCP2 and Drp1 mRNA relative expressions were studied by real-time polymerase chain reaction technique.

Results: A significant statistical decrease in the expression levels of the mitochondrial regulatory proteins UCP2 and Drp1 mRNA in plasma of patient group in comparison to control subjects (P < 0.001). UCP2 mRNA expression was significantly correlated with the onset of disease and scalp affection (P < 0.05). The receiver operating characteristic (ROC) curve was the test used for verification of the accuracy of UCP2 and Drp1 mRNA expressions in identifying cases from healthy control subjects; UCP2 mRNA expression had a greater percent of accuracy (94%), sensitivity (97%), and specificity (87%) than Drp1 mRNA expression.

Conclusions: Although UCP2 and Drp1 mRNA are downregulated in plasma of psoriatic patients, UCP2 could serve better as a promising marker for plaque psoriasis. Despite developments in the treatment of psoriasis, these results provide new insights in disease pathogenesis suggesting UCP2 may be a good target for treatment.
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July 2021

Biochemical and molecular study on serum miRNA-16a and miRNA- 451 as neonatal sepsis biomarkers.

Biochem Biophys Rep 2021 Mar 16;25:100915. Epub 2021 Jan 16.

Medical Biochemistry and Molecular Biology, Faculty of Medicine - Menoufia University, Egypt.

Background: Sepsis is the serious cause of fatality in the unit of medical-intensive care (ICU). Non-coding RNA transcripts are microRNA that control gene expression by repressing translation or degrading mRNA. There are several reports discussing the concept of using miRNAs as sepsis a biomarkers by profiling miRNA dysregulation in sepsis patients' blood samples.

Objectives: The research was aimed at exploring the clinical utility of miRNA-16a and miRNA- 451 for diagnosis of neonatal sepsis.

Subjects: and methods: This research was conducted on 50 full term neonates, 25 neonates with suspected or proven sepsis and 25 clinically healthy sex and age matched neonates with no evidence of sepsis. All newborns have been exposed to clinical review, history taking and laboratory investigations including total & differential count of blood cells, C-reactive protein, blood culture. Serum miRNA-16a and miRNA-451 levels have been assessed using Real Time polymerase chain reaction (Real Time PCR) technique.

Results: Neonates with sepsis had considerably higher levels of miRNA-16a and miRNA- 451 than the healthy neonates (p ≤ 0.001). Receiver operating curve (ROC) showed that serum miRNA-16a was superior to miRNA-451 for diagnosis of sepsis with neonatal origin; it had sensitivity and specificity of 88% and 98% versus 64% and 61% respectively. Cut off point for miRNA-16a to diagnose neonatal sepsis was above or equal 3.16. Also, cut off point for miRNA-451 was above or equal 1.26. miRNA-16 a and miRNA 451 expression was significantly correlated with respiratory rate, WBCs, and CRP.

Conclusion: Both miRNA -16a and miRNA-451 are detected in higher levels in newborn with sepsis compared to controls. MiRNA- 16a could be considered as promising biomarkers for diagnosis of neonatal sepsis.
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March 2021

ESR1 gene polymorphism (rs827421) as a potential genetic marker for constitutional delay of growth and puberty in Egyptian adolescents.

Steroids 2021 02 24;166:108778. Epub 2020 Dec 24.

Medical Biochemistry & Molecular Biology Department, Faculty of Medicine, Menoufia University, Egypt.

Constitutional delay of growth and puberty (CDGP) is a variant of normal pubertal timing and progress. It is the most common form of delayed puberty in both genders. The genetic director of CDGP is ill-understood despite the positive family history result noted in those patients. The current study aimed at assessing the role of estrogen receptor 1 (ESR1) gene variant (rs827421) in Egyptian adolescents with CDGP. A cross-sectional study with follow-up part was carried out on 6760 children aged 4 to15 years. The study focused generally on children aged 13-15 years in order to evaluate the prevalence of delayed puberty in relation to all ages in general and to their peers in specific. Assessment of serum TSH, FSH, and LH was conducted on all participants, along with the measurement of serum-free testosterone for males and estradiol for females. Genotyping of ESR1 (rs827421) was done to all subjects through the use of TaqMan discrimination assay by real-time PCR. ESR1 (rs827421) GG genotype and G allele were significantly dominant among CDGP adolescents in comparison with controls (OR = 25.67 and 6.90). As regards follow-up of testicular size, AA genotype was significantly associated with increased size in the right and left testis compared to other genotypes (P = 0.021 and 0.006, respectively). Moreover, AA genotype showed significantly higher Tanner stage in both males and females in comparison with other genotypes. Serum estradiol level was significantly higher in AA genotype group than other genotypes groups. ESR1 gene polymorphism can be considered a potential genetic marker for CDGP in both sexes in a sample of Egyptian adolescents.
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February 2021

Interleukin-17A biomarker as a predictor for detection of early axial spondyloarthritis changes in patients with psoriasis.

Int J Rheum Dis 2020 Dec 5;23(12):1664-1669. Epub 2020 Oct 5.

Department of Radiology, Faculty of Medicine, Menoufia University, Menoufia, Egypt.

Aim: Although the pathogenic mechanisms of psoriatic arthritis (PsA) are not completely clarified, evidence suggests that interleukin 17A (IL-17A)-mediated immune responses play a pivotal role in the disease. This is best underscored by the important clinical effectiveness of IL-17A inhibitors in psoriasis treatment. We aim to investigate the predictive value of IL-17A in detecting the early axial spondyloarthropic (SpA) changes in psoriatic patients.

Methods: The study enrolled 100 patients with psoriasis, classified into group 1, included 62 patients with only psoriatic skin lesions (Ps), and group 2 included 38 patients with PsA, and 100 age and gender matched healthy volunteers. All participants were subjected to general and local clinical examination, laboratory assessment including IL-17A in the serum by means of enzyme-linked immunosorbent assay, and axial joint radiological assessment.

Results: Our study included 60 males (60%) and 40 females (40%).The positive radiological findings of early axial SpA changes were found among 30.6% of the Ps group and among 84.2% of the PsA group. There were significant differences between patients with positive magnetic resonance imaging (MRI) findings of early axial SpA and patients with negative MRI findings in both groups regarding IL-17A levels. There was a significant association between IL-17A level and early axial SpA changes in psoriatic patients with a clear cutoff point (222.5).

Conclusion: Our study can imply that IL-17A is a valuable, useful and low-cost biomarker in detecting early axial SpA changes in asymptomatic and nonradiographic axial SpA (nr-axial SpA) psoriatic patients that helps early management and prevent progressive axial involvement and disabilities.
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December 2020

Cell-free long non-coding RNAs (LY86-AS1 & HCG27_201and GAS5) as biomarkers for pre-diabetes and type 2 DM in Egypt.

Biochem Biophys Rep 2020 Sep 2;23:100770. Epub 2020 Jun 2.

Medical Biochemistry & Molecular Biology, Menoufia University, Egypt.

Background: Increasing interest has been focused on lncRNAs as potential markers in the pathogenesis and progression of numerous diseases.

Aim: We aimed to investigate the expression pattern and role of cell-free lncRNAs (GAS5, HCG27_201 and LY86-AS1) in pre-diabetic, diabetic and T2DM groups.

Subjects & Methods: Quantification of the expression level of cell-free lncRNAs (GAS5, HCG27_201 and LY86-AS1) was performed by real-time PCR in 210 individuals classified in diabetic (T2DM), pre-diabetic and control groups.

Results: Significant differences were observed in the relative expression level of lncRNAs (GAS5, LY86-AS1 and HCG27_201) among the three studied groups. The LncRNA expression levels decreased gradually from the control to the pre-diabetic group and reached the lowest values in the T2DM group. The A receiver operating characteristic curve (ROC) was applied to identify a cut-off value for each of the three genes among our groups. The three lncRNAs showed promising results in discriminating between the diabetic patients and controls, with HCG27_201 gene expression having the best performance. Furthermore, lncRNA expression was able to predict the future development of DM in the pre-diabetics because ROC analysis among diabetics and pre-diabetics revealed considerable results. GAS5 gene expression showed the best performance. Additionally, HCG27_201 expression was the most valuable biomarker for differentiating between pre-diabetics and controls and presented a sensitivity of 91% and specificity of 64%.

Conclusions: We concluded that cell free lncRNAs (GAS5, LY86-AS1 and HCG27_201) could be considered promising diagnostic and predictive biomarkers for DM and that HCG27_201 could act as a potential diagnostic biomarker for pre-diabetes.
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September 2020

Prevalence of and mothers' knowledge, attitude and practice towards glucose-6-phosphate dehydrogenase deficiency among neonates with jaundice: a cross-sectional study.

BMJ Open 2020 02 25;10(2):e034079. Epub 2020 Feb 25.

Family medicine department, Menoufia faculty of medicine, Shebin El-Kom, Menoufia, Egypt.

Background: Neonatal jaundice (NNJ) is a frequent complication of glucose-6-phosphate dehydrogenase (G6PD) deficiency.

Objectives: To estimate the prevalence of G6PD deficiency among neonates with jaundice and to assess mothers' perception towards G6PD and NNJ.

Methods: A cross-sectional study was carried out on 487 ethnic Egyptian neonates with indirect hyperbilirubinaemia from June 2018 to July 2019. The collected data included maternal and neonatal characteristics. Laboratory investigations included serum bilirubin, reticulocyte count, ABO grouping, Rh typing and neonatal serum G6PD test. Mothers were interviewed individually using a structured, researcher-administered questionnaire to assess their perceptions of G6PD deficiency and NNJ.

Results: The prevalence of G6PD deficiency was 10.10%. Neonates with G6PD deficiency showed higher levels of serum bilirubin (p<0.001). Male gender, family history of G6PD deficiency and consanguinity were risk factors for G6PD deficiency (OR=4.27, 95% CI 1.66 - 10.99; OR=9.54, 95% CI 4.80- 18.95; OR=10.219, 95% CI 5.39 - 19.33, respectively). Mothers' perceptions of NNJ and G6PD were low, with only 30% having good knowledge on NNJ and 17.10% on G6PD deficiency, 46.8% with positive attitude towards NNJ and 45.0% towards G6PD deficiency, and 29.9% with good practice towards NNJ and 19.9% towards G6PD deficiency.

Conclusion: G6PD deficiency seems to be an important cause of NNJ. Mothers' perceptions of both NNJ and G6PD deficiency were low. A mass health education programme on both of these diseases is needed to ensure better and early detection, good timing of treatment, and better prevention of the triggering factors to ensure better health for children.
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February 2020

Simultaneous Assessment of MicroRNAs 126 and 192 in Diabetic Nephropathy Patients and the Relation of these MicroRNAs with Urinary Albumin.

Curr Mol Med 2020 ;20(5):361-371

Clinical Pathology Department, Faculty of Medicine, Menoufia University, Egypt.

Background And Objective: Diabetic nephropathy (DN) is a major determinant of end-stage renal disease (ESRD). Altered microRNA levels lead to serious chronic diseases, such as diabetes. We aimed to measure the expression levels of two microRNAs, microRNA126 and 192 in DN and investigate their connection with albuminuria levels.

Methods: This study included 229 subjects (134 DN patients and 95 controls). Serum lipid profiles, glucose levels, glycated haemoglobin (HbA1c) levels, and renal functions were assayed. The microRNA126 and microRNA192 expression levels were determined by real-time PCR.

Results: Patients with DN had higher weights, BMI values, glucose levels (P<0.001), HbA1c levels (P<0.001), urinary albumin-creatinine ratio (ACR) values (P<0.001), urea levels (P=0.002), and creatinine levels (P=0.004) and lower expression levels of both microRNA192 (P<0.001) and microRNA126 (P<0.001) than controls. MicroRNA126 expression was positively correlated with age, estimated glomerular filtration rate (eGFR) and microRNA192 expression but negatively correlated with blood sugar, HbA1c, urea, creatinine and ACR. MicroRNA192 had higher sensitivity (91%), specificity (94%), and area under the curve (AUC) (0.967) values than microRNA126 (sensitivity, 90%; specificity, 68%; AUC, 0.897) and thus can precisely diagnose DN.

Conclusion: Both MicroRNA126 and microRNA192 expression were obviously associated with DN and might determine the progression of the disease owing to prominent relation with macroalbuminuria.
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June 2021

Plasma von Willebrand Factor and a Disintegrin and Metalloproteinase with Eight Thrombospondin-type 1 Motif Levels in Hemodialysis Patients: Relation to Vascular Access Thrombosis.

Indian J Nephrol 2018 Jul-Aug;28(4):278-282

Department of Medical Biochemistry, Faculty of Medicine, Menoufia University, Menoufia Governorate, Egypt.

Vascular access complications are major issues in hemodialysis (HD) patients, which increase their morbidity and lessen HD efficiency. The aim of this study was to assess von Willebrand factor (VWF), and a disintegrin and metalloproteinase with eight thrombospondin-type 1 motif (ADAMTS13) levels in HD patients and their association with vascular access thrombosis (VAT). This study included a total of 158 individuals including 128 patients undergoing HD for more than 6 months, subdivided into two groups according to the occurrence of the previous episode of VAT; 60 HD patients with VAT and 68 HD patients without VAT and 30 healthy controls. Plasma ADAMTS13 and VWF levels were assessed by enzyme-linked immunosorbent assay technique. There were higher VWF levels and lower ADAMTS13 in HD patients, compared to healthy controls. Furthermore, VWF levels were significantly higher and ADAMTS13 levels were significantly lower in HD patients with VAT than those without VAT. Further prospective studies with large number of patients are thus needed to show if there is causal relationship between higher VWF levels, lower ADAMTS13, and VAT.
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August 2018

Value of Soluble Transferrin Receptors and sTfR/log Ferritin in the Diagnosis of Iron Deficiency Accompanied by Acute Infection.

Indian J Hematol Blood Transfus 2018 Jan 25;34(1):104-109. Epub 2017 May 25.

1Pediatrics Department, Faculty of Medicine, Menoufia University, Shibin El Kom, 32511 Menoufia Egypt.

There are many causes of anemia; the most common of these are acute and chronic infections, iron deficiency, or both. Identifying the cause is a very important step in management of anemia. So, we evaluated the usefulness of soluble transferrin receptor (sTfR) and of the sTfR/log ferritin in the diagnosis of iron deficiency anemia accompanied by acute infection. This study was conducted on 131 children aged 2-11 years old from those who attended the pediatric outpatient clinics in Menoufia university hospital. Hematological indices, iron balance and sTfR were evaluated and the sTfR/log F was calculated for each examined child. From the examined children four groups were distinguished (control): included 34 healthy children with normal iron status (66.7% males, age 4.2 ± 1.2). (IDA): included 38 children diagnosed as iron deficiency anemia (47.4% males, age 4.9 ± 1.6). (IDA + infection): included 26 children with infectious disease (upper respiratory tract infection, otitis media, pneumonia, stomatitis, and urinary tract infection) and anemia meeting criteria of IDA (50% males, age 4.2 ± 0.7). (anemia + infection): included 33 children with infectious anemia without iron deficiency (56.2% males, age 5.06 ± 1.4). It was proved that sTfR and sTfR/log Ferritin were significantly higher in children with anemia due to iron deficiency, and in those with infection + iron deficiency, versus those with infectious anemia or in healthy children. The use of sTfR and sTfR/log ferritin improves the diagnosis of IDA in pediatric patients, especially in the presence of coexisting acute infection.
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January 2018

Assessment of Obesity and Hepatic Late Adverse Effects in the Egyptian Survivors of Pediatric Acute Lymphoblastic Leukemia: a Single Center Study.

Mediterr J Hematol Infect Dis 2017 15;9(1):e2017026. Epub 2017 Apr 15.

Department of Pediatrics, Benha Educational Hospital, Benha, Egypt.

Background: Childhood acute lymphoblastic leukemia (ALL) with current cure rates reaching 80% emphasizes the necessity to determine treatment-related long-term effects. The aim of this study is to estimate the prevalence of overweight, obesity, and hepatic late adverse effects in a cohort of ALL survivors treated at the Hematology and Oncology Unit, Pediatrics Department, Menoufia University, Egypt.

Methods: In this case-control study, height, weight, and body mass index (BMI) were assessed for 35 pediatric ALL survivors and 35 healthy children. These parameters were plotted on the growth and WHO standard deviation charts for both males and females. Overweight and obesity were defined by BMI > 85 and 95 percentile respectively. Laboratory investigations were done in the form of iron profile, liver enzymes, total and direct bilirubin levels, serum urea &creatinine and detection of hepatitis C virus antibodies by ELISA.

Results: The weight and BMI were significantly greater in the survivors than controls (P value =0.002 and 0.039 respectively). ALT, total & direct bilirubin, serum ferritin and transferrin saturation were considerably higher in the survivors than the controls (P value = 0.03, 0.036, 0.044, 0.006 and 0.03 respectively). Ten (28.6%) of survivors had hepatitis C antibodies with none (0%) of controls (P value =0.02).

Conclusions: Pediatric ALL survivors are at increased risk of overweight/obesity, hepatic dysfunction in the form of elevated liver enzymes, bilirubin levels, and C viral hepatitis. Screening of those survivors for such complications should be considered.
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April 2017

HFE gene mutation and iron overload in Egyptian pediatric acute lymphoblastic leukemia survivors: a single-center study.

Hematology 2017 Aug 17;22(7):398-404. Epub 2017 Feb 17.

c Department Pediatrics , Benha Educational Hospital , Benha , Egypt.

Background: Hereditary hemochromatosis gene (HFE) mutations have a role in iron overload in pediatric acute lymphoblastic leukemia (ALL) survivors. We aimed to evaluate the genotype frequency and allelic distribution of the two HFE gene mutations (C282Y and H63D) in a sample of Egyptian pediatric ALL survivors and to detect the impact of these two mutations on their iron profile.

Patients And Methods: This study was performed on 35 ALL survivors during their follow-up visits to the Hematology and Oncology Unit, Pediatric Department, Menoufia University Hospitals. Thirty-five healthy children of matched age and sex were chosen as controls. After completing treatment course, ALL survivors were screened for the prevalence of these two mutations by polymerase chain reaction-restriction fragment length polymorphism. Serum ferritin levels were measured by an enzyme-linked immunosorbent assay technique (ELISA).

Results: C282Y mutation cannot be detected in any of the 35 survivors or the 35 controls. The H63D heterozygous state (CG) was detected in 28.6% of the survivors group and in 20% of controls, while the H63D homozygous (GG) state was detected in 17.1% of survivors. No compound heterozygosity (C282Y/H63D) was detected at both groups with high G allele frequency (31.4%) in survivors more than controls (10%). There were significant higher levels of iron parameters in homozygote survivors than heterozygotes and the controls.

Conclusion: H63D mutation aggravates the iron overload status in pediatric ALL survivors.
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August 2017