Abeer Ramadan - Academia.edu (original) (raw)

Teaching Documents by Abeer Ramadan

Neonatal diabetes mellitus (NDM) is a rare condition with a prevalence of 1 in 300,000 live birth... more Neonatal diabetes mellitus (NDM) is a rare condition with a prevalence of 1 in 300,000 live
births. We have found 3 known SNPs in 50UTR and a novel SNP in 30 UTR in the INS gene.
These SNPs were present in 9-month-old girl from Saudi Arabia and also present in the
father and mother. The novel SNP we found is not present in 1000 Genome project or other
databases. Further, the newly identified 30 UTR mutation in the INS gene may abolish the
polyadenylation signal and result in severe RNA instability

Papers by Abeer Ramadan

Journal of the Arab Society for Medical Research /Journal of the Arab Society for Medical Research, 2023

Archives of Rheumatology

Objectives: In this study, we aimed to better understand the expression of pro-apoptotic Bad and ... more Objectives: In this study, we aimed to better understand the expression of pro-apoptotic Bad and Bax in the pathogenesis of systemic lupus erythematosus (SLE) and their relationship with the disease activity. Patients and methods: Between June 2019 and January 2021, a total of 60 female patients with SLE (median age 29 years; IQR, 25.0-32.0) and 60 age- and sex-matched healthy female controls (median age: 30 years; IQR, 24.0-32.0) were included. The Bax and Bad messenger ribonucleic acid (mRNA) expression was measured by real-time polymerase chain reaction. Results: The expression of Bax and Bad was significantly lower in SLE group than the control group. The median value of mRNA expression of Bax and Bad was 0.72 and 0.84, respectively versus 0.76 and 0.89 in the control group. The median value of (Bax*Bad)/β-actin index was 17.8 in the SLE group and 19.64 in the control group. The expression of both Bax, Bad and (Bax*Bad)/β-actin index had a good significant diagnostic utility (ar...

Egyptian Journal of Medical Human Genetics

Background Steroid-resistant nephrotic syndrome (SRNS) is characterized by unresponsiveness of ne... more Background Steroid-resistant nephrotic syndrome (SRNS) is characterized by unresponsiveness of nephrotic range proteinuria to standard steroid therapy, and is the main cause of childhood renal failure. The identification of more than 53 monogenic causes of SRNS has led researchers to focus on the genetic mutations related to the molecular mechanisms of the disease. Mutations in the PLCE1 gene, which encodes phospholipase C epsilon 1 (PLCε1), have been described in patients with early-onset SRNS characterized by progressive renal failure. In this study we screened for PLCE1 mutations in Egyptian children with SRNS. This is a descriptive case series study aiming to screen for PLCE1 gene mutations by direct sequencing of five exons—9, 12, 15, 19, 27—in 20 Egyptian children with SRNS who entered the Nephrology Unit, Faculty of Medicine, Ain-Shams University from November 2015 to December 2017. The variants detected were submitted to in silico analysis. Results We screened for mutations ...

Egyptian Journal of Medical Human Genetics

Background Behçet's disease (BD) is a chronic, multi-systemic, recurrent condition that affec... more Background Behçet's disease (BD) is a chronic, multi-systemic, recurrent condition that affects the vascular, ocular, mucocutaneous, and central nervous systems. The diagnosis of this disease depends on its clinical features, which are similar to those observed in several diseases, such as Parkinson’s disease, pemphigus vulgaris, systemic lupus erythematosus, Crohn ҆s disease, and Sjӧgren’s syndrome. Lysosome-mediated autophagy is a catabolic, cytoprotective mechanism that maintains cell homeostasis by degrading undesired long-lived proteins and recycling nutrients. The aim of this study was to evaluate the correlations between some autophagy-related genes (ATG5, ATG7, ATG12, LC3b, mTOR) and the pathogenesis and immunopathology of BD. The expression levels of the genes were evaluated by quantitative polymerase chain reaction (qPCR) in 101 individuals that are classified into two groups. Group 1: (n = 71) BD patients, Group 2: (n = 30) healthy controls. Results Patients with BD h...

Open Access Macedonian Journal of Medical Sciences

BACKGROUND: Airway remodeling in children with bronchial asthma is due to the effect of inflammat... more BACKGROUND: Airway remodeling in children with bronchial asthma is due to the effect of inflammatory mediators and growth factors on the bronchial epithelium. Vitamin D (VitD) has immunomodulatory effect in many inflammatory diseases as bronchial asthma. The ant-inflammatory and anti-fibrotic role of VitD could prevent or improve air way remodeling in asthmatic patients. AIM: The study investigated the effect of VitD supplementation on the expression of transforming growth factor-beta (TGF-β), tumor necrosis factor-alpha (TNF-α), and insulin growth factor 1(IGF-1) and to correlate them with asthma severity and level of control. METHODS: The serum level of VitD and the mRNA expression of IGF-1, TGF-β, and TNF-α were estimated in 50 patients and 20 healthy controls control subjects using quantitative PCR in real-time. Asthmatic patients with VitD deficiency received VitD supplementation for 2 months followed by remeasurement of serum VitD and the genes expression TGF-β, TNF-α, and IGF...

Lupus

Objectives Autophagy is a complex cellular process that maintains homeostasis in systemic lupus e... more Objectives Autophagy is a complex cellular process that maintains homeostasis in systemic lupus erythematosus. Abnormally high expression of Bcl-2 was observed in B and T lymphocytes in the peripheral blood in SLE patients. These may be responsible for the survival of self-reactive lymphocytes and the development of lupus, and the study aims at evaluating interaction between apoptosis and autophagy in Egyptian lupus patients. Methods Sixty patients with SLE were diagnosed by fulfilling the Systemic Lupus International Collaborating Clinics (SLICC) classification criteria for SLE and sixty healthy age and sex matched control. All patients were subjected to full medical history and clinical examination. Activity was assessed using SLEDAI-2K score. Gene expression of Beclin-1, Bcl-2-L2, and Bcl-2 was measured. Results The study revealed that the expression of anti-apoptotic Bcl-2 and Bcl-2-L2 was significantly higher in SLE patients than control subjects, as well as the major apoptotic...

Journal, genetic engineering & biotechnology, 2022

BACKGROUND The B30.2 variants lead to most relevant severity forms of familial Mediterranean feve... more BACKGROUND The B30.2 variants lead to most relevant severity forms of familial Mediterranean fever (FMF) manifestations. The B30.2 domain plays a key role in protein-protein interaction (PPI) of pyrin with other apoptosis proteins and in regulation the cascade of inflammatory reactions. Pyrin-casp1 interaction is mainly responsible for the dysregulation of the inflammatory responses in FMF. Lower binding affinity was observed between the mutant B30.2 pyrin and casp1 without the release of the complete pathogenicity mechanism. The aim of this study was to identify the possible effects of the interface pocked residues in B30.2/SPRY-Casp1/p20 complex using molecular mechanics simulation and in silico analysis. RESULTS It was found that Lys671Met, Ser703Ile, and Ala744Ser variants led mainly to shift of the binding affinity (∆G), dissociation constant (Kd), and root mean square deviation (RMSD) in B30.2/SPRY-Casp1/p20 complex leading to dynamic disequilibrium of the p20-B30.2/SPRY compl...

Molecular Genetics and Genomics, 2022

The aim of this study is to screen for variants in NPHS1 and NPHS2, in a cohort of Egyptian child... more The aim of this study is to screen for variants in NPHS1 and NPHS2, in a cohort of Egyptian children with steroid-resistant nephrotic syndrome (SRNS)/focal segmental glomerulosclerosis (FSGS) and compare the prevalence of such variants among other ethnic groups. The study included 25 patients: 21 children diagnosed clinically as steroid-resistant nephrotic syndrome and confirmed as FSGS by renal biopsy and four patients diagnosed as congenital nephrotic syndrome with FSGS. Mutational analysis revealed nine NPHS2 and NPHS1 variants in 13/25 patients with a pathogenic variant detection rate of 52%. NPHS2 variants were found in 8 patients (32%) while five patients from four unrelated families (20%) harbored variants in NPHS1 gene. Six variants were not described before including a likely founder NPHS2 variant in our population, c.596dupA (p.Asn199LysfsTer14). In conclusion, we reported the largest series of patients with SRNS/FSGS from Egypt and identified many novel NPHS1 and NPHS2 variants expanding their mutational spectrum. Further studies on a larger number of patients could provide new insights into the pathogenic mechanisms of SRNS/FSGS which might help in patient's management and prognosis.

Meta Gene, 2018

Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by recurrent f... more Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by recurrent fever and inflammatory attacks. The aim of our study is to evaluate the growth parameters in Egyptian children with FMF and to investigate vitamin D status (serum 25-(OH) D) and some oxidative stress biomarkers during the attack free period in relation to the disease severity. Cases were classified into mild and moderate according to disease severity. Fifty Egyptian children with FMF (25 males and 25 females) and 35 age and sex-matched healthy controls were enrolled in this study. Serum paraoxonase1, malondialdehyde and Serum 25-(OH) D were estimated. Z-scores of weight, height and body mass index were calculated. Of the 50 patients with FMF, 20 (40%) had mild degree of severity and 30 (60%) with moderate degree of severity. The homozygous genotypes mutations of M694I and M694I+M680I were the most frequent (52% and 26%, respectively). Normal growth pattern was detected in both sexes. SerumPON1 and 25-(OH) D were significantly lower in FMF patients than the control group. On the other hand, during the attack free periods serum level of MDA was significantly higher in the moderate group compared to the mild group while PON1 was significantly lower in moderate group. The study suggests persistence of oxidative stress in FMF children during the attack free period. Vitamin D was significantly low in FMF patients. The study recommends the fortification with vitamin D and antioxidant parameters in the FMF patients.

Middle East Journal of Medical Genetics, 2019

Background Familial Mediterranean fever (FMF) is an autosomal recessive autoimmune disease charac... more Background Familial Mediterranean fever (FMF) is an autosomal recessive autoimmune disease characterized by recurrent attacks of fever, peritonitis, pleuritis, arthritis, and renal amyloidosis. Arthritis could be the presenting symptom in many cases. Laser acupuncture has analgesic and anti-inflammatory effects on joint arthritis. Aim To highlight the genetic basis of osteoarthritis in patients with FMF and to highlight the anti-inflammatory effect of laser acupuncture on osteoarthritis of knee joint in Egyptian patients with FMF. Patients and methods A randomized controlled study was performed on 40 Egyptian patients with FMF. Molecular analysis of MEFV gene mutations was performed for all selected patients. Twenty patients with FMF were exposed to low-level laser acupuncture sessions (laser acupuncture group) and 20 other patients with FMF did not receive low-level laser acupuncture sessions (control group). Twelve low-level laser acupuncture sessions were implemented for the grou...

FMolecular Identification of the Most Prevalent Mutations of the Glucose-6-Posphate Dehydrogenase... more FMolecular Identification of the Most Prevalent Mutations of the Glucose-6-Posphate Dehydrogenase (G6PD) Gene in Deficient Egyptian Patients Abeer Ramadan, Magda Abdel Aziz Zeidan, Naglaa Kholoussi, Howyda M Kamal Shaaban, Deena Abd El Latef Elshabrawy and Wahiba A Zarouk Division of Human Genetics & Genome Researches, Department of Molecular Genetics and Enzymology, National Research Centre, 33 Bohouth St. Dokki, Giza, Egypt Department of Clinical & Chemical Pathology, Faculty of Medicine Benha University, Egypt Abstract Introduction Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a common human enzyme deficiency. Molecular abnormalities data from Egypt are scarce, and have not been extensively investigated. To fill this gap, we investigated the frequency of the presence of certain known G6PD mutations among Egyptian patients with G6PD-deficiency. Methods DNA was extracted from 50 G6PD-deficient unrelated male subjects. We have analyzed the G6PD gene mutations in those with ...

The Egyptian Rheumatologist, 2022

Introduction: Systemic lupus erythematosus (SLE) is a connective tissue disorder which involves i... more Introduction: Systemic lupus erythematosus (SLE) is a connective tissue disorder which involves immune system dysregulation. Micro-ribonucleic acids (MiRNAs) up and down regulation are implicated in its development. Aim of the work: To examine the expression levels of certain miRNAs (miR-17, miR-20a, miR-106a, and miR-142-3p) in SLE patients and to investigate which miRNAs are involved in the pathogenesis of SLE, in order to be used as diagnostic or prognostic biomarkers. Patients and methods: 60 patients and 60 matched control were included. SLE disease activity index 2000 (SLEDAI-2 K) was assessed. Assessment of serum miRNAs was done using real-time quantitative polymerized chain reaction. Results: The median age of patients was 29.5 years (24-32) and they were 59 females and 1 male with a median disease duration of 24 (20-48) months and SLEDAI of 5.5 (2.3-9). miR-17a, miR-142, miR-20a and miR-106a were significantly lower in patients (22.5 ± 2.2; 22.8 ± 2.2; 23.4 ± 2.4 and 22.6 ± 2.2) compared with control (23.8 ± 2.1; 24.7 ± 2.2; 25.1 ± 2.4 and 24.4 ± 2.3) (p = 0.002, p < 0.001, p < 0.001 and p < 0.001 respectively). The 4 markers significantly correlated with the SLEDAI (p = 0.002; p = 0.002; p = 0.004 and p = 0.001 respectively). The diagnostic capability of miR-142, miR-20a and miR-106a in predicting SLE showed a specificity of 95%, 98% and 90% at cutoff values of >22.6, >22.1 and >22.8 respectively; area under the curve was 67, 72, 70 and 76% at p-values p = 0.19, p < 0.001, p < 0.001, p < 0.001 respectively. Conclusion: MiR-17, miR-142-3p, miR-20a, and miR-106a have a diagnostic value in SLE and may serve as a therapeutic target for treatment. The studied markers were also related to the disease activity.

Allergologia et Immunopathologia, 2020

BACKGROUND Annexin A1 (ANXA1) is an important anti-inflammatory mediator that may play a signific... more BACKGROUND Annexin A1 (ANXA1) is an important anti-inflammatory mediator that may play a significant role in bronchial asthma. MiR-196a2 can target ANXA1 and therefore may play a role in the pathogenesis of asthma. AIM OF STUDY This is the first study which aimed to evaluate the expression of miR-196a2 in the serum of asthmatic children and correlate its expression with ANXA1 serum level and asthma severity. SUBJECTS AND METHODS The study included 100 asthma patients who were subdivided into three groups (mild, moderate and severe) and 50 healthy control subjects. Assessment of miR-196a2 expression and ANXA1 serum level were done using quantitative reverse transcriptase PCR (RT qPCR) and Elisa techniques, respectively. RESULTS Compared to the control group, asthmatic children showed an increased ANXA1 serum level and decreased expression of miR-196a2 (p=0.001). However, ANXA1 serum level was lower and miR-196a2 expression was higher in severe asthmatic patients compared to moderate asthmatic ones (p=0.01, 0.03). Pearson's correlation coefficient revealed no significant correlations between ANXA1 serum level and miR-196a2 expression in the patient group (p=0.9). CONCLUSIONS Altered miR-196a2 expression and serum ANXA1 concentration may play a role in the pathogenesis of asthma. In addition, ANXA1 and miR-196a2 may represent potential diagnostic biomarkers for asthma and future targets for therapy.

Turkish Journal of Biochemistry, 2020

Alzheimer’s disease is a genetically heterogeneous brain disease which is associated with a decre... more Alzheimer’s disease is a genetically heterogeneous brain disease which is associated with a decrease in thinking capacity and changes in personality. Various gene polymorphisms could be associated with the occurrence of Alzheimer’s disease.ObjectivesThis study aimed at exploring the association of ABCA7 rs3764650, CLU rs11136000, and MS4A6A rs610932 genetic variants with AD in a sample of the Egyptian population.MethodsDNA extraction was done from peripheral blood. Genotyping was done using PCR followed by restriction fragment length polymorphism (RFLP) in 100 Alzheimer patients of age 60 years old or above and 100 cognitively normal controls. DNA sequencing was done for eight samples with different genotypes to confirm the results.ResultsNo significant difference was found in genotypic or allelic distribution of CLU rs11136000 between patients and controls. the frequency of CLU CC genotype among AD patients, was lower in Apo E 4 carriers compared to Apo E 4 non-carriers with a sign...

Gene Reports, 2018

Background and aim: Familial Mediterranean fever (FMF) is the most common monogenic auto-inflamma... more Background and aim: Familial Mediterranean fever (FMF) is the most common monogenic auto-inflammatory disease (AID) characterized by self-limited inflammatory attacks of fever and serosal tissues inflammation. FMF is caused by mutations in the MEFV gene coding for pyrin, which is a component of inflammasome functioning in inflammatory response. The objectives of the investigation were to evaluate the clinical symptoms and screen the most common MEFV variants in the Egyptian FMF patients. Methods: 818 FMF patients were enrolled in this study based on clinical criteria. Three different screening molecular methods were used; ARMs, strip assay and direct Sanger sequencing. Results: The most frequent clinical presentations of the patients were abdominal pain, fever and arthritis. Most of the patients responded to colchicine therapy. MEFV gene mutations were detected in 50.7% of the patients. The most common mutations were; M694I (27.59%), M762A (16.84%), M680I (16.02%), E148Q (10.34%) and M694V (9.33%). Conclusion: This is the largest study on FMF from Egypt. Exon 10 of the MEFV gene recorded hot spot variants in the studied Egyptian FMF patients. We suggest screening for exon 10 as the first step in molecular characterization of FMF patients. Although none of the mutations in exon 10 and 2 were detected in 49.3% of our patients, despite all of them suffered from FMF symptoms and responded well to colchicines. This study recommends full sequencing to MEFV gene in these patients which may help to discover new mutations in Egyptian FMF patients and to design a local diagnostic kit.

Behavioural Brain Research, 2019

Catechol-O-methyltransferase (COMT) enzyme has a major role in the adjustment of catechol-depende... more Catechol-O-methyltransferase (COMT) enzyme has a major role in the adjustment of catechol-dependent functions, for example, cognition, cardiac function, and pain processing. The pathogenesis of autism may be related to dysfunction in the midbrain dopaminergic system. Therefore, we aimed to clarify how COMT gene variants affect dopamine level, and its potential impact on phenotype traits of autistic patients. 52 autistic patients were subjected to comprehensive clinical investigation, sequencing of exon 4 of the COMT gene by direct Sanger Sequencing, and measuring of dopamine levels. The clinical presentations of autistic subjects were correlated with detected COMT variants and dopamine level. Our molecular results revealed that three COMT variants were found: rs8192488 [C > T], rs4680 (Val158Met) and rs4818 [C > G]. Within autistic subjects, Val158Met rs4680 carriers were significantly distributed (71.2% P = 0.014) accompanied with abnormal dopamine, abnormal Electroencephalogram (EEG) and increasing the severity of autistic behaviour. As regards the haplotypes, CC/VM/CG block was significantly distributed among the autistic subjects (30.8%) presented with low mean dopamine level (15.8 ± 4.7 pg/ml, p = 0.05), while CC/MM/CC were presented with high mean level (77.8 ± 8.6 pg/ml, p = 0.05). Evidence is currently limited and preliminary, further studies are necessary in order to set up a coherent dopaminergic model of Autism Spectrum Disorder (ASD), which would further pave the way for an adequate treatment.

Journal of the Arab Society for Medical Research /Journal of the Arab Society for Medical Research, 2023

Archives of Rheumatology

Egyptian Journal of Medical Human Genetics

Open Access Macedonian Journal of Medical Sciences

Lupus

Journal, genetic engineering & biotechnology, 2022

Molecular Genetics and Genomics, 2022

Meta Gene, 2018

Middle East Journal of Medical Genetics, 2019

The Egyptian Rheumatologist, 2022

Allergologia et Immunopathologia, 2020

Turkish Journal of Biochemistry, 2020

Gene Reports, 2018

Behavioural Brain Research, 2019

Meta Gene, 2019

Background: Behçet's Disease (BD) is a polygenic immune-mediated disorder that involves the dysfu... more Background: Behçet's Disease (BD) is a polygenic immune-mediated disorder that involves the dysfunction of regulatory T cells and characterized by a close association with the HLA-B*51 allele. Familial aggregation of the disease has been reported. POU5F1 is a transcription factor which plays a key role in the early mammalian development and in lymphoid tissue differentiation. Recent GWAS studies have shown SNPs in the POU5F1 gene that might contribute to the susceptibility to autoimmune disorders as BD. Objectives: this pilot study was carried out to investigate POU5F1 gene in patients with BD. Methods: venous blood was collected from 40 patients diagnosed with BD and 20 healthy controls. DNA was extracted and Polymerase Chain Reaction was performed to amplify exon 3 and exon 4 of POU5F1 gene followed by DNA Sanger Sequencing. Results: The results showed detection of three SNPs in exon 3 including rs72856736, rs9501063 & rs3130932, and three SNPs in exon 4 including rs9263800, rs3130931 & rs72856737. rs9501063 had increased Allele (C) (P value = .03), and increased combined genotype (GC + CC) in BD patients compared to control (P value = .04). rs9263800 had increased Allele (A) in BD patients compared to control (P value = .04). 9 different haplotypes existed in our subjects. The GCAGTA & AGAGCG haplotypes were more distributed in patients (P value 0.01). the AGCGCG and GGAGCA haplotypes were more distributed in the control (P value < .001, P value = .03 respectively). Conclusions: POU5F1 gene need to be studied on a large number of patients to investigate its possibility of contribution to Behçet's disease susceptibility.