Hoda Hagrass - Academia.edu (original) (raw)

Papers by Hoda Hagrass

Research paper thumbnail of Temporal Variations in Seroprevalence of Severe Acute Respiratory Syndrome Coronavirus 2 Infections by Race and Ethnicity in Arkansas

Open Forum Infectious Diseases, 2022

Background The aim of this study was to estimate severe acute respiratory syndrome coronavirus 2 ... more Background The aim of this study was to estimate severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection rates in the small rural state of Arkansas, using SARS-CoV-2 antibody prevalence as an indicator of infection. Methods We collected residual serum samples from adult outpatients seen at hospitals or clinics in Arkansas for non–coronavirus disease 2019 (COVID-19)–related reasons. A total of 5804 samples were identified over 3 time periods: 15 August–5 September 2020 (time period 1), 12 September–24 October 2020 (time period 2), and 7 November–19 December 2020 (time period 3). Results The age-, sex-, race-, and ethnicity-standardized SARS-CoV-2 seroprevalence during each period, from 2.6% in time period 1 to 4.1% in time period 2 and 7.4% in time period 3. No statistically significant difference in seroprevalence was found based on age, sex, or residence (urban vs rural). However, we found higher seroprevalence rates in each time period for Hispanics (17.6%, 20.6%, a...

Research paper thumbnail of CTLA-4 Protein Level in Egyptian Patients with Behçet’s Disease

Attribution License, which permits unrestricted use, distribution, and reproduction in any medium... more Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. This study analyzed the association of the A/G SNP at position +49 of exon-1 in the CTLA-4 gene to the susceptibility and clinical manifestations of Behcet’s disease (BD). It was performed on 60 Egyptian BDpatients and 95 age- and sex-matched healthy controls. The genotypes for the +49 A/G polymorphism of the CTLA-4 gene were determined by PCR-RFLP, while the serum level of CTLA-4 protein was measured by ELISA. CTLA-4 +49 A allele (

Research paper thumbnail of Serum Level of pro Brain Type Natriuretic Peptide in Diuretic Resistance and Diuretic Respondent Ascites in Cirrhotic Patients

Afro-Egyptian Journal of Infectious and Endemic Diseases, 2012

Research paper thumbnail of Influence of Cytokine Gene Polymorphisms on the Risk of Gastric Disorders in H. pylori Infected Patients

Afro-Egyptian Journal of Infectious and Endemic Diseases, 2020

Background and study aim: Helicobacter pylori (H. pylori) is a common organism in developing coun... more Background and study aim: Helicobacter pylori (H. pylori) is a common organism in developing countries, it causes gastric disorders and cancer. Pathogenesis of these disorders involve cytokine gene polymorphisms that affect cytokine levels and clinical diseases. The aim of the study is to identify the relationship of IL-1β-511, IL-10-519 and TNF-α-308 polymorphisms to the risk of H. pylori infection and occurrence of gastric disorders. Subjects and methods: IL-1β-511, IL-10-519 and TNF-α-308 polymorphisms were assessed using polymerase chain reaction (PCR) restriction fragment length polymorphism technique (RFLP) in 356 subjects classified according to H. pylori infection and gastric disorders. Results: Carriers of T allele of IL-1β-511 and IL-10-519 had increased risk of H. pylori infection (OR:1.95, 95% CI:1.4-2.7, P<0.001 & OR:1.8, 95% CI:1.4-2.5, P<0.001; respectively). The IL-1β-511 and IL-10-519 T allele was associated with gastritis, peptic ulcer (PU) & gastric cancer (GC) (P< 0.001). Simultaneous occurrence of either IL-1β-511 TT or IL-10-519 TT genotypes with H. pylori significantly augmented the risk for different gastric diseases (gastritis; P=0.005 & 0.002, PU; P=0.01&0.02 and GC; P=0.02&0.01; respectively). While, the copresence of TNF-α-308 GA+ AA genotypes and H. pylori was related to gastritis only. Conclusion: This study revealed a significant association of the IL-1β-511C/T and IL-10-819C/T but not TNF-α-308 G/A polymorphisms with risk of Helicobacter pylori infection and different gastric diseases in Egyptian patients.

Research paper thumbnail of WWOX-deficiency promotes increased survival by enhancing homology-directed repair

European Journal of Cancer, 2017

a treatment challenge. Despite the improved prognosis of AML (M3) after the introduction of diffe... more a treatment challenge. Despite the improved prognosis of AML (M3) after the introduction of differentiating agents, patients with the rare combination of Fanoni anemia and M3 who didn't receive bone marrow transplantation withstand a dismal prognosis. No conflict of interest. 1410 POSTER Malignant tumors in children: dynamics of disease and survival rate in Republic Northern Ossetia-Alania in 1990−2014

Research paper thumbnail of Association of IL-13 ( -1055 C/T ) and CYP1A1 ( MspI ) Gene Polymorphisms with Chronic Obstructive Pulmonary Disease in Egyptian Patients in Relation to Disease Severity

The Egyptian Journal of Medical Microbiology, 2015

Background: Chronic obstructive pulmonary disease (COPD) is one of the most important causes of m... more Background: Chronic obstructive pulmonary disease (COPD) is one of the most important causes of morbidity and mortality worldwide, characterized by persistent and progressive airflow limitations. The etiology seems to be an interaction between genetic and environmental factors. Objectives : In this study, we aimed to identify the possible association of IL-13 (-1055 C/T) and CYP1A1 (MspI) gene polymorphisms with COPD in Egyptian patients and their relation to the severity of the disease. Methodology: Our study included 200 participants (100 COPD patients and 100 controls). Pulmonary function tests were performed for patients, DNA extraction was done and the polymorphisms were analyzed using polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) for serum samples from all participants. Results: IL-13 -1055 C/T polymorphism was significantly associated with COPD; CT and TT genotypes (P=0.01, 0.03 respectively) compared to CC genotype, with a significant association of the T allele with the disease (P=0.003), while CYP1A1 MspI polymorphism showed no significantly different distribution between patients and controls (P=0.11& 0.068 for CT & CC respectively), while, a significant association between the C (m2) allele and COPD was found (P=0.04). IL-13 -1055 T allele and CYP1A1 MspI C (m2) allele were found to be significantly associated with more severe cases of COPD when compared to the less severe ones (P= 0.03 & 0.02, respectively). Conclusions: IL-13 -1055 C/T polymorphism is associated with COPD, and the presence of IL-13 T allele and CYP1A1 MspI C (m2) allele are risk factors for developing more severe COPD.

Research paper thumbnail of Superantigen Gene Profile of Staphylococcus Aureus Colonizing Egyptian Pediatric Patients with Atopic Dermatitis : Relationship to Disease Severity and Multi-Drug Resistance

The Egyptian Journal of Medical Microbiology, 2015

Background: Eczematous skin of atopic dermatitis (AD) is highly susceptible to infection and colo... more Background: Eczematous skin of atopic dermatitis (AD) is highly susceptible to infection and colonization by Staphylococcus aureus and the superantigen toxins can worsen the condition. Objectives: To assess the colonization of Egyptian pediatric AD patients with S. aureus and to characterize the superantigen gene profile of isolates in relation to severity and to presence of multiple drug resistant (MDR) strains. Methodology: The study included 53 AD pediatric patients and 45 controls. Severity of AD was assessed by scoring atopic dermatitis (SCORAD) index. Swabs were collected to isolate S. aureus. Isolates were subjected to multiplex PCR reactions for detection of six superantigen genes and to antimicrobial susceptibility tests by disc diffusion method. Results: Colonization with S. aureus was significantly higher (P < 0.0001) in AD children compared to controls and was significantly associated (P= 0.001) with severity. Superantigen genes were detected in 30.1% of isolates. The most prevalent genes were sea (64.5%), seb (32.3%), sec (6.5%) and tsst-1 (3.2%). Multidrug resistance was found in 63.1% of strains. Severity of AD was significantly higher with strains harboring superantigen genes (P=0.04) and with MDR strains (P=0.0002). Among methicillin resistant S. aureus (MRSA), seb was the most prevalent superantigen gene (37.5%), while sea was most prevalent in methicillin-susceptible S. aureus (MSSA) (20%), MDR (23.1%) and non MDR isolates (13.2%).Conclusion: Superantigen genes and multidrug resistance are common in S. aureus colonizing AD patients and are associated with severity. More attention should be paid at performing antimicrobial susceptibility testing before antibiotic therapy.

Research paper thumbnail of Wwox–Brca1 interaction: role in DNA repair pathway choice

Oncogene, 2016

In this study, loss of expression of the fragile site-encoded Wwox protein was found to contribut... more In this study, loss of expression of the fragile site-encoded Wwox protein was found to contribute to radiation and cisplatin resistance of cells, responses that could be associated with cancer recurrence and poor outcome. WWOX gene deletions occur in a variety of human cancer types, and reduced Wwox protein expression can be detected early during cancer development. We found that Wwox loss is followed by mild chromosome instability in genomes of mouse embryo fibroblast cells from Wwox-knockout mice. Human and mouse cells deficient for Wwox also exhibit significantly enhanced survival of ionizing radiation and bleomycin treatment, agents that induce double-strand breaks (DSBs). Cancer cells that survive radiation recur more rapidly in a xenograft model of irradiated breast cancer cells; Wwox-deficient cells exhibited significantly shorter tumor latencies vs Wwox-expressing cells. This Wwox effect has important consequences in human disease: in a cohort of cancer patients treated with radiation, Wwox deficiency significantly correlated with shorter overall survival times. In examining mechanisms underlying Wwox-dependent survival differences, we found that Wwox-deficient cells exhibit enhanced homology directed repair (HDR) and decreased nonhomologous end-joining (NHEJ) repair, suggesting that Wwox contributes to DNA DSB repair pathway choice. Upon silencing of Rad51, a protein critical for HDR, Wwox-deficient cells were resensitized to radiation. We also demonstrated interaction of Wwox with Brca1, a driver of HDR, and show via immunofluorescent detection of repair proteins at ionizing radiation-induced DNA damage foci that Wwox expression suppresses DSB repair at the end-resection step of HDR. We propose a genome caretaker function for WWOX, in which Brca1-Wwox interaction supports NHEJ as the dominant DSB repair pathway in Wwox-sufficient cells. Taken together, the experimental results suggest that reduced Wwox expression, a common occurrence in cancers, dysregulates DSB repair, enhancing efficiency of likely mutagenic repair, and enabling radiation and cisplatin treatment resistance.

Research paper thumbnail of Circulating microRNAs - a new horizon in molecular diagnosis of breast cancer

Genes & cancer, 2015

The potential use of microRNAs (miRNAs) as ideal tumor markers has been the focus of recent resea... more The potential use of microRNAs (miRNAs) as ideal tumor markers has been the focus of recent research. Our hypothesis was that circulating miRNAs are differentially expressed in pretherapeutic sera of breast cancer patients compared to controls. Using real-time quantitative polymerase chain reaction (qPCR) analysis, levels of 5 candidate miRNAs (miR10b, miR34a, miR155, miR195 and miR16) were quantified in sera of breast cancer patients and control individuals. Levels of preoperative sera showed significant upregulation of 3.36 fold rise in miR10b (p<0.001), a 2.07 fold rise in miR155 (p =0.005) and remarkable over expression of 11.9 fold rise in miR195 (p<0.001) of cases than controls. There was significant down regulation of miR34a (0.032, p<0.001). The comparison with the clinicopathological data of the breast cancer patients revealed significant high serum level of miR155 (p =0.004) and miR195 (p =0.002) in patients with lymph node metastasis and higher levels of miR10b (...

Research paper thumbnail of The Role of CTLA-4 Exon-1 49 A/G Polymorphism and Soluble CTLA-4 Protein Level in Egyptian Patients with Behçet's Disease

BioMed Research International, 2014

This study analyzed the association of the A/G SNP at position +49 of exon-1 in the CTLA-4 gene t... more This study analyzed the association of the A/G SNP at position +49 of exon-1 in the CTLA-4 gene to the susceptibility and clinical manifestations of Behcet’s disease (BD). It was performed on 60 Egyptian BD patients and 95 age- and sex-matched healthy controls. The genotypes for the +49 A/G polymorphism of the CTLA-4 gene were determined by PCR-RFLP, while the serum level of CTLA-4 protein was measured by ELISA. CTLA-4 +49 A allele (P<0.001,OR=3.084, and CI (95%) = 1.90–4.99) and A/A genotype (P<0.001,OR=6.643, and CI (95%) = 2.58–17.10) frequency distribution was significantly more increased in patients than in the controls, with no significant differences between males and females with regard to the genotype or allele frequency distribution. A/A genotype was associated with a more reduced expression of sCTLA-4 protein in patients than in the controls (1.76±0.19versus1.91±0.30, resp;P<0.0007). In addition, it is associated with the occurrence of ocular and vasculitic manif...

Research paper thumbnail of WWOX (WW domain containing oxidoreductase)

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2008

Hugo: WWOX Other names: FOR; murine name WOX1 Location: 16q23.1 DNA/RNA Description WWOX is compr... more Hugo: WWOX Other names: FOR; murine name WOX1 Location: 16q23.1 DNA/RNA Description WWOX is comprised of 9 coding exons in a region of approximately one million base pairs that includes the common fragile site FRA16D. WWOX (WW domain containing oxidoreductase) Druck T et al.

Research paper thumbnail of Anti-apoptotic effect of spermatogonial stem cells on doxorubicin-induced testicular toxicity in rats

Gene, 2015

The present study was designed to investigate whether spermatogonial stem cells (SSCs) have possi... more The present study was designed to investigate whether spermatogonial stem cells (SSCs) have possible effect on doxorubicin (DOX)-induced testicular apoptosis and damaged oxidant/antioxidant balance in rats. Sixty male Albino rats were divided into 3 groups: the saline control group, the testicular toxicity group (2 mg/kg DOX once a week for 8 weeks) and the third group is a donor stem cells transplanted following pre-treatment with DOX. After the 8th week, the rats were sacrificed and tissues were collected and examined for CD95, CD95L, Caspase 3, and Caspase 8 gene expression using RT-PCR. While malondialdehyde (MDA), glutathione peroxidase (GSH-Px), catalase (CAT), and superoxide dismutase (SOD) were determined using colorimetric kits. Biochemical, histopathological and PCR results showed improvement of the SSCs' group compared to the DOX-group. It was observed that spermatogonial stem cell affected DOX-induced activation of intrinsic apoptotic signaling pathway via preventing DOXinduced increases in CD95 and CD95L levels as well as cleaved Caspase-8 and Caspase-3 levels in testicular tissues, however, spermatogonial stem cell decreased Dox-induced NF-κB activation as well. It can be concluded that SSCs may be utilized to develop new cell-based therapies, and to advance germline gene therapy.

Research paper thumbnail of Increased risk of premature coronary artery disease in Egyptians with ABCA1 (R219K), CETP (TaqIB), and LCAT (4886C/T) genes polymorphism

Journal of clinical lipidology

Epidemiological studies have shown a strong inverse relationship between high-density lipoprotein... more Epidemiological studies have shown a strong inverse relationship between high-density lipoprotein (HDL) cholesterol (HDLc) levels and coronary artery disease (CAD), and a low concentration of plasma HDLc is considered an independent risk factor for premature atherosclerosis. Mutations in ATP-binding cassette A1 transporter (ABCA1), cholesteryl ester transfer protein (CETP), and lecithin: cholesterol acyltransferase (LCAT) reduce HDLc in humans. To date, no study had tested the association between these polymorphisms and premature CAD (PCAD) in the Egyptian population. Here we searched for ABCA1 (rs2230806), CETP (rs708272), and LCAT (rs5923) mutations in the Egyptian population and investigated the possible association between these gene polymorphisms and PCAD. We aimed to investigate the association between ABCA1, CETP, and LCAT gene polymorphisms and PCAD in Egyptians. A total of 235 Egyptians-116 with documented PCAD (PCAD group) and 119 controls-were enrolled in the study. Mutat...

Research paper thumbnail of Baseline serum level of matrix metalloproteinase-3 as a biomarker of progressive joint damage in rheumatoid arthritis patients

International Journal of Rheumatic Diseases, 2014

Aim: Matrix metalloproteinase-3 (MMP-3) plays a pivotal role in the destruction of bone and degra... more Aim: Matrix metalloproteinase-3 (MMP-3) plays a pivotal role in the destruction of bone and degradation of cartilage components in rheumatoid arthritis (RA). We aimed in this study to analyze the relation between baseline levels of MMP-3 and the progression of joint damage in RA. Methods: Eighty-one untreated RA patients with joint symptoms for <1 year were evaluated at baseline and after 12 months as regards erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), rheumatoid factor (RF), anti-cyclic citrullinated peptide (anti-CCP) and plain X-ray of both hands and wrists. Baseline levels of MMP-3 were measured by enzyme-linked immunosorbent assay and magnetic resonance imaging (MRI) of hands/wrists was performed. Disease Activity Score (DAS28) and Health Assessment Questionnaire (HAQ) were performed at baseline evaluation and after 12 months. Results: The baseline MMP-3 levels were significantly higher in the high-progression group compared with the low-progression one (95.75 AE 42.84 vs. 50.45 AE 12.83, P < 0.001). There was a positive correlation between baseline levels of MMP-3 and MRI erosion score and other baseline clinical parameters, except for HAQ and the van der Heijde modification of the Sharp scoring system (SvdH) scores, while after 12 months, there were high positive correlations between MMP-3 and SvdH score, as well as all parameters except for ESR. Conclusion: Serum baseline levels of MMP-3 are strong prognostic markers of disease activity, and act well as an early predictor of progressive joint damage in recent-onset RA disease.

Research paper thumbnail of Local injection of autologous platelet rich plasma and corticosteroid in treatment of lateral epicondylitis and plantar fasciitis: Randomized clinical trial

The Egyptian Rheumatologist, 2012

Aim of the work: This randomized controlled study was designed to compare the effectiveness of lo... more Aim of the work: This randomized controlled study was designed to compare the effectiveness of local injection of autologous platelet rich plasma (PRP) and local steroid in reducing pain and improving function in a cohort of patients with tennis elbow (TE) and plantar fasciitis (PF). Patients and methods: The study population comprised two groups; Group 1 patients with TE (n = 30) and Group 2 patients with PF (n = 30). In each group patients were allocated randomly to receive either a steroid or PRP injections. All patients filled in visual analog scale (VAS), disability of arm, shoulder and hand (DASH) score for TE and foot health status questionnaire (FHSQ) for PF at base line and after 6 weeks. Results: Relative to TE group of patients significant differences were observed between VAS and DASH scores at base line and 6 weeks after treatment in both groups (p < 0.001). While no significant differences were observed relative to VAS and DASH score changes between both groups (p > 0.05). In PF patients comparison of VAS and FHSQ at base line and 6 weeks after treatment between control group and PRP group showed significant differences for VAS (p = 0.

Research paper thumbnail of Estrogen receptor alpha (ERα) promoter methylation status in tumor and serum DNA in Egyptian breast cancer patients

Gene, Jan 15, 2014

Status of DNA methylation is one of the most common molecular alterations in human neoplasia. Bec... more Status of DNA methylation is one of the most common molecular alterations in human neoplasia. Because it is possible to detect these epigenetic alterations in the bloodstream of patients, we investigated the aberrant DNA methylation status of estrogen receptor alpha (ERα) in patient pretherapeutic sera and tissue. In this case control study the patient series consisted of 120 sporadic primary breast cancer cases and 100 patients with benign breast lesion. ER3, ER4, and ER5 primers were used for methylation-specific polymerase chain reaction (MSP) to analyze the CpG methylation of promoter region of ERα gene. Correlation between ER3, ER4, and ER5 methylation and clinicopathological characteristics of the patients was investigated. The methylation status of ER3, ER4 and ER5 was 65%, 26.7% and 61.7% in tissue respectively and 57.5%, 21.7% and 55.8% in serum respectively. The concordance between tumor and serum DNA methylation was 80%, 72% and 92% for ER3, ER4 and ER5 respectively. This...

Research paper thumbnail of Association of FcγRIIB and FcγRIIA R131H gene polymorphisms with renal involvement in Egyptian systemic lupus erythematosus patients

Molecular Biology Reports, 2013

Identification of the genetic basis of systemic lupus erythematosus (SLE) may contribute to the d... more Identification of the genetic basis of systemic lupus erythematosus (SLE) may contribute to the discovery of effective drugs before renal involvement. Our aim of this study was to estimate the association between Fc gamma receptor (FcγR) polymorphisms and SLE and renal involvement in Egyptian patients. FcγRIIB and FcγRIIA R131H gene polymorphisms were genotyped in 180 Egyptian adults. Genotyping for FcγRIIA R131H was performed using allele-specific PCR and FcγRIIB-Ile232 Thr polymorphism was genotyped using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). The study showed that the homozygous genotype (Thr/Thr) of FcγRIIB significantly increased in all SLE patients (90 patients) and in SLE patients complicated with nephritis (61 patients). The Thr allele was significantly associated with an increased risk of the disease in all the patients and in patients complicated with nephritis. Our study demonstrated an association of FcγRIIB polymorphisms with SLE and lupus nephritis and a lack of association of FcγRIIA polymorphisms with SLE in the Egyptian patients.

Research paper thumbnail of Methylation status and protein expression of RASSF1A in breast cancer patients

Molecular Biology Reports, 2013

Recently genetics and epigenetics alterations have been found to be characteristic of malignancy ... more Recently genetics and epigenetics alterations have been found to be characteristic of malignancy and hence can be used as targets for detection of neoplasia. RAS association domain family protein 1A (RASSF1A) gene hypermethylation has been a subject of interest in recent researches on cancer breast patients. The aim of the present study was to evaluate whether RASSF1A methylation status and RASSF1A protein expression are associated with the major clinico-pathological parameters. One hundred and twenty breast cancer Egyptian patients and 100-control subjects diagnosed with benign lesions of the breast were enrolled in this study. We evaluated RASSF1A methylation status in tissue and serum samples using Methyl specific PCR together with RASSF1A protein expression in tissues by immunohistochemistry. Results were studied in relation to known prognostic clinicopathological features in breast cancer. Frequency of RASSF1A methylation in tissues and serum were 70 and 63.3 % respectively and RASSF1A protein expression showed frequency of 46.7 %. There was an association between RASSF1A methylation in tissues, serum and loss of protein expression in tissues with invasive carcinoma, advanced stage breast cancer, L.N. metastasis, ER/PR and HER2 negativity. RASSF1A methylation in serum showed high degree of concordance with methylation in tissues (Kappa = 0.851, P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). RASSF1A hypermethylation in tissues and serum and its protein expression may be a valid, reliable and sensitive tool for detection and follow up of breast cancer patients.

Research paper thumbnail of Vitamin D status and vitamin D receptor gene polymorphisms and susceptibility to type 1 diabetes in Egyptian children

Gene, 2014

Objectives: To investigate if vitamin D receptor (VDR) gene polymorphisms and circulating vitamin... more Objectives: To investigate if vitamin D receptor (VDR) gene polymorphisms and circulating vitamin D levels are associated with pelvic floor disorders (PFDs). Methods: In this case-control study, 25-hydroxy-vitamin D (25[OH]D) serum levels were analyzed in 47 females with PFDs and 87 healthy females (controls), respectively. The VDR gene polymorphisms were determined by using polymerase chain reaction and performing digestions with 4 restriction enzymes i.e., ApaI, TaqI, FokI, and BsmI. Vitamin D levels of patients were divided into <20 ng/mL, 20 to 30 ng/mL, and ≥30 ng/mL categories. Results: Our correlative analysis of VDR polymorphisms as a function of the presence of PFD showed that ApaI and BsmI polymorphisms were significantly associated with PFD in vitamin-D-deficiency and insufficiency groups (P < 0.05). Mean vitamin D levels did not differ between the PFD case (13.01 ± 0.84 ng/mL) and control (15.11 ± 1.04 ng/mL) groups (P > 0.05). However, there was a significant difference in the distribution of vitamin D levels between study group and controls using Pearson's x 2 test (<20 ng/mL, 20-30 ng/mL, and >30 ng/mL: 87.2%, 12.8%, and 0% in the study group and 75.9%, 16.1%, and 8.0% in controls, respectively, P < 0.05). Taken together, our observations suggest that vitamin D levels could be associated with PFDs and that 2 polymorphisms (i.e., ApaI and BsmI) in the VDR gene may contribute to an increased prevalence of PFDs in women with insufficient levels of vitamin D. Conclusions: Examining vitamin D levels and performing a VDR genotype analysis may be helpful for assessing PFD risk.

Research paper thumbnail of Cytokines genes polymorphisms in chronic hepatitis C: Impact on susceptibility to infection and response to therapy

Cytokine, 2013

Background: Cytokines play a key role in the regulation of immune responses. In hepatitis C virus... more Background: Cytokines play a key role in the regulation of immune responses. In hepatitis C virus infection, the production of abnormal cytokine levels appears to contribute in the progression of the disease, viral persistence, and affects response to therapy. Cytokine genes polymorphisms located within the coding/regulatory regions have been shown to affect the overall expression and secretion of cytokines. The aim of the study was to evaluate the association of of IL28B rs12979860, TGF-b1-509, TNF-a 308, and IL-10-1082 polymorphisms with the susceptibility to hepatitis C virus genotype 4 infection and response to pegylated interferon-a and ribavirin therapy. Methods: IL28B, TGF-b1 and TNF-a genes polymorphisms were genotyped using polymerase chain reaction (PCR)-based restriction fragment length polymorphism assay while IL-10 gene polymorphism was detected by sequence specific primer-PCR in 220 healthy individuals and 440 hepatitis C infected patients (220 sustained virological response and 220 non-responder to combination therapy). Results: IL28 B CT and TT, TGF-b1 CT and TT and TNF-a AG and AA genotypes were significantly associated with susceptibility to hepatitis C infection and response to therapy. While no association was found between IL-10 gene polymorphism and susceptibility to HCV infection and response to treatment. Conclusions: These results suggested that inheritance of IL28B CT and TT, TGF-b1 CT and TT and TNF-a AG and AA genotypes which appear to affect the cytokine production may be associated with susceptibility to HCV infection and resistance to combined antiviral therapy.

Research paper thumbnail of Temporal Variations in Seroprevalence of Severe Acute Respiratory Syndrome Coronavirus 2 Infections by Race and Ethnicity in Arkansas

Open Forum Infectious Diseases, 2022

Background The aim of this study was to estimate severe acute respiratory syndrome coronavirus 2 ... more Background The aim of this study was to estimate severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection rates in the small rural state of Arkansas, using SARS-CoV-2 antibody prevalence as an indicator of infection. Methods We collected residual serum samples from adult outpatients seen at hospitals or clinics in Arkansas for non–coronavirus disease 2019 (COVID-19)–related reasons. A total of 5804 samples were identified over 3 time periods: 15 August–5 September 2020 (time period 1), 12 September–24 October 2020 (time period 2), and 7 November–19 December 2020 (time period 3). Results The age-, sex-, race-, and ethnicity-standardized SARS-CoV-2 seroprevalence during each period, from 2.6% in time period 1 to 4.1% in time period 2 and 7.4% in time period 3. No statistically significant difference in seroprevalence was found based on age, sex, or residence (urban vs rural). However, we found higher seroprevalence rates in each time period for Hispanics (17.6%, 20.6%, a...

Research paper thumbnail of CTLA-4 Protein Level in Egyptian Patients with Behçet’s Disease

Attribution License, which permits unrestricted use, distribution, and reproduction in any medium... more Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. This study analyzed the association of the A/G SNP at position +49 of exon-1 in the CTLA-4 gene to the susceptibility and clinical manifestations of Behcet’s disease (BD). It was performed on 60 Egyptian BDpatients and 95 age- and sex-matched healthy controls. The genotypes for the +49 A/G polymorphism of the CTLA-4 gene were determined by PCR-RFLP, while the serum level of CTLA-4 protein was measured by ELISA. CTLA-4 +49 A allele (

Research paper thumbnail of Serum Level of pro Brain Type Natriuretic Peptide in Diuretic Resistance and Diuretic Respondent Ascites in Cirrhotic Patients

Afro-Egyptian Journal of Infectious and Endemic Diseases, 2012

Research paper thumbnail of Influence of Cytokine Gene Polymorphisms on the Risk of Gastric Disorders in H. pylori Infected Patients

Afro-Egyptian Journal of Infectious and Endemic Diseases, 2020

Background and study aim: Helicobacter pylori (H. pylori) is a common organism in developing coun... more Background and study aim: Helicobacter pylori (H. pylori) is a common organism in developing countries, it causes gastric disorders and cancer. Pathogenesis of these disorders involve cytokine gene polymorphisms that affect cytokine levels and clinical diseases. The aim of the study is to identify the relationship of IL-1β-511, IL-10-519 and TNF-α-308 polymorphisms to the risk of H. pylori infection and occurrence of gastric disorders. Subjects and methods: IL-1β-511, IL-10-519 and TNF-α-308 polymorphisms were assessed using polymerase chain reaction (PCR) restriction fragment length polymorphism technique (RFLP) in 356 subjects classified according to H. pylori infection and gastric disorders. Results: Carriers of T allele of IL-1β-511 and IL-10-519 had increased risk of H. pylori infection (OR:1.95, 95% CI:1.4-2.7, P<0.001 & OR:1.8, 95% CI:1.4-2.5, P<0.001; respectively). The IL-1β-511 and IL-10-519 T allele was associated with gastritis, peptic ulcer (PU) & gastric cancer (GC) (P< 0.001). Simultaneous occurrence of either IL-1β-511 TT or IL-10-519 TT genotypes with H. pylori significantly augmented the risk for different gastric diseases (gastritis; P=0.005 & 0.002, PU; P=0.01&0.02 and GC; P=0.02&0.01; respectively). While, the copresence of TNF-α-308 GA+ AA genotypes and H. pylori was related to gastritis only. Conclusion: This study revealed a significant association of the IL-1β-511C/T and IL-10-819C/T but not TNF-α-308 G/A polymorphisms with risk of Helicobacter pylori infection and different gastric diseases in Egyptian patients.

Research paper thumbnail of WWOX-deficiency promotes increased survival by enhancing homology-directed repair

European Journal of Cancer, 2017

a treatment challenge. Despite the improved prognosis of AML (M3) after the introduction of diffe... more a treatment challenge. Despite the improved prognosis of AML (M3) after the introduction of differentiating agents, patients with the rare combination of Fanoni anemia and M3 who didn't receive bone marrow transplantation withstand a dismal prognosis. No conflict of interest. 1410 POSTER Malignant tumors in children: dynamics of disease and survival rate in Republic Northern Ossetia-Alania in 1990−2014

Research paper thumbnail of Association of IL-13 ( -1055 C/T ) and CYP1A1 ( MspI ) Gene Polymorphisms with Chronic Obstructive Pulmonary Disease in Egyptian Patients in Relation to Disease Severity

The Egyptian Journal of Medical Microbiology, 2015

Background: Chronic obstructive pulmonary disease (COPD) is one of the most important causes of m... more Background: Chronic obstructive pulmonary disease (COPD) is one of the most important causes of morbidity and mortality worldwide, characterized by persistent and progressive airflow limitations. The etiology seems to be an interaction between genetic and environmental factors. Objectives : In this study, we aimed to identify the possible association of IL-13 (-1055 C/T) and CYP1A1 (MspI) gene polymorphisms with COPD in Egyptian patients and their relation to the severity of the disease. Methodology: Our study included 200 participants (100 COPD patients and 100 controls). Pulmonary function tests were performed for patients, DNA extraction was done and the polymorphisms were analyzed using polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) for serum samples from all participants. Results: IL-13 -1055 C/T polymorphism was significantly associated with COPD; CT and TT genotypes (P=0.01, 0.03 respectively) compared to CC genotype, with a significant association of the T allele with the disease (P=0.003), while CYP1A1 MspI polymorphism showed no significantly different distribution between patients and controls (P=0.11& 0.068 for CT & CC respectively), while, a significant association between the C (m2) allele and COPD was found (P=0.04). IL-13 -1055 T allele and CYP1A1 MspI C (m2) allele were found to be significantly associated with more severe cases of COPD when compared to the less severe ones (P= 0.03 & 0.02, respectively). Conclusions: IL-13 -1055 C/T polymorphism is associated with COPD, and the presence of IL-13 T allele and CYP1A1 MspI C (m2) allele are risk factors for developing more severe COPD.

Research paper thumbnail of Superantigen Gene Profile of Staphylococcus Aureus Colonizing Egyptian Pediatric Patients with Atopic Dermatitis : Relationship to Disease Severity and Multi-Drug Resistance

The Egyptian Journal of Medical Microbiology, 2015

Background: Eczematous skin of atopic dermatitis (AD) is highly susceptible to infection and colo... more Background: Eczematous skin of atopic dermatitis (AD) is highly susceptible to infection and colonization by Staphylococcus aureus and the superantigen toxins can worsen the condition. Objectives: To assess the colonization of Egyptian pediatric AD patients with S. aureus and to characterize the superantigen gene profile of isolates in relation to severity and to presence of multiple drug resistant (MDR) strains. Methodology: The study included 53 AD pediatric patients and 45 controls. Severity of AD was assessed by scoring atopic dermatitis (SCORAD) index. Swabs were collected to isolate S. aureus. Isolates were subjected to multiplex PCR reactions for detection of six superantigen genes and to antimicrobial susceptibility tests by disc diffusion method. Results: Colonization with S. aureus was significantly higher (P < 0.0001) in AD children compared to controls and was significantly associated (P= 0.001) with severity. Superantigen genes were detected in 30.1% of isolates. The most prevalent genes were sea (64.5%), seb (32.3%), sec (6.5%) and tsst-1 (3.2%). Multidrug resistance was found in 63.1% of strains. Severity of AD was significantly higher with strains harboring superantigen genes (P=0.04) and with MDR strains (P=0.0002). Among methicillin resistant S. aureus (MRSA), seb was the most prevalent superantigen gene (37.5%), while sea was most prevalent in methicillin-susceptible S. aureus (MSSA) (20%), MDR (23.1%) and non MDR isolates (13.2%).Conclusion: Superantigen genes and multidrug resistance are common in S. aureus colonizing AD patients and are associated with severity. More attention should be paid at performing antimicrobial susceptibility testing before antibiotic therapy.

Research paper thumbnail of Wwox–Brca1 interaction: role in DNA repair pathway choice

Oncogene, 2016

In this study, loss of expression of the fragile site-encoded Wwox protein was found to contribut... more In this study, loss of expression of the fragile site-encoded Wwox protein was found to contribute to radiation and cisplatin resistance of cells, responses that could be associated with cancer recurrence and poor outcome. WWOX gene deletions occur in a variety of human cancer types, and reduced Wwox protein expression can be detected early during cancer development. We found that Wwox loss is followed by mild chromosome instability in genomes of mouse embryo fibroblast cells from Wwox-knockout mice. Human and mouse cells deficient for Wwox also exhibit significantly enhanced survival of ionizing radiation and bleomycin treatment, agents that induce double-strand breaks (DSBs). Cancer cells that survive radiation recur more rapidly in a xenograft model of irradiated breast cancer cells; Wwox-deficient cells exhibited significantly shorter tumor latencies vs Wwox-expressing cells. This Wwox effect has important consequences in human disease: in a cohort of cancer patients treated with radiation, Wwox deficiency significantly correlated with shorter overall survival times. In examining mechanisms underlying Wwox-dependent survival differences, we found that Wwox-deficient cells exhibit enhanced homology directed repair (HDR) and decreased nonhomologous end-joining (NHEJ) repair, suggesting that Wwox contributes to DNA DSB repair pathway choice. Upon silencing of Rad51, a protein critical for HDR, Wwox-deficient cells were resensitized to radiation. We also demonstrated interaction of Wwox with Brca1, a driver of HDR, and show via immunofluorescent detection of repair proteins at ionizing radiation-induced DNA damage foci that Wwox expression suppresses DSB repair at the end-resection step of HDR. We propose a genome caretaker function for WWOX, in which Brca1-Wwox interaction supports NHEJ as the dominant DSB repair pathway in Wwox-sufficient cells. Taken together, the experimental results suggest that reduced Wwox expression, a common occurrence in cancers, dysregulates DSB repair, enhancing efficiency of likely mutagenic repair, and enabling radiation and cisplatin treatment resistance.

Research paper thumbnail of Circulating microRNAs - a new horizon in molecular diagnosis of breast cancer

Genes & cancer, 2015

The potential use of microRNAs (miRNAs) as ideal tumor markers has been the focus of recent resea... more The potential use of microRNAs (miRNAs) as ideal tumor markers has been the focus of recent research. Our hypothesis was that circulating miRNAs are differentially expressed in pretherapeutic sera of breast cancer patients compared to controls. Using real-time quantitative polymerase chain reaction (qPCR) analysis, levels of 5 candidate miRNAs (miR10b, miR34a, miR155, miR195 and miR16) were quantified in sera of breast cancer patients and control individuals. Levels of preoperative sera showed significant upregulation of 3.36 fold rise in miR10b (p<0.001), a 2.07 fold rise in miR155 (p =0.005) and remarkable over expression of 11.9 fold rise in miR195 (p<0.001) of cases than controls. There was significant down regulation of miR34a (0.032, p<0.001). The comparison with the clinicopathological data of the breast cancer patients revealed significant high serum level of miR155 (p =0.004) and miR195 (p =0.002) in patients with lymph node metastasis and higher levels of miR10b (...

Research paper thumbnail of The Role of CTLA-4 Exon-1 49 A/G Polymorphism and Soluble CTLA-4 Protein Level in Egyptian Patients with Behçet's Disease

BioMed Research International, 2014

This study analyzed the association of the A/G SNP at position +49 of exon-1 in the CTLA-4 gene t... more This study analyzed the association of the A/G SNP at position +49 of exon-1 in the CTLA-4 gene to the susceptibility and clinical manifestations of Behcet’s disease (BD). It was performed on 60 Egyptian BD patients and 95 age- and sex-matched healthy controls. The genotypes for the +49 A/G polymorphism of the CTLA-4 gene were determined by PCR-RFLP, while the serum level of CTLA-4 protein was measured by ELISA. CTLA-4 +49 A allele (P<0.001,OR=3.084, and CI (95%) = 1.90–4.99) and A/A genotype (P<0.001,OR=6.643, and CI (95%) = 2.58–17.10) frequency distribution was significantly more increased in patients than in the controls, with no significant differences between males and females with regard to the genotype or allele frequency distribution. A/A genotype was associated with a more reduced expression of sCTLA-4 protein in patients than in the controls (1.76±0.19versus1.91±0.30, resp;P<0.0007). In addition, it is associated with the occurrence of ocular and vasculitic manif...

Research paper thumbnail of WWOX (WW domain containing oxidoreductase)

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2008

Hugo: WWOX Other names: FOR; murine name WOX1 Location: 16q23.1 DNA/RNA Description WWOX is compr... more Hugo: WWOX Other names: FOR; murine name WOX1 Location: 16q23.1 DNA/RNA Description WWOX is comprised of 9 coding exons in a region of approximately one million base pairs that includes the common fragile site FRA16D. WWOX (WW domain containing oxidoreductase) Druck T et al.

Research paper thumbnail of Anti-apoptotic effect of spermatogonial stem cells on doxorubicin-induced testicular toxicity in rats

Gene, 2015

The present study was designed to investigate whether spermatogonial stem cells (SSCs) have possi... more The present study was designed to investigate whether spermatogonial stem cells (SSCs) have possible effect on doxorubicin (DOX)-induced testicular apoptosis and damaged oxidant/antioxidant balance in rats. Sixty male Albino rats were divided into 3 groups: the saline control group, the testicular toxicity group (2 mg/kg DOX once a week for 8 weeks) and the third group is a donor stem cells transplanted following pre-treatment with DOX. After the 8th week, the rats were sacrificed and tissues were collected and examined for CD95, CD95L, Caspase 3, and Caspase 8 gene expression using RT-PCR. While malondialdehyde (MDA), glutathione peroxidase (GSH-Px), catalase (CAT), and superoxide dismutase (SOD) were determined using colorimetric kits. Biochemical, histopathological and PCR results showed improvement of the SSCs' group compared to the DOX-group. It was observed that spermatogonial stem cell affected DOX-induced activation of intrinsic apoptotic signaling pathway via preventing DOXinduced increases in CD95 and CD95L levels as well as cleaved Caspase-8 and Caspase-3 levels in testicular tissues, however, spermatogonial stem cell decreased Dox-induced NF-κB activation as well. It can be concluded that SSCs may be utilized to develop new cell-based therapies, and to advance germline gene therapy.

Research paper thumbnail of Increased risk of premature coronary artery disease in Egyptians with ABCA1 (R219K), CETP (TaqIB), and LCAT (4886C/T) genes polymorphism

Journal of clinical lipidology

Epidemiological studies have shown a strong inverse relationship between high-density lipoprotein... more Epidemiological studies have shown a strong inverse relationship between high-density lipoprotein (HDL) cholesterol (HDLc) levels and coronary artery disease (CAD), and a low concentration of plasma HDLc is considered an independent risk factor for premature atherosclerosis. Mutations in ATP-binding cassette A1 transporter (ABCA1), cholesteryl ester transfer protein (CETP), and lecithin: cholesterol acyltransferase (LCAT) reduce HDLc in humans. To date, no study had tested the association between these polymorphisms and premature CAD (PCAD) in the Egyptian population. Here we searched for ABCA1 (rs2230806), CETP (rs708272), and LCAT (rs5923) mutations in the Egyptian population and investigated the possible association between these gene polymorphisms and PCAD. We aimed to investigate the association between ABCA1, CETP, and LCAT gene polymorphisms and PCAD in Egyptians. A total of 235 Egyptians-116 with documented PCAD (PCAD group) and 119 controls-were enrolled in the study. Mutat...

Research paper thumbnail of Baseline serum level of matrix metalloproteinase-3 as a biomarker of progressive joint damage in rheumatoid arthritis patients

International Journal of Rheumatic Diseases, 2014

Aim: Matrix metalloproteinase-3 (MMP-3) plays a pivotal role in the destruction of bone and degra... more Aim: Matrix metalloproteinase-3 (MMP-3) plays a pivotal role in the destruction of bone and degradation of cartilage components in rheumatoid arthritis (RA). We aimed in this study to analyze the relation between baseline levels of MMP-3 and the progression of joint damage in RA. Methods: Eighty-one untreated RA patients with joint symptoms for <1 year were evaluated at baseline and after 12 months as regards erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), rheumatoid factor (RF), anti-cyclic citrullinated peptide (anti-CCP) and plain X-ray of both hands and wrists. Baseline levels of MMP-3 were measured by enzyme-linked immunosorbent assay and magnetic resonance imaging (MRI) of hands/wrists was performed. Disease Activity Score (DAS28) and Health Assessment Questionnaire (HAQ) were performed at baseline evaluation and after 12 months. Results: The baseline MMP-3 levels were significantly higher in the high-progression group compared with the low-progression one (95.75 AE 42.84 vs. 50.45 AE 12.83, P < 0.001). There was a positive correlation between baseline levels of MMP-3 and MRI erosion score and other baseline clinical parameters, except for HAQ and the van der Heijde modification of the Sharp scoring system (SvdH) scores, while after 12 months, there were high positive correlations between MMP-3 and SvdH score, as well as all parameters except for ESR. Conclusion: Serum baseline levels of MMP-3 are strong prognostic markers of disease activity, and act well as an early predictor of progressive joint damage in recent-onset RA disease.

Research paper thumbnail of Local injection of autologous platelet rich plasma and corticosteroid in treatment of lateral epicondylitis and plantar fasciitis: Randomized clinical trial

The Egyptian Rheumatologist, 2012

Aim of the work: This randomized controlled study was designed to compare the effectiveness of lo... more Aim of the work: This randomized controlled study was designed to compare the effectiveness of local injection of autologous platelet rich plasma (PRP) and local steroid in reducing pain and improving function in a cohort of patients with tennis elbow (TE) and plantar fasciitis (PF). Patients and methods: The study population comprised two groups; Group 1 patients with TE (n = 30) and Group 2 patients with PF (n = 30). In each group patients were allocated randomly to receive either a steroid or PRP injections. All patients filled in visual analog scale (VAS), disability of arm, shoulder and hand (DASH) score for TE and foot health status questionnaire (FHSQ) for PF at base line and after 6 weeks. Results: Relative to TE group of patients significant differences were observed between VAS and DASH scores at base line and 6 weeks after treatment in both groups (p < 0.001). While no significant differences were observed relative to VAS and DASH score changes between both groups (p > 0.05). In PF patients comparison of VAS and FHSQ at base line and 6 weeks after treatment between control group and PRP group showed significant differences for VAS (p = 0.

Research paper thumbnail of Estrogen receptor alpha (ERα) promoter methylation status in tumor and serum DNA in Egyptian breast cancer patients

Gene, Jan 15, 2014

Status of DNA methylation is one of the most common molecular alterations in human neoplasia. Bec... more Status of DNA methylation is one of the most common molecular alterations in human neoplasia. Because it is possible to detect these epigenetic alterations in the bloodstream of patients, we investigated the aberrant DNA methylation status of estrogen receptor alpha (ERα) in patient pretherapeutic sera and tissue. In this case control study the patient series consisted of 120 sporadic primary breast cancer cases and 100 patients with benign breast lesion. ER3, ER4, and ER5 primers were used for methylation-specific polymerase chain reaction (MSP) to analyze the CpG methylation of promoter region of ERα gene. Correlation between ER3, ER4, and ER5 methylation and clinicopathological characteristics of the patients was investigated. The methylation status of ER3, ER4 and ER5 was 65%, 26.7% and 61.7% in tissue respectively and 57.5%, 21.7% and 55.8% in serum respectively. The concordance between tumor and serum DNA methylation was 80%, 72% and 92% for ER3, ER4 and ER5 respectively. This...

Research paper thumbnail of Association of FcγRIIB and FcγRIIA R131H gene polymorphisms with renal involvement in Egyptian systemic lupus erythematosus patients

Molecular Biology Reports, 2013

Identification of the genetic basis of systemic lupus erythematosus (SLE) may contribute to the d... more Identification of the genetic basis of systemic lupus erythematosus (SLE) may contribute to the discovery of effective drugs before renal involvement. Our aim of this study was to estimate the association between Fc gamma receptor (FcγR) polymorphisms and SLE and renal involvement in Egyptian patients. FcγRIIB and FcγRIIA R131H gene polymorphisms were genotyped in 180 Egyptian adults. Genotyping for FcγRIIA R131H was performed using allele-specific PCR and FcγRIIB-Ile232 Thr polymorphism was genotyped using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). The study showed that the homozygous genotype (Thr/Thr) of FcγRIIB significantly increased in all SLE patients (90 patients) and in SLE patients complicated with nephritis (61 patients). The Thr allele was significantly associated with an increased risk of the disease in all the patients and in patients complicated with nephritis. Our study demonstrated an association of FcγRIIB polymorphisms with SLE and lupus nephritis and a lack of association of FcγRIIA polymorphisms with SLE in the Egyptian patients.

Research paper thumbnail of Methylation status and protein expression of RASSF1A in breast cancer patients

Molecular Biology Reports, 2013

Recently genetics and epigenetics alterations have been found to be characteristic of malignancy ... more Recently genetics and epigenetics alterations have been found to be characteristic of malignancy and hence can be used as targets for detection of neoplasia. RAS association domain family protein 1A (RASSF1A) gene hypermethylation has been a subject of interest in recent researches on cancer breast patients. The aim of the present study was to evaluate whether RASSF1A methylation status and RASSF1A protein expression are associated with the major clinico-pathological parameters. One hundred and twenty breast cancer Egyptian patients and 100-control subjects diagnosed with benign lesions of the breast were enrolled in this study. We evaluated RASSF1A methylation status in tissue and serum samples using Methyl specific PCR together with RASSF1A protein expression in tissues by immunohistochemistry. Results were studied in relation to known prognostic clinicopathological features in breast cancer. Frequency of RASSF1A methylation in tissues and serum were 70 and 63.3 % respectively and RASSF1A protein expression showed frequency of 46.7 %. There was an association between RASSF1A methylation in tissues, serum and loss of protein expression in tissues with invasive carcinoma, advanced stage breast cancer, L.N. metastasis, ER/PR and HER2 negativity. RASSF1A methylation in serum showed high degree of concordance with methylation in tissues (Kappa = 0.851, P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). RASSF1A hypermethylation in tissues and serum and its protein expression may be a valid, reliable and sensitive tool for detection and follow up of breast cancer patients.

Research paper thumbnail of Vitamin D status and vitamin D receptor gene polymorphisms and susceptibility to type 1 diabetes in Egyptian children

Gene, 2014

Objectives: To investigate if vitamin D receptor (VDR) gene polymorphisms and circulating vitamin... more Objectives: To investigate if vitamin D receptor (VDR) gene polymorphisms and circulating vitamin D levels are associated with pelvic floor disorders (PFDs). Methods: In this case-control study, 25-hydroxy-vitamin D (25[OH]D) serum levels were analyzed in 47 females with PFDs and 87 healthy females (controls), respectively. The VDR gene polymorphisms were determined by using polymerase chain reaction and performing digestions with 4 restriction enzymes i.e., ApaI, TaqI, FokI, and BsmI. Vitamin D levels of patients were divided into <20 ng/mL, 20 to 30 ng/mL, and ≥30 ng/mL categories. Results: Our correlative analysis of VDR polymorphisms as a function of the presence of PFD showed that ApaI and BsmI polymorphisms were significantly associated with PFD in vitamin-D-deficiency and insufficiency groups (P < 0.05). Mean vitamin D levels did not differ between the PFD case (13.01 ± 0.84 ng/mL) and control (15.11 ± 1.04 ng/mL) groups (P > 0.05). However, there was a significant difference in the distribution of vitamin D levels between study group and controls using Pearson's x 2 test (<20 ng/mL, 20-30 ng/mL, and >30 ng/mL: 87.2%, 12.8%, and 0% in the study group and 75.9%, 16.1%, and 8.0% in controls, respectively, P < 0.05). Taken together, our observations suggest that vitamin D levels could be associated with PFDs and that 2 polymorphisms (i.e., ApaI and BsmI) in the VDR gene may contribute to an increased prevalence of PFDs in women with insufficient levels of vitamin D. Conclusions: Examining vitamin D levels and performing a VDR genotype analysis may be helpful for assessing PFD risk.

Research paper thumbnail of Cytokines genes polymorphisms in chronic hepatitis C: Impact on susceptibility to infection and response to therapy

Cytokine, 2013

Background: Cytokines play a key role in the regulation of immune responses. In hepatitis C virus... more Background: Cytokines play a key role in the regulation of immune responses. In hepatitis C virus infection, the production of abnormal cytokine levels appears to contribute in the progression of the disease, viral persistence, and affects response to therapy. Cytokine genes polymorphisms located within the coding/regulatory regions have been shown to affect the overall expression and secretion of cytokines. The aim of the study was to evaluate the association of of IL28B rs12979860, TGF-b1-509, TNF-a 308, and IL-10-1082 polymorphisms with the susceptibility to hepatitis C virus genotype 4 infection and response to pegylated interferon-a and ribavirin therapy. Methods: IL28B, TGF-b1 and TNF-a genes polymorphisms were genotyped using polymerase chain reaction (PCR)-based restriction fragment length polymorphism assay while IL-10 gene polymorphism was detected by sequence specific primer-PCR in 220 healthy individuals and 440 hepatitis C infected patients (220 sustained virological response and 220 non-responder to combination therapy). Results: IL28 B CT and TT, TGF-b1 CT and TT and TNF-a AG and AA genotypes were significantly associated with susceptibility to hepatitis C infection and response to therapy. While no association was found between IL-10 gene polymorphism and susceptibility to HCV infection and response to treatment. Conclusions: These results suggested that inheritance of IL28B CT and TT, TGF-b1 CT and TT and TNF-a AG and AA genotypes which appear to affect the cytokine production may be associated with susceptibility to HCV infection and resistance to combined antiviral therapy.