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Search Results: 1 - 10 of 10 matches for " Afig Berdeli "
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Complement-4 Deficiency in a Child with Systemic Lupus Erythematosus Presenting with Standard Treatment-Resistant Severe Skin Lesion
Betul Sozeri,Sevgi Mir,Afig Berdeli
ISRN Rheumatology , 2011, DOI: 10.5402/2011/917673
Abstract:
Insulin receptor substrate gene polymorphisms are associated with metabolic syndrome but not with its components  [PDF]
Fulden Sarac, Afig Berdeli, Sefa Sarac, Sumru Savas, Merve Atan, Fehmi Akcicek
Journal of Diabetes Mellitus (JDM) , 2013, DOI: 10.4236/jdm.2013.34033
Abstract:

Aim: Metabolic syndrome (MetS) is a major risk factor for both diabetes mellitus and cardiovascular disease (CVD). The aims of the study were 1) to investigate the insulin receptor substrate-1 (IRS-1) and insulin receptor substrate-2 (IRS-2) gene polymorphisms in patients with MetS and 2) to examine the relationships between gene polymorphisms and components of MetS. Patients & Methods: The study population included 100 patients with MetS and 30 patients without MetS as control group. Metabolic syndrome (MS) was defined as in ATP III. Entire coding exons of IRS-1 and IRS-2 genes were amplified by polymerase chain reaction (PCR). Insulin resistance (IR) was estimated using the homeostasis model assessment (HOMA). Results: In patients with MetS, 34 (34%), had G972R (rs1801278) gene polymorphism and 66 (66%) had no nucleotide substitutions at the IRS-1 gene (p < 0.0001). As for the IRS-2 gene, 18.0% of the patients were heterozygous and 11.0% were homozygous for the G1057D mutation, 2.0% were heterozygous for the P1031P and P1033PG1057 mutations, 17.0% were heterozygous for P1033P, 3.0% were homozygous for P1033P and 5% were heterozygous for the G 1067D and P1033P mutations in patients with MetS (p = 0.0001). However, none of the control subjects had nucleotide substitutions in the IRS-1 and IRS-2 genes. There were no correlations between IRS-1/IRS-2 gene polymorphisms and metabolic syndrome components such as waist circumference, blood pressure, triglyceride, HDL-Cholesterol, LDL-Cholesterol and HOMA-IR levels. Conclusion: Insulin receptor substrate-1 and 2 gene polymorphisms were associated with metabolic syndrome but not its components.

Novel mutat?ons and diverse clinical phenotypes in recomb?nase-activating gene 1 deficiency
Necil Kutukculer, Nesrin Gulez, Neslihan Karaca, Guzide Aksu, Afig Berdeli
Italian Journal of Pediatrics , 2012, DOI: 10.1186/1824-7288-38-8
Abstract: The aim of this study was to review clinical, immunological and molecular findings of Turkish SCID patients with RAG1 defects and to draw attention to novel mutations, genotype-phenotype correlations and the high rate of BCG infections within this group.Eleven patients (F/M: 6/5) were included. Molecular, immunological and clinical data were evaluated.Five patients were classified as T-B-NK + SCID, four patients as T + B-NK + SCID (two of these patients were diagnosed as classical Omenn syndrome) and two patients as T + B + NK + SCID with respect to clinical presentations and immunological data. Mean age of the whole study group, mean age at onset of symptoms and mean age at diagnosis were: 33.0 ± 42.8, 3.1 ± 3.3 and 10.4 ± 13.5 months, respectively. Consanguinity rate was 54%. Some novel mutations were found in RAG1 gene in addition to previously reported mutations. Genotype-phenotype correlation was not significantly apparent in most of the cases. BCG infection was observed in 36.4% of patients (two BCG-osis and two BCG-itis).Epigenetic factors such as compound genetic defects, enviromental factors, and exposure to recurrent infections may modify phenotypical characteristics of RAG deficiencies. Inoculation of live vaccines such as BCG should be postponed until primary immunodeficiency disease is excluded with appropriate screening tests in suspected cases.Severe combined immunodeficiency (SCID) syndromes embrace common phenotypic presentation of a range of genetic disorders [1]. According to recent immunological and genetic findings, SCID can be subdivided into 11 conditions. These conditions are abnormally increased apoptosis of the lymphocytes (reticular dysgenesis caused by adenylate kinase 2 (AK2), adenosine-deaminase-deficiency), defects of cytokine signaling (X-linked SCID, IL7-receptor-α, JAK3- deficiency), defects in T-cell-receptor (TCR) assembly and signaling (RAG1/2, DNAPKcs, Artemis and Cernunnos, CD3 defects) and general T-cell signaling defects asso
Association of FAS -670A/G and FASL –843C/T Gene Polymorphisms on Allograft Nephropathy in Pediatric Renal Transplant Patients
Pelin Ertan,Sevgi Mir,Nese Ozkayin,Afig Berdeli
Iranian Journal of Pediatrics , 2010,
Abstract: Objective: FAS and FASL polymorphisms are suggested to play an important role in tubulitis that is a major component of acute rejection. The aim of this study was to investigate the role of FAS-670A/G and FASL-843C/T gene polymorphisms on allograft nephropathy in pediatric renal transplant patients Methods: Fifty three patients (22 males 31 females) aged 2 to 20 years (mean 12.3±0.6) who had renal transplantation and fifty healthy control subjects (25 males 25 females) were enrolled in the study. Pearsons Chi Square test was used for the statistical analysis. Survival rates were estimated with the Kaplan Meier method. Age, sex, chronic renal failure etiology, treatment modality and duration and donor type were recorded. FAS-670A/G and FASL-843C/T gene polymorphisms were compared between renal transplant patients and normal healthy population as well as between renal transplant patients with and without acute rejection. Findings: FAS-670A/G genotypes or alleles were not significantly different between control and transplant patients and among transplant patients with and without acute rejection (P>0.05 for all). FASL-843C/T genotypes and alleles were not different between transplantation and control groups (P>0.05 for all). However, FASL-843C/T alleles were significantly different between patients with and without AR (P=0.02). The percentages of C allele were higher in children with acute rejection (68.8% vs 44.6%). Conclusion: FASL gene polymorphisms may play a major role in acute rejection while FAS polymorphisms have not been found to be different between patients with and without acute renal graft rejection.
SPP1 Gene Polymorphisms Associated With Nephrolithiasis in Turkish Pediatric Patients
Gokhan Tekin,Pelin Ertan,Gonul Horasan,Afig Berdeli
Urology Journal , 2012,
Abstract: Purpose: To investigate the association between SPP1 gene polymorphisms and nephrolithiasis.Materials and Methods: A total of 65 pediatric patients and 50 healthy controls were enrolled in this study. Two known polymorphisms of the SPP1 gene, c.240T > C and c.708C > T nucleotide substitutions, both of which were also known as synonymous aminoacid polymorphisms, D80D and A236A, respectively, at SPP1 gene cDNA level were investigated. SPP1 gene polymorphism was evaluated using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism method.Results: In c.240T > C polymorphism, C allele frequency [Odds Ratio (OR), 2.13; 95% Confidence Interval (CI), 1.170 to 3.880; P = .013] and CC genotype distribution (OR, 2.946; 95% CI, 0.832 to 10.431; P = .094) and in c.708C > T polymorphism, T allele frequency (OR, 2.183; 95% CI, 1.197 to 3.980; P = .011) and TT genotype distribution (OR, 3.056; 95% CI, 0.861 to 10.839; P = .084) were found to be higher in the patient group.Conclusion: SPP1 polymorphisms were found to be associated with nephrolithiasis and it may be suggested that SPP1 gene polymorphism could be a useful marker for evaluation of the early genetic risk factor in childhood nephrolithiasis.
X-Linked Agammaglobulinemia Presenting with Secondary Hemophagocytic Syndrome: A Case Report
Can Ozturk,Sumer Sutcuoglu,Berna Atabay,Afig Berdeli
Case Reports in Medicine , 2013, DOI: 10.1155/2013/742795
Abstract:
X-Linked Lymphoproliferative Syndrome and Common Variable Immunodeficiency May Not Be Differentiated by SH2D1A and XIAP/BIRC4 Genes Sequence Analysis
Nesrin Gulez,Guzide Aksu,Afig Berdeli,Neslihan Karaca,Sema Tanr verdi,Necil Kutukculer,Elif Azarsiz
Case Reports in Medicine , 2011, DOI: 10.1155/2011/121258
Abstract: The X-linked lymphoproliferative syndrome (XLP) is a rare, inherited immunodeficiency characterized by recurrent episodes of hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, and/or lymphomas. Recently, X-linked inhibitor of apoptosis (XIAP/BIRC4) gene defects, in families with XLP but without SH2D1A gene defects, has been defined. The distinction from primary immunodeficiencies with a defined genetic cause is mandatory. A six-year-old male patient was admitted with the complaints of persistent general lymphadenopathy, for two years had fever, bilateral cervical multiple microlymphadenopathy, hepatic/splenic enlargement with laboratory findings as decreased serum immunoglobulins, negative EBV VCA IgM (viral capsid antigen) and anti-EBV EA (antibody to early D antigen), positive EBV VCA IgG (viral capsid antigen) and EBV EBNA (antibody to nuclear antigen). SH2D1A gene analysis was negative. XIAP/BIRC4 sequencing revealed two novel single nucleotide variants (exon 7, 1978G > A, and 1996T > A) in the 3′UTR of the gene in both patient and mother which were not disease causing. XIAP protein expression was found to be normal. The clinical and laboratory resemblance, no gene mutations, and normal XIAP protein expression led us to think that there may be another responsible gene for XLP. The patient will to be followed up as CVID until he presents new diagnostic signs or until the identification of a new gene.
The progesterone receptor PROGINS polymorphism is not related to oxidative stress factors in women with polycystic ovary syndrome
Muammer Karadeniz, Mehmet Erdogan, Afig Berdeli, Sadik Tamsel, Fusun Saygili, Candeger Yilmaz
Cardiovascular Diabetology , 2007, DOI: 10.1186/1475-2840-6-29
Abstract: Ninety-five young women with PCOS and 99 healthy control women were included in our study. All subjects underwent venous blood drawing for complete hormonal assays, lipid profile, glucose, insulin and PROGINS polymorphism genetic study.In PROGINS polymorphism results; in both control and the patient groups T1/T1 has been detected in high levels. But for genotype (p = 0.178) and allele (p = 0.555) frequencies both of the groups give similar results. Statistically significant difference has been detected on serum FSH levels for T1/T1 genotype according to T2/T2 genotype.No relation has been detected between the inflammatory and oxidative stress factors, and PROGINS polymorphism alleles. This may be because the PCOS patients are young and their BMI means are normal and their CIMT and oxidative stress markers are like healthy women.Polycystic ovary syndrome (PCOS) is one of the most encountered endocrine malfunctions, which typically occur with chronic anovulation and hyperandrogenism [1]. Almost 15% of the women at reproductive period complain about PCOS [2]. Women with PCOS have been reported to be at increased risk of a number of gynaecological neoplasias, including endometrial, breast, and ovarian cancer [3]. The reproductive abnormalities in PCOS include chronic anovulation, prolonged exposure to oestrogen, progesterone deficiency, and androgen excess, which may contribute to an increased risk for gynaecological cancers in which the hormonal milieu is an important contributor to aetiology and prognosis.Oxidative damage has been implicated in the pathogenesis of many chronic progressive diseases, such as cancer, inflammation, and neurodegenerative disorders. Emerging risk factors such as oxidative stress, inflammation and endothelial cell activation are thought to play integral roles in the development of atherosclerotic lesions and cancer [4,5].In women with PCOS who are anovulatory or oligo-ovulatory, the regulatory roles of progesterone and progesterone withdrawa
Perilipin Gene Polymorphism and Diabetes Risk in Obese Women
Zeliha Fulden Sarac,Afig Berdeli,Cande?er Y?lmaz,Merve Atan
Turkish Journal of Endocrinology and Metabolism , 2012,
Abstract: Purpose: The aim of the study was to investigate the relationship between perilipin gene polymorphisms and diabetes mellitus (DM) type 2 in obese women. Material and Method: The study population included 21 obese women with type 2 DM, 10 obese women without diabetes. All the coding exons of PLIN gene were amplified by polymerase chain reaction (PCR). Insulin resistance was estimated using the homeostasis model assessment (HOMA). Results: In obese with type 2 DM, 20 (95.3%) patients were homozygous and 1 (4.7%) was heterozygous for the c.580C>.G (p.Pro194Ala) (rs.6496589) mutations at exon 5 (p= 1.00). As for exon 8, 8 (38.0%) were heterozygous for the c.1113T>C (Pro371Pro) (rs2304796) mutation, and 4 (19.0%) were heterozygous for the c.1113T>C and c.1119C>T (p.Val373Val) (rs2304795) mutations, 6 (28.5%) were homozygous for the c.1113T>C and c.1119C>T mutations and 1 (4.8%) were homozygous for the c.1113T>C mutation (p=0.20). In diabetic obese group, mean levels of HOMA-IR in patients with heterozygous for the c.580C>G mutation at exon 5 and patients with heterozygous for the c.1113T>C and c.1119C>T mutation and patiens with heterozygous for the c.1113T>C mutation at exon 8 were found to be 3.8±1.8 and 4.3±1.7 and 3.5±1.0, respectively. Discussion: There are no evidences related to perilipin gene polymorphisms such as homozygous for the c.580C>G mutation at exon 5, homozygous for the c.1113T>C and c.1119C>T mutation, and heterozygous for the c.1113T>C at exon 8 associated with diabetes in obese women. Turk Jem 2012; 16: 58-63
Fas/FasL promoter gene polymorphism in patients with rheumatoid arthritis
?. Kobak,A. Berdeli
Reumatismo , 2012, DOI: 10.4081/reumatismo.2012.374
Abstract: Objectives. Fas/FasL is significantly involved in the pathogenesis of rheumatoid arthritis (RA). Fas/FasL gene polymorphism may be associated with susceptibility to rheumatoid arthritis and disease severity. Aim. To investigate the Fas 670 G/A and FasL 843 C/T genotype and allele frequency in patients with RA, and determine its potential association with susceptibility to the disease and the clinical parameters. Methods. One hundred and one patients with RA and 105 healthy control subjects were enrolled in the study. Fas 670 A/G and FasL 843C/T genotype polymorphism was investigated by PCR-RFLP. Chi-square test was used for determining the genotype distribution and the allele incidence. Results. There was no statistically significant difference between the patients with RA and the healthy subjects with respect to Fas-670 A/G and FasL-843C/T genotype distribution and allele frequency (P>0.05). While there was no statistically significant difference in disease severity and various clinical parameters, a correlation was detected between Fas-670 polymorphism and anti-CCP antibody and anemia (P<0.01 and P<0.03, respectively). Conclusions. Fas-670A/G and FasL-843C/T promoter gene polymorphisms are not considered to represent a major genetic risk factor for RA susceptibility and disease severity. However, based on these results, Fas-670 promoter polymorphism may modulate anti-CCP antibody synthesis and response in patients with rheumatoid arthritis.
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