Papers by Necat Imirzalioglu
Archives of Andrology, 2006
Hasta, yapilan “triple test“ sonrasinda artmis trizomi 21 riski nedeniyle Gazi Universitesi Tip F... more Hasta, yapilan “triple test“ sonrasinda artmis trizomi 21 riski nedeniyle Gazi Universitesi Tip Fakultesi, Tibbi Genetik Anabilim Dali'na amniosentez yapilmak uzere refere edildi. Birinci kuzen akraba evliligi olan ciftin reproduktif oykulerinde, 3 kez ilk trimestir abortus oykusu bulunmaktaydi. Hastanin amnion kulturu sonrasinda, fetuste distal trizomi 10q saptandi; 46,XX,der(9)t(9;10)(p24;q25)mat. Aileye daha saglikli bir genetik danisma verilebilmesi icin ebeveyn kromozom analizi sonucunda, annenin dengeli translokasyon tasiyicisi [46,XX,der(9)t(9;10)(p24;q25)] oldugu saptandi. Bu olgu, kotu obstetrik oykusu ya da tekrarlayan ilk trimestir dusuk oykusu olan gebelerde prenatal tani uygulamalarinin onem ve degerini gostermektedir
Scandinavian Journal of Rheumatology, 2005
Objective: Behçet's disease (BD) is a rare, chronic, multisystem inflammatory disorder. The preva... more Objective: Behçet's disease (BD) is a rare, chronic, multisystem inflammatory disorder. The prevalence of BD is higher in the Middle Eastern and Mediterranean populations. Another chronic inflammatory disease, familial Mediterranean fever (FMF), is also known to be highly prevalent in these populations. The prevalence of BD is higher in the FMF patient population than in populations known to be rich in BD. Both BD and FMF have some pathophysiological features in common and they result from inappropriate activation of neutrophils. Clinical manifestations of both diseases can mimic each other and the coexistence of both diseases in the same patient has been reported. Given that BD and FMF have similar pathophysiological, epidemiological, and clinical features, we hypothesized that the gene responsible for FMF, MEFV, may also play a role in the pathogenesis of BD. Methods: Forty-two BD patients who had no symptoms and family history for FMF and 66 healthy controls were screened for common MEFV gene mutations (E148Q, M680I, M694V, and V726A). Results: Fifteen patients (36%) displayed MEFV mutations (nine M694V, five E148Q, and one M680I) and mutation rates were significantly elevated compared to 66 (11%) healthy controls (p50.0034). Conclusion: The occurrence of frequent MEFV mutations in BD patients suggests that the MEFV gene is involved in the pathogenesis of Behçet's disease.
Genetic Testing and Molecular Biomarkers, 2009
Cowden syndrome (CS), an autosomal dominant disorder, is associated with germline mutations of th... more Cowden syndrome (CS), an autosomal dominant disorder, is associated with germline mutations of the PTEN (phosphatase, tensin homolog, deleted on chromosome TEN) gene. PTEN mutations were linked to several human neoplasms. Clinical diagnosis has been based on Consortium criteria, but detection of mutations in the PTEN gene has importance in accurate diagnosis. This article presents a female patient with classic features of the syndrome and gives the result of first PTEN mutation analysis result in a Turkish CS patient. The patient, who suffered from trichilemmomas, papillomatous lesions, lipomas, thyroid lesions, gastrointestinal hamartomas, and fibrocystic disease of the breast, is consistent with the diagnostic criteria of CS. The exons and intron/exon boundaries of the PTEN gene were analyzed by polymerase chain reaction and direct sequencing. We analyzed the clinical features and DNA in a Turkish patient with CS. We found a single-nucleotide substitution in the splicing acceptor site of intron 5 of the PTEN gene (IVS5-2A > C). It is not clear whether which types of PTEN mutations are responsible for particular phenotypes. This germline PTEN mutation, IVS5-2A --> C, has been reported once before, but the clinical features differ from our patient. Also, this is the first reported PTEN mutation from Turkey.
Acta reumatológica portuguesa
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, peritonitis, arthritis, pleuritis, and secondary amyloidosis. In the current study, we sought to determine the frequency of acute surgical abdominal intervention and MEFV gene mutations in FMF patients. A total of 159 patients were referred to our department with a diagnosis of FMF. Twenty-six patients (16.4%) had a history of surgical intervention. Of these, 17 (10.7%) were operated on due to appendicitis, and 9 (5.7%) were operated on due to other acute abdomen reasons. Genomic DNA was isolated from the blood samples, and in the isolated DNA samples, 12 MEFV gene mutations were studied. Mutation frequency was detected to be 80.8% in the patients with acute abdomen surgery intervention and 56.4% in the patients without acute abdomen surgical intervention. Upon mutational evaluation of these patients, we noted that the M694V (40.5%) and E148Q (21.4%) mutations occurred most frequen...
Pediatrics International, 2006
Taurine (2-aminoethane sulphonic acid) is normally present in most mammalian tissues and the most... more Taurine (2-aminoethane sulphonic acid) is normally present in most mammalian tissues and the most abundant free amino acid in lymphocytes. It participates in various important physiological activities including modulation of the functioning of the central nervous system, cell proliferation, viability and prevention of oxidant-induced injury in many tissues. Its levels in human milk are very high which may be the most important difference from cow's milk. In contrast, an inverse association between breast-feeding and carcinogenesis in childhood or later in life has been suggested by several studies. The study group consisted of eight healthy infants. Peripheral blood was collected and lymphocytes were cultured with either Taurine or Mitomycin C (MMC). Sister chromatid exchange in lymphocytes of the infants were calculated. Statistical differences were found between untreated and MMC-treated lymphocytes, untreated and MMC plus taurine-treated lymphocytes, and between MMC and MMC plus taurine-treated lymphocytes (P = 0.012). The results indicated that taurine plays a protective role in MMC-induced sister chromatid exchange in human lymphocytes. The authors suggest that the high levels of taurine found in human milk may induce protecting effects from breast-feeding against DNA damage and malignancy.
Pediatrics International, 2004
Benzathine penicillin G (BPG) is a widely used antibiotic for treatment or prophylaxis of certain... more Benzathine penicillin G (BPG) is a widely used antibiotic for treatment or prophylaxis of certain infectious diseases. Previous in vivo studies using sister chromatid exchange (SCE) frequency and comet assay, had showed that long-term administration of benzathine penicillin G may cause some degree of DNA damage in children with rheumatic fever. Because DNA damage has also been reported in various connective tissue disorders, to rule out the possible effects of underlying disease on DNA integrity, 3-day-cultured lymphocytes obtained from nine healthy individuals were exposed to BPG at different concentrations (0.002, 0.02 and 0.1 micro g/mL), and sister chromatid exchange frequencies were studied. The mean SCE frequency per metaphase was calculated from 20 selected cells for each individual. The incidence of SCE frequency did not differ when all groups were compared. Comparing between each concentration group, exposure to BPG did not cause a dose-dependent increase in SCE frequency (Student's t-test, P > 0.05). Insignificant changes (P > 0.05) in SCE, within the 3-day exposure to BPG, may suggest that DNA damage did not occur. Short-term exposure to BPG does not have toxic effects on DNA. In contrast, this preliminary study should be supported by other genotoxicity assays, expanding the exposure time to longer periods, in order to exclude rapid DNA repair mechanisms. and a possible role of underlying disease on DNA integrity should not be ignored.
Acta Cardiologica, 2004
The purpose of our study was to evaluate the significance of polymorphisms in HLA class II genes ... more The purpose of our study was to evaluate the significance of polymorphisms in HLA class II genes in coronary artery ectasia (CAE) patients. Twenty-six patients with CAE without associated cardiac defects were enrolled in the study. CAE was defined as luminal dilation of 1.5- to 2.0-fold of normal limits. Ninety-five healthy subjects who were donors for different organ transplantations, were chosen as control group. Physical examination, electrocardiography and chest X-ray were completely normal in these cases. Both the patients and the control group were screened and compared for their HLA class II genotypes. HLA-DR B1*13, DR16, DQ2 and DQ5 genotypes were significantly more frequent in the patient group. When the known risk factors of coronary heart disease were compared in the patients carrying these genotypes with the non-carrying group, no significant differences were encountered. HLA-DR B1*13, DR16, DQ2 and DQ5 may be associated with the pathogenesis and increase the risk of CAE.
American Journal of Medical Genetics Part A, 2011
We present a 12-year-old girl with de novo karyotype 46,XX,del(12)(p11.1p12.1). Array CGH reveale... more We present a 12-year-old girl with de novo karyotype 46,XX,del(12)(p11.1p12.1). Array CGH revealed in addition to a 10.466 Mb interstitial deletion on 12p11.1→12p12.1 a 0.191 Mb deletion on 2p16.3. The girl presented with mild facial dysmorphism consisting of microcephaly, hypertelorism, downslanting palpebral fissures, strabismus, broad nasal base, bulbous nose, short philtrum, micro/retrognathia, irregular tooth arrangement, phalangeal deformity in distal phalanges of hands, 5th finger camptodactyly, brachydactyly in feet, history of joint hypermobility, and scoliosis. She was considered to have mild to moderate mental retardation and ascertained for an autism spectrum disorder(ASD). Short arm of chromosome 12 interstitial deletions are rarely reported whereas point mutations and deletions of NRXN1, which is located on chromosome 2p16.3, are associated with ASDs. In this article we present and discuss the phenotypic consequences of a patient who was affected by deletions of two different chromosomal regions.
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Papers by Necat Imirzalioglu