Browsing by Author "Gülten, Tuna"
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Item 5′ MLL gene deletion in a case with childhood acute lymphoblastic leukemia(Oxford University, 2010-02) Gülten, Tuna; Yakut, Tahsin; Güneş, Adalet Meral; Demirkaya, Metin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 6505944216; 6602802424; 24072843300; 24331130000Myeloid/lymphoid leukemia (MLL) gene rearrangements are high risk cytogenetic characteristics of acute lymphoblastic leukemia (ALL). Translocations of this gene are well defined, and their impact on the patient's prognosis is well known, but deletions of the same region are rare, and little is known about their prognostic significance and the significance of their accompanying translocations. Here we present a case of childhood ALL with a deletion of the 5' region of the MILL gene detected by fluorescence in situ hybridization (FISH) analysis, This result also confirmed the sensitivity and efficiency of FISH analysis.Item 9p delesyon sendromu: Olgu sunumu(Uludağ Üniversitesi, 2013-04-03) Şahintürk, Serdar; Türe, Mehmet; Yakut, Tahsin; Gülten, Tuna; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.9p delesyon sendromu; trigonosefali, orta yüz hipoplazisi, uzun filtrum, hipertelorizm gibi kraniofasial anomalilerle karakterize, nadir görülen ve iyi tanımlanmış bir sendromdur. Bazı olgularda klinik tabloya genital ve/veya gonadal bozukluklar, kardiyak anomaliler, endokrin ve metabolik bozukluklar eşlik edebilmektedir. Klinik tablonun değişkenlik göstermesi, genetik danışma açısından genotip-fenotip ilişkisinin kesinlik kazanmasını gerektirmektedir. Sunulan 14 aylık kız olgunun aile öyküsünde, opere izole sindaktilisi olan bir erkek kardeş dışında özellik bulunmamaktadır. Olguda, sendromun karakteristik kraniofasial dismorfik bulgularına ek olarak atrial septal defekt, patent foramen ovale, patent duktus arteriozus, pulmoner stenoz, sol ventrikül hipertrofisi ve umbilikal herni gibi konjenital anomaliler bulunmaktadır. Konvansiyonel sitogenetik analizle karyotip özelliği 46,XX,del(9)(p22) olarak saptanan olguda sonuç FISH analizi ile konfirme edilmiştir. Literatür bilgilerine göre olgudaki fenotipik özelliklere, delesyona uğrayan bölgede yer alan CER1, FOXD4, FOXP2 ve DOCK8 genlerinin kaybının neden olduğu düşünülmektedir.Publication A novel mutation in the fras1 gene in a patient with fraser syndrome(Medecine Et Hygiene, 2015-01-01) Sağ, S. Özemri; Görukmez, O.; Türe, M.; Şahintürk, S.; Topak, A.; Gülten, T.; Schanze, D.; Yakut, T.; Zenker, M.; ÖZEMRİ SAĞ, ŞEBNEM; Görükmez, Orhan; Türe, Mehmet; ŞAHİNTÜRK, SERDAR; Topak, Ali; Gülten, Tuna; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-9241-0896; AAH-8355-2021; HNQ-2791-2023; ACQ-9887-2022; AFZ-0764-2022; ECY-8582-2022; EYU-9227-2022; GIS-1493-2022A novel mutation in the FRAS1 gene in a patient with Fraser syndrome: Fraser Syndrome (FS) is a rare disease with autosomal recessive inheritance characterized by cryptophthalmus, cutaneous syndactyly, laryngeal and urogenital anomalies. Mutations in the genes FRAS1 and FREM2 encoding components of a protein complex of the extracellular matrix, and recently also mutations in GRIP1 have been found to be causative for FS. We present here molecular and clinical findings of a patient with FS who was found to have a novel homozygous frameshift mutation c.9739delA, p.(T3247Pfs*44) in exon 63 of FRAS1 gene. Further testing confirmed the heterozygous carrier status of parents.Item AML1 amplification and 17q25 deletion in a case of childhood acute lymphoblastic leukemia(Wiley, 2009) Gülten, Tuna; Yakut, Tahsin; Karkucak, Mutlu; Baytan, Birol; Güneş, Adalet Meral; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Hematoloji Anabilim Dalı.; 6505944216; 6602802424; 35388323500; 6506622162; 24072843300We report a case of childhood acute lymphoblastic leukemia (ALL) with both acute myeloid leukemia 1 (AML1) amplification and 17q25 deletion. AML1 gene is located on 21q22 and encodes a transcription factor. AML1 amplification is a common finding in childhood ALL, and itis observed as an increase in gene copy number by the FISH analysis. The mechanism of AML1 amplification is not associated with AML1 gene mutations. The 17q25 is a gene-rich chromosomal location and distinct abnormalities of this region have been observed in previous cases of different kinds of leukemia. Deletion of the 17q25 region has been reported in two leukemia patients. Septin 9 (SEPT9) and survivin genes are located on 17q25. High expression of these genes and AML1 amplification are regarded as markers in tumorigenesis and disease progression; however, more data are needed for accurate prognostic evaluation.Item Analysis of chromosomal aberrations in patients with goiter(Karger, 1999) Gülten, Tuna; Tarım, Ömer; Ercan, İlker; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji ve Genetik Anabilim Dalı.; ABF-2367-2020Item Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient(Univ West Indies Faculty Medical Sciences, 2012-12) Gülten, Tuna; Görükmez, Orhan; Karkucak, Mutlu; Türe, Mehmet; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 6505944216; 56681045900; 35388323500; 6602186133; 6602802424Marker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (le a normal phenotype). This wide spectrum of phenotypes is due to the origin, structure and gene content of the marker chromosome. The first Klinefelter case with sSMC 9 was published by Liehr et al in 2005. The present case was referred for chromosomal analysis because of dysmorphic features, speech delay and mild mental retardation. Conventional cytogenetic analysis revealed the 47 XXY karyotype in 17 metaphases and the 48 XXY + marker karyotype in eight metaphases. Fluorescence in situ hybridization (FISH) analysis to identify the marker chromosome was performed using the LSI p16 (9p21) Spectrum Orange/CEP 9 SpectrumGreen Probe (Vysis CDKN2A/CEP 9 FISH Probe) and partial trisomy 9 mosaicism was confirmed in this patient. To our knowledge, this is the second case of Klinefelter syndrome with a small supernumerary marker chromosome derived from chromosome 9.Publication Association of the ACE I/D Gene Polymorphisms with JAK2V617F-Positive Polycythemia Vera and Essential Thrombocythemia(Mary Ann Liebert, 2015-06-01) Görükmez, Orhan; Sağ, Şebnem Özemri; Görükmez, Özlem; Türe, Mehmet; Topak, Ali; Şahintürk, Serdar; Özkaya, Güven; Gülten, Tuna; Ali, Rıdvan; Yakut, Tahsin; ÖZEMRİ SAĞ, ŞEBNEM; Görükmez, Özlem; Türe, Mehmet; Topak, Ali; ŞAHİNTÜRK, SERDAR; ÖZKAYA, GÜVEN; Gülten, Tuna; ALİ, RIDVAN; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Biyoistatistik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/İç Hastalıkları Anabilim Dalı/Hematoloji Bilim Dalı.; 0000-0002-9241-0896; 0000-0003-0297-846X; IUN-6616-2023; ACQ-9887-2022; AAH-8355-2021; A-4421-2016; HNQ-2791-2023; ECY-8582-2022; EYU-9227-2022; GXD-8209-2022; GIS-1493-2022The renin-angiotensin system contributes to cell growth, proliferation, and differentiation in the bone marrow. We investigated the role of the ACE I/D gene polymorphism in 108 polycythemia vera (PV) and essential thrombocytosis (ET) patients who were positive for the JAK2V617F mutation, with a thrombosis group (TG) of 95 patients who had a history of vascular events, but did not have a history of myeloproliferative neoplasms and compared these to a healthy control group (CG) of 72 subjects. In the patients, II genotype and I allele frequency (p=0.009, odds ratio [OR]=9.716, 95% confidence interval [CI]=1.242-76.00, p=0.004, OR=2.019, 95% CI=1.243-3.280, respectively) were found to be higher than those in the controls. The DD genotype (p=0.021, OR=0.491, 95% CI=0.268-0.899) and D allele (p=0.004, OR=0.495, 95% CI=0.305-0.805) were found to be correlated with a decreased risk of a myeloproliferative neoplasm. These findings support the hypothesis that the ACE II genotype and I allele may be related to increased risk of ET and PV. Conversely, the DD genotype and D allele may be related to decreased risk of ET and PV. The results also indicated that the ACE I/D gene polymorphism was independent of thrombosis formation.Item An azoospermic case with (16)(q22) fragile site(Springer, 2007) Gülten, Tuna; Temel, Sehime; Evke, Elif; Cangül, Hakan; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi.; AAG-8385-2021Item Benzalkonyum klorürün insan lenfositleri üzerindeki genotoksik etkisinin araştırılması(Uludağ Üniversitesi, 2012-01-31) Arıkan, Şener; Gülten, Tuna; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.Bu çalışmada, dezenfektan ve koruyucu özelliğinden dolayı çok yaygın olarak kullanılan benzalkonyum klorürün genotoksik etkisi in vitro mikronükleus testi ile araştırıldı. Çalışmada, herhangi bir genotoksik ajana maruz kalma öyküsü bulunmayan ve sigara kullanmayan sağlıklı erkek gönüllülerden hazırlanan tam kan lenfosit kültürleri kullanıldı. Kültürlere 6 farklı konsantrasyonda (0.04 mg/L, 0.11 mg/L, 0.33 mg/L, 1 mg/L, 3 mg/L ve 9 mg/L) benzalkonyum klorür ilave edilerek mikronükleus oluşumuna etkisi araştırıldı. Deneyler üç sağlıklı gönüllü ile ve her konsantrasyon için ikişer kültür hazırlanarak çalışıldı. Her kültürden 1000 binükleer hücre değerlendirilerek mikronükleus analizi yapıldı. Negatif kontrol kültürlerinden elde edilen sonuçlar ile yapılan karşılaştırma sonucunda, çalışılan konsantrasyonların hiçbirinde mikronükleus değerlerinde anlamlı artış gözlenmedi. Sonuç olarak uygulanan in vitro kültür koşullarında benzalkonyum klorürün anlamlı genotoksik etkisi tespit edilmedi.Item Childhood acute lymphoblastic leukemia with near-tetraplody and t(12; 21) (p13;q22) translocation: A case report(Akad Doktorlar Yayınevi, 2011) Karkucak, Mutlu; Yakut, Tahsin; Baytan, Birol; Gülten, Tuna; Güneş, Adalet Meral; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genel Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Hematoloji Anabilim Dalı.; 35388323500; 6602802424; 6506622162; 6505944216; 24072843300Fluroscent in situ hybridization analysis indicated presence of t(12;21)(p13;q22) translocation and near-tetraploidy in a case who 11-year-old boy and diagnosed with B precursor acute lymphoblastic leukemia (ALL). Although, some studies suggest good prognostic effect of translocation t(12;21) (p13;q22), there were very little data regarding the prognostic effect of Near-tetraploidy. Here we discussed the prognostic relevance of both t(12;21)(p13;q22) translocation and near tetraplody in Pre-B ALL.Item Chronic black tea administration protects plasma proteins, plasma, liver and kidney lipids against oxidation(Int Scientific Information, 2006-03-01) Sürmen-Gür, Esma; Gülten, Tuna; Serdar, Zehra; Çolakoğulları, Mukaddes; Uludağ Üniversitesi/Tıp Fakültesi/Biyokimya Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji ve Genetik Anabilim Dalı.; 0000-0001-7377-9682; 0000-0002-0909-618X; AAG-7327-2021; AAH-6200-2021; 7801407302; 6505944216; 57222002284; 14423975800Background: Black tea is known to have protective effects against plasma lipid and lipoprotein oxidation, but its influence on lipid peroxidation in tissue has been less studied. The effect of oral black tea consumption on protein oxidation has also not been demonstrated. The present study investigated the antioxidant effects of oral black tea consumption. Material/Methods: Male Sprague-Dawley rats were fed a regular murine chow diet. The controls were supplied With water ad libitum, while the black tea group received aqueous black tea extract as the sole source of liquids. At the end of the ten-week experimental period, intestinal brush border, liver and kidney reduced-glutathione concentrations were evaluated as an index of cellular antioxidant defence. Plasma and tissue malondialdehyde concentrations and plasma protein carbonyl content were measured to evaluate lipid peroxidation and protein oxidation, respectively. Results: The plasma malondialclehyde and protein carbonyl contents of rats consuming the black tea were significantly less than in controls. Similarly, liver and kidney malondialdehyde concentrations were significantly lower in the experimental group, while jejunoileal mucosa were not affected. Ten weeks of black tea administration caused significantly higher reduced-glutathione levels in the kidneys of black tea-administered rats, and a significant negative correlation was observed between kidney malondialdehyde and glutathione concentrations. Conclusions: These findings provide evidence that long term black tea supplementation is capable of protecting both plasma proteins and plasma lipids from oxidative injury, and demonstrate that chronic black tea administration protects both liver and kidney tissues - but not the jejunoileal mucosa against oxidation.Item Çocuklukçağı lösemilerindeki genetik değişiklikler ve klinik önemi(Uludağ Üniversitesi, 2005-03-24) Yakut, Tahsin; Gülten, Tuna; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.Kromozomal sayısal düzensizlikler ve translokasyonlar genelde çocukluk çağı lösemilerinin başlangıcındaki olaylardır, yada hastalığın oluşmasını sağlayan ilk olaylardır. Çocukluk çağı lösemilerine özgü spesifik genetik değişiklikler, hastalığın tanısı ve tedaviye yanıtın izlenmesi açısından oldukça önemlidir. Bu genetik değişiklikler aynı zamanda hastalığın prognozu açısından da önemli bir gösterge oluşturmaktadır. Böylece, bu spesifik genetik değişikliklerin tespiti ve sınıflandırılması klinisyenlere hastalığın tanısı, tedavisi, prognozunun takibi ve yeni terapötik yaklaşımların uygulanması açısından yardımcı olacaktır.Item Dyskeratosis congenita: A case report(Medecine et Hygiene, 2016) Görükmez, Özlem; Carrillo, Jaime; Perona, R.; Sağ, Şebnem Özemri; Topak, Ali; Türe, Mehmet; Şahintürk, Serdar; Gülten, Tuna; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-7612-0055; AAH-8355-2021; HOQ-5853-2023; ECY-8582-2022; ACQ-9887-2022; EYU-9227-2022; GIS-1493-2022; 57193738647; 55313334700; 6602186133; 57214054591; 6505944216; 6602802424Item Esophageal muscle cell interaction with biopolymers(International Scientific Literature, 2007-01-30) Korkmaz, Mevlit; Narcı, Adnan; Güvenç, B. Haluk; Yağmurca, Murat; Bilir, Ayhan; Yakut, Tahsin; Gülten, Tuna; Yiğit, Barbaros; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 6602802424; 6505944216; 55400492100Background: The in vitro interactions of esophageal smooth muscle cells (SMCs) with synthetic absorbable polymers were tested and artificial muscle tissues harvested from subcutaneous implantation were examined. Materials/Methods: Esophageal tissue samples from adult and fetal (25-day gestational age) rabbits were cut into small pieces and cultured in Dulbecco's Modified Eagle Medium supplemented with 10% fetal bovine serum. Growing cells were identified as SMCs by immunostaining for anti-actin and anti-myosin antibodies. Equal volumes of agar gel and medium were mixed and used for 3-D culture. 5x10(5) cells and 1 mg polyglycolic acid (PGA) and poly-lactide-co-glycolide acid (PLGA) fibers were seeded in six-well tissue culture plates. On days 2 and 7 growing cells were counted by a hemocytometer and cell-polymer interactions were evaluated with light microscopy. Adult and fetal SMCs were seeded onto the PGA and PLGA scaffolds, cultivated for two weeks, and implanted subcutaneously on the backs of the rabbits. Cell-polymer implants were retrieved after four weeks and muscle formation was evaluated histologically and immunohistochemically. Results: Growing cells stained positive for actin and myosin proteins. Cell-polymer interactions were poor after 24 hours, whereas intensive attachment to the fibers was detected 48 hours following cultivation. Both fiber materials supported cell proliferation. PLGA scaffolds improved muscle formation more efficiently than PGA, and fetal and adult SMCs showed similar mass quality. Conclusions: Scaffolds are important as cell-carrying vehicles, and material-cell interactions should be tested before application. A 3-D culture prepared with agar gel and medium is practical for testing material toxicity.Item Evaluation of the effects of Helicobacter pylori eradication therapy on gastric antral epithelial hyperproliferation:A prospective six-month follow-up study(H G E Update Medical Publishing S A, 2004) Demiray, Mutlu; Gulten, Macit; Manavoğlu, Osman; Evrensel, Türkkan; Ulukaya, Engin; Yerci, Ömer; Kanat, Ozkan; Kurt, Ender; Arslan, Murat; Gönüllü, Güzin; Demiray, Hulya; Gülten, Tuna; Memik, Faruk; Uludağ Üniversitesi/Tıp Fakültesi/İç Hastalıkları Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Patoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Nükleer Tıp Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyokimya Anabilim Dalı.; 0000-0003-2501-3097; 0000-0002-9732-5340; 0000-0003-4875-5472; M-8060-2019; AAJ-1027-2021; K-5792-2018; 6603631569; 6603629209; 6602587152; 6603942124; 6602927353; 6603810549; 55881548500; 7006207332; 57197925370; 6506410014; 57213483995; 6505944216; 6701813462Background/Aims: H. pylori-induced hyperproliferation of the gastric epithelium may have a critical role in gastric carcinogenesis. H. pylori-related hyperproliferation and reversibility of hyperproliferation after eradication therapy is still controversial. Therefore, we have evaluated the effects of H. pylori and its eradication on gastric antral epithelial proliferation. Methodology: A total of 32 H. pylori-positive and 22 H. pylori-negative subjects were enrolled into the study. Triple eradication therapy was given to the H. pylori-positive group. Upper endoscopy was repeated one month after the therapy and six months later, antral biopsy specimens were taken in each endoscopy. Biopsy specimens from H. pylori-negative subject were taken at the beginning of the study and sixth months later also. Results: Proliferative index was 40.2% in H. pylori-positive state; it regressed to 27.6% after eradication and six months later the proliferative index was 30.7%. H. pylori-negative group's proliferative index was 25.5% initially and six months later it was 25.6%. The difference between the H. pylori-positive and negative group was statistically significant (p<0.0001). The difference between H. pylori-positive group's values at the beginning of the study and one month after the eradication was significant (p<0.0001). In addition, the difference between H. pylori-positive group's initial values and those six months after eradication was also significant (p<0.0001). Conclusions: H. pylori increased the gastric epithelial proliferation and after the eradication therapy proliferative index decreased to control values. H. pylori and the related factors inducing gastric antral hyperproliferation may have an important role in H. pylori-related gastric malignancies.Item Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus(Karger, 2007) Jin, Woo Jung; Leipoldt, Michael; Bausch, Elke; Scherer, Gerd; Temel, Şehime Gülsün; Gülten, Tuna; Yakut, Tahsin; Sağlam, Halil; Kılıç, Neslihan; Uludağ Üniversitesi/Tıp Fakültesi/Genetik ve Moleküler Biyoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; 6507885442; 6505944216; 6602802424; 35612700100; 7005266570It is well established that testicular differentiation of the human embryonic gonad depends on the action of the Y-chromosomal gene SRY. However, exceptional cases such as SRY-negative cases of 46,XX testicular disorder of sexual development (DSD), and of 46,XX ovotesticular DSD document that testicular tissue can develop in the absence of the SRY gene. These SRY-negative XX sex reversal cases are very rare and usually sporadic, but a few familial cases have been reported. We present a large, consanguineous family with nine affected individuals with phenotypes ranging from 46, XX testicular DSD to 46, XX ovotesticular DSD, with predominance of male characteristics. Absence of SRY in peripheral blood was documented by fluorescence in situ hybridization (FISH) and PCR analysis in all nine affected individuals, and by FISH analysis on gonadal sections with testicular tissue in four affected individuals. By quantitative PCR, a duplication of the SOX9 gene was excluded. In addition, as linkage analysis showed that the nine affected members of the family do not share a common SOX9 haplotype, any mutation at the SOX9 locus could be ruled out. Together, these findings implicate a mutation at a sex-determining locus other than SRY and SOX9 as the cause for the XX sex reversal trait in this family.Item Familial case of 46 XX male and 46 XX true hermaphrodite in the absence of SRY gene(Springer, 2005) Temel, Sehime; Gülten, Tuna; Yakut, Tahsin; Sağlam, Halil; Kılıç, Nizamettin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Cerrahi Anabilim Dalı.; AAG-8385-2021Item High hyperdiploidic chromosomes in a child with acute lymphoblastic leukemia(Springer, 2007) Karkucak, Mutlu; Yakut, Tahsin; Gülten, Tuna; Baytan, Birol; Cangül, Hakan; Güneş, A. Meral; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; ABI-5648-2022Item Imatinib use during pregnancy and breast feeding: A case report and review of the literature(Springer Heidelberg, 2009-08) Ali, Rıdvan; Özkalemkaş, Fahir; Kimya, Yalçın; Köksal, Nligün; Özkocaman, Vildan; Gülten, Tuna; Yorulmaz, Hakan; Tunalı, Ahmet Semih; Uludağ Üniversitesi/Tıp Fakültesi/ İç Hastalıkları Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Kadın Hastalıkları ve Doğum Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Genetik Anabilim Dalı.; AAH-1854-2021; AAG-8495-2021; AAG-8393-2021; 7201813027; 6601912387; 6603919968; 7003323615; 6603145040; 6505944216; 24438635700; 6602797853The development of imatinib as a therapeutic agent targeting BCR-ABL has increased the treatment options for chronic myeloid leukemia (CML) by significantly impacting outcomes, and imatinib is recommended by treatment guidelines as the first-line therapy. However, treatment of maternal CML with imatinib during gestation is not recommended because of the potential risk to the fetus. We describe the clinical presentation, course and outcome of one pregnant patient with CML who was treated with imatinib. We review all pregnancies associated with imatinib documented in the literature. A 27-year-old pregnant patient was diagnosed to have Philadelphia chromosome positive chronic phase CML in August 2007. Imatinib was administered (400 mg/day) between the 21st and 39th weeks of gestation. The patient tolerated the drug well and achieved complete hematological and cytogenetic remission. There were no imatinib-related maternal complications during the pregnancy. Fetal growth remained normal as well as amniotic fluid volume estimation. Labor was induced at the 39th gestational week, resulting in the uneventful vaginal delivery of a healthy male infant without any congenital anomaly. Umbilical cord blood and infant peripheral blood were collected at delivery. No postnatal complications occurred; however, imatinib was present in the umbilical cord blood (338 ng/mL) and in the infant's peripheral blood (478 ng/mL). Breast milk was collected on different postpartum days, and concentrations of imatinib were detected. At 10 months of age, the baby had normal growth and development. In light of reported cases and our experience, treatment of CML during the second and third trimesters of gestation and breast feeding seems to be safe, but the data are still limited and the effects of chronic exposure of infants to imatinib are not known. We think that each case should be examined and considered independently, and decisions should be individualized.Item Investigation of ABCB1 gene polymorphism with colchicine response in Behçet's disease(Funpec-Editora, 2011) Sarıcaoğlu, Hayriye; Yılmaz, Mediha; Karkucak, Mutlu; Öztürk, Hülya Z.Y.; Yakut, Tahsin; Gülten, Tuna; Bülbül, Emel Başkan; Aydoğan, Kenan; Dilek, Kamil; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Dermatoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Romatoloji Anabilim Dalı.; 0000-0002-0144-3263; AAH-1388-2021; 6603722836; 35148700000; 35388323500; 57197115377; 6602802424; 6505944216; 6602518817; 9739755800; 56005080200Colchicine is commonly used in the treatment of Behcet's disease. However, some patients are unresponsive to colchicine treatment. Adenosine triphosphate-binding cassette subfamily B member 1 (ABCB1) transports colchicine out of cells. We investigated a possible association of C3435T polymorphism of the ABCB1 (MDR1) gene with colchicine response in patients with Behcet's disease. We randomly selected 97 patients with Behcet's disease, examined ABCB1 (MDR1) gene C3435T polymorphisms, and evaluated patient responses to colchicine. Forty-three patients were colchicine responsive, while the remaining 54 patients were unresponsive. No significant difference was found between genotypic and allelic frequencies of the ABCB1 C3435T polymorphisms in patients with Behcet's disease and healthy volunteers. Also, there was no significant difference among responsive and nonresponsive patients. We concluded that ABCB1 C3435T polymorphism is not associated with a colchicine response in patients with Behcet's disease.
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