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Öğe Effect of Grape Seed Extract on ß-Catenin Gene Expression and Hyperglycemia in Rats Induced by Streptozotocin(Selçuk Üniversitesi, 2023 Haziran) Arslan, Emine; Arikoglu, Hilal; Mutlu, Elif GulbahceAmaç: Tip 2 Diabetes Mellitus, insülin direnci ve/veya insülin eksikliği veya yetersizliği durumunda yüksek kan şekeri ile karakterize metabolik bir hastalıktır. Wnt/?-katenin sinyal yolu, tüm fizyolojik süreçlerde rol oynar. Yoldaki herhangi bir kusur diyabetin gelişmesine neden olur. Bu çalışmanın amacı, deneysel Tip 2 diyabetik sıçanlarda üzüm çekirdeği ekstresinin (GSE) vücut ağırlığı, kan şekeri ve ?-katenin geni ekspresyonu üzerindeki etkisini belirlemektir. Gereç ve Yöntem: Sıçanlar Kontrol, Diyabetik Kontrol ve Tedavi grupları (100, 200, 400 mg/kg GSE) olmak üzere beş gruba ayrıldı. Diyabet ve tedavi gruplarındaki ratlara yüksek yağlı diyet ve düşük doz streptozotosin (35 mg/ kg) verildi. Deney süresince sıçanların vücut ağırlıkları haftalık olarak kaydedildi. Suda çözünen ekstraktlar dört hafta boyunca gavaj yoluyla uygulandı ve çalışmada tedavi sonunda hayvanlardan alınan karaciğer, pankreas ve kan örnekleri kullanıldı. Bulgular: GSE tedavisinin diyabete bağlı genel kilo kaybı üzerine etkisinin minimal olduğu, 100 ve 400 mg/kg GSE dozlarının kan şekerini düşürdüğü gözlendi (p<0,05). ?-katenin gen ekspresyonu sonuçlarına göre karaciğer dokusu (p>0,05) ve pankreas dokusu (p<0,05) açısından gruplar arasında istatistiksel olarak anlamlı fark yoktu. Öneri: Elde edilen bulgulara göre üzüm çekirdeği diyabetin tedavisinde umut verici olabilir.Öğe Konya bölgesi popülasyonunda CAPN10 genindeki SNP-43 polimorfizmi Tip 2 Diabetes riski ile ilişkilidir(Selçuk Üniversitesi, 2021) Turhan, Ahmet Bülent; Gönen, Mustafa Sait; Uçaryılmaz, Hülya; Kaya, Dudu Erkoç; Arıkoğlu, HilalAmaç: Kalpain-10 (CAPN10), Ca+2 bağımlı intrasellüler sistein proteazlar ailesinin atipik bir üyesidir. Birçok dokuda eksprese edilir ve başta insülin sekresyonu ve aktivitesi olmak üzere çok çeşitli hücresel fonksiyonlar için gereklidir. Tanımlanan ilk Tip 2 diyabet (T2D) yatkınlık genidir. Çalışmamızda bir Türk popülasyonunda CAPN10 gen polimorfizmleri (SNP-44, -43 ve -137) ile artmış T2D riski arasındaki ilişkinin analiz edilmesi amaçlandı. Gereç ve Yöntem: Çalışmaya 149 T2D’li hasta ve 48 sağlıklı birey dahil edildi. Genotiplendirme PCR-SSCP tekniği kullanılarak yapıldı, dizi analizi ile doğrulandı. CAPN10 genotiopleri ile T2D gelişimi ve klinik özellikler arasındaki ilişki istatistiksel olarak analiz edildi. Bulgular: Hastalıkla genotip arasındaki ilişkiyi belirlemek için yapılan odds analizi sonuçlarına göre; SNP-44 ile hastalık arasında ilişki gözlenmezken (OR: 1.417 CI:0.452-4.436, P=0.740), SNP-43 ile hastalık arasında anlamlı ilişki bulundu (OR: 0.455 CI:0.235-0.881, P=0.028). SNP-137 genotip dağılımı tüm hasta ve kontrol bireylerde C/C olarak tespit edildi. Taranan SNP’ler ile klinik parametreler arasında herhangi bir ilişki bulunmadı (P>0.05).Öğe PPARG genindeki Pro12Ala polimorfizmi, Türk populasyonunda insülin direnci ve tip 2 diyabet ile ilişkili değildir: Bir vaka-kontrol çalışması(Selçuk Üniversitesi, 2021) İşçioğlu, Funda; İpekçi, Süleyman Hilmi; Baldane, Süleyman; Kaya, Dudu Erkoç; Arıkoğlu, HilalAmaç: Tip 2 diyabet (T2D), diyabetin en sık görülen türüdür ve tüm dünyada olduğu gibi ülkemizde de ciddi bir halk sağlığı sorunu haline gelmiştir. İnsülin sekresyonunun azalması ve/veya insülin direnci (IR) gelişimi, T2D patogenezinde yer alan iki ana bozukluktur. Kromozom 3p25’te yer alan peroksizom proliferatör aktive reseptör gama (PPARG) geni tarafından kodlanan ve esas olarak adipositlerde eksprese edilen PPARG2, glikoz ve lipid metabolizmasının düzenlenmesinde yer alan çok sayıda anahtar geni düzenler. Fonksiyonel önemi dolayısıyla, T2D gelişimi ile ilişkisi ilk rapor edilen aday gen PPARG2 (Pro12Ala varyantı)’dir. Çalışmamızda, PPARG genindeki Pro12Ala’nın IR gelişimi ve T2D riski üzerine etkilerini Konya bölgesinde yaşayan 387 (181 non-obez/ 206 obez) T2D ve 264 (137 non-obez/127 obez) sağlıklı birey olmak üzere toplam 650 kişide değerlendirmeyi amaçladık. Yöntem: Bireylerden alınan kan örneklerinden, T2D ilişkili biyokimyasal parametreler analiz edildi ve sonrasında HOMA-IR (HOMA indeksi) hesaplandı. HOMA-IR indeksi 2.5’ten yüksek olan kişiler insüline dirençli olarak kabul edildi. İzole edilen DNA örneklerinde, Pro12Ala genotiplendirmesi RT-PCR tekniği ile yapıldı. İstatistiksel analiz için SPSS18.0 programı kullanıldı. P<0.05 istatistiksel olarak anlamlı kabul edildi. Bulgular: Obez hasta grubu dışında diğer hasta ve kontrol grupları Hardy-Weinberg dengesinde değildi (p<0.05). Dominant, resesif ve additif modeller kurularak yapılan ilişkilendirme analizine göre Pro12Ala polimorfizminin T2D riski ve ilişkili biyokimyasal parametreler üzerine bir etkisi bulunmadı (p>0.05). Sonuç: Hastalığın poligenik doğası ve çevresel faktörlerin karmaşıklığı, genlerin T2D patogenezindeki etkisinin anlaşılmasını zorlaştırmaktadır. Bu nedenle, PPARG’nin hastalığın genetik zeminindeki olası rolünü ortaya çıkarmak için daha büyük popülasyonlarda daha fazla çalışmaya ihtiyaç vardır. Çalışma Türk toplumunda PPARG ve T2D ilişkisi bakımından sunulan ilk rapordur.Öğe Evaluation of Hematologic Parameters in Children with Down Syndrome(Selçuk Üniversitesi, 2022) Özdemir, Hülya; Artaç, HasibeObjective: Congenital hematological disorders are frequently observed in patients with Down syndrome (DS). In this study, we aimed to investigate peripheral blood-derived inflammation biomarkers such as neutrophil-lymphocyte ratio, platelet-lymphocyte ratio, and eosinophilmonocyte ratio in patients with Down syndrome. Material and Methods: Ninety-eight patients with karyotypically ascertained DS and 103 healthy controls were included. All subjects were divided into three age groups: 0-2 years (34 patients, 34 controls), 2-6 years (32 patients, 33 controls), and >6 years (32 patients, 36 controls). Demographic, clinical, and laboratory data of patients with DS who were admitted between June 2010 and December 2021 were reviewed from the file records from the pediatric allergy and immunology department. Results: Lymphocyte, eosinophil, and eosinophil-monocyte ratio were found to be significantly lower in children with DS compared to controls in group 2 (2-6 years) and group 3 (>6 years). Platelet-lymphocyte ratio was found to be higher in children with DS in group 2 and group 3. There was no statistically significant difference between DS and controls in group 1 (<2 years) in terms of all parameters. In group 2 (2-6 years) and group 3 (>6 years), there was a statistically significant difference between DS and controls in terms of lymphocyte, eosinophil, platelet-lymphocyte ratio, and eosinophilmonocyte ratio variables (P>0.05). Conclusion: We found significant differences among lymphocyte, eosinophil, platelet-lymphocyte ratio, and eosinophil-monocyte ratio in patients with DS. As a result, these parameters should be evaluated carefully for clinical outcomes.Öğe Linkage Analysis of Hereditary Spherocytosis in Four Generations of a Family with SPTB Gene Deficiency(Akad Doktorlar Yayınevi, 2012) Taşdemir, Pelin; Demirel, S. SennurHereditary Spherocytosis (HS) is an inherited hemolytic anemia caused by the defects on membrane proteins and characterized by icterus, anemia and splenomegaly. Hereditary Spherocytosis clinically and genetically comprises a heterogeneous group of hemolytic anemias. In about 75% of the cases, the inheritance follows an autosomal dominant pattern and about 25% of cases occur sporadically. The aim of this study was to find which gene was responsible for the autosomal dominant HS in a large family of four generations. The linkage to the major HS genes (including SPTA1, SPTB, ANK1 ve SLC4A1) was searched by using LINKAGE and MERLIN analysis and LOD-score statistical calculations. As a result of using these analyses, we confirmed that the HS in this family was an autosomal dominant form of the disease and the incidence was linked to the SPTB gene which maps to chromosome 14. Linkage analysis is an effective prescreening method in genetically heterogeneous diseases and a new mutation analysis study is in the planning stage to detect the mutation in the SPTB gene.Öğe Association Between the T-593A and C6982T Polymorphisms of the Osteopontin Gene and Risk of Developing Nephrolithiasis(Elsevier Science Inc, 2010) Göğebakan, Bülent; İğci, Yusuf Ziya; Arslan, Ahmet; İğci, Mehri; Erturhan, Sakip; Öztuzcu, Serdar; Şen, Haluk; Demiryürek, Seniz; Arıkoğlu, Hilal; Cengiz, Beyhan; Bayraktar, Recep; Yurtseven, Cihanser; Sarıca, Kemal; Demiryürek, Abdullah T.Background and Aims. Increased synthesis of several urinary proteins including osteopontin (OPN) has been shown to be associated with stone formation within the urinary tract. The objective of this study was to analyze the genotype distributions and allele frequencies for OPN gene promoter T-593A and C6982T (in exon 7) polymorphisms among patients with kidney stones. Methods. In this case-control study, the study group consisted of 121 patients with radiologically confirmed nephrolithiasis. Genomic DNA from patients and control cases (n = 100) was analyzed by single-strand conformation polymorphism method and nucleotide sequence analysis. Results. Homozygous carriers of the T-593T genotype were more frequent, but carriers of the A-593A genotype were less frequent in patients than in controls. There was also an increase in -593T allele (88% in patients vs. 79% in controls) and decrease in -593A allele frequencies (21% in control vs. 12% in patients) in the nephrolithiasis groups (p = 0.013). The carriers of C6982C genotype were less frequent, but marked increases in T6982T genotype (25.6% in patients vs. 7% in controls, p = 0.001) and 6982T allele frequency (53.3% in patients vs. 37.5% in controls, p = 0.001) were noted in patients of Turkish ancestry. Conclusions. These results are the first to demonstrate the existence of T-593A promoter polymorphism of the OPN gene and significant association with risk of developing nephrolithiasis. Our results showed marked associations between polymorphisms (C6982T and T-593A) of the OPN gene and the stone-forming phenotypes in the Turkish population.Öğe Kolorektal Kanserli Hastalarda Sitokrom P450 (CYP2C9 ve CYP2C19) Genetik Polimorfizm Sıklığı(2009) Büyükdoğan, Murat; Boruban, M. Cem; Artaç, Mehmet; Demirel, SennurÖzellikle gelişmiş ülkelerin önemli sağlık sorunlarından biri olan kolorektal kanserler, genetik ve çevresel faktörlerin katkılarıyla gelişen multifaktöriyel bir hastalıktır. Bu vaka kontrol çalışmasında kolorektal karsinoma ile CYP2C2 alt gurubunun bir üyesi olan endojen ve eksojen maddelerin karsinojenlerin ve ilaçların metabolizmasında önemli rol alan CYP2C9 ve CYP2C19 gen polimorfizmini ve aynı zamanda sigara, alkol, ailede kanser hikayesi, asbestoz maruziyeti gibi risk faktörlerini araştırdık. Çalışmaya ailesinde kanser hikayesi olmayan 85 sağlıklı gönüllü ile Meram Tıp Fakültesi Tıbbi Onkoloji ve Genel Cerrahi kliniklerine başvuran klinik ve histopatolojik olarak çoğunluğu adenokarsinom olan kolorektal kanserli 85 hasta alındı. CYP2C9 ve CYP2C19 genlerinin heterozigot ve mutant genotiplerini belirlemek için CYP2C9*2, CYP2C9*3 ve CYP2C19*2, CYP2C19*3 mutasyon saptama kitleri Light Cycler Real Time Polymerase Chain Reaction ile kullanıldı. Sonuçlar vaka ve kontrol guruplarında istatistiksel olarak karşılaştırıldı ve hesaplanan odds oranları kullanıldı. Kolorektal karsinomdaki risk faktörleri ve CYP2C9*2, CYP2C9*3 ve CYP2C19*2, CYP2C19*3 genlerinin polimorfik genotip sıklıklarının araştırıldığı bu vaka kontrol çalışmasında; kolorektal kanserli hastalar ve kontrol gurubu arasında anlamlı fark saptanamadı. (p > 0.05). Kolorektal kanserli hastalarda beyaz toprağa maruz kalanların oranı anlamlı oranda (p < 0.05) yüksek bulundu ve beyaz toprağın kolorektal kanser için bir risk faktörü olabileceği düşünüldü.Öğe Extremely Skewed X-Chromosome Inactivation Patterns in Women With Recurrent Spontaneous Abortion(Blackwell Publishing, 2006) Bağışlar, Sevgi; Üstüner, Işık; Cengiz, Bora; Söylemez, Feride; Akyerli, Cemaliye Boylu; Ceylaner, Serdar; Ceylaner, Gülay; Acar, Aynur; Özçelik, TayfunBackground: The role of extremely skewed X-chromosome inactivation (XCI) has been questioned in the pathogenesis of recurrent spontaneous abortion (RSA) but the results obtained were conflicting. Aims: We therefore investigated the XCI patterns in peripheral blood DNA obtained from 80 patients who had RSA and 160 age-matched controls. Methods: Pregnancy history, age, karyotype, and disease information was collected from all subjects. The methylation status of a highly polymorphic cytosine-adenine-guanine repeat in the androgen-receptor (AR) gene was determined by use of methylation-sensitive restriction enzyme HpaII and polymerase chain reaction. Results: Skewed XCI (> 85% skewing) was observed in 13 of the 62 patients informative for the AR polymorphism (20.9%), and eight of the 124 informative controls (6.4%) (P = 0.0069; chi(2) test). More importantly, extremely skewed XCI, defined as > 90% inactivation of one allele, was present in 11 (17.7%) patients, and in only two controls (P = 0.0002; chi(2) test). Conclusions: These results support the interpretation that disturbances in XCI mosaicism may be involved in the pathogenesis of RSA.Öğe Reliability and Efficiency of Interphase-Fish With Alpha-satellite Probe for Detection of Aneuploidy(MEDECINE ET HYGIENE, 2002) Acar, H.; Yıldırım, M. S.; Kaynak, M.Reliability and efficiency of interphase-FISH with a-satellite probe for detection of aneuploidy: Early diagnosis is very important in pre- and postnatal diagnosis of Down syndrome. This study examines the use of fluorescence in situ hybridization (FISH) to detect trisomy 21 in interphase nuclei and metaphase chromosome obtained from fifty-four Down syndrome patients with a regular type trisomy 21. Three of them showed six hybridization signals on both interphase nuclei and metaphase spreads instead of five signals corresponding to two chromosomes 13 and three chromosomes 21 although they were cytogenctically trisomy 21. Simultaneous application of probe combination revealed that one of the extra signals of chromosomes 13/21 a-satellite probe was located on chromosome 22 in two cases and one extra signal on chromosomes 15 in one case, In addition, another case showed four hybridization signals on both interphase nuclei and metaphase spreads instead of five signals, indicating deletion of the chromosome specific a-satellite DNA sequence of chromosome 13/21. These centromeric sequence changes may have pathological significance in the appearance of aneuploidy because they may be involved in the important centromere function.Öğe Evaluation of Segregation Patterns of 21;21 Robertsonian Translocation Along With Sex Chromosomes and Interchromosomal Effects in Sperm Nuclei of Carrier by Fish Technique(Wiley-Liss, 2002) Acar, Hasan; Yıldırım, Mahmut Selman; Çora, Tülin; Ceylaner, SerdarMeiotic segregation patterns of carriers of Robertsonian translocations (RT) are important for assessing the risk of unbalanced forms. We investigated the ratio of sperm with t(21;21) to sperm with nullisomy for chromosome 21; the segregation of the t(21;21) along with sex chromosomes, and also interchromosomal effects on chromosome 10 by using three color fluorescence in situ hybridization (FISH) with telomere specific (Tel 21q) and centromerespecific alpha satellite probes for chromosomes X, Y, and 10. The percentage of cosegregation of t(21;21) with sex chromosomes (49.50%) and without sex chromosomes (46.98%) was not significant. There are no significant differences between the percentages of cosegregation of t(21;21) with chromosome X (23.36%) and with chromosome Y (26.16%). No evidence of an interchromosomal effect on chromosome 10 was detected, the percentage of chromosome 10 aneuploidy being similar to that in controls. In addition, the frequency of diploid sperm nuclei was not significantly higher in the carrier (0.32%) than in the controls (0.44%) (P > 0.05). The sex ratio was similar within the carrier and the controls and between the carrier and the control. Three color-FISH analysis, using different probe combinations, seems a rapid and accurate too[ for direct analysis of meiotic segregation product.Öğe Evaluation of Relationship Between Chromosome 22 and p53 Gene Alterations and the Subtype of Meningiomas by the Interphase-Fish Technique(Wiley-liss, 2002) Yakut, Tahsin; Bekar, Ahmet; Doygun, Muammer; Acar, Hasan; Egeli, Ünal; Oğul, ErhanIn this study, we investigated the relationship between genetic alterations such as chromosome 22 aneuploidy and p53 gene deletion, and the pathological types of meningioma of typical and aggressive forms. Thirty-four meningiomas (23 typical and 11 aggressive) were examined by application of fluorescence in situ hybridization (FISH) with chromosome 22 specific alpha satellite probe and a combination of p53 locus specific and chromosome 17 centromere specific alpha satellite probes, to evaluate the chromosome 22 aneuploidy and gain or loss of p53 gene along with chromosome 17. The results showed that, although chromosome 22 aneuploidy was seen in 7 out of 23 typical (30.4%) and 4 out of 11 aggressive meningiomas (36.3%), no p53 deletion was detected in typical meningiomas, and p53 deletion was detected in 3 out of 11 aggressive meningiomas (1 atypical and 2 malignant), which had recurrence. There were no simultaneous occurrences of p53 gene deletions between typical and aggressive meningiomas. The present findings indicate that the loss of chromosome 22 may be involved with tumorogenesis of typical and aggressive meningiomas, while p53 gene deletions may be involved with malignant progression and recurrence in the aggressive meningiomas.Öğe Dermatoglyphic Findings in Congenital Clubfoot(2000) Turhan, A. Bülent; Atasu, Metin; Paydak, Ferhan; Kutlu, AbdurrahmanThe dermatoglyphics of the hand of 33 male and 17 female, a total of 50 patients with congenital clubfoot deformity (CFD) were compared with those of 250 male and 250 female, a total 500 control cases. The most remarkable dermatoglyphic findings observed in CFD were the decreased frequency of ulnar loops and the increased frequency of whorls on all fingers, the decreased frequency of ulnar loops on the left long finger and ring finger and the right thumb, long finger and little fingers, the increased frequancy of whorls on the left long finger and the right thumb, long finger, ring finger and little fingers, the decreased frequency of palmar IV loops and the increased frequency of ? loops and t triradii and the decreased frequency of plantar Î and V? loops and the increased frequency of the p and p" triradii on the soles.Öğe Sonographically Guided Percutaneous Treatment of Hepatic Hydatid Cysts: Long-Term Results(John Wiley & Sons Inc, 2000) Ödev, Kemal; Paksoy, Yahya; Arslan, Ahmet; Aygün, Erşan; Şahin, Mustafa; Karaköse, Serdar; Baykan, Mahmut; Arıkoğlu, Hilal; Aksoy, FarukPurpose. The purpose of this study was to evaluate the safety and efficacy of sonographically guided percutaneous drainage and irrigation of hepatic hydatid cysts. Methods. Sixty-one patients with 84 hepatic hydatid cysts were treated using the puncture, aspiration, injection, and reaspiration (PAIR) technique under sonographic guidance. Patients with cysts larger than 6 cm in diameter underwent PAIR followed by percutaneous drainage (PAIR-PD). The cysts were sterilized by the injection of 1 of 2 scolicidal agents, 20% hypertonic saline solution (38 patients) or 0.5% silver nitrate (23 patients). All patients underwent follow-up examinations for 1 month-6 years after aspiration. Clinical and radiologic examinations and laboratory analyses were performed every month for the first 6 months and then at 3-month intervals. Results. Serial sonographic examinations revealed a heterogeneous echo pattern in 78 cysts (93%); a progressive decrease in diameter in 76 cysts (90%); calcification of the cyst wall, cystic contents, or both in 10 cysts (12%); and complete disappearance of 1 cyst (1%) in a patient who had been monitored for over 6 years. Five patients developed urticaria, and 6 developed fever. One patient developed a biliary fistula after the first aspiration attempt. Two patients developed infection of the cyst cavity after PAIR-PD and were successfully treated with oral antibiotics. An anaphylactic reaction developed in 2 patients and was successfully treated with antiallergenic medication. No recurrence of hydatid disease after PAIR or PAIR-PD was observed in any patient over the follow-up period of 72months (mean, 26 +/- 27 months). Conclusions. Percutaneous drainage of hydatid cysts is a safe, effective, and reliable treatment. Antiallergenic medication is required before PAIR or PAIR-PD. Both sclerosing agents, hypertonic saline and silver nitrate solutions, gave excellent results.Öğe Prostatic Urethral Duplication – An Unusual Form of Vertical Symmetrical Duplication(KARGER, 1994) Kılınç, Mehmet; Arslan, Ahmet; Arslan, Mehmet; Yılmaz, Kadir; Semerciöz, AtillaUrethral duplication is a rare anomaly that manifests itself in various ways. We present a case with a prostatic urethral duplication without incontinence. To our knowledge this is the first case to be reported and has been discussed within Effmann's classification.
