Hypermethylation of tumor suppressor genes in gastric cancer: associations with demographic and clinicopathological characteristics

Background: Gastric cancer (GC) is one of the most common cancers worldwide. Despite the declining prevalence in Western countries, it is still a major health problem in Turkey and Asian countries. In the current study, we investigated the hypermethylation status of 25 TSGs in GC. Furthermore, the association between hypermethylation status of these TSGs and some demographic and clinicopathological characteristics were investigated.Methods: Formalin-fixed paraffin-embedded tissue samples obtained from 27 patients with GC and genomic DNA isolated from these tissues. To compare the methylation status of 25 TSGs, methylation-specific multiplex ligation-dependent probe amplification (MS–MLPA) technique was used. Results were evaluated in terms of age, gender, positive lymph node status, lymphovascular invasion, perineural invasion, mortality and five-years of survival, retrospectively.Results: Tumor suppressor gene hypermethylation was detected 16 (59.3%) of 27 GC tissues. Patients with hypermethylation-detected and patients with no hypermethylation-detected in their TSGs were classified as group 1 and group 2, respectively. The mean age of group 1 was 66.38±7.43 and the mean age of group 2 was found as 58.18±11.12 (p= 0.03). Hypermethylation was detected in 12 of 25 TSGs in patients with GC. Hypermethylation was detected as 51.8% for WT1, 40.7% for ESR1, 18.5% for CDH13, 14.8% for MSH6 and CD44, 7.4% for TP73 and PAX5 genes in the tumor tissues of patients with GC. Mean positive lymph node number was 8.81±5.38 in group 1 and 4.81±3.21 in group 2 (p= 0.037). Lymphovascular invasion, perineural invasion, mortality and five-years of mean survival were not statistically different between group 1 and group 2 (p>0.05 for all comparisons).Conclusions: Hypermethylation frequency of certain tumor suppressor genes may increase with advancing age and with positive lymph nodes in gastric cancer patients.

A Rare Tumour of the Breast: Carcinosarcoma

Carcinosarcoma of the breast, also known as metaplastic carcinoma, is rare with very few cases reported in the literature. A 46-year old female patient presented with a mass in her left breast. Physical examination, ultrasonography and mammography findings were consistent with malignancy. The mass was totally removed. Histopathological examination revealed carcinosarcoma of the breast. Histologic grade of the tumour was III. Ki67 proliferation index was found 40% positive. Tumour cells were positive for p53 (70% positive), c-erb-B2 (5% positive), pancytokeratin and EMA in carcinomatous areas, and vimentin in sarcomatous areas. There was no metastasis in axillary lymph node and distant metastasis. The patient is receiving chemotherapy and is under follow-up in the 54th month. Along with a review of the literature, we present the information regarding the clinical and histological findings and treatment of the patient who was operated due to breast carcinosarcoma

Dental Findings in Cornelia De Lange Syndrome

Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the symptoms of the Hutchinson's syndrome, which had never been reported before

Down sendromunda sitogenetik incelemeler ve anne-baba yaşı ile ilişkiler (57 olgu)

Bu tezin, veri tabanı üzerinden yayınlanma izni bulunmamaktadır. Yayınlanma izni olmayan tezlerin basılı kopyalarına Üniversite kütüphaneniz aracılığıyla (TÜBESS üzerinden) erişebilirsiniz.ÖZET Mart 1978 ve Haziran 1979 yılları arasmcui Çocuk Sağlığı ve Hastalıkları Kliniği ve Tıbbî Genetik Enstitümüze başvuran 57 Down olgusundan 50f sinde Tripsin-Giemsa G~bandlama yöntemi, ile sitogenetik inceleme yapılmış ve değişik sayıda hastalarda klinik çalışmalar yürü tülmüştür. Hastalarımızda elde edilen klinik bulgular klasik bilgi lere genellikle uygunluk göstermiştir. Çalışmamızda Down sendromlu çocuğun doğumunda anne ve baba yaş ortalamalarının ve annelerin evlenme yaşlan, orsalamasının normal kontrollerden yüksek bulunmasına karşıt annelerin rvm.arş yaş larının normal kontrollerden farklı olmadığı gösterilmiştir, ü'akat baba yaşı anneye ikincil olduğu için jewn sendromlu çocuğun etiyolo- 3 isinde sorumlu tutulmamıştır. 16 hastamızda kalça radyografisi çekilmiş ve sonuçların Down sendromuna özgü olduğu saptanmıştır. Sitogenetik incelemede 50 Down sendromu olgusunun peri- ferik kan lenf o 3i t kültürleri yapılmış ve Tripsin-Giemsa G-bandlama yöntemi ile 49 olguda klasik Down sendromu (47, XX, +21 yada 47»XYf+21), 1 olguda sporadik D/G translokasycnu (46fX"Y, t(l4r;21 ) gösterilmiş- tir. 37

The importance of background correction during calculation of the major salivary gland function in salivary gland scintigraphy

Objective: The aim of this study was to compare the parotid (P) and submandibular (SM) glands uptake and excretion ratios of 99mTc-pertechnetate, which were calculated by using the backgrounds drawn on five different areas. Methods: Ninety-eight P and 98 SM glands of totally 48 patients were included in the study. 99mTc-pertechnetate salivary gland scintigraphy was performed in all patients. Oral stimulation with lemon juice was made at 15th minute of the imaging. The 99mTc-pertechnetate uptake and excretion ratios of the P and SM glands were calculated separately without using any background, and by using the backgrounds drawn on wide frontal, narrow frontal, temporal, cervical and shoulder regions. These values were statistically compared with each other in pairwise manner. Results: The radioactivity uptake and excretion ratios of the P and SM glands calculated without using any background correction were statistically different from that calculated by using any background correction. In addition, the radioactivity uptake and excretion ratios of the P and SM glands calculated by using the backgrounds drawn on five different areas were mostly found statistically different from each other (p<0.05). Conclusion: Background correction is important during the calculation of the uptake and excretion ratios of P and SM glands. This study demonstrates that calculated uptake and excretion ratios of P and SM glands may differ according to the used background area

The Effect of IVIG on Superoxide Generation in Primary Humoral Immunodeficiencies

WOS: 000215591800002Primary antibody deficiency (common variable immunodeficiency, Hyper IgM, X-linked agammaglobulinemia and selective Ig A deficiency) is a group of heterogeneous diseases characterized by defective antibody production. In primary hypogammaglobulinemias, particularly in patients with common variable immunodeficiency there is an increased generation of reactive oxygen species from monocytes which may be important for both immunopathogenesis and clinical manifestations. The generation of toxic oxygen metabolites may contribute to inflammation and tissue damage associated with phagocytic infiltration, and play role in the pathogenesis of malignancies, autoimmune disorders, acute and chronic pulmonary diseases seen in these patients. In primary immunodeficiencies and functional antibody deficiencies, IVIG act as replacement therapy and several mechanisms of IVIG action have been postulated. In vitro studies with human granulocytes showed stimulation of respiratory burst and promotion of bacterial killing by IVIG. In adult patients with primary humoral immunodeficiency, treated with IVIG showed that IVIG does not affect superoxide generation. We investigated superoxide generation from PMNL in 35 children with hyper IgM syndrome, XLA, CVID and IgA deficiency and 13 healthy children. We also explored the effect of IVIG administration on superoxide generation from granulocytes, white cell count, absolute neutrophil count, absolute lymphocyte count and quantitative CRP levels. There was a substantial increase in superoxide generation from PMNL in patients with XLA, CVID and IgA deficiency. Comparison of the superoxide generation before, 24 hours and one week after IVIG treatment showed no difference. In patients with CVID, quantitative CRP levels before and 24 hours after IVIG revealed significant difference. Other parameters were not changed. It can be concluded that enhanced superoxide generation in patients with XLA, CVID, Ig A deficiency may result from silent activation of the phagocytic system which does not give clinical symptoms; and administration of IVIG in vivo (within the serum concentrations) has no impact on superoxide generation of granulocytes in patients with primary antibody deficiencies

Diagnostic Performance of Contrast-enhanced Mammography: Comparison With MRI and Mammography

Objective: To compare the diagnostic performance of contrast-enhanced mammography (CEM) with MRI and mammography (MG) based on histopathological results. Methods: In this IRB-approved study, written informed consent was obtained from all patients. Images from 40 patients (62 lesions) with suspicious findings on US between March 2018 and August 2018 were evaluated. Sensitivity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of CEM, MRI, and MG were evaluated and compared within a 95% confidence interval. Maximum dimensions of lesions were measured and correlations of results were evaluated with Spearman's Rho test. Results: In the histopathological analysis, 66% (41/62) of lesions were malignant and 34% (21/62) of lesions were benign. Contrast-enhanced mammography, MRI, and MG had sensitivities of 100% (41/41), 100% (41/41), and 80% (33/41), respectively. The sensitivity of CEM and MRI was significantly better than that of MG (P=0.03). The NPVs of CEM (100%, 7/7) and MRI (100%, 14/14) were statistically higher than the NPV of MG (60%, 12/20) (P=0.03). The false-positive rates for CEM, MRI, and MG were 33% (7/21), 66% (14/21), and 42% (9/21), respectively. Contrast-enhanced mammography had a significantly lower false-positive rate than MRI (P0.001). Mammography had the highest false-negative rate, missing 19% (8/41) of malignant lesions. Conclusion: Contrast-enhanced mammography has similar performance characteristics to MRI and improved performance characteristics relative to MG. In particular, CEM and MRI have similar sensitivity and NPVs and both are superior in each of these metrics to MG