Browsing by Author "Trifunović, Jovanka (33467976000)"

Background. Promoter hypermethylation of the SMAD4 gene has been registered in some cancer types, but in general doesn’t appear to be a frequent event in carcinogenesis. However, only a few published studies deal with this topic and not many cancer types have been analyzed. The aim of this study was to establish SMAD4 gene promoter methylation status in pancreatic and endometrial cancers. Methods. Patients included in the study (62 subjects) were diagnosed and surgically treated at the University of Belgrade, Clinical Center of Serbia. Patients with pancreatic carcinoma (17 subjects) underwent surgical removal of the pancreatic adenocarcinoma at the First Surgical Clinic, while the patients with endometrial carcinoma (45 subjects) underwent hysterectomy with adnexectomy at the Institute for Gynecology and Obstetrics. Extraction of DNA from fresh tissue samples was performed and the methylation status of the SMAD4 gene promoter was studied by a previously designed PCR-based HpaII and MspI restriction enzyme assay. The resulting PCR products were analyzed by electrophoresis in 2% agarose gels. Results. Neither of the analyzed samples was found to be hypermethylated. Conclusion. This is the first report on SMAD4 methylation status in pancreatic and endometrial tumor specimens, and supports the viewpoint that SMAD4 hypermethylation is not a common event in malignant tumors. Nevertheless, promoter hypermethylation remains a candidate mechanism for SMAD4 inactivation in malignant tissue as a potential cause of decreased or lost SMAD4 expression in certain tumor types, and should be further investigated in different tumor types and larger cohorts of patients. © 2018, Institute of Oncology Sremska Kamenica. All rights reserved.

Introduction Autosomal recessive polycystic kidney disease is the most common heritable cystic renal disease occurring in infancy and childhood. The clinical spectrum of signs and symptoms of this disease is widely variable ranging from perinatal death to a milder progressive form, which cannot be diagnosed until adolescence. Case Outline A female neonate born in the 35th/36th week of gestation. The findings of all standard medical examinations of the neonate done by the mother were within normal limits. A few days before delivery physicians at a regional medical centre revealed enlarged kidneys and oligohydramnios. The delivery was performed by caesarean section. The vital functions of the newborn were in critical condition so that she was referred to the University Children's Hospital in Belgrade. Soon after admission, despite all undertaken measures, the infant died. Autopsy was done at the Institute of Pathology of the Belgrade Clinical Centre. All findings were typical for autosomal reces sive polycystic kidney disease. The kidneys were hugely enlarged, with cystically dilated collecting ducts that almost completely replaced the renal parenchyma. The lungs were mildly hypoplastic. The liver showed dilated portal spaces, with multiple irregularly branching bile ducts. The cause of death was respiratory distress and renal failure. Conclusion In all cases of congenital anomalies of the kidney with lethal ending it is necessary to perform autopsy and aimed genetic investigation.