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Öğe Ailesel hiperkolesterolemi(2006) İncecik, Faruk; Sangün, Özlem; Akçalı, Cenk; Güzelmansur, İsmailFamilial hypercholesterolemia is a hereditary disease characterized with the increase of LDL- cholesterol level in plasma as a result of mutational defect of LDL receptor gene. The disease presents in two forms as homozygous and heterozygous. The form which is homozygous has an incidance of 0.2 % in the population. Because the patients have high cholesterol, especially LDL- cholesterol levels which are the major factor that contribute to atherosclerosis, early diagnosis and treatment is very important. We therefore presented two families who have this rarely seen metabolic disorder of lipid metabolism which leads to coronary atherosclerosis, myocardial infarction and death at early ages.Öğe Akciğer gelişimsel anomalili olgularımız(2011) Durgun Yetim, Tülin; Bayaroğulları, Hanifi; Güzelmansur, İsmail; Arıca, Vefik; Şilfeler, İbrahim; Arıca, SeçilBackground: The congenital anomalies of the lung is a rare and non-hereditary group of lung diseases. Some of these anomalies can progress very severely so that they can cause abortus of the fetus. In this present study, we aimed to determine the types of congenital lung diseases (CLD) and investigate their treatment modalities in the paediatric patient group attended to our hospital. Methods: Between 2009 - 2011, the obstetric and other patient groups were evaluated for CLD existence by various imaging techniques. Any kind of CLD diagnosed patients were evaluated retrospectively according to the diagnosis time, technique and treatment modalities. Results: In this 2 year time period, 27 patients were diagnosed with CLD. Thirteen patients diagnosed with ultrasonography solely, 2 patients diagnosed with ultrasonography and magnetic resonance imaging in the prenatal period. Eleven patients diagnosed with computed tomography in the potnatal period. Conclusion: The early diagnosis and treatment of CLD is of most importance because of the fatal progression in the prenatal and postnatal period.Öğe Evaluation of fetal autopsy findings in the Hatay region : 274 cases(2012) Hakverdi, Sibel; Güzelmansur, İsmail; Güngören, Arif; Toprak, Serhat; Yaldız, Mehmet; Hakerdi, Ali UlviObjective: The aim of this study was to present the incidence of fetal anomalies in our region of Hatay, Turkey in order to determine the efficiency of prenatal diagnosis through fetal autopsy, and to compare our statistical data with other national and international studies. Material and Method: This study was conducted on 274 fetuses from terminated pregnancies due to abnormal prenatal findings and intrauterine deaths from 2005 to September 2010. Fetuses were evaluated through postmortem examination, external measurements, X-rays, Magnetic Resonance Images, Multislice Computerized Tomography and photographs. The autopsy was completed by the histological examination of each organ. Results: Autopsy was conducted on 274 fetuses. A fetal anomaly was detected in 160 (58.39%) cases. The central nervous system contained the most frequent structural defects (79 cases, 49.38%), followed by malformations in the musculoskeletal system in 36 cases (22.5%). The most frequent multiple system anomalies were central nervous system defect and bilateral adrenal agenesis, musculoskeletal system malformations and urinary system defects. Fetal autopsy provided additional findings in 43 cases (26.88%). Conclusion: Fetal autopsy is a very important procedure and an integral part of the general prenatal management. New findings through this method may suggest invaluable data for parents about potential risks in future pregnancies.Öğe Fetal MR ürografi ile posterior üretral valvin prenatal tanısı(2012) Güzelmansur, İsmail; Bayaroğulları, Hanifi; Arıca, Vefik; Oyar, OrhanPosterior üretral valv (PÜV) prenatal dönemde, erkek fetüs- lerde en sık izlenen alt üriner sistem obstrüksiyon nedeni- dir. Obstrüksiyona bağlı olarak proksimal üretrada anahtar deliği görünümü, mesanede distansiyon, vezikoüreteral reflüye (VÜR) sekonder, üreterlerde ve pelvikaliksiyel sis- temde dilatasyon izlenir. Obstrüksiyonun derecesi ve süresi böbrekteki hasarı ve prognozu belirler. PÜV prenatal dö- nemdeki teşhisinde, ultrasonografi (US) ilk ve en yaygın kullanılan görüntüleme yöntemidir. Anne ve fetüsten kay- naklanan nedenlerden dolayı manyetik rezonans görüntü- leme (MRG) tamamlayıcı ve yardımcı yöntem olarak tercih edilebilir. Olgumuz MRG’in prenatal PÜV teşhisine katkısını göstermektedir.