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15. Perinatal Dönem Otopsilerinde Üriner Sistem Malformasyonları ve Eşlik Eden Ekstrarenal Anomaliler

Author

ERTEKİN, Ömer and AKÇÖREN, Zuhal

Subjects
Medicine, perinatal dönem otopsileri, üriner sistem anomalisi, ekstrarenal anomaliler, Tıp
Abstract

Amaç: Çocuklarda gelişimsel ve genetik böbrek anomalileri perinatal/neonatal dönemdeki mortalite sebeplerinin başında gelmektedir. Bu anomalilere hastanın prognozunu etkileyen çok fazla ekstrarenal konjenital bozukluk da eşlik etmektedir. Bu çalışmanın amacı, perinatal dönem otopsilerinde konjenital üriner sistem malformasyonlarının sıklığını, antenatal dönemdeki ultrason bulgularıyla postmortem bulguların arasındaki korelasyonu, üriner sistem anomalisi olan olguların kromozom analiz sonuçlarını, gelişimsel ve genetik genitoüriner sistem patolojilerinin tipleri ve eşlik eden konjenital malformasyonları değerlendirmektir. Materyal ve Metot: Ocak 2000-Aralık 2012 tarihleri arasında Hacettepe Üniversitesi Tıp Fakültesi Pediatrik Patoloji Ünitesi’nde yapılan postmortem inceleme verileri retrospektif olarak değerlendirildi. Bulgular: 1412 perinatal dönem otopsisi arasından 113 (%8,0) üriner sistem patolojisi olan olgu saptandı. Bunlar da gelişimsel (89 olgu, %6,3) ve renal genetik (24 olgu, %1,7) anomaliler olarak gruplandı. Olguların en küçüğü 13 haftalık fetus, en büyüğü ise 20 günlük yenidoğan bebekti. Böbrek agenezisi en fazla bulunan gelişimsel renal anomaliydi. Genetik üriner sistem patolojileri grubunda en sık otozomal resesif polikistik böbrek hastalığı saptandı. Gelişimselve herediter/genetik böbrek anomalisi olan olguların hemen hemen hepsinde (108/113= %95,5) en az bir veya daha fazla böbrek dışı patoloji olduğu saptandı. Genitoüriner sistem anomalileri %52,2 oranla en çok birliktelik gösteren patolojilerdi. Daha sonra %38,9 ile kas ve iskelet sistemi anomalileri, %34,5 ile solunum sistemi anomalileri, %27,6 ile merkezi sinir sistemi anomalileri, %26,5 ile gastrointestinal sistem anomalileri ve %11,5 ile dolaşım sistemi anomalileri yer almaktaydı. Olguların 58’inde (%51,3) antenatal ultrason bulgularının otopsi bulgularıyla uyumlu olduğu görüldü. Kromozom anormalisi dokuz olguda (%8) saptandı. Bunlar böbrek agenezisi, displastik böbrek ve atnalı böbrek ile ilişkiliydi. Sonuç: Çalışmamızda incelenen olguların %95,5’inde birliktelik gösteren konjenital malformasyonlar tespit edilmiştir. Prenatal dönemde üriner sistem anomalisi saptanarak termine edilen vakalarda ayrıntılı otopsi incelemesinin ve kromozomal değerlendirmeninyapılması ailelere genetik danışma verilmesi için faydalı olacaktır

Published
2019

25. Bilateral wilms tumors: treatment results from a single center

Author

Aydın, Burça, primary, Akyüz, Canan, additional, Yalçın, Bilgehan, additional, Ekinci, Saniye, additional, Oğuz, Berna, additional, Akçören, Zuhal, additional, Yıldız, Ferah, additional, Varan, Ali, additional, Kurucu, Nilgün, additional, Büyükpamukçu, Münevver, additional, and Kutluk, Tezer, additional

Published
2019
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26. Perinatal Dönem Otopsilerinde Üriner Sistem Malformasyonları ve Eşlik Eden Ekstrarenal Anomaliler.

Author

Ertekin, Ömer and Akçören, Zuhal

Subjects
*AUTOSOMAL recessive polycystic kidney, *HUMAN abnormalities, *PEDIATRICS, *GASTROINTESTINAL system, *AUTOPSY
Abstract

Aim: Pediatric developmental and genetic renal anomalies are a known cause of mortality in the perinatal/neonatal period. These anomalies are associated with a wide range of extrarenal congenital malformations that influence the outcome of patients. This study aims to analyze the prevalence of congenital urinary system anomalies, the correlation between antenatal ultrasound findings and postmortem autopsy findings, chromosomal test results, the spectrum of developmental and genetic renal lesions, and associated congenital malformations. Material and Method: We reviewed the perinatal autopsies performed at Hacettepe University Faculty of Medicine Pediatric Pathology Unit, from January 2000 to December 2012 retrospectively. Results: 1412 perinatal autopsies were evaluated, and 113 cases (8.0%) with urinary system anomalies were found. These 113 cases were grouped as developmental (89 cases, 6.3%) and renal genetic anomalies (24 cases, 1.7%). The age range was from 13 weeks of gestation to 1 month of life. Renal agenesis was the most frequent developmental renal anomaly. Autosomal recessive polycystic kidney disease was the most frequent genetic lesion. At least one or more extrarenal anomalies were observed in cases with developmental and hereditary/genetic urinary malformations (108/113=95.5%). Malformations of the lower urinary tract and genital tract were the most common anomalies with a rate of 52.2%. This was followed by musculoskeletal malformations by 38.9%, respiratory system malformations by 34.5%, central nervous system malformations by 27.6%, gastrointestinal system malformations by 26.5%, and cardiovascular system malformations by 11.5%. We detected a good correlation between the antenatal ultrasound and autopsy results in 58 cases (51.3%). Chromosomal abnormality was found in 9 of the cases (8%). They were associated with renal agen- esis, renal dysplasia, and horseshoe kidney. Conclusion: Associated congenital malformations were seen in 95.5% of the cases. In terminated cases, prenatally diagnosed as urinary system anomaly, detailed autopsy, and chromosomal evaluation will be useful for genetic counseling to families. [ABSTRACT FROM AUTHOR]

Published
2020
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31. Primary Paraspinal and Spinal Epidural Non-Hodgkin Lymphoma in Childhood

Author

Kurucu, Nilgün, Akyüz, Canan, Varan, Ali, Akçören, Zuhal, Aydin, Burça, Yalçin, Bilgehan, and Kutluk, Tezer

Abstract

Primary paraspinal/spinal epidural lymphoma (PPSEL) is rare in childhood. Here, we retrospectively evaluated patients with PPSEL treated in our department. We also reviewed the cases reported in the literature. Fifteen of 1354 non-Hodgkin lymphoma cases diagnosed over a 38-year period were PPSEPL. There were 11 male individuals and 4 female individuals with a median age of 13 years. Most common symptoms were pain and limb weakness. Physical examination revealed spinal cord compression in 80% of patients. The most common tumor location was the lumbar region. Histopathologic subtypes were lymphoblastic lymphoma in 6 and Burkitt lymphoma in 5 patients. Subtotal or near-total excision of the tumor with laminectomy was performed in 6 patients. Thirteen and 9 patients received chemotherapy and radiotherapy, respectively. Neurological recovery was observed in 70% of patients. Seven patients were alive without disease at a median of 88 months. Overall and event-free survival rates were 61.7% and 50.1%, respectively. We reviewed clinical features, treatment, and outcome of 69 PPSEL cases reported in the literature. Neurological recovery and long-term survival was achieved in 66.7% of them. Heterogeneity in diagnostic methods and treatment have made it difficult to establish the prognostic indicators for neurological outcome and survival. Multicenter prospective studies with more cases are necessary to determine the prognostic factors.

Published
2024
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37. Leigh Syndrome in a 3-Year-Old Boy with Unusual Brain MR Imaging and Pathologic Findings

Author

Topçu, Meral, Saatci, Isil, Apak, R. Anil, Söylemezoglu, Figen, and Akçören, Zuhal

Subjects
Male, congenital, hereditary, and neonatal diseases and abnormalities, Child, Preschool, Humans, Leigh Disease, Pediatrics, Magnetic Resonance Imaging
Abstract

Summary: We report unusual MR serial imaging and electron microscopy findings in a 3-year-old boy who had Leigh syndrome with cytochrome-c oxidase (cox) deficiency. The MR imaging findings included periventricular white matter involvement, posteroanterior progression, and extension through the corpus callosum and internal capsule; however, no basal ganglia or brain stem abnormality was found, which was suggestive of leukodystrophy. The most noteworthy findings were the cystic foci with contrast enhancement in the affected white matter.

Published
2000

40. Merkel Cell Carcinoma in a Child

Author

Köksal, Yavuz, primary, Toy, Hatice, additional, Talim, Beril, additional, Unal, Ekrem, additional, Akçören, Zuhal, additional, and Cengiz, Mustafa, additional

Published
2009
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47. Placental findings of IUGR and non-IUGR.

Author

İskender-Mazman, Duygu, Akçören, Zuhal, Yiğit, Şule, Kale, Gülsev, Korkmaz, Ayşe, Yurdakök, Murat, and Durukan, Tekin

Abstract

This study aims to define the placental findings in intrauterine growth restriction (IUGR). The study group consisted of 40 neonates without IUGR and 24 neonates with IUGR, including their placentas. The cases were separated into three groups according to gestational age. Group A (n=21): 37 ≤ weeks, Group B (n=27): 32 ≤ - <37 weeks, Group C (n=16): < 32 weeks. Each group had two subgroups, IUGR and non-IUGR. The placentas from the non-IUGR subgroup were heavier than the IUGR subgroup placentas in the term group (p<0.05). Infarct (over 5%), increased syncytial knots and histiocytic intervillositis were more common in the IUGR cases (p<0.05). This study shows that chronic patterns of injury are significantly increased in placentas from pregnancies complicated by IUGR. If the injury in the placenta is acute or mild, fetal adaptation can compensate and prevent fetal growth restriction. [ABSTRACT FROM AUTHOR]

Published
2014

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