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Öğe Cartilaginous hamartoma of the chest wall with secondary aneurysmal cyst-like areas in an infant: A Case Report(1999) Göre O.; Kiliçalp A.; Başdemir G.; Özer E.; Aktug T.A case of a four-month-old Infant diagnosed as cartilaginous hamartoma of the rib Is presented. This rare tumor usually presents at birth. The patient had respiratory distress sypdrome. Swelling of the ribs was palpable on physical examination and the infant underwent surgery for excision of the ribs. Histopathologically, the tumor showed benign focal overgrowth of normal skeletal elements with cartilaginous, vascular and primitive-appearing mesenchymal elements. Additionally, secondary aneurysmal cyst formation coexisted with the tumor. The diagnosis was infantile cartilaginous hamartoma of the rib. In this entity, primitive-appearing mesenchymal stroma may be mistaken for a malignant condition. Usually a benign clinical course Is expected and treatment is by block excision.Öğe Childhood onset limb-girdle muscular dystrophies in the aegean part of Turkey(Pacini Editore S.p.A., 2018) Yiş U.; Diniz G.; Hazan F.; Daimagüler H.S.; Baysal B.T.; Baydan F.; Akinci G.; Ünalp A.; Aktan G.; Bayram E.; Hiz S.; Paketçi C.; Okur D.; Özer E.; Danyeli A.E.; Polat M.; Uyanik G.; Çirak S.The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where SGCG proved to be disease-causing in most of the cases. About half of the patients were diagnosed with whole exome or targeted gene sequencing. A positive correlation between muscle biopsy and genetic findings were observed in 11% of the patients. We report one novel frameshifting mutation in TTN. Knowledge on frequencies of childhood-onset limb-girdle muscular dystrophies and related genes in Turkey will lead to a prompt diagnosis of these neuromuscular disorders. © 2018 Pacini Editore S.p.A. All rights reserved.Öğe The effect of using different starter culture combinations on organic and fatty acid compositions of mihaliç cheese(Akademiai Kiado Rt., 2017) Özer E.; Kesenkaş H.The objective of this study was to assess the influence of three different starter culture combinations and two scalding temperatures on the organic and fatty acid compositions of pasteurized Mihaliç cheeses. For this purpose, starter culture combinations consisting of Propionibacterium freudenreichii, Streptococcus thermophilus, Lactobacillus helveticus, and Leuconostoc mesenteroides subsp. cremoris were used. Two scalding temperatures, 40 °C or 45 °C, were used for cheeses with the same culture combination. Samples were evaluated in terms of organic and fatty acid compositions during 90 days of ripening. Eye formation, which is a characteristic feature of Mihaliç cheese, was seen in all cheese samples. Propionic and lactic acids were the most abundant organic acids detected in the cheeses. The most abundant saturated fatty acid was palmitic acid, followed by myristic and stearic acids. Oleic acid content was the highest among total unsaturated fatty acids. The control cheese had lower levels of short-chain fatty acids, which contribute directly to the cheese flavour. © 2017 Akadémiai Kiadó, Budapest.Öğe The effect of using different starter culture combinations on ripening parameters, microbiological and sensory properties of Mihaliç cheese(Springer, 2019) Özer E.; Kesenkaş H.The aim of this study was to determine the most appropriate culture combination and scalding temperature to provide standardization in the production of Mihaliç cheese. For this purpose, starter culture combinations consisting of Propionibacterium freudenreichii, Streptococcus thermophilus, Lactobacillus helveticus and Leuconostoc mesentroides subsp. cremoris were used. Two scalding temperatures (40 °C and 45 °C) were used for the Mihaliç cheese samples with same culture combinations. This study investigated the composition, acidity, proteolysis, lipolysis, microbial counts and sensory properties of Mihaliç cheese during 90 days of ripening. The lipolysis level was higher for cheese scalded at 40 °C. Eye formation, which is a characteristic feature of Mihaliç cheese, was seen in all cheese samples. The viability of the starters generally decreased significantly during ripening, and starter culture usage did not affect the characteristics of the cheeses adversely, which contrarily resulted in better sensory characteristics and increased ripening indexes in comparison to the control cheese. Especially the starter culture combination including P. freudenreichii, S. thermophilus and L. helveticus resulted in more desirable sensory characteristics. © 2019, Association of Food Scientists & Technologists (India).Öğe Letter to the editor: Primary cardiac rhabdomyosarcoma [2](Wiley-Liss Inc., 2002) Aksoylar S.; Kansoy S.; Bakiler A.R.; Özer E.; Özgenç F.[No abstract available]Öğe Physicochemical and sensory characteristics of winter yoghurt produced from mixtures of cow’s and goat’s milk [İnek ve keçi sütü karışımlarından üretilen kış yoğurtlarının fizikokimyasal ve duyusal karakteristikleri](Ankara University, 2017) Kesenkaş H.; Karagözlü C.; Yerlikaya O.; Özer E.; Akpinar A.; Akbulut N.Winter yoghurt is one of the most popular dairy products in Van and Hatay region of Turkey. It is made of different kinds of milk, and known as “cooked yoghurt” or “salted yoghurt” due to its high solids content and long shelf life. In this study, two different concentration methods were used to produce traditional winter yoghurt. Some physical (firmness and cohesiveness, L-, a- and b- values), chemical (total solid, fat, protein, pH, lactic acid, salt) and sensory analyses (color, odor, consistent and flavor) were made to determine the effect of production methods and storage on winter yoghurt samples at the 1st, 30th, 60th and 90th days. Significant differences were found between sensory, rheological properties and color values of winter yoghurts however no significant differences were found between physicochemical properties of the samples. Especially, winter yoghurts produced from 100% goat milk were the more appreciated samples. © Ankara Üniversitesi Ziraat Fakültesi.Öğe Triosephosphate isomerase deficiency: A patient with Val231Met mutation(2011) Serdaroglu G.; Aydinok Y.; Yilmaz S.; Manco L.; Özer E.Triosephosphate isomerase deficiency constitutes a rare autosomal recessive disorder, characterized by hemolytic anemia, neurodegeneration, and recurrent bacterial infections. It is the most severe glycolytic enzyme defect associated with progressive neurologic dysfunction. Patients with various inherited triosephosphate isomerase deficiency gene mutations were identified. The most frequent is a Glu104Asp mutation, manifested in homozygous and compound heterozygous states. The mutation Val231Met is very rare. We describe a second triosephosphate isomerase-deficient patient homozygous for the Val231Met mutation, with different phenotypic characteristics from the previous case. © 2011 Elsevier Inc. All rights reserved.
