Person: CESUR, YAŞAR
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Publication Metadata only ASSOCIATION OF PULMONARY HEMOSIDEROSIS AND CELIAC DISEASE(2011-05-01T00:00:00Z) Dogan, Murat; Bektas, Mehmet Selcuk; Dogan, Sekibe Zehra; Aktar, Fesih; Cesur, Yaşar; CESUR, YAŞARIdiopathic pulmonary hemosiderosis (IPH) is a rare disease of unknown autoimmune etiology mainly affecting children and adolescents. We report the case of an 6-years-old boy with cough and tiredness. There were no gastrointestinal symptoms were not determined. Body weight and height were in normal percentiles. Physical examination revealed cutaneous and mucosal pallor, due to severe anemia (hemoglobin 3 g/dL). Infiltrations were seen at the chest X-rays at both lungs, but markedly at left lung. In sputum examinations, hemosiderin-laden macrophages were seen. The diagnosis of IPH was made. The association of IPH and Celiac disease (CD) is well known. Searching associated CD was performed and then confirmed by biological and histological examinations. A gluten-free diet was initiated. Evolution was favorable. Searching for CD in IPH should be done, even in the absence of gastrointestinal symptoms.Publication Metadata only CONGENITAL HYPOTHYROIDISM WITH ISOLATED FIBULA AGENESIS(2010-05-01T00:00:00Z) Dogan, Murat; Yilmaz, Cahide; Caksen, Hueseyin; Cesur, Yaşar; Akpinar, Fuat; Gueven, Ahmet Sami; CESUR, YAŞARAlthough congenital hypothyroidism is seen often as an isolated case, it can also be seen as a part of some syndromes like Schinzel-Giedion, Aicardi-Goutieres-like, cleidocranial dysplasia and deletion of 18q. It is also well known that congenital hypothyroidism may be associated with other congenital malformations, especially with cardiac heart diseases, skeletal abnormalities, Central nervous system and eye malformations. In this article, 11-years-old-girl with fibula agenesis associated with congenital hypothyroidism because of thyroid gland hypoplasia is presented. In our knowledge, both congenital hypothyroidism and isolated fibula agenesis have not been published before in the literature.Publication Metadata only Evaluation of children with nutritional rickets(2011-03-01T00:00:00Z) Cesur, YAŞAR; Dogan, Murat; ARIYUCA, Sevil; BAŞARANOGLU, Murat; BEKTAS, Mehmet Selcuk; PEKER, Erdal; AKBAYRAM, Sinan; CAKSEN, Huseyin; CESUR, YAŞARAim: To evaluate the clinical findings, risk factors, therapy and outcome in 946 children with nutritional rickets.Publication Metadata only Celiac disease with celiac crisis Çöliak kriz ile seyreden çöliak hastalıǧı(2010-01-01T00:00:00Z) Dogan, Murat; Yuca, Sevil Ari; Acikgöz, Mehmet; Doǧan, Sekibe Zehra; Kaya, Avni; Cesur, Yaşar; CESUR, YAŞARPublication Open Access Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism(2012-01-01T00:00:00Z) KOTAN, LEMAN DAMLA; Mengen, Eda; GÜRBÜZ, FATİH; Berberoglu, Merih; Dokmetas, Sebila; Kilicli, Mehmet Fatih; GUVEN, Ayla; Kirel, Birgul; Saka, Nurcin; Poyrazoglu, Sukran; Cesur, YAŞAR; Dogan, Murat; OZEN, Samim; OZBEK, Mehmet Nuri; DEMIRBILEK, Huseyin; Kekil, M. Burcu; Temiz, Fatih; Mungan, Neslihan Onenli; Yuksel, Bilgin; Topaloglu, Ali Kemal; CESUR, YAŞARObjective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characterized by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia. The objective of this study was to determine the distribution of causative mutations in a hereditary form of nIHH. Methods: In this prospective collaborative study, 22 families with more than one affected individual (i.e. multiplex families) with nIHH were recruited and screened for genes known or suspected to be strong candidates for nIHH. Results: Mutations were identified in five genes (GNRHR, TACR3, TAC3, KISS1R, and KISS1) in 77% of families with autosomal recessively inherited nIHH. GNRHR and TACR3 mutations were the most common two causative mutations occurring with about equal frequency. Conclusions: Mutations in these five genes account for about three quarters of the causative mutations in nIHH families with more than one affected individual. This frequency is significantly greater than the previously reported rates in all inclusive (familial plus sporadic) cohorts. GNRHR and TACR3 should be the first two genes to be screened for diagnostic purposes. Identification of causative mutations in the remaining families will shed light on the regulation of puberty.Publication Metadata only Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)(2012-01-01T00:00:00Z) Yuca, Sevil Ari; Rendtorff, Nanna Dahl; Boulahbel, Houda; Lodahl, Marianne; Tranebjaerg, Lisbeth; Cesur, YAŞAR; Dogan, Murat; Yilmaz, Cahide; Akgun, Cihangir; Acikgoz, Mehmet; CESUR, YAŞARWolfram syndrome, also named -DIDMOAD- (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c. 1532T>C; p.Leu511Pro) causing Wolfram syndrome in a large inbred Turkish family. The patients showed early onset of IDDM, diabetes insipidus, optic atrophy, sensorineural hearing impairment and very rapid progression to renal failure before age 12 in three females. Ectopic expression of the wolframin mutant in HEK cells results in greatly reduced levels of protein expression compared to wild-type wolframin, strongly supporting that this mutation is disease-causing. The mutation showed perfect segregation with disease in the family, characterized by early and severe clinical manifestations. (C) 2011 Elsevier Masson SAS. All rights reserved.Publication Metadata only The frequency of Hashimoto thyroiditis in children and the relationship between urinary iodine level and Hashimoto thyroiditis(2011-03-01T00:00:00Z) Dogan, Murat; Acikgoz, Emel; ACIKGOZ, Mehmet; Cesur, YAŞAR; ARIYUCA, Sevil; BEKTAS, Mehmet Selcuk; CESUR, YAŞARThe aim of this study was to determine the frequency of thyroid autoimmunity in second grade primary school students and to examine the relationship between iodine and Hashimoto thyroiditis (HT). This was a cohort study performed with 1000 students. Urinary iodine levels, antithyroid peroxidase (anti-TPO) and antithyroglobulin (anti-Tg) antibodies were determined in all children. Children with anti-TPO or anti-Tg antibody positivity or with goiter were summoned for detailed examinations. In total, 36 cases (3.6%) were diagnosed as HT. The goiter frequency was found in 17.5% of the whole cohort. Additionally, iodine deficiency was found in 64.2% of all children. The median urinary iodine excretion was determined as 132 mu g/L (range 382 mu g/L) in the HT group, whereas it was 73 mu g/L (range 390 mu g/L) in children with goiter but without HT and 81 mu g/L (range 394 mu g/L) in normal children. The urinary iodine level of HT cases was significantly higher than the other two groups (p < 0.001). HT was also determined in 2% of patients with low urinary iodine levels, in 6.2% of patients with normal urinary iodine levels, and in 7.5% of patients with high urinary iodine levels. Our data demonstrates the close relationship between excessive iodine levels and autoimmunity.Publication Metadata only Cerebral Venous Sinus Thrombosis in 2 Children With Celiac Disease(2011-10-01T00:00:00Z) Dogan, Murat; Peker, Erdal; Akbayram, Sinan; Bektas, Mehmet S.; Başaranoğlu, Murat; Cesur, YAŞAR; Caksen, Huseyin; CESUR, YAŞARCerebral venous sinus thrombosis (CVST) is an uncommon disease in childhood. In the largest study carried out so far, the incidence was 0.67 case per 100 000 children per year. A number of etiologies and risk factors have been so far identified for CVST in childhood, including head trauma, local and systemic infectious diseases, malignancies, and autoimmune diseases. Celiac disease (CD) is a disease of the small intestine caused by an immune response to ingested gluten. Epilepsy, bilateral occipital calcification, cerebellar ataxia, degenerative central nervous system disease, peripheric neuropathy, myopathy, and rarely stroke were defined as neurologic disorders. In this presentation, we report 2 cases (16-year-old boy and 2-year-old boy) with CD and CVST. We emphasized that CD can be investigated in patients with CVST even with the absence of gastrointestinal symptoms. Finally, we suggest that algorithm of CVST can be involved in the investigation of CD.Publication Metadata only Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families(2015-03-01) DEMIRBILEK, Huseyin; OZBEK, M. Nuri; DEMIR, Korcan; KOTAN, LEMAN DAMLA; Cesur, YAŞAR; Dogan, Murat; Temiz, Fatih; Mengen, Eda; GÜRBÜZ, FATİH; YÜKSEL, BİLGİN; Topaloglu, A. Kemal; CESUR, YAŞARObjectiveThe spectrum of genetic alterations in cases of hypogonadotropic hypogonadism continue to expand. However, KISS1R mutations remain rare. The aim of this study was to understand the molecular basis of normosmic idiopathic hypogonadotropic hypogonadism.Publication Metadata only LATE ONSET ARGININE SUCCINATE LYASE DEFICIENCY WITH NORMAL PLASMA AMMONIA LEVEL(2011-01-01T00:00:00Z) Yilmaz, Cahide; Dogan, Murat; Cesur, Yaşar; Caksen, Huseyin; Yuca, Sevil Ari; Atas, Bulent; Tuncer, Oguz; CESUR, YAŞARArginine succinate lyase (ASL) deficiency is one of the most common cause of urea cycle defect and shows all characteristics of this disorders. This disease is presented with hyperammonemia, abnormally kinky hair and mental retardation. 6-years-old-girl was brought to our hospital because of skin eruption, weight loses, abdominal pain, having no appetite, polydipsia and pollakiuria. In physical examination, especially occipital balding, mental retardation, hepatomegaly, ataxia and articulation defect were found. She, who was diagnosed as ASL deficiency after the laboratory examinations, had normal blood ammonia levels. Finally in this study, we emphasize; ASL deficiency must be thought when a child has mental retardation and cerebellar ataxia, even if normal ammonia levels.