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Öğe A 17-year-old boy who presented with acute mononeuropathy was found to have Type 1 diabetes(Taylor & Francis Ltd, 2022) Ozguc Comlek, Fatma; Karal, Yasemin; Tutunculer, FilizDiabetic neuropathy in children and adolescents with Type 1 diabetes mellitus is rare and is usually subclinical and a complication of the late diabetes period. A 17-year-old boy admitted with a right foot drop of sudden onset was diagnosed with peroneal nerve palsy. He had had osmotic polyuria, polydipsia and weight loss for the past 2 months; his blood glucose was 25 mmol/L (<7.8), HbA1c 15.2% (4.0-5.6) and vitamin B-12 125 pg/ml (180-914). The peroneal nerve palsy resolved within 3 months with blood glucose regulation and B-12 supplementation. Diabetes should be borne in mind in the differential diagnosis of unusual cases of mononeuropathy.Öğe Benign transient hyperphosphatasemia in an infant during zinc supplementation(Aves, 2018) Sonmez, Ayca Bilge; Arifoglu, Ilter; Yildirim, Ahmet; Tutunculer, FilizBenign transient hyperphosphatasemia is characterized by a significant increase in alkaline phosphatase levels, which is detected incidentally in infancy and children without underlying bone and liver disease. This condition is a biochemical disorder rather than a clinical disorder and resolves within a short duration. Recognition of this entity by pediatricians is important to avoid unnecessary investigations. Here, we report an infant who was diagnosed as having benign transient hyperphosphatasemia based on clinical and laboratory findings who had increased alkaline phosphatase levels during zinc supplementation, with the aim of highlighting benign transient hyperphosphatasemia in infancy and childhood.Öğe Brain atrophy and hypomyelination associated with Iatrogenic cushing syndrome in an infant(Iranian Child Neurology Soc, 2018) Dogan, Sumeyra; Dogan, Mehmet S.; Tutunculer, Filiz; Yapiciugurlar, Ozge; Genchellac, HakanProlonged use of topical corticosteroids, particularly in infants, albeit rare, may lead to Cushing syndrome. Central nervous system abnormalities including brain atrophy and delayed myelination on cranial magnetic resonance imaging has been reported in patients with corticosteroid treatment. We herein report a 5-month-old female infant referred to Department of Pediatric Endocrinology, Edirne, Turkey with brain atrophy and myelination delay that might be due to iatrogenic Cushing syndrome caused by topical corticosteroid use.Öğe Brain Atrophy and Hypomyelination Associated with Iatrogenic Cushing Syndrome in an Infant(Iranian Child Neurology Soc, 2018) Dogan, Sumeyra; Dogan, Mehmet S.; Tutunculer, Filiz; Yapiciugurlar, Ozge; Genchellac, HakanProlonged use of topical corticosteroids, particularly in infants, albeit rare, may lead to Cushing syndrome. Central nervous system abnormalities including brain atrophy and delayed myelination on cranial magnetic resonance imaging has been reported in patients with corticosteroid treatment. We herein report a 5-month-old female infant referred to Department of Pediatric Endocrinology, Edirne, Turkey with brain atrophy and myelination delay that might be due to iatrogenic Cushing syndrome caused by topical corticosteroid use.Öğe A CASE WITH INFANTILE HYPOPHOSPHATASIA PRESENTING WITH SEVERE HYPERCALCEMIA AND PSEUDOTUMOR CEREBRI(Karger, 2017) Tutunculer, Filiz; Mutlu, Kibar; Uguz, Ayse; Yildiz, Raif; Ozkayin, Nese[Abstract Not Available]Öğe Clinical and Laboratory Features at the Onset of Childhood Type 1 Diabetes Mellitus in the Nortwest Region (Trakya) of Turkey(Karger, 2018) Dilek, Emine; Bezen, Digdem; Comlek, Fatma Ozguc; Ozkaya, Beyhan; Tutunculer, Filiz[Abstract Not Available]Öğe Clinical-Laboratory Findings of the Cases with Premature Pubarche and the Value of Acth Stimulation Test in the Differential Siagnosis(Karger, 2016) Dilek, Emine; Tutunculer, Filiz; Bezen, Digdem; Sut, Necdet[Abstract Not Available]Öğe The effect of melatonin on protein oxidation and nitric oxide in the brain tissue of hypoxic neonatal rats(Elsevier, 2007) Eskiocak, Sevgi; Tutunculer, Filiz; Basaran, Umit Nusret; Taskiran, Ali; Cakir, ErolMelatonin is a potent antioxidant agent that can scavenge oxy- and nitroradicals generated under hypoxic conditions in the brain. In this study, we investigated the effect of melatonin on protein oxidation and nitric oxide (NO) during hypoxia. Seven-day-old Sprague-Dawley newborn rats were divided into three groups. Hypoxic (n = 9) and melatonin (n = 11) groups were subjected to 2 h of hypoxic exposure (a humidity mixture of gases consisting of 92% nitrogen and 8% oxygen). Melatonin (at a dose of 10 mg/kg) was administrated 30 min before the onset hypoxia and then at 24th and 48th hours after the end of the hypoxic exposure. Control (n = 10) and hypoxic groups received the isotonic sodium chloride according to the same schedule. The brain tissue concentration of advanced oxidation protein products (AOPP) and protein thiol (P-SH) was used as an index of protein oxidation. In our study, although AOPP and NO increased significantly, the levels of P-SH decreased in the hypoxic group. The level of AOPP was declined by melatonin treatment. However, perturbed thiol status could not be recovered by melatonin treatment. There was no relationship between the levels of NO and protein oxidation markers. These results indicate that exogenous melatonin could prevent AOPP, but that it is inadequate in recovering perturbed thiol status. Therefore, melatonin alone was observed to be an incomplete treatment to prevent protein oxidation in hypoxia-induced brain damage. (c) 2006 Elsevier B.V. All rights reserved.Öğe Etiological evaluation of primary congenital hypothyroidism cases(Aves, 2017) Bezen, Digdem; Dilek, Emine; Torun, Nese; Tutunculer, FilizAim: Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. Material and Methods: Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study. Thyroid hormon levels were evaluated and thyroid ultrasonography was performed in cases who are at the end of their 3 years of age, after 6 weeks of thyroxine free period. Thyroid sintigraphy was performed if serum thyroid-stimulating hormone was high (>= 5 mIU/mL) and perchlorate discharge test was performed if uptake was normal or increased on sintigraphy. Cases with thyroid-stimulating hormone levels >= 5 mIU/mL were defined as permanent primary congenital hypothyroidism group and as transient primary congenital hypothyroidism group with normal thyroid hormones during 6 months. Results: The mean age was 3.8 +/- 0.7 years. Mean diagnosis age was 16.6 +/- 6.5 days and 14 cases (29.2%) were diagnosed by screening program of Ministry of Health. There were 23 cases (14F, 9M) in permanent primary congenital hypothyroidism group and 12 (52.2%) of them were dysgenesis (8 hypoplasia, 4 ectopia), and 11 (47.8%) dyshormonogenesis. In transient primary congenital hypothyroidism group, there were 25 cases (17M, 8F). The mean thyroid-stimulating hormone levels at diagnosis were similar in two groups. The mean thyroxin dose in permanent primary congenital hypothyroidism group was significantly higher than transient group at the time of thyroxin cessation (2.1 +/- 0.7, 1.5 +/- 0.5 mg/kg/d, respectively, p=0.004). Thyroxin dose >= 1.6 mcg/kg/d was 72% sensitive and 69.6% specific for predicting permenant primary congenital hypothyroidism. Conclusions: Transient primary congenital hypothyroidism is more frequent than expected and found often in males in the primary congenital hypothyroidism cases, started thyroxin therapy in neonatal period. While fT4, thyroid-stimulating hormone, Tg levels at diagnosis do not predict transient/permenant primary congenital hypothyroidism, thyroxin dose before the therapy cessation at the age of 3 may make the distinction between transient/permenant primary congenital hypothyroidism.Öğe Etiological, clinical and biochemical characteristics of 367 children with early pubertal development from the Trakya region of Turkey(Cukurova Univ, Fac Medicine, 2022) Kilavuz, Sebile; Bezen, Digdem; Sut, Necdet; Dilek, Emine; Tutunculer, FilizPurpose: The aim of this study was to describe etiologies, clinical findings, and compare anthropometric properties and biochemical characteristics of children with Precocious Puberty (PP).Materials and Methods: In this single-center study, 367 patients of whom medical records were reviewed diagnosed as premature thelarche (PT), premature adrenarche (PA), Central PP (CPP), and peripheral PP (PPP). The diagnosis was based on clinical, laboratory, and radiologic investigations and their follow-up.Results: During six years, 349 girls (%95,1) and 18 boys (%4,9) diagnosed as PP. The most common etiologies were CPP;127 (%34,6), PT;117 (%31,9), PA;112(%30,5) and PPP 11(%3), respectively. CPP group had significantly higher levels of height, weight, body mass index (BMI) and obesity/overweight incidence, estradiol (E2), basal luteinizing hormone (LH), peak LH, and peak LH/ follicle -stimulating hormone (FSH) ratio and higher uterine dimensions compared to the PT group while the PT group had significantly higher levels of peak FSH compared to the CPP group. It is impossible for the laboratory results to exactly match in each case with CPP, and the cases should be evaluated along with other clinical findings.Conclusion: Our study detected an increase in the frequency of girls referred to with PP signs. However, most children with PP were revealed as an incomplete type with a very low incidence of endocrine pathology. The complexity of pathogenesis in PP should lead us to be cautious about the consequences of PP in patients andevaluate their complaints, physical findings, and laboratory work-up seriously, such as a piece of a puzzle.Öğe Etiologies of Short Stature in Pedaitric Endocrine Clinic in Northwest Region (Trakya) of Turkey(Karger, 2018) Ozkaya, Beyhan; Dilek, Emine; Bezen, Digdem; Comlek, Fatma Ozguc; Tutunculer, Filiz[Abstract Not Available]Öğe Evaluation of Adrenomedullary Function in Patients with Congenital Adrenal Hyperplasia(Karger, 2009) Tutunculer, Filiz; Saka, Nurcin; Arkaya, Selda Can; Abbasoglu, Semra; Bas, FirdevsBackground/Aims: Congenital adrenal hyperplasia (CAH) is characterized by adrenal insufficiency with or without salt wasting. It is also accompanied by adrenomedullary hypofunction. The aim of the present study was to investigate adrenomedullary function in patients with CAH due to 21-hydroxylase and 11 beta-hydroxylase deficiencies and in age-matched normal subjects. Methods: We measured plasma catecholamines (epinephrine and norepinephrine) and urine metanephrine in 44 patients with CAH, 32 due to 21-hydroxylase deficiency (17 patients with the salt-wasting form and 15 patients with the simple virilizing form), and 12 due to 11 beta-hydroxylase deficiency, and in 25 healthy controls. Results: Plasma epinephrine and urine metanephrine levels were significantly higher in the controls than in patients with CAH (p = 0.02 and p < 0.001, respectively). Plasma norepinephrine levels were significantly lower in the controls than in patients with CAH (p < 0.001). Interestingly, patients with the salt-wasting form had lower norepinephrine levels in comparison to the other subgroups of CAH. Conclusion: Despite the fact that CAH patients have insufficient epinephrine secretion, these patients have the ability to increase compensatory norepinephrine. However, this increase is much lower in patients with the salt-wasting form. These findings need to be confirmed by other studies. Copyright (C) 2009 S. Karger AG, BaselÖğe Evaluation of adrenomedullary function in patients with congenital adrenal hyperplasia (CAH)(Karger, 2006) Tutunculer, Filiz; Saka, Nurcin; Can, Selda Arkaya; Abbasoglu, Semra; Bas, Firdevs; Gunoz, Hulya[Abstract Not Available]Öğe Evaluation of Autoimmune Thyroiditis Development on Onset and During Follow Up in Cases with Type 1 Diabetes Mellitus(Karger, 2016) Bay, Bade; Tutunculer, Filiz; Bezen, Digdem; Dilek, Emine; Ekuklu, Galip[Abstract Not Available]Öğe Evaluation of pituitary function in cases with the diagnosis of pediatric mild traumatic brain injury: Cross-sectional study(Medknow Publications & Media Pvt Ltd, 2016) Aylanc, Hakan; Tutunculer, Filiz; Sut, NecdetBackground: This study was to determine whether pituitary dysfunction occurs after head trauma in children or not and which axis is affected more; to define the association of pituitary dysfunction with the severity of head trauma and duration time after the diagnosis of head trauma. Materials and Methods: In this study, 24 children who were diagnosed with head trauma were evaluated regarding pituitary dysfunction. In all cases, after 12 h fasting, serum cortisol, fT(3), fT(4), thyroid-stimulating hormone, prolactin, insulin-like growth factor-1, serum sodium, urine density, follicle-stimulating hormone, luteinizing hormone, in female cases E-2, in male cases, TT levels were determined. Results: Mean age of children was 9.5 +/- 3.1 years, 14 children (58.3%) had mild, 9 children (37.5%) had moderate, and 1 children (4.2%) had severe head trauma according to the Glasgow coma scale. Mean duration time after head trauma was 29.4 +/- 9.8 months. In all cases, no pathologic condition was determined in the pituitary hormonal axis. In one children (4.2%), low basal cortisol level was found. There were no children with hormonal deficiency in this study. Conclusion: Although pituitary dysfunction after head trauma may develop in the early period, some may present in the late period; therefore, all cases should be followed up at outpatient clinics for a longer period.Öğe Exogenous Cushing syndrome due to misuse of potent topical steroid(Wiley, 2018) Comlek, Fatma Ozguc; Orum, Sevim; Aydin, Salih; Tutunculer, FilizWe report an infant with exogenous Cushing syndrome after being treated for 2months with a potent topical corticosteroid via the mother's application of topical clobetasol for diaper rash without a prescription. We emphasize that potent topical steroids should be used with great caution, especially when used under occlusion (e.g., diaper area) and that parents should be warned about potential side effects of these medications, particularly when used in infants.Öğe Iatrogenic Cushing Syndrome Due to Topical Steroid Administration in an Infant(Aves Yayincilik, Ibrahim Kara, 2010) Tutunculer, Filiz; Tekin, Mustafa; Balci, Demet; Sahaloglu, OzlemTopical therapy with glucocorticoids is used commonly in chronic dermatoses. Although side effects are less common compared to systemic use, infants who are exposed to topical corticosteroids have greater risk for Cushing syndrome or adrenocortical insuffiency caused by suppression of hypothalamic-pituitary-adrenal axis because glucocorticoids are highly absorbed through the diaper area. However, the development of Cushing syndrome in an infant from topical steroid therapy is unusual. We present an infant with diaper dermatitis who developed iatrogenic Cushing syndrome due to prolonged clobetosel propionate use.Öğe Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene(Oxford Univ Press, 2021) Comlek, Fatma Ozguc; Yildiz, Raif; Seyrek, Fatma; Tutunculer, FilizLeydig cell aplasia/hypoplasia is an autosomal recessive condition. In its complete form, these patients are 46XY but are cryptorchid and phenotypically female. Most cases reported in literature presented with in adolescence with pubertal delay. We reported a case with a predefined mutation in the LHCGR gene, presenting with swelling in the inguinal region and therefore diagnosed in early childhood. We wanted to emphasize the necessity of keeping Leydig cell hypoplasia in mind in the differential diagnosis of sexual development disorders in early childhood.Öğe Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination(Endocrine Soc, 2023) Magnotto, John C.; Mancini, Alessandra; Bird, Keisha; Montenegro, Luciana; Tutunculer, Filiz; Pereira, Sidney A.; Simas, VitoriaContext Loss-of-function mutations in the maternally imprinted genes, MKRN3 and DLK1, are associated with central precocious puberty (CPP). Mutations in MKRN3 are the most common known genetic etiology of CPP. Objective This work aimed to screen patients with CPP for MKRN3 and DLK1 mutations and analyze the effects of identified mutations on protein function in vitro. Methods Participants included 84 unrelated children with CPP (79 girls, 5 boys) and, when available, their first-degree relatives. Five academic medical institutions participated. Sanger sequencing of MKRN3 and DLK1 5 ' upstream flanking and coding regions was performed on DNA extracted from peripheral blood leukocytes. Western blot analysis was performed to assess protein ubiquitination profiles. Results Eight heterozygous MKRN3 mutations were identified in 9 unrelated girls with CPP. Five are novel missense mutations, 2 were previously identified in patients with CPP, and 1 is a frameshift variant not previously associated with CPP. No pathogenic variants were identified in DLK1. Girls with MKRN3 mutations had an earlier age of initial pubertal signs and higher basal serum luteinizing hormone and follicle-stimulating hormone compared to girls with CPP without MRKN3 mutations. Western blot analysis revealed that compared to wild-type MKRN3, mutations within the RING finger domain reduced ubiquitination whereas the mutations outside this domain increased ubiquitination. Conclusion MKRN3 mutations were present in 10.7% of our CPP cohort, consistent with previous studies. The novel identified mutations in different domains of MKRN3 revealed different patterns of ubiquitination, suggesting distinct molecular mechanisms by which the loss of MRKN3 results in early pubertal onset.Öğe A patient with pseudoprecocious puberty (PPP) due to adrenocortical carcinoma(Karger, 2006) Tutunculer, Filiz; Basran, Umit Nusret; Puyan, Fulya Oz; Ozdagly, Ugur; Sengul, Gulden; Biner, Betul Orhaner[Abstract Not Available]
