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Öğe CLINICAL OVERVIEW OF INSULIN RESISTANCE IN PATIENTS WITH TYPE 1 GAUCHER DISEASE(Elsevier, 2008) Ucar, S. Kalkan; Coker, M.; Argin, M.; Kara, S.; Simsek, D. Goksen; Darcan, S.Öğe A coincidence of mucopolysaccharidosis type IIIA and familial hypercholesterolaemia type II A: A case report(Springer, 2006) Kalkan, S.; Coker, M.; van Diggelen, O. P.; Huijmans, J.; Goksen, D.; Darcan, S.Öğe The Effect of the SARS-CoV-2 Pandemic on Presentation with Diabetic Ketoacidosis in Children with New Onset Type 1 Diabetes Mellitus(Galenos Publishing House, 2023) Jalilova, A.; Ata, A.; Demir, G.; Işıklar, H.; Altınok, Y.A.; Özen, S.; Darcan, S.Objective: Diabetic ketoacidosis (DKA) is a life-threatening, acute complication of type 1 diabetes mellitus (T1DM). Infection is the most common precipitating factor for DKA, being responsible for more than 50% of such complications. The frequency and severity of DKA in children with T1DM, before and during the coronavirus disease 2019 outbreak were evaluated and compared with pre-pandemic presentation and severity rates. Methods: In total, 199 patients younger than 18 years were included in the study. Patients were divided into two groups: the Coronavirus disease-2019 (COVID-19) pandemic group (new onset T1DM presenting from March 2020 to March 2021; the control group included new onset T1DM from March 2016 to March 2020. Results: The rate of DKA at presentation was similar (p=0.393) during the pandemic period (58.3%) compared to the pre-pandemic years (44.8-64.3%). Although the percentage of DKA was similar, the rate of severe DKA in the COVID-19 group was higher than previous years. Although not significant, the duration of diabetes symptoms was longer in the COVID-19 period than the previous years. Conclusion: This study suggests that the rate of severe DKA, but not the overall rate of DKA, has increased during the COVID-19 pandemic compared to the prior four years. This may be due to the behavior of the parents of sick children and the limited access to the healthcare system. Despite this limited access, parental concern may have been sufficiently high to seek medical attention for their children, avoiding an increased frequency of DKA as the first presentation of new-onset T1DM. © 2023 by Turkish Society for Pediatric Endocrinology and Diabetes / The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House.Öğe A five years expirience of LDL-apheresis in pediatric patients with homozygous familial hypercholesterolaemia(Springer, 2007) Coker, M.; Kalkan, Ucar S.; Buyukinan, M.; Goksen, Simsek R. D.; Darcan, S.; Bak, M.; Can, D.; Serdaroglu, E.; Gulle, S.; Ozhan, B.; Can, S.Öğe Genotype-phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey(Springer, 2019) Abaci, A.; Catli, G.; Kirbiyik, O.; Sahin, N. M.; Abali, Z. Y.; Unal, E.; Siklar, Z.; Mengen, E.; Ozen, S.; Guran, T.; Kara, C.; Yildiz, M.; Eren, E.; Nalbantoglu, O.; Guven, A.; Cayir, A.; Akbas, E. D.; Kor, Y.; Curek, Y.; Aycan, Z.; Bas, F.; Darcan, S.; Berberoglu, M.BackgroundStudies regarding genetic and clinical characteristics, gender preference, and gonadal malignancy rates for steroid 5-alpha-reductase type 2 deficiency (5-RD2) are limited and they were conducted on small number of patients.ObjectiveTo present genotype-phenotype correlation, gonadal malignancy risk, gender preference, and diagnostic sensitivity of serum testosterone/dihydrotestosterone (T/DHT) ratio in patients with 5-RD2.Materials and methodsPatients with variations in the SRD5A2 gene were included in the study. Demographic characteristics, phenotype, gender assignment, hormonal tests, molecular genetic data, and presence of gonadal malignancy were evaluated.ResultsA total of 85 patients were included in the study. Abnormality of the external genitalia was the most dominant phenotype (92.9%). Gender assignment was male in 58.8% and female in 29.4% of the patients, while it was uncertain for 11.8%. Fourteen patients underwent bilateral gonadectomy, and no gonadal malignancy was detected. The most frequent pathogenic variants were p.Ala65Pro (30.6%), p.Leu55Gln (16.5%), and p.Gly196Ser (15.3%). The p.Ala65Pro and p.Leu55Gln showed more undervirilization than the p.Gly196Ser. The diagnostic sensitivity of stimulated T/DHT ratio was higher than baseline serum T/DHT ratio, even in pubertal patients. The cut-off values yielding the best sensitivity for stimulated T/DHT ratio were8.5 for minipuberty,10 for prepuberty, and17 for puberty.ConclusionThere is no significant genotype-phenotype correlation in 5-RD2. Gonadal malignancy risk seems to be low. If genetic analysis is not available at the time of diagnosis, stimulated T/DHT ratio can be useful, especially if different cut-off values are utilized in accordance with the pubertal status.Öğe Individualization of enzyme replacement therapy and of therapy for severe skeletal manifestations in a child with Gaucher disease(Elsevier, 2007) Ucar, S. Kalkan; Coker, M.; Argun, M.; Kara, S.; Erhan, E.; Simsek, D. Goksen; Darcan, S.Öğe Infantile-onset glycogen storage disease type II: Report of a case presented with lung hypolasia(Springer, 2006) Coker, M.; Kalkan, S.; Karaplnar, B.; Levent, E.; Ozyurek, R.; Atlihan, F.; van Diggelen, O. P.; Goksen, D.; Darcan, S.Öğe Investigation of androgen receptor (AR) gene mutation spectrum in the turkish patients with disorder of sex development(Nature Publishing Group, 2018) Onay, H.; Ozen, S.; Turk, T. Sozen; Darcan, S.; Atik, T.; Anik, A.; Guven, A.[No Abstract Available]Öğe Iodine measurements by isotope dilution analysis in drinking water in Western Turkey(Springer, 2007) Uenak, P.; Lambrecht, F. Yurt; Biber, F. Z.; Darcan, S.This study was designed to evaluate iodine concentrations in drinking water samples using isotope dilution analysis (IDA) in the Aegean region of Turkey A total of 76 drinking water samples from rural and urban areas in regional cities were analyzed. The mean iodine concentration was 78 +/- 27 mu g/l and iodine concentration ranges were within 69 +/- 26 mu g/l and 103 +/- 6 mu g/l.Öğe Metabolic Syndrome After Hematopoietic Stem Cell Transplantation In Children(Nature Publishing Group, 2016) Aksoylar, S.; Guner, G.; Simsek, D. Gokcen; Gozmen, S.; Darcan, S.; Kansoy, S.Öğe A monocentric pilot study of an antioxidative defense and hsCRP in pediatric patients with glycogen storage disease type IA and III(Elsevier Sci Ltd, 2009) Ucar, S. Kalkan; Coker, M.; Sozmen, E.; Simsek, D. Goksen; Darcan, S.Background and aims: Patients with glycogen storage disease type Ia (GSD Ia) and III (GSD III) do not develop premature atherosclerosis despite hyperlipidemia. The aim of the study was to investigate the oxidative-antioxidative conditions and high sensitivity C-reactive protein (hsCRP) levels in patients with glycogen storage disease type Ia and III. Methods: We measured lipid profile and lipid peroxidation products in comparison with hsCRP and antioxidative status: trolox equivalent antioxidant capacity, total antioxidant activity, proteinaceous antioxidant enzymes (catalase, superoxide dismutase, paraoxonase, arylesterase), aqueous antioxidants (vitamin C, uric acid, bilirubin, total protein) and lipid-soluble antioxidants (alpha-tocopherol, beta-carotene). The study included 50 individuals: 22 with GSD Ia, 9 with GSD III, and 19 healthy subjects. Results: GSD Ia patients showed a marked hypertriglyceridemia, whereas GSD III patients demonstrated hypercholesterolemia with elevated LDL-cholesterol and decreased HDL-chotesterol levels. Lipid peroxidation levels increased in both GSD groups. The antioxidant activity elevated in GSD la group. No significant differences were found in the activities of antioxidant enzymes. Uric acid and alpha-tocopherol levels increased, however, vitamin C and beta-carotene reduced in both GSD groups. The hsCRP levels did not differ among the groups. Conclusions: In summary our study revealed normal levels of hsCRP in spite of the dyslipidemic status in both GSD patients. The increased plasma antioxidative defense in GSD la might be attributed not only to the elevated uric acid but also to the supplemented vitamin E Levels. These findings should motivate further investigations in the area of atherosclerotic escape of GSDs. (c) 2008 Elsevier B.V. All rights reserved.Öğe A NEW CLINICAL PRESENTATION ASSOCIATED WITH PONTINE CLEFTING, HYPERPIGMENTATION AND SHORT STATURE IN ADDITION TO CRANIOFACIAL, CARDIAC AND DEVELOPMENTAL ANOMALIES(Medecine Et Hygiene, 2012) Cogulu, O.; Durmaz, B.; Wollnik, B.; Durmaz, A.; Darcan, S.; Özkınay, FerdaA new clinical presentation associated with pontine clefting, hyperpigmentation and short stature in addition to craniofacial, cardiac and developmental anomalies: We report on a 13-year-old girl who was the first child of nonconsanguineous parents, and who suffered from short stature accompanied with mental retardation, generalized hyperpigmentation of the skin and craniofacial findings. Her cardiological examination revealed atrial septal defect, mitral valve prolapsus and atrial septal aneurysm. Brain scans revealed dilatation of the third and lateral ventricles and a pontine cleft Growth hormone (GH) deficiency was observed during the evaluation of GH/IGF-1 axis. All the laboratory tests performed including metabolic screening, conventional karyotype and oligonucleotide array were normal. Mutation analysis of the C2ORF37 gene revealed no mutation. The clinical signs seen in this patient likely represent a new dysmorphological syndrome which has not been previously described.Öğe Renal involvement as a rare complication of Dorfman-Chanarin syndrome: A case report(Springer, 2006) Coker, M.; Kutukculer, N.; Aksu, G.; Goksen, D.; Kalkan, S.; Darcan, S.Öğe SENSOR AUGMENTED PUMP THERAPY EFFECTS GLYCEMIC VARIABILITY(Mary Ann Liebert, Inc, 2020) Evin, F.; Demir, G.; Cetin, H.; Ozen, S.; Darcan, S.; Goksen, D.[No abstract available]Öğe Six Months in Advanced Hybrid Closed Loop System in The Real World: Psychosocial Outcomes in Children And Adolescents With Type 1 Diabetes(Mary Ann Liebert, Inc, 2023) Jalilova, A.; Pilan, B. Şentürk; Demir, G.; Özbaran, B.; Köse, S. G.; Özen, S.; Darcan, S.[No abstract available]Öğe Stress hyperglycemia in febrile children: relationship to prediabetes(Edizioni Minerva Medica, 2011) Saz, E. U.; Ozen, S.; Goksen, D. Simsek; Darcan, S.Aim. The aim of this study was to describe clinical characteristics and short-term outcomes in febrile infants and children with stress hyperglycemia (SH), and to evaluate the relationship between SH and prediabetes. Methods. Febrile infants and children, with an axillary temperature >= 37.3 degrees C, who presented to the emergency department, were enrolled. Demographica data, illness severity, results of diagnostic tests were recorded. The patients were screened for hyperglycemia, defined as capillary blood sugar >7.7 mmol/L, using a bedside glucometer and hyperglycemia was confirmed by venous blood glucose measurements in the laboratory. Patients were classified according to illness severity, using the Emergency Severity Index (ESI). Patients with SH were also evaluated for biochemical markers to screen for pre-diabetes. Oral glucose tolerance test and immunological markers for diabetes mellitus were studied in patients with confirmed SH, one week after the emergency department visit. Results. A hundred and eighty-five children (61% males), with a mean age of 4.46 +/- 4.08 years, were enrolled. Normoglycemic children (N.=163) constituted group 1, and children with SH (N.=22) constituted group 2. Children with high illness severity, male gender, sepsis and central nervous system (CNS) infection were more likely to have SH. All children with SH had uneventful recovery, glucose metabolism and biochemical markers were normal and 50% were referred to the hospital. Conclusion. SH occurred more frequently in children with higher illness severity, a body temperature >39 degrees C, and sepsis or CNS infection. There was no evidence of abnormal glucose metabolism or elevated biochemical markers for diabetes on follow-up, following the resolution of acute illness.Öğe Transient Salt Wasting in POMC-deficiency due to Infection Induced Stress(Johann Ambrosius Barth Verlag Medizinverlage Heidelberg Gmbh, 2010) Darcan, S.; Can, S.; Goksen, D.; Asar, G.Obesity is a multifactorial disorder influenced by genetic, behavioral, environmental and cultural factors. A twelve month old male patient was admitted to the hospital because of malaise, irritability, disquietness and obesity. His BMI was 19.8 kg/m(2) and BMI SDS was 1.38. Mental development was normal, and motor skills were mildly delayed most probably due to his obesity. His physical examination was totally normal except obesity and red hair. A history of hypoglycemia on the fourth day of life, which resolved after oral glucose administration, was reported. The child had been hyperphagic from the first weeks of life and had aggressive behavior when food was denied. The body weight of the patient increased dramatically during the first year of life. Based on the clinical features and laboratory findings (the overgrowth syndrome, red hair, hypoglycemia and hypocortisolism) the patient was diagnosed as POMC deficiency and the diagnosis was confirmed by genetic studies. Hypoglycemia and apnea episodes ceased as he was put on hydrocortisone but he developed relative mineralocorticoid deficiency during a urinary tract infection. In POMC deficiency, relative mineralocorticoid deficiency should be in mind in episodes of severe stress and therapy should be initiated.Öğe The two cases of Salla disease in Turkish children(Springer, 2006) Coker, M.; Kalkan, S.; van Diggelen, O. P.; Huijmans, J.; Goksen, D.; Darcan, S.Öğe Unexpected death of a case with argininosuccinate lyase deficiency(Springer, 2007) Kalkan, Ucar S.; Coker, M.; Comakli, N. S.; Habif, S.; Goksen, Simsek R. D.; Darcan, S.; Bayindir, O.