Person: DENKBOY ÖNGEN, YASEMİN
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DENKBOY ÖNGEN
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YASEMİN
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Publication Genotype and phenotype heterogeneity in neonatal diabetes: A single centre experience in Turkey(Galenos Yayıncılık, 2021-03-01) Öngen, Yasemin Denkboy; Eren, Erdal; Demirbaş, Özgecan; Sobu, Elif; Ellard, Sian; De Franco, Elisa; Tarım, Ömer; DENKBOY ÖNGEN, YASEMİN; EREN, ERDAL; DEMİRBAŞ, ÖZGECAN; Sobu, Elif; TARIM, ÖMER FARUK; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinolojisi Anabilim Dalı.; 0000-0002-5657-4260; 0000-0002-1684-1053; 0000-0002-6922-5203; 0000-0002-2037-7046; 0000-0002-5322-5508; KHZ-1491-2024 ; JPK-3909-2023; GQX-9760-2022 ; GSN-9730-2022; CCU-8073-2022Objective: Neonatal diabetes mellitus (NDM) may be transient or permanent, and the majority is caused by genetic mutations. Early diagnosis is essential to select the patients who will respond to oral treatment. In this investigation, we aimed to present the phenotype and genotype of our patients with NDM and share our experience in a single tertiary center.Methods: A total of 16 NDM patients from 12 unrelated families are included in the study. The clinical presentation, age at diagnosis, perinatal and family history, consanguinity, gender, hemoglobin A1c, C-peptide, insulin, insulin autoantibodies, genetic mutations, and response to treatment are retrospectively evaluated.Results: The median age at diagnosis of diabetes was five months (4 days-18 months) although six patients with a confirmed genetic diagnosis were diagnosed >6 months. Three patients had KCNJ11 mutations, six had ABCC8 mutations, three had EIF2AK3 mutations, and one had a de novo INS mutation. All the permanent NDM patients with KCNJ11 and ABCC8 mutations were started on sulfonylurea treatment resulting in a significant increase in C-peptide level, better glycemic control, and discontinuation of insulin.Conclusion: Although NDM is defined as diabetes diagnosed during the first six months of life, and a diagnosis of type 1 diabetes is more common between the ages of 6 and 24 months, in rare cases NDM may present as late as 12 or even 24 months of age. Molecular diagnosis in NDM is important for planning treatment and predicting prognosis. Therefore, genetic testing is essential in these patients.Publication Prevalence of obesity in prepubertal and pubertal with Turkish population type 1 diabetes(Springer, 2021-02-18) Özkaya, Volkan; Özgen Ozkaya, Sebnem; Eren, Erdal; EREN, ERDAL; Denkboy Ongen, Yasemin; DENKBOY ÖNGEN, YASEMİN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Endokrinoloji Anabilim Dalı.To determine the prevalence of prepubertal and pubertal obesity in children and adolescents with type 1 Diabetes Mellitus (Type 1 DM). One hundred fifty children and adolescents aged 6-18 years with Type 1 DM who attended the Pediatric Endocrinology Polyclinic and were diagnosed with type 1 DM were included in the study. Tanner staging was used to estimate pubertal status. Age- and gender-specific body mass index (BMI) percentile between 85 and 95% was accepted as overweight and > 95% as obese. It was determined that the overweight prevalence rates in children and adolescents with type 1 DM were 13.3% and the obesity rate was 14.3%. It was found that while the overweight prevalence rates (14.1%) were higher in males, the obesity prevalence was higher in females (19.0%). The obesity prevalence rates at the prepubertal and pubertal stages were found to be 17.1% and 13.8%, respectively. The obesity prevalence at the pubertal stage was higher in girls (22.4%) than boys (3.9%) (p < 0.05). The rates both of overweight and obesity in boys decreased from prepubertal to pubertal periods, while those rates increased in girls. Our results indicated that the obesity prevalence in prepubertal and pubertal children and adolescents with type 1 DM was higher compared to healthy peers in the literature. The authors believe that the risk factors for obesity in this population should be determined and obesity-prevention programs for diabetes should be prepared.Publication Acute endocrine and metabolic complications during treatment in childhood acute lymphoblastic leukemia patients: Retrospective study(Güncel Pediatri, 2023-04-01) Evim, Melike Sezgin; Tobçu, Zeynep; Güler, Salih; Öngen, Yasemin Denkboy; Güneş, Adalet Meral; SEZGİN EVİM, MELİKE; TOBCU, ZEYNEP; GÜLER, SALİH; DENKBOY ÖNGEN, YASEMİN; MERAL GÜNEŞ, ADALET; Uludağ Üniversitesi Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Hematoloji Bilim Dalı; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dal; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Endokrinoloji Bilim Dal; IRI-7023-2023; JJX-6307-2023; JHO-2788-2023; JJP-0399-2023; JGX-6145-2023Introduction: Acute leukemias are the most common malignancy of childhood, and acute lymphoblastic leukemia (ALL) is the most common subtype. In this study; we aimed to asses to acute endocrine and metabolic complications which occurs during treatment. Newly diagnosed ALL patients were included in the study.Materials and Methods: The endocrine and metabolic complication of 293 patients aged 1-18 years old who were newly diagnosed ALL between January 2007 and December 2017 in Uludag University Faculty, Department of Pediatric Hematology were analyzed. Patients' age, gender, risk groups, leukemia subtypes, and chemotherapy phases at the time of endocrine complications were noted.Results: In total, 250 patients were follow-up with B-ALL and 43 patients with T-ALL. 64% (n=188) of patients were male and 36% (n=105) were female. In our study, 36.4% of patients were in the high risk group but ten of the patients died before the risk group could be determined. During the two-year treatment, We found that 83% of the patients developed at least one endocrine complication. Hyperglycemia, osteoporosis and avascular necrosis were observed more frequently in patients older than 10 years at the time of diagnosis. The difference between the sexes was found only in vitamin D and was lower in girls. In regression analysis, only to be high risk group were found to be effective for the development of endocrine complications.Conclusion: Although the chemotherapeutics used today have prolonged the survival time, they have caused an increase in the incidence of complications. We think that these complications can be reduced by determining the risk factors in advance.Publication Telemedicine experiences at a pediatric endocrinology clinic during the COVID-19 pandemic(Springer, 2021-06-07) Denkboy Öngen, Yasemin; Eren, Erdal; Şahin, Kadriye Cansu; Buhur Pirimoğlu, Meltem; Sağlam, Halil; Tarim, Ömer; DENKBOY ÖNGEN, YASEMİN; EREN, ERDAL; ŞAHİN, KADRİYE CANSU; BUHUR PİRİMOĞLU, MELTEM; SAĞLAM, HALİL; TARIM, ÖMER FARUK; Bursa Uludağ Üniversitesi/Çocuk Endokrinolojisi Anabilim Dalı; 0000-0002-1684-1053; 0000-0002-6598-8262; 0000-0002-5657-4260; KHZ-1491-2024; JPK-3909-2023; GLN-8241-2022; CCU-8073-2022Background The coronavirus 19 (COVID-19) pandemic has affected all aspects of life, including the routine follow-up of patients with chronic illnesses. In this study, we aim to share our experience of telemedicine in our pediatric endocrinology clinic during the pandemic. Methods We were able to continue caring for children with endocrine disorders using various communication methods such as e-mail and e-message. Results A total of 267 patients received telemedicine care over the course of 608 contacts. The number of hospital visits and physical contact was effectively reduced to help protect against the COVID-19 infection. The patients were supported in terms of receiving their prescriptions and patient education also continued. No complications were observed. Conclusion The advantages and disadvantages of telemedicine were discussed and consequently, we propose that telemedicine can be utilized to maintain and continue the care of children with endocrine disorders during and even after the pandemic. Further studies are needed to standardize this method for general use.