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Öğe Ana sınıfında veya ilkokulda okuyan tip 1 diabetes mellitus tanılı çocukların okulda hastalık yönetimi ile ilgili yaşadıkları sorunlar(2023) Çiftci, Nurdan; Çamtosun, Emine; Dündar, İsmail; Akıncı, AyşehanAmaç: Tip 1 diabetes mellitus (T1DM) tanılı çocuklar diyabet öz bakımında gözetime ihtiyaç duymaktadırlar ve günün önemli bir kısmını geçirdikleri okuldaki koşullar hastalık yönetimini etkilemektedir. Bu çalışmanın amacı, T1DM tanılı ana sınıfı ve ilkokul çağındaki çocukların okulda hastalık yönetimi ile ilgili karşılaştıkları sorunları ortaya koymaktır. Gereç ve Yöntem: Bu kesitsel çalışmaya T1DM tanılı 5-10 yaş aralığındaki 50 hasta dahil edildi. Literatür doğrultusunda araştırmacı tarafından geliştirilen okulda diyabet yönetimiyle ilgili anket, Google anket formu aracılığıyla hasta ve/veya ebeveynleri tarafından dolduruldu. Elde edilen veriler tanımlayıcı istatistiksel yöntemlerle analiz edildi. Bulgular: Hastaların ortalama diyabet süreleri 5,39±2,56 yıldı. Olguların %94’ü devlet okuluna gidiyordu. Okulların %78’inde sağlık bakım odası, %92’sinde hemşire/sağlık personeli yoktu. Olguların %86’sı okulda ana öğün alıyordu, ancak bunların büyük çoğunluğu öğününü evden getiriyor veya eve gidip yiyordu. Beslenme ile ilgili en sık sorun okulda diyete uygun olmayan gıdaların tüketilmesiydi. Çocukların %6’sında okulda kan şekeri ölçümü yapılmıyordu. Okulda hipoglisemi yaşamış olanların sıklığı %40 olup en sık müdahale eden kişi öğretmendi (%55). Okulda insülin uygulanan çocukların %77,5’inde uygulamayı anne veya baba yapıyordu. İnsülin uygulamada yaşanan en sık sorunlar okulda uygulayabilecek kişinin ve uygun ortamın olmaması idi. Beden eğitimine katılım %98’di. Çocuklar öğretmen ve okul yönetiminden yüksek oranda olumlu yaklaşım görürken, %18 çocuk, arkadaşlarının olumsuz yaklaşımına maruz kalmaktaydı. Sonuç: T1DM tanılı çocuklar okulda beslenme, kan şekeri ölçümü ve insülin uygulama konularında zorluklar yaşamaktadırlar. Okullarda sağlık bakım odası ve/veya sağlık personeli çoğunlukla bulunmamaktadır. Okulda insülin uygulama konusunda deneyimli kişi olmaması nedeniyle bunu genellikle ebeveynler yapmaktadır.Öğe Change in clinical presentation at admission in children with newly diagnosed type 1 diabetes during the COVID-19 pandemic in the eastern region of Turkey(2022) Dündar, İsmail; Akıncı, Ayşehan; Çamtosun, Emine; Çiftçi, Nurdan; Kayaş, LemanAbstract Aim: The COVID-19 pandemic is a global health problem with high morbidity and mortality. This study aimed to compare the clinical features of newly diagnosed type 1 diabetes (T1D) patients during the pandemic with those diagnosed earlier and evaluate how the pandemic affected the T1D clinical findings on admission. Materials and Methods: This is a 2-year, single-center, cross-sectional study. The time between March 11, 2019, and March 11, 2020, was defined as the “pre-pandemic period,” while the interval between March 11, 2020, and March 11, 2021, was called the “pandemic period.” The clinical and laboratory parameters of newly diagnosed T1D patients admitted in these two time periods were compared. Results: The admission rate with DKA was higher in the pandemic period than in the pre-pandemic time (71.0% and 52.8%, respectively, p=0.046). There was no difference between the groups regarding the severity of DKA. The mean duration of diabetes symptoms before diagnosis was longer during the pandemic than in the pre-pandemic period (17.0 days and 12.5 days, respectively, p=0.035). Conclusion: Delayed admissions to health institutions of patients with diabetes signs and symptoms during the pandemic are worrisome. This delay is likely to have increased the DKA rate during the pandemic. As a result, children with diabetes symptoms should be ensured to apply to a health institution without hesitation, even in the pandemic.Öğe The Effectiveness of Cinacalcet as an Adjunctive Therapy for Hereditary 1,25 Dihydroxyvitamin D-Resistant Rickets(2017) Akıncı, Ayşehan; Dündar, İsmail; Kıvılcım, MeltemHigh doses of oral calcium or long-term calcium infusions are recommended to correct the hypocalcemia and secondary hyperparathyroidism in patients with hereditary 1,25 dihydroxyvitamin D3-resistant rickets (HVDRR). Preliminary studies revealed that calcimimetics may be a safe and effective therapeutic choice in children with secondary hyperparathyroidism. Our aim was to observe the efficacy of cinacalcet in the normalization of secondary hyperparathyroidism and hypophosphatemia in two siblings aged 2.5 years and 6 months with HVDRR who did not respond to traditional treatment regimes. Both patients were admitted to the hospital with severe hypocalcemia. They were treated with high doses of calcitriol and calcium infusions intravenously. Secondary hyperparathyroidism was normalized temporarily, but did not improve completely. Cinacalcet (0.25 mg/kg) once a day along with the high doses of oral calcium and calcitriol was added to the treatment schedule. After 3 months, biochemical and radiologic findings reverted to normal. Our findings indicate that cinacalcet is effective in normalizing the hyperparathyroidism and hypophosphatemia in these cases and in improving the bone pathology.Öğe Evaluation of endocrine functions before and after enzyme replacement therapy in children with mucopolysaccharidosis(2022) Dündar, İsmail; Çiftçi, Nurdan; Akıncı, Ayşehan; Çamtosun, Emine; Kayaş, Leman; Sığırcı, Ahmet; Yağın, Fatma HilalThere is a scarcity of data concerning endocrine function and the effects of enzyme replacement therapy (ERT) on growth and other endocrine functions in patients with mucopolysaccharidosis (MPS). This study retrospectively evaluated height increase, bone mineral density (BMD), and other endocrine functions in MPS patients who received ERT for at least two years in our clinic. The clinical findings, hormonal analysis (TSH, fT4, ACTH, cortisol, FSH, LH, testosterone, estradiol, prolactin, GH, IGF-1, IGFBP-3), and BMD measurements of 10 MPS patients, aged 0-18 years, before and after ERT were recorded and compared retrospectively. Four patients were MPS Type-2, five were MPS Type-4, and one was MPS Type-6. Nine of the patients were male, and one was female. The mean treatment onset age was 7.6 years. The mean ± standard deviation of the patients' height SDS was -4.61±3.01 before treatment and -5.65±2.42 after treatment. While the mean BMD Z-score of the patients was -2.33±1.77 before treatment, it was -0.94±1.52 after treatment. Apart from growth retardation (one of the most prominent disease features), no severe dysfunction was detected in other endocrine organs in our patients with MPS. Severe short stature was evident at the time of diagnosis in MPS patients, and their height SDS worsened, despite ERT. However, osteoporotic BMD Z-scores at diagnosis improved after ERT. No serious dysfunction was seen in other endocrine organs.Öğe A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene(2022) Dündar, İsmail; Çamtosun, Emine; Doğan, Mustafa; Kayaş, Leman; Çiftçi, Nurdan; Akıncı, AyşehanFamilial hypocalciuric hypercalcemia (FHH) is a benign disease associated with heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene. This article presents a girl with heterozygous p.Cys575Tyr variation in the CaSR gene. The serum calcium level of a 9.2-year-old girl was 12.4mg/dl in incidental laboratory analysis. On the same occasion, the serum parathyroid hormone (PTH) level was 45 pg/ml, 25(OH) vitamin D level 24.2ng/ml, 1.25 dihydroxy vitamin D level 22pg/ml, and urinary Ca/creatinine ratio <0.01. The ultrasonographic evaluation of the urinary system was unremarkable. The clinical and laboratory findings pointed towards FHD. A heterozygous p.Cys575Tyr (c.1724G>A) variation was detected in the patient's CaSR gene, which was reported before, but no clinical manifestations were specified. In children with asymptomatic hypercalcemia, the diagnosis of FHH should be considered if the PTH level is normal or high and the urinary calcium is low.Öğe Incidental cause of mild hyperglycemia in children: Genetic, clinical, and follow-up features of glucokinase-MODY diabetes(2023) Dündar, İsmailAim: This study aimed to present the genetic, clinical, and follow-up data of our pa- tients diagnosed with glucokinase (GCK)-MODY. Type 2 Maturity Onset Diabetes of the Young (MODY) is a monogenic disease characterized by fasting hyperglycemia resulting from impaired insulin secretion. It constitutes the vast majority of cases with monogenic diabetes. Materials and Methods: In the study, clinical, follow-up, and genetic data of 13 patients who were followed up with the diagnosis of MODY type 2 diabetes and had mutations in the GCK gene in their molecular analyses were studied. GCK whole gene sequence analysis was performed with Sanger sequencing. Results: The age at diagnosis was median 11.0 years (range: 2.5–16.9). High blood sugar was the most common reason for admission (84.6%). At the time of diagnosis, the patients’ mean blood sugar was 137.0±52.4 mg/dL, insulin 6.1±2.8 mU/L, c-peptide 1.4±0.6 ng/mL, triglyceride 106.1±42.3 mg/dL, and cholesterol 154.0±19.0 mg/dL. While HbA1c was 6.3±0.4 at the time of diagnosis, it was 6.2±0.4 at the end of the mean 5-year follow-up (p=0.073). Molecular analysis revealed the most common variant as c.565A>G (p.I189Val) (53.8%). In all cases, glucose levels were regulated by diet and exercise, and there was no need for insulin. Conclusion: Incidental blood glucose elevation was an important finding in diagnosing GCK-MODY. With the molecular diagnosis of these patients, clinical follow-ups, treat- ment plans, and long-term prognoses can be planned more accurately. Therefore, in doubtful cases, the genetic diagnosis should be confirmed by sequencing the GCK gene.Öğe Nutrisyonel Raşitizmde D Vitamini Profilaksisi Programının Sürdürülebilirliğinin Önemi Üzerine Bir Araştırma(İnönü Üniversitesi, 2020) Çamtosun, Emine; Akıncı, Ayşehan; Çelik, Nurullah; Dündar, İsmailÖz: Giriş-Amaç: Türkiye’de, çocuklarda D vitamini eksikliğinin ve nutrisyonel raşitizmin (NR) önlenmesi amacıyla 2005 yılında başlatılan proje ile bebeklere ilk 12 ay ücretsiz D vitamini sağlanmış ve sonuçta üç yaş altı raşitizm sıklığında belirgin azalma görülmüştür. Ancak günümüzde halen NR vakaları saptanmakta ve bu vakaların D vitamini profilaksisi kullanmadığı görülmektedir. Materyal-Metod: Bu çalışmada Ocak 2013-Nisan 2018 tarihleri arasında Malatya’da iki Çocuk Endokrin ünitesinde tanı alan üç yaş altı 36 olgu başvuru şikayetleri, fizik muayene, laboratuvar ve görüntüleme bulguları ve aldıkları tedaviler ile sunulmuştur. Bulgular: Olguların %25’i (9/36) son dört ayda tanı almıştır. Olguların tümünde D vitamini düzeyi ?12,4 ng/mL’dir, ortalama 3,8±2,5 ng/mL. D vitamini profilaksisi sorgulanan 30 hastadan 16’sı hiç profilaksi almamış, 14’ü ise düzensiz almıştır. Sonuç: Kliniğimize başvuran NR vakalarının son yıllarda artması profilaksi programının başlangıçtaki kadar sıkı takip edilmediğine işaret ediyor olabilir. D vitamini profilaksisinin öneminin ve etkinliğinin hekimlerimizce kavranması, programın sıkı bir şekilde takip edilmesi, ailelerin uygun bir şekilde bilgilendirilerek programa dahil edilmesi ile program canlandırılacak ve etkinliği artırılacaktır.
