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    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, Leman
    Abstract 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.
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    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 Hilal
    There 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.
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    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, Ayşehan
    Familial 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.