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Öğe A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype(Oxford Univ Press, 2022) Cokyaman, Turgay; Cetin, Huriye; Dogan, Durmus; Sılan, FatmaNARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), which was not previously described in the phenotype spectrum of this disease. A 4.5-month-old girl presented with hearing loss, hypotonia, refractory myoclonic epilepsy, severe developmental delay and large subdural hemorrhage. In the first year of the follow-up, type 1 DM developed. A homozygous missense mutation, [c.500 A>G, p.H167R] in the NARS2 gene was detected in the trio-based whole-exome sequencing (WES). In this disease, in addition to multi-organ involvement, type 1 DM may also develop, as in our case. Since it is a mitochondrial disease, the decision to treat with valproic acid should be reconsidered. The long diagnostic process can be shortened with WES.Öğe COVID-19 Vaccine Hesitancy of Parents of Children with Type 1 Diabetes in Turkiye: A Mixed-Methods Study(Aves Yayincilik, Ibrahim Kara, 2023) Celik, Taylan; Dogan, DurmusObjective: In this study, we aimed to investigate the attitudes of parents who have children with type 1 diabetes mellitus to get their children vaccinated against COVID-19.Material and Methods: The target population of the study consisted of 124 parents of children followed in canakkale Onsekiz Mart Univer-sity Hospital, Pediatric Endocrinology Clinic with the diagnosis of type 1 diabetes. We used an online questionnaire to determine the attitudes of parents.Results: A total of 102 parents, 76 of whom were mothers, were includ-ed in the study. Mean age of the parents was 40.5 & PLUSMN; 7.27, and children were 12 & PLUSMN; 4.07. Mean duration elapsed since the diagnosis of type 1 diabetes was 4.5 & PLUSMN; 3.3 years. About half of the parents thought that type 1 diabetes mellitus was a risk factor for COVID-19. While the rate of parents who were not vaccinated for COVID-19 was 21.6%, 46.1% were hesitant to vaccinate their children. The parental-related factors causing vaccine hesitation were fathers, young parents, those who weren't wor-ried about their children being infected with COVID-19, did not think children with type 1 diabetes mellitus were more at risk, or were unvac-cinated. Child-related factors were young age or short duration of ill-ness. In qualitative analysis, vaccination-hesitant parents' main concern was vaccine side effects, and they expected clear evidence-based confi-dence-building recommendations for vaccination.Conclusion: In conclusion, it is seen that especially young parents, whose children are small or newly diagnosed, will have problems in their motivation about vaccination.Öğe Genetic influence on urinary vitamin D binding protein excretion and serum levels: a focus on rs4588 C>A polymorphism in the GC gene(Frontiers Media Sa, 2023) Dogan, Durmus; Ozcan, Eda Gul; Cakir, Dilek Ulker; Sılan, FatmaIntroductionVitamin D binding protein (VDBP) plays a crucial role in vitamin D transport and metabolism. The rs4588-A polymorphism of the GC gene, encoding VDBP, has been associated with altered serum VDBP and 25-hydroxyvitamin D (25OHD) levels. However, the mechanisms underlying these effects remain unclear. We aimed to investigate the relationship between urinary VDBP excretion and serum VDBP and 25OHD levels in individuals with and without the rs4588-A allele.MethodsA cross-sectional study was conducted on 109 children (mean age: 11.96 years) to explore the impact of rs4588-A on vitamin D metabolism and urinary VDBP excretion. Biochemical analyses determined serum 25OHD and VDBP levels, and urinary VDBP-to-creatinine ratio (u-VDBP/Cr). Genotyping for rs4588 SNP was performed using LightSNiP assay. Statistical analyses included correlation, linear regression, and comparison between allele groups.ResultsParticipants carrying the rs4588-A allele exhibited lower serum 25OHD levels compared to non-carriers (median (IQR): 11.85 (3.5) vs. 12.86 (4.9), p = 0.023). However, no statistically significant differences were observed in serum VDBP levels (126.34 +/- 59.3 in rs4588-A vs. 136.49 +/- 51.3 in non-rs4588-A, p = 0.141) or in u-VDBP/Cr (median (IQR): 0.4 (0.35) in rs4588-A vs. 0.386 (0.43) in non-rs4588-A, p = 0.189) between the two allele groups. A significant inverse correlation between u-VDBP/Cr and serum VDBP levels was found only in rs4588-A carriers (r = -0.367, p = 0.024). No such correlation was observed in non-carriers or the entire cohort. A linear regression analysis confirmed the impact of u-VDBP/Cr on serum VDBP levels in rs4588-A carriers (B = -0.269, t = -2.185, p = 0.035).ConclusionIndividuals with the rs4588-A allele in the GC gene had lower serum 25OHD levels. An inverse correlation between urinary VDBP excretion and serum VDBP levels was observed, suggesting a partial role of the renal pathway in altered serum VDBP and 25OHD levels linked to the rs4588-A allele.Öğe Patterns of Endocrine Disorders in a Neonatal Intensive Care Unit: A Single-Center Retrospective and Descriptive Study(Briefland, 2024) Candas, Gokay; Dogan, DurmusBackground: Endocrine disorders in infants in neonatal intensive care units (NICU) represent a significant clinical concern. Understanding the frequency and variety of these disorders is crucial for effective patient management. Objectives: This single-center retrospective study was conducted to examine the frequency and patterns of endocrine disorders among neonates in the NICU. Methods: We performed a retrospective review of 1 845 patient records over five years from the NICU at & Ccedil;anakkale Onsekiz Mart University Health Practice and Research Hospital. The study included patients admitted between January 1, 2016, and March 31,2021, who were diagnosed with endocrine disorders according to the international classification of diseases (ICD). Diagnostic criteria were used to identify and categorize endocrine disorders, primarily focusing on hypoglycemia, congenital hypothyroidism, hypothyroxinemia of prematurity, neonatal hyperthyrotropinemia (HTT), and disorders of calcium and magnesium metabolism. Data analysis was conducted using descriptive statistics. Results: Endocrine disorders were identified in 14.6% (CI: 13.15 - 16.38) of the neonates. The most prevalent were thyroid disorders(5.15%, CI: 4.23 - 6.25), disorders of calcium metabolism (3.68%, CI: 2.92 - 4.64), and disorders of glucose homeostasis (3.63%, CI: 2.87- 4.58). Notably, neonatal HTT was more frequent than previously reported. The majority of endocrine issues occurred in premature infants. Hypoglycemia was the most frequent glucose homeostasis disorder, affecting 24.7% (CI: 19.9 - 30.2) of those diagnosed with endocrine issues. Among the cases with calcium metabolism disorders, hypocalcemia was predominant (79.4%,CI: 68.3 - 87.3), with the majority (89%, CI: 80.1 - 95.9) being classified as early neonatal hypocalcemia. Conclusions: Endocrine disorders, particularly those related to thyroid, calcium, and glucose homeostasis, remain prevalent issues in the NICU. Prematurity significantly contributes to these complications. The frequency and variety of endocrine disorders are likely to evolve with improvements in laboratory techniques and diagnostic methods. Future larger-scale studies could provide more comprehensive insights into these disorders.Öğe Research trends on the gut microbiota in endocrine metabolism: a thematic and bibliometric analysis(Frontiers Media Sa, 2024) Dogan, Durmus; Celik, TaylanBackground Gut microbiota studies in the field of endocrinology metabolism have attracted increasing attention in recent years. To comprehensively assess the evolving landscape of this research field, we conducted a thorough bibliometric analysis of gut microbiota studies in endocrinology metabolism indexed in the Web of Science database.Methods We collected and analyzed 3,339 original research articles and reviews published from 1972 to 2023. Using various bibliometric indicators, we investigated publication trends, country contributions, international collaborations, prolific authors, top journals, and influential articles.Results Our analysis revealed a significant upsurge in publications after 2010, indicating a growing scientific interest in microbiota and endocrinology metabolism. Keyword and thematic analyses have identified gut microbiota, obesity, diabetes, and inflammation as core research themes. Additionally, the roles of probiotics and prebiotics are increasingly researched for their therapeutic effects in shaping the microbiota.Conclusion This study reveals that research in endocrinology metabolism is increasingly decoding the connection between gut microbiota and diseases. There's also a growing focus on microbiota manipulation, which points to a shift towards personalized medicine. Future research should focus on integrating these findings into clinical practice, moving from lab-based studies to real-world patient care.Öğe Revised one-bag IV fluid protocol for pediatric DKA: a feasible approach and retrospective comparative study(Oxford Univ Press, 2024) Dogan, Durmus; Gokalp, Hatice D. C.; Eren, Erdal; Saglam, Halil; Tarim, OmerBackground This study compared the effectiveness of the traditional and revised one-bag protocols for pediatric diabetic ketoacidosis (DKA) management. Methods This single-center retrospective cohort study included children diagnosed with DKA upon admission between 2012 and 2019. Our institution reevaluated and streamlined the traditional one-bag protocol (revised one-bag protocol). The revised one-bag protocol rehydrated all pediatric DKA patients with dextrose (5 g/100 ml) containing 0.45% NaCl at a rate of 3500 ml/m2 per 24 h after the first 1 h bolus of normal saline, regardless of age or degree of dehydration. This study examined acidosis recovery times and the frequency of healthcare provider interventions to maintain stable blood glucose levels. Results The revised one-bag protocol demonstrated a significantly shorter time to acidosis recovery than the traditional protocol (12.67 and 18.20 h, respectively; p < 0.001). The revised protocol group required fewer interventions for blood glucose control, with an average of 0.25 dextrose concentration change orders per patient, compared to 1.42 in the traditional protocol group (p < 0.001). Insulin rate adjustments were fewer in the revised protocol group, averaging 0.52 changes per patient, vs. 2.32 changes in the traditional protocol group (p < 0.001). Conclusion The revised one-bag protocol for pediatric DKA is both practical and effective. This modified DKA management achieved acidosis recovery more quickly and reduced blood glucose fluctuations compared with the traditional one-bag protocol. Future studies, including randomized controlled trials, should assess the safety and effectiveness of the revised protocol in a broad range of pediatric patients with DKA.Öğe The prevalence and prognostic effect of hyponatremia in children with COVID-19 pneumonia: a retrospective study(Turkish J Pediatrics, 2023) Celik, Taylan; Dogan, Durmus; Parlak, Cagri FurkanBackground. The aim of the study was to examine the effect of hyponatremia at admission as a negative prognostic factor in children hospitalized with COVID-19 pneumonia. Methods. The data of patients aged 1 month-18 years, who were followed with the diagnosis of pneumonia at Canakkale Onsekiz Mart University Hospital, Department of Pediatrics, between January 2018 and May 2021 were examined, retrospectively. Patients (n=661) were divided into two main groups; COVID-19 pneumonia (n=158) and the other pneumonias [other viral pneumonia (n=161) and pneumonia of unknown etiology (n=342)]. Results. Six hundred and twenty-three patients with a median (Q1-Q3) age of 4 (1.5-8) years, 59.4% of whom were male were included in the study. The overall prevalence of hyponatremia at admission was 11.2% and was lower in those with COVID-19 pneumonia than in those with other viral pneumonia (6.4% vs. 15.2%, p=0.013). When evaluated irrespective of their COVID-19 status, hyponatremic patients had a higher supplemental oxygen requirement (OR 2.5 [1.4-4.3], p 0.001), higher need for intensive care unit (ICU) admission (OR 3.7 [1.3-10.2], p=0.009) and longer duration of hospitalization (p=0.016) than the normonatremic patients. In patients with COVID-19 pneumonia, being hyponatremic had no effect on supplemental oxygen requirements or the duration of hospitalization. When hyponatremic patients were evaluated, the supplemental oxygen requirements and duration of hospitalization of those with COVID-19 pneumonia were similar to the other pneumonias (p 0.05 for all comparisons). However, normonatremic COVID-19 pneumonias had higher supplemental oxygen requirements than other viral pneumonias and pneumonia of unknown etiology (OR 4.7 [2.2-10.3], p<0.001; OR 1.6 [1 -2.7], p=0.043, respectively). Conclusion. This study found that hyponatremia at admission is rarer in children with COVID-19 pneumonia than other viral pneumonias and has no effect on supplemental oxygen requirements or the duration of hospitalization.
