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  • Küçük Resim
    Öğe
    Adrenocortical hormone profiles do not predict the molecular etiology in non-CAH primary adrenal insufficiency
    (Karger, 2021) Menevşe, Tuba Seve; Demirkol, Yasemin Kendir; Tosun, Büşra Gürpınar; Bayramoğlu, Elvan; Yıldız, Melek; Acar, Sezer; Karaca, Seda Erişen; Orbak, Zerrin; Önder, Asan; Sobu, Elif; Anik, Ahmet; Atay, Zeynep; Bugrul, Fuat; Demir, Korcan; Doğan, Durmuş; Emeksiz, Hamdi Cihan; Kırmızıbekmez, Heves; Murat, Nurhan Özcan; Yaman, Akan; Turan, Serap; Bereket, Abdullah; Güran, Tülay
    Primary adrenal insufficiency other than congenital adrenal hyperplasia (non-CAH PAI) is very uncommon in children but associated with a variety of molecular defects. Biosynthesis of adrenocortical hormones is reduced although the relation of steroid profiles with underlying molecular etiology is not yet studied. Objective: Investigation of clinical and steroid hormone profiles of a multicenter cohort of children with non-CAH PAI. Design: Patients with CAH, adrenoleukodystrophy, autoimmune adrenal insufficiency or obvious syndromic PAI on clinical and biochemical assessment were excluded. Genetic analysis was performed using either targeted gene panel or whole-exome sequencing. Plasma adrenal steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. Setting: Sixteen tertiary pediatric endocrinology clinics. Patients: Forty-one children (19 females, median age: 3 months, range: 0-8 years) with non-CAH PAI of unknown etiology. Results: A genetic diagnosis was obtained in 29 (68%) patients by targeted gene panel. Further molecular diagnosis could not be achieved by WES. The range of etiologies was: MC2R (n = 6), StAR (n = 6), NNT (n = 3), NR0B1 (n = 3), CYP11A1 (n = 2), MRAP (n = 2), SGPL1 (n = 2), ABCD1 (n = 1), AIRE (n = 1), AAAS (n = 1), HSD3B2 (n = 1). Steroid profiling demonstrated low levels in all adrenocortical steroid hormones irrespective of age and not varied among the genetic etiologies except two patients with new-onset symptoms of PAI due to homozygous c.518T>A(p.Leu173Gln) SGPL1, and hemizygous c.1772G>T(p.Arg591Leu) ABCD1 defects, and another patient with non-classic non-CAH PAI due to homozygous c.1351C>T (p.Arg451Trp) variant in CYP11A1. Compared to age-matched healthy control group in whom steroid hormone concentrations are physiologically low, the patient group had even lower steroid concentrations, most significantly in cortisone, cortisol, and corticosterone (P < 0.0001, area under the ROC curve: 0.96, 0.88, 0.87, respectively). Plasma cortisol<4 ng/ml, cortisone<11 ng/ml, and corticosterone<0.11 ng/ml had >95% specificity to segregate non-CAH PAI patients compared to control groups. Conclusion: Adrenocortical hormone profiles are highly sensitive for the diagnosis of non-CAH PAI, while, in contrast to CAH, they are unlikely to point out a specific molecular diagnosis. Targeted gene panel sequencing is an undisputed optimal approach in the molecular diagnosis of non-CAH PAI with low cost and high efficacy, while little additional benefit is expected from whole-exome sequencing. Further progress can be made, mainly by more collaboration and exchanging knowledge for delineation of rare causes of primary adrenal insufficiency.
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    Öğe
    COVID-19 Vaccine Hesitancy of Parents of Children with Type 1 Diabetes in Türkiye: A Mixed-Methods Study
    (AVES, 2023) Çelik, Taylan; Doğan, Durmuş
    Objective: 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 Çanakkale Onsekiz Mart University Hospital, Pediatric Endocrinology Clinic with the diagnosis of type 1 di-abetes. We used an online questionnaire to determine the attitudes of parents. Results: A total of 102 parents, 76 of whom were mothers, were included in the study. Mean age of the parents was 40.5 ± 7.27, and children were 12 ± 4.07. Mean duration elapsed since the diagnosis of type 1 diabetes was 4.5 ± 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 worried about their children being infected with COVID-19, did not think children with type 1 diabetes mellitus were more at risk, or were unvaccinated. Child-related factors were young age or short duration of illness. In qual-itative analysis, vaccination-hesitant parents’ main concern was vaccine side effects, and they expected clear evidence-based confidence-build-ing 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. © 2023 by Pediatric Infectious Diseases and Immunization Society.
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    Öğe
    Exploring Serum Vitamin D Binding Protein Levels in Type 1 Diabetes: Assessing the Impact of Glycemic Control and Disease Duration
    (2023) Özcan, Eda Gül; Doğan, Durmuş
    Aim: Patients with type 1 diabetes mellitus (T1DM) are known to be more prone to vitamin D deficiency. Vitamin D studies in this patient population have traditionally been performed using serum 25OHD levels. However, vitamin D binding protein (VDBP) has been less studied. This study aims to compare serum VDBP levels in T1DM with healthy controls. It also aims to investigate the factors affecting VDBP levels such as disease duration, HbA1c, insulin dose, and age in diabetic subjects. Material and Methods: A research study was conducted at Çanakkale Onsekiz Mart University Health Practice and Research Hospital. The study included 11-17 years old children with T1DM and healthy controls. Serum VDBP and 25OHD concentrations were compared with appropriate statistical methods according to the normal distribution of relevant parameters. For the diabetic subjects, insulin doses and duration of diabetes were recorded. Spearman’s correlation test was utilized to assess associations between continuous variables, and regression analysis was employed to determine predictors of serum VDBP levels. Results: The study enrolled 89 subjects, including 40 with diabetes. Serum 25OHD levels were similar in the T1DM group and control group (17.03 IQR:12.89-22.08) and (17.62 IQR:11.68-24.48), respectively (p=0.701). However, VDBP levels were significantly lower in the T1DM group (335 ?g/ml, IQR: 199.8-517.2 ?g/ml) compared to the control group (471.2 ?g/ml, IQR: 368.3-533.2 ?g/ml) (p < 0.015). In the entire group, only the presence of diabetes affected VDBP levels (B=87.236, SE=34.802, p=0.014). On the other hand, HbA1c, duration of diabetes, and insulin dose had no influence on VDBP in the diabetes group. Conclusion: Serum VDBP levels were significantly lower in T1DM patients but in this group, disease duration, insulin dose, and metabolic control did not affect serum VDBP levels. Serum VDBP concentrations in T1DM may be affected by other parameters rather than metabolic parameters. Therefore, future studies should focus on addressing this knowledge gap.
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    Öğe
    Tip 1 Diyabetes Mellituslu Olguların Tanı ve Tedavilerinin Retrospektif Değerlendirilmesi
    (2021) Aydoğan, Zeynep Karaca; Battal, Fatih; Doğan, Durmuş
    Amaç: Çanakkale ili ve çevresindeki Tip 1 Diabetes Mellitus (T1D) tanılı olguların demografik özelliklerinin, klinik ve laboratuvar bulgularının, başvuru anında diyabetik ketoasidoz (DKA) durumlarının ve aldıkları tedavilerin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntemler: Çanakkale Onsekiz Mart Üniversitesi Tıp Fakültesi Hastanesi Çocuk Sağlığı ve Hastalıkları kliniğine 01.04.2011- 01.04.2019 tarihleri arasında en az bir kez başvurmuş 0-18 yaş arası, 165 DM tanılı hasta dosyası retrospektif tarandı. Dosya kayıtları eksik 68 hasta, Tip 2 DM tanılı dört hasta, Gençlerde Görülen Erişkin Tipi Diyabet (MODY) tanılı bir hasta olmak üzere 73 hasta çalışma dışı bırakıldı, 92 hasta çalışmaya alındı. Bulgular: Olgularımızın %54,35’i kız, ortalama tanı yaşı 7,6±3,9 yaş idi. En sık tanı alınan mevsimler sonbahar (%32,6) ve kış (%30,43) oldu. Olgularımızın %52,17’sinin merkeze 0-50 km, %42,39’unun 50-100 km, %3,27’sinin 100-150 km, %2,17’sinin ise 150 km’den daha uzak mesafede olduğunu tespit ettik. Diyabetik ketoasidoz ile başvuran olgularımızı hafif, orta ve ağır DKA olarak sınıflandırarak, tedavilerinde uygulanan protokollere göre DKA’dan çıkış sürelerini kıyasladığımızda, her üç grupta da Uluslararası Çocuk ve Ergen Diyabet Derneği (ISPAD) 2018 protokolü uygulanan olguların DKA’dan daha kısa sürede çıktığını saptadık. Sonuç: Tip 1 diyabetiklerde DKA, hiperglisemi gibi akut ve retinopati, nefropati, nöropati, ateroskleroz gibi kronik komplikasyonlar görülebildiği için tanı ve takip önemlidir. Hastalığın bölgesel özelliklerinin araştırılması, etiyolojide önemli yer tutan genetik ve çevresel faktörler açısından yol göstericidir. Bizim çalışmamız Güney Marmara bölgesinde çocukluk çağı yaş grubunda T1D tanısı ile takip edilen olguların incelendiği ilk çalışmalardan biridir. Tespit ettiğimiz bulgular yapılan benzer çalışmaların sonuçları ve literatürle uyumludur.