Hacettepe Üniversitesi Açık Erişim Sistemi (HÜAES)
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KRONİK OBSTRÜKTİF AKCİĞER HASTALIĞI FENOTİPLENDİRMESİ: ATOPİNİN ÖNEMİ
(Tıp Fakültesi, 2025) Gamze Göktaş; Göğüs Hastalıkları
Goktas, G., Chronic Obstructive Pulmonary Disease Phenotyping: The Importance of Atopy Hacettepe University, Faculty of Medicine, Thesis for Speciality in Pulmonology, Ankara, 2025. Chronic obstructive pulmonary disease (COPD) stands as a major respiratory condition marked by diverse clinical features, calling for tailored treatment strategies. The goal of this research was to assess how common type 2 inflammation is among COPD patients and to contrast those with type 2 inflammation (type 2 COPD) against those without it (non-type 2 COPD) based on demographics, clinical signs, treatment regimens, exacerbation rates, and overall disease severity. This investigation involved 215 COPD patients monitored at the Chest Diseases Outpatient Clinic of Hacettepe University Faculty of Medicine. Participants were categorized into the type 2 inflammation group if their blood eosinophil count reached ≥300 cells/µL, if atopy was detected, or if those with counts ≥150 cells/µL showed use of high-dose inhaled corticosteroids alongside symptoms of seasonal allergic rhinitis. Evaluations included pulmonary function tests (PFTs), symptom assessments (mMRC, CAT, SGRQ), treatment approaches, histories of exacerbations, associated conditions, imaging results, and lab values. Data analysis relied on SPSS software, deeming differences significant at p<0.05. Results indicated type 2 inflammation in 56% of cases. Among the type 2 COPD cohort, inhaled corticosteroid (ICS) use—especially at higher doses—and combinations with long-acting beta-agonists (LABA) were notably more frequent (p<0.05). Exacerbation occurrences, along with antibiotic and systemic steroid prescriptions, appeared elevated in type 2 COPD, though these trends approached but did not fully reach statistical significance. Within the GOLD E category, bronchiectasis and audible rales were more prevalent in patients exhibiting type 2 inflammation (p<0.05). No meaningful variances emerged in symptom scores or spirometry measures across groups. Atopy prevalence stood at 10%. Overall, type 2 inflammation emerges as a frequent subtype in COPD, linked to better responses to ICS and heightened exacerbation risks. While atopy aids in classifying COPD phenotypes, it plays a less central role than eosinophilia. These insights highlight the value of biomarker-guided, individualized therapies for managing COPD. Moving forward, research should emphasize long-term monitoring and collaborative efforts across multiple sites to strengthen these observations.
İnternette Doğmuş Halkbilimi Ürünlerinin Metin Merkezli İncelenmesi: Caps Örneği
(Sosyal Bilimler Enstitüsü, 2025) Kuşku, Nida; Türk Halkbilimi
This study aims to examine capses, a folklore product born in the internet environment, through a text-based approach. It questions how the historical-geographical method (HGM), developed by the Finnish School in the 19th century, can be adapted to cultural environment of the internet for the purpose of analysing internet-based folklore products. The study addresses how the unique archival nature of the internet can be utilized in obtaining folklore data and conducting text-based analysis. While HGM seeks to analyse folk narratives based on their historical, geographical, and structural features, the internet folklore research method developed in this study demonstrates how a similar analytical approach can be applied to the internet products. This method was successfully implemented on folklore products that emerged in online platforms. In this context, the production and dissemination environments of capses, their formal characteristics, and their circulation dynamics were examined, and their ur-forms (basic form) were identified. The recorded nature of the internet, combined with archival studies and compilations carried out in collaborative dictionaries, forums, and other platforms, allowed for the identification of the earliest capses and even their pre-formation stages. The methodology used in the study enabled access to data where textual and visual elements could be examined simultaneously. Furthermore, the study showed that visual folklore products can also be systematically analysed using text-centered methods, and that their basic forms can indeed be identified. The limitations of HGM regarding the identification of basic forms—one of its key criticisms—have been overcome thanks to the recorded nature of internet culture. The evolutional sequence of capses was revealed in detail, and their visual content could be traced back to their moment of creation, allowing access to the earliest examples in their structural lineage. This study is also the first in academia to address capses in such a comprehensive manner. Although the main focus is text-based analysis, the formal properties of capses, the profiles of their producers and consumers, their creation and dissemination dynamics, and the characteristics of the internet environment that enables their emergence to have been summarized to contribute both to the understanding and historical documentation of caps culture. While offering a methodological contribution to internet-centered folklore research, this study also draws attention to the cultural significance of capses, a folklore product that is now nearly obsolete. It demonstrates that the internet can be used effectively in folklore research and that products like capses can be located within cultural history through systematic methods.
ULUSAL YENİDOĞAN TARAMA PROGRAMI İLE KONJENİTAL HİPOTİROİDİ TANISI ALARAK İZLEMDE KALICI VE GEÇİCİ KONJENİTAL HİPOTİROİDİ TANIMLANAN OLGULARIN RETROSPEKTİF DEĞERLENDİRİLMESİ
(Tıp Fakültesi, 2026-03-18) Çağla Bengü VURAL; Çocuk Sağlığı ve Hastalıkları
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder characterized by thyroid hormone deficiency. Newborn screening enables early diagnosis and treatment. Recently, lowering of screening cut-offs has increased the detection of permanent CH, however it also led to a substantial rise in transient cases, resulting in prolonged levothyroxine treatment until three years of age, when transient/permanent differentiation is typically established. This challenge is particularly pronounced in iodine-deficient populations. The present study aimed to identify clinical predictors that enable earlier differentiation between transient and permanent CH in patients diagnosed through newborn screening. We retrospectively analyzed the clinical, demographic, imaging, and laboratory characteristics of patients diagnosed with CH through the national newborn screening program between December 2006 and December 2024, who underwent transient/permanent differentiation at approximately three years of age. Patients with definitive permanent etiologies, such as thyroid agenesis or ectopy, were excluded; only patients with in situ thyroid gland were included. Odds ratios (OR) were calculated for potential predictors, and significant parameters in multiple logistic regression were further evaluated using receiver operating characteristic (ROC) analysis. Among the 244 patients included (106 females, 43.4%), 179 (73.4%) were classified as transient CH and 65 (26.6%) as permanent CH. The most powerful predictors of permanent CH were a levothyroxine dose >1.8 μg/kg/day (OR: 174.1; 95% CI: 12.2-2474.9; p<0.001), and a TSH level >3.3 mIU/L (OR: 172.2; 95% CI: 11.2-2652.5; p<0.001) at two years of age. Initial serum TSH level >72 mIU/L at diagnosis was also independently associated with permanent CH (OR: 7.15; 95% CI: 1.02-50.14; p=0.048). Levothyroxine dose and TSH levels at one year of age were also associated with permanent CH, albeit with lower effect sizes. Notably, all patients with a thyroid volume below -2 SDS on ultrasonography were classified as permanent CH. In conclusion, levothyroxine dose requirements and TSH levels during follow-up emerge as the strongest predictors for distinguishing permanent from transient CH in patients with a eutopic thyroid gland when there are no definitive structural abnormalities on imaging. This could potentially allow for earlier and more individualized treatment decisions to be made.
Mitokondriyal Hastalık Tanılı Hastaların Semptom ve Bulgularının Mitokondriyal Hastalık Tanı Kriterleri ile Değerlendirilmesi
(Tıp Fakültesi, 2026-02-12) Yıldız Sezen; Çocuk Sağlığı ve Hastalıkları
Yıldız S. Evaluation of Symptoms and Findings of Patients Diagnosed with Mitochondrial Disease According to Mitochondrial Disease Diagnostic Criteria. Hacettepe University Faculty of Medicine, Department of Pediatrics, Ankara, 2026. Mitochondrial diseases constitute a genetically and phenotypically heterogeneous group of disorders resulting from mutations in mitochondrial DNA or nuclear DNA encoding structural and functional mitochondrial proteins. As mitochondria are present in nearly all cells except mature erythrocytes and play a central role in cellular energy metabolism, mitochondrial dysfunction may affect multiple organs and systems throughout the body. Tissues with high energy demand, particularly the brain, skeletal muscle, heart, and eyes, are most frequently involved. Clinical manifestations vary widely and may include developmental delay, developmental regression, seizures, encephalopathy, hypotonia, and visual or hearing impairment, making the diagnosis of mitochondrial diseases particularly challenging. The aim of this study was to evaluate the clinical, laboratory, imaging, histopathological, and genetic findings of patients followed with a diagnosis of mitochondrial disease at Hacettepe University İhsan Doğramacı Children’s Hospital. Patients were assessed for multisystem involvement according to established diagnostic criteria for mitochondrial diseases and were classified as unlikely, possible, probable, or definite cases. Among the 144 patients included in the study, three were classified as unlikely, twenty-eight as possible, fifty-seven as probable, and fifty-six as definite mitochondrial disease cases. When compared with the remaining patient groups, the definite case group showed significantly higher rates of mortality, multisystem involvement, muscle weakness, history of seizures and migraine, dysphagia, failure to thrive, hepatomegaly, optic neuropathy, and optic atrophy. In addition, statistically significant differences were observed between groups with respect to elevated serum lactate, creatine kinase, alanine, lactate/pyruvate ratio, and alanine aminotransferase levels; increased urinary excretion of lactate, pyruvate, and dicarboxylic acids on organic acid analysis; abnormal cranial magnetic resonance imaging findings including basal ganglia signal changes, stroke-like lesions, and cerebral atrophy; as well as the presence of a lactate peak on cranial magnetic resonance spectroscopy. Genetic confirmation was achieved in 33 of the 56 patients classified as definite cases. Evaluation of this genetically confirmed subgroup revealed genotype–phenotype correlations consistent with previously reported cases in the literature. Due to their heterogeneous clinical presentation and potential to affect multiple organ systems simultaneously, mitochondrial diseases require a multisystemic and multidisciplinary diagnostic approach. The rational integration of rapidly evolving next-generation genetic diagnostic methods with established clinical diagnostic criteria has the potential to significantly shorten the diagnostic process. Prioritizing this comprehensive approach in clinical practice may contribute substantially to early diagnosis, appropriate follow-up, and effective genetic counseling.
ÇOCUKLARDA PARASETAMOL ZEHİRLENMESİ DIŞINDA AKUT KARACİĞER HASARINDA N-ASETİL SİSTEİN KULLANIMI
(Tıp Fakültesi, 2026) Ömer Faruk Gurbetoğlu; Çocuk Sağlığı ve Hastalıkları
Gurbetoğlu Ö., Use of N-Acetylcysteine in Acute Liver Injury Other Than Paracetamol Poisoning in Children. Hacettepe University Faculty of Medicine Department of Pediatrics, Residency Thesis, Ankara, 2026. Available data regarding the effects of N-acetylcysteine (NAC) therapy on the clinical and biochemical course of pediatric acute liver failure (ALF) are limited and heterogeneous. The present study aimed to longitudinally evaluate response dynamics to NAC therapy, as well as the impact of cholestasis and the underlying mechanism of liver injury on prognosis in non-paracetamol pediatric ALF. In this single-center retrospective cohort study, 86 pediatric patients with ALF followed at a tertiary referral center were included. Patients were stratified according to the presence of cholestasis, response to NAC therapy, and the mechanism of liver injury. Longitudinal changes in model end stage liver disease (MELD) and pediatric end stage liver disease (PELD) scores, INR, ALT, direct bilirubin, lactate, and phosphate levels were analyzed using linear mixed models. Multiorgan failure, need for extracorporeal therapies, and survival outcomes were also assessed. The mean age of the patients was 6.68 ± 5.96 years, with a median age of 4.35 years (IQR: 1.74–11.30). A total of 39.5% of patients clustered within the 1–5.5-year age range. Secondary liver injury accounted for 40.7% of cases. At least one chronic disease or comorbidity was present in 38.4% of patients, with cardiac diseases being the most common (22.1%). Viral etiologies were detected in 20.9% of cases by respiratory panels and in 18.6% by serological tests. At least one extrahepatic organ failure was observed in 75.6% of patients, with 44.2% experiencing two or more organ failures. During follow-up, 53.5% needed inotropic support, 38.4% required mechanical ventilation, and 50.0% received broad-spectrum antibiotics. Renal failure was present in 32.6% of cases, and 57% of these patients needed continuous renal replacement therapy (CRRT). Overall, 39.5% of patients (n=34) received at least one extracorporeal treatment. The most used was therapeutic plasma exchange (TPE) (33.7%), followed by CRRT (18.6%), hemodialysis (8.1%), and extracorporeal membrane oxygenation (ECMO) (5.8%). Among TPE patients, the mean number of sessions was 6, with a median of 3. One, two, and three modalities were used in 18.6%, 12.8%, and 8.1% of patients, respectively. Data on hepatic encephalopathy (HE) grading were available for 23.3% of patients (n = 20), of whom 52.7% were classified as having advanced HE (grades 3–4). Overall mortality rate was 24.4% (n = 21), with non-survivors having a median age of 2.3 years. Among non-survivors, 85.7% experienced extrahepatic organ failure, and 38% having four organ system failures. Renal failure occurred in 47.6%, inotropic support was administered to 81%, and 57% required mechanical ventilation. In linear mixed models, cholestasis was associated with a significant increase in MELD/PELD score (+8.61 points; p<0.001), whereas time had a significant main effect on trajectories of INR, ALT, and bilirubin (p<0.001 for all). NAC therapy was associated with improved spontaneous survival in patients with toxic hepatitis and secondary liver injury, warranting further prospective evaluation. Models demonstrated high overall explanatory power for the combined fixed and random effects, indicating that interindividual heterogeneity substantially influenced the clinical course. These findings support the adoption of longitudinal, comprehensive, and etiology-driven monitoring strategies rather than static assessment approaches in the management of pediatric ALF, and underscore the need for further prospective, controlled studies to more clearly define the role of NAC therapy in this population.