Publications with Fulltext
Permanent URI for this collectionhttps://hdl.handle.net/20.500.14288/6
Browse
159 results
Search Results
Publication Open Access Recommendations for clinical decision-making in children with type 1 diabetes and celiac disease: type 1 diabetes and celiac disease joint working group report(Galenos Yayınevi, 2022) Dalgıç, B.; Gökşen, D.; Aydoğdu, S.; Savaş, Erdeve Ş.; Kuloğu, Z.; Doğan, Y.; Aycan, Z.; Keser, A.; Beşer, Ö.F.; Özbek, M.N.; Bideci, A.; Ertem, D.; Evliyaoğlu, O.; Eliüz Tipici, B.; Gökçe, T.; Muradoğlu, S.; Koca, T.; Tütüncüler, F.; Baş, F.; Darendeliler, F.; Selimoğlu, M.A.; Hatun, Şükrü; Yeşiltepe Mutlu, Rahime Gül; Kızılkan, Nuray Uslu; Taşkın, Orhun Çığ; Faculty Member; Faculty Member; Faculty Member; School of Medicine; Koç University Hospital; 153504; 153511; 221274; 166686It is well-known that in children with type 1 diabetes (T1D), the frequency of Celiac disease (CD) is increased due to mechanisms which are not fully elucidated but include autoimmune injury as well as shared genetic predisposition. Although histopathologic examination is the gold standard for diagnosis, avoiding unnecessary endoscopy is crucial. Therefore, for both clinicians and patients’ families, the diagnosis of CD remains challenging. In light of this, a joint working group, the Type 1 Diabetes and Celiac Disease Joint Working Group, was convened, with the aim of reporting institutional data and reviewing current international guidelines, in order to provide a framework for clinicians. Several controversial issues were discussed: For CD screening in children with T1D, regardless of age, it is recommended to measure tissue transglutaminase-immunoglobulin A (tTG-IgA) and/or endomysial-IgA antibody due to their high sensitivity and specificity. However, the decision-making process based on tTG-IgA titer in children with T1D is still debated, since tTG-IgA titers may fluctuate in children with T1D. Moreover, seronegativity may occur spontaneously. The authors’ own data showed that most of the cases who have biopsy-proven CD had tTG-IgA levels 7-10 times above the upper limit. The decision for endoscopy based solely on tTG-IgA levels should be avoided, except in cases where tTG-IgA levels are seven times and above the upper limit. A closer collaboration should be built between divisions of pediatric endocrinology and gastroenterology in terms of screening, diagnosis and follow-up of children with T1D and suspicious CD.Publication Open Access Mutations in AR or SRD5A2 genes: clinical findings, endocrine pitfalls, and genetic features of children with 46,XY DSD(Galenos Yayınevi, 2022) Akcan, Neşe; Uyguner, Oya; Baş, Firdevs; Toksoy, Güven; Karaman, Birsen; Abalı, Zehra Yavaş; Poyrazoğlu, Şükran; Aghayev, Agharza; Karaman, Volkan; Bundak, Ruveyde; Basaran, Seher; Darendeliler, Feyza; Altunoğlu, Umut; Avcı, Şahin; Faculty Member; Faculty Member; School of Medicine; 126174; N/AObjective: androgen insensivity syndrome (AIS) and 5 alpha-reductase deficiency (5 alpha-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in the prepubertal period. The aim was to evaluate the clinical, hormonal and genetic findings of 46,XY DSD patients who were diagnosed as AIS or 5 alpha-RD. Methods: patients diagnosed as AIS or 5 alpha-RD according to clinical and hormonal evaluations were investigated. Sequence variants of steroid 5-alpha-reductase type 2 were analyzed in cases with testosterone/dihydrotestosterone (T/DHT) ratio of >= 20, whereas the androgen receptor (AR) gene was screened when the ratio was <20. Stepwise analysis of other associated genes were screened in cases with no causative variant found in initial analysis. For statistical comparisons, the group was divided into three main groups and subgroups according to their genetic diagnosis and T/DHT ratios. Results: a total of 128 DSD patients from 125 non-related families were enrolled. Birth weight SDS and gestational weeks were significantly higher in 5 alpha-RD group than in AIS and undiagnosed groups. Completely female phenotype was higher in all subgroups of both AIS and 5 alpha-RD patients than in the undiagnosed subgroups. In those patients with stimulated T/DHT <20 in the prepubertal period, stimulated T/DHT ratio was significantly lower in AIS than in the undiagnosed group, and higher in 5 alpha-RD. Phenotype associated variants were detected in 24% (n=18 AIS, n=14 5 alpha-RD) of the patients, revealing four novel AR variants (c.94G>T, p.Glu32*, c.330G>C, p.Leu110=; c.2084C>T, p.Pro695Leu, c.2585_2592delAGCTCCTG, p.(Lys862Argfs*16), of these c.330G>C with silent status remained undefined in terms of its causative effects. Conclusion: T/DHT ratio is an important hormonal criterion, but in some cases, T/DHT ratio may lead to diagnostic confusion. Molecular is for the robust of 46,XY DSD Four novel AR variants were identified in our study.Publication Open Access Assessment of the optic nerve, optic disc, and perineural area using shear-wave elastography in patients with multiple sclerosis(Wiley, 2021) Şahin Ediz, Suna; Atalay, Başak; Aydın Cantürk, İlknur; Kabaalioğlu, Adnan; Faculty Member; Koç University HospitalPurpose: to observe and describe the stiffness changes of the optic nerve in the patients with multiple sclerosis (MS) with or without optic neuritis and healthy adults via shear wave elastography (SWE). Methods: 70 optic nerves from 35 patients with MS and 60 optic nerves from 30 healthy subjects were included prospectively in the study. The optic nerve (ON), optic disc (OD), and perineural area were evaluated with SWE and optic nerve sheat diameter (ONSD) was measured by ultrasound. Results: The mean age of patients was 39.68 +/- 9.99 years. There was no statistically significant difference between the groups in terms of ONSD, SWE ON, SWE OD, and SWE perineural area levels (P > .05). In the MS group; No statistically significant difference was found between patients with and without optic neuritis for the mean age, gender distribution, duration of MS, types of MS, ONSD, SWE ON, SWE OD, SWE perineural area, and Expanded Disability Status Scale (EDSS) scores (P > .05). No statistically significant difference in terms of ONSD, SWE ON, SWE OD, and SWE perineural area between the MS patients with or without optic neuritis and the control group (P > .05). Conclusion: shear wave elastography measurements of the optic nerve, optic disc, and perineural area do not contribute to the evaluation of optic neuritis in a patient with MS.Publication Open Access COVID-19 in kidney transplant recipients: a multicenter experience in Istanbul(Wiley, 2020) Demir, Erol; Uyar, Murathan; Parmaksız, Ergün; Sinangil, Ayşe; Dirim, Ahmet Burak; Merhametsiz, Özgür; Yadigar, Serap; Atan Uçar, Zuhal; Uçar, Ali Rıza; Demir, Mehmet Emin; Meşe, Meral; Akın, Emin Barış; Garayeva, Nurana; Şafak, Seda; Oto, Özgür Akın; Yazıcı, Halil; Yelken, Berna; Türkmen, Aydın; Doctor; School of MedicineIntroduction: Management of COVID-19 in kidney transplant recipients should include treatment of the infection, regulation of immunosuppression, and supportive therapy. However, there is no consensus on this issue yet. This study aimed to our experiences with kidney transplant recipients diagnosed with COVID-19. Material and Methods: Kidney transplant recipients diagnosed with COVID-19 from five major transplant centers in Istanbul, Turkey, were included in this retrospective cohort study. Patients were classified as having moderate or severe pneumonia for the analysis. The primary endpoint was all-cause mortality. The secondary endpoints were acute kidney injury, the average length of hospital stay, admission to intensive care, and mechanical ventilation. Results: Forty patients were reviewed retrospectively over a follow-up period of 32 days after being diagnosed with COVID-19. Cough, fever, and dyspnea were the most frequent symptoms in all patients. The frequency of previous induction and rejection therapy was significantly higher in the group with severe pneumonia compared to the moderate pneumonia group. None of the patients using cyclosporine A developed severe pneumonia. Five patients died during follow-up in the intensive care unit. None of the patients developed graft loss during follow-up. Discussion: COVID-19 has been seen to more commonly cause moderate or severe pneumonia in kidney transplant recipients. Immunosuppression should be carefully reduced in these patients. Induction therapy with lymphocyte-depleting agents should be carefully avoided in kidney transplant recipients during the pandemic period.Publication Open Access The influence of ecological traits and environmental factors on the co-occurrence patterns of birds on islands worldwide(Wiley, 2020) Sato, Eri; Kusumoto, Buntarou; Kubota, Yasuhiro; Murakami, Masashi; Department of Molecular Biology and Genetics; Şekercioğlu, Çağan Hakkı; Faculty Member; Department of Molecular Biology and Genetics; College of SciencesTo understand the mechanisms shaping global species diversity patterns, we focused on species assembly of bird communities on islands, which are ideal for detecting ecological and historical processes. We tested the hypotheses that species traits and island environments interactively shape the phylogenetic structure of island bird assemblages through a variety of ecological processes: habitat filtering, in-situ speciation, extinction, dispersal limitation and competitive exclusion. We assessed the effects of species ecological traits and environment factors on the phylogenetic fields, which defined as phylogenetic distance between individual bird species and co-occurred species within each island, using phylogenetic generalized linear mixed models. Climate and isolation were the most important factors driving the co-occurrence patterns of island bird species: the species' phylogenetic fields were significantly clustered on tropical and/or isolated islands. We also found that the phylogenetic fields strongly correlated with the ecological traits especially for the diet and habitat preferences: the phylogenetic fields tended to over-disperse for granivores and species inhabiting in wetlands or coasts, while frugivores showed clustered phylogenetic fields. Moreover, mobility and body size had substantial effects on species assemblages: long-distance dispersers had clustered phylogenetic fields and small-bodied species showed overdispersed phylogenetic fields.Publication Open Access Macrophage activation syndrome in a child with juvenile idiopathic arthritis secondary to SARS-CoV-2(Oxford University Press (OUP), 2021) Aktürk, Hacer; Tanyıldız, Murat; Erbey, Mehmet Fatih; Taşdemir, Mehmet; Çelikyurt, Aydın; Gönen, Emel; Bilge, İlmay; Faculty Member; Koç University Hospital; Faculty Member; Doctor; Faculty Member; School of Medicine; Koç University Hospital; N/A; N/A; 206213; N/A; N/A; N/A; 198907Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has caused a pandemic affecting many countries and millions of people. Physicians have encountered some rare and challenging cases related to SARS-CoV-2, a novel virus with still many unknowns. In order to share our experience of a such clinical picture, we present here a child with SARS-CoV-2-induced macrophage activation syndrome in the setting of juvenile idiopathic arthritis.Publication Open Access Pathology associated with adherent perirenal fat and its clinical effect(Wiley, 2021) Ceyhan, Erman; İleri, Fatih; Akı, Fazıl Tuncay; Yazıcı, Mustafa Sertaç; Karçaaltıncaba, Muşturay; Bilen, Cenk Yücel; Baydar, Dilek Ertoy; Faculty Member; School of Medicine; 8025Introduction: the dissection of perirenal fat is of critical importance to kidney surgery and ease of dissection is more important when using minimally invasive approaches. This study aimed to determine the clinical, radiological, and pathological significance of adherent perirenal fat (APF). Materials and methods: this prospective study included 22 patients scheduled for partial nephrectomy and 40 patients for donor nephrectomy. Intraoperative fat dissection time was recorded, and the complexity of perirenal fat dissection was surgeon-classified as easy, moderate, and difficult. Perirenal fat and subcutaneous fat thickness were measured. Measurement of perirenal fat depth and the Hounsfield unit (HU) for both perirenal and subcutaneous fields were performed using computed tomography (CT) images. All specimens were submitted for histopatological analysis. Researchers in each arm were blinded to other researchers' data. Results: mean age of the patients was 51.3 +/- 12.7 years. Mean perirenal fat dissection time was 15.0 +/- 13.5 minutes. Patient demographics, BMI, nor occupational status differed between the 3 complexity of perirenal fat dissection groups. Radiological findings showed that there was a significant correlation between perirenal fat depth and complexity of perirenal fat dissection (P < .05), but not with HU measurements or subcutaneous fat thickness. Surgeon classification of the complexity of perirenal fat dissection was in accordance with the duration of dissection (P < .05). Perinephric fat contained more fibrous tissue in the patients with histologically proven APF than in those without (P < .05). Conclusions: APF is a challenge during kidney surgery. Difficult dissection prolongs the duration of perirenal fat dissection and surgery. Perirenal fat thickness measured via preoperative CT might be used to predict APF.Publication Open Access A case of Burkitt’s lymphoma mimicking peritonitis carcinomatosa(Galenos Yayınevi, 2020) Örnek, Serdar; Tecimer Tülay; Ferhanoğlu, Ahmet Burhan; Büyüktaş, Deram; Faculty Member; Faculty Member; School of Medicine; 18320; N/APublication Open Access Serum endocan levels on admission are associated with worse clinical outcomes in COVID-19 patients: a pilot study(Sage, 2020) Medetalibeyoğlu, Alpay; Emet, Samim; Köse, Murat; Şenkal, Naci; Catma, Yunus; Kaytaz, Arif Murat; Genç, Sema; Ömer, Beyhan; Tükek, Tufan; Koç University HospitalThrombotic and embolic complications in the cardiovascular system are evident and associated with worse prognosis in coronavirus disease 2019 (COVID-19) patients. Endothelial-specific molecule 1 (endocan) plays a role in vascular pathology. We hypothesized serum endocan levels on admission are associated with primary composite end point (mortality and intensive care unit hospitalization) in COVID-19 patients. Patients (n = 80) with laboratory, clinical, and radiological confirmed COVID-19 were included in this cross-sectional study. Ten milliliter of peripheral venous blood were drawn within 24 hours of admission to estimate serum endocan levels. Data were analyzed using SPSS version 26.0 (IBM). Patients with the primary composite end point had significantly higher serum endocan levels than patients without (852.2 ± 522.7 vs 550.2 ± 440.8 ng/L, respectively; P <.01). In the logistic regression analysis, only increased serum endocan levels and increase in age were independent predictors of the primary composite end point (P <.05). In the receiver operating characteristics curve analysis, we found that a serum endocan level of 276.4 ng/L had a 97% sensitivity and 85% specificity for prediction of the primary composite end point. Baseline serum endocan levels may prove useful as a prognostic factor in patients hospitalized for COVID-19.Publication Open Access Reply to letter to the editor by De Michele et al(Springer, 2020) Başak, Ayşe Nazlı; Faculty Member; School of Medicine; 1512