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Publication Open Access A clinical scoring system to predict the development of bronchopulmonary dysplasia(Thieme Medical Publishers, 2015) Hayran, Mutlu; Derin, Hatice; Ovalı, Fahri; N/A; Gürsoy, Tuğba; Faculty Member; School of Medicine; 214691Objective: This study aims to develop a scoring system for the prediction of bronchopulmonary dysplasia (BPD). Methods: Medical records of 652 infants whose gestational age and birth weight were below 32 weeks and 1,500g, respectively, and who survived beyond 28th postnatal day were reviewed retrospectively. Logistic regression methods were used to determine the clinical and demographic risk factors within the first 72 hours of life associated with BPD, as well as the weights of these factors on developing BPD. Predictive accuracy of the scoring system was tested prospectively at the same unit. ResultsBirth weight, gestational age, gender, presence of respiratory distress syndrome, patent ductus arteriosus, intraventricular hemorrhage, hypotension were the most important risk factors for BPD. Therefore, a scoring system (BPD-TM score) ranging from 0 to 13 and grouped in four tiers (0-3: low, 4-6: low intermediate, 7-9: high intermediate, and 10-13: high risk) was developed based on these factors. Below the score of 4, 4.1% of infants (18/436), above the score of 9, 100% (29/29) of the infants developed BPD. The score was validated successfully in 172 infants. Conclusion: With this easy to use scoring system, one can predict the neonate at risk for BPD at 72 hours of life and direct preventive measures toward these infants.Publication Open Access A novel and simple machine learning algorithm for preoperative diagnosis of acute appendicitis in children(Springer, 2020) Türkmen, İnan Utku; Namlı, Gözde; Özturk, Çiğdem; Esen, Ayşe B.; Eray, Y. Nur; Akova, Fatih; Aydın, Emrah; Eroğlu, Egemen; Faculty Member; faculty Member; School of Medicine; 32059; N/AIntroduction: there is a tendency toward nonoperative management of appendicitis resulting in an increasing need for preoperative diagnosis and classification. For medical purposes, simple conceptual decision-making models that can learn are widely used. Decision trees are reliable and effective techniques which provide high classification accuracy. We tested if we could detect appendicitis and differentiate uncomplicated from complicated cases using machine learning algorithms. Materials and methods: we analyzed all cases admitted between 2010 and 2016 that fell into the following categories: healthy controls (Group 1); sham controls (Group 2); sham disease (Group 3), and acute abdomen (Group 4). The latter group was further divided into four groups: false laparotomy; uncomplicated appendicitis; complicated appendicitis without abscess, and complicated appendicitis with abscess. Patients with comorbidities and whose complete blood count and/or pathology results were lacking were excluded. Data were collected for demographics, preoperative blood analysis, and postoperative diagnosis. Various machine learning algorithms were applied to detect appendicitis patients. Results: there were 7244 patients with a mean age of 6.84 +/- 5.31 years, of whom 82.3% (5960/7244) were male. Most algorithms tested, especially linear methods, provided similar performance measures. We preferred the decision tree model due to its easier interpretability. With this algorithm, we detected appendicitis patients with 93.97% area under the curve (AUC), 94.69% accuracy, 93.55% sensitivity, and 96.55% specificity, and uncomplicated appendicitis with 79.47% AUC, 70.83% accuracy, 66.81% sensitivity, and 81.88% specificity. Conclusions: machine learning is a novel approach to prevent unnecessary operations and decrease the burden of appendicitis both for patients and health systems.Publication Open Access A rare case of juvenile amyotrophic lateral sclerosis(Turkish National Pediatric Society, 2021) Bodur, Muhittin; Toker, Rabia Tütüncü; Okan, Mehmet Sait; Başak, Ayşe Nazlı; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; 1512Background: amyotrophic lateral sclerosis (ALS) is a chronic motor neuron disease characterised by progressive weakness in striated muscles resulting from the destruction of neuronal cells. The term juvenile ALS (JALS) is used for patients whose symptoms start before 25 years of age. JALS may be sporadic or familial. Case: here, we present a sporadic case of JALS because of its rarity in children. The heterozygous p.Pro525Leu (c.1574C>T) variation was identified in the fused in sarcoma (FUS) gene. Conclusion: the p.Pro525Leu mutation in the FUS gene has been detected in patients with ALS, characterised by early onset and a severely progressive course.
Publication Metadata only A rare cause of AA amyloidosis and end-stage kidney failure: answers(Springer, 2019) Baba, Zeliha Füsun; Taşdemir, Mehmet; Yılmaz, Sezen Güçlü; Bilge, İlmay; Faculty Member; Undergraduate Student; Faculty Member; School of Medicine; School of Medicine; School of Medicine; 175867; N/A; 198907N/APublication Metadata only A rare cause of AA amyloidosis and end-stage kidney failure: questions and answers(Springer, 2019) Baba, Zeliha Füsun; Taşdemir, Mehmet; Yılmaz, Sezen Güçlü; Bilge, İlmay; Faculty Member; Undergraduate Student; Faculty Member; School of Medicine; School of Medicine; School of Medicine; 175867; N/A; 198907N/APublication Metadata only A rare cause of chronic hyponatremia in an infant: answers(Springer, 2020) Güran, T.; N/A; Yeşiltepe Mutlu, Rahime Gül; Taşdemir, Mehmet; Kızılkan, Nuray Uslu; Hatun, Şükrü; Kayserili, Hülya; Bilge, İlmay; Faculty Member; Faculty Member; Faculty Member; Faculty Member; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; 153511; 175867; 221274; 153504; 7945; 198907N/APublication Metadata only A rare cause of chronic hyponatremia in an infant: questions(Springer, 2020) Guran, Tulay; N/A; Yeşiltepe Mutlu, Rahime Gül; Taşdemir, Mehmet; Kızılkan, Nuray Uslu; Hatun, Şükrü; Kayserili, Hülya; Bilge, İlmay; Faculty Member; Faculty Member; Faculty Member; Faculty Member; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; 153511; 175867; 221274; 153504; 7945; 198907N/APublication Open Access A rare presentation of adrenal adenoma in infancy: isolated Cushing's syndrome(Turkish National Pediatric Society, 2020) Yeğen, Gülçin; Şal, Oğuzhan; Oğuzkurt, Nigar Pelin; Undergraduate Student; School of MedicineAdrenocortical tumors are rare in children. Most of these tumors present with endocrinological manifestations, majority of which with virilizing features alone or in combination with over production of other adrenal hormones. However, it is uncommon of an adrenocortical tumor to present solely with Cushing's syndrome. In this paper we discuss the clinical presentation and management of a 5-month-old infant who had presented with Cushing's syndrome due to a functioning adrenocortical adenoma without androgen and mineralocorticoid excess, and made a brief review on the clinical and histopathological characteristics of adrenocortical tumors.Publication Open Access A single-center report of COVID-19 disease course and management in liver transplanted pediatric patients(Wiley, 2021) Yüksel, Muhammed; Aktürk, Hacer; Mızıkoğlu, Özlem; Toroslu, Ertuğ; Arıkan, Çiğdem; Researcher; Faculty Member; Researcher; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Koç University Hospital; N/A; N/A; N/A; N/A; 240198Background: in 2019, SARS-CoV-2 causing COVID-19 emerged. Severe COVID-19 symptoms may evolve by virtue of hyperactivation of the immune system. Equally, immunocompromised patients may be at increased risk to develop COVID-19. However, treatment guidelines for children following liver transplantation are elusive. Methods: as a liver transplantation center, we diagnosed and followed up 10 children (male/female: 8/2) with a median age of 8.5 years (IQR: 5.2-11.0), with COVID-19 post-liver transplant between March 2019 and December 2020. COVID-19 diagnosis was based on PCR test and or florid X-ray findings compatible with COVID-19 in the absence of other cause. We retrospectively collected clinical and laboratory data from electronic patient records following written consent from patients/parents. Results: nine patients were diagnosed as definitive (PCR positive) with one patient being diagnosed as probable COVID-19. Seven patients recovered without any support whereas three were admitted for non-invasive oxygenation. Lymphopenia and/or high levels of serum IL-6 were detected in four patients. Six patients mounted anti-SARS-CoV-2 antibodies at median 30 days (IQR: 26.5-119.0) following COVID-19 diagnosis. Antibiotic therapy, favipiravir, anakinra, and IVIG were used as treatment in 4,1,1 and 2 patients, respectively. Furthermore, we kept the tacrolimus with or without everolimus but stopped MMF in 2 patients. Importantly, liver allograft function was retained in all patients. Conclusions: we found that being immunocompromised did not affect disease severity nor survival. Stopping MMF yet continuing with tacrolimus was an apt treatment modality in these patients.Publication Open Access A systematic review of recent and ongoing clinical trials in patients with the neurofibromatoses(Elsevier, 2022) Bedolla, Edwin Nieblas; Armstrong, Amy E.; Hirbe, Angela C.; Acar, Simge; Undergraduate Student; School of MedicineIntroduction: the neurofibromatoses comprise three different genetic conditions causing considerable morbidity and mortality: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). This review summarizes recent and ongoing clinical trials involving patients with neurofibromatoses to better understand the current state of clinical trial research centered around these conditions and inform areas of need. Methods: a search was conducted using the Cochrane Central Register of Controlled Trials and clinicaltrials.gov databases. Inclusion and exclusion criteria were designed to identify clinical trials focused on patients with NF1, NF2, or SWN completed in or after 2010 and in process as of December 31, 2021. Information was collected using standardized guidelines. Results: a total of 134 clinical trials were included, with 75 (56%) completed and 59 (44%) in process. For completed trials, 74% (n = 56) involved patients with NF1, and of those based on specific tumors (n = 26, 46%), the majority focused on plexiform neurofibromas (PNs) (n = 12, 46%). For ongoing trials, 79% (n = 47) involve patients with NF1, and of those based on specific tumors (n = 29, 61%), the majority are focused on PNs (n = 13, 45%). Conclusion: both recent and ongoing clinical trials have primarily focused on patients with NF1 and the treatment of PNs. This research has led to the first FDA-approved drug for NF1-PN and has changed management of these tumors, allowing for systemic therapy rather than reliance on only a surgical modality. Trials evaluating comorbid psychiatric conditions and quality of life among patients with any of the neurofibromatoses appear less common. These areas may warrant focus in future studies to improve clinical management.