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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 Management of hypoglycemia in newborn: Turkish Neonatal and Pediatric Endocrinology and Diabetes Societies consensus report(Turkish Pediatric Association, 2019) Aliefendioğlu, Didem; Çoban, Asuman; Hatipoğlu, Nihal; Ecevit, Ayşe; Arısoy, Ayşe Engin; Baş, Firdevs; Bideci, Aysun; Özek, Eren; N/A; Yeşiltepe Mutlu, Rahime Gül; Faculty Member; School of Medicine; 153511Hypoglycemia is one of the most important and most common metabolic problems of the newborn because it poses a risk of neurological injury, if it is prolonged and recurs. Therefore, newborns who carry a risk of hypoglycemia should be fed immediately after delivery and the blood glucose level should be measured with intervals of 2-3 hours from the 30th minute alter feeding. The threshold value for hypoglycemia is 40 mg/dL for the first 24 hours in symptomatic babies. In asymptomatic babies, this value is considered 25 mg/dL for 0-4 hours, 35 mg/dl for 4-24 hours, 50 mg/dL alter 24 hours and 60 mg/dL after 48 hours. Screening should be performed with bed-side test sticks. When values near the limit value are obtained, confirmation with laboratory method should be done and treatment should be initiated, if necessary. The level targeted with treatment is considered 50 mg/dL in the postnatal first 48 hours before feeding, 60 mg/dL after 48 hours in babies with high risk and above 70 mg/dL in babies with permanent hypoglycemia. In cases in which the blood glucose level is below the threshold value and can not be increased by feeding, a glucose infusion of 6-8 mg/kg/min should be initiated. If symptoms accompany, a mini bolus of 10% dextrose (2 ml/kg/min) should accompany. Incements (2 mg/kg/min) should be performed, if the target level can not be achieved and decrements (2 ml/kg/min) should be performed, if nutrition and stabilization is provided. The infusion should be discontinued, if the infusion rate decreases to 3-5 mg/kg/min. If necessary, blood samples should be obtained during hypoglycemia in terms of differential diagnosis and the investigation should be performed following a 6-hour fasting period in babies fed enterally and at any time when the plasma glucose is <50 mg/dL in babies receiving parenteral infusion. The hypoglycemic babies in the risk group whose infusions have been terminated can be discharged, if the plasma glucose level is found to be at the target level for two times before feeding and babies with permanent, severe or resistant hypoglycemia can be discharged, if the plasma glucose level is >60 mg/dL following a 6-hour fast. / Hipoglisemi, uzun sürmesi ve tekrarlaması durumunda nörolojik zedelenme riski nedeniyle, yenidoğanın en önemli ve en sık metabolik sorunlarından birisidir. Bu nedenle, hipoglisemi riski taşıyan yenidoğanlar, doğum sonrası hemen beslenmeli ve beslenme sonrası 30. dakikadan itibaren 2-3 saat aralıklarla kan glukozuna bakılmalıdır. Hipoglisemi eşik değerleri, ilk 24 saat için belirtisi olanlarda 40 mg/dL, belirtisiz olanlarda 0 - 4 saatte 25 mg/dL, 4-24 saat aralığında 35 mg/dL, 24 saatten sonra 50 mg/ dL, 48 saatten sonra ise 60 mg/dL olarak kabul edilebilir. Tarama hastabaşı test çubukları ile yapılmalı, sınıra yakın değerlerde, laboratuvar yöntemi ile doğrulama yapılırken, gerekliyse tedavi başlanmalıdır. Tedavi ile ulaşılması hedeflenen düzeyler, beslenme öncesi postnatal ilk 48 saatte 50 mg/dL, 48 saatten sonra riskli olanlarda 60 mg/dL, kalıcı hipoglisemili olgularda ise 70 mg/dL’nin üstü olarak kabul edilebilir. Kan glukozu eşik değerin altında olan ve beslenme ile yükseltilemeyen durumlarda, 6-8 mg/kg/dk glukoz infüzyonu başlanmalı, belirti eşlik etmesi durumunda ise 2 ml/kg %10 dekstroz minibolus eşlik etmelidir. Hedef düzeye ulaşılamaması durumunda artışlar ve beslenme ile stabilizasyonun sağlanması durumunda azaltmalar 2 mg/kg/dk olarak yapılmalı, infüzyon hızının 3-5 mg/kg/dk’ye inmesi durumunda ise infüzyon sonlandırılmalıdır. Gerekliyse ayırıcı tanı açısından kan örnekleri hipoglisemi sırasında alınmalı ve araştırma, enteral beslenen bebeklerde 6 saatlik beslenmeme periyodu sonrasında, parenteral infüzyon alanlarda ise plazma glukozunun 60 mg/dL olması durumunda taburcu edilebilirler.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 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.Publication Open Access Being a pediatrician and living in the world of children(Aves, 2022) Hatun, Şükrü; Faculty Member; School of Medicine; 153504Publication Open Access Effects of antenatal magnesium exposure on intestinal blood flow and outcome in Preterm Neonates(Thieme Medical Publishers, 2015) İmamoğlu, Ebru Yalın; Ovalı, Fahri; Karatekin, Güner; N/A; Gürsoy, Tuğba; Faculty Member; School of Medicine; 214691Objective This study aims to investigate the effects of antenatal magnesium sulfate on intestinal blood flow in preterm neonates. Study Design In this prospective case-match study, 25 preterm neonates exposed to magnesium sulfate antenatally were included (study group). Overall, 25 gestational age-matched neonates who had no exposure to magnesium constituted the control group. Serial daily Doppler flow measurements of superior mesenteric artery (SMA) were performed. The time to reach full feeds, first meconium passage were assessed. Presence of feeding intolerance or necrotizing enterocolitis was recorded. Results Blood flow velocities of SMA were not different between the groups during the first five postnatal days. However, SMA blood flow showed an increasing trend in the control group unlike the study group (control group, p < 0.001; study group, p = 0.29). There was no significant difference between the two groups regarding the time to reach full feeds or first meconium passage and presence of feeding intolerance. No case of necrotizing enterocolitis was seen. Conclusion Antenatal magnesium does not significantly affect intestinal blood flow, but it seems to attenuate the increasing trend of the intestinal blood flow in the early postnatal days. However, this study failed to show any impact of this finding on clinical outcomes.Publication Open Access The survivorship bias in congenital diaphragmatic hernia(Multidisciplinary Digital Publishing Institute (MDPI), 2022) Aydın, Emrah; Haberman, Beth; Lim, Foong-Yen; Peiro, Jose L.; Torlak, Nilhan; Graduate School of Health SciencesCurrent literature for congenital diaphragmatic hernia (CDH) focuses on the comparison of the overall mortality in CDH patients. Only a few studies concentrate on analyzing the unstable patients who could not achieve surgical repair, as well as those who could but did not survive after. Hence, this study aimed to analyze the effects of various parameters on the timing of death. A retrospective analysis was performed by using the data of all CDH patients from 2003 to 2016 at a single tertiary center. Patients who were diagnosed with left-sided CDH and expired were included in the study regardless of the cause. Of the 66 expired patients, 5 were excluded due to right-sided CDH. The study population constituted a total of 61 patients, of which 31 patients expired prior to CDH repair, and 30 patients expired at different times after CDH repair. Multinomial regression analysis identified that the ECMO need (B = 20.257, p = 0.000, OR: 62.756, 95% CI 10.600-371.384) and O/E LHR (B = 20.376, p = 0.000, OR: 70.663, 95% CI 48.716-102.415) values were the independent predictors that influenced mortality in this cohort. Prenatal pulmonary measurements are the major predictors determining the severity of the disease in patients with CDH.Publication Open Access Apple peel atresia with isolated fetal ascites and digit anomalies(Springer, 2019) Özlü, Can; Özen, Mehmet Ali; Gürsoy, Tuğba; Oğuzkurt, Nigar Pelin; Faculty Member; Faculty Member; Koç University Hospital; N/A; N/A; 214691; N/APublication Open Access The prevalence and diagnostic criteria of health-care associated infections in neonatal intensive care units in Turkey: a multicenter point- prevalence study(Elsevier, 2021) Demirdağ, Tuğba Bedir; Koç¸ Esin; Tezer, Hasan; Oğuz, Suna; Satar, Mehmet; Sağlam, Özge; Uygun, Saime Sündüz; Önal, Esra; Hırfanoğlu, İbrahim Murat; Tekgündüz, Kadir; Oygür, Nihal; Bülbül, Ali; Zübarioğlu, Umut; Üstün, Nuran; Ünal, Sezin; Aygün, Canan; Karagöl, Belma Saygılı; Zenciroğlu, Ayşegül; Öncel, M. Yekta; Sağlık, Adviye Çakıl; Okulu, Emel; Terek, Demet; Narlı, Nejat; Aliefendioğlu, Didem; Ünal, Sevim; Türkmen, Münevver Kaynak; Narter, Fatma Kaya; Çiftdemir, Nükhet Aladağ; Beken, Serdar; Çakır, Salih Çağrı; Yiğit, Şule; Çoban, Asuman; Ecevit, Ayşe; Çelik, Yalçın; Kulalı, Ferit; Gürsoy, Tuğba; Faculty Member; School of Medicine; 214691Background: healthcare-acquired infections (HAIs) in the neonatal period cause substantial morbidity, mortality, and healthcare costs. Our purpose was to determine the prevalence of HAIs, antimicrobial susceptibility of causative agents, and the adaptivity of the Centres for Disease Control and Prevention (CDC) criteria in neonatal HAI diagnosis. Methods: a HAI point prevalence survey was conducted in the neonatal intensive care units (NICUs) of 31 hospitals from different geographic regions in Turkey. Results: the Point HAI prevalence was 7.6%. Ventilator-associated pneumonia (VAP) and central line-associated bloodstream infections (CLABSI) and late onset sepsis were predominant. The point prevalence of VAP was 2.1%, and the point prevalence of CLABSI was 1.2% in our study. The most common causative agents in HAIs were Gram-negative rods (43.0%), and the most common agent was Klebsiella spp (24.6%); 81.2% of these species were extended spectrum beta-lactamase (ESBL) (+). Blood culture positivity was seen in 33.3% of samples taken from the umbilical venous catheter, whereas 0.9% of samples of peripherally inserted central catheters (PICCs) were positive. In our study, 60% of patients who had culture positivity in endotracheal aspirate or who had purulent endotracheal secretions did not have any daily FiO2 change (p = 0.67) and also 80% did not have any increase in positive end-expiratory pressure (PEEP) (p = 0.7). On the other hand, 18.1% of patients who had clinical deterioration compatible with VAP did not have endotracheal culture positivity (p = 0.005). Conclusions: neonatal HAIs are frequent adverse events in district and regional hospitals. This at-risk population should be prioritized for HAI surveillance and prevention programs through improved infection prevention practices, and hand hygiene compliance should be conducted. CDC diagnostic criteria are not sufficient for NICUs. Future studies are warranted for the diagnosis of HAIs in NICUs.Publication Open Access Turkish Neonatal Society guideline to the approach, follow-up, and treatment of neonatal jaundice(Turkish Pediatric Association, 2018) Çoban, Asuman; Türkmen, Münevver Kaynak; N/A; Gürsoy, Tuğba; Faculty Member; School of Medicine; 214691Jaundice is one of the most common problems in the newborn. It is generally accepted as a physiologic condition; most cases are benign and transient. However, in a small portion of jaundiced newborn infants, serum bilirubin concentrations increase to a level at which irreversible brain damage can occur. The timely diagnosis and management of severe hyperbilirubinemia is essential to prevent acute bilirubin encephalopathy and kernicterus. Kernicterus still occurs although it is almost always preventable. The focus of this guideline is to reduce the incidence of severe hyperbilirubinemia and bilirubin encephalopathy. Therefore, a system-based approach using the recommendations of this guideline should be implemented in all birthing facilities and continued in ambulatory care of the newborn infants. / Sarılık yenidoğan bebeklerde sık görüllen bulgulardan biridir. Normal fizyolojik bir durum olarak kabul edilir; genellikle selim, geçici bir durumdur. Ancak yenidoğanların küçük bir bölümünde geri dönüşümsüz ciddi beyin hasarı için tehdit oluşturabilen düzeylere erişebilir. Zamanında tanı konup tedavi edildiğinde akut bilirubin ensefalopatisi ve kernikterus önlenebilir. Kernikterus her zaman önlenebilir bir durum olmasına rağmen halen görülmektedir. Bu kılavuzun amacı ciddi hiperbilirubinemi sıklığını ve bilirubin ensefalopatisini azaltmaktır. Bundan dolayı bu kılavuzun önerilerinin tüm doğum yapılan kurumlarda ve taburcu etme sonrası izlemde kullanılmasını sağlamak önemlidir.