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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 complication after an interventional procedure using the common carotid: carotid pseudoaneurysm in an infant(Cambridge University Press (CUP), 2023) N/A; Biçer, Mehmet; Kızılkaya, Mete Han; Ödemiş, Ender; Gündoğmuş, Cemal Aydin; Faculty Member; Doctor; Faculty Member; Doctor; School of Medicine; N/A; School of Medicine; N/A; Koç University Hospital; 310599; N/A; 194545; N/AThe carotid artery is a valuable vascular access that can be used in patients who have undergone repetitive interventional and surgical procedures and premature babies. In the past, cut-down was used but nowadays, mostly the procedure is performed under ultrasonographic guidance. Complications such as bleeding, haematoma, and pseudoaneurysm may occur when the carotid artery is used as a vascular access for the procedures such as aortic balloon valvuloplasty, coarctation balloon angioplasty, or after interventional or surgical treatments to the carotid artery. Although pseudoaneurysm is very rare, prompt diagnosis and accurate treatment planning are life-saving. In this article, the diagnosis and treatment of pseudoaneurysm in the left common carotid after transcatheter coarctation balloon angioplasty in a 6-month-old infant will be presented.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 Ambulatory arterial stiffness index is increased in obese children(Turkish National Pediatric Society, 2020) Gayret, Özlem Bostan; Taşdemir, Mehmet; Erginöz, Ergin; Bilge, İlmay; Doctor; Undergraduate Student; Faculty Member; School of Medicine; N/A; N/A; 198907Background and objectives: one way to measure arterial stiffness is the ambulatory arterial stiffness index (AASI), which is the relationship between diastolic and systolic ambulatory blood pressure (BP) over 24-hours. Methods: we studied the difference in AASI between obese and lean children. AASI was calculated from 24-hour ambulatory blood pressure monitoring in 53 obese children (33 girls) and compared with age-matched 42 healthy subjects (20 girls). Hypertension was defined according to the criteria of the American Heart Association. To evaluate inflammation, the blood level of high-sensitive C-reactive protein was measured. Results: the mean age was 10.6 +/- 2.83 years in obese children and 11.3 +/- 3.17 years in healthy subjects. Hypertension was determined in three (5.6%) obese children. The median heart rate-SDS, pulse pressure and blood pressure values did not differ between the two groups. The mean AASI was significantly higher in obese children compared to healthy subjects (0.42 +/- 0.15 vs. 0.29 +/- 0.18, p <0.001). AASI significantly correlated with nighttime SBP-SDS, nighttime SBP-load, systolic and diastolic nocturnal dipping, with no independent predictor. Conclusion: this study confirms that AASI is increased in obese children. AASI calculation is a useful, cost-effective, and an easy method to evaluate arterial stiffness. Early detection of increased arterial stiffness can help clinicians come up with preventive measures in the management of patients.Publication Open Access Behavioral functioning of school-aged children with non-syndromic craniosynostosis(Springer, 2020) Zeytinoğlu Saydam, Senem; Özek, M. Memet; Crerand, Canice; Department of Business Administration; Marcus, Justin; Faculty Member; Department of Business Administration; College of Administrative Sciences and Economics; 124653Purpose: this study investigated the risk for children with non-syndromic craniosynostosis to develop behavioral problems during school age determined by the type of craniosynostisis, age at first surgery, and number of surgeries. Method: final sample consisted of 43 children aged between 6 years and 8 months and 17 years and 1 month (M = 10 years and 5 months). Behavioral problems were assessed with Child Behavioral Checklist (CBCL). Results: our sample had higher scores on the CBCL than the general population; specific elevations were observed including somatic complaints, aggressive behavior, social problems, attention problems, and thought problems and rule-breaking behavior. Behavioral functioning varied by number of surgical procedures, type of craniosynostosis, and age at first surgery. Conclusion: for school-aged NSC children's behavioral functioning, diagnosis specific patterns especially impacted by the first age of the surgery and number of surgeries.Publication Open Access Clinical presentation in a series of eight children with abdominal tuberculosis: experience of a single-center in Turkey(Kowsar Publishing Corporation, 2017) Usta, Merve; Urgancı, Nafiye; Dalgıç, Nazan; Kurtaraner, Tuğce; Karadağ, Çetin Ali; N/A; Kızılkan, Nuray Uslu; Faculty Member; School of MedicineBackground: Abdominal tuberculosis, the sixth commonest extrapulmanory tuberculosis, is easily misdiagnosed due to nonspecific gastrointestinal symptoms. The diagnosis is highly dependent on clinician's suspicion of the disease; therefore to increase awareness we retrospectively reviewed clinical features of eight children in a four year-period. Methods: The medical records of children with abdominal TB were retrospectively reviewed. The diagnosis of abdominal TB was defined as Mycobacterium tuberculosis infection of gastrointestinal tract along with peritoneal or solid organ involvement. Results: There were six girls and two boys with a mean age of 13.6 +/- 2.8 years (range, 7 - 16 years). Abdominal pain and weight loss were common complaints in all patients (100%) at presentation; fever was present in four (50%) patients and abdominal distension in two (25%) patients. Mean duration of symptoms before diagnosis was 2.5 +/- 1 months. Laparotomy performed in six patients, and the peritoneum was the most common infection site (in 5 patients). Chest X-rays of 7 patients indicated lung involvement. The most common abdominal computed tomography and ultrasonography finding was ascites. Bowel wall thickening was recorded in 2 patients and ileal thickening in 1 patient. Inguinal lymphadenopathy and multiple mesenteric lymphadenitis were present as single cases. Conclusions: The abdominal tuberculosis should be suspected in children with ongoing abdominal pain, fever, and abdominal distension, laparoscopy or laparotomy could be useful in the differential diagnosis and utilizing imaging techniques, invasive methods with clinical suspicion may prevent delay of the diagnosis.Publication Metadata only Comparison of the adolescent pregnancy outcomes between refugees and Turkish citizens(Turkish National Pediatric Society, 2024) Arslan, Oğuz; Tuğ, Niyazi; N/A; Giray, Burak; School of MedicineBackground. Adolescent pregnant women have significant risk factors in terms of preterm birth, low birth weight, gestational and neonatal complications, and neonatal and infant deaths. In many countries, living as a refugee differs from living as a local citizen regarding education level, access to health services, and lifestyle. We aimed to compare the obstetric, perinatal, and neonatal outcomes of Turkish and refugee adolescent pregnant women admitted to a tertiary maternity center. Methods. The study was planned as a retrospective cross-sectional. We included adolescent pregnant women who delivered between February 2018 and August 2023. Adolescent pregnant women were divided into two groups, the Turkish group and the Syrian refugee group, and compared with each other. Results. One thousand and fifty-one Turkish and 742 refugee adolescent pregnant women were included in the study. Adolescent pregnancy rates are higher in refugees than in the Turkish group (p < 0.001). We found that maternal age (p < 0.001), preeclampsia rates (p=0.029), gestational age at delivery (p < 0.001), and cesarean delivery rates (p=0.02) were lower in refugee adolescent pregnant women. Furthermore, we found that the anemia rates (p < 0.001) and low birth weight newborn rates (p = 0.011) were higher in refugee adolescent pregnant women. Conclusions. Enhancing the outcomes of adolescent pregnancies among refugees necessitates a heightened focus on education regarding sexual reproduction, increased prenatal follow-ups, and enhanced training in family planning. © 2024, Turkish National Pediatric Society. All rights reserved.Publication Open Access Could plasma based therapies still be considered in selected cases with atypical hemolytic uremic syndrome?(Turkish National Pediatric Society, 2021) Özlü, Sare Gülfem; Gülhan, Bora; Aydoğ, Özlem; Atayar, Emine; Delibaş, Ali; Parmaksız, Gönül; Özdoğan, Elif Bahat; Çomak, Elif; Acar, Banu; Özçakar, Zeynep Birsin; Topaloğlu, Rezan; Söylemezoğlu, Oğuz; Özaltın, Fatih; Taşdemir, Mehmet; Doctor; School of MedicineBackground: atypical hemolytic uremic syndrome (aHUS) occurs due to defective regulation of the alternative complement pathway (ACP) on vascular endothelial cells. Plasma based therapy (PT) was the mainstay of the treatment for aHUS for many years until the introduction of therapies targeting blockage of the complement system. The aim of this study was to evaluate patients with aHUS who had been treated with plasma based therapies alone. Methods: the outcomes of seven genetically confirmed aHUS patients (2 girls, 5 males) were evaluated by means of clinical presentation, response to plasma therapy, course of the disease during the follow-up period and last status. Results: the median age of the patients at admission was 6.7 years (IQR 0.7-7.8). Three patients received plasma exchange therapy and the other four patients were treated with plasma infusions. One patient was lost to follow-up after one year; the median duration of follow-up for other patients was 3.7 years (IQR 2.7-6.5). During the follow up, two patients from our historical records when complement blocking therapies had not been in clinical use yet in Turkey, underwent kidney transplantation. One transplant patient experienced an acute rejection episode without graft loss. The remaining five patients had a glomerular filtration rate of more than 90 ml/min./1.73 m(2) at the last visit. Conclusion: although we had a relatively small patient population, our findings indicate that PT might still be considered in selected patients particularly in countries where complement blocking therapies are difficult to reach due to their unavailability or costs that are not covered by the health care systems.Publication Open Access Cytokine responses to symbiotic and lactoferrin combination in very low birth weight neonates: a randomized control trial(Sociedad Argentina de Pediatria (SAP), 2020) Pehlevan, Özge Serçe; Benzer, Derya; Çetin, Esin Aktaş; Karatekin, Güner; Ovalı, Fahri; Gürsoy, Tuğba; Faculty Member; School of Medicine; 214691Introduction: probiotics and prebiotics, which are multifunctional agents, have potential benefits in chronic mucosal inflammation, including the prevention of necrotizing enterocolitis. However, the mechanisms and the results of these immunomodulatory effects are not clear. This study aimed to investigate the cytokine response to the combination of Lactobacillus and Bifidobacterium together with fructo- and galacto-oligosaccharides (symbiotic) and lactoferrin in very low birth weight neonates. Population and methods: infants <= 32 GWs and <= 1,500 g were randomly assigned to receive a symbiotic combination or 1 ml distilled water as placebo starting with the first feed until discharge. Blood samples were obtained at postnatal 0 +/- 2, 14 +/- 2, and 28 +/- 2 days, and the serum levels of interferon-gamma, interleukin (IL)-5, IL-10, and IL-17A were measured. Results: in the study group (n = 25), the IL-10 levels decreased throughout the study period (p = 0.011)but did not change in the control group. The IL-5 levels remained steady in the first 14 days and decreased significantly thereafter (p= 0.042) in the study group, whereas they increased in the first 14 days (p = 0.019), and then decreased in 28 days (p = 0.011) in the control group (n = 25). The levels of the other cytokines did not change throughout the study period. Conclusion: the combined use of probiotics with oligosaccharides and lactoferrin was associated with a decrease in IL-10 levels, but no change was observed in the other cytokines. / Introducción, los probióticos y prebióticos presentanbeneficiospotencialesenlainflamación crónica de las mucosas, incluida la prevención de la enterocolitis necrosante. No obstante, los mecanismos y resultados de estos efectos inmunomoduladores son confusos. El objetivo fue investigar la respuesta de las citocinas a Lactobacillus y Bifidobacterium asociados con fructo- y galactooligosacáridos (simbióticos) y lactoferrina en recién nacidos de muy bajo peso al nacer. Población y métodos. Se asignó aleatoriamente a lactantes con ≤32 semanas de gestación y ≤1500 g de peso para recibir simbióticos o 1 ml de agua destilada como placebo desde la primera alimentación hasta el alta. Se obtuvieron muestras de sangre los días posnatales 0 ± 2, 14 ± 2 y 28 ± 2, y se midieron interferón-γ, interleucina (IL)-5, IL-10 e IL-17A. Resultados, en el grupo del estudio (n = 25), la concentración de IL-10 disminuyó a lo largo del estudio (p=0,011), pero no cambió en el grupo de referencia. La concentración de IL-5 se mantuvo constante los primeros 14 días y luego disminuyó significativamente (p = 0,042) en el grupo del estudio, mientras que aumentó en los primeros 14 días (p = 0,019) y luego disminuyó en 28 días (p = 0,011) en el grupo de referencia (n = 25).La concentración de otras citocinas no cambió a lo largo del estudio. Conclusión, el uso combinado de probióticos con oligosacáridos y lactoferrina estuvo asociado con una disminución en la concentración de IL-10, pero no se observó un cambio en las otras citocinas. Palabras clave: citocinas, lactoferrina, enterocolitis necrosante, prebióticos, probióticos.Publication Metadata only Decreased bone ultrasound velocity in premature infants conceived with assisted reproduction(Turkish J Pediatrics, 2015) Korkmaz, Ayse; Ozyuncu, Ozgur; Armangil, Didem; N/A; Gürsoy, Tuğba; Faculty Member; School of Medicine; Koç University Hospital; 214691Quantitative ultrasound (QUS) measurement of tibial speed of sound (SOS) can be used to determine bone strength. Children conceived with assisted reproduction treatments (ART) are taller than naturally conceived (NC) children, so we hypothesized that these infants would have higher SOS levels than NC infants. Thirty-seven ART (ART group) and 51 NC neonates (NC group) were included in the study. Tibial initial SOS (iSOS) was measured within 96 hours of birth using QUS. Measurements were performed weekly until the infant was discharged from the hospital. The iSOS levels of the ART group (2823.41 +/- 110.8 m/sec) were lower than those of the NC group (2917.14 +/- 145.6 m/sec) (p=0.001). A decrease in SOS levels was observed in 39 of 53 infants who had serial scans. The difference in SOS levels between the first and last scan was significant (p<0.02). In vitro manipulation during the periconceptual period can result in metabolic alterations in bone mineral content. Contrary to our null hypothesis, bone SOS of infants in the ART group was found to be lower than in the NC group. Moreover, bone SOS decreases in early postnatal life. This result emphasizes the fact that even with advances in nutritional care, the ex utero environment remains a poor substitute for in utero development.