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ÖZTÜRK, MAKBULE NİLÜFER

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MAKBULE NİLÜFER

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2013 - 2019142020 - 20238
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    PublicationOpen Access
    A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age
    (SPRINGER, 2020-07) DAĞÇINAR, ADNAN; Eltan, Mehmet; Alavanda, Ceren; Yavas Abali, Zehra; Ergenekon, Pinar; Yalindag Ozturk, Nilufer; Sakar, Mustafa; Dagcinar, Adnan; Kirkgoz, Tarik; Kaygusuz, Sare Betul; Gokdemir, Yasemin; Elcioglu, Huriye Nursel; Guran, Tulay; Bereket, Abdullah; Ata, Pinar; Turan, Serap
    Raine Syndrome (RS) is caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. Subperiosteal bone formation and generalized osteosclerosis are the most common radiological findings. Here we present a new case with RS. A 9-month-old male patient on a home-type ventilator was referred for hypophosphatemia. He was born with a weight of 3800 g to non-consanguineous parents. Prenatal ultrasound had demonstrated nasal bone agenesis. A large anterior fontanel, frontal bossing, exophthalmos, hypoplastic nose, high arched palate, low set ears, triangular mouth, and corneal opacification were detected on physical examination. Serial skeletal X-rays revealed diffuse osteosclerosis at birth which was gradually decreased by the age of 5 months with subperiosteal undermineralized bone formation and medullary space of long bone could be distinguishable with bone-within-a-bone appearance. At 9 months of age, hand X-ray revealed cupping of the ulna with loose radial bone margin with minimal fraying and osteopenia. Cranial computed tomography scan showed bilateral periventricular calcification and hydrocephalus in progress. The clinical, laboratory, and radiological examinations were consistent with RS. Molecular analyses revealed a compound heterozygous mutation in FAM20C gene (a known pathogenic mutation, c.1645C > T, p.Arg549Trp; and a novel c.863 + 5 G > C variant). The patient died due to respiratory failure at 17 months of age. This case allowed us to demonstrate natural progression of skeletal features in RS. Furthermore, we have described a novel FAM20C variant causing RS. Previous literature on RS is also reviewed.
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    A Multidisciplinary Approach to Expand the Use of Pediatric ECLS Systems in Turkey
    (WILEY, 2015) ÖZTÜRK, MAKBULE NİLÜFER; Onan, Ismihan Selen; Haydin, Sertac; Uendar, Akif; Yalindag-Ozturk, M. Nilufer; Demirkol, Demet; Kalkan, Gokhan; Ceyran, Hakan; Atay, Yuksel; Sasmazel, Ahmet; Karaci, Ali Riza; Sevketoglu, Esra; Koroglu, Tolga; Altin, Husnu Firat; Yazici, Pinar; Yildizdas, Dincer; Cicek, Ali Ekber; Odemis, Ender; Akcevin, Atif; Bakir, Ihsan
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    Perioperatif kardiyak yoğun bakım
    (Ankara Nobel Kitabevi, 2022-11-01) ÖZTÜRK, MAKBULE NİLÜFER; Öztürk M. N.
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    Topsy-Turvy Heart: A Very Rare Congenital Rotational Heart Disease With Tracheobronchial Anomalies
    (2013) AKALIN, FİGEN; Erek E., Guzeltas A., Ozturk N.Y., Kiyan G., Karakoc F., Akalin F., Odemis E., Arsan S.
    The topsy-turvy heart is characterized by a global 90°clockwise rotation around the heart’s long axis. This rotation displaces all basal great arteries inferiorly and posteriorly, resulting in elongation and stretching of the brachiocephalic arteries and the bronchi. To date, reports of only four living cases have been published in the literature. We report here three new cases, with additional aortopulmonary window defects, and present their morphological details, clinical presentations, and our management. © 2013, SAGE Publications. All rights reserved.
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    Pneumatosis intestinalis and fatal portosystemic air emboli
    (SPRINGER, 2019) TÜNEY, DAVUT; Ozturk, M. Nilufer Yalindag; Tuney, Davut
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    Apnea Test on Extracorporeal Life Support System: Feasible and Needed
    (2018) UYAR, EMEL; Yalındağ-Öztürk, Nilüfer; Girgin Incekoy, Feyza; Uyar, Emel
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    PublicationOpen Access
    Mortality risk factors among critically ill children with MIS-C in PICUs: A multicenter study
    (2023-01-01) ÖZTÜRK, MAKBULE NİLÜFER; Sık G., Inamlık A., Akçay N., KESİCİ S., AYGÜN F., KENDİRLİ T., Atay G., Sandal O., Varol F., Ozkaya P. Y., et al.
    Background: This study evaluated of clinical characteristics, outcomes, and mortality risk factors of a severe multisystem inflammatory syndrome in children admitted to a the pediatric intensive care unit. Methods: A retrospective multicenter cohort study was conducted between March 2020 and April 2021 at 41 PICUs in Turkey. The study population comprised 322 children diagnosed with multisystem inflammatory syndrome. Results: The organ systems most commonly involved were the cardiovascular and hematological systems. Intravenous immunoglobulin was used in 294 (91.3%) patients and corticosteroids in 266 (82.6%). Seventy-five (23.3%) children received therapeutic plasma exchange treatment. Patients with a longer duration of the PICU stay had more frequent respiratory, hematological, or renal involvement, and also had higher D-dimer, CK-MB, and procalcitonin levels. A total of 16 patients died, with mortality higher in patients with renal, respiratory, or neurological involvement, with severe cardiac impairment or shock. The non-surviving group also had higher leukocyte counts, lactate and ferritin levels, and a need for mechanical ventilation. Conclusions: In cases of MIS-C, high levels of D-dimer and CK-MB are associated with a longer duration of PICU stay. Non-survival correlates with elevated leukocyte counts and lactate and ferritin levels. We were unable to show any positive effect of therapeutic plasma exchange therapy on mortality. Impact: MIS-C is a life-threatening condition.Patients need to be followed up in the intensive care unit.Early detection of factors associated with mortality can improve outcomes.Determining the factors associated with mortality and length of stay will help clinicians in patient management.High D-dimer and CK-MB levels were associated with longer PICU stay, and higher leukocyte counts, ferritin and lactate levels, and mechanical ventilation were associated with mortality in MIS-C patients.We were unable to show any positive effect of therapeutic plasma exchange therapy on mortality.
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    PublicationOpen Access
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    The outcomes of using high oxygen concentration in pediatric patients
    (SPRINGER HEIDELBERG) HARMAN, FERHAT; Saracoglu, Ayten; Zengin, Seniyye Ulgen; Ozturk, Nilufer; Niftaliyev, Seymur; Harman, Ferhat; Aykac, Zuhal
    Oxygen reserve index, available as part of Masimo Rainbow SET pulse oximetry, is a noninvasive and continuous variable intended to provide insight into a patient's oxygen status in the moderate hyperoxic range (PaO2 > 100 and <= 200 mm Hg), defined as a patient's oxygen reserve. When used in conjunction with pulse oximetry, ORi extends the knowledge on a patient's oxygen status providing clinically important information helping to prevent hyperoxemia and hypoxemia. There are limited data on patients undergoing craniosynostosis surgery. Our primary goal was to evaluate the effects of different concentrations of inspiratory oxygen (FiO(2)) on patient oxygenation status by monitoring ORi. Thirty patients scheduled for craniosynostosis were included in this observational cohort study. Patients were randomized into two equal groups: Group 1 received a fraction of inspired oxygen of 0.8 and group 2 received a FiO(2) of 0.6 during induction of anaesthesia. In addition to standard haemodynamic variables with ORi were recorded at baseline 1 min, 5 min, 60 min, and 120 min after intubation. Postoperative complications, length of stay in the intensive care unit and hospital were recorded. In total, 14 patients were evaluated in each group. Gender, age, BMI, ASA scores were similar between groups (p > 0.05). In Group 1, ORi values were significantly higher when compared to group 2 at baseline (0.86 +/- 0.21 vs 0.45 +/- 0.32, p = 0.001), one minute (0.61 +/- 0.24 vs 0.27 +/- 0.21, p = 0.001), and 5 min (0.34 +/- 0.31 vs 0.10 +/- 0.13, p = 0.033). High inspired oxygen concentration during induction of anesthesia in pediatric patients is associated with higher levels of ORi. Therefore, ORi may provide the means to safely reduce the inspired oxygen fraction during inhalational induction in paediatric patients.
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    PublicationOpen Access
    Çocuk İstismarına Bağlı Adli Olguda Beyin Ölümü ve Organ Nakli; Olgu Sunumu
    (2019-06-18) UYAR, EMEL; Feyza İnceköy GİRGİN;Emel UYAR;Makbule Nilufer Yalındağ ÖZTÜRK
    Çocuk istismarı oldukça sık rastlanan ve çocuklarda ciddi morbidite ve mortaliteye yol açan sosyal ve tıbbi bir sorundur. Bu durumdan şüphelenilmesi ve ölüme kadar giden süreçte bunun önüne geçilebilmesinde çocuk hekiminin rolü çok büyüktür. Beyin ölümü, tüm beyin işlevlerinin geri dönüşümsüz olarak kaybedildiği klinik bir durumdur. Beyin ölümü olan ve organ nakline uygun bulunan olgular, ailelerinin onamı ile donör olabilmektedir. Adli olgular, organ nakli için donör adayı oldukları zaman; adli tıp, etik ve hukuk açısından farklı sorunlar karşımıza çıkmaktadır. İstismar nedeniyle ciddi kafa travması gelişen 10 aylık erkek olguya yoğun bakım ünitemizde takibinin 56. saatinde beyin ölümü tanısı konulmuştur. Ailesi tarafından beyin ölümü tanı ve bilgilendirme sonrası 4. saatte olgunın organ donörü olması kabul edilmiştir. Olgu adli tıp ve savcılık tarafından inceleme sonrasında, tanıdan yaklaşık 38 saat sonra karaciğer, böbrek ve kornea donörü olarak değerlendirilmiştir. Olgumuz ile; çocuk istismarı tanısının konulmasında hekimin dikkat ve farkındalığının, beyin ölümünün erken tanınmasının organ nakli sürecindeki önemini ve adli olguların da donör olabileceğini hatırlatmak istedik