Person: GÖKDEMİR, YASEMİN
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GÖKDEMİR
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YASEMİN
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Publication Open 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, SerapRaine 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.Publication Open Access Improvements in body mass index of children with cystic fibrosis following implementation of a standardized nutritional algorithm: A quality improvement project(2023-03-01) GÖKDEMİR, YASEMİN; ERDEM ERALP, ELA; ERGENEKON, ALMALA PINAR; YILMAZ YEĞİT, CANSU; KARADAĞ, BÜLENT TANER; GÖKDEMİR Y., ERDEM ERALP E., ERGENEKON A. P., YILMAZ YEĞİT C., Yanaz M., Mursaloglu H., Uzunoglu B., Kocamaz D., Tastan G., Filbrun A., et al.BackgroundA collaboration between the University of Michigan (UM) Cystic Fibrosis Center (CFC) and Marmara University (MU) CFC was initiated in MU through conducting Quality Improvement projects (QIP). The global aim was to improve nutritional status of children with CF (cwCF), with a specific aim to increase the mean BMI percentile (BMIp) for cwCF by 10 percentile points in 12 months. MethodsBody mass index (BMI) percentiles of cwCF were categorized as: nutritionally adequate (BMIp >= 50%); at risk (BMIp 25%-49%); urgently at risk (BMIp 10%-25%); critically at risk (BMIp < 10%). Appropriate interventions were made according to BMIp category every three months. Forced expiratory volume in one-second percent predicted (FEV1pp), and health-related quality of life (HRQoL) were evaluated. ResultsOne hundred and eight-two cwCF with a mean age of 9.1 +/- 4.3 years were included in the project. Baseline BMIp increased from 25.6 to 37.2 at the 12th month (p < 0.001). In the critically at-risk group BMIp increased from 3.6 to 20.5 (p < 0.001), in the urgently at risk group from 15.9 to 30.8 (p < 0.001), in the at risk group from 37.0 to 44.2 (p < 0.079) and in the nutritionally adequate group the increase was from 66.8 to 69.5 (p < 0.301). FEV1pp also improved significantly, from 81.3 +/- 20.6 to 85.9 +/- 20.8 (p < 0.001). Physical functioning, eating problems, and respiratory symptoms domains of the HRQoL evaluation improved (p < 0.05). ConclusionThis project has led to significant improvements in BMIp, FEV1pp and HRQoL of cwCF; similar projects could easily be implemented by centers in other developing countries.Publication Open Access Collaboration between two CF centers; one in USA and one in Turkey before and during CoV2 pandemic(2022-10-01) GÖKDEMİR, YASEMİN; ERDEM ERALP, ELA; Nasr S. Z., Gökdemir Y., Erdem E., Karakoc F., Ergenekon P., Tapley C., Dagher S., Bouma S., Coşkun Ö. K., Kocamaz D., et al.To address the discrepancy in the quality of care and outcomes between cystic fibrosis centers (CFCs) in high-income countries and limited resources countries (LRCs), a collaboration between our team at the University of Michigan CFC (UMCFC) and a CF center in Turkey (Marmara University CFC [MUCFC], Istanbul) was established. The collaboration included evaluation of all aspects of care and initiation of quality improvement (QI) measures. Teaching and implementing QI tools has led to start of improvement in MUCFC care. Close monitoring and sharing resources like UMCFC algorithms, protocols, and QI processes were done.Publication Open Access Depression, anxiety, and sleep quality of caregivers of children with spinal muscular atrophy(2023-03-01) ERGENEKON, ALMALA PINAR; YILMAZ YEĞİT, CANSU; SELÇUK, MERVE; KARABULUT, ŞEYDA; ÖZTÜRK THOMAS, GÜLTEN; ERDEM ERALP, ELA; ÜNVER, OLCAY; KARADAĞ, BÜLENT TANER; GÖKDEMİR, YASEMİN; ERGENEKON A. P., Gumus Z., YILMAZ YEĞİT C., Cenk M., Gulieva A., Kalyoncu M., SELÇUK M., KARABULUT Ş., ÖZTÜRK G., ERDEM ERALP E., et al.BackgroundThe aim of this study was to evaluate the prevalence of anxiety, depression, sleep, and associated factors in caregivers of children with spinal muscular atrophy (SMA). Materials and MethodsBeck Depression Inventory (BDI), the State-Trait Anxiety Inventory-State (STAI-S), the State-Trait Anxiety Inventory-Trait (STAI-T), and Pittsburgh Sleep Quality Index (PSQI) were used to assess the anxiety, depression, and sleep quality of the caregivers of children with SMA. Higher scores indicated worse outcome for all three questionnaires. ResultsFifty-six caregivers of children with SMA were included in the study. Median age of children was 6 (3.2-10) years and mean age of the caregivers was 37.0 +/- 6.5 years. Median scores of the BDI, STAI-S, STAI-T, and PSQI were 12 (7.2-17), 35.5 (31-44), 40.5 (35-48), and 7.0 (5.0-10.0), respectively. There was a positive correlation between BDI and PSQI scores (p < 0.05). There was a negative correlation between the age of the caregivers and PSQI, BDI, STAI-T scores (p = 0.01, r = -0.341; p = 0.006, r = -0.364; p = 0.003, r = -0.395, respectively). There was a negative correlation between the age of the patients and the PSQI scores of the caregivers (p = 0.01, r = -0.33). There was a negative correlation between BDI scores and household income (p = 0.01, r = -0.34). ConclusionCaregivers of children with SMA had elevated depression and anxiety levels and they also had decreased sleep quality. Economic and social support resources are needed to help caregivers of those children.Publication Open Access Electronic home monitoring of children with cystic fibrosis to detect and treat acute pulmonary exacerbations and its effect on 1-year FEV1(2023-01-01) UZMANOĞLU, MUSTAFA SELÇUK; ERGENEKON, ALMALA PINAR; GÖKDEMİR, YASEMİN; ERDEM ERALP, ELA; Yanaz M., Yilmaz Yegit C., Gulieva A., Kalyoncu M., UZMANOĞLU M. S., Uzunoglu B., Tastan G., ERGENEKON A. P., GÖKDEMİR Y., ERDEM ERALP E., et al.Background: We aimed to investigate the effect of the use of electronic home spirometry in children with cystic fibrosis (CF) on 1-year FEV1 (% predicted, pp) change. Methods: This is a randomised, one-year prospective study including children with CF between 6 and 18 years of age. Subjects were randomised into home spirometry group (HSG) and usual care group (UCG). Children in HSG performed two pulmonary function tests (PFT) per week. Data regarding acute pulmonary exacerbations (PEx) was obtained from patients’ records. At baseline and 12th month, health related quality of life questionnaire for CF patients (CFQ-R) and lung clearance index (LCI) were performed. Results: Sixty children were recruited with a median (IQR) age of 13.3 (11.4–15.4) years. Absolute change in FEV1pp from baseline to 12th month as median (IQR) was +1% (-6.75–9.75) in HSG and -2.50% (-7.50–3.25) in UCG (p = 0.10). Sensitivity analysis including only adherent children in HSG (n = 22), yielded an increase of 5% (-3.50–12) in HSG and a decrease of 2.50% (-7.50–3.25) in UCG (p = 0.009). A total of 29 (96.7%) subjects in HSG and 23 (76.7%) in UCG had PEx (p = 0.05). Absolute change in median (IQR) LCI2.5 from baseline to the 12th month was -1.6 [-2.9–0] (p<0.001) in HSG and -1.5 [-2.8-(-0.6)] (p<0.001) in UCG (p = 0.94). There was a significant increase in the social domain of the CFQ-R in HSG (from 59.1 to 76.2, p = 0.01). Conclusions: Electronic home monitoring of children with CF by spirometry may result in improvement in lung function.Publication Open Access Sweat Testing and Recent Advances(FRONTIERS MEDIA SA, 2021-05-04) KARADAĞ, BÜLENT TANER; Gokdemir, Yasemin; Karadag, Bulent TanerCystic fibrosis (CF) is the most common fatal genetic disease of the Caucasian population. Sweat testing is the principal diagnostic test for CF, and it is used for the evaluation of infants with positive CF newborn screening (NBS) and in patients with clinical findings suggesting CF. This article describes the classical sweat test method in detail and also provides an overwiew of recent advances.Publication Open Access Incidence of SARS-CoV-2 in people with cystic fibrosis in Europe between February and June 2020(ELSEVIER, 2021-07) GÖKDEMİR, YASEMİN; Naehrlich, Lutz; Orenti, Annalisa; Dunlevy, Fiona; Kasmi, Irena; Harutyunyan, Satenik; Pfleger, Andreas; Keegan, Svetlana; Daneau, Geraldine; Petrova, Guergana; Tjesic-Drinkovic, Duska; Yiallouros, Panayioti; Bilkova, Alena; Olesen, Hanne Vebert; Burgel, Pierre-Regis; Parulava, Tsitsino; Diamantea, Filia; Parniczky, Andrea; McKone, Edward F.; Mei-Zahav, Meir; Salvatore, Marco; Colombo, Carla; Aleksejeva, Elina; Malakauskas, Kestutis; Schlesser, Marc; Fustik, Stojka; Turcu, Oxana; Zomer-van Ommen, Domenique; Wathne, Anita Senstad; Wozniacki, Lukasz; Pereira, Luisa; Pop, Liviu; Kashirskaya, Nataliya; Rodic, Milan; Kayserova, Hana; Krivecs, Uro; Mondejar-Lopez, Pedro; de Monsterol, Isabelle; Dogru, Deniz; Makukh, Halyn; Cosgriff, Rebecca; van Koningsbruggen-Rietschel, Silke; Jung, Andreas; Bobrovnichy, Vladimir; Bambir, Ivan; Vukic, Andrea Dugac; Drevinek, Pavel; Macek, Milan, Jr.; Corvol, Harriet; Lemonnier-Videau, Lydie; Hatziagorou, Elpis; Fletcher, Godfrey; Padoan, Rita; Gulmans, Vincent; Bakkeheim, Egil; Kondratyeva, Elena; Amelina, Elena; Zhekaite, Elena; Simonova, Olga; Pastor-Vivero, Maria Dolores; Lindblad, Anders; Gokdemir, Yasemin; Pekcan, Sevgi; Brownlee, Keith; McClenaghan, Elliot; Carr, Siobhan; Lammertyn, Elise; Zolin, Anna; Fox, Alice; Krasnyk, Marko; Van Rens, JacquiBackground: Viral infections can cause significant morbidity in cystic fibrosis (CF). The current Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) pandemic could therefore have a serious impact on the health of people with CF (pwCF). Methods: We used the 38-country European Cystic Fibrosis Society Patient Registry (ECFSPR) to collect case data about pwCF and SARS-CoV-2 infection. Results: Up to 30 June 2020, 16 countries reported 130 SARS-CoV-2 cases in people with CF, yielding an incidence of 2.70/10 0 0 pwCF. Incidence was higher in lung-transplanted patients (n = 23) versus non transplanted patients (n = 107) (8.43 versus 2.36 cases/10 0 0). Incidence was higher in pwCF versus the age-matched general population in the age groups < 15, 15-24, and 25-49 years (p < 0.001), with similar trends for pwCF with and without lung transplant. Compared to the general population, pwCF (regardless of transplantation status) had significantly higher rates of admission to hospital for all age groups with available data, and higher rates of intensive care, although not statistically significant. Most pwCF recovered (96.2%), however 5 died, of whom 3 were lung transplant recipients. The case fatality rate for pwCF (3.85%, 95% CI: 1.26-8.75) was non-significantly lower than that of the general population (7.46%; p = 0.133). Conclusions: SARS-CoV-2 infection can result in severe illness and death for pwCF, even for younger patients and especially for lung transplant recipients. PwCF should continue to shield from infection and should be prioritized for vaccination. (c) 2021 The Authors. Published by Elsevier B.V. on behalf of European Cystic Fibrosis Society. This is an open access article under the CC BY-NC-ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ )Publication Open Access Depression and anxiety in mothers of home ventilated children before and during COVID-19 pandemic(WILEY, 2021-01) KARADAĞ, BÜLENT TANER; Ergenekon, Almala Pinar; Yegit, Cansu Yilmaz; Cenk, Muruvvet; Ikizoglu, Nilay Bas; Atag, Emine; Gokdemir, Yasemin; Eralp, Ela Erdem; Karadag, BulentBackground: Due to advances in technology, home ventilation in children has increased in recent years. The provision of proper care for a home-ventilated (HV) child can have a strong impact on the lifestyle of caregivers. The aim of this study was to evaluate the depression and anxiety levels of the mothers of HV children during the current COVID-19 pandemic and compare them to those of mothers of healthy peers. Methods: This cross-sectional study was conducted on HV children (n = 21) and a control group of healthy peers (n = 32) by means of a questionnaire completed by the mothers of the children of both groups. Psychometric scales, such as the Beck Depression Inventory (BDI), the State-Trait Anxiety Inventory-State (STAI-S), and the State-Trait Anxiety Inventory-Trait (STAI-T), were used to assess participants. Results: During the pandemic signs of depression were present in 8 (38.1%) of the case group and 8 (25%) of the healthy control group. Comparison of the BDI scores from before and during the pandemic showed no difference between mothers of the HV children (p = .09). Scores for BDI and STAI-T were higher in the case group than in the control group, whereas there was no significant difference in STAI-S scores. Conclusion: Depression and anxiety levels of mothers of HV children were found to be higher during the COVID-19 pandemic. Economic, medical, and social support resources are needed to reduce levels of depression and anxiety and help mothers of those children dependent on technology.Publication Open Access An unusual case of childhood sarcoidosis(SOC ARGENTINA PEDIATRIA, 2013-10-01) KARADAĞ, BÜLENT TANER; Gokdemir, Yasemin; Ersu, Refika; Karadag, Bulent; Karakoc, Fazilet; Kiyan, Gursu; Kaya, Handan; Kasapcopur, Ozgur; Erdem, Ela; Dagli, ElifSarcoidosis is a systemic granulomatous disease of unknown etiology that may affect many systems, mainly lungs. Most of the patients present at stages I and II lung involvement. Pulmonary infiltrates without hilar lymphadenopathy (state III) rarely occurs. Extrapulmonary organ involvement is common in pediatric sarcoidosis. The aim of this report is to present an unusual case of childhood sarcoidosis with stage III lung involvement without any extrapulmonary organ involvement. A 7-year-old girl presented with the complaints of malaise, fatigue, weight loss and dyspnea. There was patchy, bilateral ground glass view at high resolution computer tomography. Video assisted thoracoscopic lung biopsy was performed and histopathological examination showed nonnecrotising epitheloid-cell granulomas with giant cells. She did not have any hilar or extrapulmonary organ involvement and pulmonary sarcoidosis at stage III was diagnosed. Sarcoidosis should be considered in the differential diagnosis of children with interstitial lung disease.Publication Open Access Performance Evaluation of a New Coulometric Endpoint Method in Sweat Testing and Its Comparison With Classic Gibson&Cooke and Chloridometer Methods in Cystic Fibrosis(FRONTIERS MEDIA SA, 2018-05-22) KARADAĞ, BÜLENT TANER; Gokdemir, Yasemin; Vatansever, Pinar; Karadag, Bulent; Seyrekel, Tuncay; Baykan, Ozgur; Ikizoglu, Nilay Bas; Ersu, Refika; Karakoc, Fazilet; Haklar, GoncagulBackground: The objective of the study was to assess the diagnostic efficacy of the coulometric endpoint method and compare it with classic Gibson&Cooke and chloridometer methods. Methods: This study is a prospective clinical study comparing two conventional sweat testing methods with the coulometric endpoint method in previously diagnosed cystic fibrosis (CF) patients and a non-CF control group. All individuals underwent two simultaneous sweat collections. One sample of sweat, collected by the CF Delta collector coil system, was analyzed by two methods: the titrimetric Cl- measurement (Sherwood (R) Chloridometer 926S, Sherwood Scientific Ltd., Cambridge, UK) and the coulometric endpoint method (CF Delta Collection System (R), UTSAT/Turkey); the second sample was collected from the other forearm by the Gibson&Cooke method and the collected sweat was analyzed by manual titration in accordance with the Schales&Schales method. Within-run and between-run imprecisions were evaluated via Cl- concentrations of 40, 70, and 130 mmol/L samples. Results: One hundred and seventy (60 CF and 110 controls) subjects were included in the study. All three sweat test methods discriminated CF subjects from the healthy individuals. The mean difference between the coulometric endpoint and titrimetric Cl - measurement methods was -1.5 mmol/L, (95% confidence limits of agreement, ranging from -8.9 to 15.9 mmol/L); the mean difference between manual titration vs. coulometric endpoint methods was 12.8 mmol/L, (95% confidence limits of agreement ranging from -9.7 to 45.3 mmol/L) and the mean difference between the manual titration and titrimetric Cl - measurement methods was 11.3 mmol/L, (95% confidence limits of agreement ranging from -7.8 to 40.5 mmol/L) based on a Bland-Altman analysis. In the Receiver operating characteristic (ROC) analysis, made on the basis that Cl- concentration values <40 mmol/L exclude the CF diagnosis, the coulometric endpoint method resulted in 96.7% sensitivity and 100% specificity for a cut-off value of 58.5 mmol/L (AUC: 0.994; 95% CI = 0.986-1.000; p < 0.001). Conclusions: The coulometric endpoint method can be as reliable as quantitative sweat Cl- analysis and may be considered as a definitive diagnostic tool for CF.