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Öğe Acute Necrotizing Encephalopathy of Childhood Associated With A Novel Influenza Type A Virus: A Case Report(2014) Kartal, Ayşe; Şahin, Akkız; Pekcan, Sevgi; Aydın, KürşadAkut Nekrotizan Ensefalit, akut ateşli hastalıkların sıklıkla da viral enfeksiyonların tetiklediği nadir görülen bir ensefalopati formudur. Bu sendrom özellikle talamus, beyin sapı, beyincik ve beyaz maddeyi içeren multifokal simetrik beyin lezyonların varlığı ile karakterizedir. En yaygın anormallikler artmış serum aminotransferaz aktivitesi ve artmış beyin omurilik sıvısı proteini düzeyidir. Hastalığın etyolojisi ve patogenezisi tam olarak bilinememektedir ve spesifik bir tedavisi ve korunma yöntemi yoktur. Prognoz genellikle kötüdür ve hastaların %10'undan azı tamamen iyileşir. Tanı genellikle karakteristik nörögörüntüleme bulguları ile konulur. Biz İnfluenza A enfeksiyonun neden olduğu ve Akut Nekrotizan Ensefalitin tipik klinik ve radyolojik özelliklerini taşıyan 8 yaşındaki olguyu sunarak, influenza enfeksiyonlarının bu nadir ve ciddi formuna dikkat çekmek istedik.Öğe Acute Necrotizing Encephalopathy of Childhood Associated With A Novel Influenza Type A Virus: A Case Report(İnönü Üniversitesi Tıp Fakültesi Dergisi, 2014) Kartal, Ayşe; Şahin, Akkız; Pekcan, Sevgi; Aydın, KürşadAcute necrotizing encephalopathy of childhood is a rare, clinically distinct entity of acute encephalopathy triggered by acute febrile diseases, mostly viral infections. This syndrome is characterized by the presence of multifocal symmetrical brain lesions involving mainly thalami, brainstem, cerebellum and white matter. The most common abnormalities are an increased level of serum aminotransferase activity and cerebrospinal fluid protein. The etiology and pathogenesis remain unknown and there is no specific therapy or prevention. The prognosis is usually poor and less than 10% of patients recover completely. Diagnosis is made mainly by the characteristic findings of neuroimaging. We describe a case of a young child who was infected with a novel influenza A virus and displayed the characteristic clinical features and neuroimaging findings of acute necrotizing encephalopathy. Influenza is generally considered as a benign illness, but phsysicians should be aware of this unusual presentation of influenza infection.Öğe Acute necrotizing encephalopathy of childhood associated with a novel ınfluenza type a virus: a case report(İnönü Üniversitesi Tıp Fakültesi Dergisi, 2014) Kartal, Ayşe; Şahin, Akkız; Pekcan, Sevgi; Aydın, KürşadAkut Nekrotizan Ensefalit, akut ateşli hastalıkların sıklıkla da viral enfeksiyonların tetiklediği nadir görülen bir ensefalopati formudur. Bu sendrom özellikle talamus, beyin sapı, beyincik ve beyaz maddeyi içeren multifokal simetrik beyin lezyonların varlığı ile karakterizedir. En yaygın anormallikler artmış serum aminotransferaz aktivitesi ve artmış beyin omurilik sıvısı proteini düzeyidir. Hastalığın etyolojisi ve patogenezisi tam olarak bilinememektedir ve spesifik bir tedavisi ve korunma yöntemi yoktur. Prognoz genellikle kötüdür ve hastaların %10’undan azı tamamen iyileşir. Tanı genellikle karakteristik nörögörüntüleme bulguları ile konulur. Biz İnfluenza A enfeksiyonun neden olduğu ve Akut Nekrotizan Ensefalitin tipik klinik ve radyolojik özelliklerini taşıyan 8 yaşındaki olguyu sunarak, influenza enfeksiyonlarının bu nadir ve ciddi formuna dikkat çekmek istedik.Öğe CFTR mutations unidentified in CFTR2 database and their phenotypic characteristics: Data from cystic fibrosis registry of Turkey(European Respiratory Soc Journals Ltd, 2020) Cinel, Guzin; Dogru, Deniz; Cakir, Erkan; Eyuboglu, Tugba Sismanlar; Cobanoglu, Nazan; Pekcan, Sevgi; Yalcin, Ebru[Abstract Not Available]Öğe Clinical features and accompanying findings of Pseudo-Bartter Syndrome in cystic fibrosis(Wiley, 2020) Sismanlar Eyuboglu, Tugba; Dogru, Deniz; Cakir, Erkan; Cobanoglu, Nazan; Pekcan, Sevgi; Cinel, Guzin; Yalcin, EbruBackground Pseudo-Bartter syndrome (PBS) is a rare complication of cystic fibrosis (CF) and there are limited data in the literature about it. We aimed to compare clinical features and accompanying findings of patients with PBS in a large patient population. Methods The data were collected from the Cystic Fibrosis Registry of Turkey where 1170 CF patients were recorded in 2017. Clinical features, diagnostic test results, colonization status, complications, and genetic test results were compared in patients with and without PBS. Results Totally 1170 patients were recorded into the registry in 2017 and 120 (10%) of them had PBS. The mean age of diagnosis and current age of patients were significantly younger and newborn screening positivity was lower in patients with PBS (P < .001). There were no differences between the groups in terms of colonization status, mean z-scores of weight, height, BMI, and mean FEV1 percentage. Types of genetic mutations did not differ between the two groups. Accompanying complications were more frequent in patients without PBS. Conclusion PBS was detected as the most common complication in the registry. It could be due to warm weather conditions of our country. It is usually seen in younger ages regardless of mutation phenotype and it could be a clue for early diagnosis of CF.Öğe Clinical findings of patients with cystic fibrosis according to newborn screening results(Wiley, 2022) Gursoy, Tugba Ramasli; Aslan, Ayse Tana; Asfuroglu, Pelin; Eyuboglu, Tugba Sismanlar; Cakir, Erkan; Cobanoglu, Nazan; Pekcan, SevgiBackground Cystic fibrosis (CF) is a lethal recessive genetic disease caused by loss of function associated with mutations in the CF trans-membrane conductance regulator. It is highly prevalent (approximately 1 in 3,500) in Caucasians. The aim of this study was to compare demographic and clinical features, diagnostic tests, treatments, and complications of patients with CF whose newborn screening (NBS) with twice-repeated immune reactive trypsinogen testing was positive, normal, and not performed. Methods In this study, 359 of all 1,488 CF patients recorded in the CF Registry of Turkey in 2018, who had been born through the process of NBS, were evaluated. Demographic and clinical features were compared in patients diagnosed with positive NBS (Group 1), normal (Group 2), or without NBS (Group 3). Results In Group 1, there were 299 patients, in Group 2, there were 40 patients, and in Group 3, there were 20 patients. Among all patients, the median age at diagnosis was 0.17 years. The median age at diagnosis was higher in Groups 2 and 3 than in Group 1 (P = 0.001). Fecal elastase results were higher in Group 2 (P = 0.033). The weight z-score was lower and chronic Staphylococcus aureus infection was more common in Group 3 (P = 0.017, P = 0.004, respectively). Conclusions Frequency of growth retardation and chronic S. aureus infection can be reduced with an early diagnosis using NBS. In the presence of clinical suspicion in patients with normal NBS, further analyses such as genetic testing should be performed, especially to prevent missing patients with severe mutations.Öğe Cystic fibrosis in Turkey: First data from the national registry(Wiley, 2020) Dogru, Deniz; Cakir, Erkan; Sismanlar, Tugba; Cobanoglu, Nazan; Pekcan, Sevgi; Cinel, Guzin; Yalcin, EbruBackground Cystic fibrosis (CF) care has been implemented in Turkey for a long time; however, there had been no patient registry. For this purpose, the Turkish National CF Registry was established. We present the first results of registry using data collected in 2017. Methods The data were collected using a data-entry software system, which was accessed from the internet. Demographic and annually recorded data consisted of 15 and 79 variables, respectively. Results There were 1170 patients registered from 23 centers; the estimated coverage rate was 30%. The median age at diagnosis was 1.7 years (median current age: 7.3 years); 51 (4.6%) patients were aged over 18 years. Among 293 patients who were under 3 years of age, 240 patients (81.9%) were diagnosed through newborn screening. Meconium ileus was detected in 65 (5.5%) patients. Genotyping was performed in 978 (87.4%) patients and 246 (25.2%) patients' mutations were unidentified. The most common mutation was deltaF508 with an allelic frequency of 28%, followed by N1303K (4.9%). The median FEV1% predicted was 86. Chronic colonization with Pseudomonas aeruginosa was seen in 245 patients. The most common complication was pseudo-Bartter syndrome in 120 patients. The median age of death was 13.5 years in a total of 15 patients. Conclusions Low coverage rate, lack of genotyping, unidentified mutations, and missing data of lung functions are some of our greatest challenges. Including data of all centers and reducing missing data will provide more accurate data and help to improve the CF care in Turkey in the future.Öğe Cystic Fibrosis Patients Eligible for Modulator Drugs: Data from Cystic Fibrosis Registry of Turkey(European Respiratory Soc Journals Ltd, 2019) Cobanoglu, Fatma Nazan; Ersoz, Deniz Dogru; Cakir, Erkan; Eyuboglu, Tugba Sismanlar; Pekcan, Sevgi; Cinel, Guzin; Yalcin, Ebru[Abstract Not Available]Öğe Geographical barriers to timely diagnosis of cystic fibrosis and anxiety level of parents during newborn screening in Turkey(Wiley, 2021) Gokdemir, Yasemin; Eyuboglu, Tugba Sismanlar; Emiralioglu, Nagehan; Er, Berrin; Sen, Velat; Pekcan, Sevgi; Ergenekon, Almala PinarBackground Despite the availability of cystic fibrosis (CF) screening countrywide, diagnostic delay is still a crucial issue. The objectives of this study were to explore the stages of the NBS process, determine the risk factors associated with diagnostic delay and evaluate parent anxiety and experience throughout the process. Methods This is a multicenter cross-sectional study. A questionnaire was completed by parents of newborns diagnosed with CF via NBS in 17 centers. Socio-demographic characteristics, parent knowledge and experiences related to NBS, sweat test availability in the region of residence, and time to the definitive CF diagnosis were assessed through this questionnaire. Parents' anxiety levels were evaluated through the State-Trait Anxiety Inventory scales 1 and 2. Delayed diagnosis (DD) was defined as a definite CF diagnosis beyond the 8th week of life. Predictors of delayed CF diagnosis were evaluated by univariate and multivariate analysis. Results A total of 220 CF patients diagnosed via NBS were enrolled; 82 (37.3%) babies had DD. Multivariable analysis indicated that residence in the Southeast Anatolia region of Turkey (OR = 10.79, 95% CI = 2.37-49.2) was associated with a higher incidence of DD compared with other regions in Turkey. Of the total, 216 (98.1%) of the caregivers regarded the NBS program as useful and 180 (82%) reported high anxiety levels. Conclusion The organization of newborn screening should take into account regional and socio-cultural characteristics to improve the early diagnosis of CF and also reduce the anxiety level of parents.Öğe Hospital-based multicenter study in Turkey: The atopic effect on the progress of viral pneumonia(European Respiratory Soc Journals Ltd, 2015) Bahceci, Semiha; Can, Demet; Girit, Saniye; Catal, Ferhat; Sen, Velat; Pekcan, Sevgi; Yuksel, Hasan[Abstract Not Available]Öğe Nekrotizan ensefalopati: bir olgu sunumu(İnönü Üniversitesi Tıp Fakültesi Dergisi, 2014) Kartal, Ayşe; Şahin, Akkız; Pekcan, Sevgi; Aydın, KürşadAkut Nekrotizan Ensefalit, akut ateşli hastalıkların sıklıkla da viral enfeksiyonların tetiklediği nadir görülen bir ensefalopati formudur. Bu sendrom özellikle talamus, beyin sapı, beyincik ve beyaz maddeyi içeren multifokal simetrik beyin lezyonların varlığı ile karakterizedir. En yaygın anormallikler artmış serum aminotransferaz aktivitesi ve artmış beyin omurilik sıvısı proteini düzeyidir. Hastalığın etyolojisi ve patogenezisi tam olarak bilinememektedir ve spesifik bir tedavisi ve korunma yöntemi yoktur. Prognoz genellikle kötüdür ve hastaların %10’undan azı tamamen iyileşir. Tanı genellikle karakteristik nörögörüntüleme bulguları ile konulur. Biz İnfluenza A enfeksiyonun neden olduğu ve Akut Nekrotizan Ensefalitin tipik klinik ve radyolojik özelliklerini taşıyan 8 yaşındaki olguyu sunarak, influenza enfeksiyonlarının bu nadir ve ciddi formuna dikkat çekmek istedik.Öğe Patients eligible for modulator drugs: Data from cystic fibrosis registry of Turkey(Wiley, 2020) Cobanoglu, Nazan; Ozcelik, Ugur; Cakir, Erkan; Eyuboglu, Tugba Sismanlar; Pekcan, Sevgi; Cinel, Guzin; Yalcin, EbruBackground A better understanding of cystic fibrosis transmembrane conductance regulator biology has led to the development of modulator drugs such as ivacaftor, lumacaftor-ivacaftor, tezacaftor-ivacaftor, and elexacaftor-tezacaftor-ivacaftor. This cross-sectional study evaluated cystic fibrosis (CF) patients eligible for modulator drugs. Methods Data for age and genetic mutations from the Cystic Fibrosis Registry of Turkey collected in 2018 were used to find out the number of patients who are eligible for modulator therapy. Results Of registered 1488 CF patients, genetic analysis was done for 1351. The numbers and percentages of patients and names of the drugs, that the patients are eligible for, are as follows: 122 (9.03%) for ivacaftor, 156 (11.54%) for lumacaftor-ivacaftor, 163 (11.23%) for tezacaftor-ivacaftor, and 57 (4.21%) for elexacaftor-tezacaftor-ivacaftor. Among 1351 genotyped patients total of 313 (23.16%) patients are eligible for currently licensed modulator therapies (55 patients were shared by ivacaftor and tezacaftor-ivacaftor, 108 patients were shared by lumacaftor-ivacaftor and tezacaftor-ivacaftor, and 22 patients were shared by tezacaftor-ivacaftor and elexacaftor-tezacaftor-ivacaftor groups). Conclusions The present study shows that approximately one-fourth of the registered CF patients in Turkey are eligible for modulator drugs. As, frequent mutations that CF patients have in Turkey are different from North American and European CF patients, developing modulator drugs effective for those mutations is necessary. Furthermore, as modulator drugs are very expensive currently, financial support of the government in developing countries like Turkey is noteworthy.Öğe Use of laryngeal mask airway in flexible bronchoscopy in children(2019) Arican, Sule; Pekcan, Sevgi; Hacibeyoglu, Gulcin; Tavlan, Aybars; Atay, Turgay; Kolsuz Erdem, Feyza; Tuncer Uzun, SemaAim: Flexible bronchoscope is widely used by pediatric pulmonologists as a diagnostic and therapeutic tool. The objective of this study was to present our anesthesia experience in pediatric flexible bronchoscopy in which airway management was provided with laryngeal mask airway (LMA) and the complications developed.Material and Methods: This study was conducted in children aged between 2-15 years who underwent bronchoscopy for diagnosis and/or treatment between January 2017 and November 2018. Patients’ demographic data, diagnosis, anesthesia and airway management were recorded from the patient files. Times of anesthesia, operation and recovery were recorded. Complications during the procedure, awakening and recovery were recorded. Patients’ sore throat and hoarseness during resting and swallowing were recorded. Results: This study included 31 patients whose airway management was provided with LMA. The mean age was 8.58±4.14 years. Persistent cough was the most common indication for bronchoscopy (35.5%). Anesthesia time was 15.46±10.99 minutes, bronchoscopy time 12.87±10.57, awakening time 16.38±4.53 minutes, and recovery time 23.32±10.24 minutes. The most common complication was cough (45.2%). Sore throats of the patients were observed as mild and moderate at the 0th and 2th hours. Both resting and swallowing sore throats were observed as mild at the 4th hour, while no sore throat was seen in any patient at the 12th hour. Hoarseness was observed at mild level in 4 patients (12.9%) at the 0th hour.Conclusion: Providing airway with LMA in pediatric flexible bronchoscopy applications offers a safe anesthetic management, and it has a low rate of complications.Keywords: Flexible bronchoscopy; pediatric bronchoscopy; laryngeal mask airway.
