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Publication Metadata only 268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials(Elsevier B.V., 2023) Montagnese F, de Valle K, Lemmers RJLF, Mul K, Dumonceaux J, Voermans N; 268th ENMC workshop participants.; Oflazer, Piraye; ; School of Medicine;Highlights This ENMC workshop has seen the participation of many important stakeholders working together to improve trial readiness in FSHD: patients and patients’ organizations (FSHD-Europe, FSHD-Society and FSHD Global), neuromuscular clinicians, geneticists, basic researchers, representatives of the TREAT-NMD network, the FSHD-CTRN and EMA. COMs represent useful tools for the standardized collection of clinical features but need to be selected to match the clinical setting of use. For patient care, they need to be informative, with practical and time efficient utility so as not to detract from clinical care. For clinical trial purposes, the need to be reliable, valid, meaningful and sensitive to change to better depict therapeutic responses. An optimized clinical evaluation and genetic test form is one of the goals of WG1 and 2. A diagnostic flowchart for FSHD1 and FSHD2 has been proposed. Another important unmet need for clinical trial readiness in FSHD is the identification of good therapeutic biomarkers, which ideally should be quantitative, non-invasive, applicable across the entire range of disease severity, sensitive to change, reliable and clinically meaningful. The WG 3 will produce standard operating procedures (SOPs) for DUX4 detection. Similarly, large differences in the reporting of studies performed on animal models, thus hindering interpretation, repeatability and comparison of the results need to be addressed. Guidelines regarding minimum information for publication of work including animal models for FSHD will therefore be published.Publication Open Access 3D-printed contact lenses: challenges towards translation and commercialization(Future Medicine, 2022) Yetişen, Ali K.; Department of Mechanical Engineering; Taşoğlu, Savaş; Özdalgıç, Berin; Faculty Member; PhD Student; Department of Mechanical Engineering; KU Arçelik Research Center for Creative Industries (KUAR) / KU Arçelik Yaratıcı Endüstriler Uygulama ve Araştırma Merkezi (KUAR); Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); College of Engineering; Graduate School of Sciences and Engineering; 291971; 323683NAPublication Metadata only [68Ga]Ga-PSMA-11 and [18F]FDG uptake of venous tumor thrombus in inferior vena cava and left common iliac vein from prostate cancer on positron emission tomography(Springer Science and Business Media Deutschland GmbH, 2023) Kabaoglu, Z.U.; Seymen, Hülya; Esen, Barış; Kulaç, İbrahim; Aksoy, Murat; Demirkol, Mehmet Onur; Kordan, Yakup; School of MedicineN/APublication Metadata only [Ga-68]Ga-PSMA-11 and [F-18]FDG uptake of venous tumor thrombus in inferior vena cava and left common iliac vein from prostate cancer on positron emission tomography(Springer, 2023) Kabaoğlu, Zeynep Ünal; N/A; Seymen, Hülya; Esen, Barış; Kulaç, İbrahim; Aksoy, Murat; Demirkol, Mehmet Onur; Kordan, Yakup; Teaching Faculty; Teaching Faculty; Faculty Member; Other; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; 350778; 199167; 170305; N/A; 196946; 157552N/APublication Open Access A 19-year-old pregnant woman with pulmonary hypertension with progressive dyspnea(Elsevier, 2021) Avcı, Burçak Kılıçkıran; Tok, Özge Özden; Öngen, Zeki; Bozkaya, Tijen Alkan; Kalangos, Afksendiyos; Doctor; Faculty Member; School of Medicine; Koç University Hospital; N/A; 286247Case presentation: a 19-year-old pregnant woman at week 32 of gestation was referred to our clinic with progressive shortness of breath for the further evaluation and treatment of high-risk pregnancy. Her complaints had been existing since her childhood. Two years prior to her admission, she had been diagnosed with heart failure with preserved ejection fraction due to cardiomyopathy and associated pulmonary hypertension. The patient had no family history of any cardiac disease. She had never smoked or drunk alcohol. Her clinical condition had deteriorated progressively with the pregnancy.Publication Metadata only A glimpse into the future of TAVR(Wiley-Blackwell, 2016) Marmagkiolis, Konstantinos; N/A; Çilingiroğlu, Mehmet; Other; School of Medicine; Koç University Hospital; N/AImportant differences still exist in the management of patients who receive TAVR in Europe and in the USA. Provisional participation of cardiovascular surgeons and imaging cardiologists, use of TEE, general anesthesia with endotracheal intubation, and length of stay are some of the major differences which may define the future of TAVR in the USA. TAVR procedure will most likely be performed without CT surgery presence and with limited echocardiographic imaging guidance in USA in the near future as it is already being done in Europe.Publication Metadata only A global brand management roadmap(Elsevier, 2012) Batra, Rajeev; Chattopadhyay, Amitava; ter Hofstede, Frenkel; Department of Business Administration; Tunalı, Ayşegül Özsomer; Faculty Member; Department of Business Administration; College of Administrative Sciences and Economics; 108158N/APublication Metadata only A late preterm infant with progressive respiratory distress(Marmara Univ, Fac Medicine, 2017) N/A; Gürsoy, Tuğba; Faculty Member; School of Medicine; Koç University Hospital; 214691A 2300 g female baby was born at 36+4 gestational age via caesarean section. Prenatal history was unremarkable. At 2 hours of age the baby was transferred to neonatal intensive care unit due to progressive respiratory distress and received poractant alfa as intubation-surfactant-extubation therapy after which FiO2 requirement decreased from 0.50 to 0.25. At 34 hours of age, while she was still on nasal continuous positive airway pressure (CPAP), she had sudden deterioration with retractions, desaturation and bradycardia. The infant was immediately intubated and put on high frequency oscillatory ventilation (HFOV) after which her oxygen saturations and heart rate stabilized.Publication Open Access A new prognostic model for primary sclerosing cholangitis(Aves, 2019) Acar, Sencan; N/A; Akyıldız, Murat; Faculty Member; School of MedicinePublication Metadata only A new risk factor for cardiovascular disease and associated risk factors: education(Wiley-Blackwell, 2015) N/A; N/A; Bertelsen, Nathan; Kanbay, Mehmet; Faculty Member; Faculty Member; School of Medicine; School of Medicine; N/A; 110580N/A