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Permanent URI for this collectionhttps://hdl.handle.net/20.500.14288/3
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Publication Metadata only Machine-learning-based prediction of disability progression in multiple sclerosis: an observational, international, multi-center study(Public Library of Science, 2024) De Brouwer, Edward; Becker, Thijs; Werthen-Brabants, Lorin; Dewulf, Pieter; Iliadis, Dimitrios; Dekeyser, Cathérine; Laureys, Guy; Van Wijmeersch, Bart; Popescu, Veronica; Dhaene, Tom; Deschrijver, Dirk; Waegeman, Willem; De Baets, Bernard; Stock, Michiel; Horakova, Dana; Patti, Francesco; Izquierdo, Guillermo; Eichau, Sara; Girard, Marc; Prat, Alexandre; Lugaresi, Alessandra; Grammond, Pierre; Kalincik, Tomas; Alroughani, Raed; Grand’Maison, Francois; Skibina, Olga; Terzi, Murat; Lechner-Scott, Jeannette; Gerlach, Oliver; Khoury, Samia J.; Cartechini, Elisabetta; Van Pesch, Vincent; Sà, Maria José; Weinstock-Guttman, Bianca; Blanco, Yolanda; Ampapa, Radek; Spitaleri, Daniele; Solaro, Claudio; Maimone, Davide; Soysal, Aysun; Iuliano, Gerardo; Gouider, Riadh; Castillo-Triviño, Tamara; Sánchez-Menoyo, José Luis; Laureys, Guy; van der Walt, Anneke; Oh, Jiwon; Aguera-Morales, Eduardo; Al-Asmi, Abdullah; de Gans, Koen; Fragoso, Yara; Csepany, Tunde; Hodgkinson, Suzanne; Deri, Norma; Al-Harbi, Talal; Taylor, Bruce; Gray, Orla; Lalive, Patrice; Rozsa, Csilla; McGuigan, Chris; Kermode, Allan; Sempere, Angel Pérez; Mihaela, Simu; Simo, Magdolna; Hardy, Todd; Decoo, Danny; Hughes, Stella; Grigoriadis, Nikolaos; Sas, Attila; Vella, Norbert; Moreau, Yves; Peeters, Liesbet; Altıntaş, Ayşe; ; School of Medicine;Background Disability progression is a key milestone in the disease evolution of people with multiple sclerosis (PwMS). Prediction models of the probability of disability progression have not yet reached the level of trust needed to be adopted in the clinic. A common benchmark to assess model development in multiple sclerosis is also currently lacking. Methods Data of adult PwMS with a follow-up of at least three years from 146 MS centers, spread over 40 countries and collected by the MSBase consortium was used. With basic inclusion criteria for quality requirements, it represents a total of 15, 240 PwMS. External validation was performed and repeated five times to assess the significance of the results. Transparent Reporting for Individual Prognosis Or Diagnosis (TRIPOD) guidelines were followed. Confirmed disability progression after two years was predicted, with a confirmation window of six months. Only routinely collected variables were used such as the expanded disability status scale, treatment, relapse information, and MS course. To learn the probability of disability progression, state-of-the-art machine learning models were investigated. The discrimination performance of the models is evaluated with the area under the receiver operator curve (ROC-AUC) and under the precision recall curve (AUC-PR), and their calibration via the Brier score and the expected calibration error. All our preprocessing and model code are available at https://gitlab.com/edebrouwer/ms_benchmark, making this task an ideal benchmark for predicting disability progression in MS. Findings Machine learning models achieved a ROC-AUC of 0.71 ± 0.01, an AUC-PR of 0.26 ± 0.02, a Brier score of 0.1 ± 0.01 and an expected calibration error of 0.07 ± 0.04. The history of disability progression was identified as being more predictive for future disability progression than the treatment or relapses history. Conclusions Good discrimination and calibration performance on an external validation set is achieved, using only routinely collected variables. This suggests machine-learning models can reliably inform clinicians about the future occurrence of progression and are mature for a clinical impact study. Copyright: © 2024 De Brouwer et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.Publication Metadata only Neuronal ensembles: Building blocks of neural circuits(Cell Press, 2024) Yuste, Rafael; Cossart, Rosa; Yakşi, Emre; ; School of Medicine;Neuronal ensembles, defined as groups of neurons displaying recurring patterns of coordinated activity, represent an intermediate functional level between individual neurons and brain areas. Novel methods to measure and optically manipulate the activity of neuronal populations have provided evidence of ensembles in the neocortex and hippocampus. Ensembles can be activated intrinsically or in response to sensory stimuli and play a causal role in perception and behavior. Here we review ensemble phenomenology, developmental origin, biophysical and synaptic mechanisms, and potential functional roles across different brain areas and species, including humans. As modular units of neural circuits, ensembles could provide a mechanistic underpinning of fundamental brain processes, including neural coding, motor planning, decision-making, learning, and adaptability. © 2023 Elsevier Inc.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 Metadata only The clinical and genetic characteristics of 17 cases with congenital myasthenic syndrome: data from a single center (P2-8.002)(Lippincott Williams and Wilkins, 2023) ; Yunisova, Gulshan; Akçay, Ayfer Arduç; Avcı, Şahin; Eraslan, Serpil; Kayserili, Hülya; Oflazer, Piraye; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Koç University HospitalObjective: The aim of this study to investigate the clinical and genetic features of patients with Congenital Myasthenic Syndrome (CMS) in Muscle Disease Center, Koç University Hospital, Turkey. Background: CMS is a group of hereditary disorders of impaired neuromuscular transmission characterized by fatigable muscle weakness. Design/Methods: Herein, we present the characteristics of 17 patients from 14 unrelated families. Results: The mean age (3 male, 14 female) was 18.4+13.6, the onset age ranged between the first day and the first 3 months of life in 11 cases, and 1 and 16 years in 6 patients. The most common complaints at the first 3 months were ptosis (6/11), feeding difficulty (7/11), difficulty in breathing (3/11). After the first age of life, walking late (2/6) and fatigue triggered by movement (6/6) were common. CHRNE (homozygous [c.1219+2T>G]; [c.199 G>T]; and novel [c.452_454delAGG]; heterozygous [c.1220-8+8dup and c.1327–1327delG]; [ c. .1327delG and c803-2AA and c.408+5G>A]; homozygous [c.686-2A>G]; [c.44C>T, p.]) (3 patients) and CHAT ([c.1669G>A]) (1 patient): All were ambulatory and had good response to pyridostigmine. COLQ (homozygous [14–15 exons] deletion and c.44G>A,) (3 patients ): Two siblings worsened under pyridostigmine, and had a marked response to salbutamol. The other one benefited from 3,4-diaminopyridine. AchR epsilon subunit (combined heterozygous [L240I and C302Y]) (1 patient):, She showed respiratory distress and markedly response to pyridostigmine. AGRN (novel,homozygous [c.5387G>A and C4217 A>C]) (1 Patient). She had fatigue and worsened with pyridostigmine and had a dramatic response from salbutamol. Conclusions: In our study, similar to many studies, the most common findings were ocular and bulbar symptoms, and the most common genetic disorder was postsynaptic (65%) conduction defects. Disclosure: Dr. Yunisova has nothing to disclose. Dr. ARDUC AKCAY has nothing to disclose. Dr. Avci has nothing to disclose. The institution of Dr. Eraslan has received research support from THE SCIENTIFIC AND TECHNOLOGICAL RESEARCH COUNCIL OF TURKEY. Prof. Kayserili has received research support from TUBITAK . Prof. Kayserili has received personal compensation in the range of $500-$4,999 for serving as a Projecct PI, advisor, researccher with TUBITAK . Prof. University has nothing to disclose.Publication Metadata only Do comorbidities and triggers expedite chronicity in migraine?(Wolters Kluwer Medknow Publications, 2023) Özçelik, Emel Ur; Karaci, Rahsan; Domac, Fuesun Mayda; Iskender, Mustafa; Ozge, Aynur; Uluduz, Derya; ; School of Medicine;Background and Aim: Several factors are suggested to be associated with an increased risk of transforming from episodic migraine (EM) to chronic migraine (CM). We aimed to examine whether some specific attack triggers and comorbidities were associated with CM. Methods: Patients followed up with a diagnosis of definite migraine for at least 1 year were divided into two groups, EM (<15 attacks per month) and CM (>15 attacks per month). The demographic and clinical data, attack-triggering factors, and comorbid diseases were compared between the groups. Results: A total of 403 (286 females) patients were analyzed; 227 (56.3%) of the migraineurs had EM and 176 (43.7%) had CM. The mean age was 40.9 +/- 11.3 years in EM, and 42.2 +/- 11.7 years in CM. Disease duration was longer in CM compared with EM (P = 0.007). Missing meals (P = 0.044), exposure to heavy scents/perfumes (P = 0.012), intense physical activity (P = 0.037), and withdrawal of caffeine (P = 0.012) were reported significantly higher in CM than in EM. Comorbid history of medication overuse (P < 0.001), hypertension (P = 0.048), hyperlipidemia (P = 0.025), depression (P = 0.021), chronic painful health problems (P = 0.003), iron deficiency anemia (P = 0.006), and history of surgery (P = 0.006) were found significantly high in CM. Conclusion: This study demonstrates that attack-triggering factors, vascular comorbidities, depression, medication overuse, and chronic painful health problems pose significant risks for CM. Vascular comorbidities are independent risk factors for chronification in migraine and might increase the patient's lifetime morbidity and mortality. Therefore, prompt diagnosis of migraine before the transformation to chronicity and effective early management have the utmost importance.Publication Metadata only Reliability and validity of the Turkish version of the 39-item parkinson disease questionnaire(Literatura Medica, 2023) Dereli, Elif Elçin; Kayapınar Aylak, Emine Eda; Bilge, Tuba Kayapınar; Çakmak, Özgür Öztop; Ertan, Fatoş Sibel; Taşkıran, Özden Özyemişçi; ; School of Medicine; Koç University HospitalBackground and purpose - This study aims to investigate the validity and reliability of the Turkish Version of the 39-item Parkinson Disease Questionnaire. Methods - A total of 100 patients with Parkinson's disease who were admitted to the outpatient neurology clinic in Koc University and Istanbul University were enrolled. 39-item Parkinson Disease Questionnaire, Parkinson Disease Quality of Life Questionnaire, Unified Parkinson's Disease Rating Scale, Hoehn-Yahr Scale, and Short Form Health Survey-36 were administered to all participants. 39-item Parkinson Disease Questionnaire was repeated 2 weeks later. Results - The internal consistency coefficient of the 39-item Parkinson Disease Questionnaire was 0.957. Test-retest correlation ranged between r = 0.693-0.979. Reliability of Turkish version of the 39-item Parkinson Disease Questionnaire was found to be very high with the exclusion of one item (30(th) item). The scale was found to be consistent over time and correlated positively with Hoehn-Yahr Scale, and negatively with Unified Parkinson's Disease Rating Scale, Parkinson Disease Quality of Life Questionnaire, and Short Form Health Survey-36. Conclusion - Turkish version of the 39-item Parkinson Disease Questionnaire, with the exclusion of the 30th item can be used reliably in assessing the quality of life of Parkinson's patients.