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1. A comprehensive analysis of germline predisposition to early-onset ovarian cancer

Author

Horackova, Klara, Zemankova, Petra, Nehasil, Petr, Vocka, Michal, Hovhannisyan, Milena, Matejkova, Katerina, Janatova, Marketa, Cerna, Marta, Kleiblova, Petra, Jelinkova, Sandra, Stastna, Barbora, Just, Pavel, Dolezalova, Tatana, Nemcova, Barbora, Urbanova, Marketa, Koudova, Monika, Hazova, Jana, Machackova, Eva, Foretova, Lenka, Stranecky, Viktor, Zikan, Michal, Kleibl, Zdenek, and Soukupova, Jana

Published
2024
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2. A comprehensive analysis of germline predisposition to early-onset ovarian cancer

Author

Klara Horackova, Petra Zemankova, Petr Nehasil, Michal Vocka, Milena Hovhannisyan, Katerina Matejkova, Marketa Janatova, Marta Cerna, Petra Kleiblova, Sandra Jelinkova, Barbora Stastna, Pavel Just, Tatana Dolezalova, Barbora Nemcova, Marketa Urbanova, Monika Koudova, Jana Hazova, Eva Machackova, Lenka Foretova, Viktor Stranecky, Michal Zikan, Zdenek Kleibl, and Jana Soukupova

Subjects
Ovarian cancer, Early-onset, Germline whole exome sequencing, Polygenic risk score, HLA, Mutation burden, Medicine, Science
Abstract

Abstract The subset of ovarian cancer (OC) diagnosed ≤ 30yo represents a distinct subgroup exhibiting disparities from late-onset OC in many aspects, including indefinite germline cancer predisposition. We performed DNA/RNA-WES with HLA-typing, PRS assessment and survival analysis in 123 early-onset OC-patients compared to histology/stage-matched late-onset and unselected OC-patients, and population-matched controls. Only 6/123(4.9%) early-onset OC-patients carried a germline pathogenic variant (GPV) in high-penetrance OC-predisposition genes. Nevertheless, our comprehensive germline analysis of early-onset OC-patients revealed two divergent trajectories of potential germline susceptibility. Firstly, overrepresentation analysis highlighted a connection to breast cancer (BC) that was supported by the CHEK2 GPV enrichment in early-onset OC(p = 1.2 × 10–4), and the presumably BC-specific PRS313, which successfully stratified early-onset OC-patients from controls(p = 0.03). The second avenue pointed towards the impaired immune response, indicated by LY75-CD302 GPV(p = 8.3 × 10–4) and diminished HLA diversity compared with controls(p = 3 × 10–7). Furthermore, we found a significantly higher overall GPV burden in early-onset OC-patients compared to controls(p = 3.8 × 10–4). The genetic predisposition to early-onset OC appears to be a heterogeneous and complex process that goes beyond the traditional Mendelian monogenic understanding of hereditary cancer predisposition, with a significant role of the immune system. We speculate that rather a cumulative overall GPV burden than specific GPV may potentially increase OC risk, concomitantly with reduced HLA diversity.

Published
2024
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3. MOOC Cubes and Clouds - Cloud Native Open Data Sciences for Earth Observation

Author

P. J. Zellner, M. Claus, T. Dolezalova, R. O. Balogun, J. Eberle, H. Hodam, R. Eckardt, S. Meißl, A. Jacob, and A. Anghelea

Subjects
Technology, Engineering (General). Civil engineering (General), TA1-2040, Applied optics. Photonics, TA1501-1820
Abstract

The "Cubes and Clouds" Massive Open Online Course (MOOC) addresses the growing challenges and opportunities in Earth Observation (EO) data analysis posed by the exponential growth of satellite missions and data volumes. This course introduces cloud-native EO concepts and open science principles, facilitating collaboration and data sharing within the EO community.Key topics covered in the MOOC include data discovery, processing workflows, and data sharing using real-world examples like snow cover mapping in the Alps. Participants engage with interactive lessons, videos, and hands-on coding exercises, leveraging freely available geospatial data and emphasizing open data principles and interoperability.The course infrastructure seamlessly integrates with cloud platforms like the Copernicus Data Space Ecosystem, enabling learners to apply concepts in a practical, cloud-based environment. Initial user statistics indicate strong interest, particularly among early-career professionals and researchers, with participant surveys suggesting increased confidence in using EO cloud platforms and embracing open science practices upon course completion.Overall, "Cubes and Clouds" serves as a valuable resource for the EO community, fostering transparency, collaboration, and innovation in geospatial science. Future developments aim to expand course content and attract diverse user groups, ensuring broader accessibility and long-term impact in advancing cloud-native EO and open science initiatives.

Published
2024
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4. Differentiability almost everywhere of weak limits of bi-Sobolev homeomorphisms

Author

Doležalová, Anna and Molchanova, Anastasia

Subjects
Mathematics - Functional Analysis, 46E35
Abstract

This paper investigates the differentiability of weak limits of bi-Sobolev homeomorphisms. Given $p>n-1$, consider a sequence of homeomorphisms $f_k$ with positive Jacobians $J_{f_k} >0$ almost everywhere and $\sup_k(\|f_{k}\|_{W^{1,n-1}} + \|f_{k}^{-1}\|_{W^{1,p}}) <\infty$. We prove that if $f$ and $h$ are weak limits of $f_k$ and $f_k^{-1}$, respectively, with positive Jacobians $J_f>0$ and $J_h>0$ a.e., then $h(f(x))=x$ and $f(h(y))=y$ both hold a.e.\ and $f$ and $h$ are differentiable almost everywhere.

Published
2023

5. Weak limit of homeomorphisms in $W^{1,n-1}$: invertibility and lower semicontinuity of energy

Author

Doležalová, Anna, Hencl, Stanislav, and Molchanova, Anastasia

Subjects
Mathematics - Functional Analysis
Abstract

Let $\Omega$, $\Omega'\subset\mathbb{R}^n$ be bounded domains and let $f_m\colon\Omega\to\Omega'$ be a sequence of homeomorphisms with positive Jacobians $J_{f_m} >0$ a.e. and prescribed Dirichlet boundary data. Let all $f_m$ satisfy the Lusin (N) condition and $\sup_m \int_{\Omega}(|Df_m|^{n-1}+A(|\text{cof} Df_m|)+\phi(J_f))<\infty$, where $A$ and $\varphi$ are positive convex functions. Let $f$ be a weak limit of $f_m$ in $W^{1,n-1}$. Provided certain growth behaviour of $A$ and $\varphi$, we show that $f$ satisfies the (INV) condition of Conti and De Lellis, the Lusin (N) condition, and polyconvex energies are lower semicontinuous.

Published
2022

6. Mappings of generalized finite distortion and continuity

Author

Doležalová, Anna, Kangasniemi, Ilmari, and Onninen, Jani

Subjects
Mathematics - Analysis of PDEs, Mathematics - Complex Variables, Mathematics - Functional Analysis, 30C65 (primary) 35R45 (secondary)
Abstract

We study continuity properties of Sobolev mappings $f \in W_{\mathrm{loc}}^{1,n} (\Omega, \mathbb{R}^n)$, $n \ge 2$, that satisfy the following generalized finite distortion inequality \[\lvert Df(x)\rvert^n \leq K(x) J_f(x) + \Sigma (x)\] for almost every $x \in \mathbb{R}^n$. Here $K \colon \Omega \to [1, \infty)$ and $\Sigma \colon \Omega \to [0, \infty)$ are measurable functions. Note that when $\Sigma \equiv 0$, we recover the class of mappings of finite distortion, which are always continuous. The continuity of arbitrary solutions, however, turns out to be an intricate question. We fully solve the continuity problem in the case of bounded distortion $K \in L^\infty (\Omega)$, where a sharp condition for continuity is that $\Sigma$ is in the Zygmund space $\Sigma \log^\mu(e + \Sigma) \in L^1_{\mathrm{loc}}(\Omega)$ for some $\mu > n-1$. We also show that one can slightly relax the boundedness assumption on $K$ to an exponential class $\exp(\lambda K) \in L^1_{\mathrm{loc}}(\Omega)$ with $\lambda > n+1$, and still obtain continuous solutions when $\Sigma \log^\mu(e + \Sigma) \in L^1_{\mathrm{loc}}(\Omega)$ with $\mu > \lambda$. On the other hand, for all $p, q \in [1, \infty]$ with $p^{-1} + q^{-1} = 1$, we construct a discontinuous solution with $K \in L^p_{\mathrm{loc}}(\Omega)$ and $\Sigma/K \in L^q_{\mathrm{loc}}(\Omega)$, including an example with $\Sigma \in L^\infty_{\mathrm{loc}}(\Omega)$ and $K \in L^1_{\mathrm{loc}}(\Omega)$., Comment: 37 pages, 2 figures

Published
2022
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7. A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer

Author

Jana Soukupova, Barbora Stastna, Madiha Kanwal, Jan Hojny, Petra Zemankova, Marianna Borecka, Leona Cerna, Marta Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Foretova, Ondrej Havranek, Klara Horackova, Milena Hovhannisyan, Lucie Hruskova, Stepan Chvojka, Marketa Janatova, Maria Janikova, Sandra Jelinkova, Pavel Just, Marta Kalousova, Petra Kleiblova, Marcela Kosarova, Monika Koudova, Jan Kral, Michaela Krausova, Vera Krutilkova, Eva Machackova, Katerina Matejkova, Renata Michalovska, Petr Nehasil, Barbora Nemcova, Jan Novotny, Matous Palek, Pavel Pesek, Marketa Safarikova, Ondrej Scheinost, Drahomira Springer, Lenka Stolarova, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Eva Tureckova, Kamila Vesela, Zdenka Vlckova, Michal Vocka, Tomas Zima, Libor Macurek, Zdenek Kleibl, and the CZECANCA consortium

Subjects
breast cancer, Fanconi anemia complementation group G, functional analysis, germline genetic testing, hereditary tumors, ovarian cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background Monoallelic germline pathogenic variants (GPVs) in five Fanconi anemia (FA) genes (BRCA1/FANCS, BRCA2/FANCD1, PALB2/FANCN, BRIP1/FANCJ, and RAD51C/FANCO) confer an increased risk of breast (BC) and/or ovarian (OC) cancer, but the role of GPVs in 17 other FA genes remains unclear. Methods Here, we investigated the association of germline variants in FANCG/XRCC9 with BC and OC risk. Results The frequency of truncating GPVs in FANCG did not differ between BC (20/10,204; 0.20%) and OC (8/2966; 0.27%) patients compared to controls (6/3250; 0.18%). In addition, only one out of five tumor samples showed loss‐of‐heterozygosity of the wild‐type FANCG allele. Finally, none of the nine functionally tested rare recurrent missense FANCG variants impaired DNA repair activities (FANCD2 monoubiquitination and FANCD2 foci formation) upon DNA damage, in contrast to all tested FANCG truncations. Conclusion Our study suggests that heterozygous germline FANCG variants are unlikely to contribute to the development of BC or OC.

Published
2024
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8. Prognostic value of the 5-SENSE Score to predict focality of the seizure-onset zone as assessed by stereoelectroencephalography: a prospective international multicentre validation study

Author

Patrick Kwan, Andreas Schulze-Bonhage, John Archer, Eugen Trinka, Aileen McGonigal, Fabrice Bartolomei, Piero Perucca, Andrew Neal, Sándor Beniczky, Akio Ikeda, Philippe Kahane, Samden Lhatoo, James Castellano, Benjamin Whatley, Alexandra Urban, Kristin Ikeda, Georg Zimmermann, Alexandra Astner-Rohracher, Alyssa Ho, Milan Brazdil, Melita Cacic Hribljan, Irena Dolezalova, Martin Ejler Fabricius, Mercedes Garcés-Sanchez, Kahina Hammam, Giridhar Kalamangalam, Gudrun Kalss, Mays Khweileh, Katsuya Kobayashi, Joshua Andrew Laing, Markus Leitinger, Julia Makhalova, Iona Mindruta, Mary Margaret Mizera, Irina Oane, Prachi Parikh, Francesca Pizzo, Rodrigo Rocamora, Philippe Ryvlin, Victoria San Antonio Arce, Stephan Schuele, Ana Suller Marti, Vincente Villanueva, Laura Vilella Bertran, and Birgit Frauscher

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Introduction Epilepsy surgery is the only curative treatment for patients with drug-resistant focal epilepsy. Stereoelectroencephalography (SEEG) is the gold standard to delineate the seizure-onset zone (SOZ). However, up to 40% of patients are subsequently not operated as no focal non-eloquent SOZ can be identified. The 5-SENSE Score is a 5-point score to predict whether a focal SOZ is likely to be identified by SEEG. This study aims to validate the 5-SENSE Score, improve score performance by incorporating auxiliary diagnostic methods and evaluate its concordance with expert decisions.Methods and analysis Non-interventional, observational, multicentre, prospective study including 200 patients with drug-resistant epilepsy aged ≥15 years undergoing SEEG for identification of a focal SOZ and 200 controls at 22 epilepsy surgery centres worldwide. The primary objective is to assess the diagnostic accuracy and generalisability of the 5-SENSE in predicting focality in SEEG in a prospective cohort. Secondary objectives are to optimise score performance by incorporating auxiliary diagnostic methods and to analyse concordance of the 5-SENSE Score with the expert decisions made in the multidisciplinary team discussion.Ethics and dissemination Prospective multicentre validation of the 5-SENSE score may lead to its implementation into clinical practice to assist clinicians in the difficult decision of whether to proceed with implantation. This study will be conducted in accordance with the Tri-Council Policy Statement: Ethical Conduct for Research Involving Humans (2014). We plan to publish the study results in a peer-reviewed full-length original article and present its findings at scientific conferences.Trial registration number NCT06138808.

Published
2024
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9. A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition

Author

Petra Zemankova, Marta Cerna, Klara Horackova, Corinna Ernst, Jana Soukupova, Marianna Borecka, Britta Blümcke, Leona Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Dvorakova, Lenka Foretova, Ondrej Havranek, Jan Hauke, Eric Hahnen, Miloslava Hodulova, Milena Hovhannisyan, Lucie Hruskova, Marketa Janatova, Maria Janikova, Sandra Jelinkova, Pavel Just, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Katerina Matejkova, Renata Michalovska, Adela Misove, Petr Nehasil, Barbora Nemcova, Jan Novotny, Ales Panczak, Pavel Pesek, Ondrej Scheinost, Drahomira Springer, Barbora Stastna, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Eva Tureckova, Kamila Vesela, Zdenka Vlckova, Michal Vocka, Barbara Wappenschmidt, Tomas Zima, Zdenek Kleibl, and Petra Kleiblova

Subjects
Deep intronic CHEK2 variant, Breast cancer, NGS, RNA analysis, Genetic testing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.Tyr337PhefsTer37).The variant was found in 21/10,204 (0.21%) Czech FBC patients compared to 1/3250 (0.03%) controls (p = 0.04) and in 4/3639 (0.11%) FBC patients from an independent German dataset. In addition, we found this variant in 5/2966 (0.17%) Czech (but none of the 443 German) ovarian cancer patients, three of whom developed early-onset tumors.Based on these observations, we classified this variant as likely pathogenic.

Published
2024
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10. Weak limit of homeomorphisms in $W^{1,n-1}$ and (INV) condition

Author

Doležalová, Anna, Hencl, Stanislav, and Malý, Jan

Subjects
Mathematics - Functional Analysis
Abstract

Let $\Omega,\Omega'\subset\mathbb{R}^3$ be Lipschitz domains, let $f_m:\Omega\to\Omega'$ be a sequence of homeomorphisms with prescribed Dirichlet boundary condition and $\sup_m \int_{\Omega}(|Df_m|^2+1/J^2_{f_m})<\infty$. Let $f$ be a weak limit of $f_m$ in $W^{1,2}$. We show that $f$ is invertible a.e., more precisely it satisfies the (INV) condition of Conti and De Lellis and thus it has all the nice properties of mappings in this class. Generalization to higher dimensions and an example showing sharpness of the condition $1/J^2_f\in L^1$ are also given. Using this example we also show that unlike the planar case the class of weak limits and the class of strong limits of $W^{1,2}$ Sobolev homeomorphisms in $\mathbb{R}^3$ are not the same.

Published
2021

11. Efficacy and safety of tocilizumab (TCZ) in patients with systemic juvenile idiopathic arthritis (sJIA): TENDER 52-week data

Author

De Benedetti Fabrizio, Brunner Hermine, Ruperto Nicola, Cuttica R, Malattia Clara, Schneider Rayfel, Woo Patricia, Eleftheriou Despina, Baildam Eileen, Burgos-Vargas Ruben, Dolezalova Pavla, Garay Stella M, Joos Rik, Wulffraat Nico, Zuber Zbyszek, Zulian Francesco, Wouters Carine, Xavier Ricardo M, Zemel Lawrence, Wright Stephen, Kenwright Andy, Martini Alberto, and Lovell Daniel

Subjects
Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Published
2012
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14. Efficacy and safety of tocilizumab (TCZ) in patients with systemic juvenile idiopathic arthritis (SJIA): tender 52-week data

Author

Espada G, Pardeo M, Chaitow J, Brown D, Allen R, Zulian F, Zuber Z, Wulffraat N, Joos R, Dolezalova P, Burgos-Vargas R, Woo P, Schneider R, Ruperto N, Brunner H, De Benedetti F, Flato B, Gerloni V, Horneff G, Wright S, Kenwright A, Lovell D, and Martini A

Subjects
Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Published
2011
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15. The Eurofever Registry for autoinflammatory diseases: results of the first 15 months of enrolment

Author

Touitou I, Woo P, Lachmann H, Dolezalova P, Rose C, Hentgen V, Wouters C, Vesely R, Stojanov S, Simon A, Arostegui J, Kummerle-Deschner J, Ozdogan H, Neven B, Girschick H, Kone-Paut I, Hofer M, De Benedetti F, Ozen S, Frenkel J, Toplak N, Martini A, Ruperto N, and Gattorno M

Subjects
Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Published
2011
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22. Case report: Insulinoma masquerades as epilepsy – quantitative EEG analysis

Author

Natalia Kostolanska, Petr Klimes, Jitka Kocvarova, Hana Pikulova, Ondrej Strycek, Milan Brazdil, and Irena Dolezalova

Subjects
hypoglycemia, insulinoma, acute symptomatic seizures, epilepsy, EEG postprocessing, Neurology. Diseases of the nervous system, RC346-429
Abstract

Insulinomas are rare gastrointestinal tumors with an incidence of 1–3 per million inhabitants annually. These tumors result in excessive insulin production, culminating in hypoglycemia. Such hypoglycemia triggers various central nervous system (CNS) manifestations, including headache, confusion, abnormal behavior, and epileptic seizures, which can lead to misdiagnosis as epilepsy. This case report documents a 46-year-old male who presented seizure-like episodes. Episodes occurred mainly during the night, lasting several minutes to hours. Initial seizures were characterized by bizarre behavior and altered responsiveness. Over time, seizure frequency, complexity, and severity escalated. We managed to record two episodes during long-term EEG and report, as the first ones, the detailed quantitative EEG analysis of these hypoglycemia-related events. EEG changes preceded the development of clear-cut pathological motor activity in tens of minutes and were present in all investigated frequency bands. The development of profound motor activity was associated with other increases in EEG power spectra in all frequencies except for delta. The most pronounced changes were found over the left temporal region, which can be the most susceptible to hypoglycemia. In our patient, the seizure-like episodes completely disappeared after the insulinoma removal, which demonstrates their relationship to hypoglycemia.

Published
2024
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23. Entropy in scalp EEG can be used as a preimplantation marker for VNS efficacy

Author

B. Sklenarova, J. Chladek, M. Macek, M. Brazdil, J. Chrastina, T. Jurkova, P. Burilova, F. Plesinger, E. Zatloukalova, and I. Dolezalova

Subjects
Medicine, Science
Abstract

Abstract Vagus nerve stimulation (VNS) is a therapeutic option in drug-resistant epilepsy. VNS leads to ≥ 50% seizure reduction in 50 to 60% of patients, termed "responders". The remaining 40 to 50% of patients, "non-responders", exhibit seizure reduction

Published
2023
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24. Development of a dynamic type 2 diabetes risk prediction tool: a UK Biobank study

Author

Dolezalova, Nikola, Cairo, Massimo, Despotovic, Alex, Booth, Adam T. C., Reed, Angus B., Morelli, Davide, and Plans, David

Subjects
Computer Science - Machine Learning
Abstract

Diabetes affects over 400 million people and is among the leading causes of morbidity worldwide. Identification of high-risk individuals can support early diagnosis and prevention of disease development through lifestyle changes. However, the majority of existing risk scores require information about blood-based factors which are not obtainable outside of the clinic. Here, we aimed to develop an accessible solution that could be deployed digitally and at scale. We developed a predictive 10-year type 2 diabetes risk score using 301 features derived from 472,830 participants in the UK Biobank dataset while excluding any features which are not easily obtainable by a smartphone. Using a data-driven feature selection process, 19 features were included in the final reduced model. A Cox proportional hazards model slightly overperformed a DeepSurv model trained using the same features, achieving a concordance index of 0.818 (95% CI: 0.812-0.823), compared to 0.811 (95% CI: 0.806-0.815). The final model showed good calibration. This tool can be used for clinical screening of individuals at risk of developing type 2 diabetes and to foster patient empowerment by broadening their knowledge of the factors affecting their personal risk., Comment: 12 pages

Published
2021

25. Development of digitally obtainable 10-year risk scores for depression and anxiety in the general population

Author

Morelli, D., Dolezalova, N., Ponzo, S., Colombo, M., and Plans, D.

Subjects
Computer Science - Machine Learning, Statistics - Machine Learning
Abstract

The burden of depression and anxiety in the world is rising. Identification of individuals at increased risk of developing these conditions would help to target them for prevention and ultimately reduce the healthcare burden. We developed a 10-year predictive algorithm for depression and anxiety using the full cohort of over 400,000 UK Biobank (UKB) participants without pre-existing depression or anxiety using digitally obtainable information. From the initial 204 variables selected from UKB, processed into > 520 features, iterative backward elimination using Cox proportional hazards model was performed to select predictors which account for the majority of its predictive capability. Baseline and reduced models were then trained for depression and anxiety using both Cox and DeepSurv, a deep neural network approach to survival analysis. The baseline Cox model achieved concordance of 0.813 and 0.778 on the validation dataset for depression and anxiety, respectively. For the DeepSurv model, respective concordance indices were 0.805 and 0.774. After feature selection, the depression model contained 43 predictors and the concordance index was 0.801 for both Cox and DeepSurv. The reduced anxiety model, with 27 predictors, achieved concordance of 0.770 in both models. The final models showed good discrimination and calibration in the test datasets.We developed predictive risk scores with high discrimination for depression and anxiety using the UKB cohort, incorporating predictors which are easily obtainable via smartphone. If deployed in a digital solution, it would allow individuals to track their risk, as well as provide some pointers to how to decrease it through lifestyle changes., Comment: 13 pages, 2 figures, 2 tables

Published
2021

26. Development of an accessible 10-year Digital CArdioVAscular (DiCAVA) risk assessment: a UK Biobank study

Author

Dolezalova, Nikola, Reed, Angus B., Despotovic, Alex, Obika, Bernard Dillon, Morelli, Davide, Aral, Mert, and Plans, David

Subjects
Computer Science - Machine Learning
Abstract

Background: Cardiovascular diseases (CVDs) are among the leading causes of death worldwide. Predictive scores providing personalised risk of developing CVD are increasingly used in clinical practice. Most scores, however, utilise a homogenous set of features and require the presence of a physician. Objective: The aim was to develop a new risk model (DiCAVA) using statistical and machine learning techniques that could be applied in a remote setting. A secondary goal was to identify new patient-centric variables that could be incorporated into CVD risk assessments. Methods: Across 466,052 participants, Cox proportional hazards (CPH) and DeepSurv models were trained using 608 variables derived from the UK Biobank to investigate the 10-year risk of developing a CVD. Data-driven feature selection reduced the number of features to 47, after which reduced models were trained. Both models were compared to the Framingham score. Results: The reduced CPH model achieved a c-index of 0.7443, whereas DeepSurv achieved a c-index of 0.7446. Both CPH and DeepSurv were superior in determining the CVD risk compared to Framingham score. Minimal difference was observed when cholesterol and blood pressure were excluded from the models (CPH: 0.741, DeepSurv: 0.739). The models show very good calibration and discrimination on the test data. Conclusion: We developed a cardiovascular risk model that has very good predictive capacity and encompasses new variables. The score could be incorporated into clinical practice and utilised in a remote setting, without the need of including cholesterol. Future studies will focus on external validation across heterogeneous samples., Comment: 28 pages, 3 figures, 4 tables

Published
2021

27. Feasibility of using intermittent active monitoring of vital signs by smartphone users to predict SARS-CoV-2 PCR positivity

Author

Nikola Dolezalova, Effrossyni Gkrania-Klotsas, Davide Morelli, Alex Moore, Adam C. Cunningham, Adam Booth, David Plans, Angus B. Reed, Mert Aral, Kirsten L. Rennie, and Nicholas J. Wareham

Subjects
Medicine, Science
Abstract

Abstract Early detection of highly infectious respiratory diseases, such as COVID-19, can help curb their transmission. Consequently, there is demand for easy-to-use population-based screening tools, such as mobile health applications. Here, we describe a proof-of-concept development of a machine learning classifier for the prediction of a symptomatic respiratory disease, such as COVID-19, using smartphone-collected vital sign measurements. The Fenland App study followed 2199 UK participants that provided measurements of blood oxygen saturation, body temperature, and resting heart rate. Total of 77 positive and 6339 negative SARS-CoV-2 PCR tests were recorded. An optimal classifier to identify these positive cases was selected using an automated hyperparameter optimisation. The optimised model achieved an ROC AUC of 0.695 ± 0.045. The data collection window for determining each participant’s vital sign baseline was increased from 4 to 8 or 12 weeks with no significant difference in model performance (F(2) = 0.80, p = 0.472). We demonstrate that 4 weeks of intermittently collected vital sign measurements could be used to predict SARS-CoV-2 PCR positivity, with applicability to other diseases causing similar vital sign changes. This is the first example of an accessible, smartphone-based remote monitoring tool deployable in a public health setting to screen for potential infections.

Published
2023
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28. Defining criteria for disease activity states in juvenile dermatomyositis based on the Juvenile Dermatomyositis Activity Index

Author

Carine Wouters, Nicolino Ruperto, Maria Trachana, Angelo Ravelli, Veronika Vargová, Troels Herlin, Angela Pistorio, Pavla Dolezalova, Claudia Bracaglia, Alessandro Consolaro, Silvia Rosina, Ana Rebollo-Giménez, Ana Guilaisne Bernard-Medina, and Laura Carenini

Subjects
Medicine
Abstract

Objectives To develop and validate the cut-offs in the Juvenile DermatoMyositis Activity Index (JDMAI) to distinguish the states of inactive disease (ID), low disease activity (LDA), moderate disease activity (MDA) and high disease activity (HDA) in children with juvenile dermatomyositis (JDM).Methods For cut-off definition, data from 139 patients included in a randomised clinical trial were used. Among the six versions of the JDMAI, JDMA1 (score range 0–40) and JDMAI2 (score range 0–39) were selected. Optimal cut-offs were determined against external criteria by calculating different percentiles of score distribution and through receiver operating characteristic curve analysis. External criteria included the modified Pediatric Rheumatology International Trials Organization (PRINTO) criteria for clinically ID in JDM (for ID) and PRINTO levels of improvement in the clinical trial (for LDA and HDA). MDA cut-offs were set at the score interval between LDA and HDA cut-offs. Cut-off validation was conducted by assessing construct and discriminative ability in two cohorts including a total of 488 JDM patients.Results The calculated JDMAI1 cut-offs were ≤2.4 for ID, ≤6.6 for LDA, 6.7–11 for MDA and >11 for HDA. The calculated JDMAI2 cut-offs were ≤5.2 for ID, ≤8.5 for LDA, 8.6–11.3 for MDA and >11.3 for HDA. The cut-offs discriminated strongly among disease activity states defined subjectively by caring physicians and parents, parents’ satisfaction or non-satisfaction with illness outcome, levels of pain, fatigue, physical functional impairment and physical well-being.Conclusions Both JDMAI1 and JDMAI2 cut-offs revealed good metrologic properties in validation analyses and are, therefore, suited for application in clinical practice and research.

Published
2024
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29. Hausdorff measure of critical set for Luzin $N$ condition

Author

Doležalová, Anna, Hrubešová, Marika, and Roskovec, Tomáš

Subjects
Mathematics - Functional Analysis, 46E35
Abstract

It is well-known that there is a Sobolev homeomorphism $f\in W^{1,p}([-1,1]^n,[-1,1]^n)$ for any $p

Published
2020

30. On the volume of unit balls of finite-dimensional Lorentz spaces

Author

Doležalová, Anna and Vybíral, Jan

Subjects
Mathematics - Functional Analysis
Abstract

We study the volume of unit balls $B^n_{p,q}$ of finite-dimensional Lorentz sequence spaces $\ell_{p,q}^n.$ We give an iterative formula for ${\rm vol}(B^n_{p,q})$ for the weak Lebesgue spaces with $q=\infty$ and explicit formulas for $q=1$ and $q=\infty.$ We derive asymptotic results for the $n$-th root of ${\rm vol}(B^n_{p,q})$ and show that $[{\rm vol}(B^n_{p,q})]^{1/n}\approx n^{-1/p}$ for all $0

Published
2019

31. The cholinergic anti-inflammatory pathway inhibits inflammation without lymphocyte relay

Author

Thomas Simon, Joseph Kirk, Nikola Dolezalova, Mélanie Guyot, Clara Panzolini, Alexandre Bondue, Julien Lavergne, Sandrine Hugues, Nicolas Hypolite, Kourosh Saeb-Parsy, Justin Perkins, Eric Macia, Arun Sridhar, Margriet J. Vervoordeldonk, Nicolas Glaichenhaus, Matteo Donegá, and Philippe Blancou

Subjects
splenic nerve stimulation, cholinergic anti-inflammatory pathway, CD4+ T lymphocytes, myeloid cells, beta2 adrenergic receptor, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

The magnitude of innate inflammatory immune responses is dependent on interactions between peripheral neural and immune cells. In particular, a cholinergic anti-inflammatory pathway (CAP) has been identified in the spleen whereby noradrenaline (NA) released by splenic nerves binds to ß2-adrenergic receptors (β2-AR) on CD4+ T cells which, in turn, release acetylcholine (ACh). The binding of ACh to α7 acetylcholine receptors (α7-AChR) expressed by splenic macrophages inhibits the production of inflammatory cytokines, including tumor necrosis factor (TNF). However, the role of ACh-secreting CD4+ T-cells in the CAP is still controversial and largely based on the absence of this anti-inflammatory pathway in mice lacking T-cells (nude, FoxN1−/−). Using four conscious, non-lymphopenic transgenic mouse models, we found that, rather than acting on CD4+ T-cells, NA released by splenic nerve terminals acts directly onto β2-AR on splenic myeloid cells to exert this anti-inflammatory effect. We also show that, while larger doses of LPS are needed to trigger CAP in nude mouse strain compared to other strains, TNF production can be inhibited in these animals lacking CD4+ T-cell by stimulating either the vagus or the splenic nerve. We demonstrate that CD4+ T-cells are dispensable for the CAP after antibody-mediated CD4+ T-cell depletion in wild type mice. Furthermore, we found that NA-mediated inhibition of in vitro LPS-induced TNF secretion by human or porcine splenocytes does not require α7-AChR signaling. Altogether our data demonstrate that activation of the CAP by stimulation of vagus or splenic nerves in mice is mainly mediated by direct binding of NA to β2-AR on splenic macrophages, and suggest that the same mechanism is at play in larger species.

Published
2023
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32. The effects of COVID-19 on sleep and general health of Czech patients with epilepsy

Author

Jana Slonkova, Milos Chudy, Ariunjargal Togtokhjargal, Hana Tomaskova, Hana Vacovska, Gisela Rytirova, and Irena Dolezalova

Subjects
Science (General), Q1-390, Social sciences (General), H1-99
Abstract

Objectives: To assess the impact of COVID-19 illness and pandemic era on sleep, general health, health care, and social status in patients with epilepsy in the Czech Republic. Methods: Our designed and approved questionnaire consisted of 23 questions. We focused on (1) patients' demographic and epidemiological data regarding COVID-19, (2) subjective assessment of sleep; (3) epilepsy, and (4) perception of general health during the first year of the COVID-19 pandemic in the Czech Republic from March 2020 to May 2021. We administered the questionnaires during outpatient visits or by phone calls in three major university Czech epilepsy centers (Ostrava, Brno, Pilsen). Results: We enrolled 227 (100%) patients. The mean age (±SD) was 41.2 ± 14.82 years (min 18, max 86 years), and 138 (61%) were women. COVID-19 was confirmed using the PCR test method in 57 (25.1%) patients. In the pre-pandemic era, 62 (27.3%) patients reported sleep disturbances. Insomnia in 46 (74.2%) and excessive daytime sleepiness in 6 (9.7%) were the most mentioned sleep abnormalities. Nocturnal seizures predispose to sleep impairment (p = 0.014) and vivid dreams and nightmares (p = 0.033). COVID-19 infection significantly increased the risk of vivid dreams and nightmares in patients with diurnal seizures (p = 0.006). Sleep quality impairment and seizure frequency worsening [(p

Published
2023
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33. Spectroscopy of close visual binary components of the stable shell star 1 Del

Author

Kubát, Jiří, Kubátová, Brankica, Doležalová, Barbora, Iliev, Lubomir, and Šlechta, Miroslav

Subjects
Astrophysics - Solar and Stellar Astrophysics
Abstract

Stable shell stars are ideal objects for studying basic physical principles of the formation of disks in Be stars. If these stars have a close unresolved visual companion, its contribution toward the modelling of the disk cannot be overlooked, as is sometimes done. The study aims to spectroscopically resolve close visual binary Be (shell) star 1 Del, which up to now was only resolved by speckle or micrometric measurements. The integral field spectroscopy obtained by the SINFONI spectrograph at the VLT telescope in the European Southern Observatory (ESO) in the infrared region was used; we supplemented these observations with visual spectroscopy with the Perek Telescope at the Ondrejov Observatory. Spectra of 1 Del were successfully resolved, and, for the first time, spectra of 1 Del B were obtained. We found that 1 Del A is a Be/shell star, while 1 Del B is not an emission-line object., Comment: accepted to Astronomy And Astrophysics

Published
2016
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34. Does the 1 Gy dose of gamma radiation impact the pork quality?

Author

K Benova, P Dvorak, D Mate, M Spalkova, J Dolezalova, and L Kovarik

Subjects
drip loss, ionising radiation, meat colour, ph, pig, Veterinary medicine, SF600-1100
Abstract

A nuclear accident (e.g., Fukushima), and, in particular, the transport of animals within a radiation-affected area can lead to a whole-body, or partial external irradiation, followed by oxidative stress, which could result in subsequent meat quality changes. In this experiment, live pigs were exposed to half-body irradiation by an external dose of 1.0 Gy. The caudal half of the animal's body was irradiated. After their slaughter, samples from the muscle tissue of musculus semimembranosus and musculus longissimus lumborum et thoracis at the upper margin of musculus gluteus medius (irradiated body half) and at the 3rd-4th thoracic vertebra (non-irradiated half) were collected to determine the meat quality parameters. A significant difference (P < 0.05) was observed only in the meat colour parameter (a*) in the irradiated group of pigs. If there is no internal contamination, and the half-body exposure to the external radiation dose does not exceed 1 Gy, pigs from an irradiation-affected area may be used for human consumption.

Published
2021
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36. Quantification of clinically applicable stimulation parameters for precision near-organ neuromodulation of human splenic nerves

Author

Gupta, Isha, Cassará, Antonino M., Tarotin, Ilya, Donega, Matteo, Miranda, Jason A., Sokal, David M., Ouchouche, Sebastien, Dopson, Wesley, Matteucci, Paul, Neufeld, Esra, Schiefer, Matthew A., Rowles, Alison, McGill, Paul, Perkins, Justin, Dolezalova, Nikola, Saeb-Parsy, Kourosh, Kuster, Niels, Yazicioglu, Refet Firat, Witherington, Jason, and Chew, Daniel J.

Published
2020
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37. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y., Unión Europea. Comisión Europea. H2020, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III, Instituto Nacional de Bioinformatica (España), Ministry of Health (República Checa), Ministry of Education, Youth and Sports (República Checa), Denomme-Pichon, A. -S., Bruel, A. -L., Duffourd, Y., Safraou, H., Thauvin-Robinet, C., Tran Mau-Them, F., Philippe, C., Vitobello, A., Jean-Marcais, N., Moutton, S., Thevenon, J., Faivre, L., Matalonga, L., de Boer, E., Gilissen, C., Hoischen, A., Kleefstra, T., Pfundt, R., de Vries, B. B. A., Willemsen, M. H., Vissers, L. E. L. M., Jackson, A., Banka, S., Clayton-Smith, J., Benetti, E., Fallerini, C., Renieri, A., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Ellwanger, K., Graessner, H., Haack, T. B., Zurek, B., Havlovicova, M., Macek, M., Ryba, L., Schwarz, M., Votypka, P., Lopez-Martin, E., Posada, M., Mencarelli, M. A., Rooryck, C., Trimouille, A., Verloes, A., Abbott, K. M., Kerstjens, M., Martin, E. L., Maystadt, I., Morleo, M., Nigro, V., Pinelli, M., Riess, O., Agathe, J. -M. D. S., Santen, G. W. E., Thauvin, C., Torella, A., Vissers, L., Zguro, K., Boer, E. D., Cohen, E., Danis, D., Gao, F., Horvath, R., Johari, M., Johanson, L., Li, S., Morsy, H., Nelson, I., Paramonov, I., te Paske, I. B. A. W., Robinson, P., Savarese, M., Steyaert, W., Topf, A., van der Velde, J. K., Vandrovcova, J., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Xu, J., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Lerche, H., Kegele, J., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., 't Hoen, P. A. C., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., Steehouwer, M., Yaldiz, B., Brookes, A. J., Veal, C., Gibson, S., Maddi, V., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Manera, J. D., Hambleton, S., Engelhardt, K., Alexander, E., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Fernandez-Callejo, M., Hernandez, C., Pico, D., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Lagorce, D., Hongnat, O., Chahdil, M., Lebreton, E., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Ben Yaou, R., Metay, C., Eymard, B., Atalaia, A., Stojkovic, T., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Liskova, P., Dolezalova, P., Parkinson, H., Keane, T., Freeberg, M., Thomas, C., Spalding, D., Robert, G., Costa, A., Patch, C., Hanna, M., Houlden, H., Reilly, M., Efthymiou, S., Cali, E., Magrinelli, F., Sisodiya, S. M., Rohrer, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., de Vries, G., De Winter, J., Beijer, D., de Jonghe, P., Van de Vondel, L., De Ridder, W., Weckhuysen, S., Mutarelli, M., Varavallo, A., Banfi, S., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Gualandi, F., Bigoni, S., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Vries, G., Neerincx, P. B., Ruvolo, D., Kerstjens Frederikse, W. S., Zonneveld-Huijssoon, E., Roelofs-Prins, D., van Gijn, M., Kohler, S., Metcalfe, A., Drunat, S., Heron, D., Mignot, C., Keren, B., Lacombe, D., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Cilio, M. -R., Carpancea, E., Depondt, C., Lederer, D., Sznajer, Y., Duerinckx, S., Mary, S., Macaya, A., Cazurro-Gutierrez, A., Perez-Duenas, B., Munell, F., Jarava, C. F., Maso, L. B., Marce-Grau, A., Colobran, R., Hackman, P., Udd, B., Hemelsoet, D., Dermaut, B., Schuermans, N., Poppe, B., Verdin, H., Osorio, A. N., Depienne, C., Roos, A., Cordts, I., Deschauer, M., Striano, P., Zara, F., Riva, A., Iacomino, M., Uva, P., Scala, M., Scudieri, P., Basak, A. N., Claeys, K., Boztug, K., Haimel, M., W. E, G., Ruivenkamp, C. A. L., Natera de Benito, D., Thompson, R., Polavarapu, K., Grimbacher, B., Zaganas, I., Kokosali, E., Lambros, M., Evangeliou, A., Spilioti, M., Kapaki, E., Bourbouli, M., Balicza, P., Molnar, M. J., De la Paz, M. P., Sanchez, E. B., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Schrock, E., Rump, A., Mei, D., Vetro, A., Balestrini, S., Guerrini, R., Chinnery, P. F., Ratnaike, T., Schon, K., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., May, P., Beeson, D., Cossins, J., Furini, S., Afenjar, A., Goldenberg, A., Masurel, A., Phan, A., Dieux-Coeslier, A., Fargeot, A., Guerrot, A. -M., Toutain, A., Molin, A., Sorlin, A., Putoux, A., Jouret, B., Laudier, B., Demeer, B., Doray, B., Bonniaud, B., Isidor, B., Gilbert-Dussardier, B., Leheup, B., Reversade, B., Paul, C., Vincent-Delorme, C., Neiva, C., Poirsier, C., Quelin, C., Chiaverini, C., Coubes, C., Francannet, C., Colson, C., Desplantes, C., Wells, C., Goizet, C., Sanlaville, D., Amram, D., Lehalle, D., Genevieve, D., Gaillard, D., Zivi, E., Sarrazin, E., Steichen, E., Schaefer, E., Lacaze, E., Jacquemin, E., Bongers, E., Kilic, E., Colin, E., Giuliano, F., Prieur, F., Laffargue, F., Morice-Picard, F., Petit, F., Cartault, F., Feillet, F., Baujat, G., Morin, G., Diene, G., Journel, H., Perthus, I., Lespinasse, J., Alessandri, J. -L., Amiel, J., Martinovic, J., Delanne, J., Albuisson, J., Lambert, L., Perrin, L., Ousager, L. B., Van Maldergem, L., Pinson, L., Ruaud, L., Samimi, M., Bournez, M., Bonnet-Dupeyron, M. N., Vincent, M., Jacquemont, M. -L., Cordier-Alex, M. -P., Gerard-Blanluet, M., Willems, M., Spodenkiewicz, M., Doco-Fenzy, M., Rossi, M., Renaud, M., Fradin, M., Mathieu, M., Holder-Espinasse, M. H., Houcinat, N., Hanna, N., Leperrier, N., Chassaing, N., Philip, N., Boute, O., Van Kien, P. K., Parent, P., Bitoun, P., Sarda, P., Vabres, P., Jouk, P. -S., Touraine, R., El Chehadeh, S., Whalen, S., Marlin, S., Passemard, S., Grotto, S., Bellanger, S. A., Blesson, S., Nambot, S., Naudion, S., Lyonnet, S., Odent, S., Attie-Bitach, T., Busa, T., Drouin-Garraud, V., Layet, V., Bizaoui, V., Cusin, V., Capri, Y., Alembik, Y., and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]

Subjects
Exome reanalysis, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Developmental disorder, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology and Life Sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], ClinVar, Rare diseases, All institutes and research themes of the Radboud University Medical Center, Medicine and Health Sciences, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Multidisciplinary, general & others [D99] [Human health sciences], Exome reanalysi, Genetics (clinical)
Abstract

Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods: Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results: We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion: The "ClinVar low-hanging fruit" analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement number 779257. Data were analyzed using the RD-Connect Genome-Phenome Analysis Platform, which received funding from the EU projects RD-Connect, Solve-RD, and European Joint Programme on Rare Diseases (grant numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática), and ELIXIR Implementation Studies. The collaborations in this study were facilitated by the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies, one of the 24 European Reference Networks approved by the European Reference Network Board of Member States, cofunded by the European Commission. This project was supported by the Czech Ministry of Health (number 00064203) and by the Czech Ministry of Education, Youth and Sports (number - LM2018132) to M.M. Sí

Published
2023

39. Health-related quality of life in children with inflammatory brain disease

Author

Liu, Elina, Twilt, Marinka, Tyrrell, Pascal N., Dropol, Anastasia, Sheikh, Shehla, Gorman, Mark, Kim, Susan, Cabral, David A., Forsyth, Rob, Van Mater, Heather, Li, Suzanne, Huber, Adam M., Stringer, Elizabeth, Muscal, Eyal, Wahezi, Dawn, Toth, Mary, Dolezalova, Pavla, Kobrova, Katerina, Ristic, Goran, and Benseler, Susanne M.

Published
2018
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40. A Global Survey on Changes in the Supply, Price, and Use of Illicit Drugs and Alcohol, and Related Complications During the 2020 COVID-19 Pandemic

Author

Farhoudian, A, Radfar, S, Ardabili, H, Rafei, P, Ebrahimi, M, Zonoozi, A, De Jong, C, Vahidi, M, Yunesian, M, Kouimtsidis, C, Arunogiri, S, Hansen, H, Brady, K, Potenza, M, Baldacchino, A, Ekhtiari, H, Abagiu, A, Abouna, F, Ahmed, M, Al-Ansari, B, Al-Khair, F, Almaqbali, M, Ambekar, A, Arya, S, Asebikan, V, Ayasreh, M, Basu, D, Benmebarek, Z, Bhad, R, Blaise, M, Bonnet, N, Brasch, J, Broers, B, Busse, A, Butner, J, Camilleri, M, Campello, G, Carra, G, Celic, I, Chalabianloo, F, Chaturvedi, A, Cherpitel, J, Clark, K, Cyders, M, de Bernardis, E, Deilamizade, A, Derry, J, Dhagudu, N, Dolezalova, P, Dom, G, Dunlop, A, Elhabiby, M, Elkholy, H, Essien, N, Farah, G, Ferri, M, Floros, G, Friedman, C, Fuderanan, C, Gerra, G, Ghosh, A, Gogia, M, Grammatikopoulos, I, Grandinetti, P, Guirguis, A, Gutnisky, D, Haber, P, Hassani-Abharian, P, Hooshyari, Z, Ibrahim, I, Ieong, H, Indradewi, R, Iskandar, S, Isra, T, Jain, S, James, S, Javadi, S, Joe, K, Jokubonis, D, Jovanova, A, Kamal, R, Kantchelov, A, Kathiresan, P, Katzman, G, Kawale, P, Kern, A, Kessler, F, Kim, S, Kimball, A, Kljucevic, Z, Kurniasanti, K, Lev, R, Lee, H, Lengvenyte, A, Lev-Ran, S, Mabelya, G, Mahi, M, Maphisa, J, Maremmani, I, Masferrer, L, Massah, O, Mccambridge, O, Mcgovern, G, Min, A, Moghanibashi-Mansourieh, A, Mora-Rios, J, Mudalige, I, Mukherjee, D, Munira, P, Myers, B, Menon, T, Narasimha, V, Ndionuka, N, Nejatisafa, A, Niaz, K, Nizami, A, Nuijens, J, Orsolini, L, Oum, V, Oyemade, A, Palavra, I, Pant, S, Paredes, J, Peyron, E, Quiros, R, Qurishi, R, Rafiq, N, Raghavendra Rao, R, Ratta-Apha, W, Raymond, K, Reimer, J, Renaldo, E, Rezapour, T, Robertson, J, Roncero, C, Roub, F, Rubenstein, E, Rupp, C, Saenz, E, Salehi, M, Samartzis, L, Sarubbo, L, Segrec, N, Shah, B, Shen, H, Shirasaka, T, Shoptaw, S, Sintango, F, Sosa, V, Subata, E, Sztycberg, N, Taghizadeh, F, Wee Teck, J, Tjagvad, C, Torrens, M, Twala, J, Vadivel, R, Volpicelli, J, Weijs, J, Wintoniw, S, Wittayanookulluk, A, Wojnar, M, Yasir, S, Yitayih, Y, Zhao, M, Farhoudian A., Radfar S. R., Ardabili H. M., Rafei P., Ebrahimi M., Zonoozi A. K., De Jong C. A. J., Vahidi M., Yunesian M., Kouimtsidis C., Arunogiri S., Hansen H., Brady K. T., Potenza M. N., Baldacchino A. M., Ekhtiari H., Abagiu A. O., Abouna F. D. N., Ahmed M. H., Al-Ansari B., Al-Khair F. M. A., Almaqbali M. H., Ambekar A., Arya S., Asebikan V. O., Ayasreh M. A., Basu D., Benmebarek Z., Bhad R., Blaise M., Bonnet N., Brasch J., Broers B., Busse A., Butner J. L., Camilleri M., Campello G., Carra G., Celic I., Chalabianloo F., Chaturvedi A., Cherpitel J. J. E. N., Clark K. J., Cyders M. A., de Bernardis E., Deilamizade A., Derry J. E., Dhagudu N. K., Dolezalova P., Dom G., Dunlop A. J., Elhabiby M. M., Elkholy H., Essien N. F., Farah G. I., Ferri M., Floros G. D., Friedman C., Fuderanan C. H., Gerra G., Ghosh A., Gogia M., Grammatikopoulos I. A., Grandinetti P., Guirguis A., Gutnisky D., Haber P. S., Hassani-Abharian P., Hooshyari Z., Ibrahim I. I. M., Ieong H. F. -H., Indradewi R. N., Iskandar S., Isra T. N., Jain S., James S., Javadi S. M. H., Joe K. H., Jokubonis D., Jovanova A. T., Kamal R. M., Kantchelov A. I., Kathiresan P., Katzman G., Kawale P., Kern A. M., Kessler F. H. P., Kim S. -G. S., Kimball A. M., Kljucevic Z., Kurniasanti K. S., Lev R., Lee H. K., Lengvenyte A., Lev-Ran S., Mabelya G. S., Mahi M. A. E., Maphisa J. M., Maremmani I., Masferrer L., Massah O., McCambridge O., McGovern G. G., Min A. K., Moghanibashi-Mansourieh A., Mora-Rios J., Mudalige I. U. K., Mukherjee D., Munira P. M., Myers B., Menon T. N. J., Narasimha V. L., Ndionuka N., Nejatisafa A. -A., Niaz K., Nizami A. T., Nuijens J. H., Orsolini L., Oum V., Oyemade A. A., Palavra I. R., Pant S. B., Paredes J., Peyron E., Quiros R. A., Qurishi R., Rafiq N. U. Z., Raghavendra Rao R., Ratta-Apha W., Raymond K. -L., Reimer J., Renaldo E., Rezapour T., Robertson J. R., Roncero C., Roub F., Rubenstein E. J., Rupp C. I., Saenz E., Salehi M., Samartzis L., Sarubbo L. B., Segrec N., Shah B., Shen H., Shirasaka T., Shoptaw S., Sintango F. M., Sosa V. A., Subata E., Sztycberg N., Taghizadeh F., Wee Teck J. B. T., Tjagvad C., Torrens M., Twala J. M., Vadivel R., Volpicelli J. R., Weijs J., Wintoniw S. M., Wittayanookulluk A., Wojnar M., Yasir S., Yitayih Y., Zhao M., Farhoudian, A, Radfar, S, Ardabili, H, Rafei, P, Ebrahimi, M, Zonoozi, A, De Jong, C, Vahidi, M, Yunesian, M, Kouimtsidis, C, Arunogiri, S, Hansen, H, Brady, K, Potenza, M, Baldacchino, A, Ekhtiari, H, Abagiu, A, Abouna, F, Ahmed, M, Al-Ansari, B, Al-Khair, F, Almaqbali, M, Ambekar, A, Arya, S, Asebikan, V, Ayasreh, M, Basu, D, Benmebarek, Z, Bhad, R, Blaise, M, Bonnet, N, Brasch, J, Broers, B, Busse, A, Butner, J, Camilleri, M, Campello, G, Carra, G, Celic, I, Chalabianloo, F, Chaturvedi, A, Cherpitel, J, Clark, K, Cyders, M, de Bernardis, E, Deilamizade, A, Derry, J, Dhagudu, N, Dolezalova, P, Dom, G, Dunlop, A, Elhabiby, M, Elkholy, H, Essien, N, Farah, G, Ferri, M, Floros, G, Friedman, C, Fuderanan, C, Gerra, G, Ghosh, A, Gogia, M, Grammatikopoulos, I, Grandinetti, P, Guirguis, A, Gutnisky, D, Haber, P, Hassani-Abharian, P, Hooshyari, Z, Ibrahim, I, Ieong, H, Indradewi, R, Iskandar, S, Isra, T, Jain, S, James, S, Javadi, S, Joe, K, Jokubonis, D, Jovanova, A, Kamal, R, Kantchelov, A, Kathiresan, P, Katzman, G, Kawale, P, Kern, A, Kessler, F, Kim, S, Kimball, A, Kljucevic, Z, Kurniasanti, K, Lev, R, Lee, H, Lengvenyte, A, Lev-Ran, S, Mabelya, G, Mahi, M, Maphisa, J, Maremmani, I, Masferrer, L, Massah, O, Mccambridge, O, Mcgovern, G, Min, A, Moghanibashi-Mansourieh, A, Mora-Rios, J, Mudalige, I, Mukherjee, D, Munira, P, Myers, B, Menon, T, Narasimha, V, Ndionuka, N, Nejatisafa, A, Niaz, K, Nizami, A, Nuijens, J, Orsolini, L, Oum, V, Oyemade, A, Palavra, I, Pant, S, Paredes, J, Peyron, E, Quiros, R, Qurishi, R, Rafiq, N, Raghavendra Rao, R, Ratta-Apha, W, Raymond, K, Reimer, J, Renaldo, E, Rezapour, T, Robertson, J, Roncero, C, Roub, F, Rubenstein, E, Rupp, C, Saenz, E, Salehi, M, Samartzis, L, Sarubbo, L, Segrec, N, Shah, B, Shen, H, Shirasaka, T, Shoptaw, S, Sintango, F, Sosa, V, Subata, E, Sztycberg, N, Taghizadeh, F, Wee Teck, J, Tjagvad, C, Torrens, M, Twala, J, Vadivel, R, Volpicelli, J, Weijs, J, Wintoniw, S, Wittayanookulluk, A, Wojnar, M, Yasir, S, Yitayih, Y, Zhao, M, Farhoudian A., Radfar S. R., Ardabili H. M., Rafei P., Ebrahimi M., Zonoozi A. K., De Jong C. A. J., Vahidi M., Yunesian M., Kouimtsidis C., Arunogiri S., Hansen H., Brady K. T., Potenza M. N., Baldacchino A. M., Ekhtiari H., Abagiu A. O., Abouna F. D. N., Ahmed M. H., Al-Ansari B., Al-Khair F. M. A., Almaqbali M. H., Ambekar A., Arya S., Asebikan V. O., Ayasreh M. A., Basu D., Benmebarek Z., Bhad R., Blaise M., Bonnet N., Brasch J., Broers B., Busse A., Butner J. L., Camilleri M., Campello G., Carra G., Celic I., Chalabianloo F., Chaturvedi A., Cherpitel J. J. E. N., Clark K. J., Cyders M. A., de Bernardis E., Deilamizade A., Derry J. E., Dhagudu N. K., Dolezalova P., Dom G., Dunlop A. J., Elhabiby M. M., Elkholy H., Essien N. F., Farah G. I., Ferri M., Floros G. D., Friedman C., Fuderanan C. H., Gerra G., Ghosh A., Gogia M., Grammatikopoulos I. A., Grandinetti P., Guirguis A., Gutnisky D., Haber P. S., Hassani-Abharian P., Hooshyari Z., Ibrahim I. I. M., Ieong H. F. -H., Indradewi R. N., Iskandar S., Isra T. N., Jain S., James S., Javadi S. M. H., Joe K. H., Jokubonis D., Jovanova A. T., Kamal R. M., Kantchelov A. I., Kathiresan P., Katzman G., Kawale P., Kern A. M., Kessler F. H. P., Kim S. -G. S., Kimball A. M., Kljucevic Z., Kurniasanti K. S., Lev R., Lee H. K., Lengvenyte A., Lev-Ran S., Mabelya G. S., Mahi M. A. E., Maphisa J. M., Maremmani I., Masferrer L., Massah O., McCambridge O., McGovern G. G., Min A. K., Moghanibashi-Mansourieh A., Mora-Rios J., Mudalige I. U. K., Mukherjee D., Munira P. M., Myers B., Menon T. N. J., Narasimha V. L., Ndionuka N., Nejatisafa A. -A., Niaz K., Nizami A. T., Nuijens J. H., Orsolini L., Oum V., Oyemade A. A., Palavra I. R., Pant S. B., Paredes J., Peyron E., Quiros R. A., Qurishi R., Rafiq N. U. Z., Raghavendra Rao R., Ratta-Apha W., Raymond K. -L., Reimer J., Renaldo E., Rezapour T., Robertson J. R., Roncero C., Roub F., Rubenstein E. J., Rupp C. I., Saenz E., Salehi M., Samartzis L., Sarubbo L. B., Segrec N., Shah B., Shen H., Shirasaka T., Shoptaw S., Sintango F. M., Sosa V. A., Subata E., Sztycberg N., Taghizadeh F., Wee Teck J. B. T., Tjagvad C., Torrens M., Twala J. M., Vadivel R., Volpicelli J. R., Weijs J., Wintoniw S. M., Wittayanookulluk A., Wojnar M., Yasir S., Yitayih Y., and Zhao M.

Abstract

Background and Aims: COVID-19 has infected more than 77 million people worldwide and impacted the lives of many more, with a particularly devastating impact on vulnerable populations, including people with substance use disorders (SUDs). Quarantines, travel bans, regulatory changes, social distancing, and “lockdown” measures have affected drug and alcohol supply chains and subsequently their availability, price, and use patterns, with possible downstream effects on presentations of SUDs and demand for treatment. Given the lack of multicentric epidemiologic studies, we conducted a rapid global survey within the International Society of Addiction Medicine (ISAM) network in order to understand the status of substance-use patterns during the current pandemic. Design: Cross-sectional survey. Setting: Worldwide. Participants: Starting on April 4, 2020 during a 5-week period, the survey received 185 responses from 77 countries. Measurements: To assess addiction medicine professionals' perceived changes in drug and alcohol supply, price, use pattern, and related complications during the COVID-19 pandemic. Findings: Participants reported (among who answered “decreased” or “increased”) a decrease in drug supply (69.0%) and at the same time an increase in price (95.3%) globally. With respect to changes in use patterns, an increase in alcohol (71.7%), cannabis (63.0%), prescription opioids (70.9%), and sedative/hypnotics (84.6%) use was reported, while the use of amphetamines (59.7%), cocaine (67.5%), and opiates (58.2%) was reported to decrease overall. Conclusions: The global report on changes in the availability, use patterns, and complications of alcohol and drugs during the COVID-19 pandemic should be considered in making new policies and in developing mitigating measures and guidelines during the current pandemic (and probable future ones) in order to minimize risks to people with SUD.

Published
2021

41. Reorganization of Substance Use Treatment and Harm Reduction Services During the COVID-19 Pandemic: A Global Survey

Author

Radfar, S, De Jong, C, Farhoudian, A, Ebrahimi, M, Rafei, P, Vahidi, M, Yunesian, M, Kouimtsidis, C, Arunogiri, S, Massah, O, Deylamizadeh, A, Brady, K, Busse, A, Potenza, M, Ekhtiari, H, Baldacchino, A, Abagiu, A, Abouna, F, Ahmed, M, Al-ansari, B, Mahmmoud Abu Al-khair, F, Almaqbali, M, Ambekar, A, Ardabili, H, Arya, S, Lasebikan, V, Ayasreh, M, Basu, D, Benmebarek, Z, Bhad, R, Blaise, M, Bonnet, N, Brasch, J, Broers, B, Butner, J, Camilleri, M, Campello, G, Carra, G, Celic, I, Chalabianloo, F, Chaturvedi, A, de Jesus Eduardo Noyola Cherpitel, J, Clark, K, Cyders, M, de Bernardis, E, Derry, J, Dhagudu, N, Dolezalova, P, Dom, G, Dunlop, A, Elhabiby, M, Elkholy, H, Essien, N, Farah, G, Ferri, M, Floros, G, Friedman, C, Fuderanan, C, Gerra, G, Ghosh, A, Gogia, M, Grammatikopoulos, I, Grandinetti, P, Guirguis, A, Gutnisky, D, Haber, P, Hassani-Abharian, P, Hooshyari, Z, Ibrahim, I, Ieong, H, Indradewi, R, Iskandar, S, Jain, S, James, S, Javadi, S, Joe, K, Jokubonis, D, Jovanova, A, Kamal, R, Kantchelov, A, Kathiresan, P, Katzman, G, Kawale, P, Kern, A, Kessler, F, Kim, S, Kimball, A, Kljucevic, Z, Siste, K, Lev, R, Lee, H, Lengvenyte, A, Lev-ran, S, Mabelya, G, Mahi, M, Maphisa, J, Maremmani, I, Masferrer, L, Mccambridge, O, Mcgovern, G, Min, A, Moghanibashi-Mansourieh, A, Mora-Rios, J, Mudalige, I, Mukherjee, D, Munira, P, Myers, B, Menon T N, J, Narasimha, V, Ndionuka, N, Nejatisafa, A, Niaz, K, Nizami, A, Nuijens, J, Orsolini, L, Oum, V, Oyemade, A, Palavra, I, Pant, S, Paredes, J, Peyron, E, Alberto Quiros, R, Qurishi, R, Rafiq, N, Rao, R, Ratta-apha, W, Raymond, K, Reimer, J, Renaldo, E, Rezapour, T, Robertson, J, Roncero, C, Roub, F, Rubenstein, E, Rupp, C, Saenz, E, Salehi, M, Samartzis, L, Sarubbo, L, Segrec, N, Shah, B, Shen, H, Shirasaka, T, Shoptaw, S, Sintango, F, Sosa, V, Subata, E, Sztycberg, N, Taghizadeh, F, Teck, J, Tjagvad, C, Torrens, M, Twala, J, Vadivel, R, Volpicelli, J, Weijs, J, Wintoniw, S, Wittayanookulluk, A, Wojnar, M, Yasir, S, Yitayih, Y, Zhao, M, Zonoozi, A, Radfar S. R., De Jong C. A. J., Farhoudian A., Ebrahimi M., Rafei P., Vahidi M., Yunesian M., Kouimtsidis C., Arunogiri S., Massah O., Deylamizadeh A., Brady K. T., Busse A., Potenza M. N., Ekhtiari H., Baldacchino A. M., Abagiu A. O., Abouna F. D. N., Ahmed M. H., Al-ansari B., Mahmmoud Abu Al-khair F., Almaqbali M. H., Ambekar A., Ardabili H. M., Arya S., Lasebikan V. O., Ayasreh M. A., Basu D., Benmebarek Z., Bhad R., Blaise M., Bonnet N., Brasch J., Broers B., Butner J. L., Camilleri M., Campello G., Carra G., Celic I., Chalabianloo F., Chaturvedi A., de Jesus Eduardo Noyola Cherpitel J., Clark K. J., Cyders M. A., de Bernardis E., Derry J. E., Dhagudu N. K., Dolezalova P., Dom G., Dunlop A. J., Elhabiby M. M., Elkholy H., Essien N. F., Farah G. I., Ferri M., Floros G. D., Friedman C., Fuderanan C. H., Gerra G., Ghosh A., Gogia M., Grammatikopoulos I. A., Grandinetti P., Guirguis A., Gutnisky D., Haber P. S., Hassani-Abharian P., Hooshyari Z., Ibrahim I. I. M., Ieong H., Indradewi R. N., Iskandar S., Jain S., James S., Javadi S. M. H., Joe K. H., Jokubonis D., Jovanova A. T., Kamal R. M., Kantchelov A. I., Kathiresan P., Katzman G., Kawale P., Kern A. M., Kessler F. H. P., Kim S., Kimball A. M., Kljucevic Z., Siste K., Lev R., Lee H. K., Lengvenyte A., Lev-ran S., Mabelya G. S., Mahi M. A. E., Maphisa J., Maremmani I., Masferrer L., McCambridge O., McGovern G. G., Min A. K., Moghanibashi-Mansourieh A., Mora-Rios J., Mudalige I. U. K., Mukherjee D., Munira P. M., Myers B., Menon T N J., Narasimha V. L., Ndionuka N., Nejatisafa A., Niaz K., Nizami A. T., Nuijens J. H., Orsolini L., Oum V., Oyemade A. A., Palavra I. R., Pant S. B., Paredes J., Peyron E., Alberto Quiros R., Qurishi R., Rafiq N. U. Z., Rao R. R., Ratta-apha W., Raymond K., Reimer J., Renaldo E., Rezapour T., Robertson J. R., Roncero C., Roub F., Rubenstein E. J., Rupp C. I., Saenz E., Salehi M., Samartzis L., Sarubbo L. B., Segrec N., Shah B., Shen H., Shirasaka T., Shoptaw S., Sintango F. M., Sosa V. A., Subata E., Sztycberg N., Taghizadeh F., Teck J., Tjagvad C., Torrens M., Twala J. M., Vadivel R., Volpicelli J. R., Weijs J., Wintoniw S. M., Wittayanookulluk A., Wojnar M., Yasir S., Yitayih Y., Zhao M., Zonoozi A. K., Radfar, S, De Jong, C, Farhoudian, A, Ebrahimi, M, Rafei, P, Vahidi, M, Yunesian, M, Kouimtsidis, C, Arunogiri, S, Massah, O, Deylamizadeh, A, Brady, K, Busse, A, Potenza, M, Ekhtiari, H, Baldacchino, A, Abagiu, A, Abouna, F, Ahmed, M, Al-ansari, B, Mahmmoud Abu Al-khair, F, Almaqbali, M, Ambekar, A, Ardabili, H, Arya, S, Lasebikan, V, Ayasreh, M, Basu, D, Benmebarek, Z, Bhad, R, Blaise, M, Bonnet, N, Brasch, J, Broers, B, Butner, J, Camilleri, M, Campello, G, Carra, G, Celic, I, Chalabianloo, F, Chaturvedi, A, de Jesus Eduardo Noyola Cherpitel, J, Clark, K, Cyders, M, de Bernardis, E, Derry, J, Dhagudu, N, Dolezalova, P, Dom, G, Dunlop, A, Elhabiby, M, Elkholy, H, Essien, N, Farah, G, Ferri, M, Floros, G, Friedman, C, Fuderanan, C, Gerra, G, Ghosh, A, Gogia, M, Grammatikopoulos, I, Grandinetti, P, Guirguis, A, Gutnisky, D, Haber, P, Hassani-Abharian, P, Hooshyari, Z, Ibrahim, I, Ieong, H, Indradewi, R, Iskandar, S, Jain, S, James, S, Javadi, S, Joe, K, Jokubonis, D, Jovanova, A, Kamal, R, Kantchelov, A, Kathiresan, P, Katzman, G, Kawale, P, Kern, A, Kessler, F, Kim, S, Kimball, A, Kljucevic, Z, Siste, K, Lev, R, Lee, H, Lengvenyte, A, Lev-ran, S, Mabelya, G, Mahi, M, Maphisa, J, Maremmani, I, Masferrer, L, Mccambridge, O, Mcgovern, G, Min, A, Moghanibashi-Mansourieh, A, Mora-Rios, J, Mudalige, I, Mukherjee, D, Munira, P, Myers, B, Menon T N, J, Narasimha, V, Ndionuka, N, Nejatisafa, A, Niaz, K, Nizami, A, Nuijens, J, Orsolini, L, Oum, V, Oyemade, A, Palavra, I, Pant, S, Paredes, J, Peyron, E, Alberto Quiros, R, Qurishi, R, Rafiq, N, Rao, R, Ratta-apha, W, Raymond, K, Reimer, J, Renaldo, E, Rezapour, T, Robertson, J, Roncero, C, Roub, F, Rubenstein, E, Rupp, C, Saenz, E, Salehi, M, Samartzis, L, Sarubbo, L, Segrec, N, Shah, B, Shen, H, Shirasaka, T, Shoptaw, S, Sintango, F, Sosa, V, Subata, E, Sztycberg, N, Taghizadeh, F, Teck, J, Tjagvad, C, Torrens, M, Twala, J, Vadivel, R, Volpicelli, J, Weijs, J, Wintoniw, S, Wittayanookulluk, A, Wojnar, M, Yasir, S, Yitayih, Y, Zhao, M, Zonoozi, A, Radfar S. R., De Jong C. A. J., Farhoudian A., Ebrahimi M., Rafei P., Vahidi M., Yunesian M., Kouimtsidis C., Arunogiri S., Massah O., Deylamizadeh A., Brady K. T., Busse A., Potenza M. N., Ekhtiari H., Baldacchino A. M., Abagiu A. O., Abouna F. D. N., Ahmed M. H., Al-ansari B., Mahmmoud Abu Al-khair F., Almaqbali M. H., Ambekar A., Ardabili H. M., Arya S., Lasebikan V. O., Ayasreh M. A., Basu D., Benmebarek Z., Bhad R., Blaise M., Bonnet N., Brasch J., Broers B., Butner J. L., Camilleri M., Campello G., Carra G., Celic I., Chalabianloo F., Chaturvedi A., de Jesus Eduardo Noyola Cherpitel J., Clark K. J., Cyders M. A., de Bernardis E., Derry J. E., Dhagudu N. K., Dolezalova P., Dom G., Dunlop A. J., Elhabiby M. M., Elkholy H., Essien N. F., Farah G. I., Ferri M., Floros G. D., Friedman C., Fuderanan C. H., Gerra G., Ghosh A., Gogia M., Grammatikopoulos I. A., Grandinetti P., Guirguis A., Gutnisky D., Haber P. S., Hassani-Abharian P., Hooshyari Z., Ibrahim I. I. M., Ieong H., Indradewi R. N., Iskandar S., Jain S., James S., Javadi S. M. H., Joe K. H., Jokubonis D., Jovanova A. T., Kamal R. M., Kantchelov A. I., Kathiresan P., Katzman G., Kawale P., Kern A. M., Kessler F. H. P., Kim S., Kimball A. M., Kljucevic Z., Siste K., Lev R., Lee H. K., Lengvenyte A., Lev-ran S., Mabelya G. S., Mahi M. A. E., Maphisa J., Maremmani I., Masferrer L., McCambridge O., McGovern G. G., Min A. K., Moghanibashi-Mansourieh A., Mora-Rios J., Mudalige I. U. K., Mukherjee D., Munira P. M., Myers B., Menon T N J., Narasimha V. L., Ndionuka N., Nejatisafa A., Niaz K., Nizami A. T., Nuijens J. H., Orsolini L., Oum V., Oyemade A. A., Palavra I. R., Pant S. B., Paredes J., Peyron E., Alberto Quiros R., Qurishi R., Rafiq N. U. Z., Rao R. R., Ratta-apha W., Raymond K., Reimer J., Renaldo E., Rezapour T., Robertson J. R., Roncero C., Roub F., Rubenstein E. J., Rupp C. I., Saenz E., Salehi M., Samartzis L., Sarubbo L. B., Segrec N., Shah B., Shen H., Shirasaka T., Shoptaw S., Sintango F. M., Sosa V. A., Subata E., Sztycberg N., Taghizadeh F., Teck J., Tjagvad C., Torrens M., Twala J. M., Vadivel R., Volpicelli J. R., Weijs J., Wintoniw S. M., Wittayanookulluk A., Wojnar M., Yasir S., Yitayih Y., Zhao M., and Zonoozi A. K.

Abstract

Background: The coronavirus disease 2019 (COVID-19) pandemic has impacted people with substance use disorders (SUDs) worldwide, and healthcare systems have reorganized their services in response to the pandemic. Methods: One week after the announcement of the COVID-19 as a pandemic, in a global survey, 177 addiction medicine professionals described COVID-19-related health responses in their own 77 countries in terms of SUD treatment and harm reduction services. The health responses were categorized around (1) managerial measures and systems, (2) logistics, (3) service providers, and (4) vulnerable groups. Results: Respondents from over 88% of countries reported that core medical and psychiatric care for SUDs had continued; however, only 56% of countries reported having had any business continuity plan, and 37.5% of countries reported shortages of methadone or buprenorphine supplies. Participants of 41% of countries reported partial discontinuation of harm-reduction services such as needle and syringe programs and condom distribution. Fifty-seven percent of overdose prevention interventions and 81% of outreach services were also negatively impacted. Conclusions: Participants reported that SUD treatment and harm-reduction services had been significantly impacted globally early during the COVID-19 pandemic. Based on our findings, we highlight several issues and complications resulting from the pandemic concerning people with SUDs that should be tackled more efficiently during the future waves or similar pandemics. The issues and potential strategies comprise the following: (1) helping policymakers to generate business continuity plans, (2) maintaining the use of evidence-based interventions for people with SUDs, (3) being prepared for adequate medication supplies, (4) integrating harm reduction programs with other treatment modalities, and (5) having specific considerations for vulnerable groups such as immigrants and refugees.

Published
2021

43. Mycophenolate Mofetil Versus Cyclophosphamide for Remission Induction in Childhood Polyarteritis Nodosa:An Open-Label, Randomized, Bayesian Noninferiority Trial

Author

Brogan, P.A., Arch, B., Hickey, H., Anton, J., Iglesias, E., Baildam, E., Mahmood, K., Cleary, G., Moraitis, E., Papadopoulou, C., Beresford, M.W., Riley, P., Demir, S., Ozen, S., Culeddu, G., Hughes, D.A., Dolezalova, P., Hampson, L., Whitehead, J., Jayne, D., Ruperto, N., Tudur-Smith, C., Eleftheriou, D., Brogan, P.A., Arch, B., Hickey, H., Anton, J., Iglesias, E., Baildam, E., Mahmood, K., Cleary, G., Moraitis, E., Papadopoulou, C., Beresford, M.W., Riley, P., Demir, S., Ozen, S., Culeddu, G., Hughes, D.A., Dolezalova, P., Hampson, L., Whitehead, J., Jayne, D., Ruperto, N., Tudur-Smith, C., and Eleftheriou, D.

Abstract

Objective: Cyclophosphamide (CYC) is used in clinical practice off-label for the induction of remission in childhood polyarteritis nodosa (PAN). Mycophenolate mofetil (MMF) might offer a less toxic alternative. This study was undertaken to explore the relative effectiveness of CYC and MMF treatment in a randomized controlled trial (RCT). Methods: This was an international, open-label, Bayesian RCT to investigate the relative effectiveness of CYC and MMF for remission induction in childhood PAN. Eleven patients with newly diagnosed childhood PAN were randomized (1:1) to receive MMF or intravenous CYC; all patients received the same glucocorticoid regimen. The primary end point was remission within 6 months while compliant with glucocorticoid taper. Bayesian distributions for remission rates were established a priori for MMF and CYC by experienced clinicians and updated to posterior distributions on trial completion. Results: Baseline disease activity and features were similar between the 2 treatment groups. The primary end point was met in 4 of 6 patients (67%) in the MMF group and 4 of 5 patients (80%) in the CYC group. Time to remission was shorter in the MMF group compared to the CYC group (median 7.1 weeks versus 17.6 weeks). No relapses occurred in either group within 18 months. Two serious infections were found to be likely linked to MMF treatment. Physical and psychosocial quality-of-life scores were superior in the MMF group compared to the CYC group at 6 months and 18 months. Combining the prior expert opinion with results from the present study provided posterior estimates of remission of 71% for MMF (90% credibility interval [90% CrI] 51, 83) and 75% for CYC (90% CrI 57, 86). Conclusion: The present results, taken together with prior opinion, indicate that rates of remission induction in childhood PAN are similar with MMF treatment and CYC treatment, and MMF treatment might be associated with better health-related quality of life than CYC treatment.

Published
2021

45. Opportunistic infections in immunosuppressed patients with juvenile idiopathic arthritis: analysis by the Pharmachild Safety Adjudication Committee

Author

Giancane, G, Swart, Jf, Castagnola, E, Groll, Ah, Horneff, G, Huppertz, Hi, Lovell, Dj, Wolfs, T, Herlin, T, Dolezalova, P, Sanner, H, Susic, G, Sztajnbok, F, Maritsi, D, Constantin, T, Vargova, V, Sawhney, S, Rygg, M, K Oliveira, S, Cattalini, M, Bovis, F, Bagnasco, F, Pistorio, A, Martini, A, Wulffraat, N, Ruperto, N, Cuttica, R, Garay, Sm, Brunner, J, Emminger, W, Appenzeller, S, Len, C, Saad Magalhaes, C, Telcharova-Mihaylovska, A, Harjacek, M, Jelusic, M, Estmann, A, Nielsen, S, Herrera Mora, C, Gervais, E, Koné-Paut, I, Quartier, P, Foeldvari, I, Lutz, T, Minden, K, Tzaribachev, N, Trachana, M, Tsitsami, E, Vougiouka, O, Orban, I, Harel, L, Hashkes, P, Uziel, Y, Cimaz, R, Civino, A, Consolini, R, D'Angelo, G, De Benedetti, F, Filocamo, G, Fueri, E, Gallizzi, R, Maggio, Mc, Magnolia, Mg, Miniaci, A, Montin, D, Olivieri, An, Pastore, S, Rigante, Donato, Zulian, F, Rumba-Rozenfelde, I, Stanevicha, V, Panaviene, V, Rodriguez Lozano, Al, Rubio-Perez, N, Vega Cornejo, G, Hoppenreijs, E, Kamphuis, S, Flato, B, Nordal, Eb, Abdwani, R, Miraval, T, Paz Gastanaga, Me, Smolewska, E, Ailioaie, C, Cochino, Av, Laday, M, Lazar, C, Alexeeva, E, Chasnyk, V, Keltsev, V, Suwairi, Wm, Vijatov-Djuric, G, Vojinovic, J, Arkachaisri, T, Koskova, E, Avcin, T, Ally, M, Van Rensburg, Cj, Louw, I, Lopez, Ja, Boteanu, Al, Calvo Penades, I, De Inocencio, J, Mesa-Del-Castillo, P, Moreno, E, Remesal, A, Hofer, M, Gok, F, Ozen, S, Ramanan, A, Pallotti, C, Villa, L &amp, Paediatric Rheumatology International Trials Organisation, (PRINTO), Rigante D (ORCID:0000-0001-7032-7779), Giancane, G, Swart, Jf, Castagnola, E, Groll, Ah, Horneff, G, Huppertz, Hi, Lovell, Dj, Wolfs, T, Herlin, T, Dolezalova, P, Sanner, H, Susic, G, Sztajnbok, F, Maritsi, D, Constantin, T, Vargova, V, Sawhney, S, Rygg, M, K Oliveira, S, Cattalini, M, Bovis, F, Bagnasco, F, Pistorio, A, Martini, A, Wulffraat, N, Ruperto, N, Cuttica, R, Garay, Sm, Brunner, J, Emminger, W, Appenzeller, S, Len, C, Saad Magalhaes, C, Telcharova-Mihaylovska, A, Harjacek, M, Jelusic, M, Estmann, A, Nielsen, S, Herrera Mora, C, Gervais, E, Koné-Paut, I, Quartier, P, Foeldvari, I, Lutz, T, Minden, K, Tzaribachev, N, Trachana, M, Tsitsami, E, Vougiouka, O, Orban, I, Harel, L, Hashkes, P, Uziel, Y, Cimaz, R, Civino, A, Consolini, R, D'Angelo, G, De Benedetti, F, Filocamo, G, Fueri, E, Gallizzi, R, Maggio, Mc, Magnolia, Mg, Miniaci, A, Montin, D, Olivieri, An, Pastore, S, Rigante, Donato, Zulian, F, Rumba-Rozenfelde, I, Stanevicha, V, Panaviene, V, Rodriguez Lozano, Al, Rubio-Perez, N, Vega Cornejo, G, Hoppenreijs, E, Kamphuis, S, Flato, B, Nordal, Eb, Abdwani, R, Miraval, T, Paz Gastanaga, Me, Smolewska, E, Ailioaie, C, Cochino, Av, Laday, M, Lazar, C, Alexeeva, E, Chasnyk, V, Keltsev, V, Suwairi, Wm, Vijatov-Djuric, G, Vojinovic, J, Arkachaisri, T, Koskova, E, Avcin, T, Ally, M, Van Rensburg, Cj, Louw, I, Lopez, Ja, Boteanu, Al, Calvo Penades, I, De Inocencio, J, Mesa-Del-Castillo, P, Moreno, E, Remesal, A, Hofer, M, Gok, F, Ozen, S, Ramanan, A, Pallotti, C, Villa, L &amp, Paediatric Rheumatology International Trials Organisation, (PRINTO), and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

BACKGROUND: To derive a list of opportunistic infections (OI) through the analysis of the juvenile idiopathic arthritis (JIA) patients in the Pharmachild registry by an independent Safety Adjudication Committee (SAC). METHODS: The SAC (3 pediatric rheumatologists and 2 pediatric infectious disease specialists) elaborated and approved by consensus a provisional list of OI for use in JIA. Through a 5 step-procedure, all the severe and serious infections, classified as per MedDRA dictionary and retrieved in the Pharmachild registry, were evaluated by the SAC by answering six questions and adjudicated with the agreement of 3/5 specialists. A final evidence-based list of OI resulted by matching the adjudicated infections with the provisional list of OI. RESULTS: A total of 772 infectious events in 572 eligible patients, of which 335 serious/severe/very severe non-OI and 437 OI (any intensity/severity), according to the provisional list, were retrieved. Six hundred eighty-two of 772 (88.3%) were adjudicated as infections, of them 603/682 (88.4%) as common and 119/682 (17.4%) as OI by the SAC. Matching these 119 opportunistic events with the provisional list, 106 were confirmed by the SAC as OI, and among them infections by herpes viruses were the most frequent (68%), followed by tuberculosis (27.4%). The remaining events were divided in the groups of non-OI and possible/patient and/or pathogen-related OI. CONCLUSIONS: We found a significant number of OI in JIA patients on immunosuppressive therapy. The proposed list of OI, created by consensus and validated in the Pharmachild cohort, could facilitate comparison among future pharmacovigilance studies.

Published
2020

46. A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.

Author

Zemankova, Petra, Cerna, Marta, Horackova, Klara, Ernst, Corinna, Soukupova, Jana, Borecka, Marianna, Blümcke, Britta, Cerna, Leona, Cerna, Monika, Curtisova, Vaclava, Dolezalova, Tatana, Duskova, Petra, Dvorakova, Lenka, Foretova, Lenka, Havranek, Ondrej, Hauke, Jan, Hahnen, Eric, Hodulova, Miloslava, Hovhannisyan, Milena, and Hruskova, Lucie

Subjects
CHECKPOINT kinase 2, BREAST cancer, RNA analysis, OVARIAN cancer, HEREDITARY cancer syndromes, CANCER patients
Abstract

Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.Tyr337PhefsTer37). The variant was found in 21/10,204 (0.21%) Czech FBC patients compared to 1/3250 (0.03%) controls (p = 0.04) and in 4/3639 (0.11%) FBC patients from an independent German dataset. In addition, we found this variant in 5/2966 (0.17%) Czech (but none of the 443 German) ovarian cancer patients, three of whom developed early-onset tumors. Based on these observations, we classified this variant as likely pathogenic. • Deep intronic CHEK2 variant c.1009-118_1009-87delinsC causes splice acceptor shift. • The aberrant transcript p.Tyr337PhefsTer37 is subjected to nonsense-mediated decay. • The variant was significantly enriched in breast cancer patients compared to controls. • Carriers developed early-onset ER + breast cancer, a signature of CHEK2 mutations. • Our study supports that the c.1009-118_1009-87delinsC variant is likely pathogenic. [ABSTRACT FROM AUTHOR]

Published
2024
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47. The European network for care of children with paediatric rheumatic diseases: care across borders

Author

Dolezalova P, Anton-Lopez J, Avcin T, Beresford MW, Brogan PA, Constantin T, Egert Y, Foeldvari I, Foster HE, Hentgen V, Kone-Paut I, Kuemmerle-Deschner JB, Lahdenne P, Magnusson B, Martini A, McCann L, Minden K, Ozen S, Schoemaker C, Quartier P, Ravelli A, Rumba-Rozenfelde I, Ruperto N, Vastert S, Wouters C, Zulian F, Wulffraat NM, and SHARE Consortium and the Paediatric Rheumatology International Trials Organisati

Subjects
standards of care, paediatric rheumatology, service provision
Abstract

OBJECTIVES: To provide an overview of the paediatric rheumatology (PR) services in Europe, describe current delivery of care and training, set standards for care, identify unmet needs and inform future specialist service provision. METHODS: An online survey was developed and presented to national coordinating centres of the Paediatric Rheumatology International Trials Organisation (PRINTO) (country survey) and to individual PR centres (centre and disease surveys) as a part of the European Union (EU) Single Hub and Access point for paediatric Rheumatology in Europe project. The survey contained components covering the organization of PR care, composition of teams, education, health care and research facilities and assessment of needs. RESULTS: Response rates were 29/35 (83%) for country surveys and 164/288 (57%) for centre surveys. Across the EU, approximately one paediatric rheumatologist is available per million population. In all EU member states there is good access to specialist care and medications, although biologic drug availability is worse in Eastern European countries. PR education is widely available for physicians but is insufficient for allied health professionals. The ability to participate in clinical trials is generally high. Important gaps were identified, including lack of standardized clinical guidelines/recommendations and insufficient adolescent transition management planning. CONCLUSION: This study provides a comprehensive description of current specialist PR service provision across Europe and did not reveal any major differences between EU member states. Rarity, chronicity and complexity of diseases are major challenges to PR care. Future work should facilitate the development, dissemination and implementation of standards of care, treatment and service recommendations to further improve patient-centred health care across Europe.

Published
2019

49. PRINTO/PRES international website for families of children with rheumatic diseases: www.pediatric-rheumatology.printo.it

Author

Ruperto, N, Garcia-Munitis, P, Villa, L, Pesce, M, Aggarwal, A, Fasth, A, Avcin, T, Bae, S-C, Balogh, Z, Li, C, De Inocencio, J, Dibra, M, Dolezalova, P, Miedany, Y El, Flato, B, Harjacek, M, Huppertz, H-I, Kanakoudi-Tsakalidou, F, Wulffraat, N, Lahdenne, P, Melo-Gomes, J A, Mihaylova, D, Nielsen, S, Nikishina, I, Ozdogan, H, Pagava, K, Panaviene, V, Prieur, A-M, Romicka, A-M, Rumba, I, Shafaie, N, Susic, G, Takei, S, Uziel, Y, Vesely, R, Woo, P, and Martini, A

Published
2005

50. The longitudinal Eurofever project: an update on enrollment.

Author

Gueli, I, Finetti, M, De Benedetti, F, Anton, J, Alessio, M, Frenkel, J, Cantarini, L, Gallizzi, R, Sanchez Manubens, J, Cattalini, M, Papadopoulou-Alataki, E, Cimaz, R, Rigante, D, Olivieri, An, Dolezalova, P, Martini, A, Ruperto, N, Gattorno, M, Rigante D (ORCID:0000-0001-7032-7779), Gueli, I, Finetti, M, De Benedetti, F, Anton, J, Alessio, M, Frenkel, J, Cantarini, L, Gallizzi, R, Sanchez Manubens, J, Cattalini, M, Papadopoulou-Alataki, E, Cimaz, R, Rigante, D, Olivieri, An, Dolezalova, P, Martini, A, Ruperto, N, Gattorno, M, and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

In 2008 the Pediatric Rheumatology European Society (PReS) promoted an International Project for the study of Autoinflammatory Diseases (AIDs) named Eurofever, whose main purpose was to create a web-based registry for the collection of information in AIDs patients all over the world. Until now 4175 patients have been enrolled (3843 of them with complete demographic information, 1903 M e 1940 F) from different countries. Main goal of the registry is to implement our general knowledge on AIDs with the new recently described conditions included in this group of disorders and to increase the collection of longitudinal data about heterogeneous patients.

Published
2019

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