Article
Chemistry, Multidisciplinary
Michele D'Attilio, Beatrice Di Carlo, Francesco Caroccia, Francesco Moscagiuri, Debora Mariarita D'Angelo, Francesco Chiarelli, Felice Festa, Luciana Breda
Summary: The study showed that JIA patients have significant muscle pain, reduced mouth opening width, and noticeable jaw deviation during mouth opening compared to healthy individuals.
APPLIED SCIENCES-BASEL
(2021)
Article
Rheumatology
Johanna Roemer, Ariane Klein, Gerd Horneff
Summary: This study aimed to investigate the prevalence of depressive symptoms and depression in children with Juvenile idiopathic arthritis (JIA) and identify associated risk factors. The results showed a high prevalence of depressive symptoms and depression in JIA patients, which were significantly associated with disease activity, treatment response, and other factors. Therefore, early recognition and treatment of psychological distress are essential for preventing deterioration in quality of life and long-term prognosis in JIA patients.
RHEUMATOLOGY INTERNATIONAL
(2023)
Article
Medicine, General & Internal
Monika Ostrowska, Emil Michalski, Piotr Gietka, Malgorzata Manczak, Magdalena Posadzy, Iwona Sudol-Szopinska
Summary: This study compared MRI findings between patients clinically suspected of Juvenile Idiopathic Arthritis (JIA) and patients with ankle arthralgia of unknown cause. The results showed that inflammatory features were observed on MRI, with tenosynovitis being significantly more common in JIA patients. However, the MRI summarized score did not effectively differentiate between JIA and non-JIA patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Rehabilitation
Xinmiao Hu, Jing Ren, Ping Wang, Wenjian Chen, Wei Shen, Yan Li, Tiantian Xiao, Yan Dai, Yan Sang
Summary: The purpose of this study was to identify parameters and measurement methods of exercise therapy adherence, as well as barriers and facilitators affecting adherence among children and adolescents with juvenile idiopathic arthritis (JIA). The results showed that 29%-99% of patients with JIA adhered to exercise therapy. The most commonly measured parameters were session completion and behavior component, with self-report log being the most common means of assessment. The main barriers included time pressure, symptoms related to JIA, lack of enjoyment, and insufficient motivation, while facilitators were adequate motivation, effective symptoms management, and social support.
DISABILITY AND REHABILITATION
(2023)
Article
Dentistry, Oral Surgery & Medicine
Elisabeth G. Gil, Anne N. Astrom, Stein Atle Lie, Marite Rygg, Johannes Fischer, Annika Rosen, Athanasia Bletsa, Keijo Luukko, Xie-Qi Shi, Josefine Halbig, Paula Frid, Lena Cetrelli, Karin Tylleskar, Karen Rosendahl, Marit S. Skeie
Summary: The results of the study showed that there was no significant difference in caries prevalence at the individual level between individuals with JIA and controls, but low maternal educational level and tooth surface were associated with caries presence. Surface-specific caries in the permanent dentition varied significantly according to group affiliation, and some JIA disease-specific variables may be associated with caries presence.
Article
Medicine, General & Internal
Ana Carolina Londe, Jaqueline Cristina de Amorim, Paulo Rogerio Julio, Nico M. Wulffraat, Roberto Marini, Simone Appenzeller
Summary: The study aimed to translate and validate the Methotrexate (MTX) Intolerance Severity Score (MISS) questionnaire into Brazilian Portuguese for children and adolescents. The findings showed that MISS is a feasible and practical tool for routine clinical care to identify MTX intolerance in JIA.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Psychology, Multidisciplinary
Muhammad Badarnee, Irit Tirosh, Shulamith Kreitler
Summary: This study aims to identify psychological tendencies specific to juvenile idiopathic arthritis (JIA) that contribute to the patients' vulnerability to stress. The results show that JIA patients are characterized by themes such as being over-sensitive, striving for success, and not fulfilling duties well. These themes can differentiate between patients and the control group with a high accuracy rate. The study also discusses the impact of these psychological tendencies on stress and cognitive conflicts, as well as suggestions for reflecting these tendencies in the healthcare provider-patient relationships, such as egalitarian interaction and non-formal communication style.
SCANDINAVIAN JOURNAL OF PSYCHOLOGY
(2022)
Article
Dentistry, Oral Surgery & Medicine
J. Fischer, T. A. Augdal, O. Angenete, E. G. Gil, M. S. Skeie, A. N. Astrom, K. Tylleskar, K. Rosendahl, X. Q. Shi, A. Rosen
Summary: The study found no association between painful TMD and CBCT imaging features of the TMJ in patients with JIA. However, in the oligoarticular subtype of JIA, there was a significant difference associated with TMJ pain and structural CBCT deformities.
Article
Multidisciplinary Sciences
Willemijn F. C. de Sonnaville, Michel H. Steenks, Nicolaas P. A. Zuithoff, Nico M. Wulffraat, Antoine J. W. P. Rosenberg, Caroline M. Speksnijder
Summary: This cross-sectional study aimed to determine the reliability of AMVBF in children with JIA and healthy children. The results showed that AMVBF measurements have good to excellent reliability in children with JIA and moderate to excellent reliability in healthy children. Values above 11.4N might be a clinically relevant change over time in children with JIA.
Review
Biochemistry & Molecular Biology
Magdalena Wojdas, Klaudia Dabkowska, Katarzyna Winsz-Szczotka
Summary: Juvenile idiopathic arthritis (JIA) is the most common chronic connective tissue disease in children, characterized by inflammation-induced destruction of articular cartilage. Understanding the metabolic changes in extracellular matrix (ECM) components in the course of JIA may lead to the introduction of new therapeutic strategies for children with JIA, beyond just diagnosing disease activity.
Article
Pediatrics
Sirikarn Tangcheewinsirikul, Maynart Sukharomana, Sirirat Charuvanij
Summary: This study aimed to investigate the prevalence of disability and damage, and identify the factors associated with articular and extra-articular damage in children and adolescents with juvenile idiopathic arthritis (JIA) in a resource-restricted setting in Thailand. The results showed that one-fifth of JIA patients had disability, one-fifth had articular damage, and one-third had extra-articular complications. Early detection and treatment are essential for preventing permanent damage.
PEDIATRIC RHEUMATOLOGY
(2023)
Article
Rheumatology
Julie A. Campbell, Susan Shenoi
Summary: This case series investigates the characteristics of 12 patients diagnosed with juvenile idiopathic arthritis (JIA) at younger than 12 months. The results show that children with infantile JIA are overall similar to older children with JIA, but there is a larger delay in diagnosis and a high prevalence of joint contractures.
JCR-JOURNAL OF CLINICAL RHEUMATOLOGY
(2022)
Article
Rheumatology
Nicolino Ruperto, Hermine Brunner, Athimalaipet Ramanan, Gerd Horneff, Ruben Cuttica, Michael Henrickson, Jordi Anton, Alina Lucica Boteanu, Inmaculada Calvo Penades, Kirsten Minden, Heinrike Schmeling, Markus Hufnagel, Jennifer E. Weiss, Manuela Pardeo, Kabita Nanda, Johannes Roth, Nadina Rubio-Perez, Joy C. Hsu, Sunethra Wimalasundera, Chris Wells, Kamal Bharucha, Wendy Douglass, Min Bao, Navita L. Mallalieu, Alberto Martini, Daniel Lovell, Fabrizio De Benedetti
Summary: The study found that the dosing regimens of s.c. tocilizumab in systemic JIA and polyarticular JIA are similar to i.v. tocilizumab with good efficacy. Additionally, the subcutaneous administration route is more convenient and suitable for at-home use.
Article
Rheumatology
Justine Maller, Emily Fox, K. T. Park, Sarah Sertial Paul, Kevin Baszis, Charlotte Borocco, Sampath Prahalad, Pierre Quartier, Adam Reinhardt, Dieneke Schonenberg-Meinema, Lauren Shipman-Duensing, Maria Teresa Terreri, Julia Simard, Idit Lavi, Elizabeth Chalom, Joyces Hsu, Devy Zisman, Elizabeth D. Mellins
Summary: The occurrence of inflammatory bowel disease in the setting of systemic juvenile idiopathic arthritis is rare, with patients showing favorable response to tumor necrosis factor-alpha inhibitors.
JOURNAL OF RHEUMATOLOGY
(2021)
Article
Rheumatology
Chitra Lalloo, Lauren R. Harris, Amos S. Hundert, Roberta Berard, Joseph Cafazzo, Mark Connelly, Brian M. Feldman, Kristin Houghton, Adam Huber, Ronald M. Laxer, Nadia Luca, Heinrike Schmeling, Lynn Spiegel, Lori B. Tucker, Quynh Pham, Cleo C. Davies-Chalmers, Jennifer N. Stinson
Summary: The study evaluated the feasibility and preliminary effectiveness of the iCanCope with Pain smartphone program in adolescents with JIA, showing high rates of participation, successful deployment, and high acceptability. There was a meaningful reduction in pain intensity, but no statistically significant difference was found between the two groups.
Article
Rheumatology
Gloria Fadanelli, Anna Agazzi, Fabio Vittadello, Alessandra Meneghel, Francesco Zulian, Giorgia Martini
Summary: Most children with linear scleroderma respond well to methotrexate treatment, achieving complete and long-lasting remission. The overall aesthetic and functional sequelae are moderate, likely due to early establishment of tissue damage and stabilization of the damage through treatment. Early diagnosis, methotrexate treatment, and long-term monitoring are crucial for improving outcomes and promptly identifying flares.
ARTHRITIS CARE & RESEARCH
(2021)
Article
Pediatrics
Silvia Pizzighello, Marinela Vavla, Nadia Minicuci, Alda Pellegri, Andrea Martinuzzi
Summary: The study observed a decrease in the duration of rehabilitative treatment and quadriplegia rates, while diplegia rates increased over the decades. Spasticity was the prevalent motor type observed. Musculoskeletal disorders mostly involved the middle inferior part of the body.
PEDIATRICS AND NEONATOLOGY
(2021)
Article
Clinical Neurology
Ian H. Harding, Sidhant Chopra, Filippo Arrigoni, Sylvia Boesch, Arturo Brunetti, Sirio Cocozza, Louise A. Corben, Andreas Deistung, Martin Delatycki, Stefano Diciotti, Imis Dogan, Stefania Evangelisti, Marcondes C. Franca, Sophia L. Goericke, Nellie Georgiou-Karistianis, Laura L. Gramegna, Pierre-Gilles Henry, Carlos R. Hernandez-Castillo, Diane Hutter, Neda Jahanshad, James M. Joers, Christophe Lenglet, Raffaele Lodi, David N. Manners, Alberto R. M. Martinez, Andrea Martinuzzi, Chiara Marzi, Mario Mascalchi, Wolfgang Nachbauer, Chiara Pane, Denis Peruzzo, Pramod K. Pisharady, Giuseppe Pontillo, Kathrin Reetz, Thiago J. R. Rezende, Sandro Romanzetti, Francesco Sacca, Christoph Scherfler, Joerg B. Schulz, Ambra Stefani, Claudia Testa, Sophia Thomopoulos, Dagmar Timmann, Stefania Tirelli, Caterina Tonon, Marinela Vavla, Gary F. Egan, Paul M. Thompson
Summary: Friedreich ataxia (FRDA) is characterized by progressive movement incoordination and is associated with significant reductions in brain volume in regions such as the brainstem and cerebellum. Differences in brain volume are influenced by factors such as age of onset, disease duration, and severity, with certain regions showing more pronounced volume deficits in more advanced cases. This study highlights the importance of considering the spatial profile and progressive evolution of structural brain abnormalities in individuals with FRDA for further research and clinical trials.
ANNALS OF NEUROLOGY
(2021)
Letter
Dermatology
Enrico Valerio, Ramon Grimalt, Francesco Zulian, Vera Perri, Mario Cutrone
INTERNATIONAL JOURNAL OF DERMATOLOGY
(2022)
Review
Clinical Neurology
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, Jacopo Baldacci, Rosa Pasquariello, Antonella Antenora, Guja Astrea, Maria Teresa Bassi, Roberta Battini, Carlo Casali, Ettore Cioffi, Greta Conti, Giovanna De Michele, Anna Rita Ferrari, Alessandro Filla, Chiara Fiorillo, Carlo Fusco, Salvatore Gallone, Chiara Germiniasi, Renzo Guerrini, Shalom Haggiag, Diego Lopergolo, Andrea Martinuzzi, Federico Melani, Andrea Mignarri, Elena Panzeri, Antonella Pini, Anna Maria Pinto, Francesca Pochiero, Guido Primiano, Elena Procopio, Alessandra Renieri, Romina Romaniello, Cristina Sancricca, Serenella Servidei, Carlotta Spagnoli, Chiara Ticci, Anna Rubegni, Filippo Maria Santorelli
Summary: Background: Monoallelic variants in the KIF1A gene are associated with various clinical phenotypes involving the central and peripheral nervous system. Methods: In a multicenter study, 28 index cases with heterozygous variants in KIF1A were analyzed for clinical, genetic, and neuroradiological features. Results: Nine novel monoallelic variants and one copy number variation encompassing KIF1A were identified. Mutations mainly occurred de novo and in the motor domain, with most patients showing a spectrum of ataxia-spasticity disorders and some presenting secondary impairment of oxidative metabolism. Ubiquinol supplementation therapy showed subjective benefit in a subset of patients. Conclusions: This study expanded our understanding of KIF1A-related disorders, highlighting the heterogeneous nature of manifestations and the potential therapeutic role of ubiquinol supplementation in certain patients.
JOURNAL OF NEUROLOGY
(2022)
Article
Ophthalmology
Francesca Tirelli, Maria Elisabetta Zannin, Fabio Vittadello, Jacopo Agnolucci, Monica Mazzarolo, Francesco Zulian
Summary: The study evaluated the long-term efficacy of MTX monotherapy in patients with JIA-U and found that although effective in the early stages, MTX showed poor disease control in the long term, with many patients eventually needing biologic agents for treatment.
OCULAR IMMUNOLOGY AND INFLAMMATION
(2022)
Editorial Material
Neurosciences
Andrea Martinuzzi, Craig Blackstone, Cahir J. O'Kane, Giovanni Stevanin
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Medical Informatics
Silvia Cozzi, Andrea Martinuzzi, Vincenzo Della Mea
Summary: In this study, an ontological formalization of ICF focusing on the interaction between activities and participation and environmental factors was proposed. A conceptual model with 202 entities was defined and validated against 60 case studies from the literature and 6 ad-hoc case studies. The model was then represented using OWL, which may serve as a basis for revising the ICF classification in alignment with WHO's efforts on the International Classification of Diseases and the International Classification of Health Interventions.
BMC MEDICAL INFORMATICS AND DECISION MAKING
(2021)
Correction
Clinical Neurology
Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, Jacopo Baldacci, Rosa Pasquariello, Antonella Antenora, Guja Astrea, Maria Teresa Bassi, Roberta Battini, Carlo Casali, Ettore Cioffi, Greta Conti, Giovanna De Michele, Anna Rita Ferrari, Alessandro Filla, Chiara Fiorillo, Carlo Fusco, Salvatore Gallone, Chiara Germiniasi, Renzo Guerrini, Shalom Haggiag, Diego Lopergolo, Andrea Martinuzzi, Federico Melani, Andrea Mignarri, Elena Panzeri, Antonella Pini, Anna Maria Pinto, Francesca Pochiero, Guido Primiano, Elena Procopio, Alessandra Renieri, Romina Romaniello, Cristina Sancricca, Serenella Servidei, Carlotta Spagnoli, Chiara Ticci, Anna Rubegni, Filippo Maria Santorelli
JOURNAL OF NEUROLOGY
(2022)
Editorial Material
Clinical Neurology
Alejandro Lucia, Andrea Martinuzzi, Gisela Nogales-Gadea, Ros Quinlivan, Stacey Reason
NEUROMUSCULAR DISORDERS
(2021)
Article
Environmental Sciences
Matilde Leonardi, Haejung Lee, Nenad Kostanjsek, Arianna Fornari, Alberto Raggi, Andrea Martinuzzi, Manuel Yanez, Ann-Helene Almborg, Magdalena Fresk, Yanina Besstrashnova, Alexander Shoshmin, Shamyr Sulyvan Castro, Eduardo Santana Cordeiro, Marie Cuenot, Christine Haas, Soraya Maart, Thomas Maribo, Janice Miller, Masahiko Mukaino, Stefanus Snyman, Ulrike Trinks, Heidi Anttila, Jaana Paltamaa, Patricia Saleeby, Lucilla Frattura, Ros Madden, Catherine Sykes, Coen H. van Gool, Jakub Hrkal, Miroslav Zvolsky, Petra Sladkova, Marie Vikdal, Guorun Auour Haroardottir, Josephine Foubert, Robert Jakob, Michaela Coenen, Olaf Kraus de Camargo
Summary: The International Classification of Functioning Disability and Health (ICF) has gained increased interest in various sectors since its approval in 2001. Most countries primarily use ICF in clinical practice, policy development, and education areas. Although ICF is applied in different sectors, it is not mandatory in most countries.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Article
Pediatrics
Elena Vinante, Elena Colombo, Gabriella Paparella, Michela Martinuzzi, Andrea Martinuzzi
Summary: This study retrospectively observed respiratory data of 44 FRDA patients and identified a recurring pattern of restrictive respiratory dysfunction. The severity of the respiratory condition was found to correlate with the severity of the disease, pneumophonic alterations, and the severity of thoracic scoliotic curve. This suggests that respiratory function impairment is common in FRDA.
Article
Multidisciplinary Sciences
Vincenzo Della Mea, Ann-Helene Almborg, Michela Martinuzzi, Samson W. Tu, Andrea Martinuzzi
Summary: This article compares the anatomy representations in ICF and ICD-11, highlighting the differences between them and discussing how to reconcile these differences in compliance with the WHO approach to classification modeling and maintenance.
Proceedings Paper
Computer Science, Interdisciplinary Applications
Kevin Roitero, Andrea Martinuzzi, Maria Teresa Armellin, Gabriella Paparella, Alberto Maniero, Vincenzo Della Mea
Summary: In this paper, the authors tackle the challenging task of coding rehabilitation notes using ICF by developing a model based on the popular language model BERT. They effectively encode Italian rehabilitation notes by leveraging continual training of the model with ICF textual descriptions.
CARING IS SHARING-EXPLOITING THE VALUE IN DATA FOR HEALTH AND INNOVATION-PROCEEDINGS OF MIE 2023
(2023)
Article
Medicine, General & Internal
Federico Baronio, Stefano Zucchini, Francesco Zulian, Mariacarolina Salerno, Rossella Parini, Alessandro Cattoni, Federica Deodato, Alberto Gaeta, Carla Bizzarri, Serena Gasperini, Andrea Pession
Summary: Diagnostic delay is common in MPS Ia due to the rarity of the disease and the variability of clinical presentation. A multidisciplinary panel developed an algorithm to improve awareness and reduce diagnostic delay of MPS Ia in pediatric endocrinologists.
MEDICINA-LITHUANIA
(2022)
