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11. Second intravenous immunoglobulin dose in patients with Guillain-Barré syndrome with poor prognosis (SID-GBS): a double-blind, randomised, placebo-controlled trial

Author

Walgaard, Christa, Jacobs, Bart C., Lingsma, Hester F., Steyerberg, Ewout W., Van den Berg, Bianca, Doets, Alexandra Y., Leonhard, Sonja E., Verboon, Christine, Huizinga, Ruth, Drenthen, Judith, Arends, Samuel, Kleine Budde, Ilona, Kleyweg, Ruud P., Kuitwaard, Krista, Van der Meulen, Marjon F.G., Samijn, Johnny P.A., Vermeij, Frederique H., Kuks, Jan B.M., Van Dijk, Gert W., Wirtz, Paul W., Eftimov, Filip, Van der Kooi, Anneke J., Garssen, Marcel P.J., Gijsbers, Cees J., De Rijk, Maarten C., Visser, Leo H., Blom, Roderik J., Linssen, Wim H.J.P., Van der Kooi, Elly L., Verschuuren, Jan J.G.M., Van Koningsveld, Rinske, Dieks, Rita J.G., Gilhuis, H. Job, Jellema, Korné, Van der Ree, Taco C., Bienfait, Henriette M.E., Faber, Karin G., Lovenich, Harry, Van Engelen, Baziel G.M., Groen, Rutger J., Merkies, Ingemar S.J., Van Oosten, Bob W., Van der Pol, W. Ludo, Van der Meulen, Willem D.M., Badrising, Umesh A., Stevens, Martijn, Breukelman, Albert-Jan J., Zwetsloot, Casper P., Van der Graaff, Maaike M., Wohlgemuth, Marielle, Hughes, Richard A.C., Cornblath, David R., Van Doorn, Pieter A., Althingh van Geusau, R.B., Van Boheemen, C.J.M., Bronner, I.M., Feenstra, B., Fokke, C., Hoogendoorn, T.A., Van Houten, R., Hovestad, A., Jansen, P.J.H.W., Keuter, E., Krudde, J., Linn, F.H.H., Lion, J., Manschot, S.M., Mellema, S.J., Molenaar, D.S.M., Nieuwkamp, D.J., Oenema, D.G., Van Oostrom, J.C.H., Van Orshoven, N.P., Van der Ploeg, R.J.O., Polman, S., Ruitenberg, A., Ruts, L., Schyns-Soeterboek, A.J.G.M., Trip, R., Jacobs, Bart C, Lingsma, Hester F, Steyerberg, Ewout W, van den Berg, Bianca, Doets, Alexandra Y, Leonhard, Sonja E, Budde, Ilona Kleine, Kleyweg, Ruud P, van der Meulen, Marjon F G, Samijn, Johnny P A, Vermeij, Frederique H, Kuks, Jan B M, van Dijk, Gert W, Wirtz, Paul W, van der Kooi, Anneke J, Garssen, Marcel P J, Gijsbers, Cees J, de Rijk, Maarten C, Visser, Leo H, Blom, Roderik J, Linssen, Wim H J P, van der Kooi, Elly L, Verschuuren, Jan J G M, van Koningsveld, Rinske, Dieks, Rita J G, Gilhuis, H Job, van der Ree, Taco C, Bienfait, Henriette M E, Faber, Catharina G, van Engelen, Baziel G M, Groen, Rutger J, Merkies, Ingemar S J, van Oosten, Bob W, van der Pol, W Ludo, van der Meulen, Willem D M, Badrising, Umesh A, Breukelman, Albert-Jan J, Zwetsloot, Casper P, van der Graaff, Maaike M, Hughes, Richard A C, Cornblath, David R, and van Doorn, Pieter A

Published
2021
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13. Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.

Author

Misra, Kaalindi, Ślęczkowska, Milena, Santoro, Silvia, Gerrits, Monique M., Mascia, Elisabetta, Marchi, Margherita, Salvi, Erika, Smeets, Hubert J. M., Hoeijmakers, Janneke G. J., Martinelli Boneschi, Filippo Giovanni, Filippi, Massimo, Lauria Pinter, Giuseppe, Faber, Catharina G., and Esposito, Federica

Subjects
NICOTINIC acetylcholine receptors, AGE of onset, PERIPHERAL nervous system, NEUROPATHY, SODIUM channels, TRP channels, OPIOID receptors
Abstract

Small-Fiber Neuropathy (SFN) is a disorder of the peripheral nervous system, characterised by neuropathic pain; approximately 11% of cases are linked to variants in Voltage-Gated Sodium Channels (VGSCs). This study aims to broaden the genetic knowledge on painful SFN by applying Whole-Exome Sequencing (WES) in Early-Onset (EO) cases. A total of 88 patients from Italy (n = 52) and the Netherlands (n = 36), with a disease onset at age ≤ 45 years old and a Pain Numerical Rating Score ≥ 4, were recruited. After variant filtering and classification, WES analysis identified 142 potentially causative variants in 93 genes; 8 are Pathogenic, 15 are Likely Pathogenic, and 119 are Variants of Uncertain Significance. Notably, an enrichment of variants in transient receptor potential genes was observed, suggesting their role in pain modulation alongside VGSCs. A pathway analysis performed by comparing EO cases with 40 Italian healthy controls found enriched mutated genes in the "Nicotinic acetylcholine receptor signaling pathway". Targeting this pathway with non-opioid drugs could offer novel therapeutic avenues for painful SFN. Additionally, with this study we demonstrated that employing a gene panel of reported mutated genes could serve as an initial screening tool for SFN in genetic studies, enhancing clinical diagnostics. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Predicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Score

Author

Doets, Alex Y, Lingsma, Hester F, Walgaard, Christa, Islam, Badrul, Papri, Nowshin, Davidson, Amy, Yamagishi, Yuko, Kusunoki, Susumu, Dimachkie, Mazen M, Waheed, Waqar, Kolb, Noah, Islam, Zhahirul, Mohammad, Quazi Deen, Harbo, Thomas, Sindrup, Soren H, Chavada, Govindsinh, Willison, Hugh J, Casasnovas, Carlos, Bateman, Kathleen, Miller, James AL, van den Berg, Bianca, Verboon, Christine, Roodbol, Joyce, Leonhard, Sonja E, Benedetti, Luana, Kuwabara, Satoshi, Van den Bergh, Peter, Monges, Soledad, Marfia, Girolama A, Shahrizaila, Nortina, Galassi, Giuliana, Péréon, Yann, Bürmann, Jan, Kuitwaard, Krista, Kleyweg, Ruud P, Marchesoni, Cintia, Sedano Tous, María J, Querol, Luis, Illa, Isabel, Wang, Yuzhong, Nobile-Orazio, Eduardo, Rinaldi, Simon, Schenone, Angelo, Pardo, Julio, Vermeij, Frederique H, Lehmann, Helmar C, Granit, Volkan, Cavaletti, Guido, Gutiérrez-Gutiérrez, Gerardo, Barroso, Fabio A, Visser, Leo H, Katzberg, Hans D, Dardiotis, Efthimios, Attarian, Shahram, van der Kooi, Anneke J, Eftimov, Filip, Wirtz, Paul W, Samijn, Johnny PA, Gilhuis, H Jacobus, Hadden, Robert DM, Holt, James KL, Sheikh, Kazim A, Karafiath, Summer, Vytopil, Michal, Antonini, Giovanni, Feasby, Thomas E, Faber, Catharina G, Gijsbers, Cees J, Busby, Mark, Roberts, Rhys C, Silvestri, Nicholas J, Fazio, Raffaella, van Dijk, Gert W, Garssen, Marcel PJ, Straathof, Chiara SM, Gorson, Kenneth C, and Jacobs, Bart C

Published
2021
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20. Patient satisfaction and patient accessibility in a small fiber neuropathy diagnostic service in the Netherlands: A single-center, prospective, survey-based cohort study.

Author

Geerts, Margot, Hoeijmakers, Janneke G. J., Essers, Brigitte A. B., Merkies, Ingemar S. J., Faber, Catharina G., and Goossens, Mariëlle E. J. B.

Subjects
PATIENT satisfaction, DIAGNOSTIC services, COHORT analysis, NURSE practitioners, SATISFACTION, NEUROPATHY
Abstract

Introduction: Small fiber neuropathy (SFN) is a common cause of neuropathic pain in peripheral neuropathies. Good accessibility of diagnostics and treatment is necessary for an accurate diagnosis and treatment of SFN. Evidence is lacking on the quality performance of the diagnostic SFN service in the Netherlands. Our aim was to determine the patient satisfaction and -accessibility of the diagnostic SFN service, and to identify areas for improvement. Methods: In a single-center, prospective, survey-based cohort study, 100 visiting patients were asked to fill in the SFN patient satisfaction questionnaire (SFN-PSQ), with 10 domains and 51 items. Cut-off point for improvement was defined as ≥ 25% dissatisfaction on an item. A chi-square test and linear regression analyses was used for significant differences and associations of patient satisfaction. Results: From November 2020 to May 2021, 98 patients with SFN-related complaints filled in the online SFN-PSQ within 20 minutes. In 84% of the patients SFN was confirmed, average age was 55.1 (52.5–57.8) years and 67% was female. High satisfaction was seen in the domains 'Waiting List Period', Chest X-ray', 'Consultation with the Doctor or Nurse Practitioner (NP)', 'Separate Consultation with the Doctor or NP about Psychological Symptoms', and 'General' of the SFN service. Overall average patient satisfaction score was 8.7 (IQR 8–10) on a 1-to-10 rating scale. Main area for improvement was shortening the 8-week period for receiving the results of the diagnostic testing (p < 0.05). General health status was statistically significant associated with patient satisfaction (p < 0.05) Conclusion: A good reflection of the high patient satisfaction and -accessibility of the SFN-service is shown, with important points for improvement. These results could help hospitals widely to optimize the logistic and diagnostic pathway of SFN analysis, benchmarking patient satisfaction results among the hospitals, and to improve the quality of care of comparable SFN services. [ABSTRACT FROM AUTHOR]

Published
2024
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21. Development, validation and feasibility of a Patient Satisfaction Questionnaire for evaluating the quality performance of a diagnostic small fibre neuropathy service: A qualitative study.

Author

Geerts, Margot, Hoeijmakers, Janneke G. J., Essers, Brigitte A. B., Merkies, Ingemar S. J., Faber, Catharina G., and Goossens, Mariëlle E. J. B.

Subjects
NEUROPATHY, HEALTH services accessibility, SCALE analysis (Psychology), QUALITATIVE research, DIAGNOSTIC services, OUTPATIENT services in hospitals, MEDICAL quality control, CRONBACH'S alpha, NEUROLOGISTS, EXECUTIVES, HEALTH status indicators, QUESTIONNAIRES, RESEARCH methodology evaluation, PILOT projects, RESEARCH evaluation, INTERVIEWING, CONTENT analysis, CONTINUUM of care, DESCRIPTIVE statistics, CHEST X rays, ANXIETY, EXPERIMENTAL design, SOUND recordings, ELECTROCARDIOGRAPHY, RESEARCH methodology, NEUROLOGY, QUALITY assurance, PATIENT satisfaction, DELPHI method, PHYSICIANS, CONFIDENCE intervals, PATIENTS' attitudes, COGNITION, MEDICAL referrals, NERVE conduction studies, MENTAL depression
Abstract

Introduction and Aim: Small fibre neuropathy (SFN) is a peripheral neuropathy, leading to neuropathic pain and autonomic dysfunction. An evidence‐based standardized patient diagnostic SFN service has been implemented in the Netherlands for improving patient‐centred SFN care. However, the quality of care of this diagnostic SFN service has never been assessed from a patient perspective. The aim of this study was to develop and validate an SFN‐Patient Satisfaction Questionnaire (SFN‐PSQ) to measure the quality performance of a standardized diagnostic SFN service. Methods: A descriptive qualitative study to create the SFN‐PSQ was performed using the (COREQ (Consolidated Criteria for Reporting Qualitative Research) checklist. For item generation and content development, domains and/or items from validated PSQs were selected. The content development and content validity were performed using a Delphi method with SFN expert caregivers with different backgrounds. By using the three‐step‐test method in individual cognitive interviews, the content validity by patients was finalized. Results: In one online Delphi panel round, the content of the first concept of the SFN‐PSQ was validated, which resulted in the second concept of the SFN‐PSQ. From July 2019 till March 2020, nine patients consented to participate in the individual cognitive interviews. The most significant changes of the new questionnaire were adding domains and items concerning the waiting list, the diagnostic services and consultation by the hospital psychiatrist. Also, a differentiation was made for both an inpatient and outpatient diagnostic SFN service. Furthermore, the clarity and intelligibility of the domains/items were improved, resulting in an increased comprehension of the SFN‐PSQ. Ultimately, the new developed SFN‐PSQ consisted of 10 domains and 51 items, suitable for measuring patient satisfaction of the neurological analysis in patients with SFN. Conclusion: Through item generation, expert opinions and interviews with patients, the SFN‐PSQ was developed and validated, and feasibility was confirmed. The structure of the questionnaire, based on the logistic and diagnostic SFN pathway, could be used as a model in other hospitals to improve the quality, continuity and access of SFN care and other chronic diseases taking into account potential cross‐cultural differences. Patient or Public Contribution: Caregivers were involved in the item generation and content development of the questionnaire. Patients were directly involved in testing the content validity and feasibility of the SFN‐PSQ. Clinical Trial Registration: Not applicable. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

Author

Kierkegaard, Marie, Okkersen, Kees, Jimenez-Moreno, Cecilia, Wenninger, Stephan, Daidj, Ferroudja, Glennon, Jeffrey, Cumming, Sarah, Littleford, Roberta, Monckton, Darren, Lochmüller, Hanns, Catt, Michael, Faber, Catharina, Hapca, Adrian, Donnan, Peter, Gorman, Gráinne, Bassez, Guillaume, Schoser, Benedikt, Knoop, Hans, Treweek, Shaun, van Engelen, Baziel, Maas, Daphne, Nikolaus, Stephanie, Cornelissen, Yvonne, van Nimwegen, Marlies, Klerks, Ellen, Bouman, Sacha, Heskamp, Linda, Heerschap, Arend, Rahmadi, Ridho, Groot, Perry, Heskes, Tom, Kapusta, Katarzyna, Abghari, Shaghayegh, Aschrafi, Armaz, Poelmans, Geert, Raaphorst, Joost, Trenell, Michael, van Laar, Sandra, Wood, Libby, Cassidy, Sophie, Newman, Jane, Charman, Sarah, Steffaneti, Renae, Taylor, Louise, Brownrigg, Allan, Day, Sharon, Atalaya, Antonio, Hogarth, Fiona, Schüller, Angela, Stahl, Kristina, Künzel, Heike, Wolf, Martin, Jelinek, Anna, Lignier, Baptiste, Couppey, Florence, Delmas, Stéphanie, Deux, Jean-François, Hankiewicz, Karolina, Dogan, Celine, Minier, Lisa, Chevalier, Pascale, Hamadouche, Amira, Adam, Berit, Hannah, Michael, McKenzie, Emma, Rauchhaus, Petra, Van Hees, Vincent, Catt, Sharon, Schwalber, Ameli, Merkies, Ingemar, Dittrich, Juliane, Monckton, Darren G, Faber, Catharina G, Donnan, Peter T, and van Engelen, Baziel G M

Published
2018
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24. Oral fingolimod for chronic inflammatory demyelinating polyradiculoneuropathy (FORCIDP Trial): a double-blind, multicentre, randomised controlled trial

Author

Day, Timothy, Spies, Judith, Roberts, Leslie, Van Damme, Philip, Van den Bergh, Peter YK, Maertens de Noordhout, Alain, Dionne, Annie, Larue, Sandrine, Massie, Rami, Melanson, Michel, Camu, William, De Seze, Jérôme, Le Masson, Gwendal, Pouget, Jean, Schmidt, Jens, Kimiskidis, Vasilios K, Chapman, Joab, Drory, Vivian E, Fazio, Raffaella, Gallia, Francesca, Kusunoki, Susumu, Mori, Masahiro, Iijima, Masahiro, Okamoto, Tomoko, Baba, Masayuki, Faber, Catharina G, van Schaik, Ivo N, Fryze, Waldemar, Motta, Ewa, Selmaj, Krzysztof, Casasnovas, Carlos, Sola, Antonio Guerrero, Illa, Isabel, Holt, James, Miller, James AL, Lunn, Michael P, Brannagan, Thomas H, III, Brown, Martin, Kelemen, John, Iyadurai, Stanley, Rezania, Kourosh, Sharma, Khema R, Tandan, Rup, Gudesblatt, Mark, Lawson, Victoria, Amato, Anthony A, Hughes, Richard, Dalakas, Marinos C, Merkies, Ingemar, Latov, Norman, Léger, Jean-Marc, Nobile-Orazio, Eduardo, Sobue, Gen, Genge, Angela, Cornblath, David, Merschhemke, Martin, Ervin, Carolyn Marie, Agoropoulou, Catherine, and Hartung, Hans-Peter

Published
2018
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25. Idiopathic distal sensory polyneuropathy: ACTTION diagnostic criteria

Author

Freeman, Roy, Gewandter, Jennifer S., Faber, Catharina G., Gibbons, Christopher, Haroutounian, Simon, Lauria, Giuseppe, Levine, Todd, Malik, Rayaz A., Singleton, J. Robinson, Smith, A. Gordon, Bell, Josh, Dworkin, Robert H., Feldman, Eva, Herrmann, David N., Hoke, Ahmet, Kolb, Noah, Mansikka, Heikki, Oaklander, Anne Louise, Peltier, Amanda, Polydefkis, Michael, Ritt, Elissa, Russell, James W., Sainati, Stephen, Steiner, Deborah, Treister, Roi, and Üçeyler, Nurcan

Published
2020
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32. IgM Anti MAG± Peripheral Neuropathy (IMAGiNe) Study Protocol: An international, observational, prospective registry of patients with IgM M-protein Peripheral Neuropathies

Author

Hamadeh, Tatiana, van Doormaal, Perry T C, Pruppers, Mariëlle H J, van de Mortel, Johannes P M, Hoeijmakers, Janneke G J, Cornblath, David R, Vrancken, Alexander F J E, Faber, Catharina G, Notermans, Nicolette C, Marasca, Manuele, Salvalaggio, Alessandro, Briani, Chiara, and Merkies, Ingemar S J

Subjects
anti MAG antibodies, clinimetry, paraproteinemic neuropathies, IgM neuropathies, Monoclonal gammopathy of undetermined significance
Published
2023

34. Prospective Evaluation of Health Care Provider and Patient Assessments in Chemotherapy-Induced Peripheral Neurotoxicity

Author

Alberti, Paola, Bernasconi, Davide P, Cornblath, David R, Merkies, Ingemar S J, Park, Susanna B, Velasco, Roser, Bruna, Jordi, Psimaras, Dimitri, Koeppen, Susanne, Pace, Andrea, Dorsey, Susan G, Argyriou, Andreas A, Kalofonos, Haralabos P, Briani, Chiara, Schenone, Angelo, Faber, Catharina G, Mazzeo, Anna, Russo, Massimo, Grisold, Wolfgang, Valsecchi, Mariagrazia, Cavaletti, Guido, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), Alberti, P, Bernasconi, D, Cornblath, D, Jose Merkies, I, Park, S, Velasco, R, Bruna, J, Psimaras, D, Susanne, K, Pace, A, Dorsey, S, Argyriou, A, Kalofonos, H, Briani, C, Schenone, A, Faber, C, Mazzeo, A, Grisold, W, Valsecchi, M, and Cavaletti, G

Subjects
Adult, medicine.medical_specialty, Adolescent, Patients, Psychometrics, TOTAL NEUROPATHY SCORE, neuropathy, CIPN, outcome measures, TNSc, TNSn, clinical trial, PATHOGENESIS, Medizin, Diagnostic Techniques, Neurological, Nurses, Antineoplastic Agents, CHILDREN, Gynecologic oncology, Severity of Illness Index, RESPONSIVENESS, Aged, Aged, 80 and over, Humans, Middle Aged, Neoplasms, Neurotoxicity Syndromes, Peripheral Nervous System Diseases, Physicians, Prospective Studies, Young Adult, Internal medicine, 80 and over, Medicine, media_common.cataloged_instance, THALIDOMIDE, European union, VALIDITY, Prospective cohort study, media_common, business.industry, Minimal clinically important difference, Gold standard, OUTCOME MEASURES, ASSESSMENT TOOLS, Chemotherapy regimen, Clinical trial, Diagnostic Techniques, MINIMALLY IMPORTANT DIFFERENCES, Neurological, Observational study, Neurology (clinical), business
Abstract

Background and ObjectiveThere is no agreement on the gold standard for detection and grading of chemotherapy-induced peripheral neurotoxicity (CIPN) in clinical trials. The objective is to perform an observational prospective study to assess and compare patient-based and physician-based methods for detection and grading of CIPN.MethodsConsecutive patients, aged 18 years or older, candidates for neurotoxic chemotherapy, were enrolled in the United States, European Union, or Australia. A trained investigator performed physician-based scales (Total Neuropathy Score–clinical [TNSc], used to calculate Total Neuropathy Score–nurse [TNSn]) and supervised the patient-completed questionnaire (Functional Assessment of Cancer Treatment/Gynecologic Oncology Group–Neurotoxicity [FACT/GOG-NTX]). Evaluations were performed before and at the end of chemotherapy. On participants without neuropathy at baseline, we assessed the association between TNSc, TNSn, and FACT/GOG-NTX. Considering a previously established minimal clinically important difference (MCID) for FACT/GOG-NTX, we identified participants with and without a clinically important deterioration according to this scale. Then, we calculated the MCID for TNSc and TNSn as the difference in the mean change score of these scales between the 2 groups.ResultsData from 254 participants were available: 180 (71%) had normal neurologic status at baseline. At the end of the study, 88% of participants developed any grade of neuropathy. TNSc, TNSn, and FACT/GOG-NTX showed good responsiveness (standardized mean change from baseline to end of chemotherapy >1 for all scales). On the 153 participants without neuropathy at baseline and treated with a known neurotoxic chemotherapy regimen, we verified a moderate correlation in both TNSc and TNSn scores with FACT/GOG-NTX (Spearman correlation index r = 0.6). On the same sample, considering as clinically important a change in the FACT/GOG-NTX score of at least 3.3 points, the MCID was 3.7 for TNSc and 2.8 for the TNSn.ConclusionsMCID for TNSc and TNSn were calculated and the TNSn can be considered a reliable alternative objective clinical assessment if a more extended neurologic examination is not possible. The FACT/GOG-NTX score can be reduced to 7 items and these items correlate well with the TNSc and TNSn.Classification of EvidenceThis study provides Class III evidence that a patient-completed questionnaire and nurse-assessed scale correlate with a physician-assessed scale.

Published
2021

37. Acceptability, usability and feasibility of experienced sampling method in chronic secondary pain syndromes.

Author

Damci, Aysun, Hoeijmakers, Janneke G. J., den Hollande, Marlies, Köke, Albère, de Mooij, Marion, Faber, Catharina G., and Verbunt, Jeanine A. M. C. F.

Subjects
CHRONIC pain, SAMPLING methods, SYNDROMES, MUSCULOSKELETAL pain, SOCIAL contact
Abstract

Background: In chronic pain syndromes, symptoms can fluctuate and change over time. Standard questionnaires cannot register these fluctuations. Nonetheless, the experience sampling method (ESM) is developed to collect momentary measurements of everyday complaints, tracing fluctuations in symptoms and disabling factors over time. Although valuable information can be collected in this way, assessment may also be a burden. This study aimed to investigate the acceptability, usability, and feasibility of ESM in chronic secondary pain syndromes, in a single-center study in the Netherlands. Methods: A prospective observational study with repeated measurements was conducted in patients with chronic secondary neuropathic and musculoskeletal pain syndromes, including small fiber neuropathy, spinal cord injury, and rheumatoid disorder. Results: Thirty-four participants were included and filled in the ESM, of whom 19 were diagnosed with small fiber neuropathy, 11 with spinal cord injury, and 4 with a rheumatoid disorder. The mean age was 54.7 ± 13.9 years (range: 23-77) of whom 52.9% were female. In total, 19 participants filled in the general and user-friendliness evaluation about the acceptability and usability of the ESM. The general evaluation showed no influence of ESM on participants' social contacts (mean 1.47, SD 1.12), activities (mean 1.74, SD 1.44), and mood (mean 1.89, SD 1.59). The answers options of ESM were a good representation of the experiences of participants (mean 4.58, SD 1.77). Regarding feasibility, the overall response rate for answering the beep signals of ESM was 44.5% in total. The missing rate per person varied from 13% to 97% with a median of 54.1%. Conclusion: The general evaluation and the user-friendliness revealed sufficient outcomes in favor of the ESM application. ESM seems a promising measurement tool to use in secondary chronic pain syndromes. [ABSTRACT FROM AUTHOR]

Published
2023
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39. Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy.

Author

Andelic, Mirna, Salvi, Erika, Marcuzzo, Stefania, Marchi, Margherita, Lombardi, Raffaella, Cartelli, Daniele, Cazzato, Daniele, Mehmeti, Elkadia, Gelemanovic, Andrea, Paolini, Matilde, Pardo, Carlotta, D'Amato, Ilaria, Hoeijmakers, Janneke G J, Dib-Hajj, Sulayman, Waxman, Stephen G, Faber, Catharina G, and Lauria, Giuseppe

Subjects
NEUROPATHY, GENE expression, EPIDERMIS, NEURALGIA, GENE targeting
Abstract

Personalized management of neuropathic pain is an unmet clinical need due to heterogeneity of the underlying aetiologies, incompletely understood pathophysiological mechanisms and limited efficacy of existing treatments. Recent studies on microRNA in pain preclinical models have begun to yield insights into pain-related mechanisms, identifying nociception-related species differences and pinpointing potential drug candidates. With the aim of bridging the translational gap towards the clinic, we generated a human pain-related integrative miRNA and mRNA molecular profile of the epidermis, the tissue hosting small nerve fibres, in a deeply phenotyped cohort of patients with sodium channel-related painful neuropathy not responding to currently available therapies. We identified four miRNAs strongly discriminating patients from healthy individuals, confirming their effect on differentially expressed gene targets driving peripheral sensory transduction, transmission, modulation and post-transcriptional modifications, with strong effects on gene targets including NEDD4. We identified a complex epidermal miRNA–mRNA network based on tissue-specific experimental data suggesting a cross-talk between epidermal cells and axons in neuropathy pain. Using immunofluorescence assay and confocal microscopy, we observed that Nav1.7 signal intensity in keratinocytes strongly inversely correlated with NEDD4 expression that was downregulated by miR-30 family, suggesting post-transcriptional fine tuning of pain-related protein expression. Our targeted molecular profiling advances the understanding of specific neuropathic pain fine signatures and may accelerate process towards personalized medicine in patients with neuropathic pain. [ABSTRACT FROM AUTHOR]

Published
2023
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40. IgM anti‐MAG± peripheral neuropathy (IMAGiNe) study protocol: An international, observational, prospective registry of patients with IgM M‐protein peripheral neuropathies.

Author

Hamadeh, Tatiana, van Doormaal, Perry T. C., Pruppers, Mariëlle H. J., van de Mortel, Johannes P. M., Hoeijmakers, Janneke G. J., Cornblath, David R., Vrancken, Alexander F. J. E., Faber, Catharina G., Notermans, Nicolette C., Merkies, Ingemar S. J., Basta, Ivana, van den Bergh, Peter Y. K., Bianco, Mariangela, Briani, Chiara, Cauquil, Cécile, Carr, Aisling S., Cutellè, Claudia, D'Sa, Shirley, Dubuisson, Nicolas, and Echaniz‐Laguna, Andoni

Subjects
AUTOANTIBODIES, STATISTICS, PERIPHERAL neuropathy, IMMUNOGLOBULINS, SCIENTIFIC observation, DEMYELINATION, MONOCLONAL gammopathies, GLYCOPROTEINS, QUESTIONNAIRES, DATA analysis, LONGITUDINAL method
Abstract

Background: International consensus on IgM ± anti‐MAG ± PNP (IgM PNP) is lacking. Despite increasing interest in clinical trials, validated disease‐specific measures are needed to adequately capture limitations and changes over time. The IMAGiNe (IgM ± anti‐myelin associated glycoprotein [MAG] peripheral neuropathy) study surges as an international collaboration to create a standardized registry of patients with IgM ± anti‐MAG PNP. The consortium, which currently consists of 11 institutions from 7 countries, presents here the IMAGiNe study design and protocol. Aims: Functional outcome measures will be constructed at the level of impairment, as well as activity and participation. We aim to describe the natural history of the cohort, the role of anti‐MAG antibodies, the presence of clinical subtypes, and potential biomarkers. Methods: The IMAGiNe study is a prospective, observational cohort study with a 3‐year follow‐up. At each assessment, researchers collect clinical data and subjects complete a list of preselected outcome measures. Among these, the "Pre‐Rasch‐built Overall Disability Scale (Pre‐RODS)" questionnaire will be submitted to Rasch analysis to assess classic and modern clinimetric requirements. Results: The final measures will include the IgM‐PNP‐specific RODS and Ataxia Rating Scale (IgM‐PNP‐ARS). Descriptions of the disease course, clinical heterogeneity, treatment regimes, variations in laboratory values, and antibody titers will help reach consensus on diagnosis and follow‐up strategies. Conclusion: The constructed interval scales will be cross‐culturally valid and suitable for use in future clinical trials and daily practice. The ultimate goals are to improve functional individualized assessment, reach international consensus, and lay the foundations for successful designs in future studies. [ABSTRACT FROM AUTHOR]

Published
2023
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42. Gain-of-function Na v 1.8 mutations in painful neuropathy

Author

Faber, Catharina G., Lauria, Giuseppe, Merkies, Ingemar S. J., Cheng, Xiaoyang, Han, Chongyang, Ahn, Hye-Sook, Persson, Anna-Karin, Hoeijmakers, Janneke G. J., Gerrits, Monique M., Pierro, Tiziana, Lombardi, Raffaella, Kapetis, Dimos, Dib-Hajj, Sulayman D., and Waxman, Stephen G.

Published
2012

43. COL6A5 variants in familial neuropathic chronic itch

Author

Martinelli-Boneschi, Filippo, Colombi, Marina, Castori, Marco, Devigili, Grazia, Eleopra, Roberto, Malik, Rayaz A., Ritelli, Marco, Zoppi, Nicoletta, Dordoni, Chiara, Sorosina, Melissa, Grammatico, Paola, Fadavi, Hassan, Gerrits, Monique M., Almomani, Rowida, Faber, Catharina G., Merkies, Ingemar S. J., Toniolo, Daniela, Cocca, Massimiliano, Doglioni, Claudio, Waxman, Stephen G., Dib-Hajj, Sulayman D., Taiana, Michela M., Sassone, Jenny, Lombardi, Raffaella, Cazzato, Daniele, Zauli, Andrea, Santoro, Silvia, Marchi, Margherita, and Lauria, Giuseppe

Published
2017
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45. Myotonic dystrophy type 1: A comparison between the adult‐ and late‐onset subtype.

Author

Joosten, Isis B.T., Horlings, Corinne G. C., Vosse, Bettine A. H., Wagner, Anouk, Bovenkerk, David S. H., Evertz, Reinder, Vernooy, Kevin, van Engelen, Baziel G. M., and Faber, Catharina G.

Abstract

Introduction/Aims: Although the extent of muscle weakness and organ complications has not been well studied in patients with late‐onset myotonic dystrophy type 1 (DM1), adult‐onset DM1 is associated with severe muscle involvement and possible life‐threatening cardiac and respiratory complications. In this study we aimed to compare the clinical phenotype of adult‐onset vs late‐onset DM1, focusing on the prevalence of cardiac, respiratory, and muscular involvement. Methods: Data were prospectively collected in the Dutch DM1 registry. Results: Two hundred seventy‐five adult‐onset and 66 late‐onset DM1 patients were included. Conduction delay on electrocardiogram was present in 123 of 275 (45%) adult‐onset patients, compared with 24 of 66 (36%) late‐onset patients (P =.218). DM1 subtype did not predict presence of conduction delay (odds ratio [OR] 0.706; confidence interval [CI] 0.405 to 1.230, P =.219). Subtype did predict indication for noninvasive ventilation (NIV) (late onset vs adult onset: OR, 0.254; CI, 0.104 to 0.617; P =.002) and 17% of late‐onset patients required NIV compared with 40% of adult‐onset patients. Muscular Impairment Rating Scale (MIRS) scores were significantly different between subtypes (MIRS 1 to 3 in 66% of adult onset vs 100% of late onset [P <.001]), as were DM1‐activC scores (67 ± 21 in adult onset vs 87 ± 15 in late onset; P <.001). Discussion: Although muscular phenotype was milder in late‐onset compared with adult‐onset DM1, the prevalence of conduction delay was comparable. Moreover, subtype was unable to predict the presence of cardiac conduction delay. Although adult‐onset patients had an increased risk of having an NIV indication, 17% of late‐onset patients required NIV. Despite different muscular phenotypes, screening for multiorgan involvement should be equally thorough in late‐onset as in adult‐onset DM1. [ABSTRACT FROM AUTHOR]

Published
2023
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