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- Wiessner, M., et al.
(författare)
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
- 2021
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Ingår i: Brain : a journal of neurology. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 144:5, s. 1422-1434
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Tidskriftsartikel (refereegranskat)abstract
- Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays. © 2021 The Author(s).
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- Nijs, Jo, et al.
(författare)
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Nociplastic Pain Criteria or Recognition of Central Sensitization? Pain Phenotyping in the Past, Present and Future
- 2021
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Ingår i: Journal of Clinical Medicine. - : MDPI AG. - 2077-0383. ; 10:15
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Tidskriftsartikel (refereegranskat)abstract
- Recently, the International Association for the Study of Pain (IASP) released clinical criteria and a grading system for nociplastic pain affecting the musculoskeletal system. These criteria replaced the 2014 clinical criteria for predominant central sensitization (CS) pain and accounted for clinicians' need to identify (early) and correctly classify patients having chronic pain according to the pain phenotype. Still, clinicians and researchers can become confused by the multitude of terms and the variety of clinical criteria available. Therefore, this paper aims at (1) providing an overview of what preceded the IASP criteria for nociplastic pain ('the past'); (2) explaining the new IASP criteria for nociplastic pain in comparison with the 2014 clinical criteria for predominant CS pain ('the present'); and (3) highlighting key areas for future implementation and research work in this area ('the future'). It is explained that the 2021 IASP clinical criteria for nociplastic pain are in line with the 2014 clinical criteria for predominant CS pain but are more robust, comprehensive, better developed and hold more potential. Therefore, the 2021 IASP clinical criteria for nociplastic pain are important steps towards precision pain medicine, yet studies examining the clinimetric and psychometric properties of the criteria are urgently needed.
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| 7. |
- Nijs, Jo, et al.
(författare)
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Towards precision pain medicine for pain after cancer: the Cancer Pain Phenotyping Network multidisciplinary international guidelines for pain phenotyping using nociplastic pain criteria
- 2023
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Ingår i: British Journal of Anaesthesia. - : Elsevier BV. - 0007-0912. ; 130:5, s. 611-621
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Tidskriftsartikel (refereegranskat)abstract
- Pain after cancer remains underestimated and undertreated. Precision medicine is a recent concept that refers to the ability to classify patients into subgroups that differ in their susceptibility to, biology, or prognosis of a particular disease, or in their response to a specific treatment, and thus to tailor treatment to the individual patient characteristics. Applying this to pain after cancer, the ability to classify post-cancer pain into the three major pain phenotypes (i.e. nociceptive, neuropathic, and nociplastic pain) and tailor pain treatment accordingly, is an emerging issue. This is especially relevant because available evidence suggests that nociplastic pain is present in an important subgroup of those patients experiencing post-cancer pain. The 2021 International Association for the Study of Pain (IASP) clinical criteria and grading system for nociplastic pain account for the need to identify and correctly classify patients according to the pain phenotype early in their treatment. These criteria are an important step towards precision pain medicine with great potential for the field of clinical oncology. Within this framework, the Cancer Pain Phenotyping (CANPPHE) Network, an international and interdisciplinary group of oncology clinicians and researchers from seven countries, applied the 2021 IASP clinical criteria for nociplastic pain to the growing population of those experiencing post-cancer pain. A manual is provided to allow clinicians to differentiate between predominant nociceptive, neuropathic, or nociplastic pain after cancer. A seven-step diagnostic approach is presented and illustrated using cases to enhance understanding and encourage effective implementation of this approach in clinical practice.
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| 8. |
- Bilterys, T., et al.
(författare)
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Relationship, differences, and agreement between objective and subjective sleep measures in chronic spinal pain patients with comorbid insomnia: a cross-sectional study
- 2023
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Ingår i: Pain. - 0304-3959. ; 164:9, s. 2016-2028
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Tidskriftsartikel (refereegranskat)abstract
- Sleep disturbances are one of the most frequent reported problems in people with nonspecific chronic spinal pain (nCSP) and presents an additional treatment challenge. Interventions targeting sleep problems are mainly based on subjective sleep complaints and do not take objective sleep into consideration. The aim of this cross-sectional study was to evaluate the relationship and conformity between self-reported and objectively measured sleep parameters (ie, questionnaire vs polysomnography and actigraphy). The baseline data of 123 people with nCSP and comorbid insomnia who are participating in a randomized controlled trial were analyzed. Pearson correlations were used to investigate the relationship between objective and subjective sleep parameters. Differences between objective and subjective sleep parameters were analyzed using t tests. Bland-Altman analyses were performed to quantify and visualize agreement between the different measurement methods. Except for the significant moderate correlation between perceived time in bed (TIB) and actigraphic TIB (r = 0.667, P < 0.001), all other associations between subjective and objective measures were rather weak (r < 0.400). Participants underestimated their total sleep time (TST) (mean difference [MD] = -52.37 [-67.94, -36.81], P < 0.001) and overestimated sleep onset latency (SOL) (MD = 13.76 [8.33, 19.20], P < 0.001) in general. The results of this study suggest a discrepancy (differences and lack of agreement) between subjective and objective sleep parameters in people with nCSP and comorbid insomnia. No or weak associations were found between self-reported sleep and objectively measured sleep. Findings suggest that people with nCSP and comorbid insomnia tend to underestimate TST and overestimate SOL. Future studies are necessary to confirm our results.
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- De Baets, L., et al.
(författare)
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The interplay between symptoms of insomnia and pain in people with osteoarthritis: A narrative review of the current evidence
- 2023
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Ingår i: Sleep Medicine Reviews. - 1087-0792. ; 70
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Forskningsöversikt (refereegranskat)abstract
- Osteoarthritis (OA) is a leading cause of disability worldwide and clinical pain is the major symptom of OA. This clinical OA-related pain is firmly associated with symptoms of insomnia, which are reported in up to 81% of people with OA. Since understanding the association between both symptoms is critical for their appropriate management, this narrative review synthesizes the existing evidence in people with OA on i) the mechanisms underlying the association between insomnia symptoms and clinical OA-related pain, and ii) the effectiveness of conservative non-pharmacological treatments on insomnia symptoms and clinical OA-related pain. The evidence available identifies depressive symptoms, pain catastrophizing and pain self-efficacy as mechanisms partially explaining the cross-sectional association between insomnia symptoms and pain in people with OA. Furthermore, in comparison to treatments without a specific insomnia intervention, the ones including an insomnia intervention appear more effective for improving insomnia symptoms, but not for reducing clinical OA-related pain. However, at a withinperson level, treatment-related positive effects on insomnia symptoms are associated with a longterm pain reduction. Future longitudinal prospective studies offering fundamental insights into neurobiological and psychosocial mechanisms explaining the association between insomnia symptoms and clinical OA-related pain will enable the development of effective treatments targeting both symptoms.
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| 10. |
- Runge, N., et al.
(författare)
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The effectiveness of exercise and physical activity programs on fatigue and sleep in people with arthritis - A systematic review with meta-analysis
- 2023
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Ingår i: SLEEP MEDICINE REVIEWS. - 1087-0792 .- 1532-2955. ; 71
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Tidskriftsartikel (refereegranskat)abstract
- This systematic review aimed to systematically investigate the literature on the effectiveness of exercise and physical activity programs on fatigue and sleep in people with arthritis. For that, seven databases were searched for relevant randomized controlled trials. After the searches, 36 studies investigating 2281 participants were included. Risk of bias assessments were done by two independent reviewers using the Cochrane Risk of Bias tool 2. Random-effects meta-analyses were performed, and the Grading of Recommendations Assessment, Development and Evaluation framework was used to judge the certainty of evidence. The evidence on benefits of exercise and physical activity programs on fatigue and sleep parameters in people with osteoarthritis and psoriatic arthritis was either lacking or inconclusive. There was very low to low certainty evidence for a slight benefit of exercise and physical activity programs on fatigue at short-term in people with ankylosing spondylitis and rheumatoid arthritis. However, the evidence was very uncertain for the medium- and long-term as well as for any sleep parameters. The results indicate that exercise and physical activity programs may offer some benefits on fatigue for people with arthritis in the short-term, although the best type of exercise remains uncertain. The available evidence on improvements in sleep was insufficient to draw strong conclusions.
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