| 1. |
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| 2. |
- 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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| 6. |
- 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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| 9. |
- 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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| 11. |
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| 12. |
- Van de Velde, D, et al.
(författare)
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Measuring participation as defined by the World Health Organization in the International Classification of Functioning, Disability and Health. Psychometric properties of the Ghent Participation Scale
- 2017
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Ingår i: Clinical rehabilitation. - : SAGE Publications. - 1477-0873 .- 0269-2155. ; 31:3, s. 379-393
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Tidskriftsartikel (refereegranskat)abstract
- To examine the internal consistency, test–retest reliability, construct validity, discriminant validity and responsiveness of the Ghent Participation Scale. Design: Cross-sectional study with a test–retest sample. Setting: Six outpatient rehabilitation centres in Belgium. Subjects: A total of 365 outpatients from eight diagnostic groups. Measures: The Ghent Participation Scale, the Impact on Participation and Autonomy, the Utrecht Scale for Evaluation of Rehabilitation-Participation and the Medical outcome study Short Form SF-36. Results: The Ghent Participation Scale was found to have good internal consistency (Cronbach’s α between 0.75 and 0.83). At item level, the test–retest reliability was good; weighted kappas ranged between 0.57 and 0.88. On the dimension level intraclass correlation coefficients ranged between 0.80 and 0.90. Evidence for construct validity came from high correlations between the subscales of the Ghent Participation Scale and four subscales of the Impact on Participation and Autonomy (range, r = −0.71 to −0.87) and two subscales of the Utrecht Scale for Evaluation of Rehabilitation-Participation (range, r = 0.54 to 0.72). Standardized response mean ranged between 0.23 and 0.68 and the area under the curve ranged between 68% and 88%. Conclusion: The Ghent Participation Scale appears to be a valid and reliable method of assessing participation irrespective of the respondent’s health condition. The Ghent Participation Scale is responsive and is able to detect changes over time.
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| 13. |
- Van Looveren, E., et al.
(författare)
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The Association between Sleep and Chronic Spinal Pain: A Systematic Review from the Last Decade
- 2021
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Ingår i: Journal of Clinical Medicine. - : MDPI AG. - 2077-0383. ; 10:17
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Tidskriftsartikel (refereegranskat)abstract
- Chronic spinal pain, including both neck and low back pain, is a common disabling disorder in which sleep problems are frequently reported as a comorbidity. The complex processes of both sleep and chronic pain seem to have overlapping mechanisms, which may explain their often established bidirectional relationship. This systematic review aims to investigate the assumed association between sleep and chronic spinal pain by providing an overview of the literature from the last decade. Eligible studies were obtained by searching four databases (PubMed, Embase, Web of Science, and PsycARTICLES). Articles were found relevant if they included a human adult population and investigated the possible association between sleep parameters and chronic spinal pain. Only studies published after January 2009 were included, as this review aimed to provide an update of a previous literature overview on this topic. The quality of the studies was assessed by risk of bias and level of evidence. A total of twenty-seven studies (6 cohort, 5 case-control, and 16 cross-sectional studies) were included in this systematic review. The methodological quality of these studies was low to moderate. The majority of studies reported weak to moderate evidence for an association between sleep parameters and chronic spinal pain, with more severe pain accompanied by more disturbed sleep. Addressing frequently reported sleep problems in chronic spinal pain patients therefore appears to be a necessary complement to pain management to achieve optimal treatment outcomes.
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| 14. |
- Burgunder, J-M, et al.
(författare)
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EFNS guidelines for the molecular diagnosis of neurogenetic disorders : motoneuron, peripheral nerve and muscle disorders
- 2011
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Ingår i: European Journal of Neurology. - : Wiley-Blackwell. - 1351-5101 .- 1468-1331. ; 18:2, s. 207-E20
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: These EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work-up is indicated. Search strategy: To collect data about planning, conditions and performance of molecular diagnosis of these disorders, a literature search in various electronic databases was carried out and original papers, meta-analyses, review papers and guideline recommendations reviewed. Results: The best level of evidence for genetic testing recommendation (B) can be found for the disorders with specific presentations, including familial amyotrophic lateral sclerosis, spinal and bulbar muscular atrophy, Charcot-Marie-Tooth 1A, myotonic dystrophy and Duchenne muscular dystrophy. For a number of less common disorders, a precise description of the phenotype, including the use of immunologic methods in the case of myopathies, is considered as good clinical practice to guide molecular genetic testing. Conclusion: These guidelines are provisional and the future availability of molecular-genetic epidemiological data about the neurogenetic disorders under discussion in this article will allow improved recommendation with an increased level of evidence.
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| 15. |
- Burgunder, J-M., et al.
(författare)
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Molecular diagnosis of neurogenetic disorders : motoneuron, peripheral nerve and muscle disorders
- 2012. - 2
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Ingår i: European handbook of neurological management. - Oxford, UK : Wiley-Blackwell. - 9781444346268 - 9781405185349 ; , s. 97-109
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Bokkapitel (refereegranskat)abstract
- Objectives: The EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work-up is indicated.Search strategy: To collect data about the planning, conditions and performance of molecular diagnosis of these disorders, a literature search in various electronic databases was carried out and original papers, meta-analyses, review papers and guideline recommendations reviewed.Results: The best level of evidence for genetic testing recommendation (Level B) can be found for the disorders with specific presentations, including familial ALS, spinal and bulbar muscular atrophy, Charcot-Marie-Tooth 1A, myotonic dystrophy and Duchenne muscular dystrophy. For a number of less common disorders a precise description of the phenotype, including the use of immunological methods in the case of myopathies, is considered good clinical practice to guide molecular genetic testing.Conclusion: These guidelines are provisional and the availability of molecular-genetic epidemiological data in the future about the neurogenetic disorders under discussion in the present paper will allow improved recommendation with an increased level of evidence.
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| 18. |
- Claes, Filip, et al.
(författare)
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Exposure of a cryptic Hsp70 binding site determines the cytotoxicity of the ALS-associated SOD1-mutant A4V
- 2019
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Ingår i: Protein Engineering Design & Selection. - : Oxford University Press (OUP). - 1741-0126 .- 1741-0134. ; 32:10, s. 443-457
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Tidskriftsartikel (refereegranskat)abstract
- The accumulation of toxic protein aggregates is thought to play a key role in a range of degenerative pathologies, but it remains unclear why aggregation of polypeptides into non-native assemblies is toxic and why cellular clearance pathways offer ineffective protection. We here study the A4V mutant of SOD1, which forms toxic aggregates in motor neurons of patients with familial amyotrophic lateral sclerosis (ALS). A comparison of the location of aggregation prone regions (APRs) and Hsp70 binding sites in the denatured state of SOD1 reveals that ALS-associated mutations promote exposure of the APRs more than the strongest Hsc/Hsp70 binding site that we could detect. Mutations designed to increase the exposure of this Hsp70 interaction site in the denatured state promote aggregation but also display an increased interaction with Hsp70 chaperones. Depending on the cell type, in vitro this resulted in cellular inclusion body formation or increased clearance, accompanied with a suppression of cytotoxicity. The latter was also observed in a zebrafish model in vivo. Our results suggest that the uncontrolled accumulation of toxic SOD1(A4V) aggregates results from insufficient detection by the cellular surveillance network.
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| 19. |
- Donkervoort, S., et al.
(författare)
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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
- 2020
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 107:6, s. 1078-1095
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Tidskriftsartikel (refereegranskat)abstract
- The myosin-directed chaperone UNC-45B is essential for sarcomeric organization and muscle function from Caenorhabditis elegans to humans. The pathological impact of UNC-45B in muscle disease remained elusive. We report ten individuals with bi-allelic variants in UNC45B who exhibit childhood-onset progressive muscle weakness. We identified a common UNC45B variant that acts as a complex hypomorph splice variant. Purified UNC-45B mutants showed changes in folding and solubility. In situ localization studies further demonstrated reduced expression of mutant UNC-45B in muscle combined with abnormal localization away from the A-band towards the Z-disk of the sarcomere. The physiological relevance of these observations was investigated in C. elegans by transgenic expression of conserved UNC-45 missense variants, which showed impaired myosin binding for one and defective muscle function for three. Together, our results demonstrate that UNC-45B impairment manifests as a chaperonopathy with progressive muscle pathology, which discovers the previously unknown conserved role of UNC-45B in myofibrillar organization.
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| 20. |
- Gutke, Annelie, et al.
(författare)
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Lifestyle and Chronic Pain in the Pelvis: State of the Art and Future Directions
- 2021
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Ingår i: Journal of Clinical Medicine. - : MDPI AG. - 2077-0383. ; 10:22
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Tidskriftsartikel (refereegranskat)abstract
- During their lifespan, many women are exposed to pain in the pelvis in relation to menstruation and pregnancy. Such pelvic pain is often considered normal and inherently linked to being a woman, which in turn leads to insufficiently offered treatment for treatable aspects related to their pain experience. Nonetheless, severe dysmenorrhea (pain during menstruation) as seen in endometriosis and pregnancy-related pelvic girdle pain, have a high impact on daily activities, school attendance and work ability. In the context of any type of chronic pain, accumulating evidence shows that an unhealthy lifestyle is associated with pain development and pain severity. Furthermore, unhealthy lifestyle habits are a suggested perpetuating factor of chronic pain. This is of specific relevance during lifespan, since a low physical activity level, poor sleep, or periods of (di)stress are all common in challenging periods of women's lives (e.g., during menstruation, during pregnancy, in the postpartum period). This state-of-the-art paper aims to review the role of lifestyle factors on pain in the pelvis, and the added value of a lifestyle intervention on pain in women with pelvic pain. Based on the current evidence, the benefits of physical activity and exercise for women with pain in the pelvis are supported to some extent. The available evidence on lifestyle factors such as sleep, (di)stress, diet, and tobacco/alcohol use is, however, inconclusive. Very few studies are available, and the studies which are available are of general low quality. Since the role of lifestyle on the development and maintenance of pain in the pelvis, and the value of lifestyle interventions for women with pain in the pelvis are currently poorly studied, a research agenda is presented. There are a number of rationales to study the effect of promoting a healthy lifestyle (early) in a woman's life with regard to the prevention and management of pain in the pelvis. Indeed, lifestyle interventions might have, amongst others, anti-inflammatory, stress-reducing and/or sleep-improving effects, which might positively affect the experience of pain. Research to disentangle the relationship between lifestyle factors, such as physical activity level, sleep, diet, smoking, and psychological distress, and the experience of pain in the pelvis is, therefore, needed. Studies which address the development of management strategies for adapting lifestyles that are specifically tailored to women with pain in the pelvis, and as such take hormonal status, life events and context, into account, are required. Towards clinicians, we suggest making use of the window of opportunity to prevent a potential transition from localized or periodic pain in the pelvis (e.g., dysmenorrhea or pain during pregnancy and after delivery) towards persistent chronic pain, by promoting a healthy lifestyle and applying appropriate pain management.
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