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Long COVID among healthcare workers: a narrative review of definitions, prevalence, symptoms, risk factors and impacts. 医护人员中的长期 COVID:关于定义、流行率、症状、风险因素和影响的叙述性综述。
IF 6.7 2区 医学
British medical bulletin Pub Date : 2024-09-27 DOI: 10.1093/bmb/ldae008
Brendan Dempsey, Ira Madan, Sharon A M Stevelink, Danielle Lamb
{"title":"Long COVID among healthcare workers: a narrative review of definitions, prevalence, symptoms, risk factors and impacts.","authors":"Brendan Dempsey, Ira Madan, Sharon A M Stevelink, Danielle Lamb","doi":"10.1093/bmb/ldae008","DOIUrl":"10.1093/bmb/ldae008","url":null,"abstract":"<p><strong>Introduction: </strong>Long COVID (LC) occurs when people experience symptoms for weeks, months or even years after a COVID-19 infection. This review looks at research exploring the LC definitions, prevalence, symptoms, risk factors, and associated impacts in research on healthcare workers (HCWs).</p><p><strong>Data sources: </strong>We systematically searched five electronic databases (CINAHL, EMBASE, Medline, PsycInfo and PubMed) and compiled a narrative literature review based on 56 relevant studies.</p><p><strong>Areas of agreement: </strong>LC is prevalent among HCWs who become infected by COVID-19. Many of the most frequent symptoms associated with LC in the general population are also reported among HCWs. Some risk factors for LC are also similar to those in the general population, such as female sex, older age, and having a pre-existing respiratory illness.</p><p><strong>Areas of controversy: </strong>The mechanism(s) responsible for LC remains unknown. A variety of terms, timeframes and symptoms are used to define LC, creating difficulties in comparing results across studies. Much of the research is cross-sectional and fails to explore the impacts that prolonged symptoms have on HCWs' personal and professional lives.</p><p><strong>Growing points: </strong>The need to support HCWs with LC is clear. Identifying the mechanism(s) responsible for LC is a key priority, as this will inform treatments.</p><p><strong>Areas for developing research: </strong>Future research should move towards a standard definition for LC. Greater attention should be paid to longitudinal and qualitative studies, which could give insights into prognosis, lived experience and work participation. Finally, studies evaluating treatments suitable for people with LC are timely.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":" ","pages":"16-35"},"PeriodicalIF":6.7,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11436955/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142054942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pharmacological management of secondary chronic spinal cord injury: a systematic review. 继发性慢性脊髓损伤的药物治疗:系统综述。
IF 6.7 2区 医学
British medical bulletin Pub Date : 2024-09-27 DOI: 10.1093/bmb/ldae009
Filippo Migliorini, Federico Cocconi, Luise Schäfer, Francesco Simeone, Madhan Jeyaraman, Nicola Maffulli
{"title":"Pharmacological management of secondary chronic spinal cord injury: a systematic review.","authors":"Filippo Migliorini, Federico Cocconi, Luise Schäfer, Francesco Simeone, Madhan Jeyaraman, Nicola Maffulli","doi":"10.1093/bmb/ldae009","DOIUrl":"10.1093/bmb/ldae009","url":null,"abstract":"<p><strong>Introduction: </strong>Spinal cord injury (SCI) may bring lifelong consequences for affected patients and a high financial burden to the health care system.</p><p><strong>Source of data: </strong>Published peer-reviewed scientific articles identified from EMBASE, Google Scholar, PubMed and Scopus.</p><p><strong>Areas of agreement: </strong>Surgery and blood pressure management are the main targets in acute SCI to avoid secondary damage.</p><p><strong>Areas of controversy: </strong>The management of secondary chronic SCI is challenging, with unpredictable outcomes.</p><p><strong>Growing points: </strong>Given the lack of consensus on pharmacological therapy for acute and secondary chronic SCI, the present study analyses the currently available drugs and treatment options to manage secondary chronic SCI.</p><p><strong>Areas timely for developing research: </strong>Different approaches exist for the pharmacological management of secondary chronic SCI. One of the most investigated drugs, 4-aminopyridine, improves central motor conduction and shows improvement in neurological signs. Positive results in different areas have been observed in patients receiving the anti-spastic drugs tizanidine and baclofen or Granulocyte colony-stimulating factor. Growth hormone showed only minimal or no significant effects, and the therapy of secondary chronic SCI with riluzole has been poorly researched to date.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":" ","pages":"49-68"},"PeriodicalIF":6.7,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142119024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tribute to Norman Vetter. 向诺曼-维特致敬
IF 6.7 2区 医学
British medical bulletin Pub Date : 2024-09-27 DOI: 10.1093/bmb/ldae013
Nicola Maffulli
{"title":"Tribute to Norman Vetter.","authors":"Nicola Maffulli","doi":"10.1093/bmb/ldae013","DOIUrl":"https://doi.org/10.1093/bmb/ldae013","url":null,"abstract":"","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"151 1","pages":"1"},"PeriodicalIF":6.7,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The effectiveness of digital interventions for self-management of chronic pain in employment settings: a systematic review. 就业环境中自我管理慢性疼痛的数字干预措施的有效性:系统综述。
IF 6.7 2区 医学
British medical bulletin Pub Date : 2024-09-27 DOI: 10.1093/bmb/ldae007
Holly Blake, Wendy J Chaplin, Alisha Gupta
{"title":"The effectiveness of digital interventions for self-management of chronic pain in employment settings: a systematic review.","authors":"Holly Blake, Wendy J Chaplin, Alisha Gupta","doi":"10.1093/bmb/ldae007","DOIUrl":"10.1093/bmb/ldae007","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic pain affects over a quarter of the workforce with high economic burden for individuals, employers and healthcare services. Access to work-related advice for people with chronic pain is variable. This systematic review aims to explore the effectiveness of workplace-delivered digital interventions for the self-management of chronic pain.</p><p><strong>Source of data: </strong>MEDLINE, EMBASE, CINAHL, PsycINFO, the Cochrane Library, JBI, Open Science Framework, Epistemonikos and Google Scholar. Articles published between January 2001 and December 2023 were included. Searches were conducted between October 2023 and December 2023.</p><p><strong>Areas of agreement: </strong>Workplace-delivered digital interventions to support self-management of chronic pain at work may improve pain and health-related quality of life in vocationally active adults. Delivering interventions outside of clinical services, through the workplace setting, may help to reduce inequity in access to work-related advice for people with chronic pain, and ultimately reduce the burden on individuals, employers and healthcare services. Interventions include mobile apps and web-based programmes.</p><p><strong>Areas of controversy: </strong>Studies were moderate-to-low quality. Most studies focused on exercise, few considered other aspects of pain self-management. Given the limited evidence in the current literature, consensus on best intervention format and delivery is lacking.</p><p><strong>Growing points: </strong>More high-quality studies are needed given the heterogeneity in study design, interventions and outcome measures.</p><p><strong>Areas timely for developing research: </strong>No interventions included advice on work-related adjustments or support. Few studies included work-related outcomes, despite the known impact of pain on work and work on health.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":" ","pages":"36-48"},"PeriodicalIF":6.7,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11436954/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141554187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mind the implementation gap: a systems analysis of the NHS Long Term Workforce Plan to increase the number of doctors trained in the UK raises many questions. 注意实施差距:对英国国家医疗服务系统(NHS)旨在增加在英国培训的医生数量的长期劳动力计划进行系统分析,提出了许多问题。
IF 6.7 2区 医学
British medical bulletin Pub Date : 2024-06-10 DOI: 10.1093/bmb/ldae002
Una Geary, Martin McKee, Katie Petty-Saphon
{"title":"Mind the implementation gap: a systems analysis of the NHS Long Term Workforce Plan to increase the number of doctors trained in the UK raises many questions.","authors":"Una Geary, Martin McKee, Katie Petty-Saphon","doi":"10.1093/bmb/ldae002","DOIUrl":"10.1093/bmb/ldae002","url":null,"abstract":"<p><strong>Background: </strong>The National Health Service (NHS) in England is facing a workforce crisis. A new Long Term Workforce Plan (LTWP) seeks to address this, setting out ambitious proposals to expand and reform domestic medical education and training in England. However, there are concerns about their feasibility.</p><p><strong>Sources of data: </strong>In September 2023, over 60 individuals representing medical education and training in the UK participated in an exercise run by UK Medical Schools Council by using systems theory to identify risks.</p><p><strong>Areas of agreement: </strong>The UK does need more 'home grown' doctors, but the LTWP has important gaps, including lack of attention to postgraduate training, absence of reference to the need for more educators and capital investment and risk of inadequate clinical placement capacity, particularly in primary care settings.</p><p><strong>Areas of controversy: </strong>There are unresolved differences in the understanding of a proposed medical apprenticeship model and no scheme has, as yet, been approved by the General Medical Council. Participants were unable to determine who the beneficiaries of this scheme will be (apart from the apprentices themselves).</p><p><strong>Growing points: </strong>While the LTWP represents a welcome, although overdue, commitment to address the NHS workforce crisis, we identified significant gaps that must be resolved.</p><p><strong>Areas timely for developing research: </strong>First, the development of the LTWP provides a case study that adds to literature on policymaking in the UK. Second, while we only examined the expansion of medical training, the method could be applied to other parts of the LTWP. Third, a prospective evaluation of its implementation is necessary.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":" ","pages":"1-10"},"PeriodicalIF":6.7,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11180547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139717310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The development of inherited cardiac conditions services: current position and future perspectives. 遗传性心脏病服务的发展:现状与未来展望。
IF 6.7 2区 医学
British medical bulletin Pub Date : 2024-06-10 DOI: 10.1093/bmb/ldae003
Thomas Alway, Rachel Bastiaenen, Antonis Pantazis, Leema Robert, Rhoda Akilapa, John Whitaker, Stephen P Page, Gerald Carr-White
{"title":"The development of inherited cardiac conditions services: current position and future perspectives.","authors":"Thomas Alway, Rachel Bastiaenen, Antonis Pantazis, Leema Robert, Rhoda Akilapa, John Whitaker, Stephen P Page, Gerald Carr-White","doi":"10.1093/bmb/ldae003","DOIUrl":"10.1093/bmb/ldae003","url":null,"abstract":"<p><strong>Background: </strong>Over the last two decades, inherited cardiac conditions (ICC) centres have emerged with the aim of improving outcomes for patients and their families, through early diagnosis, genetic testing, risk assessment and specialist treatment.</p><p><strong>Sources of data: </strong>A literature search was performed using PubMed (https://pubmed.ncbi.nlm.nih.gov/). Commissioned ICC service reviews from NHS England, NHS Improvement and PHG Foundation were evaluated.</p><p><strong>Areas of agreement: </strong>ICC patient management requires a multi-disciplinary approach. ICC services are predominantly based within tertiary centres. Despite expansion, provision of care remains inadequate to meet rising demands. Access to services is inconsistent, partly due to geographic variation and lack of standardized pathways.</p><p><strong>Areas of controversy: </strong>The optimal ICC care model remains undecided, although there is growing interest in 'hub-and-spoke' networks, which could aid secondary and tertiary service integration and repatriation of care.</p><p><strong>Growing points: </strong>Genetic mainstreaming is a priority for the Genomic Medicine Service Alliance. The benefits of telehealth and virtual clinics have been validated by their use during the COVID-19 pandemic. Other innovations to improve resource efficiency, such as clinical scientist-led and nurse-led clinics, show promise.</p><p><strong>Areas timely for developing research: </strong>An update for the NHS ICC service specifications is planned that appears well timed given the rapid evolution of the ICC landscape in the decade since last review. This has the potential to address needs including national audit, standardized pathways and ICC networks to improve governance and equity of care. Delegation of commissioning for specialist services to integrated care systems may also provide opportunity for increased regional direction.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":" ","pages":"11-22"},"PeriodicalIF":6.7,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139943870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The role of cultural competency training to address health disparities in surgical settings. 文化能力培训在解决外科手术环境中的健康差异方面的作用。
IF 6.7 2区 医学
British medical bulletin Pub Date : 2024-06-10 DOI: 10.1093/bmb/ldae005
Roberto Mora, Mervyn Maze
{"title":"The role of cultural competency training to address health disparities in surgical settings.","authors":"Roberto Mora, Mervyn Maze","doi":"10.1093/bmb/ldae005","DOIUrl":"10.1093/bmb/ldae005","url":null,"abstract":"<p><strong>Background: </strong>Disparities in health care delivered to marginalized groups are unjust and result in poor health outcomes that increase the cost of care for everyone. These disparities are largely avoidable and health care providers, have been targeted with education and specialised training to address these disparities.</p><p><strong>Sources of data: </strong>In this manuscript we have sought out both peer-reviewed material on Pubmed, as well as policy statements on the potential role of cultural competency training (CCT) for providers in the surgical care setting. The goal of undertaking this work was to determine whether there is evidence that these endeavours are effective at reducing disparities.</p><p><strong>Areas of agreement: </strong>The unjustness of health care disparities is universally accepted.</p><p><strong>Areas of controversy: </strong>Whether the outcome of CCT justifies the cost has not been effectively answered.</p><p><strong>Growing points: </strong>These include the structure/content of the CCT and whether the training should be delivered to teams in the surgical setting.</p><p><strong>Areas timely for developing research: </strong>Because health outcomes are affected by many different inputs, should the effectiveness of CCT be improvement in health outcomes or should we use a proxy or a surrogate of health outcomes.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":" ","pages":"42-59"},"PeriodicalIF":6.7,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140093476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Disclosing non-visible disabilities in educational workplaces: a scoping review. 在教育工作场所披露非可视残疾:范围界定审查。
IF 6.7 2区 医学
British medical bulletin Pub Date : 2024-06-10 DOI: 10.1093/bmb/ldae004
Juliet Hassard, Mehmet Yildrim, Louise Thomson, Holly Blake
{"title":"Disclosing non-visible disabilities in educational workplaces: a scoping review.","authors":"Juliet Hassard, Mehmet Yildrim, Louise Thomson, Holly Blake","doi":"10.1093/bmb/ldae004","DOIUrl":"10.1093/bmb/ldae004","url":null,"abstract":"<p><strong>Introduction: </strong>a sizable proportion of the working population has a disability that is not visible. Many choose not to disclose this at work, particularly in educational workplaces where disability is underrepresented. A better understanding of the barriers and facilitators to disclosure is needed.</p><p><strong>Sources of data: </strong>this scoping review is based on studies published in scientific journals.</p><p><strong>Areas of agreement: </strong>the reasons underpinning disclosure are complex and emotive-in-nature. Both individual and socio-environmental factors influence this decision and process. Stigma and perceived discrimination are key barriers to disclosure and, conversely, personal agency a key enabler.</p><p><strong>Areas of controversy: </strong>there is a growing trend of non-visible disabilities within the workplace, largely because of the increasing prevalence of mental ill health. Understanding the barriers and facilitators to disability disclosure is key to the provision of appropriate workplace support.</p><p><strong>Growing points: </strong>our review shows that both individual and socio-environmental factors influence choice and experience of disclosure of non-visible disabilities in educational workplaces. Ongoing stigma and ableism in the workplace, in particular, strongly influence disabled employees' decision to disclose (or not), to whom, how and when.</p><p><strong>Areas timely for developing research: </strong>developing workplace interventions that can support employees with non-visible disabilities and key stakeholders during and beyond reasonable adjustments is imperative.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":" ","pages":"23-41"},"PeriodicalIF":6.7,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11180548/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140027420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Time to bring female genital schistosomiasis out of neglect. 是时候让女性生殖器血吸虫病不再被忽视了。
IF 6.7 2区 医学
British medical bulletin Pub Date : 2024-03-13 DOI: 10.1093/bmb/ldad034
Olimpia Lamberti, Fiammetta Bozzani, Kita Kiyoshi, Amaya L Bustinduy
{"title":"Time to bring female genital schistosomiasis out of neglect.","authors":"Olimpia Lamberti, Fiammetta Bozzani, Kita Kiyoshi, Amaya L Bustinduy","doi":"10.1093/bmb/ldad034","DOIUrl":"10.1093/bmb/ldad034","url":null,"abstract":"<p><strong>Background: </strong>Female genital schistosomiasis (FGS) is a chronic gynaecological disease affecting girls and women in sub-Saharan Africa (SSA), caused by the parasite Schistosoma (S.) haematobium. FGS is associated with sexual dysfunction, reproductive tract morbidity and increased prevalence of HIV and cervical precancer lesions.</p><p><strong>Source of data: </strong>Key peer-reviewed published literature.</p><p><strong>Areas of agreement: </strong>FGS screening and diagnosis require costly equipment and specialized training, seldom available in resource-limited settings. FGS surveillance is not included in wider schistosomiasis control strategies. The interplay of FGS with other SRH infections is not fully understood. Integration of FGS within sexual and reproductive health (SRH) control programmes needs to be explored.</p><p><strong>Areas of controversy: </strong>There are no standardized methods for individual or population-based FGS screening and diagnosis, hindering accurate disease burden estimates and targeted resource allocation. Treatment recommendations rely on public health guidelines, without rigorous clinical evidence on efficacy.</p><p><strong>Growing points: </strong>Integrating FGS screening with SRH programmes offers an opportunity to reach at-risk women with limited access to healthcare services. Home-based self-sampling coupled with handheld colposcopes operated by primary healthcare workers show promise for FGS diagnosis and surveillance at scale.</p><p><strong>Areas timely for developing research: </strong>There is growing interest in decentralizing strategies for FGS screening and diagnosis. The accurate predictions on the 'cost-effectiveness' of these approaches will determine their affordability and feasibility within the overburdened health systems in SSA. Clinical trials are needed to optimize FGS treatment. Longitudinal studies can expand on the epidemiological knowledge on co-morbidities and integration within other SRH interventions.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":" ","pages":"45-59"},"PeriodicalIF":6.7,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938538/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139466262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetics in Parkinson's disease, state-of-the-art and future perspectives. 帕金森病的遗传学、最新进展和未来展望。
IF 6.7 2区 医学
British medical bulletin Pub Date : 2024-03-13 DOI: 10.1093/bmb/ldad035
L Trevisan, A Gaudio, E Monfrini, L Avanzino, A Di Fonzo, P Mandich
{"title":"Genetics in Parkinson's disease, state-of-the-art and future perspectives.","authors":"L Trevisan, A Gaudio, E Monfrini, L Avanzino, A Di Fonzo, P Mandich","doi":"10.1093/bmb/ldad035","DOIUrl":"10.1093/bmb/ldad035","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is the second most common neurodegenerative disorder and is clinically characterized by the presence of motor (bradykinesia, rigidity, rest tremor and postural instability) and non-motor symptoms (cognitive impairment, autonomic dysfunction, sleep disorders, depression and hyposmia). The aetiology of PD is unknown except for a small but significant contribution of monogenic forms.</p><p><strong>Sources of data: </strong>No new data were generated or analyzed in support of this review.</p><p><strong>Areas of agreement: </strong>Up to 15% of PD patients carry pathogenic variants in PD-associated genes. Some of these genes are associated with mendelian inheritance, while others act as risk factors. Genetic background influences age of onset, disease course, prognosis and therapeutic response.</p><p><strong>Areas of controversy: </strong>Genetic testing is not routinely offered in the clinical setting, but it may have relevant implications, especially in terms of prognosis, response to therapies and inclusion in clinical trials. Widely adopted clinical guidelines on genetic testing are still lacking and open to debate. Some new genetic associations are still awaiting confirmation, and selecting the appropriate genes to be included in diagnostic panels represents a difficult task. Finally, it is still under study whether (and to which degree) specific genetic forms may influence the outcome of PD therapies.</p><p><strong>Growing points: </strong>Polygenic Risk Scores (PRS) may represent a useful tool to genetically stratify the population in terms of disease risk, prognosis and therapeutic outcomes.</p><p><strong>Areas timely for developing research: </strong>The application of PRS and integrated multi-omics in PD promises to improve the personalized care of patients.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":" ","pages":"60-71"},"PeriodicalIF":6.7,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139569436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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