British medical bulletin最新文献

{"title":"Translational aspects of novel findings in genetics of male infertility—status quo 2021 and diagnosis and epidemiology of winged scapula in breast cancer patients: a systematic review and meta-analysis","authors":"","doi":"10.1093/bmb/ldab028","DOIUrl":"https://doi.org/10.1093/bmb/ldab028","url":null,"abstract":"Introduction: Male factor infertility concerns 7–10% of men and among these 40–60% remain unexplained. Sources of data: This review is based on recent published literature regarding the genetic causes of male infertility. Areas of agreement: Screening for karyotype abnormalities, biallelic pathogenic variants in the CFTR gene and Y-chromosomal microdeletions have been routine in andrology practice for >20 years, explaining ∼10% of infertility cases. Rare specific conditions, such as congenital hypogonadotropic hypogonadism, disorders of sex development and defects of sperm morphology and motility, are caused by pathogenic variants in recurrently affected genes, which facilitate high diagnostic yield (40–60%) of targeted gene panel-based testing. Areas of controversy: Progress in mapping monogenic causes of quantitative spermatogenic failure, the major form of male infertility, has been slower. No ‘recurrently’ mutated key gene has been identified and worldwide, a few hundred patients in total have been assigned a possible monogenic cause. Growing points: Given the high genetic heterogeneity, an optimal approach to screen for heterogenous genetic causes of spermatogenic failure is 6 M. Laan et al., 2021, Vol. 140 sequencing exomes or in perspective, genomes. Clinical guidelines developed by multidisciplinary experts are needed for smooth integration of expanded molecular diagnostics in the routine management of infertile men. Areas timely for developing research: Di−/oligogenic causes, structural and common variants implicated in multifactorial inheritance may explain the ‘hidden’ genetic factors. It is also critical to understand how the recently identified diverse genetic factors of infertility link to general male health concerns across lifespan and how the clinical assessment could benefit from this knowledge.","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":" ","pages":""},"PeriodicalIF":6.7,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47074716","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}

{"title":"Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.","authors":"Ataf Sabir,&nbsp;Melita Irving","doi":"10.1093/bmb/ldab017","DOIUrl":"https://doi.org/10.1093/bmb/ldab017","url":null,"abstract":"<p><strong>Background: </strong>Genetic skeletal dysplasia conditions (GSDs) account for 5% of all birth defects. Until recently, targeted treatments were only available for select few conditions; 1 however, opportunities arising from developments in molecular diagnostic technologies are now leading to unparalleled therapeutic advances. This review explores current GSD clinical trials, their challenges and the hopes for the future.</p><p><strong>Sources of data: </strong>A systematic literature search of relevant original articles, reviews and meta-analyses restricted to English was conducted using PubMed up to February 2020 regarding emerging GSD therapies.</p><p><strong>Areas of agreement: </strong>We discuss current clinical trials for in achondroplasia, osteopetrosis, osteogenesis imperfecta, hypophosphataemic rickets, hypophosphatasia and fibrous ossificans progressiva.</p><p><strong>Areas of controversy: </strong>We explore challenges in GSD drug development from clinician input, cost-effectiveness and evidenced-based practice.</p><p><strong>Growing points: </strong>We explore opportunities brought by earlier diagnosis, its treatment impact and the challenges of gene editing.</p><p><strong>Areas timely for developing research: </strong>We horizon scan for future clinical trials.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"139 1","pages":"16-35"},"PeriodicalIF":6.7,"publicationDate":"2021-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39362166","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}

{"title":"Subacromial spacer implantation: an alternative to arthroscopic superior capsular reconstruction. A systematic review.","authors":"Leonardo Osti,&nbsp;Lorenzo Milani,&nbsp;Silvana Ferrari,&nbsp;Nicola Maffulli","doi":"10.1093/bmb/ldab014","DOIUrl":"https://doi.org/10.1093/bmb/ldab014","url":null,"abstract":"<p><strong>Introduction: </strong>This systematic review evaluated and compared the use of a subacromial spacer implantation (SSI) with arthroscopic superior capsular repair (ASCR) in the management of massive irreparable rotator cuff tears (MIRCTs) with an assessment of clinical and imaging outcomes.</p><p><strong>Sources of data: </strong>This systematic review was carried out following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. We searched in PubMed, Medline and Embase database literature using the keywords 'subacromial spacer', 'subacromial balloon', 'subacromial device', 'arthroscopy', 'superior capsular reconstruction', 'irreparable rotator cuff tears', 'satisfaction' and 'quality of life'.</p><p><strong>Areas of agreement: </strong>We included a total of 29 articles (14 about SSI and 15 about ASCR) dealing with outcomes, satisfaction and patients' quality of life.</p><p><strong>Areas of controversy: </strong>The use of a subacromial spacer showed similar results in terms of patients' satisfaction and quality of life when compared with ASCR.</p><p><strong>Growing points: </strong>SSI can be implanted quickly and has a low complication rate. It can therefore be considered a good alternative for the management of MIRCTs.</p><p><strong>Areas timely for developing research: </strong>The subacromial spacer is a biodegradable implant easily implanted at arthroscopy. It can lead good clinical and imaging outcomes in MIRCTs. Similarly, ASCR can be performed with either an autograft or synthetic allograft transplantation, with satisfactory results. Long-term prospective studies are needed to compare SSI and ASCR to verify their effectiveness.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"139 1","pages":"59-72"},"PeriodicalIF":6.7,"publicationDate":"2021-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39061323","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}

{"title":"Placebo effect in pharmacological management of fibromyalgia: a meta-analysis.","authors":"Filippo Migliorini,&nbsp;Nicola Maffulli,&nbsp;Jörg Eschweiler,&nbsp;Marcel Betsch,&nbsp;Markus Tingart,&nbsp;Giorgia Colarossi","doi":"10.1093/bmb/ldab015","DOIUrl":"https://doi.org/10.1093/bmb/ldab015","url":null,"abstract":"<p><strong>Introduction: </strong>The management of fibromyalgia involves a combination of pharmacological and non-pharmacological treatments.</p><p><strong>Source of data: </strong>Recently published literature in PubMed, Google Scholar and Embase databases.</p><p><strong>Areas of agreement: </strong>Several pharmacological and non-pharmacological strategies have been proposed for the management of fibromyalgia. However, the management of fibromyalgia remains controversial. The administration of placebo has proved to be more effective than no treatment in many clinical settings and evidence supports the 'therapeutic' effects of placebo on a wide range of symptoms.</p><p><strong>Areas of controversy: </strong>The placebo effect is believed to impact the clinical outcomes, but its actual magnitude is controversial.</p><p><strong>Growing points: </strong>A meta-analysis comparing pharmacological management versus placebo administration for fibromyalgia was conducted.</p><p><strong>Areas timely for developing research: </strong>Drug treatment resulted to be more effective than placebo administration for the management of fibromyalgia. Nevertheless, placebo showed a beneficial effect in patients with fibromyalgia. Treatment-related adverse events occurred more frequently in the drug treatment.</p><p><strong>Level of evidence: </strong>I, Bayesian network meta-analysis of double-blind randomized clinical trials.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"139 1","pages":"73-85"},"PeriodicalIF":6.7,"publicationDate":"2021-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39211928","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}

{"title":"Capsular repair vs capsulectomy in total hip arthroplasty.","authors":"Luca Miranda,&nbsp;Marco Quaranta,&nbsp;Francesco Oliva,&nbsp;Attilio Giuliano,&nbsp;Nicola Maffulli","doi":"10.1093/bmb/ldab011","DOIUrl":"https://doi.org/10.1093/bmb/ldab011","url":null,"abstract":"<p><strong>Background: </strong>A major complication of total hip arthroplasty is dislocation. The hip joint capsule can be incised and repaired, or can be excised.</p><p><strong>Sources of data: </strong>We performed a systematic review of the literature following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines focusing on capsular repair and capsulectomy.</p><p><strong>Areas of agreement: </strong>We identified 31 articles (17 272 patients). Capsular repair produced a lower blood loss (465.2 vs 709.2 ml), and the procedure lasted 102.5 vs 96.08 min in patients who underwent capsulectomy. The patients undergoing capsulectomy experienced a dislocation rate of 3.06%, whereas in the patients undergoing capsular repair, the dislocation rate was 0.65%.</p><p><strong>Areas of controversy: </strong>Most studies are retrospective observational studies, with no prospective randomized trials.</p><p><strong>Growing points: </strong>Capsular preservation is association with a lower dislocation rate and a lower blood loss. Capsular excision does take statistically less time, but it is uncertain how a 6 min difference is clinically relevant.</p><p><strong>Areas timely for developing research: </strong>Appropriately powered randomized clinical trials should be conducted to better define the association between the chosen implants, approach and outcome.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"139 1","pages":"36-47"},"PeriodicalIF":6.7,"publicationDate":"2021-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39338190","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}

{"title":"Why exercise has a crucial role in cancer prevention, risk reduction and improved outcomes.","authors":"Robert Thomas,&nbsp;Stacey A Kenfield,&nbsp;Yuuki Yanagisawa,&nbsp;Robert U Newton","doi":"10.1093/bmb/ldab019","DOIUrl":"10.1093/bmb/ldab019","url":null,"abstract":"<p><strong>Introduction: </strong>Exercise is one of several factors known to lower the risk of developing cancer, as well as improve outcomes in patients already diagnosed. People who exercise after cancer have lower rates of cancer complications, treatment toxicities, relapse and improved survival. This review highlights the supportive data and biochemical processes, which explain these potential benefits.</p><p><strong>Sources of data: </strong>PubMed, Embase, Medline and Cochrane libraries were searched for papers which addressed the effects of exercise and physical activity on cancer for this review. The search terms used were physical activity, exercise and cancer up to February 2021. We also referred to the background research required for international exercise intervention study involving men with prostate cancer (INTERVAL-GAP4) and scrutinized references within the robust papers published on this subject to ensure we did not miss any clinically studies. One hundred and eighty eight papers were included.</p><p><strong>Areas of agreement: </strong>Exercise programmes mitigate many of the complications and risks associated with cancer, particularly thromboembolism, fatigue, weight gain, arthralgia, cognitive impairment and depression.</p><p><strong>Areas of controversy: </strong>Molecular and biomarker changes, resulting from exercise, suggest that exercise elicits beneficial changes in insulin-related pathways, down-regulates inflammation and serum oestrogen levels, and enhances oxidative, immune and cellular repair pathways. Nonetheless, the evidence remains preliminary.</p><p><strong>Growing points: </strong>The timing, intensity and challenges of prehabilitation, adjunct and rehabilitation exercise programmes are being increasingly understood but their implementation remains sporadic.</p><p><strong>Areas for developing research: </strong>More robust clinical trial data are needed to substantiate a causal effect of exercise on overall and cancer-specific survival. These studies are ongoing. Research evaluating the most cost-efficient ways of incorporating prehabilitation, adjunct and rehabilitation programmes into routine practice would be helpful to funding bodies and health care strategists.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"139 1","pages":"100-119"},"PeriodicalIF":6.7,"publicationDate":"2021-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8431973/pdf/ldab019.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39338237","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}

{"title":"Management of Gustilo-Anderson IIIB open tibial fractures in adults-a systematic review.","authors":"A Myatt,&nbsp;H Saleeb,&nbsp;G A J Robertson,&nbsp;Jana Keren Bourhill,&nbsp;P R J Page,&nbsp;A M Wood","doi":"10.1093/bmb/ldab013","DOIUrl":"https://doi.org/10.1093/bmb/ldab013","url":null,"abstract":"<p><strong>Introduction: </strong>Open tibial fractures are the most common open long bone fracture, despite this, the management of these complex injuries still remains a topic of discussion amongst orthopaedic surgeons.</p><p><strong>Sources of data: </strong>We searched the EMBASE, MEDLINE and Google Scholar and a systematic review of 7500 articles, leaving 23 after exclusion criteria were applied, in order to analyse the management of open tibial fractures.</p><p><strong>Areas of agreement and controversy: </strong>Infection was noted to be the most significant concern amongst authors, with definitive external fixation having a high rate of superficial pin-site infection and internal fixation having a high deep infection rate.</p><p><strong>Growing points: </strong>It is essential to have a combined ortho-plastic approach to the management of these fractures as muscle flaps were the most common form of soft tissue coverage.</p><p><strong>Areas timely for developing research: </strong>A national pragmatic trial into the management of open tibial fractures is required looking at fixation methods and soft tissue coverage, with at least a 2-year follow-up in order to ascertain the most appropriate management of these fractures and patient-related outcomes.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"139 1","pages":"48-58"},"PeriodicalIF":6.7,"publicationDate":"2021-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39154503","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}

{"title":"Platelet-rich plasma versus steroids injections for greater trochanter pain syndrome: a systematic review and meta-analysis.","authors":"Filippo Migliorini,&nbsp;Nardeen Kader,&nbsp;Jörg Eschweiler,&nbsp;Markus Tingart,&nbsp;Nicola Maffulli","doi":"10.1093/bmb/ldab018","DOIUrl":"https://doi.org/10.1093/bmb/ldab018","url":null,"abstract":"<p><strong>Introduction: </strong>Greater trochanter pain syndrome (GTPS) is characterized by a persistent and debilitating pain around the greater trochanter. GTPS can be caused by a combination of gluteus medius or minimus tendinopathy, snapping hip or trochanteric bursitis.</p><p><strong>Source of data: </strong>Recent published literatures identified from PubMed, EMBASE, Google Scholar, Scopus.</p><p><strong>Areas of agreement: </strong>Platelet rich plasma (PRP) and corticosteroids (CCS) injections are useful options to manage symptoms of GTPS.</p><p><strong>Areas of controversy: </strong>Whether PRP leads to superior outcomes compared to CCS injections is unclear.</p><p><strong>Growing points: </strong>A systematic review and meta-analysis comparing PRP versus CCS in the management of GTPS was conducted.</p><p><strong>Areas timely for developing research: </strong>PRP injections are more effective than CCS at approximately 2 years follow-up.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"139 1","pages":"86-99"},"PeriodicalIF":6.7,"publicationDate":"2021-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39322413","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}

{"title":"The promise of artificial intelligence: a review of the opportunities and challenges of artificial intelligence in healthcare.","authors":"Yuri Y M Aung,&nbsp;David C S Wong,&nbsp;Daniel S W Ting","doi":"10.1093/bmb/ldab016","DOIUrl":"https://doi.org/10.1093/bmb/ldab016","url":null,"abstract":"<p><strong>Introduction: </strong>Artificial intelligence (AI) and machine learning (ML) are rapidly evolving fields in various sectors, including healthcare. This article reviews AI's present applications in healthcare, including its benefits, limitations and future scope.</p><p><strong>Sources of data: </strong>A review of the English literature was conducted with search terms 'AI' or 'ML' or 'deep learning' and 'healthcare' or 'medicine' using PubMED and Google Scholar from 2000-2021.</p><p><strong>Areas of agreement: </strong>AI could transform physician workflow and patient care through its applications, from assisting physicians and replacing administrative tasks to augmenting medical knowledge.</p><p><strong>Areas of controversy: </strong>From challenges training ML systems to unclear accountability, AI's implementation is difficult and incremental at best. Physicians also lack understanding of what AI implementation could represent.</p><p><strong>Growing points: </strong>AI can ultimately prove beneficial in healthcare, but requires meticulous governance similar to the governance of physician conduct.</p><p><strong>Areas timely for developing research: </strong>Regulatory guidelines are needed on how to safely implement and assess AI technology, alongside further research into the specific capabilities and limitations of its medical use.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"139 1","pages":"4-15"},"PeriodicalIF":6.7,"publicationDate":"2021-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39334010","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}

{"title":"The promise of artificial intelligence: a review of the opportunities and challenges of artificial intelligence in healthcare and clinical trials in skeletal dysplasia: a paradigm for treating rare diseases","authors":"Norman J. Vetter","doi":"10.1093/bmb/ldab022","DOIUrl":"https://doi.org/10.1093/bmb/ldab022","url":null,"abstract":"","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"1 1","pages":""},"PeriodicalIF":6.7,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44754557","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}