British medical bulletin最新文献_第10页

From the archive 从档案中

IF 6.7 2区医学

British medical bulletin Pub Date : 2021-12-16 DOI: 10.1093/bmb/ldab029

Vetter N.

引用次数: 0

Treatment strategies for mosaic overgrowth syndromes of the PI3K-AKT-mTOR pathway. PI3K-AKT-mTOR通路马赛克过度生长综合征的治疗策略

IF 6.7 2区医学

British medical bulletin Pub Date : 2021-12-16 DOI: 10.1093/bmb/ldab023

Gabriel Morin, Guillaume Canaud

{"title":"Treatment strategies for mosaic overgrowth syndromes of the PI3K-AKT-mTOR pathway.","authors":"Gabriel Morin, Guillaume Canaud","doi":"10.1093/bmb/ldab023","DOIUrl":"https://doi.org/10.1093/bmb/ldab023","url":null,"abstract":"Introduction or background: Mosaic overgrowth syndromes (OS) are a proteiform ensemble of rare diseases displaying asymmetric overgrowth involving any tissue type, with degrees of severity ranging from isolated malformation to life-threatening conditions such as pulmonary embolism. Despite discordant clinical presentations, all those syndromes share common genetic anomalies: somatic mutations of genes involved in cell growth and proliferation. The PI3K-AKT-mTOR signaling pathway is one of the most prominent regulators of cell homeostasis, and somatic oncogenic mutations affecting this pathway are responsible for mosaic OS. This review aims to describe the clinical and molecular characteristics of the main OS involving the PI3K-AKT-mTOR pathway, along with the treatments available or under development.Sources of data: This review summarizes available data regarding OS in scientific articles published in peer-reviewed journals.Areas of agreement: OS care requires a multidisciplinary approach relying on clinical and radiological follow-up along with symptomatic treatment. However, no specific treatment has yet shown efficacy in randomized control trials.Areas of controversy: Clinical classifications of OS led to frequent misdiagnosis. Moreover, targeted therapies directed at causal mutated proteins are developing in OSs through cancer drugs repositioning, but the evidence of efficacy and tolerance is still lacking for most of them.Growing points: The genetic landscape of OS is constantly widening and molecular classifications tend to increase the accuracy of diagnosis, opening opportunities for targeted therapies.Areas timely for developing research: OS are a dynamic, expanding field of research. Studies focusing on the identification of genetic anomalies and their pharmacological inhibition are needed.","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"140 1","pages":"36-49"},"PeriodicalIF":6.7,"publicationDate":"2021-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39423093","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: 3

Diagnosis and epidemiology of winged scapula in breast cancer patients: A systematic review and meta-analysis. 乳腺癌患者翼状肩胛骨的诊断和流行病学:一项系统综述和荟萃分析。

IF 6.7 2区医学

British medical bulletin Pub Date : 2021-12-16 DOI: 10.1093/bmb/ldab021

Milger P Plaza Meza, Theodorakys Marín Fermín, Nicola Maffulli

{"title":"Diagnosis and epidemiology of winged scapula in breast cancer patients: A systematic review and meta-analysis.","authors":"Milger P Plaza Meza, Theodorakys Marín Fermín, Nicola Maffulli","doi":"10.1093/bmb/ldab021","DOIUrl":"https://doi.org/10.1093/bmb/ldab021","url":null,"abstract":"Background: Winged scapula (WS) is a critical complication of axillary surgery in patients treated for breast cancer, and is associated with pain, impairment of the upper extremity's function and poor performance in daily activities.Sources of data: A systematic review and meta-analysis were performed following the PRISMA guidelines. Two independent reviewers searched PubMed, Embase and Virtual Health Library databases from January 1, 2000 to December 1, 2020. Clinical studies evaluating the diagnosis and epidemiology of WS among breast cancer surgery (BCS) patients were included.Areas of agreement: The diagnosis of WS relies almost entirely on physical assessment. Studies have suggested a high variability in the report of the incidence of WS given the subjectivity of its diagnosis, and the different criteria used during clinical assessment.Areas of controversy: The diagnosis of WS in BCS patients remains a challenge given the lack of standardized diagnostic protocols. Physical examination cannot rely on one manoeuvre only, as it may overlook patients with subtle injuries or overweight and contributing to the underreporting of its incidence.Growing points: BCS patients undergoing axillary lymph node dissection experience a significantly higher incidence of WS than those undergoing sentinel lymph node dissection. The global incidence of WS after BCS is 16.79%. Additionally, the anterior flexion test and the push-up test are the most commonly performed diagnostic manoeuvers.Areas timely for developing research: Further studies should aim for objective diagnostic tests, especially when the condition is not evident.","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"140 1","pages":"23-35"},"PeriodicalIF":6.7,"publicationDate":"2021-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39376298","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

Translational aspects of novel findings in genetics of male infertility-status quo 2021. 男性不育遗传学新发现的翻译方面-现状2021。

IF 6.7 2区医学

British medical bulletin Pub Date : 2021-12-16 DOI: 10.1093/bmb/ldab025

Maris Laan, Laura Kasak, Margus Punab

{"title":"Translational aspects of novel findings in genetics of male infertility-status quo 2021.","authors":"Maris Laan, Laura Kasak, Margus Punab","doi":"10.1093/bmb/ldab025","DOIUrl":"https://doi.org/10.1093/bmb/ldab025","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 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":"140 1","pages":"5-22"},"PeriodicalIF":6.7,"publicationDate":"2021-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/de/a3/ldab025.PMC8677437.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39859386","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: 7

Membrane scaffolds for matrix-induced autologous chondrocyte implantation in the knee: a systematic review. 膜支架用于基质诱导的膝关节自体软骨细胞植入:系统综述。

IF 6.7 2区医学

British medical bulletin Pub Date : 2021-12-16 DOI: 10.1093/bmb/ldab024

Filippo Migliorini, Jörg Eschweiler, Christian Goetze, Markus Tingart, Nicola Maffulli

{"title":"Membrane scaffolds for matrix-induced autologous chondrocyte implantation in the knee: a systematic review.","authors":"Filippo Migliorini, Jörg Eschweiler, Christian Goetze, Markus Tingart, Nicola Maffulli","doi":"10.1093/bmb/ldab024","DOIUrl":"https://doi.org/10.1093/bmb/ldab024","url":null,"abstract":"Introduction: Chondral defects of the knee are common and their management is challenging.Source of data: Current scientific literature published in PubMed, Google scholar, Embase and Scopus.Areas of agreement: Membrane-induced autologous chondrocyte implantation (mACI) has been used to manage chondral defects of the knee.Areas of controversy: Hyaluronic acid membrane provides better outcomes than a collagenic membrane for mACI in the knee at midterm follow-up is controversial.Growing points: To investigate whether hyaluronic acid membrane may provide comparable clinical outcomes than collagenic membranes for mACI in focal defects of the knee.Areas timely for developing research: Hyaluronic acid membrane yields a lower rate of failures and revision surgeries for mACI in the management of focal articular cartilage defects of the knee compared with collagenic scaffolds at midterm follow-up. No difference was found in patient reported outcome measures (PROMs). Further comparative studies are required to validate these results in a clinical setting.","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"140 1","pages":"50-61"},"PeriodicalIF":6.7,"publicationDate":"2021-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39440195","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: 9

Immunotherapy for type 1 diabetes. 1型糖尿病的免疫治疗。

IF 6.7 2区医学

British medical bulletin Pub Date : 2021-12-16 DOI: 10.1093/bmb/ldab027

L A Allen, C M Dayan

{"title":"Immunotherapy for type 1 diabetes.","authors":"L A Allen, C M Dayan","doi":"10.1093/bmb/ldab027","DOIUrl":"https://doi.org/10.1093/bmb/ldab027","url":null,"abstract":"Introduction: Despite advances in technology including the development of more sophisticated methods of monitoring blood glucose and delivering insulin, many individuals with type 1 diabetes continue to experience significant challenges in optimizing glycaemic control. Alternative treatment approaches to insulin are required. Increasing efforts have focused on developing treatments aimed at targeting the underlying disease process to modulate the immune system, maximize beta cell function and enhance endogenous insulin production and action.Sources of data: Literature searches with keywords 'Type 1 diabetes and immunotherapy', publications relating to clinical trials of immunotherapy in type 1 diabetes.Areas of agreement: Insulin therapy is insufficient to achieve optimal glycaemic control in many individuals with type 1 diabetes, and new treatment approaches are required. Studies have showed promising results for the use of immunotherapy as a means of delaying disease onset and progression.Areas of controversy: The optimal way of identifying individuals most likely to benefit from immunotherapies.Growing points: A better understanding of the natural history of type 1 diabetes has made it possible to identify individuals who have developed autoimmunity but have not yet progressed to clinical diabetes, offering opportunities not only to develop treatments that delay disease progression, but prevent its development in the first place. A consensus on how to identify individuals who may benefit from immunotherapy to prevent disease onset is needed.Areas timely for developing research: The development of optimal strategies for preventing and delaying progression of type 1 diabetes, and monitoring the response to immunointervention.","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"140 1","pages":"76-90"},"PeriodicalIF":6.7,"publicationDate":"2021-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39714594","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

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 男性不育遗传学新发现的转化方面——现状2021以及癌症患者翼肩胛骨的诊断和流行病学：系统综述和荟萃分析

IF 6.7 2区医学

British medical bulletin Pub Date : 2021-12-01 DOI: 10.1093/bmb/ldab028

{"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}

引用次数: 0

Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases. 骨骼发育不良的临床试验:治疗罕见疾病的范例。

IF 6.7 2区医学

British medical bulletin Pub Date : 2021-09-10 DOI: 10.1093/bmb/ldab017

Ataf Sabir, Melita Irving

{"title":"Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.","authors":"Ataf Sabir, Melita Irving","doi":"10.1093/bmb/ldab017","DOIUrl":"https://doi.org/10.1093/bmb/ldab017","url":null,"abstract":"Background: 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.Sources of data: 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.Areas of agreement: We discuss current clinical trials for in achondroplasia, osteopetrosis, osteogenesis imperfecta, hypophosphataemic rickets, hypophosphatasia and fibrous ossificans progressiva.Areas of controversy: We explore challenges in GSD drug development from clinician input, cost-effectiveness and evidenced-based practice.Growing points: We explore opportunities brought by earlier diagnosis, its treatment impact and the challenges of gene editing.Areas timely for developing research: We horizon scan for future clinical trials.","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}

引用次数: 2

Subacromial spacer implantation: an alternative to arthroscopic superior capsular reconstruction. A systematic review. 肩峰下垫片植入术:关节镜下上囊重建的替代方法。系统回顾。

IF 6.7 2区医学

British medical bulletin Pub Date : 2021-09-10 DOI: 10.1093/bmb/ldab014

Leonardo Osti, Lorenzo Milani, Silvana Ferrari, Nicola Maffulli

{"title":"Subacromial spacer implantation: an alternative to arthroscopic superior capsular reconstruction. A systematic review.","authors":"Leonardo Osti, Lorenzo Milani, Silvana Ferrari, Nicola Maffulli","doi":"10.1093/bmb/ldab014","DOIUrl":"https://doi.org/10.1093/bmb/ldab014","url":null,"abstract":"Introduction: 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.Sources of data: 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'.Areas of agreement: We included a total of 29 articles (14 about SSI and 15 about ASCR) dealing with outcomes, satisfaction and patients' quality of life.Areas of controversy: The use of a subacromial spacer showed similar results in terms of patients' satisfaction and quality of life when compared with ASCR.Growing points: SSI can be implanted quickly and has a low complication rate. It can therefore be considered a good alternative for the management of MIRCTs.Areas timely for developing research: 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.","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}

引用次数: 6

Placebo effect in pharmacological management of fibromyalgia: a meta-analysis. 纤维肌痛药理学治疗中的安慰剂效应:一项荟萃分析。

IF 6.7 2区医学

British medical bulletin Pub Date : 2021-09-10 DOI: 10.1093/bmb/ldab015

Filippo Migliorini, Nicola Maffulli, Jörg Eschweiler, Marcel Betsch, Markus Tingart, Giorgia Colarossi

{"title":"Placebo effect in pharmacological management of fibromyalgia: a meta-analysis.","authors":"Filippo Migliorini, Nicola Maffulli, Jörg Eschweiler, Marcel Betsch, Markus Tingart, Giorgia Colarossi","doi":"10.1093/bmb/ldab015","DOIUrl":"https://doi.org/10.1093/bmb/ldab015","url":null,"abstract":"Introduction: The management of fibromyalgia involves a combination of pharmacological and non-pharmacological treatments.Source of data: Recently published literature in PubMed, Google Scholar and Embase databases.Areas of agreement: 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.Areas of controversy: The placebo effect is believed to impact the clinical outcomes, but its actual magnitude is controversial.Growing points: A meta-analysis comparing pharmacological management versus placebo administration for fibromyalgia was conducted.Areas timely for developing research: 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.Level of evidence: I, Bayesian network meta-analysis of double-blind randomized clinical trials.","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}

引用次数: 6