{"title":"Mendelian randomization and studies","authors":"Anthony Lockett","doi":"10.1016/j.mpmed.2025.03.009","DOIUrl":"10.1016/j.mpmed.2025.03.009","url":null,"abstract":"<div><div>Mendelian randomization is an analytical method that uses genetic variants to overcome the confounding factors of observational studies. For Mendelian randomization analysis to be valid, several assumptions must be true: that genetic variants are associated with exposure; that there is no confounding relationship between the variant and the outcome; and that there are no effects of the variant independent of the outcome. Assuming these assumption are met, Mendelian randomization is a valuable tool in determining causality.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 6","pages":"Pages 361-363"},"PeriodicalIF":0.0,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144147591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Greg L Ginn, Clare Campbell-Cooper, Anthony Lockett
{"title":"The growing role of Bayesian methods in clinical trial design and analysis","authors":"Greg L Ginn, Clare Campbell-Cooper, Anthony Lockett","doi":"10.1016/j.mpmed.2025.04.006","DOIUrl":"10.1016/j.mpmed.2025.04.006","url":null,"abstract":"<div><div>Bayesian methods are increasingly used in clinical trials because of their flexibility and ability to incorporate prior knowledge into data analysis. Unlike frequentist approaches, which rely solely on current trial data, Bayesian methods combine prior information – such as data from earlier studies or expert opinion – with observed data to update the probability of a hypothesis. This dynamic updating process, based on Bayes’ theorem, provides a more intuitive framework for decision-making, particularly in adaptive trials or when sample sizes are small. Bayesian methods excel in handling complex problems such as multiple endpoints or subgroup analyses and allow continuous updates as new data become available. Key advantages include the incorporation of prior information, direct probability-based interpretations of results and greater adaptability compared with frequentist approaches. Applications in clinical trials include: adaptive designs, where trial parameters may be modified based on interim data; efficient use of prior information to reduce sample sizes; probabilistic decision-making to guide trial progress; and enhanced reliability in rare diseases or small trials. By offering a robust, intuitive framework for analysing trial data, Bayesian methods address the complexities of modern clinical research, improving efficiency, adaptability and resource utilization while supporting more informed regulatory and development decisions.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 6","pages":"Pages 388-391"},"PeriodicalIF":0.0,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144147495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Self-assessment/CPD answers","authors":"","doi":"10.1016/j.mpmed.2025.04.009","DOIUrl":"10.1016/j.mpmed.2025.04.009","url":null,"abstract":"","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 6","pages":"Pages 411-415"},"PeriodicalIF":0.0,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144147497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Iron, vitamin B12 and folate","authors":"Gayatri Saxena, Bethany Singh, Annelies Billen","doi":"10.1016/j.mpmed.2025.01.004","DOIUrl":"10.1016/j.mpmed.2025.01.004","url":null,"abstract":"<div><div>Iron, vitamin B<sub>12</sub>, and folate are essential for the body’s metabolic reactions. Deficiency of these in isolation or in combination can lead to anaemia and systemic symptoms. Sometimes the systemic symptoms and deficiency can precede the anaemia. Deficiency states are commonly seen in everyday practice so it is vital to be able to recognize and treat them appropriately. Differentiating and diagnosing the cause of anaemia allows clinicians to understand the steps in clinical presentation and the specific investigations. Every effort should be made to determine the cause of the nutritional deficiency and treat it if possible. Transfusion is rarely required and many of these presentations can be successfully treated with a period of supplementation. Patient compliance with treatment is key to successful treatment.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 4","pages":"Pages 181-185"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143792703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Inherited bleeding disorders","authors":"Gavin Ling, Pu-Lin Luo","doi":"10.1016/j.mpmed.2025.01.007","DOIUrl":"10.1016/j.mpmed.2025.01.007","url":null,"abstract":"<div><div>Inherited bleeding disorders (IBDs) encompass a large number of different but rare conditions that can lead to increased risk of bleeding. The most common IBDs are von Willebrand disease, haemophilia A and haemophilia B. The diagnosis of IBDs requires a detailed history of the bleeding and specialized coagulation testing. The management of bleeding episodes in patients with IBDs can include the use of coagulation factor concentrate, desmopressin and antifibrinolytics such as tranexamic acid. This brief review focuses on the more common IBDs.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 4","pages":"Pages 225-228"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143792064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Management of patients who refuse blood transfusion","authors":"Kelly Feane, James Uprichard","doi":"10.1016/j.mpmed.2025.01.011","DOIUrl":"10.1016/j.mpmed.2025.01.011","url":null,"abstract":"<div><div>The management of patients who refuse blood transfusion presents a unique combination of ethical, legal and medical challenges. Refusal can stem from religious beliefs, such as those held by Jehovah's Witnesses, or other personal reasons, such as fear of transfusion-transmitted infections or being given blood from vaccinated donors. This article presents the principles of respecting patient autonomy while ensuring safe and effective medical care, particularly when life-sustaining treatments are declined. Informed by the UK Mental Capacity Act 2005, which upholds a patient's right to refuse treatment, the article outlines a multidisciplinary approach to patient care that involves identification of the blood refuser, preoperative optimization, intraoperative blood conservation techniques and legal considerations. It also addresses some of the issues in the management of paediatric patients when parents refuse transfusions on behalf of their children. Alternative strategies such as erythropoietin, intravenous iron and cell salvage are discussed. The importance of individualized care plans, early identification, thorough documentation and continuing communication between the multidisciplinary team and the patient or family is emphasized to achieve the best possible outcomes.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 4","pages":"Pages 253-256"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143792069","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Venous thromboembolism and thrombophilia testing","authors":"Beverley J Hunt, Caroline Dix","doi":"10.1016/j.mpmed.2025.02.002","DOIUrl":"10.1016/j.mpmed.2025.02.002","url":null,"abstract":"<div><div>Thrombophilia testing detects individuals with hereditary or acquired prothrombotic states that predispose to venous thromboembolism. If one considers Virchow's triad, thrombophilia describes the changes in blood constituents that predispose to venous thromboembolism. Inherited and acquired risk factors for thrombosis are discussed, and an algorithm for the management of acute deep venous thrombosis and pulmonary embolism is presented.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 4","pages":"Pages 229-234"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143792065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Acquired disorder of thrombosis","authors":"Micky KH Tsui","doi":"10.1016/j.mpmed.2025.02.001","DOIUrl":"10.1016/j.mpmed.2025.02.001","url":null,"abstract":"<div><div>The UK incidence of venous thromboembolism is approximately 1–2 in 1000 per year, with most instances having no identifiable triggers. Usual acquired physiological conditions and other common pathological states can increase the baseline risk of thromboembolism. These include pregnancy, malignancy, drugs, autoimmune disease, obesity, smoking and infection. However, rare acquired causes should be appropriately and promptly investigated in the context of atypical presentations, thrombocytopenia, multiorgan failure and atypical sites of thrombosis. For acquired thrombotic disorders with a chronic course, continuing optimization of modifiable cardiovascular risk factors is important for long-term outcomes.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 4","pages":"Pages 235-239"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143792066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Blood transfusion","authors":"Catherine Booth, Shubha Allard, Susan Robinson","doi":"10.1016/j.mpmed.2025.01.012","DOIUrl":"10.1016/j.mpmed.2025.01.012","url":null,"abstract":"<div><div>The term ‘blood transfusion’ refers to the therapeutic use of whole blood or its components (red cells, platelets, fresh frozen plasma, cryoprecipitate). Careful donor selection and stringent testing by the Blood Service is required to ensure a safe blood supply. Blood transfusion can be life-saving. However, donated blood is a limited resource, and hospital blood transfusion practice must focus on ensuring safe and appropriate use. Patient blood management is an evidence-based multidisciplinary approach aimed at optimizing the care of patients who might need transfusion, to reduce avoidable use of blood components. Clinical transfusion guidelines are essential, supported by education and training with regular practice audits. To minimize errors, particular emphasis must be placed on accurate patient identification from the initial blood sample, through laboratory testing and transfer of blood to clinical areas, to the final bedside check before transfusion. The reporting and monitoring of adverse events via national haemovigilance schemes has highlighted key areas for action and improved transfusion safety. Transfusion medicine must be practised within a strict regulatory framework; the Blood Safety and Quality Regulations 2005 based on European Union blood directives have had particularly far-reaching implications for UK Blood Services and hospital transfusion laboratories.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 4","pages":"Pages 246-252"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143792068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Blood in systemic disease","authors":"Isabel Farmer, Deepti H Radia","doi":"10.1016/j.mpmed.2025.01.009","DOIUrl":"10.1016/j.mpmed.2025.01.009","url":null,"abstract":"<div><div>The bone marrow is highly influenced by external factors, making abnormalities of full blood count (FBC) extremely common in systemic disease. This knowledge is important as correction of the laboratory abnormality often occurs with treatment of the underlying disease. Here we discuss some commonly encountered FBC abnormalities and their association with systemic disease.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 4","pages":"Pages 263-266"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143792071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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