Dm Disease-A-Month最新文献

{"title":"Patient perspectives on Lambert-E--aton myasthenic syndrome.","authors":"David P Randall, Matthew C Randall, Faisal Fecto, Alexander J Randall, David J Post, Ryan Feldman","doi":"10.1016/j.disamonth.2025.101968","DOIUrl":"https://doi.org/10.1016/j.disamonth.2025.101968","url":null,"abstract":"<p><p>To better understand what it's like to live with Lambert-Eaton myasthenic syndrome (LEMS), we spoke to two individuals who have been living with non-tumor LEMS for years. They graciously shared stories that shed light on the day to day impact of this rare condition extending from mobility and daily functioning to identity, relationships, and mental health. In sharing their experiences, they also offered insights and advice for others newly diagnosed with LEMS or managing its challenges long-term.</p>","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":" ","pages":"101968"},"PeriodicalIF":3.8,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144621135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fibromyalgia: Advances in pathophysiology, diagnostic biomarkers, genetic insights, multisystemic involvement, and treatment updates and multidisciplinary interventions.","authors":"Neo Zhong Yi Benjamin, Rushin S Parekh, Pugazhendi Inban, Sai Sakthi, Yogesh Tekuru, Priyadarshi Prajjwal, Jobby John, Renu Sharma","doi":"10.1016/j.disamonth.2025.101965","DOIUrl":"https://doi.org/10.1016/j.disamonth.2025.101965","url":null,"abstract":"<p><strong>Background: </strong>This systematic review examines the pathophysiology, biomarkers, genetic insights, and treatment strategies for fibromyalgia, highlighting central sensitization, neuroinflammation, comorbidities, and the effectiveness of multidisciplinary interventions, including pharmacological and non-pharmacological therapies, to improve patient outcomes and quality of life.</p><p><strong>Objectives: </strong>This study aims to explore the pathophysiology, diagnostic biomarkers, genetic insights, and multisystemic involvement in fibromyalgia. It also evaluates the effectiveness of pharmacological and non-pharmacological treatments in improving pain, fatigue, sleep quality, and overall quality of life.</p><p><strong>Methodology: </strong>A systematic review was conducted on fibromyalgia from 2020 to 2025, focusing on pathophysiology, biomarkers, genetic insights, and treatment interventions. Studies were selected from PubMed, Web of Science, Scopus, Cochrane Library, and Google Scholar based on PICO criteria. Data on mechanisms, biomarkers, genetic factors, comorbidities, treatments, and outcomes were extracted. Risk of bias was assessed using appropriate tools for RCTs and non-RCTs. A total of 34 studies were included in the final review.</p><p><strong>Results: </strong>The systematic review reveals significant improvements in fibromyalgia patients across various treatment modalities. Pain, sensitization, and sleep quality showed greater improvements using Myofascial Techniques (MTA). Pain alleviation, improved emotional health, and enhanced functional capabilities were noted from CES, S-ketamine, resistance exercise, and therapy dog treatments. Mental and general fatigue was markedly reduced in the FIBROOut group, showing greater levels of both fatigue and overall fatigue, while exercise alleviated fatigue. Sleep quality improvement was noted for all groups, though MTA and CES showed the most drastic changes with PSQI scores going from 15.5 ± 3.7 to 12.2 ± 4.8. Changes in biomarkers were also noted, confirming the usefulness of these methods. In general, multidisciplinary methods provide holistic management of pain, fatigue, and sleep disturbances in patients with fibromyalgia.</p><p><strong>Conclusion: </strong>In conclusion, this review underscores the evolving knowledge on FM pathophysiology, and its relevant biomarkers and genetics, alongside treatment regimens. It highlights the need of tailored multidisciplinary strategies to address complexity of the syndrome.</p>","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":" ","pages":"101965"},"PeriodicalIF":3.8,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Myasthenia gravis: Mechanisms, clinical syndromes, and diagnosis.","authors":"Faisal Fecto","doi":"10.1016/j.disamonth.2025.101969","DOIUrl":"https://doi.org/10.1016/j.disamonth.2025.101969","url":null,"abstract":"<p><p>Myasthenia gravis (MG) is an autoimmune neuromuscular disorder characterized by muscle weakness and fatiguability. The pathogenesis of MG is mediated in most cases by autoantibodies directed against the nicotinic acetylcholine receptor at the neuromuscular junction, although less commonly autoantibodies may target muscle-specific kinase (MuSK) or low-density lipoprotein receptor-related protein 4 (LRP4). These autoantibodies disrupt cholinergic transmission at the neuromuscular junction through several mechanisms, including direct functional blocking, downregulation, destruction, or disruption of receptor clustering in the postsynaptic membrane. MG is characterized by fatigable muscle weakness in the ocular, bulbar, respiratory or limb muscles. Clinical manifestations can vary significantly among individuals depending on the type of autoantibody or presence of thymoma. Due to the variable presentation of symptoms, diagnosing MG can be challenging. A comprehensive approach that combines clinical assessment, serological testing, electrophysiological studies, and imaging is essential for accurate diagnosis.</p>","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":" ","pages":"101969"},"PeriodicalIF":3.8,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144512764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient perspectives on myasthenia gravis.","authors":"Matthew C Randall","doi":"10.1016/j.disamonth.2025.101971","DOIUrl":"https://doi.org/10.1016/j.disamonth.2025.101971","url":null,"abstract":"<p><p>To better understand what it's like to live with myasthenia gravis (MG), we spoke to two individuals who have been living with the disease for years. They graciously shared stories that shed light on the day to day impact of this rare condition extending from muscle strength and daily functioning to personal identity and relationships. In sharing their experiences, they also offered insights and advice for others newly diagnosed with MG and for physicians managing the patients and their challenges.</p>","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":" ","pages":"101971"},"PeriodicalIF":3.8,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144512765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Foreword: Disorders of the neuromuscular junction.","authors":"Jerrold B Leikin","doi":"10.1016/j.disamonth.2025.101966","DOIUrl":"10.1016/j.disamonth.2025.101966","url":null,"abstract":"","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":" ","pages":"101966"},"PeriodicalIF":3.8,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144340610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The recognition, physiology, and treatment of Lambert-Eaton myasthenic syndrome.","authors":"David P Randall","doi":"10.1016/j.disamonth.2025.101967","DOIUrl":"10.1016/j.disamonth.2025.101967","url":null,"abstract":"<p><p>Lambert-Eaton myasthenic syndrome (LEMS) is a rare disease affecting the neuromuscular junction. It causes weakness due to the failure of acetylcholine transmission at the neuromuscular junction. It is also responsible for autonomic symptoms due to the loss of acetylcholine release at autonomic nerves resulting in most often dry mouth, but also impotence, sweating disturbance and orthostatic hypotension. The underlying pathology is split nearly evenly as either paraneoplastic or autoimmune. The challenges in making a diagnosis result in a delay which may correlate with a later initiation of cancer therapy in those with cancers, predominantly small cell lung cancer. There are effective treatments for symptoms of LEMS that work directly at the neuromuscular junction, as well as treatments for the cancer if present. Various types of immunosuppression can be beneficial for both paraneoplastic (T LEMS) and non-tumor LEMS (NT LEMS).</p>","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":" ","pages":"101967"},"PeriodicalIF":3.8,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144340611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A comprehensive review of the treatment options in myasthenia gravis.","authors":"Alexander J Randall, David J Post","doi":"10.1016/j.disamonth.2025.101970","DOIUrl":"10.1016/j.disamonth.2025.101970","url":null,"abstract":"<p><p>The challenge of treating of Myasthenia Gravis (MG) stems from the multiple underlying mechanisms, the varied presentations, the need for chronic immunotherapy, and the long-term consequences of treatment. The disease itself is varied with clinical presentations ranging from droopy eyes to respiratory failure. The underlying etiology may be paraneoplastic or one of several identified antibodies that affect the post-synaptic neuromuscular junction. Treatment strategies vary depending on all of these factors. There are limited medications available for symptomatic treatment of the neuromuscular junction while most treatment focuses on immunotherapy to limit the immune response. Thymectomy is beneficial for most patients with thymoma and many with antibody positive disease. Choosing the right treatments to maximize benefits and limit adverse effects of the medicines is crucial in this chronic disease.</p>","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":" ","pages":"101970"},"PeriodicalIF":3.8,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144340609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Foreword: Fibromyalgia: Advances in pathophysiology, diagnostic biomarkers, genetic insights, multisystemic involvement, and treatment updates and multidisciplinary interventions.","authors":"Jerrold B Leikin","doi":"10.1016/j.disamonth.2025.101964","DOIUrl":"10.1016/j.disamonth.2025.101964","url":null,"abstract":"","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":" ","pages":"101964"},"PeriodicalIF":3.8,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144337224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuromuscular junction toxins.","authors":"Matthew C Randall, Ryan Feldman","doi":"10.1016/j.disamonth.2025.101972","DOIUrl":"10.1016/j.disamonth.2025.101972","url":null,"abstract":"<p><p>The neuromuscular junction (NMJ) is highly susceptible to neurotoxins due to its lack of protective barriers like the blood-brain barrier. Over time, a wide range of natural toxins have evolved to target the NMJ, derived from animals, plants, and bacteria, alongside modern synthetic compounds developed for use in medicine, insecticides, and warfare. These toxins exert their effects through various mechanisms, such as antagonizing or agonizing nicotinic and muscarinic acetylcholine receptors, or inhibiting neurotransmitter release or breakdown. Despite their diverse origins and actions, NMJ toxins often present clinically with muscle weakness and can lead to respiratory failure if untreated. However, variations in presentation and clinical context are critical for accurate diagnosis and appropriate treatment. Understanding these mechanisms is essential for early recognition, effective management, informed use of current medications, and the development of novel therapeutics.</p>","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":" ","pages":"101972"},"PeriodicalIF":3.8,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144337225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"C2: Editorial Board","authors":"","doi":"10.1016/S0011-5029(25)00110-5","DOIUrl":"10.1016/S0011-5029(25)00110-5","url":null,"abstract":"","PeriodicalId":51017,"journal":{"name":"Dm Disease-A-Month","volume":"71 7","pages":"Article 101956"},"PeriodicalIF":3.8,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144231692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}