Pub Date : 2025-10-01DOI: 10.1016/j.disamonth.2025.101983
Donald E․ Greydanus MD, DrHC , Muhammad Waqar Azeem MD , Ahsan Nazeer MD
<div><div>The human brain begins <em>in utero</em> through neurulation, during which the neural plate develops into the neural tube. Through a complex journey of remarkable neurological intricacy, the central nervous system (CNS) forms with billions of neurons and trillions of connections. This extraordinary process is filled with dangers, including genetic abnormalities (from both maternal and paternal sources), maternal injuries such as infections, substance use, immunological conditions, and other factors. It is somewhere during this development of cerebral functions that a vulnerability to schizophrenia arises. The evolutionary origins still remain elusive to this day. Clinically recognized about 130 years ago, the history of schizophrenia spans thousands of years, with conceptualization evolving from linking the condition to supernatural invasions to understanding it as a complex brain disorder, as defined by the American Psychiatric Association’s 2013 DSM-5 criteria.</div><div>The typical age range for presentation and diagnosis is usually between 15 and 30 years of age; presentations in older and younger age groups are also identified. Diagnostic definitions can vary; in this discussion, presentation of schizophrenia prior to 18 years of age is called pediatric schizophrenia (or EOS: early-onset schizophrenia) and COS: childhood-onset schizophrenia (very early-onset schizophrenia or VEOS) with onset prior to 13 years of age.</div><div>Concepts of pediatric schizophrenia are considered that include historical perspectives, epidemiology, diagnosis, etiology, co-morbid conditions, differential diagnoses, evaluation principles, and concepts of management (i.e., psychopharmacology, psychotherapy, ECT and psychosocial support).</div><div>Clinicians evaluating a child or adolescent with features suggestive of psychosis must keep in mind the numerous medical and psychological conditions that can serve as differential diagnoses and co-morbid conditions. These disorders are discussed in this treatise. The younger the child, the more likely there is another disorder simulating schizophrenia, such as epilepsy, infection, inborn errors of metabolism, porphyria, immunologic conditions, genetic (epigenetic) aberrations, and numerous others. Before treating this young person for schizophrenia, one must have the back-up or support of a comprehensive testing protocol (i.e., laboratory studies, neuroimaging results, genetic analyses, etc.). Always screen for suicidality as suicide is a persistent peril for individuals with psychosis.</div><div>As one provides psychopharmacologic products (i.e., mostly dopamine receptor antagonists) for this psychiatric problem, the medical and psychiatric health of the child or adolescent must be known in detail. The potential side effects (i.e., neurologic, extrapyramidal, metabolic, cardiac, others) of these current agents are disturbing to these young individuals and are reviewed along with management principles. Clozapin
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Pub Date : 2025-09-01DOI: 10.1016/j.disamonth.2025.101965
Neo Zhong Yi Benjamin , Rushin S. Parekh , Pugazhendi Inban , Sai Sakthi , Yogesh Tekuru , Priyadarshi Prajjwal , Jobby John , Renu Sharma
Background
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.
Objectives
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.
Methodology
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.
Results
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.
Conclusion
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.
背景：本系统综述探讨了纤维肌痛的病理生理学、生物标志物、遗传学见解和治疗策略，强调了中枢致敏、神经炎症、合并症以及多学科干预的有效性，包括药物和非药物治疗，以改善患者的预后和生活质量。目的：本研究旨在探讨纤维肌痛的病理生理学、诊断生物标志物、遗传见解和多系统参与。它还评估了药物和非药物治疗在改善疼痛、疲劳、睡眠质量和整体生活质量方面的有效性。方法：对2020 - 2025年纤维肌痛进行系统回顾，重点关注病理生理学、生物标志物、遗传学见解和治疗干预措施。研究根据PICO标准从PubMed、Web of Science、Scopus、Cochrane Library和b谷歌Scholar中选择。提取了有关机制、生物标志物、遗传因素、合并症、治疗和结果的数据。使用适当的工具对随机对照试验和非随机对照试验进行偏倚风险评估。最后的综述共纳入34项研究。结果：该系统综述揭示了不同治疗方式对纤维肌痛患者的显著改善。使用肌筋膜技术（MTA），疼痛、致敏和睡眠质量得到了更大的改善。从CES、s -氯胺酮、抗阻运动和治疗犬治疗中可以发现疼痛缓解、情绪健康改善和功能能力增强。在FIBROOut组中，精神和全身疲劳明显减少，表现出更大程度的疲劳和整体疲劳，而运动减轻了疲劳。所有组的睡眠质量均有改善，但MTA和CES的变化最为明显，PSQI评分从15.5±3.7分上升到12.2±4.8分。生物标志物的变化也被注意到，证实了这些方法的有效性。一般来说，多学科方法提供了纤维肌痛患者疼痛、疲劳和睡眠障碍的整体管理。结论：总之，本综述强调了FM病理生理学、相关生物标志物和遗传学以及治疗方案的不断发展的知识。它强调需要量身定制的多学科战略来解决综合征的复杂性。
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Pub Date : 2025-08-01Epub Date: 2025-06-20DOI: 10.1016/j.disamonth.2025.101966
Jerrold B Leikin
{"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":4.3,"publicationDate":"2025-08-01","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}
Pub Date : 2025-08-01Epub Date: 2025-06-21DOI: 10.1016/j.disamonth.2025.101967
David P Randall
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).
{"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":4.3,"publicationDate":"2025-08-01","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}
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