CONTINUUM Lifelong Learning in Neurology最新文献

Objective: This article reviews the palliative care needs of patients with primary and metastatic brain tumors and discusses the management of common symptoms associated with central nervous system tumors. It outlines the challenges and opportunities in providing palliative care for this population.

Latest developments: Patients with brain tumors generally have poor prognoses and have a high symptom burden. Neurologic symptoms affect not only physical function but also executive function and cognition. Most symptoms increase in the end-of-life phase and affect decision-making. Management of headaches, fatigue, seizures, and cognition can be challenging and is outlined in this article. Although the benefit of early palliative care for patients with systemic cancer is well established, how and when to integrate palliative care into the neuro-oncology pathway remains less understood. The use of palliative care and hospice in neuro-oncology remains underutilized.

Essential points: Patients with brain tumors have high morbidity. The symptom profile of this patient population is distinct and differs from the needs of patients with systemic cancers. Neuro-oncologists are in a good position to improve and sustain health-related quality of life by providing primary palliative care for this patient population. Early conversations about prognosis and advance care planning may help increase the use of palliative care and hospice.

Ethical decision-making in the care of neurologic patients is difficult because patient autonomy is often threatened early by aphasia, dementia, or the sudden development of a catastrophic illness. Complex questions of surrogate decision-making are frequent, and end-of-life issues such as withdrawal of life-sustaining care and brain death are ever-present. This article frames the approach to these common scenarios by rooting them in the principles of medical ethics and offering the practical guideline of the four-topic technique to inform decision-making. In more recent developments, the determination of brain death, or death by neurologic criteria, has been reexamined through the World Brain Death project, an international panel that is deciding on the clinical criteria needed to diagnose brain death.

Objective: Patients and their caregivers and families confronting dementia often face heavy burdens from difficult-to-control symptoms, uncertainty about the future, and a high risk of care partner burnout. This article explores common palliative care dilemmas in dementia care and reviews evidence-based approaches to management.

Latest developments: Research has recently accumulated about epidemiologic trends and racial disparities in dementia prevalence. Dementia-specific advance directives are being explored to help improve the ability of patients and their families to plan for the future. Although major breakthroughs have been elusive in the treatment of many common symptoms of dementia, research has further delineated the risks and benefits of many commonly used medications to guide routine clinical practice and added a few new options. Regarding deprescribing to limit polypharmacy in patients with dementia, new data about the mortality benefits of cholinesterase inhibitors must be weighed against the potential benefits of simplification. Additionally, research on survival in dementia has provided a more sophisticated tool to individualize prognostication for each patient.

Essential points: Dementia is a common and often highly burdensome disease process for patients, their caregivers and families, and the community at large. Palliating symptoms and providing guidance surrounding advance care planning and prognostication should be integral components of the management plan for patients with dementia in all settings.

Objective: Severe acute brain injury, including stroke, traumatic brain injury, and hypoxic-ischemic injury, presents acute and longitudinal challenges. This article emphasizes the need for holistic, long-term care and communication for patients and their care partners. It explores the multifaceted journey of survivors of severe acute brain injury and highlights the critical components required for effective management and support.

Latest developments: Recent advancements in the acute treatment of severe acute brain injury have significantly improved survival rates and reduced mortality. However, these advancements have also led to a growing population of survivors facing long-term challenges.

Essential points: Severe acute brain injury accounts for millions of deaths and disabilities annually. Severe acute brain injury presents significant challenges in the hyperacute period and should also be viewed as a lifelong condition requiring continuous support across the range of goals of care, from curative and restorative to palliative and end-of-life care. Addressing total pain involves managing physical symptoms and providing emotional, social, and spiritual support to enhance quality of life for patients and their families. Accurate diagnosis and informed treatment decisions are crucial, involving a multidisciplinary team and comprehensive care plans. Effective communication of prognosis and goals-of-care conversations are essential for preparing patients and families for the future. Compassionate care focusing on comfort and quality of life in the final stages is critical, with clear communication about end-of-life preferences.

Objective: Managing prognostic uncertainty is one of the great challenges in medicine, particularly in neurology. This article reviews the impact of prognostic uncertainty in neurologic diseases and strategies to help clinicians manage uncertain futures for patients and their families.

Latest developments: Prognostic uncertainty in neurology is intensified because of the variable illness trajectories both across and within different diseases, and it can be a barrier to accessing palliative care. The illness uncertainty experienced by patients and their families creates immense existential uncertainty, which is not well addressed by the health care system. Neurologists and health care teams can develop strategies and learn skills to manage this uncertainty by helping patients and families adaptively cope with difficult prognostic information. This approach requires intellectual humility and a deep appreciation of how individuals, including ourselves, maintain psychological equanimity when their existence is threatened.

Essential points: Managing prognostic uncertainty is one of the central tasks in neurology. By embracing uncertainty while cultivating prognostic awareness, neurologists will serve the critical role of creatively supporting patients and families through the living and dying process.

Objective: This article reviews the clinical elements, muscle involvement patterns, and diagnostic tools that can facilitate the diagnosis of muscle diseases, highlighting their heterogeneity and diagnostic challenges.

Latest developments: Increased access to genetic testing, the development of disease biomarkers, and research are expanding the spectrum of inherited and acquired muscle diseases. Muscle disease can exist in isolation or be part of a multisystem proteinopathy affecting other tissues outside skeletal muscle. Pathogenic variants in the same gene can lead to myopathy or peripheral neuropathy, in isolation or combination. This poses diagnostic challenges, especially when the myopathy manifests with distal weakness, mimicking a peripheral neuropathy. Therefore, diagnosis requires a rigorous characterization of the patient's phenotype and correlation with genetic findings. The ever-growing number of gene-specific and pathogenic variant-specific therapies, as well as drugs targeting pathogenic mechanisms of immune-mediated muscle diseases, underscore the importance of providing patients with a specific diagnosis to accelerate care and prevent potential complications. Artificial intelligence technologies in the neuromuscular field are further optimizing the diagnostic process and care of patients with muscle disease.

Essential points: Clinical assessment and the integration of clinical and laboratory findings remain key elements for the diagnosis and treatment of most muscle diseases. While genetic testing has replaced muscle biopsy in the diagnosis of many genetic myopathies, muscle biopsy remains crucial for the diagnosis of many acquired muscle diseases and is a tool to investigate the pathogenicity of genetic variants of uncertain significance and clarify disease mechanisms. All efforts should be made to provide patients with the diagnosis of their specific muscle disease as this has a huge impact on patient care and prognosis.

Objective: This article describes the clinical approach to rhabdomyolysis and the diagnosis and management of episodic disorders of skeletal muscle including skeletal muscle channelopathies.

Latest developments: New gene variants that cause periodic paralysis have been identified. While these are exceedingly rare, they are now included in relevant genetic testing panels. Dantrolene is emerging as an additional option for the treatment of severe muscle stiffness, along with typical sodium channel blockers in sodium channel myotonia. Deep phenotyping in Andersen-Tawil syndrome shows significant heterogeneity with new features such as fasciculations, pain, and fatigue. A normal screening ECG is insufficient to rule out a diagnosis of Andersen-Tawil syndrome. In patients with episodic weakness, Holter monitoring is required to further investigate the possibility of Andersen-Tawil syndrome. Growth/differentiation factor-15 and fibroblast growth factor 21 serve as biomarkers of mitochondrial myopathies and can point to a mitochondrial etiology in patients with rhabdomyolysis. This article also discusses recently identified genetic abnormalities associated with rhabdomyolysis and highlights the current approach for evaluating unprovoked rhabdomyolysis.

Essential points: Episodic disorders of skeletal muscles include skeletal muscle channelopathies and rhabdomyolysis. The genetic variants that underlie both disorders can also cause persistent and progressive muscle weakness. The availability and expanded use of genetic testing allow for the identification of new genes causing periodic paralysis and rhabdomyolysis. Diagnostic approaches are evolving due to easier access to and availability of genetic testing. Advances in diagnostic techniques have highlighted the lag in therapeutics for patients with these rare disorders.