Results 81 to 90 of about 178,329 (260)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Palliative Care Symposium: Promoting Joint Palliative Care

The Journal of the Royal College of Physicians of Edinburgh, 2011
Dr Lesley Colvin (Senior Lecturer in Anaesthesia, Western General Hospital, Edinburgh) discussed the challenges of pain management in patients with a history of addiction. Similar to other chronic conditions, substance misuse often follows a relapsing course. Pain is a frequently associated comorbidity.
openaire   +2 more sources

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

Shanghai expert consensus on the diagnosis and treatment of cancer pain (2026 edition)

Zhongguo aizheng zazhi
Pain is one of the common symptoms in patients with cancer. Inadequately controlled pain causes substantial suffering and severely impairs physical functioning, psychosocial well-being, and overall quality of life.
Committee of Cancer Rehabilitation and Palliative Care of Shanghai Anti-Cancer Association
doaj  

Functional goals and outcomes of rehabilitation within palliative care: a multicentre prospective cohort study

BMC Palliative Care
Background Rehabilitation is an integral component of palliative care. An understanding of functional goals can help tailor interventions and support the evaluation of services.
Matthew Maddocks, Lucy Fettes, Naomi Takemura, Joanne Bayly, Helena Talbot-Rice, Karen Turner, Rebecca Tiberini, Richard Harding, Fliss E.M. Murtagh, Richard J. Siegert, Irene J. Higginson, Stephen A. Ashford, Lynne Turner-Stokes   +12 more
doaj   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

Risk of Non‐Arteritic Anterior Ischemic Optic Neuropathy in Idiopathic Intracranial Hypertension Patients Treated with GLP‐1 Receptor Agonists

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) have demonstrated significant weight‐reducing effects and may offer benefits in idiopathic intracranial hypertension (IIH); however, recent concerns about the risk of non‐arteritic anterior ischemic optic neuropathy (NAION) have emerged.
Faisal A. Al‐Harbi, Mohanad A. Alkuwaiti, Yazeed B. Alaql, Ahmed K. Alsaif, Ahmed A. Alessa, Meshari Ayed Alharbi, Mohammed Alfalah, Saud A. Alnaaim, Sajjad M. AlHaddad, Ahmed Y. Azzam   +9 more
wiley   +1 more source

Identifying aspects of palliative and end-of-life care that are most important to people with lived experience and can be measured using routine data: a series of patient and public involvement workshops

Journal of Patient-Reported Outcomes
Background We aimed to identify which aspects of palliative and end-of-life care are most important to people with lived experience of life-limiting conditions and can be measured using routine data currently available in the UK.
Lesley E. Williamson, Georgina Macdonald, Joanna M. Davies, Rashmi Kumar, Margaret Ogden, Kamil Sterniczuk, Samina Begum, Mina Tanna, Peter May, Lorna K. Fraser, Fliss E. M. Murtagh, Irene J. Higginson, Katherine E. Sleeman   +12 more
doaj   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source