Results 121 to 130 of about 38,738 (216)

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Cancer pain: current practice and emerging targets

British Journal of Pharmacology, EarlyView.
Cancer pain (CP) arises from a complex interplay between the tumour and its microenvironment. Many patients experience a mixed pain phenotype that encompasses nociceptive, neuropathic and neuroinflammatory mechanisms, and vary across tumour type and disease stage. Despite decades of intensive research, the mainstay of cancer pain treatment is still non‐
Yi Ye, Marcin Chwistek, Zhiting Gong, Vanessa Uzonwanne, Xiaojie Shi, Arpad Szallasi   +5 more
wiley   +1 more source

Rosemary metabolite carnosic acid opens Kv1.1 via its voltage sensor and corrects Kv1.1‐linked episodic ataxia in mice

British Journal of Pharmacology, EarlyView.
Background and Purpose Episodic ataxia type 1 (EA1) is an autosomal dominant neurological disorder caused primarily by loss‐of‐function mutations in the voltage‐gated potassium channel Kv1.1 (KCNA1). Small molecules that restore Kv1.1 activity hold promise as targeted therapies for EA1, yet current pharmacological strategies remain limited ...
Rían W. Manville, Ryan F. Yoshimura, Hanh A. Nguyen, Ruiming Zhao, Derk J. Hogenkamp, Steve A. N. Goldstein, Geoffrey W. Abbott   +6 more
wiley   +1 more source

Patch Testing in Paediatric Drug Hypersensitivity Reactions: Current Evidence and Clinical Implications

Contact Dermatitis, EarlyView.
ABSTRACT Drug hypersensitivity reactions (DHRs) are common in children and are diagnostically challenging, with cutaneous manifestations being the most common presentation. Patch testing (PT) is a well‐established tool for investigating delayed T‐cell‐mediated reactions and is widely used in patients with contact dermatitis.
Gabriele Simonetti, Francesco Catamerò, Giulia Liccioli, Leonardo Tomei, Simona Barni, Mattia Giovannini, Lucrezia Sarti, Francesca Mori   +7 more
wiley   +1 more source

Neuropathic pain in cerebral palsy and related genetic conditions: A scoping review of prevalence, characteristics, and management

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To map existing evidence on neuropathic pain in cerebral palsy (CP) and related genetic conditions, including prevalence, descriptors, assessment methods, and management. Method Following prospective registration, five databases (Ovid MEDLINE, Embase, CINAHL, Web of Science, Google Scholar) were searched in June 2025.
Aayushi Khillan, Sanya Verma, Hannah Yeomans, Karen Bau, Caitlin Doyle, Monica S. Cooper, David J. Amor, Carolyn Berryman, Adrienne Harvey   +8 more
wiley   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Is Hypercortisolism Treatable? Which Patients Should Be Treated and How—A Practical Guide for Clinicians

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aim To provide a practical guide on when to suspect endogenous hypercortisolism, how to use the overnight 1‐mg dexamethasone suppression test (DST) for targeted case‐finding, and which patients are most likely to benefit from treatment.
Juan Pablo Frias
wiley   +1 more source

Comparison of pharmacogenomic guidance in Australian prescribing resources and international pharmacogenomic guidelines

Internal Medicine Journal, EarlyView.
Abstract Background Pharmacogenomic‐guided medication management optimises drug therapy to enhance patient outcomes. Despite clinical utility, implementation in Australia remains limited, partly due to the lack of clear and consistent guidance. Aim This study evaluated the presence and consistency of pharmacogenomic testing indication categories and ...
Ruby Soueid, Jackson L. A. Thomas, Luke B. Hesson, Stephen Hughes, Sophie L. Stocker   +4 more
wiley   +1 more source

Correction to "Hydrodynamic Cavitation-Induced Breakage of Carbamazepine Dihydrate Crystals: Experimental Insights and Modeling". [PDF]

Ind Eng Chem Res
Swain S, Tiwari V, Ranade VV.
europepmc   +1 more source

Risk Factors and Management of Gingival Enlargement: A Systematic Review and Meta‐Analysis

Journal of Clinical Periodontology, EarlyView.
ABSTRACT Objective To identify risk factors/indicators of gingival enlargement (GE) and to summarise evidence for its management. Methods A systematic review was undertaken following PRISMA guidelines and divided into PECOTS and PICOTS questions, related to risk factors/indicators and treatment studies, respectively.
Luigi Nibali, Emily Ming‐Chieh Lu, Helvis E. S. Paz, Jing Kang, Nagihan Bostanci, Georgios N. Belibasakis   +5 more
wiley   +1 more source