Results 101 to 110 of about 78,494 (263)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 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

Evaluation of Dried Plasma Spot‐Based Quantification of Glial Fibrillary Acidic Protein as a Disease‐Associated Biomarker in Neuromyelitis Optica Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the diagnostic accuracy of glial fibrillary acidic protein (GFAP) measured in dried plasma spots versus conventional plasma‐ and serum‐GFAP testing for assessment of disease severity in aquaporin‐4 immunoglobulin G–positive neuromyelitis optica spectrum disorder (AQP4‐IgG+ NMOSD).
Felix Wohlrab, Evelyn Alvarez, Roua Hamdi, Bingqing Zhang, Hayeun Ji, Niyati Jhaveri, Patrick Schindler, Pedro Sanchez, Pia S. Sperber, Tanja Schmitz‐Hübsch, Frederike C. Oertel, Nisa Vorasoot, Najib Kissani, Falko Böhringer, Jens Kuhle, Anne‐Katrin Pröbstel, Xiao‐Jun Ma, Péter Körtvelyessy, Patrick Waters, Friedemann Paul   +19 more
wiley   +1 more source

Endothelial Cell Proteins as Biomarkers in Susac Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Susac syndrome (SS) is a rare CD8+ T cell–mediated microangiopathy affecting the brain, retina, and auditory labyrinth. Endothelial injury is thought to be a central mechanism; however, no circulating disease biomarkers are known. We performed targeted proteomic profiling to identify circulating endothelial‐associated proteins as ...
Rohit Benjamin, Yue Andy Qi, Ying Hao, Catherine DeMarino, Samuel Darko, Irene Cortese, Daniel S. Reich, María I. Gaitán, Steven Jacobson, Bridgett J. Billioux, Bryan Smith, Avindra Nath   +11 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Associations of Sleep and Shift Work With Osteoarthritis Risk

Arthritis Care &Research, EarlyView.
Objective Daily rhythms may be critical for maintaining homeostasis of joint tissues. We aimed to investigate the relationships among circadian clock disruption, sleep, and osteoarthritis (OA) risk in humans. Methods In the UK Biobank, a prospective 500,000–person cohort, we evaluated associations among sleep duration, sleeplessness/insomnia, and shift
Elizabeth L. Yanik, Abigail Bridgeman, Erik D. Herzog, Vy Pham, Bradley A. Evanoff, Farshid Guilak   +5 more
wiley   +1 more source

Dental Surgeries in Hospitals and Surgery Centers for Children With Developmental Disabilities. [PDF]

Hosp Pediatr
Rancaño KM, Zhao X, Munnich E, Whaley C, Lee JY, Kranz AM.   +5 more
europepmc   +1 more source

New Onset of Fibromyalgia After Exposure to a Combat Environment: A Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective Traumatic life events are hypothesized to be triggers for the onset of fibromyalgia. Posttraumatic stress disorder (PTSD) is a common comorbidity of fibromyalgia. However, limited prospective data are available on the development of fibromyalgia after exposure to high‐magnitude stress.
Jay B. Higgs, Willie J. Hale, Casey L. Straud, Jim Mintz, Stacey Young‐McCaughan, Kimberly D. Gomes, Chelsea J. Sterne, Katrina M. Lawrence‐Wolff, Alan J. Bartholomew, Kevin M. Kelly, Douglas M. Maurer, Catherine Vriend, Brett T. Litz, Douglas E. Williamson, Alan L. Peterson, for the STRONG STAR Consortium   +15 more
wiley   +1 more source

Formal and Informal Social Care in People With Rheumatic and Musculoskeletal Diseases: A Cross‐Sectional Multicenter Survey

Arthritis Care &Research, EarlyView.
Objective Rheumatic and musculoskeletal diseases (RMDs) are leading causes of physical disability, necessitating support with activities of daily living. This study describes social care received by patients with RMDs in two disparate regions of England: Salford (urban) and Norfolk (rural).
Mehreen Somro, Karen Durrant, William G. Dixon, John McBeth, Alex MacGregor, Max Yates, Jenny H. Humphreys   +6 more
wiley   +1 more source

High Health Care Utilization Preceding Diagnosis With Juvenile Idiopathic Arthritis

Arthritis Care &Research, EarlyView.
Objective Although early diagnosis improves long‐term outcomes, patients with juvenile idiopathic arthritis (JIA) often experience prolonged, circuitous paths to diagnosis. To inform diagnostic improvement, we sought to characterize health care utilization in the year preceding diagnosis. Methods We identified 10,021 patients with an incident diagnosis
Anna Costello, Rui Xiao, Xuemei Zhang, Jahan Jazayeri, Irit R. Rasooly, Pamela F. Weiss   +5 more
wiley   +1 more source