Results 171 to 180 of about 1,387,679 (310)

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

Clinical Practice Guideline: Psychotherapies for Somatoform Disorders

Indian Journal of Psychiatry, 2020
Vivek Agarwal, Anil Nischal, Samir Kumar Praharaj, Vikas Menon, Sujita Kumar Kar   +4 more
doaj   +1 more source

Incorporating economic considerations in clinical practice guideline development: a scoping review. [PDF]

BMC Health Serv Res
Nkonki L, Bango F, Vorster P, Arikpo D, Manthalu G, Brand A, Kredo T.   +6 more
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

A clinical practice guideline for tuberculous meningitis. [PDF]

Lancet Infect Dis
Donovan J, Cresswell FV, Tucker EW, Davis AG, Rohlwink UK, Huynh J, Solomons R, Seddon JA, Bahr NC, van Laarhoven A, Anderson ST, Jain SK, Chow FC, Pattison S, Scriven JE, Singh G, Aarnoutse RE, Alffenaar JC, Dian S, Manesh A, Basu Roy R, Singh V, van Toorn R, Upton CM, van Crevel R, Dooley KE, Gibb D, Meya D, Wilkinson RJ, Rogozińska E, Misra UK, Figaji A, Thwaites GE.   +32 more
europepmc   +1 more source

Management of Postoperative Pain: A Clinical Practice Guideline From the American Pain Society, the American Society of Regional Anesthesia and Pain Medicine, and the American Society of Anesthesiologists' Committee on Regional Anesthesia, Executive Committee, and Administrative Council.

Journal of Pain, 2016
R. Chou, D. Gordon, O. De Leon-Casasola, J. Rosenberg, S. Bickler, T. Brennan, Todd E Carter, Carla Cassidy, E. Chittenden, Ernest F. Degenhardt, S. Griffith, R. Manworren, B. Mccarberg, Robert Montgomery, J. Murphy, M. Perkal, S. Suresh, K. Sluka, S. Strassels, R. Thirlby, E. Viscusi, G. Walco, Lisa Warner, S. Weisman, Christopher L. Wu   +24 more
semanticscholar   +1 more source

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

Editorial: Thyroid nodule evaluation: current, evolving, and emerging tools

Frontiers in Endocrinology, 2023
Jeffrey R. Garber, Jeffrey R. Garber, Jeffrey R. Garber, Andrea Frasoldati, Vivek Patkar, Enrico Papini   +5 more
doaj   +1 more source

Uveal melanoma: ESMO-EURACAN Clinical Practice Guideline for diagnosis, treatment and follow-up. [PDF]

ESMO Open
Piperno-Neumann S, Angi M, Ascierto PA, Baurain JF, Burgmans MC, Cassoux N, Coupland SE, Dendale R, Fortuna A, Gastaud L, Gutierrez-Miguelez C, Heegaard S, Jager MJ, Kapiteijn E, Keilholz U, Kilic E, Marinkovic M, Moulin A, Nathan P, Patel SP, Pica A, Piulats JM, Ryll B, Sacco JJ, Sauerwein W, Schlaak M, Stedman B, Valente A, Verdijk RM, Verhoef C, Michielin O, ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org.   +31 more
europepmc   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source