Results 171 to 180 of about 220,364 (303)

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

CAUTION! Transitions ahead: politics, practice, and sustainable transition management [PDF]

, 2007
Shove, Elizabeth, Walker, Gordon
core   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Characterizing diversity of food systems in view of sustainability transitions. A review. [PDF]

Agron Sustain Dev, 2019
Gaitán-Cremaschi D, Klerkx L, Duncan J, Trienekens JH, Huenchuleo C, Dogliotti S, Contesse ME, Rossing WAH.   +7 more
europepmc   +1 more source

Just Sustainability Transitions

Annual Review of Environment and Resources
Facing the world's ecological, economic, and social challenges requires us to connect the concepts of justice, sustainability, and transitions. Bridging and discussing heterogeneous fields, we argue that these concepts need to complement each other, and we present just sustainability transitions (JUSTRAs) to do so.
Avelino, Flor, Wijsman, Katinka, van Steenbergen, Frank, Jhagroe, Shivant, Wittmayer, Julia, Akerboom, Sanne, Bogner, Kristina, Jansen, Esther F., Frantzeskaki, Niki, Kalfagianni, Agni   +9 more
openaire   +1 more source

Exploring Patients’ Profiles Associated With the Resolution of Acute Calcium Pyrophosphate Arthritis Treated With Colchicine and Prednisone: Post Hoc Analysis of a Randomized Controlled Trial

Arthritis Care &Research, EarlyView.
Objective The objective was to identify factors determining acute arthritis resolution and safety with colchicine and prednisone in acute calcium pyrophosphate (CPP) crystal arthritis. Methods We conducted a post hoc analysis of the COLCHICORT trial, which compared colchicine and prednisone for the treatment of acute CPP crystal arthritis, using a ...
Tristan Pascart, Laurène Norberciak, Pascal Richette, Pierre Robinet, Aurore Pacaud, Gauthier Marchasson, Thibault Rabin, Hélène Luraschi, Pierre Maciejasz, Anne‐France Georgel, Augustin Latourte, Hang‐Korng Ea, Sébastien Ottaviani, Charlotte Jauffret, Vincent Ducoulombier   +14 more
wiley   +1 more source

Mapping lock-ins and enabling environments for agri-food sustainability transitions in Europe. [PDF]

Sustain Sci
Williams TG, Bürgi M, Debonne N, Diogo V, Helfenstein J, Levers C, Mohr F, Stratton AE, Verburg PH.   +8 more
europepmc   +1 more source

Sense of place and experimentation in urban sustainability transitions: the Resilience Lab in Carnisse, Rotterdam, The Netherlands. [PDF]

Sustain Sci, 2018
Frantzeskaki N, van Steenbergen F, Stedman RC.   +2 more
europepmc   +1 more source

Temporal Trends in and Associations With Nonsteroidal Anti‐inflammatory Drug Prescription in Adult and Pediatric Patients With Inflammatory Bowel Disease

Arthritis Care &Research, EarlyView.
Objective Recent inflammatory bowel disease (IBD) treatment guidelines have recommended against nonsteroidal anti‐inflammatory drug (NSAID) use despite prevalent musculoskeletal symptoms and opioid overuse in this population. Given the discordance between changing national guidelines and potential clinical utility, we sought to assess national temporal
Adam S. Mayer, Rui Xiao, Andrew Grossman, Meenakshi Bewtra, Michael D. George, Pamela F. Weiss   +5 more
wiley   +1 more source

Trajectories of Physical Function in Canadian Children with Juvenile Idiopathic Arthritis

Arthritis Care &Research, Accepted Article.
Objectives We describe trajectories of physical function in children newly diagnosed with juvenile idiopathic arthritis (JIA) and identify trajectories with persisting functional impairments and associated baseline characteristics. Methods We included patients enrolled in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry ...
Clare Cunningham, Meghan McPherson, Lillian Lim, Roberta A. Berard, Matthew Berkowitz, Jean‐Philippe Proulx‐Gauthier, Brian M. Feldman, Nicole Johnson, Dax G. Rumsey, Heinrike Schmeling, Lori B. Tucker, Thomas Loughin, Kristin M. Houghton, Jaime Guzman, The CAPRI Registry Investigators   +14 more
wiley   +1 more source