Results 41 to 50 of about 234,030 (235)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Vasculite e padrão de panbronquiolite difusa no lúpus eritematoso sistémico â Caso clínico

Revista Portuguesa de Pneumologia, 2007
Resumo: O compromisso visceral pelo lúpus eritematoso sistémico (LES) estende-se para além do rim e da pele. Lesões pleuropulmonares são reconhecidas e as for-mas de destruição alveolar difusa e hemorragia alveolar são as mais difíceis de controlar.
Lina Carvalho, Sara Freitas
openaire   +1 more source

Modeling Progressive Brain Volume Losses in Chronic Moderate Severe Traumatic Brain Injury: Extensive, but Attenuating

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive brain atrophy has now been widely observed in the chronic stages of moderate–severe traumatic brain injury (msTBI), but there is only coarse information regarding its prevalence and magnitude, and whether rate of atrophy accelerates or attenuates across time. We examined these questions in a Canadian inception cohort from
Robin E. A. Green, Brenda Colella, Alana Changoor, David J. Mikulis, Adrienne Li, Kadeen Johns, Georges A. Monette   +6 more
wiley   +1 more source

As Manifestações orais do lúpus eritematoso sistêmico [PDF]

, 2023
O Lúpus Eritematoso Sistêmico é uma doença autoimune crônica de caráter heterogêneoque acomete vários órgãos internos do corpo. Sua incidência maior é em mulheres adultas em idadefértil.
Zanchin, Julia, Passoni, Guiliene Nunes de Souza   +1 more
core  

Frequency and Phenotype of Coexisting Aquaporin‐4 and Autoimmune Encephalitis Autoantibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Among 9457 aquaporin‐4 (AQP4) immunoglobulin G‐positive patients, 2071 underwent autoimmune encephalitis antibody testing and 85 (4%) had coexisting antibodies, most commonly cerebrospinal fluid glial fibrillary acidic protein‐IgG and N‐methyl‐D‐aspartate receptor‐IgG, or serum high‐titer GAD65‐IgG.
Laura Cacciaguerra, Binxia Yang, Vanda A. Lennon, Shruti P. Agnihotri, Nusrat Ahsan, Karen S. Fernandez, Erin McLeod, Georgios Mangioris, William R. Meador, Wendy G. Mitchell, Jacqueline A. Nicholas, Amy M. L. Quek, Thomas Shoemaker, Kurt Sieloff, Matt C. Edmond, Rebekah A. Laggis, Kristin L. Flynn, Jessica A. Sagen, Emmanuelle Waubant, John J. Chen, Sarosh R. Irani, Andrew McKeon, Anastasia Zekeridou, Eoin P. Flanagan, Sean J. Pittock, Amy Kunchok   +25 more
wiley   +1 more source

Discordance Between Patient and Physician Global Assessments in Early Systemic Sclerosis

Arthritis Care &Research, EarlyView.
Objective This study aims to identify factors associated with patient global assessment (PtGA) and physician global assessment (PhGA) and discordance between them in systemic sclerosis (SSc). Methods Data from adults with early SSc (<5 years) from the Collaborative National Quality and Efficacy Registry were included.
Ellen Romich, Alexis Ogdie, Alisa Stephens Shields, Peter A. Merkel, Shervin Assassi, Elana J. Bernstein, Andreea Bujor, Flavia V. Castelino, Lorinda Chung, Luke B. Evnin, Tracy M. Frech, Jessica K. Gordon, Melissa Griffith, Faye N. Hant, Monica L. Harding, Laura K. Hummers, Dinesh Khanna, Kimberly S. Lakin, Dorota J. Lebiedz‐Odrobina, Yiming Luo, Ashima Makol, Maureen D. Mayes, Zsuzsanna H. McMahan, Jerry Molitor, Duncan F. Moore, Julie Paik, Carrie Richardson, Brian Skaug, Ami A. Shah, Ankoor Shah, Virginia Steen, John M. VanBuren, Elizabeth R. Volkmann, Carleigh Zahn, Nora Sandorfi, for the CONQUER Investigators   +35 more
wiley   +1 more source

Artificial Intelligence–Based Online Symptom Assessment Tools for Systemic Lupus Erythematosus Diagnosis: Patient Perspectives

Arthritis Care &Research, EarlyView.
Objective The objective of this article is to identify perceptions of patients with systemic lupus erythematosus (SLE) regarding artificial intelligence (AI)–based online symptom assessment tools, and the potential of these tools to address diagnostic barriers.
Olivia A. Stein, Jennifer L. F. Lee, Evelyne Vinet, Arielle Mendel, Christian A. Pineau, Fares Kalache, Louis‐Pierre Grenier, Sasha Bernatsky   +7 more
wiley   +1 more source

Bloqueio Atrioventricular Total por Lúpus Eritematoso Neonatal

Journal of Cardiac Arrhythmias, 2000
Os autores relatam o caso de uma criança, cuja mae era portadora de Lupus Eritematoso Sistêmico. Já no oitavo mês de gestaçao, o obstetra detectou uma importante bradicardia fetal. No nono mês, a criança nasceu com bloqueio atrioventricular total (BAV) e
Celso Salgado de MELO, Hamid Alexandre CECIN, Andréa Costa de ALMEIDA, Otaviano SILVA JR, Jother Soares MACHADO, Juliano Cândido BATISTA, Mateus Alexandre A. S. DAMASCENO, Mateus ZAPAROLI, Ricardo Nilsson SGARBIERI   +8 more
doaj   +4 more sources

O que é Lúpus Eritematoso? [PDF]

, 2015
Resposta sistematizada, com base em revisão bibliográfica, sobre Lúpus Eritematoso Sistêmico (LES), doença multissistêmica crônica que afeta mais comumente mulheres durante seus anos ...
Núcleo Telessaúde Estadual do Rio Grande do Sul
core  

Race and Household Income Are Associated With Disease Outcomes in Pediatric Patients With Antineutrophil Cytoplasmic Antibody–Associated Vasculitis Hospitalized in the United States

Arthritis Care &Research, EarlyView.
Objective Race and household income impact outcomes in patients with rheumatic conditions; however, their role in pediatric antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) remains poorly understood. We aimed to evaluate whether race and ethnicity and household income are associated with severe AAV disease and renal outcomes among
Roberto Alejandro Valdovinos, William Daniel Soulsby III, Emily von Scheven   +2 more
wiley   +1 more source