Results 81 to 90 of about 90,019 (314)

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Paraplegia aguda por compressão da medula espinhal torácica causada por tofo gotoso Acute paraplegia resulting from spinal cord compression by tophaceous gout

Revista Brasileira de Reumatologia, 2007
O acometimento axial pela gota é um evento raro, e o envolvimento da coluna torácica foi descrito em apenas 17 casos na literatura. Apresentamos um caso de paciente do sexo masculino de 48 anos com história de gota, sob tratamento irregular com ...
Eduardo Massato Hasegawa, Claudia Goldeinstein-Schainberg, Ricardo Fuller   +2 more
doaj   +1 more source

Application of International Classification of Functioning, Disability and Health (ICF) in individuals with spinal cord injury

Arquivos de Neuro-Psiquiatria, 2011
After spinal cord injury is common functionality is affected. OBJECTIVE: To evaluate the functionality of patients with spinal cord injury. METHOD: Cross-sectional study by means of the International Classification of Functionality (ICF). 109 adults with
Janaina Vall, Carlos Mauricio de Castro Costa, Laura França Pereira, Tatiane Temmy Friesen   +3 more
doaj   +1 more source

Endovascular repair for acute traumatic transection of the descending thoracic aorta: experience of a single centre with a 12-years follow up [PDF]

, 2015
Background: Most blunt aortic injuries occur in the proximal proximal descending aorta causing acute transection of this vessel. Generally, surgical repair of the ruptured segment of aorta is associated with high rates of morbidity and mortality and in
Butrico, L, de Franciscis, S, GRANDE, RAFFAELE, Indolfi, C, Mastroroberto, P., Perri, P, Serra, R   +6 more
core   +2 more sources

Clinical Outcome Assessments for Functional Performance in Spastic Paresis: Systematic Review, Critique, and Recommendations

Movement Disorders, EarlyView.
Abstract Background Spastic paresis, resulting from central nervous system lesions, significantly impairs functional performance. In the framework of the International Classification of Functioning, Disability, and Health, functional performance was defined as functioning at the activity level in relation to the impairment of body functions and ...
Martina Hoskovcova, Marjolaine Baude, Bo Biering‐Sørensen, Ota Gal, Mary P Galea, Jean‐Michel Gracies, Carmen Rodriguez‐Blazquez, Theodore Wein, Michelle Hyczy de Siqueira Tosin, Álvaro Sánchez‐Ferro, Tiago A Mestre, Matej Skorvanek, Robert Jech, The members of the MDS Clinical Outcome Assessments Scientific Evaluation Committee and MDS Spasticity Study Group   +13 more
wiley   +1 more source

Comparison of clinical signs and outcomes between dogs with presumptive ischemic myelopathy and dogs with acute non compressive nucleus pulposus extrusion [PDF]

, 2016
OBJECTIVE To compare clinical signs and outcomes between dogs with presumptive ischemic myelopathy and dogs with presumptive acute noncompressive nucleus pulposus extrusion (ANNPE). DESIGN Retrospective study. ANIMALS 51 dogs with ischemic myelopathy and
De Decker, S, Drees, R, Fenn, J T, Volk, H A   +3 more
core   +3 more sources

The Investigation of Genetic and Clinical Features in Patients with Hereditary Spastic Paraplegia in Central-Southern China [PDF]

, 2020
Chen Wang, Yunjian Zhang, Cihao Xu, De Li, Zhijun Liu, Yan Wu   +5 more
openalex   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

Awake rabbit model of ischemic spinal cord injury with delayed paraplegia: The role of ambient temperature

Animal Models and Experimental Medicine
Background Paraplegia after spinal cord ischemia is a devastating condition in the clinic. Here, we develop an awake rabbit model of spinal cord ischemia with delayed paraplegia and explore the influence of ambient temperature on the outcomes after ...
Wang Yang, Qian‐qian Wu, Lu Yang, Yu‐jie Chen, Ren‐qing Jiang, Ling Zou, Qing‐shan Liu, Guang‐you Shi, Jiang Cao, Xiao‐chao Yang, Jian Sun   +10 more
doaj   +1 more source

The Impact of Subordinate Disability on Leader-Member Exchange Relationships [PDF]

, 2001
[Excerpt] An organizational simulation (n = 85) and a field study (41 supervisors and 220 subordinates) were conducted to investigate the impact of subordinates\u27 disability status on leader-member exchange (LMX) relationships.
Colella, Adrienne, Varma, Arup
core   +2 more sources