Results 91 to 100 of about 2,143,667 (228)

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

Element 3 Chairs and Course List Core General Education Assessment, 2017-2018

, 2018
The Chairs and Course List for Element 3 - Interdisciplinary Global Studies as part of the institution’s ongoing general education Core assessment ...
Undergraduate Core Oversight Committee, Wright State University
core   +2 more sources

Element 4 Letter to Chairs from UCOC Core General Education Assessment, 2023-2024

, 2023
The Letter to Chairs from UCOC for Element 4 - Arts/Humanities as part of the institution’s ongoing general education Core assessment ...
Undergraduate Core Oversight Committee, Wright State University
core   +1 more source

Anesthesia Management of an Emergent Caesarean Section Case with the History of Central Core Myopathy: Case Report

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013
Central core myopatyhy is a rarely seen hereditary neuromuscular disorder that is involved in congenitally myopathies group. The disease is characterized by muscular weakness, skeleton system deformities, increased malign hyperthermia sensitivity and ...
Cagla Bali, Pinar Ergenoglu, Sule Akin, Anis Aribogan   +3 more
doaj  

Diagnostic Performance of the Strength-Duration Test for Bedside Screening of Critical Illness Polyneuropathy and/or Myopathy: A Prospective, Cross-Sectional Study. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Critical illness polyneuropathy and/or myopathy (CIP/CIM) is a major cause of weakness in the intensive care unit (ICU). The availability of conventional electrodiagnostic testing may be limited. Alternative electrophysiologic methods, including the strength‐duration test (SDT) and the stimulus electrodiagnosis test (SET ...
Macedo JRD, Fachin-Martins E, Rodrigues MM, de Carvalho MR, Fernandez RNM, Silva PE.   +5 more
europepmc   +2 more sources

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Enabling Functional Independence: A Scoping Review of Upper Extremity Assistive Devices for Adults With Progressive Neuromuscular Diseases

Muscle &Nerve, EarlyView.
This scoping review summarizes the spectrum of upper extremity assistive devices for adults with progressive neuromuscular diseases, ranging from low‐tech supports to advanced robotics, exoskeletons, and brain‐computer interface systems. While these technologies show promise for improving enabling function, current evidence is largely limited to ...
Katherine M. Burke, Stephanie Johnson, Kayla Chomko, Angela Escalante, Kendall C. Hall, Melis Lydston, Courtney Uek, Gabriella Casagrande, Hyun Jung Kim, James Arnold, David Pont‐Esteban, Harrison Young, Conor Walsh, Sabrina Paganoni   +13 more
wiley   +1 more source

Construct Validity and Reliability of the OMNI Scale in Children and Adolescents With Neuromuscular Diseases

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Children and adolescents with neuromuscular diseases often demonstrate muscle weakness and mobility limitations, which may increase perceived exertion during functional tasks. The OMNI scale was developed to assess perceived exertion in pediatric populations; however, its measurement properties in neuromuscular conditions ...
Juliana Cardoso, Clara Corsete Tonoli, Beatriz Parra Buzzetti, Gabriela Barroso Davoli, Ana Claudia Mattiello‐Sverzut   +4 more
wiley   +1 more source

Spinal Deformity in Congenital Myopathies

Indian Spine Journal
Congenital myopathy (CM) is a group of rare genetic disorders characterized by hypotonia, hyporeflexia, and weakness present at birth. The condition is estimated to affect between 0.7 and 4.4 per 100,000 children.
Thomas Coleman, Patrick J. Cahill
doaj   +1 more source

Assessing physiological, behavioral and movement responses to Suprelorin implant delivery methods in free‐ranging eastern grey kangaroos Macropus giganteus

Wildlife Biology, EarlyView.
Overabundant populations of eastern grey kangaroos Macropus giganteus in peri‐urban areas pose ecological and social challenges. Current management strategies are often hindered by animal welfare and logistical concerns. This study aimed to assess stress responses of kangaroos to two contraceptive delivery methods.
Fabiola R. O. Silva, Sebastien Comte, Tamara Keeley, Maquel Brandimarti, Catherine A. Herbert   +4 more
wiley   +1 more source