Results 31 to 40 of about 213,446 (314)

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

Post-sternotomy pain syndrome following cardiac surgery. case report [PDF]

, 2017
Over 2 million people undergo sternotomy worldwide for heart surgery each year, and many develop post-sternotomy pain syndrome (PSPS) which persists in the anterior thorax.
Bordoni, Bruno, Marelli, Fabiola, Morabito, Bruno, Sacconi, Beatrice, Severino, Paolo   +4 more
core   +2 more sources

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Multi-segment foot kinematics and plantar fascia strain during treadmill and overground running [PDF]

, 2014
Although physiologically beneficial, running is known to be associated with a high incidence of chronic injuries. Excessive coronal and transverse plane motions of the foot segments and strain experienced by the plantar fascia are linked to the ...
Sinclair, Jonathan Kenneth, Taylor, Paul John, Vincent, Hayley   +2 more
core  

The Female of \u3ci\u3eGraphoderus Manitobensis\u3c/i\u3e With Notes on Identification of Female \u3ci\u3eGraphoderus\u3c/i\u3e (Coleoptera: Dytiscidae) [PDF]

, 2017
Ten male and II female Graphoderus manitobensis were collected in April and May, 1980 and 1981 from a pond 16 kIn west of Madison, WI. Females can be distinguished from female G.
Hilsenhoff, William L, Tracy, Byrn H
core   +2 more sources

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Ultrasound-guided hydrodissection for occipital nerve entrapment in a collegiate football player: a case report

Discover Medicine
This case report presents the successful use of ultrasound-guided hydrodissection in treating prolonged concussion-like symptoms due to occipital nerve entrapment in a 23-year-old Division I collegiate football player.
Orsula Staka, Mahant Malempati, Tasfiqul Chowdhury, Allegra Ploeg, Chappell Evans, Irina Parau, Kelli Morrell, Jacques Courseault   +7 more
doaj   +1 more source

Reconstruction of the Lower Limb with Fasciocutaneous Flap of the Distal Pedicle - Modified Technique of Monteiro, Series of 15 Cases [PDF]

Revista Brasileira de Ortopedia
Objective To describe and demonstrate the outcomes of the modified Monteiro (1991) technique for lower limb reconstruction with a fasciocutaneous flap of the distal pedicle in a series of 15 cases.
Saulo Souto Montenegro, Antônio Carlos Costa, Robert Meves   +2 more
doaj   +3 more sources

Emergency Department Pain Management Following Implementation of a Geriatric Hip Fracture Program [PDF]

, 2017
Introduction: Over 300,000 patients in the United States sustain low-trauma fragility hip fractures annually. Multidisciplinary geriatric fracture programs (GFP) including early, multimodal pain management reduce morbidity and mortality. Our overall goal
Casey, Scott D, Hirsch, Calvin H, Mumma, Bryn E, Slee, Christina, Stevenson, Dane E, Tyler, Katren, Wolinsky, Philip R   +6 more
core   +4 more sources

Evaluation of a Novel Electric Health Record Sidecar Application to Display Rheumatoid Arthritis Clinical Outcomes During Clinic Visits: Results of a Stepped‐Wedge Cluster Randomized Pragmatic Trial

Arthritis Care &Research, EarlyView.
Objective We developed a novel electronic health record sidecar application to visualize key rheumatoid arthritis (RA) outcomes, including disease activity, physical function, and pain, via a patient‐facing graphical interface designed for use during outpatient visits (“RA PRO dashboard”).
Gabriela Schmajuk, Jing Li, Cathy Nasrallah, Cherish Wilson, Alicia Hamblin, Christine Hariz, Cammie Young, Stephen Shiboski, Emma Kersey, Mary Nakamura, Judith F. Ashouri, Mehrdad Matloubian, Andrew J. Gross, Jennifer Barton, Beth Berrean, Jonathan Prugh, Jinoos Yazdany   +16 more
wiley   +1 more source