Results 31 to 40 of about 184,419 (316)

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Fractures of the coronoid process: state of the art

Journal of Orthopaedics and Traumatology
Coronoid fractures are rarely isolated and are much more frequently associated with other osseous or ligamentous structures injuries. On the basis of the coronoid fracture patterns, described by the O’Driscoll classification, it is possible to recognize ...
Alessandro Marinelli, Marta Riva, Federico Coliva, Marco Minerba, Giuseppe Carbone, Enrico Guerra   +5 more
doaj   +1 more source

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Bilateral reverse shoulder arthroplasty: functional outcomes and technical considerations [PDF]

Clinics in Shoulder and Elbow
As the incidence of reverse total shoulder arthroplasty (RSA) continues to increase with its expanding indications, a growing number of patients are being considered for bilateral RSA.
Peter Boufadel, Ryan Lopez, Mohammad Daher, Jonathan Koa, Mohamad Y. Fares, Jie J. Yao, Joseph A. Abboud   +6 more
doaj   +1 more source

Integration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma, Nathan Pavey, Yukiko Tsuji, Amirul Ab Ghapar, Mehdi A.J. van den Bos, Bronwen Orden, Grace Lee, Linda Mekhael, Julie Ryder, Cláudia Santos Silva, David McDonald, Fakhria Kakar, Con Yiannikas, Matthew C. Kiernan, David A. Brown, Parvathi Menon, Steve Vucic   +16 more
wiley   +1 more source

Validation of the Pediatric Arthritis Ultrasound Scoring System for the Elbow, Wrist, and Finger Joints in Children With Juvenile Idiopathic Arthritis

Arthritis Care &Research, EarlyView.
Objective We aimed to validate the Pediatric Arthritis Ultrasound Scoring System (PAUSS) for upper extremity joints in children with juvenile idiopathic arthritis (JIA). Methods Children with JIA were evaluated for elbow, wrist, or finger arthritis by clinical examination (CE) and musculoskeletal ultrasound (MSUS) with images scored according to the ...
Patricia Vega‐Fernandez, Pinar Ozge Avar‐Aydin, Kelly Rogers, Daniel J. Lovell, Jennifer Huggins, Alexei Grom, Hermine I. Brunner, Grant S. Schulert, Sheila T. Angeles‐Han, Mekibib Altaye, Amy Cassedy, Arthur B. Meyers, Tracy V. Ting   +12 more
wiley   +1 more source

Optimizing post-surgical outcomes: unveiling the importance of patient-reported outcomes with insights from the schulthess local shoulder arthroplasty registry

BMC Musculoskeletal Disorders
Objective The establishment of clinical registries is essential for the comprehensive evaluation of surgical outcomes. In 2006, the Schulthess Shoulder Arthroplasty Registry (SAR) was launched to systematically assess safety, implant longevity ...
Asimina Lazaridou, Tim Schneller, Florian Freislederer, Philipp Moroder, Markus Scheibel   +4 more
doaj   +1 more source

Machine learning in shoulder arthroplasty: a systematic review of predictive analytics applications

Bone & Joint Open
Aims: Machine learning (ML) holds significant promise in optimizing various aspects of total shoulder arthroplasty (TSA), potentially improving patient outcomes and enhancing surgical decision-making. The aim of this systematic review was to identify ML
Tim Schneller, Moritz Kraus, Jan Schätz, Philipp Moroder, Markus Scheibel, Asimina Lazaridou   +5 more
doaj   +1 more source