Results 191 to 200 of about 94,901 (284)

Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature

Epilepsia Open, EarlyView.
Abstract Objective Sialidosis type I (ST‐1) is an autosomal‐recessive, very rare, progressive lysosomal storage disorder caused by pathogenic variants in NEU1. It is clinically characterized by progressive ataxia, myoclonic seizures (MS), bilateral tonic–clonic seizures (BTCS), and distinctive ophthalmological findings.
Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pablo Mir, Andreas Merkenschlager, Antonietta Coppola   +15 more
wiley   +1 more source

Evaluating Clinical Practice: An Audit of Ophthalmologic Findings in Patients With Head and Neck Diseases in Otorhinolaryngology. [PDF]

Cureus
Khurshied S, Shah HG, Chohan SA, Khan MS, Nisa M, Zahid MA.   +5 more
europepmc   +1 more source

Calcitonin gene‐related peptide concentration in cerebrospinal fluid and serum in horses affected by trigeminal‐mediated headshaking

Equine Veterinary Journal, EarlyView.
Abstract Background Trigeminal‐mediated headshaking (TMHS) in horses shares clinical features with human trigeminal neuralgia (HTN). Increased levels of the neuropeptide calcitonin gene‐related peptide (CGRP) have been found in the blood and cerebrospinal fluid (CSF) of HTN patients. Inhibition of CGRP in humans has shown promise for pain relief.
Lisa Annabel Weber, Hilke Oltmanns, Ludovica Chiavaccini, Kirstie J. Pickles, Veronica Roberts, Tanja Kloock, Tobias Niebuhr, Karsten Feige   +7 more
wiley   +1 more source

Wide-Field Imaging of Retinal Vascular Macroaneurysm Associated With Retinal Racemose Hemangioma. [PDF]

Case Rep Ophthalmol Med
Katsura Y, Fukuyama H, Gomi F.
europepmc   +1 more source

A Survey on Medical Competence Evaluation Benchmarks for Large Language Models

Health Care Science, EarlyView.
Our study presents a comprehensive review of the established methodologies and benchmarks for evaluating the medical competence of LLMs, encompassing a thorough analysis of current assessment practices across medical knowledge, clinical practice competence, and ethical–safety considerations.
Qiting Wang, Huiru Zou, Haobin Zhang, Yongshun Huang, Junzhang Tian, Weibin Cheng   +5 more
wiley   +1 more source

Artificial intelligence-generated informed patient consent in various ophthalmological procedures: A comparative study of correctness, completeness, readability, and real-word application between Deepseek and Chatgpt 4o. [PDF]

Indian J Ophthalmol
Das D, Chawla B, Lomi N, Tomar P, Herle A, Joshi S.   +5 more
europepmc   +1 more source

Genomic and Immune Correlates of EZH2 Expression and Activity in Olfactory Neuroblastoma

Head &Neck, EarlyView.
ABSTRACT Purpose Olfactory neuroblastoma (ONB) is a rare sinonasal malignancy with limited therapeutic options in the recurrent/metastatic setting; little is known regarding its responsiveness to immunotherapy. Inhibition of enhancer of zeste homolog 2 (EZH2) has been shown to improve T‐cell‐mediated killing and susceptibility to immune checkpoint ...
Elisabetta Xue, Tolulope Adeyelu, Harris Krause, Andrew Elliott, Ranee Mehra, Heloisa Soares, Emil Lou, Ari Vanderwalde, David Spetzler, Dara Bracken‐Clarke, Nyall R. London Jr., James L. Gulley, Charalampos S. Floudas   +12 more
wiley   +1 more source

Quality of Life After Surgical Treatment of Head and Neck Paragangliomas

Head &Neck, EarlyView.
ABSTRACT Background Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors and often arise in the head and neck. Due to their localization, the tumor and its surgical treatment pose a risk for cranial nerve impairments. Few studies have focused on the health‐related quality of life (HRQOL) in patients with HNPGLs and their relation to ...
Christina Sauter, Philipp Erhart, Dittmar Böckler, Patrick Schuler, Peter K. Plinkert, Ralph Hohenberger   +5 more
wiley   +1 more source

Eye involvement in a series of 94 young patients with congenital ichthyosis: Importance of early ophthalmological referral. [PDF]

JAAD Int
Blanco-Calvo N, Núñez-Reiz A, Vals-Ferrán I, Malhotra R, Hernández-Martín A.   +4 more
europepmc   +1 more source

Dental Rehabilitation After Bone Mandibular Reconstruction for Head and Neck Cancer: A GETTEC Multicenter Study

Head &Neck, EarlyView.
ABSTRACT Background The microvascular bone free flap (MBFF) is the preferred reconstruction after mandibular resection as it facilitates secondary dental rehabilitation. Methods In this multicenter study, patients were included if treated between January 2017 and January 2022 for head and neck cancer with MBFF reconstruction.
Lise‐Marie Roussel, Roxane Elaldi, Marine Anquetil, Emilie Lévêque, Emmanuel Babin, Alexandre Bozec, Audrey Lasne Cardon, Alexandre Boulay, Maud Le Guyader, Sébastien Thureau, Esteban Brenet, Florian Clatot   +11 more
wiley   +1 more source