Results 141 to 150 of about 8,353,130 (346)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Evaluation of the Performance of an Ocular Surface Modulator Containing ST-Lysyal Versus Hyaluronic Acid Eyedrops in Patients with Dry Eye Disease: A Pilot Study

Ophthalmology and Therapy
Introduction Dry eye disease (DED) is a multifactorial condition of the ocular surface, primarily treated with tear substitutes, which do not fully restore natural tear functions.
Stefano Barabino, Andrea Rosa, Sara Marini, Carlo Domenico Bianchi, Maurizio Rolando   +4 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Common and Important ocular surface conditions

, 2017
Poster of common and important ocular surface ...
Jeremy Hoffman, Matthew Burton
core  

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

Case report: Two-step lamellar keratoplasty for alkali burns

Frontiers in Medicine
PurposeTo report a case of a patient with ocular surface alkali burn who developed corneal perforation before entering a stable phase. This patient was treated with a custom-designed lamellar graft using a Two-Step lamellar keratoplasty (LK) after 3 ...
Xie Fang, Xie Fang, Xie Fang, Xie Fang, Xie Fang, Xie Fang, Zhiwen Xie, Zhiwen Xie, Zhiwen Xie, Zhiwen Xie, Zhiwen Xie, Zhiwen Xie, Shunrong Luo, Shunrong Luo, Shunrong Luo, Shunrong Luo, Shunrong Luo, Shunrong Luo, Xianwen Xiao, Xianwen Xiao, Xianwen Xiao, Xianwen Xiao, Xianwen Xiao, Xianwen Xiao, Zhengwei Yang, Zhengwei Yang, Zhengwei Yang, Zhengwei Yang, Zhengwei Yang, Zhengwei Yang, Yuan Lin, Yuan Lin, Yuan Lin, Yuan Lin, Yuan Lin, Yuan Lin, Huping Wu, Huping Wu, Huping Wu, Huping Wu, Huping Wu, Huping Wu   +41 more
doaj   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

Vector analysis valuation of astigmatism in the cornea after femtosecond laser-assisted corneal astigmatism incision in cataract surgery

BMC Ophthalmology
Background The aim of this article is to evaluate the effectiveness of anterior penetrating femtosecond laser-assisted astigmatism keratotomy (FS-AK) using vector analysis.
Dan Yang, Shifeng Fang, Yi Yang, Ning Bao, Pin Zuo, Shujie Miao, Xinxia Xue, Jixin Zou   +7 more
doaj   +1 more source

Single cell analysis of short-term dry eye induced changes in cornea immune cell populations

Frontiers in Medicine
BackgroundDry eye causes corneal inflammation, epitheliopathy and sensorineural changes. This study evaluates the hypothesis that dry eye alters the percentages and transcriptional profiles of immune cell populations in the cornea.MethodsDesiccating ...
Jehan Alam, Ebru Yaman, Gerda Cristal Villalba Silva, Rui Chen, Cintia S. de Paiva, Mary Ann Stepp, Stephen C. Pflugfelder   +6 more
doaj   +1 more source

Heightened visual light sensitivity discomfort measured by the ocular photosensitivity analyzer is associated with chronic ocular pain

To quantify visual photosensitivity discomfort thresholds (VPDT) in individuals with chronic ocular pain (COP) compared to controls without COP and explore relationships between VPDT, demographics, clinical factors, and ocular metrics.Prospective case ...
Sepulveda-Beltran, Paula A, Pondelis, Nicholas, Jacobs, Deborah S, Ciolino, Joseph B, Galor, Anat, Talbert, Cameron, Zurakowski, David, Shields, Chloe, Gonzalez, Alex, Parel, Jean-Marie, Bhatt, Shreya, Karakoleva, Ema V, Felix, Elizabeth R, Aguilar, Mariela C, Moulton, Eric A, Rowaan, Cornelis, Valdes-Arias, David, Durkee, Heather   +17 more
core   +1 more source