Results 101 to 110 of about 259,165 (312)

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

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

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

Corneal densitometry in Chinese adults with healthy corneas: associations with sex, age, ocular metrics, and optical characteristics

BMC Ophthalmology
Background Standardized corneal densitometry (CD) values in large samples of healthy Chinese individuals are scarce. Therefore, we aimed to determine the standard CD values using a Scheimpflug camera in healthy corneas, investigate the correlations of ...
Jiliang Ning, Siyu Sun, Qiaosi Zhang, Lin Jin, Xiaoyu Liu, Jun Xu, Lijun Zhang   +6 more
doaj   +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

Ocular surface squamous neoplasia [PDF]

Medical Journal Armed Forces India, 2018
Sonali V, Kumar, D, Joshi
openaire   +2 more sources

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

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

Systematic inflammatory indicators and clinical management of exogenous endophthalmitis due to metal penetrating injury of eyeball

Frontiers in Medicine
ObjectiveTo evaluate systemic inflammatory markers in cases of exogenous endophthalmitis caused by metal foreign bodies after penetrating eye injury and identify risk factors for poor control post-initial emergency surgery.MethodsTwenty-nine patients ...
Donghai Wu, Donghai Wu, Donghai Wu, Donghai Wu, Donghai Wu, Donghai Wu, Yuan Lin, Yuan Lin, Yuan Lin, Yuan Lin, Yuan Lin, Yuan Lin, Huping Wu, Huping Wu, Huping Wu, Huping Wu, Huping Wu, Huping Wu, Jinhong Cai, Jinhong Cai, Jinhong Cai, Jinhong Cai, Jinhong Cai, Jinhong Cai   +23 more
doaj   +1 more source