Results 51 to 60 of about 9,291 (257)

Cardiovascular Risk Prediction and Periodontitis in Patients with Acute Coronary Syndrome, Holguín 2020

Revista Cubana de Estomatología, 2023
Introduction: Prediction of cardiovascular risk favors prevention of cardiovascular events. Objective: To estimate cardiovascular risk and determine the periodontal condition of patients with acute coronary syndrome.
Maricelys Leonor Martínez Pérez, Jacqueline Medrano Montero, Luis Enrique Almaguer Mederos   +2 more
doaj  

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

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 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

Practical recommendations for the clinical evaluation of patients with hereditary ataxia and hereditary spastic paraplegia

Neurología (English Edition)
Hereditary ataxia (HA) and hereditary spastic paraplegia (HSP) are rare diseases; as such, they are rarely managed in general neurology consultations. We present a set of brief, practical recommendations for the diagnosis and management of these patients,
F.J. Arpa Gutiérrez, M.J. Abenza Abildúa, I. Rouco Axpe, A.D. Adarmes Gómez, C. Serrano Munuera   +4 more
doaj   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon, Dana Olofson, Diana Anissian, Divyanshu Dubey, Eoin P. Flanagan, Max C. Herman, Sarosh R. Irani, Daniel H. Lachance, Maria A. Willrich, Sean Pittock, John R. Mills, Anastasia Zekeridou   +11 more
wiley   +1 more source

Guía práctica de evaluación de pacientes con ataxias y paraparesias espásticas hereditarias en consulta

Neurología
Resumen: Las ataxias hereditarias (AH) y paraparesias espásticas hereditarias son enfermedades raras, poco frecuentes en las consultas del neurólogo general.
F.J. Arpa Gutiérrez, M.J. Abenza Abildúa, I. Rouco Axpe, A.D. Adarmes Gómez, C. Serrano Munuera   +4 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Enfermedad periodontal y factores de riesgo aterotrombótico en pacientes con síndrome coronario agudo

Correo Científico Médico, 2020
Introducción: Numerosas investigaciones fundamentan la relación entre enfermedad periodontal y enfermedades cardiovasculares de origen isquémico. Objetivo: Evaluar la asociación de la enfermedad periodontal y factores de riesgo aterotrombóticos en ...
Maricelys Leonor Martínez Pérez, Luis Enrique Almaguer Mederos, Jacqueline Medrano Montero, Daynellis Frómeta Delgado, Aleannis Cané Rodríguez   +4 more
doaj   +2 more sources

Exploring neuropsychiatric symptoms in Friedreich ataxia

Scientific Reports
Neuropsychiatric symptoms (NPS) are common in hereditary ataxias as a part of the cerebellar cognitive affective syndrome. In Friedreich ataxia (FRDA), one of the most common hereditary ataxias, depressive symptoms were previously reported, but little is
Simona Karamazovova, Lucie Stovickova, Dylan J. Jester, Veronika Matuskova, Jaroslava Paulasova-Schwabova, Michaela Kuzmiak, Alena Zumrova, Ross Andel, Martin Vyhnalek   +8 more
doaj   +1 more source