Results 71 to 80 of about 7,834,690 (307)

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

Dairy product consumption and the metabolic syndrome

, 2008
The metabolic syndrome is an important risk factor for type 2 diabetes mellitus and CVD. Epidemiological studies have now suggested protective effects of dairy product consumption on the development of this syndrome.
van Meijl, L.E.C., Mensink, R.P., Vrolix, R.   +2 more
core   +1 more source

Serum vitamin D levels, diabetes and cardio-metabolic risk factors in Aboriginal and Torres Strait Islander Australians [PDF]

, 2014
Assesses levels of serum 25(OH)D in Aboriginal and Torres Strait Islander Australians and explores relationships between 25(OH)D and cardio-metabolic risk factors and diabetes.
Lu, Zhong X, Graham R.D. Jones, Kanakamani Jeyaraman, Kanakamani Jeyaraman, Louise J. Maple-Brown, Ellis, Andrew, Richard J MacIsaac, Ashim Sinha, Jaquelyne T. Hughes, Paul Lawton, Andrew Ellis, Zhong X Lu, Maple-Brown, Louise J, Jerums, George, Jeyaraman, Kanakamani, MacIsaac, Richard J, Kerin O'Dea, Alan Cass, Lawton, Paul, George Jerums, Graham RD Jones, Zhong X. Lu, Jones, Graham Rd, Kerin O’Dea, Hughes, Jaquelyne T, Cass, Alan, O'Dea, Kerin, Louise J Maple-Brown, Richard J. MacIsaac, Jaquelyne T Hughes, Sinha, Ashim   +30 more
core   +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

Nutrients and pharmacological management of Metabolic syndrome

, 2021
Metabolic syndrome is a public health problem defined by a cluster of interconnected components that increase the risk of cardiovascular atherosclerotic diseases and T2DM.
Ghim, Nayoung
core  

The interaction between metabolic disease and ageing [PDF]

, 2014
Two of the greatest crises that civilisation faces in the 21st century are the predicted rapid increases in the ageing population and levels of metabolic disorders such as obesity and type 2 diabetes.
Brown, James, Navas, Placido, Helen R. Griffiths, James E. Brown, Rana, Karan S., Karan S. Rana, Placido Navas, Griffiths, Helen R.   +7 more
core   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Association of Metabolic Syndrome Parameters with TT3 and FT3/FT4 Ratio in Obese Turkish Population

, 2012
Background: Obesity and metabolic syndrome are major health problems worldwide, including Turkey. Recent studies have shown an association between thyroid function tests and metabolic syndrome parameters.
ÜSTAY, ÖZLEM
core   +1 more source

Association of Apolipoprotein A-V Gene Polymorphisms and Lipid Metabolism in Mongolian Patients with Metabolic Syndrome

Central Asian Journal of Medical Sciences, 2017
Objectives: Our study determined the genetic effect of Apolipoprotein A-V (APOA5) gene polymorphisms on lipid parameters in patients with metabolic syndrome (MetS).
Ariunbold Chuluun-Erdene, Batnanran Dagdan, Orgil Sengeragchaa, Purevjal Sanjmyatav, Munkhtsetseg Janlav   +4 more
doaj   +1 more source