Results 71 to 80 of about 291,872 (291)

Neurofibromatosis Type 1 with Overlap Turner Syndrome and Klinefelter Syndrome

, 2010
Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases. Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin. In this article,
Keskin, Mehmet, Kurtoglu, Selim, Per, HÜSEYİN, Hatipoğlu, Nihal, Kendirci, Mustafa   +4 more
core   +1 more source

Characteristics and self-rated health of overlap syndrome

, 2021
Asthma; Chronic obstructive lung disease; COPD; Overlap syndrome; Self-rated ...
이진화, 류연주, 장중현
core   +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

The asthma–COPD overlap syndrome: how is it defined and what are its clinical implications? [PDF]

, 2016
Maarten van den Berge,1,2 René Aalbers,31Department of Pulmonary Diseases, University Medical Center Groningen, University of Groningen, 2GRIAC Research Institute, University Medical Center Groningen, University of Groningen, 3Department of ...
Aalbers R, Aalbers, Rene, van den Berge, Maarten, van den Berge M, van den Berge, Maarten; id_orcid   +4 more
core   +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

Obstructive sleep apnea, COPD, the overlap syndrome, and mortality: results from the 2005–2008 National Health and Nutrition Examination Survey

, 2018
Wei Du,1,* Jun Liu,2,* Jianlong Zhou,1,* Dan Ye,3 Yan OuYang,4 Qingnan Deng11Respiratory Diseases Group, the 6th Unit, Department of Internal Medicine, Guangzhou General Hospital of Guangzhou Military Command, Guangzhou 510010, China; 2Department of ...
Liu J, Deng Q, Du W, Ye D, Zhou J, OuYang Y   +5 more
core  

Pendekatan Terapi Asthma-COPD Overlap (ACO) [The Approach of Asthma-COPD Overlap Syndrome Treatment]

Jurnal Respirasi, 2017
Asthma and COPD are the most common chronic airways disease and have different clinical manifestations and treatments. Asthma is an airway inflammatory disease mediated by Th2 cytokines, CD4 + lymphocytes and eosinophils, whereas inflammation of COPD is ...
Muhammad Amin, Alamsyah Sitepu
doaj   +1 more source

Asthma-COPD overlap szindróma | Asthma-COPD overlap syndrome [PDF]

, 2016
Absztrakt Az obstruktív tüdőbetegségek világszerte jelentős népegészségügyi problémát jelentenek, magas prevalenciájuk és a társadalmat érintő nagy szocioökonómiai költségeik miatt.
Balázs Odler, Veronika Müller, Müller, Veronika, Odler, Balázs   +3 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

‘Overlap’ syndromes. [PDF]

Annals of the Rheumatic Diseases, 1990
R, Cervera, M A, Khamashta, G R, Hughes
openaire   +2 more sources