Message from animal models and experimental medicine for 2024-Striving for excellence with distinctive features. [PDF]
Animal Model Exp MedQin C.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
Longevity-CancerDB: unlocking the distinctive features and roles of longevity-associated genes in tumourigenesis. [PDF]
Clin Transl MedGuo L +10 more
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Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird +9 more
wiley +1 more source
A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features. [PDF]
Mol SyndromolSoğukpınar M +4 more
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Distinctive Features of Orbital Adipose Tissue (OAT) in Graves' Orbitopathy. [PDF]
Int J Mol Sci, 2020 Zhang L +14 more
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Distinctive Features of Rotational Thromboelastometry in Patients with Infective Endocarditis Undergoing on-Pump Cardiac Surgery: A Retrospective Propensity Score-matched Observational Study. [PDF]
Clin Appl Thromb HemostVander Zwaag S +3 more
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A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
The Hearing Test App for Android Devices: Distinctive Features of Pure-Tone Audiometry Performed on Mobile Devices [Letter]. [PDF]
Med Devices (Auckl)Triwiyanto T.
europepmc +1 more source