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Blood Levels of Co-inhibitory-Receptors: A Biomarker of Disease Prognosis in Multiple Sclerosis
Discussion Our main finding is that LAG-3 and TIM-3 expression levels in the PBMCs of MS patients can aid to predict disease outcome. Lower LAG-3 and TIM-3 expression were associated with the worst outcome and increased likelihood to progress to SPMS, while higher LAG-3 and TIM-3 expression correlated significantly with benign prognosis, persisting RRMS, and lower EDSS score at 10 years after blood sampling. Analysis of the paraclinical and clinical parameters baseline brain MRI T2LV, EDSS at diagnosis, and 1-year progression index combined with LAG-3 and TIM-3 expression levels resulted in superior ability to identify pa...
Source: Frontiers in Immunology - April 29, 2019 Category: Allergy & Immunology Source Type: research

Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry
ConclusionsThe clinical characteristics of DD differ substantially from traditional descriptions: age at presentation of DD is older, the disease is not multisystemic in women, and pre-excitation is infrequent.ResumenIntroducción y objetivosLa enfermedad de Danon (ED) es una enfermedad producida por mutaciones en el gen LAMP2. Se la considera una enfermedad multisistémica caracterizada por miocardiopatía hipertrófica con preexcitación e hipertrofia extrema, discapacidad intelectual, miopatía, presentación infantil y peor pronóstico en varones. Hay pocas series que permitan conocer las características clínicas y e...
Source: Revista Espanola de Cardiologia - August 12, 2018 Category: Cardiology Source Type: research

The Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
Conclusions -The DES-p.Glu401Asp mutation causes predominant iLVAC/D with a high incidence of adverse clinical events in the absence of skeletal myopathy or conduction system disorders. The pathogenic mechanism probably corresponds to an alteration in desmin dimer and oligomer assembly and its connection with membrane proteins within the intercalated disc. PMID: 29212896 [PubMed - as supplied by publisher]
Source: Circulation - December 6, 2017 Category: Cardiology Authors: Bermúdez-Jiménez FJ, Carriel V, Brodehl A, Alaminos M, Campos A, Schirmer I, Milting H, Álvarez Abril B, Álvarez M, López-Fernández S, García-Giustiniani D, Monserrat L, Tercedor L, Jiménez-Jáimez J Tags: Circulation Source Type: research