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1.
Genes (Basel) ; 11(12)2020 12 19.
Artigo em Inglês | MEDLINE | ID: mdl-33352713

RESUMO

Primary mitochondrial myopathies (PMM) are a group of mitochondrial disorders characterized by a predominant skeletal muscle involvement. The aim of this study was to evaluate whether the biochemical profile determined by Fourier-transform infrared (FTIR) spectroscopic technique would allow to distinguish among patients affected by progressive external ophthalmoplegia (PEO), the most common PMM presentation, oculopharyngeal muscular dystrophy (OPMD), and healthy controls. Thirty-four participants were enrolled in the study. FTIR spectroscopy was found to be a sensitive and specific diagnostic marker for PEO. In particular, FTIR spectroscopy was able to distinguish PEO patients from those affected by OPMD, even in the presence of histological findings similar to mitochondrial myopathy. At the same time, FTIR spectroscopy differentiated single mtDNA deletion and mutations in POLG, the most common nuclear gene associated with mitochondrial diseases, with high sensitivity and specificity. In conclusion, our data suggest that FTIR spectroscopy is a valuable biodiagnostic tool for the differential diagnosis of PEO with a high ability to also distinguish between single mtDNA deletion and mutations in POLG gene based on specific metabolic transitions.


Assuntos
DNA Mitocondrial/genética , Músculo Deltoide/química , Miopatias Mitocondriais/diagnóstico , Espectroscopia de Infravermelho com Transformada de Fourier , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia , Criança , DNA Polimerase gama/genética , DNA Mitocondrial/análise , Músculo Deltoide/patologia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miopatias Mitocondriais/genética , Miopatias Mitocondriais/patologia , Distrofia Muscular Oculofaríngea/diagnóstico , Distrofia Muscular Oculofaríngea/patologia , Oftalmoplegia Externa Progressiva Crônica/diagnóstico , Oftalmoplegia Externa Progressiva Crônica/patologia , Sensibilidade e Especificidade , Adulto Jovem
2.
J Sports Sci ; 38(20): 2390-2395, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32602402

RESUMO

The purpose of the present study was to compare the myosin heavy chain (MHC) isoform composition of the deltoid and vastus lateralis muscles of the dominant and non-dominant limbs in handball players. Eleven male Greek elite handball players (age 22.6 ± 1.9 yrs, training experience 10.6 ± 2.1 yrs, height 184.1 ± 4.1 cm, and weight 81.0 ± 12.5 kg) participated in the study. Four muscle biopsies were obtained from the dominant and non-dominant deltoid and vastus lateralis muscles during the in-season period. The MHC composition was determined using SDS-PAGE. No significant difference was found between the dominant and non-dominant muscles; Deltoid muscle: MHC I [(95%CI = -1.22, 0.33), P = 0.228], MHC ΙΙa [(95%CI = -0.32, 1.59), P = 0.168] and MHC IIx [(95%CI = -1.49, 1.10), P = 0.749]; Vastus lateralis muscle: MHC I [(95%CI = -0.38, 0.63), P = 0.586], MHC ΙΙa [(95%CI = -0.50, 0.65), P = 0.783] and MHC IIx [(95%CI = -1.08, 0.42), P = 0.355]. The findings of the present study indicate that the greater use of the dominant limbs for throwing actions and body movements in handball do not lead to altered MHC isoform composition compared to the non-dominant limbs.


Assuntos
Músculo Deltoide/química , Cadeias Pesadas de Miosina/análise , Músculo Quadríceps/química , Esportes/fisiologia , Eletroforese em Gel de Poliacrilamida , Humanos , Masculino , Cadeias Pesadas de Miosina/química , Isoformas de Proteínas/análise , Adulto Jovem
3.
Exp Biol Med (Maywood) ; 241(17): 2007-2013, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27439541

RESUMO

Muscle tissue oxygenation (SmO2) can track central blood volume loss associated with hemorrhage. Traditional peripheral measurement sites (e.g., forearm) may not be practical due to excessive movement or injury (e.g., amputation). The aim of this study was to evaluate the efficacy of three novel anatomical sites for the assessment of SmO2 under progressive central hypovolemia. 10 male volunteers were exposed to stepwise prone lower body negative pressure to decrease central blood volume, while SmO2 was assessed at four sites-the traditional site of the flexor carpi ulnaris (ARM), and three novel sites not previously investigated during lower body negative pressure, the deltoid, latissimus dorsi, and trapezius. SmO2 at the novel sites was compared to the ARM sensor and to stroke volume responses. A reduction in SmO2 was detected by the ARM sensor at the first level of lower body negative pressure (-15 mmHg; P = 0.007), and at -30 (the deltoid), -45 (latissimus dorsi), and -60 mmHg lower body negative pressure (trapezius) at the novel sites (P ≤ 0.04). SmO2 responses at all novel sites were correlated with responses at the ARM (R ≥ 0.89), and tracked the reduction in stroke volume (R ≥ 0.87); the latissimus dorsi site exhibited the strongest linear correlations (R ≥ 0.96). Of the novel sensor sites, the latissimus dorsi exhibited the strongest linear associations with SmO2 at the ARM, and with reductions in central blood volume. These findings have important implications for detection of hemorrhage in austere environments (e.g., combat) when use of a peripheral sensor may not be ideal, and may facilitate incorporation of these sensors into uniforms.


Assuntos
Músculo Deltoide/química , Hipovolemia/diagnóstico , Músculo Esquelético/química , Oxigênio/análise , Músculos Superficiais do Dorso/química , Adulto , Hemorragia/diagnóstico , Humanos , Hipovolemia/metabolismo , Pressão Negativa da Região Corporal Inferior , Masculino , Volume Sistólico
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