RESUMEN
INTRODUCTION: McArdle disease presents clinical and genetic heterogeneity. There is no obvious association between genotype and phenotype. PYGM (muscle glycogen phosphorylase gene) mRNA expression and its association with clinical, morphological, and genetic aspects of the disease as a set have not been studied previously. METHODS: We investigated genetic variation in PYGM considering the number of PTCs (premature termination codon) per sample and compared mRNA expression in skeletal muscle samples from 15 patients with McArdle disease and 16 controls to PTCs number and different aspects of the disease. RESULTS: The main variant found was c.148C>T (PTC-premature termination codon). Patients with two PTCs showed 42% mRNA expression compared to the control group. Most cases showed an inversely proportional relation among PTCs and mRNA expression. Association between mRNA expression and other aspects of the disease showed no statistically significant difference (p> 0.05). DISCUSSION: mRNA expression is not useful as a predictor factor for the prognosis and severity of the disease. Different mechanisms as post-transcriptional events, epigenetics factors or protein function may be involved.
Asunto(s)
Demografía , Regulación Enzimológica de la Expresión Génica , Glucógeno Fosforilasa de Forma Muscular/genética , Enfermedad del Almacenamiento de Glucógeno Tipo V/genética , Adulto , Codón sin Sentido/genética , Estudios Transversales , Femenino , Enfermedad del Almacenamiento de Glucógeno Tipo V/epidemiología , Enfermedad del Almacenamiento de Glucógeno Tipo V/patología , Humanos , Masculino , Persona de Mediana Edad , ARN Mensajero/genética , Adulto JovenRESUMEN
Anastomotic leakage is a complication of colorectal surgery. C-reactive protein (CRP) is an acute-phase marker that can indicate surgical complications. We determined whether serum CRP levels in patients who had undergone colorectal surgery can be used to exclude the presence of anastomotic leakage and allow safe early discharge. We included 90 patients who underwent colorectal surgery with primary anastomosis. Serum CRP levels were measured retrospectively on postoperative days (PODs) 1 - 7. Patients with anastomotic leakage (n = 11) were compared to those without leakage (n = 79). We statistically analysed data and plotted receiver operating characteristic curves. The incidence of anastomotic leakage was 12.2%. Diagnoses were made on PODs 3 - 24. The overall mortality rate was 3.3% (18.2% in the leakage group, 1.3% in the non-leakage group; P < 0.045). CRP levels were most accurate on POD 4, with a cutoff level of 180 mg/L, showing an area under the curve of 0.821 and a negative predictive value of 97.2%. Lower CRP levels after POD 2 and levels <180 mg/L on POD 4 may indicate the absence of anastomotic leakage and may allow safe discharge of patients who had undergone colorectal surgery with primary anastomosis.
