Papel de la proteína asociada a pancreatitis en el cribado neonatal de la fibrosis quística / [Role of pancreatitis-associated protein in neonatal screening for cystic fibrosis]

Objetivo: El objetivo es comparar la eficacia de dos métodos de cribado de fibrosis quística (FQ) mediante la utilización de la medición del tripsinógeno inmunorreactivo (TIR) y la proteína asociada pancreatitis (PAP) en gota de sangre seca.Métodos: Estudio observacional prospectivo que evaluó a neonatos con niveles de TIR inicial (TIR1) mayor de 50ng/mL a los que se le ha realizado cuantificación de la PAP y una segunda determinación de TIR (TIR2) entre diciembre 2017 y junio 2020. Se comparó la detección de FQ entre dos protocolos de cribado TIR1/ TIR2 vs TIR1/PAP/TIR2.Resultados: Durante el período analizado se sometieron a cribado neonatal 60.399 neonatos, de los que 316 tuvieron TIR1 elevada. Se confirmaron 10 casos de FQ, con una incidencia de 1 caso por cada 6.039 neonatos cribados. El protocolo TIR1/TIR2 identificó 34 casos con una sensibilidad del 88,89%, especificidad 91,53%, valor predictivo positivo 23,53% y valor predictivo negativo de 99,65%. El protocolo TIR1/PAP/TIR2 obtuvo una sensibilidad 88,89 %, especificidad 96,42%, valor predictivo positivo 42,11% y valor predictivo negativo 99,66%. El alelo c.1521_1523delCTT se identificó en el 80% de los casos.Conclusiones: El protocolo TIR1/PAP/TIR2 aumenta la especificidad del cribado neonatal, obteniendo una disminución del 4,89% de la proporción de falsos positivos respecto al protocolo TIR1/TIR2. Este nuevo protocolo de cribado puede permitir hacer un cribado de la FQ más eficiente. (AU)

Objective: The aim is to compare the efficacy of two screening methods for cystic fibrosis (CF) by measuring immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) in dried blood spots.Methods: Prospective observational study that evaluated neonates with initial IRR levels (IRR1) greater than 50ng/mL who underwent PAP quantification and a second IRR determination (IRR2) between December 2017 and June 2020. The CF detection between two screening protocols TIR1/TIR2 vs TIR1/PAP/TIR2.Results: During the analyzed period, 60,399 neonates underwent neonatal screening, of which 316 had elevated IRR1. 10 cases of CF were confirmed, with an incidence of 1 case per 6,039 newborns screened. The TIR1/TIR2 protocol identified 34 cases with a sensitivity of 88.89%, specificity 91.53%, positive predictive value 23.53%, and negative predictive value 99.65%. The TIR1/PAP/TIR2 protocol obtained a sensitivity of 88.89%, a specificity of 96.42%, a positive predictive value of 42.11%, and a negative predictive value of 99.66%. The c.1521_1523delCTT allele was identified in 80% of cases.Conclusions: The TIR1/PAP/TIR2 protocol increases the specificity of neonatal screening, obtaining a 4.89% decrease in the proportion of false positives compared to the TIR1/TIR2 protocol. This new screening protocol may allow CF screening to be more efficient. (AU)

[Assessment with the Epworth scale of daytime somnolence in patients with suspected obstructive apnea syndrome during sleep. Differences between patients and their partners]. / Valoración mediante escala de Epworth de la somnolencia diurna en pacientes con sospecha de síndrome de apneas obstructivas durante el sueño. Diferencias entre los pacientes y sus parejas.

UNLABELLED: Daytime sleepiness is an important symptom in obstructive sleep apnea syndrome. The Epworth sleepiness scale gives a subjective estimate of the level of sleepiness by asking the patient to estimate the probability of falling asleep during each of eight activities of daily living. OBJECTIVE: We aimed to see whether patients suspected of sleep apnea and their partners or other living companions assessed daytime sleepiness differently. MATERIAL AND METHOD: One hundred fifty-nine consecutive patients referred for suspicion of sleep respiratory disorder were studied. Patients and their partners assessed sleepiness separately using the Epworth scale. RESULTS: One hundred forty subjects were men and 19 were women. The mean global Epworth score provided by the patients was significantly lower than that of their companions (10 +/- 0.37 versus 11 +/- 0.42; p < 0.001). However, the two were closely correlated (rho = 0.79). CONCLUSION: Our results indicate that living companions' subjective Epworth scale assessment of sleepiness is greater than is that of patients themselves.