Introducción: El tamizaje de los Trastornos del Espectro Autista (TEA) mediante el Modified Checklist for Autism in Toddlers - Revised with Follow Up (M-CHAT-R/F) aumenta la detección precoz, posibilitando intervenciones tempranas y mejorando el pronóstico. Este instrumento es parte del algoritmo de manejo ante la sospecha de TEA en diversas guías clínicas. El objetivo fue realizar la validación concurrente, discriminante y el análisis de confiabilidad del M-CHAT-R/F en una población chilena.Pacientes y Método: Esta es la segunda etapa de la adaptación transcultural, de diseño transversal. Se aplicó M-CHAT-R/F a una muestra de 20 niños con sospecha de TEA y 100 niños de control sano seleccionados al azar, de 16-30 meses de edad. Se aplicó Autism Diagnostic Observation Schedule (ADOS-2), considerado como referencia, a los 20 pacientes de la muestra clínica, a 20 niños de la muestra de control sano y a aquellos casos de la muestra de control sano con M-CHAT-R/F positivo. Se calculó alfa de Cronbach, análisis de correlación de M-CHAT-R/F y ADOS-2 y sensibilidad y especificidad.Resultados: En el grupo de control sano, M-CHAT-R/F resultó alterado en 2 pacientes, siendo uno positivo y otro negativo para TEA con ADOS-2. En muestra clínica el M-CHAT-R/F fue positivo en todos, con test de ADOS-2 negativo en 3 casos. La confiabilidad Alfa del M-CHATR/F fue =0,889, la sensibilidad y especificidad discriminante de 100 y 98% y la concurrente 100% y 87,5% respectivamente.Conclusión: M-CHAT-R/F en su versión chilena resultó fiable, sensible y específico de manera similar al original, lo cual abre la posibilidad de su utilización en población clínica y para investigación. La validación es un proceso continuo que se debe profundizar.

We read with great interest the manuscript by Wellens et al. reviewing the evidence on SARS-CoV-2 vaccination in patients with inflammatory bowel disease [IBD].¹ The authors highlight that IBD patients should receive vaccination against SARS-CoV-2. In fact, the International Organization for the Study of IBD has already recommended vaccinating all patients with IBD as soon as they are able to receive the vaccine, regardless of immune-modifying therapies or disease activity.²

Summary: Background: Suboptimal response to ursodeoxycholic acid occurs in 40% of primary biliary cholangitis (PBC) patients, affecting survival. Achieving a deep response (normalisation of alkaline phosphatase [ALP] and bilirubin ≤0.6 upper limit of normal) improves survival. Yet, the long‐term effectiveness of second‐line treatments remains uncertain.Aims: To evaluate the long‐term effectiveness of obeticholic acid (OCA) ± fibrates. Focusing on biochemical response (ALP ≤1.67 times the upper limit of normal, with a decrease of at least 15% from baseline and normal bilirubin levels), normalisation of ALP, deep response and biochemical remission (deep response plus aminotransferase normalisation).Methods: We conducted a longitudinal, observational, multicentre study involving ursodeoxyccholic acid non‐responsive PBC patients (Paris‐II criteria) from Spain and Portugal who received OCA ± fibrates.Results: Of 255 patients, median follow‐up was 35.1 months (IQR: 20.2–53). The biochemical response in the whole cohort was 47.2%, 61.4% and 68.6% at 12, 24 and 36 months. GLOBE‐PBC and 5‐year UK‐PBC scores improved (p < 0.001). Triple therapy (ursodeoxycholic acid plus OCA plus fibrates) had significantly higher response rates than dual therapy (p = 0.001), including ALP normalisation, deep response and biochemical remission (p < 0.001). In multivariate analysis, triple therapy remained independently associated with biochemical response (p = 0.024), alkaline phosphatase normalisation, deep response and biochemical remission (p < 0.001). Adverse effects occurred in 41.2% of cases, leading to 18.8% discontinuing OCA. Out of 55 patients with cirrhosis, 12 developed decompensation. All with baseline portal hypertension.Conclusion: Triple therapy was superior in achieving therapeutic goals in UDCA‐nonresponsive PBC. Decompensation was linked to pre‐existing portal hypertension.

Introduction: Wilson disease is an autosomal recessive disease of liver copper metabolism with predominant hepatic and neurological manifestations. Long-term data on the clinical follow-up and treatment efficacy are limited due to the low frequency of the disease. We evaluated a large cohort of Wilson disease patients from Northern Portugal during a 20-year follow-up period. Methods: Twenty-four patients, diagnosed from 1975 to 2020 in a tertiary care center in Portugal, were retrospectively evaluated according to their clinical presentation, therapies and outcomes. Results: Most of the patients were males (54%), with a median age at diagnosis of 19 years old (interquartile range 15–25). The main manifestations of Wilson disease were hepatic (71%) and neurological (25%). Family history was positive in 5 (21%) patients. Four patients (17%) presented with acute liver failure and fifteen (63%) individuals had cirrhosis at diagnosis. Penicillamine therapy was used by 11 (46%) patients, while trientine and zinc were given to 8 (33%) and 1 (4%) patient, respectively. Ten (42%) individuals underwent liver transplantation. The majority of patients (83%) had stable disease or improved outcomes during follow-up. Conclusion: This is the largest cohort of adult patients with Wilson disease reported in Northern Portugal. We show that Wilson disease has favorable outcomes with long overall survival, assuming adherence to therapy and lack of other insults to their liver.