RESUMEN
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by heterogeneous cognitive, behavioral and communication impairments. Disruption of the gut-brain axis (GBA) has been implicated in ASD although with limited reproducibility across studies. In this study, we developed a Bayesian differential ranking algorithm to identify ASD-associated molecular and taxa profiles across 10 cross-sectional microbiome datasets and 15 other datasets, including dietary patterns, metabolomics, cytokine profiles and human brain gene expression profiles. We found a functional architecture along the GBA that correlates with heterogeneity of ASD phenotypes, and it is characterized by ASD-associated amino acid, carbohydrate and lipid profiles predominantly encoded by microbial species in the genera Prevotella, Bifidobacterium, Desulfovibrio and Bacteroides and correlates with brain gene expression changes, restrictive dietary patterns and pro-inflammatory cytokine profiles. The functional architecture revealed in age-matched and sex-matched cohorts is not present in sibling-matched cohorts. We also show a strong association between temporal changes in microbiome composition and ASD phenotypes. In summary, we propose a framework to leverage multi-omic datasets from well-defined cohorts and investigate how the GBA influences ASD.
Asunto(s)
Trastorno del Espectro Autista , Microbioma Gastrointestinal , Humanos , Microbioma Gastrointestinal/genética , Eje Cerebro-Intestino , Trastorno del Espectro Autista/genética , Trastorno del Espectro Autista/metabolismo , Estudios Transversales , Teorema de Bayes , Reproducibilidad de los Resultados , CitocinasRESUMEN
BACKGROUND This case series describes 5 patients with SARS-CoV-2 infection and COVID-19 in Ecuador who had been treated with hydroxychloroquine for systemic lupus erythematosus (SLE) prior to their COVID-19 illness. CASE REPORT Case #1 reports a 29-year-old woman who had been treated with 200 mg of hydroxychloroquine per day for 1 year and presented with flu-like symptoms, chest pain, fever, odynophagia, asthenia, dry cough, and chills. Case #2 was a 34-year-old woman whose treatment for SLE included 200 mg of hydroxychloroquine per day since 2017. She arrived at the clinic with a dry cough, asthenia, and myalgias. Case #3 was a 24-year-old woman who had been using 200 mg of hydroxychloroquine per day since 2010. She presented with asthenia, myalgias, headaches, hypogeusia, and anosmia. Case #4 was a 39-year-old woman taking 200 mg of hydroxychloroquine every day for SLE who presented with dyspnea, chest pain, odynophagia, hypogeusia, anosmia, diarrhea, and fever. Case #5 was a 46-year-old woman who had been taking 200 mg of hydroxychloroquine since 2019. She came to our hospital complaining of chest pain, fever, and dyspnea. In all 5 patients, SARS-CoV-2 infection was confirmed with a nasopharyngeal SARS-CoV-2 reverse transcription-polymerase chain reaction (RT-PCR) test using the Cepheid/GeneXpert system. CONCLUSIONS All 5 of our patients with SLE who were taking hydroxychloroquine presented with SARS-CoV-2 infection and symptoms of COVID-19. This case series provides support for a lack of prevention of COVID-19 by hydroxychloroquine.
Asunto(s)
Infecciones por Coronavirus/prevención & control , Hidroxicloroquina/administración & dosificación , Lupus Eritematoso Sistémico/tratamiento farmacológico , Pandemias/prevención & control , Neumonía Viral/prevención & control , Adulto , COVID-19 , Prueba de COVID-19 , Técnicas de Laboratorio Clínico , Infecciones por Coronavirus/diagnóstico , Infecciones por Coronavirus/epidemiología , Disnea/diagnóstico , Disnea/etiología , Ecuador , Servicio de Urgencia en Hospital , Femenino , Fiebre/diagnóstico , Fiebre/etiología , Humanos , Persona de Mediana Edad , Pandemias/estadística & datos numéricos , Neumonía Viral/diagnóstico , Neumonía Viral/epidemiología , ARN Viral/análisis , Reacción en Cadena en Tiempo Real de la Polimerasa/métodos , Medición de Riesgo , Muestreo , Insuficiencia del Tratamiento , Adulto JovenRESUMEN
Most studies on autism spectrum disorder (ASD) risk factors have been conducted in developed countries where ethnicity and environment are different than in developing countries. We compared nutritional status, immune response and microbiota composition in mestizo children with ASD with matched controls in Ecuador. Twenty-five cases and 35 controls were matched by age, sex and school location. The prevalence of under- and overweight was higher in children with ASD. Nutritional differences were accompanied by abnormal food habits and more frequent gastrointestinal symptoms in children with ASD. Also, greater serum concentrations of TGF-ß1 were observed in children with ASD. Finally, there was greater alpha diversity and abundance of Bacteroides (2 OTUs), Akkermansia, Coprococcus and different species of Ruminococcus in ASD children.
Asunto(s)
Trastorno del Espectro Autista/inmunología , Trastorno del Espectro Autista/microbiología , Citocinas/sangre , Microbioma Gastrointestinal , Inmunidad , Estado Nutricional , Estudios de Casos y Controles , Niño , Preescolar , ADN Bacteriano , Ecuador , Femenino , Humanos , Masculino , Prevalencia , Factores de Riesgo , Análisis de Secuencia , Factor de Crecimiento Transformador beta1/sangreRESUMEN
OBJECTIVE: The aim of this study is to demonstrate if routine assessment of patient index data 3 has a correlation with disease's activity as much as disease activity score 28, clinical disease activity index, and simplified disease activity index in Ecuadorian patients with rheumatoid arthritis seen in Unidad de Enfermedades Reumáticas y Autoinmunes [UNERA] from December 2016 to December 2017. METHODS: This is a retrospective study in 200 patients that fulfill the American College of Rheumatology 2010 criteria for diagnosis of rheumatoid arthritis. The patients were evaluated from December 2016 to December 2017. Descriptive analyses were carried out, also Pearson correlation was used, and, to give a better clinical significance, a chi-square test was conducted. Whenever assumptions of chi-square test were violated, a Fisher's exact test was reported. RESULTS: RAPID3 correlated best with DAS28 (r.83, p < 0.001), followed by CDAI (r.80, p < 0.001) and then SDAI (r.77, p < 0.001). CONCLUSION: RAPID3 is a questionnaire that only takes 10 seconds to calculate and correlates in a significant way with traditional clinical measures that require more time to perform, saving time in busy health facilities.