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Background: Up to 30% of patients with pediatric inflammatory bowel disease (IBD) do not respond to anti-Tumor Necrosis Factor (anti-TNF) therapy. The aim of this study was to identify pharmacogenomic markers that predict early response to anti-TNF drugs in pediatric patients with IBD. Methods: An observational, longitudinal, prospective cohort study was conducted. The study population comprised 38 patients with IBD aged < 18 years who started treatment with infliximab or adalimumab (29 responders and nine non-responders). Whole gene expression profiles from total RNA isolated from whole blood samples of six responders and six non-responders taken before administration of the biologic and after two weeks of therapy were analyzed using next-generation RNA sequencing. The expression of six selected genes was measured for purposes of validation in all of the 38 patients recruited using qPCR. Results: Genes were differentially expressed in non-responders and responders (32 before initiation of treatment and 44 after two weeks, Log2FC (Fold change) >0.6 or p value < 0.05). After validation, FCGR1A, FCGR1B, and GBP1 were overexpressed in non-responders two weeks after initiation of anti-TNF treatment (Log2FC 1.05, 1.21, and 1.08, respectively, p value < 0.05). Conclusion: Expression of the FCGR1A, FCGR1B, and GBP1 genes is a pharmacogenomic biomarker of early response to anti-TNF agents in pediatric IBD.

Phelan–McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by a developmental delay and autism spectrum disorder (ASD)-like behaviors. Emerging research suggests a link between gut microbiota and neuropsychiatric conditions, including PMS. This study aimed to investigate the fecal microbiota and immune profiles of children with PMS compared to healthy controls. Fecal samples were collected from children diagnosed with PMS and age-matched healthy controls. The bacterial composition was analyzed using 16S rRNA gene sequencing, while short-chain fatty acids (SCFAs) were quantified through gas chromatography. Immunological profiling was conducted using a multiplex cytokine assay. Significant differences were observed in the gut microbiota composition between PMS patients and controls, including a lower abundance of key bacterial genera such as Faecalibacterium and Agathobacter in PMS patients. SCFA levels were also reduced in PMS patients. Immunological analysis revealed higher levels of several pro-inflammatory cytokines in the PMS group, although these differences were not statistically significant. The findings indicate that children with PMS have distinct gut microbiota and SCFA profiles, which may contribute to the gastrointestinal and neurodevelopmental symptoms observed in this syndrome. These results suggest potential avenues for microbiota-targeted therapies in PMS.

Few genetic polymorphisms predict early response to anti-TNF drugs in inflammatory bowel disease (IBD), and even fewer have been identified in the pediatric population. However, it would be of considerable clinical interest to identify and validate genetic biomarkers of long-term response. Therefore, the aim of the study was to analyze the usefulness of biomarkers of response to anti-TNFs in pediatric IBD (pIBD) as long-term biomarkers and to find differences by type of IBD and type of anti-TNF drug. The study population comprised 340 children diagnosed with IBD who were treated with infliximab or adalimumab. Genotyping of 9 selected SNPs for their association with early response and/or immunogenicity to anti-TNFs was performed using real-time PCR. Variants C rs10508884 (CXCL12), A rs2241880 (ATG16L1), and T rs6100556 (PHACTR3) (p value 0.049; p value 0.03; p value 0.031) were associated with worse long-term response to anti-TNFs in pIBD. DNA variants specific to disease type and anti-TNF type were identified in the pediatric population. Genotyping of these genetic variants before initiation of anti-TNFs would enable, if validated in a prospective cohort, the identification of pediatric patients who are long-term responders to this therapy.

Introduction: Paediatric malnutrition during hospital admission is a prevalent comorbidity, which is estimated around 31.4% in our environment, and could influence the clinical outcomes of paediatric patients. Objective: The aim of this study was to describe the malnutrition risk in hospitalised children using STAMP (Screening Tool for the Assessment of Malnutrition in Paediatrics), and to study its relationship with clinical outcomes. Methods: A single-centre, analytical and prospective study was conducted on children aged 1 month to 15 years hospitalised in a tertiary hospital between October and December 2017. An analysis was made of the clinical data and anthropometric measurements (weight, height, Waterlow weight classification). Patients were classified according to STAMP, which is a validated screening tool used to classify the risk of paediatric malnutrition during hospital admission. Multivariate statistical analysis was used to identify predictive variables of illness severity. Results: An analysis was made on a total of 200 patients (55% male), with a median age of 15.8 months (IQR 2.5–42.8), and a median length of stay of 3 days (IQR 1–18 days). Almost half (48.3%) of them had high risk of malnutrition at admission (STAMP ≥4), and 48.2% showed medium risk (STAMP 2–3). A higher STAMP score was associated with longer length of hospital stay (P

Resumen: Introducción: La desnutrición en el paciente pediátrico hospitalizado es una comorbilidad prevalente que puede influir en la evolución clínica y se estima en un 31,4% en nuestro medio. Objetivo: Nuestro objetivo fue describir el riesgo de desnutrición de los pacientes que ingresan en nuestro centro, mediante la herramienta Screening Tool for the Assessment of Malnutrition in Paediatrics (STAMP), así como analizar su asociación con la evolución del ingreso hospitalario. Métodos: Se realizó un estudio prospectivo, unicéntrico y analítico desde octubre hasta diciembre de 2017 en pacientes hospitalizados, de edades entre 1 mes y 15 años. Se recogieron variables clínicas y datos antropométricos (peso, talla, peso según Waterlow al ingreso (T0), a las 48 h (T1) y al alta (T2). Se construyeron modelos multivariantes para identificar variables predictoras de gravedad. Resultados: Analizamos a 200 pacientes (55% varones) con una mediana de edad de 15,8 meses (RIQ 2,5-42,8) y una estancia media de 3 días (RIQ 1-18 días). El 48,3% presentaba alto riesgo de desnutrición en T0 (STAMP ≥ 4) y un 48,2% riesgo moderado (STAMP = 2-3). En el análisis bivariante, una mayor puntuación de STAMP se asoció a mayor estancia media (p

Introducción: El empleo de probióticos supone un novedoso avance en el campo de la Pediatría puesto que pueden ser útiles en la prevención y tratamiento de múltiples patologías gastrointestinales, constituyendo un elemento más en nuestro arsenal terapéutico. Objetivo: En este artículo se presenta una revisión actualizada de la literatura científica sobre el uso de los probióticos en Pediatría, principalmente en problemas gastrointestinales con alteración en la microbiota intestinal describiéndose las principales aplicaciones del empleo de los probióticos y prebióticos en la infancia y repasando las líneas de investigación futuras. Resultados y conclusiones: A pesar de existir suficiente evidencia científica en varias patologías, la utilización de probióticos no está del todo incorporado a la práctica clínica habitual de los pediatras. Se emplea en el contexto de las enfermedades gastrointestinales (diarrea aguda infecciosa, la diarrea asociada a antibióticos, sobredesarrollo bacteriano) y, más recientemente, en procesos inflamatorios crónicos como la enfermedad inflamatoria intestinal o en trastornos funcionales como el cólico del lactante o el estreñimiento. También se ha valorado su efecto beneficioso en alteraciones extraintestinales, tales como la alergia (dermatitis atópica) o los efectos sobre las mucosas respiratorias o urogenitales y, en los últimos años, en la prevención de patología del recién nacido pretérmino y en la infección por H. pylori. Además existen varias líneas de investigación abiertas en la suplementación alimentaria con probióticos y prebióticos. Cada cepa probiótica debe ser estudiada individualmente y extensamente para determinar su eficacia y seguridad en todas aquellas situaciones en que su empleo puede ser aconsejable.