Metabolic and immune development in neonates are shaped by the succession of the gut microbiome. Maternal obesity can perturb this process by altering interactions of human milk bioactive elements, including oligosaccharides (HMOs), microbial populations, and metabolites. We conducted a longitudinal study of Mexican mother-infant dyads to examine maternal BMI-associated variations in HMOs and infant fecal microbiota. Breastmilk samples from 97 mothers were collected at 48 h, one month, and three months postpartum. We used targeted and untargeted metabolomics to profile breastmilk samples, while shotgun metagenomics was used to analyze infant fecal microbiome composition in a subset of samples. Mothers with obesity showed decreased concentration of key HMOs shortly after birth, correlating with an altered succession of their infant's gut microbiota. This included reduced early colonizers (Enterobacteriaceae) and increased abundance of intermediate and late colonizers (Bifidobacterium and members of the Lachnospiraceae family), over subsequent months. These taxa negatively correlated with HMOs such as 6'SL, LNnT, and LNT. Additionally, functional profiling revealed alterations in metabolic pathways related to polyamine biosynthesis, suggesting changes in microbial metabolism linked to maternal BMI. Despite the cohort's size, our study offers unique insights into the relationship between maternal obesity, HMO composition, and early infant microbial colonization in Latin-American mothers. This exploratory research serves as proof of concept, underscoring the need for larger-scale studies to validate these findings and better understand their implications for infant health. More importantly, our results highlight the interplay between maternal BMI and human milk bioactives, underscoring the importance of correlating microbial succession with maternal metabolic health to better understand early immune development in neonates.
We report a 5-year-old Spanish male with a homozygous SPOUT1 variant (NM_016390.4:c.1058C>T; p.Thr353Met), identified by re-analysis of whole-genome sequencing. His phenotype includes severe developmental delay, microcephaly, epilepsy evolving to Lennox-Gastaut-like syndrome, growth impairment, dysmorphic features, and multiple congenital anomalies. Our case expands the SPOUT1-related neurodevelopmental spectrum and underscores the diagnostic value of periodic genomic data re-analysis.
Introducción: La nefropatía por IgA es la glomerulopatía más común a nivel mundial, afectando principalmente a personas en su segunda y tercera década de vida. Se caracteriza por hematuria y proteinuria, lo que puede llevar al deterioro de la función renal. Objetivo: Identificar factores sociodemográficos y clínico-patológicos asociados con la disminución de la tasa de filtración glomerular (TFG) en pacientes diagnosticados con nefropatía por IgA en el Caribe Colombiano entre 2018 y 2022. Métodos: Estudio transversal analítico basado en la revisión de 36 historias clínicas con diagnóstico confirmado de nefropatía por IgA, con biopsias realizadas entre 2018 y 2022 en instituciones del Caribe Colombiano. Se evaluó la relación entre variables clínicas y sociodemográficas con la TFG. Resultados: Los pacientes con TFG reducida presentaron mayor edad (32 ± 10,9 vs 46,9 ± 8,88 años; p = 0,002). Las lesiones T1 en biopsia renal (0% vs 71,4%; p = 0,001), depósitos de C3 (24,1% vs 71,4%; p = 0,029) e IgM positiva (24,1% vs 85,7%; p = 0,005) se asociaron significativamente con TFG baja. En el análisis multivariado, la presencia de lesión S1 (OR 20,1; IC 1,03–392; p = 0,048) y depósitos de C3 (OR 12,4; IC 1,06–146; p = 0,045) aumentó la probabilidad de TFG ≤ 60 ml/min/1,73 m². Conclusión: Las lesiones T1 y S1, junto con los depósitos de C3, se asocian con mayor riesgo de deterioro significativo de la función renal en pacientes con nefropatía por IgA.
Cross-sectional cardiac imaging including cardiac computed tomography (CCT) and cardiac magnetic resonance imaging (CMR) allows three-dimensional imaging of intracardiac and extracardiac structures. This study was undertaken to better understand current European practice of pediatric cardiology cross-sectional imaging, in addition to how training is undertaken in different centers. A structured detailed 64-question survey focusing on cross-sectional imaging was circulated to all Imaging Working Group members of the 95 AEPC affiliated centers. Consultants from 42 centers (44
