Background: X-linked hypophosphatemic rickets is a hereditary disease that generates alterations in bone mineral homeostasis. The morbidity of the condition has been variable in previous decades and even contradictory, probably due to the definition of the case and the diagnostic confirmation. Our propose was to generate evidence-informed recommendations for the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLHR. Results: After the screening and selection process for 1041 documents, 38 were included to answer the questions raised by the developer group. 97 recommendations about the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLHR were approved by the experts consulted through modified Delphi consensus. The quality of the evidence was low. Conclusions: The recommendations proposed here will allow early and timely diagnosis of X-linked hypophosphatemic rickets, while optimizing resources for its treatment and follow-up and help clarify the burden of disease and improve health outcomes for this population.

Background:X-linked hypophosphatemic rickets is a hereditary disease that generates alterations in bone mineral homeostasis. The morbidity of the condition has been variable in previous decades and even contradictory, probably due to the definition of the case and the diagnostic confirmation. Our propose was to generate evidence-informed recommendations for the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLHR. Results:After the screening and selection process for 1041 documents, 38 were included to answer the questions raised by the developer group. 97 recommendations about the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLHR were approved by the experts consulted through modified Delphi consensus. The quality of the evidence was low. Conclusions:The recommendations proposed here will allow early and timely diagnosis of X-linked hypophosphatemic rickets, while optimizing resources for its treatment and follow-up and help clarify the burden of disease and improve health outcomes for this population.

Objetivo: determinar los valores de cortisol salival en un pequeño grupo de escolares y adolescentes sanos entre los 6 y 18 años de edad de Medellín y determinar su relación con el ciclo circadiano según la hora de toma de la muestra. Introducción: el cortisol salival es un ultrafiltrado del cortisol plasmático y refleja los niveles biológicamente activos, este sigue la variación circadiana del cortisol sérico, encontrando los niveles más altos en la mañana y más bajos a media noche. Métodos: se realizó un estudio observacional descriptivo en el que se incluyeron escolares y adolescentes sanos entre 6 y 18 años de edad. Se recolectaron en cada niño dos muestras de saliva, la primera a las 8:00 horas y la segunda a las 23:00 horas de un mismo día. Las muestras fueron procesadas por inmunoensayo enzimático (EIA-ELISA) en Abad Laboratorio de Medellín. Se utilizó el método estadístico de Kolmogorov-Smirnov y Shapiro-Wilk para determinar normalidad. Para la presentación de resultados se utilizaron las medidas de tendencia central y dispersión según normalidad de la variable. Resultados: se analizaron los datos de 31 individuos. El 51.6 % de la población fueron hombres. La edad promedio fue de 11.26 años (±3.4) y el IMC promedio fue de 18.1 kg/m2 (±2.8). Respecto a los niveles de cortisol salival, se obtuvo una mediana de 4.39 ng/ml (RIQ 2.76-6.98) de cortisol salival a las 08:00 a.m.; y para el nivel del cortisol a las 11:00 p.m. se obtuvo una mediana de 0.51 ng/mL (RIQ 0.41-0.84). No hubo diferencias significativas por sexo. Conclusión: el promedio de los valores de cortisol salival en el grupo de escolares y adolescentes sanos de Medellín está dentro de los valores de referencia reportados en estudios internacionales, por lo que se recomienda para el diagnóstico y seguimiento de estados de hiper/hipocortisolismo.

Objectives To characterize the gut microbiome and build a collection of strains capable of metabolizing a specific dietary source rich in choline, from pregnant and lactating women of the region of Antioquia, Colombia Methods Fecal and blood samples were simultaneously collected from volunteers. Microbial cells were anaerobically isolated from fecal samples in an Egg Based Selective (EBS) medium, incubating at 37°C for 7 days. Afterwards, the colony-forming units per gram of fecal sample (CFU/g) were calculated for each volunteer, as the total biomass of culturable microorganisms capable of metabolizing a nutritional source rich in choline. Each bacterial morphology purified in EBS medium and Brain Heart Infusion (BHI) medium was cryopreserved at −80°C. Additionally, blood samples were analyzed by Abad Laboratorio obtaining the lipid profile of each volunteer. Data of CFU/g were analyzed using a non-parametric test. Correlation matrices of the total biomass and the physiological state of the volunteers, each of them with the lipid profile values, were performed in R software. Results Nineteen bacterial morphologies have been isolated, creating the first entries of the strains bank of choline metabolizing microorganisms. Total biomass values were between 1.89E + 08 and 2.10E + 10 CFU/g (± 6.96E + 09) and the Kruskal-Wallis test of total biomass in CFU/g denotes statistical significance among volunteers (P = 0,04). Besides, a significant correlation between the physiological state of volunteers and HDL was found, meaning that the lipid profile is affected during pregnancy and postpartum, as is widely recognized. Nevertheless, a non-previously reported correlation between total cholesterol, LDL and triglycerides with the total culturable choline-metabolizing microbial biomass from pregnant and lactating women was also found. Conclusions Total biomass of culturable choline-metabolizing microbiota is significantly variable among individuals and results suggest it being independent of the physiological state. Lactating and pregnancy states have an impact in the lipid profile, as has been previously reported. However, a novel finding in this study is that culturable microorganisms capable of metabolizing a nutritional source rich in choline as egg, impact the components of the lipidic profile. Funding Sources Universidad EAFIT Abad Laboratorio.