This study aimed to develop a severity prediction system for pediatric patients with acute pancreatitis (AP) based on clinical and laboratory parameters recorded at disease onset. A retrospective cohort study including 130 patients with AP, aged 0 to 18 years, was conducted. Correlations between severe AP (SAP) and clinical and laboratory data were established. Parameters with a significant statistical correlation (P ≤ 0.05) were incorporated in logistic regression models, and receiver operating characteristic curves were generated. The best-performance cutoff points were calculated to propose a severity prediction score, for which sensitivity and specificity were determined. Thirty-eight cases (29.2%) were consistent with SAP. A value of ≥1 point yielded a sensitivity of 81.5% and specificity of 64.1% for SAP prediction, when using a score including blood urea nitrogen ≥12.5 mg/dL (1 point) or hemoglobin <13 mg/dL (1 point) as variables. The proposed severity score showed good performance in predicting SAP.

No abstract

Colombia has a high prevalence of mucopolysaccharidosis (MPS) type IVA. Nevertheless, data regarding the mutation spectrum for MPS IVA in this population have not been completely characterized. Forty-seven families and 53 patients from seven different Colombian regions were tested for MPS IVA mutations. We compared the sequences with the N-acetylgalactosamine-6-sulfatase (GALNS) reference sequence NM_000512.4, and gene variants were reported. Bioinformatics analysis was performed using SWISS-MODEL. The mutant proteins were generated by homology from the wild-type GALNS 4FDJ template obtained from the PDB database, and visualization was performed using Swiss-PDBViewer and UCSF Chimera. The predictive analysis was run using different bioinformatic tools, and the deleterious annotation of genetic variants was performed using a neural network. We found that 79% and 21% of the cohort was homozygous and compound heterozygous, respectively. The most frequent mutation observed was p.Gly301Cys (78.3% of alleles), followed by p.Arg386Cys (10.4% of alleles). A novel mutation (p.Phe72Ile) was described and classified in silico as a pathogenic variant. This study reveals the mutation spectrum of MPS IVA in Colombia. The high prevalence of the p.Gly301Cys mutation suggests a founder effect of this variant in the Colombian population that causes diseases in the Andean region (via migration). These data can facilitate genetic counseling, prenatal diagnosis, and the design of therapeutic interventions.

No abstract

La distrofia muscular de Duchenne (DMD) es la miopatía más común en niños, de herencia recesiva ligada al cromosoma X y causada por mutaciones en el gen DMD (Xp21.2). Se caracteriza por atrofia y debilidad muscular progresiva, con consecuentes complicaciones musculoesqueléticas, respiratorias y cardíacas, entre otras. Considerando la alta prevalenciade esta condición (prevalencia mundial 0.5 por cada 10 000 hombres) (1,2) y la importancia del manejo multidisciplinar para el diagnóstico oportuno y el manejo adecuado de los pacientes, se realiza un consenso interdisciplinario de expertos para proponer recomendaciones para el diagnóstico y seguimiento de los pacientes colombianos con DMD