Consenso de expertos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento de enfermedad de Fabry en pediatría

Antecedentes: La enfermedad de Fabry (EF) es una enfermedad rara ligada a X secundaria al depósito lisosomal de glicoesfingolípidos debido a la deficiencia de la enzima alfa galactosidasa A (α-Gal A). A pesar de su baja frecuencia, es una condición que afecta la calidad de vida de los pacientes y disminuye su esperanza de vida. Objetivo: Generar recomendaciones informadas en evidencia para el diagnóstico y tratamiento de pacientes pediátricos (menores de 8 años) con EF. Métodos: Se realizó una revisión de literatura en bases de datos y literatura gris a partir del 2010, incluyendo guías de práctica clínica, revisiones sistemáticas, estudios primarios. La calidad de evidencia se evalúo de acuerdo con el tipo de evidencia. Las recomendaciones se sometieron a consenso de expertos a través de metodología Delphi modificada. El acuerdo se definió a partir del 80%. Resultados: A partir del análisis de la evidencia recolectada, se formularon un total de 45 recomendaciones para tamización, diagnóstico y tratamiento de paciente pediátrico con enfermedad de Fabry. El panel revisor estuvo conformado por once expertos en el tema. Las recomendaciones fueron aprobadas con puntuaciones entre 82.3% y 100%. Conclusiones: Las recomendaciones resultantes del consenso de expertos permitirán la toma de decisiones clínicas y estandarización de la práctica en la atención de pacientes pediátricos con EF a nivel nacional y regional; el diagnóstico temprano y oportuno garantiza una disminución del impacto en la calidad de vida de los pacientes y sus familiares. Palabras clave: Enfermedad de Fabry, niños, diagnóstico, terapeutica, biomarcadore

Reduction of Salt and Fat in Frankfurter Sausages by Addition of Agaricus bisporus and Pleurotus ostreatus Flour

The reduction of fat and salt and the incorporation of fiber-rich compounds in frankfurters is a trend to improve their nutritional profile. The objective of this study was to evaluate the partial replacement of 30 and 50% of pork backfat and 50% of salt by adding edible mushroom flour (2.5 and 5%) from Agaricus bisporus (Ab) and Pleurotus ostreatus (Po) on physicochemical, microbiological and sensory properties of frankfurters sausages during cold storage. The addition of flours increased the moisture, and the dietary fiber contents in frankfurters, keeping the amino acid profile. Lipid oxidation remained under acceptable values despite not antioxidant effect was observed by mushrooms flours. Only spore-forming bacteria were found during cold storage. Color and texture was modified by addition of mushroom, being the Ab samples darker, while Po flour addition resulted in softer and less cohesive sausages. Although lower color, flavor, and taste scores were given to the mushroom samples than the control, they ranked in the acceptable level confirming that the inclusion of 2.5 and 5% of Ab and Po flours in fat- and salt-reduced frankfurter sausages resulted a feasible strategy to enhance the nutritional profile these products

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

Introduction and Objectives: Niemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4–0.6/100,000. They are caused by a deficiency in acid sphingomyelinase, an enzyme encoded by SMPD1. We analyzed the phenotype and genotype of four unrelated Mexican patients, one with NPD-A and three with NPD-B. Patients and methods: Four female patients between 1 and 7 years of age were diagnosed with NPD-A or NPD-B by hepatosplenomegaly, among other clinical characteristics, and by determining the level of acid sphingomyelinase enzymatic activity and sequencing of the SMPD1 gene. Additionally, a 775 bp amplicon of SMPD1 (from 11:6393835_6394609, including exons 5 and 6) was analyzed by capillary sequencing in a control group of 50 unrelated healthy Mexican Mestizos. Results: An infrequent variant (c.1343A>G p.Tyr448Cys) was observed in two patients. One is the first NPD-A homozygous patient reported with this variant and the other a compound heterozygous NPD-B patient with the c.1829_1831delGCC p.Arg610del variant. Another compound heterozygous patient had the c.1547A>G p.His516Arg variant (not previously described in affected individuals) along with the c.1805G>A p.Arg602His variant. A new c.1263+8C>T pathogenic variant was encountered in a homozygous state in a NPD-B patient. Among the healthy control individuals there was a heterozygous carrier for the c.1550A>T (rs142787001) pathogenic variant, but none with the known pathogenic variants in the 11:6393835_6394609 region of SMPD1. Conclusions: The present study provides further NPD-A or B phenotype-genotype correlations. We detected a heterozygous carrier with a pathogenic variant in 1/50 healthy Mexican mestizos