RESUMEN
The discovery of rare genetic variation through different gene sequencing methods is a very challenging subject in the field of human genetics. A case of a 1-year-old boy with metabolic acidosis and hypokalemia, a small penis, growth retardation, and G-6PD deficiency was reported. Since the clinical symptoms are complex and seem uncorrelated, the authors hypothesized that the child had chromosome or gene problems, and exome sequencing (ES) was applied to samples from him and his parents. Three main locus mutations in three genes were found in the proband, including SLC4A1, FGFR1, and G6PD genes. A missense mutation (c.1766G>T, p.R589 L) was found in exon 14 of SLC4A1 gene, which was a de novo mutation. Another missense mutation (c.1028 A>G, p.H343R) was found in exon 9 of FGFR1 gene, which was also a de novo mutation. These findings further demonstrate the utility of ES in the diagnosis of rare diseases.
RESUMEN
OBJECTIVE: To assess the role of probiotics in the prevention of neonatal necrotizing enterocolitis (NEC) and to investigate the risk factors for NEC. METHODS: A total of 2528 hospitalized neonates between January 2002 and May 2005 were assigned into either receiving prophylactic use of probiotics bifoco (Prevention group, n=1182) or without probiotics supplementation (Control group, n = 1346). The incidence of NEC was compared between the two groups. The risk factors for NEC were investigated by conditional logistic regression multifactorial analysis. RESULTS: There were 19 cases of NEC in the Control group (1.41%), but only 6 cases in the Prevention group (0.51%) (P < 0.05). Gestational age (OR = 5.521), hypoxicdouble ended arrowischemic encephalopathy (OR = 3.887), specticemia (OR = 4.854) and critical illness scores (OR = 5.989) were the risk factors for NEC, while the prophylactic use of probiotics was an independent protective factor for NEC (OR = 0.255). CONCLUSIONS: The prophylactic use of probiotics may reduce the incidence of NEC in neonates.