[Clinical analysis of early-onset infantile epileptic encephalopathy associated with synonymous variant of the ARHGEF9 gene].

OBJECTIVE: To explore the clinical characteristics of a child with early-onset infantile epileptic encephalopathy type 8 associated with synonymous variant of ARHGEF9 gene. METHODS: Clinical data of the patient was summarized. The child and his parents were subjected to trio-whole exome sequencing. RESULTS: The child has presented with global developmental delay, epilepsy, impulsive behavior, hypersensitivity to sound, and mental retardation. He was found to harbor a de novo synonymous variant c.741C>T (p.Cys247Cys) of the ARHGEF9 gene. RNA splicing analysis confirmed that the variant has led to abnormal splicing of exon 5, resulting in a 55-bp deletion. CONCLUSION: The clinical features of ARHGEF9 gene-related early-onset infantile epileptic encephalopathy type 8 includes mental and motor developmental delay, epilepsy, auditory allergy, and hyperactivity impulsivity. For synonymous variant, in vitro study and transcriptional experiment may be carried out to evaluate its functional and splicing effect. Above finding has enriched the phenotypic and genotypic spectrum of the ARHGEF9 gene.

Efficacy of probiotic therapy in full-term infants with critical illness.

BACKGROUND: Probiotics are microbial supplements that have shown efficacy in a wide range of applications. To assess the safety and effects of enteral probiotics in critically ill neonates. METHODS: A double-blind, randomized controlled trial was conducted in 100 full-term infants with critical illness according to scores of neonatal acute physiology. Fifty neonatal intensive care patients were randomly assigned to receive probiotics three times daily after birth for 8 days, and fifty patients were not given probiotics, but who received a placebo. The incidence of sepsis, multiple organ dysfunction syndrome (MODS), nosocomial pneumonia, and necrotizing enterocolitis were recorded. The prognosis of probiotic treatment was determined based on the rate of recovery and hospital days. Serum IgA, IgG, and IgM concentrations were measured on days 4 and 8. RESULTS: Infants in the probiotics group showed a significantly reduced rate of nosocomial pneumonia (18% versus 36%) and multiple organ dysfunction syndrome (6% versus 16%) compared with the placebo group (p<0.05). Significant results were demonstrated in favour of the probiotics for days of hospital stay (13 ± 3.5 d versus 15.8 ± 5.3 d) (p<0.05). However, there were no significant differences in the occurrence of sepsis, necrotizing enterocolitis, and recovery rate. Patients given probiotics had significantly greater levels of IgA than those in the placebo group (p<0.05). No serious adverse effects in the study population were noted. CONCLUSIONS: Supplements of probiotics to critically ill neonates could enhance immune activity, decrease occurrence of nosocomial pneumonia and MODS, and reduce days in hospital.