BACKGROUND AND PURPOSE: Dravet syndrome is a rare and severe type of epilepsy in infants. The heterogeneity in the overall intellectual disability that these patients suffer from has been attributed to differences in genetic background and epilepsy severity. METHODS: Eighteen Vietnamese children diagnosed with Dravet syndrome were included in this study. SCN1A variants were screened by direct sequencing and multiplex ligation-dependent probe amplification. Adaptive functioning was assessed in all patients using the Vietnamese version of the Vineland Adaptive Behavior Scales, and the results were analyzed relative to the SCN1A variants and epilepsy severity. RESULTS: We identified 13 pathogenic or likely pathogenic variants, including 6 that have not been reported previously. We found no correlations between the presence or type of SCN1A variants and the level of adaptive functioning impairment or severity of epilepsy. Only two of nine patients aged at least 5 years had an adaptive functioning score higher than 50. Both of these patients had a low frequency of convulsive seizures and no history of status epilepticus or prolonged seizures. The remaining seven had very low adaptive functioning scores (39 or less) despite the variability in the severity of their epilepsy confirming the involvement of factors other than the severity of epilepsy in determining the developmental outcome. CONCLUSIONS: Our study expands the spectrum of known SCN1A variants and confirms the current understanding of the role of the genetic background and epilepsy severity in determining the developmental outcome of Dravet syndrome patients.
Adaptation, Psychological ; Asian Continental Ancestry Group* ; Child* ; Epilepsies, Myoclonic* ; Epilepsy ; Genetic Background ; Humans ; Infant ; Intellectual Disability ; Multiplex Polymerase Chain Reaction ; Population Characteristics ; Seizures ; Status Epilepticus ; Weights and Measures

Backgroud: The aim of this study is to update on antibiotic resistance of common pathogenical bacteria isolated in Hue University of Medicine and Pharmacy Hospital (Hue UMP Hospital). Methodology: Use of the agar disk diffusion method to test the susceptibility to antimicrobial agents of 3709 bacterial strains from infected patients hospitalized in Hue UMP Hospital in 2020 - 2022. Results: Among 3709 strains of pathogenical bacteria isolated, S.aureus was found with the rate of 29.9%, followed by E. coli (24.5%), Pseudomonas aeruginasa (17.8%), Enterococcus spp. (11.8%), Klebsiella spp (9.7%) and Acinetobacter spp (4.1%). The proportion of bacterial isolates has changed, but Staphylococcus aureus is still highest rate. S.aureus is resistant to many antibiotics, but MRSA strains have decreased significantly, from 73.3% in 2020 to 62.5% in 2022. Pseudomonas aeruginosa was resistant to some of the group A recommended antibiotics such as ceftazidime, piperacillin-tazobactam with the rate of 56.6% and 48.7%. The percentage of E. coli with ESBL strains (+) was at 28.2% - 30.3%. Enterococus spp strains are still sensitive to vancomycin (83.1% - 91.9%). The rate of Klebsiella ESBL (+) is only 6.9% to 8.2%. The strains of Acinetobacter spp were highly resistant to Piperacillin (100%) and Ceftriaxone (96.5%) but they are still sensitive to imipenems 70 - 71%, highly sensitive to Doxycillin (95.2%) and Cefotaxime (88.4%). Conclusion: Many bacterial strains are resistant to many commonly antibiotics. Providing timely, regular, and effective management of antibiotic resistance patterns for common pathogenic bacteria in hospitals, will help reduce the risk of bacterial resistance.