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SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome
Thi Thu Hang Do,Diem My Vu,Thi Thuy Kieu Huynh,Thi Khanh Van Le,손은화,Thieu Mai Thao Le,Huu Hao Ha,Chi Bao Bui 대한신경과학회 2017 Journal of Clinical Neurology Vol.13 No.1
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.
Dynamic stability of cholesterol and desmosterol in human milk from four asian countries
김지은,My Tuyen Thi Nguyen,김용기,정지아,Dan Li,Mai Xuan Hong To,Huynh Khanh Trang Nguyen,Beenish Israr,Thanh Van Le,안현주,김재한 한국식품과학회 2022 Food Science and Biotechnology Vol.31 No.12
Cholesterol is one of the functional nutrients in human milk, which is indispensable for infant growth. In this study, the concentration of cholesterol and desmosterol in human milk from four Asian countries (n = 578), including Korea, China, Vietnam, and Pakistan, were investigated. The average cholesterol concentrations of Korea and China were similar ranging between 90.2–91.6 mg/L, but those from Vietnam and Pakistan were higher at 113.8 and 175.7 mg/L, respectively. The relative standard deviations were 31–36%, except for Pakistan (51%), showing a broad distribution of 48 to 612 mg/L. Desmosterol concentrations were similar, ranging between 11.2 and 12.8 mg/L except for Pakistan, which was lower than other countries at 9.4 mg/L. In addition, the cholesterol and desmosterol concentrations during the lactation periods were not significantly different in all four Asian countries. Mothers’ BMI did not significantly impact the cholesterol and desmosterol concentration in maternal milk within the same country.
김혜권,유광수,Thi My Le Huynh,문형준,Van Giap Nguyen,박봉균 대한수의학회 2017 Journal of Veterinary Science Vol.18 No.2
There are high levels of co-incidence of porcine reproductive and respiratory syndrome virus (PRRSV) and porcine circovirus type 2 (PCV2) in porcine tissue. This study established a duplex nested reverse transcriptase polymerase chain reaction (RT-PCR) method that targets the genomic RNA of type 2 PRRSV and the mRNA of PCV2 in infected tissues. The method amplified discriminative bands of 347 bp and 265 bp specific for type 2 PRRSV and PCV2, respectively. The limits of detection of the duplex nested RT-PCR were 101.5 TCID50/mL for type 2 PRRSV and 102 infected cells/mL for PCV2. The kappa statistic, which measures agreement between methods, was 0.867, indicating a good level of agreement. This RNA-based duplex RT-PCR approach can be another way to detect type 2 PRRSV and PCV2 simultaneously and with improved convenience.
Characterization of Ag-Doped p-Type SnO Thin Films Prepared by DC Magnetron Sputtering
Pham, Hoai Phuong,Thuy, Thanh Giang Le,Tran, Quang Trung,Nguyen, Hoang Hung,My Hoa, Huynh Tran,Thi Thu, Hoang,Cuong, Tran Viet Hindawi Limited 2017 Journal of nanomaterials Vol.2017 No.-
<P>Crystalline structure and optoelectrical properties of silver-doped tin monoxide thin films with different dopant concentrations prepared by DC magnetron sputtering are investigated. The X-ray diffraction patterns reveal that the tetragonal SnO phase exhibits preferred orientations along (101) and (110) planes. Our results indicate that replacing Sn<SUP>2+</SUP> in the SnO lattice with Ag<SUP>+</SUP> ions produces smaller-sized crystallites, which may lead to enhanced carrier scattering at grain boundaries. This causes a deterioration in the carrier mobility, even though the carrier concentration improves by two orders of magnitude due to doping. In addition, the Ag-doped SnO thin films show a p-type semiconductor behavior, with a direct optical gap and decreasing transmittance with increasing Ag dopant concentration.</P>