Association between Genetic Polymorphism of SCN1A, GABRA1 and ABCB1 and Drug Responsiveness in Vietnamese Epileptic Children.

Background and Objectives: Drug resistant epilepsy (DRE) is a major hurdle in epilepsy, which hinders clinical care, patients' management and treatment outcomes. DRE may partially result from genetic variants that alter proteins responsible for drug targets and drug transporters in the brain. We aimed to examine the relationship between SCN1A, GABRA1 and ABCB1 polymorphism and drug response in epilepsy children in Vietnam. Materials and Methods: In total, 213 children diagnosed with epilepsy were recruited in this study (101 were drug responsive and 112 were drug resistant). Sanger sequencing had been performed in order to detect six single nucleotide polymorphisms (SNPs) belonging to SCN1A (rs2298771, rs3812718, rs10188577), GABRA1 (rs2279020) and ABCB1 (rs1128503, rs1045642) in study group. The link between SNPs and drug response status was examined by the Chi-squared test or the Fisher's exact test. Results: Among six investigated SNPs, two SNPs showed significant difference between the responsive and the resistant group. Among those, heterozygous genotype of SCN1A rs2298771 (AG) were at higher frequency in the resistant patients compared with responsive patients, playing as risk factor of refractory epilepsy. Conversely, the heterozygous genotype of SCN1A rs3812718 (CT) was significantly lower in the resistant compared with the responsive group. No significant association was found between the remaining four SNPs and drug response. Conclusions: Our study demonstrated a significant association between the SCN1A genetic polymorphism which increased risk of drug-resistant epilepsy in Vietnamese epileptic children. This important finding further supports the underlying molecular mechanisms of SCN1A genetic variants in the pathogenesis of drug-resistant epilepsy in children.

Zona pellucida removal resulted in a successful live birth: Report on a case with recurrent implantation failure due to embryonic bacteria contamination.

Key clinical message: In in vitro fertilization (IVF), laser offers several advantages. In this study, we employed laser to eliminate the zona pellucida of a contaminated embryo. This approach helps to rescue embryo with bacterial contamination, and improve embryo-endometrium interaction. Abstract: To present a case report on the removal of a contaminated zona pellucida from an embryo of patient with a history of recurrent implantation failure (RIF), which was followed by a successful live birth. We present the case of a 34-year-old patient with a history of 3 years of infertility who underwent in vitro fertilization. During the culture process, the embryos became contaminated, leading to three failed implantations. Despite the aneuploidy of the embryo and the implementation of a washing technique, the contamination persisted. In the final attempt, the contaminated zona pellucida was successfully removed using laser, followed by embryo transfer, resulting in a live birth. We provided detailed clinical information, including patient demographics, infertility history, ovarian response, evidence of bacterial contamination, embryo development, treatment protocols, and outcomes. Laser excision of the zona pellucida is a safe and effective method for addressing bacterial infection in embryos.

Pain is common in early onset Parkinson's disease and pain severity is associated with age and worsening of motor and non-motor symptoms.

The consequences of pain in early onset Parkinson's disease (EOPD) remain under appreciated even though pain may exert an increasingly negative impact on patient quality of life as motor and non-motor symptoms worsen. In this prospective study, we investigate the prevalence and severity of pain in 135 Vietnamese patients with EOPD from three medical centers using the King's PD Pain Scale (KPPS), the Mini Mental Status Exam (MMSE), the Unified Parkinson's Disease Rating Scale (UPDRS) and the Non-Motor Symptoms Scale (NMSS). Pain was reported by 79.3%. The most common subtype of pain was musculoskeletal (70.1%), followed by nocturnal (43.9%), radicular (43.0%), chronic (42.1%), fluctuation-related (34.6%) and orofacial pain (16.8%). Most patients (74.8%) experienced more than one pain subtype. Fluctuation-related pain and orofacial pain were significantly more prevalent among patients with higher Hoehn & Yahr (H&Y) stages (3-5) versus lower H&Y stages (1-2). Pain subtype and severity were not significantly related to gender or age of PD onset. Patients with H&Y stages 3-5 had statistically significantly higher KPPS scores for fluctuation-related pain (p = 0.018) and radicular pain (p = 0.026). Independent associations were found between pain severity and age (p = 0.028), depression severity (p = 0.018), perceptual problems/hallucinations (p = 0.033) and sexual function (p = 0.024). Patients with depression and higher H&Y stages (3-5) had statistically significantly higher mean KPPS scores versus patients without depression and at lower H&Y stages (1-2). Pain may be more common and severe in EOPD patients than previously appreciated. Older age, depression, perceptual problems/hallucinations and sexual dysfunction were independently associated with higher pain severity.

The first years of liver transplantation: experiences at a single center.

Background: The aim of this study was to analyze the first stages of progress in liver transplantation (LT) at a single center in Vietnam. Methods: This study analyzed data from patients and donors who participated in the LT program between August 2018 and December 2021 at University Medical Center, Ho Chi Minh City. Study measures included any difficulties encountered, as well as the post-LT outcomes for living donor LT (LDLT) and deceased donor LT (DDLT). The chi-square test and Kaplan Meier survival analysis were used to test the factors that influenced the outcomes. Results: A total of 18 adult recipients with LT (LDLT, n=16; DDLT, n=2) were included (mean age, 55.2±2.6 years; male, 88.9%). The most common post-LT complications were middle hepatic venous stenosis (20%) and graft rejection (22.2%). These complications were observed in LDLT patients. For DDLT, graft rejection (50%) was the only complication recorded. The survival rates for recipients at 3 months, 6 months, and 1 year were 100%, 88.9%, and 88.9%, respectively. The LDs had their right livers without the middle hepatic veins harvested, and biliary leakage (6.25%) was the only complication observed. There were no deaths among recipients or LDs during the operations or hospital stays. Conclusions: This study provides key details about the process of LT, and these positive outcomes support LT as an important therapy for end-stage liver disease and early hepatocellular carcinomas.

Histopathological Alterations in the Livers of Chronic Hepatitis Patients Exposed to Agent Orange/Dioxin in Vietnam.

We investigated changes in some laboratory indices and the liver histology of chronic hepatitis patients who were exposed to dioxin. In 2014, we collected liver biopsy samples for histopathological examination from 33 chronic hepatitis patients living around the Da Nang Airbase, which is a dioxin-contaminated area due to the herbicide spraying in Vietnam. Dioxin exposure was measured by its levels in the blood. METAVIR classification was used to clarify the liver fibrosis stage. Laboratory tests included ten biochemical and six hematological indices that were measured in the blood. A regression linear model and binary logistic regression were used for data analysis. The observed alterations in the liver at the histological level mainly comprised hydropic degenerative hepatocytes, lymphocytes and polynuclear leukocytes surrounding the liver cells and granular and lipoic degeneration. In addition, increased TCDD levels were associated with increasing aminotransferase (AST), alanine aminotransferase, protein and total bilirubin levels and liver fibrosis stage. Similarly, increased TEQ-PCDD/Fs levels were associated with higher levels of AST and protein and liver fibrosis stage. In conclusion, dioxin exposure altered the liver histology and increased some biochemical marker indices and the liver fibrosis stage of chronic hepatitis patients living in dioxin-contaminated areas in Da Nang, Vietnam.

The effect of Non-Motor symptoms on Health-Related quality of life in patients with young onset Parkinson's Disease: A single center Vietnamese Cross-Sectional study.

BACKGROUND: Young onset Parkinson's disease (YOPD) is a distinct entity from typical late onset Parkinson's disease (LOPD). The influene of non-motor features on the health - related quality of life (HRQoL) in LOPD has been previously reported, but little is known about the impact of non-motor features in YOPD. OBJECTIVE: The aim of this study was to explore the relationship between non-motor burden and HRQoL in patients with YOPD. METHODS: This was an observational, cross-sectional study in patients with a PD, whose age at disease onset ranged from 21 to 40 years (YOPD). Participants were assessed with the MDS Unified Parkinson's Disease Rating Scale (MDS-UPDRS), Non-Motor Symptoms Scale (NMSS) and the 39-item Parkinson's Disease Questionnaire (PDQ-39; range 0-100). Spearman's rank test was used to identify correlations between NMSS domains and several dimension of HRQoL. Stepwise multiple linear regression analysis was performed to identify the independent predictors of HRQoL as measured by PDQ-39 summary index. RESULTS: 89 patients with YOPD mean (SD) age = 42.15 (5.84) participated. Patients reported 10.17 (4.74) non-motor symptoms, the most common (75%) and severe (median = 3) of which was was fatigue (IQR = 7). The most frequently reported and severely affected NMSS domain was sleep/fatigue (89.9%, median = 8; IQR = 13) followed by mood/cognition (83.1%, median = 6; IQR = 18) and attention/memory (82%, median = 5; IQR = 8). The mean (SD) summary index of PDQ-39 was 32.89 (16.8). The means (SD) of each PDQ-39 dimensions were: mobility 37.33 (21.96), ADL 42.93 (25.33), emotional well-being 39.77 (25.47), stigma 38.19 (28.44), social support 19.03 (22.89), cognition 29.59 (20.63), communication 26.96 (23.57), and bodily discomfort 29.96 (23.19). With the exception of gastrointestinal tract and sexual function, all other NMSS domain scores were correlated with the PDQ-39 summary index. The multivariate model revealed that three NMSS domains including sleep/fatigue, mood/cognition and attention/memory accompanied with UPDRS part III were independent predictors of HRQoL as measured by PDQ-39SI. CONCLUSIONS: Non-motor symptoms pertaining to sleep disturbances/fatigue, mood/cognition and attention/memory negatively impact HRQoL in patients with YOPD.