Metastatic melanoma to the urinary bladder with synchronous or metachronous metastasis to other organs: Clinicopathological characteristics and outcome.

INTRODUCTION AND IMPORTANCE: Bladder metastatic melanoma is a very uncommon condition. CASE PRESENTATION: On 62 reported cases, 55 studies have been done so far. We describe a 53-year-old woman with a hematuria who underwent transurethral resection of bladder lesions caused by metastatic melanoma for eight years ago after receiving her initial diagnosis of cutaneous malignant melanoma. CLINICAL DISCUSSION: We also review the medical literature to determine the prognosis of bladder metastatic melanoma. Synchronous metastases with metastatic melanoma to the bladder also reduces the mean survival compared with patients with metachronous metastases. CONCLUSION: Bladder metastatic melanoma combined with other factors, such as male, lymph node metastases, primary skin tumor, two or more bladder metastatic foci, and synchronous metastases are predictors of worse prognosis.

Orthodontic Treatment for Borderline Class III Malocclusion in Adults: Nonextraction Treatment with Anterior Bite Turbo: A Case Report.

Retrusive upper lips, retroclined upper incisors, a shorter midface, and a larger maxillary-mandibular difference are the characteristics of borderline Class III malocclusion. Individuals with borderline Class III malocclusion frequently exhibit certain morphologic, dental, and skeletal traits, which should aid in the diagnosis of the condition. To report the case of a 22-year-old Vietnamese woman who complained of having tense front teeth and lacking confidence when smiling. Medical history did not find anything strange, there was root canal treatment of the first premolar on the left of the upper jaw, asymmetrical concave chin, and right deviation. Orthodontic camouflage treatment using anterior bite turbos in combination with early light short Class III elastics and box elastics was proposed since the patient declined to have orthognathic surgery. In just 10 months of treatment, a Class I molar and canine relationship was created, an anterior crossbite was corrected via mandibular retraction, and severe skeletal malocclusions were successfully treated without orthognathic surgery. Smiling currently showcases the patient's maxillary incisors more prominently, and her lower lip fullness has diminished, giving her a more attractive smile and a significant improvement to her facial profile.

HLA alleles associated with susceptibility and severity of the COVID-19 in Vietnamese.

The diversity of clinical manifestations in COVID-19 has been observed not only among individuals but also among various populations in globally. HLA molecules play a central role in physiology, protective immunity, and deleterious, disease-related autoimmune reactivity or overreaction. This study exploited the association between HLA frequencies and SARS-CoV-2 susceptibility and disease severity among the Vietnamese cohort (159 patients and 52 controls). A significant difference in frequency of both HLA class I and II in mild, moderate, and severe/fatal COVID-19 patients and negative exposure individuals - the controls were observed. Regarding SARS-CoV-2 sensitivity, HLA-A*03:01, 30:01, HLA-DQA1*01:02, DRB1*15:01, and DRB5*02:02 presented higher frequency in the control group compared with infected patients but DRB1 09:01 frequency was higher in infected patients. Regarding COVID-19 severity, HLA-F*01:01, 01:03 and DPA1*01:03 and 02:01, DPB1*04:01, DQA1*01:02, and DQB1*05:02 alleles were detected with higher frequency in severe patients but DOB*01:01, DRB1*05:01 and 09:01 had a significantly higher frequency in the mild group than remaining groups. Surprisingly, HLA-DQA1*01:02 and DRB1*09:01 alleles were identified with both inversely potential roles in protective function and severe risk. The obtained data herein will contribute to explore on the role of host genetic background in the pathology of COVID-19 disease.

Delayed duodenal/gastric fistula resulting in persistent perihepatic abscesses as a late complication of laparoscopic cholecystectomy.

Since the early 1990's, laparoscopic cholecystectomy has become the gold standard for the treatment of symptomatic gallbladder disease. Although the incidence of postoperative complications is generally lower with this approach, gallbladder perforation represents a serious risk that is among the most common complications of laparoscopic cholecystectomy. The sequalae that can follow iatrogenic perforation have not been well documented and only a few case reports exist in the current literature. In this paper we discuss two case reports of delayed perihepatic abscesses following prior laparoscopic cholecystectomy, ultimately resulting in fistulous tracts. The course of the disease is discussed along with the diagnostic workup and eventual successful management of the aforementioned complications. Treating enteric fistulae requires a systematic approach and is carried out in phases. Enteric fistula formation following laparoscopic cholecystectomy is a rare complication of retained gallstones that can present months to years following the index operation. Significant care should be taken to avoid perforation and all efforts should be made to retrieve stones if spillage occurs.

Survey data of Gen Z customer behaviour using food delivery applications in Vietnam.

This study presents an analysis based on data collected via questionnaire, surveying Gen Z customers using food delivery applications in Vietnam. The purpose of the original research was to investigate factors influencing Gen Z customers' decision to continue using the applications. The data set presented in this paper includes 361 valid responses that were collected by convenience sampling method from Hanoi and Hochiminh City, which are the two most potential regions of e-commerce transactions in Vietnam. After being collected, sorted, and filtered, the data was calculated by SPSS 22 and AMOS 23 software to extract descriptive analysis, Cronbach's Alpha, and confirmatory factor analysis (CFA). The calculation results indicated that this data set ensures reliability, convergent, and discriminant validity, which can serve as a good reference for future studies.

Favorable outcome of a histiocytic sarcoma patient treated with immune checkpoint inhibitor: a case report.

Introduction and Importance: Histiocytic sarcoma (HS) is an extremely rare malignancy in which there has been no standard treatment approach. Some preclinical studies have provided rationales for the application of immunotherapy in advanced HS. Case Presentation: The authors reported a case of a 61-year-old patient with metastatic HS who had a rapid progression on ifosfamide, carboplatin, and etoposide chemotherapy. The authors performed PD-L1 testing, which showed a strong positivity in 90% of tumor cells. The patient was then treated with pembrolizumab 200 mg every 3 weeks. He refused palliative radiotherapy. A dramatic response in all sites was recorded on the PET-CT scan after three cycles. He was maintained on pembrolizumab, reaching over 30 months without disease progression. Clinical Discussion: Recent molecular data suggests there could be a role of immunotherapy in HS. In our patient, the disease was refractory to chemotherapy and pembrolizumab has been given based on the strong PD-L1 expression. Response to immunotherapy has also been recorded in several cases with malignant histiocytic neoplasm. Conclusion: Immunotherapy might bring sustained disease remission in PD-L1 high expression HS and further studies evaluating the role of immune checkpoint inhibitor in this disease are warranted.

Orally administered boldine reduces muscle atrophy and promotes neuromuscular recovery in a rodent model of delayed nerve repair.

Peripheral nerve injury often results in poor functional recovery due to a prolonged period of muscle denervation. In particular, absent axonal contact, denervated muscle can undergo irrevocable atrophy and diminished receptiveness for reinnervation over time, ultimately reducing the likelihood for meaningful neuromuscular recovery. While innovative surgical approaches can minimize the harmful effects of denervation by re-routing neighboring-otherwise uninjured-axons, there are no clinically-available approaches to preserve the reinnervation capacity of denervated muscles. Blocking intramuscular connexin hemichannel formation has been reported to improve muscle innervation in vitro and prevent atrophy in vivo. Therefore, the current study investigated the effects of orally administered boldine, a connexin hemichannel inhibitor, on denervated-related muscle changes and nerve regeneration in a rat model of delayed peripheral nerve repair. We found that daily boldine administration significantly enhanced an evoked response in the tibialis anterior muscle at 2 weeks after common peroneal nerve transection, and decreased intramuscular connexin 43 and 45 expression, intraneural Schwann cell expression of connexin 43, and muscle fiber atrophy up to 4 weeks post transection. Additional animals underwent a cross nerve repair procedure (tibial to common peroneal neurorrhaphy) at 4 weeks following the initial transection injury. Here, we found elevated nerve electrophysiological activity and greater muscle fiber maturation at 6 weeks post repair in boldine treated animals. These findings suggest that boldine may be a promising pharmacological approach to minimize the deleterious effects of prolonged denervation and, with further optimization, may improve levels of functional recovery following nerve repair.

Role of hyperglycemia in cystic fibrosis pulmonary exacerbations.

BACKGROUND: Hyperglycemia could affect treatment response during cystic fibrosis (CF) exacerbations. We aimed to evaluate the prevalence and associations of hyperglycemia with exacerbation outcomes. We also evaluated feasibility of continuous glucose monitoring (CGM) during exacerbations. METHODS: The STOP2 study assessed efficacy and safety of different durations of intravenous antibiotics for CF exacerbations. We conducted a secondary data analysis of random glucose levels measured as part of clinical care during exacerbations. A small subset of participants also underwent CGM per research protocol. The associations between hyperglycemia, defined as random glucose ≥140 mg/dL, and changes in weight and lung function with exacerbation treatment were evaluated with linear regression after adjustment for confounding variables. RESULTS: Glucose levels were available for 182 STOP2 participants of mean (SD) age 31.6 (10.8) years, baseline percent predicted (pp) FEV1 53.6 (22.5); 37% had CF related diabetes and 27% were on insulin. Hyperglycemia was detected in 44% of participants. Adjusted mean difference (95% CI) was 1.34% (-1.39, 4.08) (p = 0.336) for change in ppFEV1 and 0.33 kg (-0.11, 0.78) (p = 0.145) for change in weight between hyperglycemic and non-hyperglycemic groups. Ten participants not on antidiabetic agents in the 4 weeks prior to enrollment underwent CGM; mean (SD) time spent >140 mg/dL was 24.6% (12.5) with 9/10 participants spending >4.5% time >140 mg/dL. CONCLUSIONS: Hyperglycemia identified with random glucose is prevalent during CF exacerbations but not associated with changes in lung function or weight with exacerbation treatment. CGM is feasible and may provide a useful tool for hyperglycemia monitoring during exacerbations.

Effectiveness of bee venom acupuncture for patients suffering from periarthritis humeroscapularis.

OBJECTIVE: To evaluate the efficacy of bee venom acupuncture in humeroscapularis (PHS) patients. METHODS: One hundred and twenty patients diagnosed with PHS were assigned into four groups: BV1 (0.01 mg/kg), BV2 (0.005 mg/kg), BV3 (0.0025 mg/kg), and control group (vitamin B1 plus novocain 3% injection) with 15 d of treatment. The outcomes of the study including visual analogue scale (VAS) score and ß-endorphin, inflammatory cytokines including interleukin-10 (IL-10), IL-1ß and tumor necrosis factor α (TNF-α) and shoulder function score were assessed at baseline, after 10 and 15 d of treatment. RESULTS: All four groups reported statistically significant improvement in VAS score, motion range, and shoulder function score ( < 0.01), only the BV3 group showed significant increase of anti-inflammatory (IL-10) and decrease of pro-inflammatory (IL-1ß, TNF-α) cytokines after treatment ( < 0.05). The BV3 group presented a significant difference between all outcomes compared to the control and other groups. CONCLUSION: BV3 groups showed better recovery including reduced pain, improved motor function and normalized inflammatory cytokines than current therapy used in Vietnam and other groups.

Effectiveness on post-stroke hemiplegia in patients: electroacupuncture plus cycling electroacupuncture alone.

OBJECTIVE: To evaluate the effectiveness of cycling in combination with electroacupuncture in treatment of post-stroke hemiplegia patients at National Hospital of Acupuncture, Vietnam. METHODS: The study was designed as a single-centre, outcome-assessor-blinded parallel randomised controlled trial with 120 post-stroke hemiplegia patients randomly assigned into two groups: electroacupuncture plus cycling (CT group) and electroacupuncture (AT group). Patients were assessed before and after the treatment (using muscle grading, modified Rankin, Barthel, Orgorozo scores and electromyography). Statistical Man-Whitney U test, and Fisher's exact tests were used to compare between CT and AT groups. RESULTS: The results reported statistically significant improvement in motor function in patients suffering from hemiplegia following ischemic stroke in both CT and AT groups. Patients in CT group experienced a greater improvement compared to those in AT group including better muscle contraction (increased frequency and amplitude of electromyography and increased muscle grading scale); increased recovery (Orgogozo scale), increased independency (Barthel scale) and decreased disability (Modified Rankin scale) (< 0.01). CONCLUSIONS: Combination with cycling training significantly improves the recovery of post-stroke patients treated with electroacupuncture.

SULT1A1-dependent sulfonation of alkylators is a lineage-dependent vulnerability of liver cancers.

Adult liver malignancies, including intrahepatic cholangiocarcinoma and hepatocellular carcinoma, are the second leading cause of cancer-related deaths worldwide. Most individuals are treated with either combination chemotherapy or immunotherapy, respectively, without specific biomarkers for selection. Here using high-throughput screens, proteomics and in vitro resistance models, we identify the small molecule YC-1 as selectively active against a defined subset of cell lines derived from both liver cancer types. We demonstrate that selectivity is determined by expression of the liver-resident cytosolic sulfotransferase enzyme SULT1A1, which sulfonates YC-1. Sulfonation stimulates covalent binding of YC-1 to lysine residues in protein targets, enriching for RNA-binding factors. Computational analysis defined a wider group of structurally related SULT1A1-activated small molecules with distinct target profiles, which together constitute an untapped small-molecule class. These studies provide a foundation for preclinical development of these agents and point to the broader potential of exploiting SULT1A1 activity for selective targeting strategies.

Oncogenic PKA signaling increases c-MYC protein expression through multiple targetable mechanisms.

Genetic alterations that activate protein kinase A (PKA) are found in many tumor types. Yet, their downstream oncogenic signaling mechanisms are poorly understood. We used global phosphoproteomics and kinase activity profiling to map conserved signaling outputs driven by a range of genetic changes that activate PKA in human cancer. Two signaling networks were identified downstream of PKA: RAS/MAPK components and an Aurora Kinase A (AURKA)/glycogen synthase kinase (GSK3) sub-network with activity toward MYC oncoproteins. Findings were validated in two PKA-dependent cancer models: a novel, patient-derived fibrolamellar carcinoma (FLC) line that expresses a DNAJ-PKAc fusion and a PKA-addicted melanoma model with a mutant type I PKA regulatory subunit. We identify PKA signals that can influence both de novo translation and stability of the proto-oncogene c-MYC. However, the primary mechanism of PKA effects on MYC in our cell models was translation and could be blocked with the eIF4A inhibitor zotatifin. This compound dramatically reduced c-MYC expression and inhibited FLC cell line growth in vitro. Thus, targeting PKA effects on translation is a potential treatment strategy for FLC and other PKA-driven cancers.

Genetic variations of antioxidant genes and their association with male infertility in Vietnamese men.

BACKGROUND: Antioxidant genes, such as superoxide dismutase (SOD), catalase (CAT), and nitric oxide synthase (NOS), play critical roles in spermatogenesis and sperm functions. Polymorphisms of antioxidant genes have been shown to be strongly associated with sperm quality which affects male fertility. METHODS: To investigate the association of antioxidant gene polymorphisms to male infertility in Vietnamese men, in this case-control study, using Sanger sequencing, we genotyped four variants SOD1:7958G>A, SOD2:c.47T>C, CAT:-262C>T, and NOS3:-786C>T. RESULTS AND CONCLUSIONS: We identified SOD1:7958GA genotype and NOS3:-786CT genotype in the infertility group were significantly higher than in the control with OR = 2.191 (95% CI: 1.226-3.915, p = 0.004) and OR = 3.135 (95% CI: 1.591-6.180, p < 0.001), respectively. We also detected that the frequency of the SOD2:c.47TC genotype was significantly higher in the male infertility group than in fertile men (OR = 1.941, 95% CI: 1.063-3.595, p = 0.029). Gene-gene interactions between the SNPs of SOD1, SOD2, and CAT might increase the risk of male infertility patients. In particular, patients carrying the SOD1:GA+AA, SOD2:TC+CC, and CAT:CT/TT genotype pattern have an increased risk of male infertility (OR = 7.614, p = 0.007). To our knowledge, this is the first study to evaluate the association between the SOD1:7958G>A polymorphism and male infertility. Further studies with larger sample sizes and more genes are needed to better assess the association between variants of antioxidant genes and male infertility.

Elexacaftor/tezacaftor/ivacaftor and gastrointestinal outcomes in cystic fibrosis: Report of promise-GI.

BACKGROUND: Elexacaftor/tezacaftor/ivacaftor (ETI) improves pulmonary disease in people with cystic fibrosis (PwCF), but its effect on gastrointestinal symptoms, which also affect quality of life, is not clear. METHODS: PROMISE is a 56-center prospective, observational study of ETI in PwCF >12 years and at least one F508del allele. Gastrointestinal symptoms, evaluated by validated questionnaires: Patient Assessment of Upper Gastrointestinal Disorders-Symptom (PAGI-SYM), Patient Assessment of Constipation-Symptom (PAC-SYM), Patient Assessment of Constipation-Quality of Life (PAC-QOL)), fecal calprotectin, steatocrit and elastase-1 were measured before and 6 months after ETI initiation. Mean difference and 95% confidence intervals were obtained from linear regression with adjustment for age and sex. RESULTS: 438 participants fully completed at least 1 questionnaire. Mean (SD) for baseline PAGI-SYM, PAC-SYM, and PAC-QOL total scores were 0.56 (0.59), 0.47 (0.45), and 0.69 (0.53) out of maximum 5, 4, and 5, respectively (higher score indicates greater severity). Corresponding age- and sex-adjusted 6 months mean changes (95% CI) in total scores were -0.15 (-0.21, -0.09) for PAGI-SYM, -0.14 (-0.19, -0.09) for PAC-SYM, and -0.15 (-0.21, -0.10) for PAC-QOL. While statistically significant, changes were small and unlikely to be of clinical importance. Fecal calprotectin showed a change (95% CI) from baseline of -66.2 µg/g (-86.1, -46.2) at 6 months, while fecal elastase and steatocrit did not meaningfully change. CONCLUSIONS: After 6 months of ETI, fecal markers of inflammation decreased. Gastrointestinal symptoms improved, but the effect size was small. Pancreatic insufficiency did not improve.

Multicenter prospective study showing a high gastrointestinal symptom burden in cystic fibrosis.

BACKGROUND AND AIMS: People with cystic fibrosis (PwCF) suffer from gastrointestinal (GI) symptoms affecting their quality of life (QOL). Despite the relevance of GI symptoms to the overall health of PwCF, a paucity of studies only have comprehensively assessed the prevalence, severity and QOL of GI symptoms in both children and adults with Cystic Fibrosis (CF). METHODS: Eligible participants ≥2 years of age across 26 US CF centers were followed for 4 weeks. Three validated GI electronic patient-reported outcome measures (ePROMs) with a recall period of 2 weeks and a stool-specific questionnaire were administered weekly over four weeks. Total and domain scores of ePROMs were evaluated overall and in subgroups using linear mixed-effect models. RESULTS: Of 402 enrolled, 58% were ≥ 18 years of age (52% male). The mean (SD) of the total score for PAC-SYM was 0.52 (0.55), for PAGI-SYM was 0.63 (0.67), and for PAC-QOL was 0.67 (0.55). For specific ePROM questions, prevalence of moderate to very severe symptoms were as follows: straining (20.3%), fullness (18.3%), incomplete bowel movements (17.1%), bloating (16.4%), distension (16.4%), abdominal pain (upper-5.1%, lower-7.5%). Comparing participants ≥18 versus <18, a higher prevalence of bloating (63.7% versus 27.3%), lower abdominal pain (39.8% vs 26.2%), stomach fullness (75.6% versus 56.2%), and abdominal distension (60.2% versus 34.9%) was found. Both age groups reported high treatment dissatisfaction as measured with PAC-QOL, mean 1.39 (95% CI: 1.30, 1.47). CONCLUSION: GI symptoms were reported in all age ranges irrespective of gender, with higher prevalence observed amongst older and female subgroups. Dissatisfaction with GI targeted treatments were reported in a large proportion of participants despite therapy, highlighting an unmet need for clinical interventions. CLINICALTRIALS: GOV: NCT03801993.

Patients' Active Participation in Postoperative Pain Management in an Urban Hospital of Vietnam: Implications for Patient Empowerment.

Active participation in pain management is vital to improve postoperative pain outcomes. However, this issue has not been fully examined in Vietnam. This study aimed to examine the active participation of patients in pain management after surgery, as well as explore its effect on acute postoperative pain.A hospital-based survey on 245 patients after surgery was conducted. Information about demographic and clinical characteristics, pain intensity and active participation in pain management was collected. Multivariate regression models were utilized to determine the associations.53.9% of patients reported that they were informed about the postoperative pain relief method before surgery. One-third (33.5%) of patients selected preferred pain relief methods; 46.1% reported that they asked physicians when feeling pain immediately after surgery; 49.8% asked physicians when pain was not relieved after taking medications, and 52.2% asked physicians for their current pain in the time of interview. Age and occupation were found to be positively associated with active participation score. Patients being informed about the postoperative pain relief method before surgery had 0.87 points higher than those not receiving explanation (Coef. = 0.87; 95%CI = 0.49-1.26). Patients with high active participation scores were more likely to have pain improvement (OR = 3.41, 95%CI = 2.37-4.92).This study highlights a low level of active participation in postoperative pain management among Vietnamese patients. Routinely providing information about pain control before surgery, and encouraging patients to actively participate in pain management are essential to improve postoperative pain outcomes.

Trends in out-of-pocket expenditure on facility-based delivery and financial protection of health insurance: findings from Vietnam's Household Living Standard Survey 2006-2018.

Much of the existing empirical literature on the association between health insurance and out-of-pocket (OOP) expenditures on facility-based delivery in low- and middle-income countries is cross sectional in nature. Comparatively little is known about the dynamic shifts in OOP expenditures and the health insurance nexus. Using seven biennial waves of Vietnam's Household Living Standard Survey covering the period 2006-2018 and a generalized linear model this study examines trends in OOP expenditures on facility-based delivery and financial protection afforded by Vietnam's social health insurance system. Over the period under consideration, the pattern of health facility utilization among the insured shifted steadily from commune health centers towards higher-level government hospitals. Real OOP for delivery was 52.7% higher in 2018 than in 2006-2008 and insurance reduced OOP expenditures by 28.5%. Compared to district hospitals, giving birth at higher-level government hospitals increased OOP expenditures by 72.3% while giving birth at commune health centers reduced OOP expenditures by 55.7%. Additional analysis involving interactions between insurance status, types of public health facility and year dummies suggested a drop in financial protection of insurance, from 48% to 26.9% among women delivering at district hospitals and from 31.2 to 18.7% among those delivering at higher-level government hospitals. The modest financial protection of health insurance and its declining trend calls for policy measures that would strengthen the quality of maternal care at primary care institutions, strengthen financial protection and curb the provision of two-tiered clinical services and charges.

Host Genetic Risk Factors Associated with COVID-19 Susceptibility and Severity in Vietnamese.

Since the emergence and rapid transmission of SARS-CoV-2, numerous scientific reports have searched for the association of host genetic variants with COVID-19, but the data are mostly acquired from Europe. In the current work, we explored the link between host genes (SARS-CoV-2 entry and immune system related to COVID-19 sensitivity/severity) and ABO blood types with COVID-19 from whole-exome data of 200 COVID-19 patients and 100 controls in Vietnam. The O blood type was found to be a protective factor that weakens the worst outcomes of infected individuals. For SARS-CoV-2 susceptibility, rs2229207 (TC genotype, allele C) and rs17860118 (allele T) of IFNAR2 increased the risk of infection, but rs139940581 (CT genotype, allele T) of SLC6A20 reduced virus sensitivity. For COVID-19 progress, the frequencies of rs4622692 (TG genotype) and rs1048610 (TC genotype) of ADAM17 were significantly higher in the moderate group than in the severe/fatal group. The variant rs12329760 (AA genotype) of TMPRSS2 was significantly associated with asymptomatic/mild symptoms. Additionally, rs2304255 (CT genotype, allele T) of TYK2 and rs2277735 (AG genotype) of DPP9 were associated with severe/fatal outcomes. Studies on different populations will give better insights into the pathogenesis, which is ethnic-dependent, and thus decipher the genetic factor's contribution to mechanisms that predispose people to being more vulnerable to COVID-19.

Genetic analyses of Vietnamese patients with oculocutaneous albinism.

BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disease with hypopigmentation in skin, hair, and eyes, causing by the complete absence or reduction of melanin in melanocytes. Many types of OCA were observed based on the mutation in different causing genes relating to albinism. OCA can occur in non-syndromic and syndromic forms, where syndromic OCA coexists with additional systemic consequences beyond hypopigmentation and visual-associated symptoms. METHODS: We performed whole exome sequencing in seven affected individuals (P1-P7) for mutation identification, and then, Sanger sequencing was used for verifications. RESULTS: Among them, five patients (P1-P5) have mutations on TYR gene including c.346C > T, c.929insC, c.115 T > C, and c.559_560ins25. The mutation on OCA2 and HPS1 genes was found in patient 6 (P6, OCA2 c.2323G > A) and patient 7 (P7, HPS1 c.972delC), respectively. Confirmation in parents (except the family of the elderly patient, P5) showed that the mother and the father in each family carried one of the variants that were detected in patients. Additionally, the effective genetic counseling was applied in the third pregnancy of a family with two OCA children (P1 and P2). CONCLUSION: To our best knowledge, this is the first case with a novel homozygous missense mutation (c.115 T > C, p.W39R) in the TYR gene. This study provides a broader spectrum of mutations linked to the oculocutaneous albinism, an additional scientific basis for diagnosis, and appropriate genetic counseling for risk couples.

The willingness to perform first aid among high school students and associated factors in Hue, Vietnam.

BACKGROUND: Adolescents who are willing to perform first aid can help prevent injuries and ultimately death among themselves and others involved in accidents or injuries. This study aims to estimate the prevalence of students' willingness to perform first aid procedures and additionally examine associated factors among high school students in Hue, Vietnam. METHODS: A cross-sectional study utilizing multi-stage stratified random sampling was conducted between April to July 2020 by investigating 798 high school students in Hue, Vietnam. Participants were invited to complete a self-reported questionnaire pertaining to individual demographic characteristics, personal perception of self-efficacy, and willingness to perform first aid. To better interpret these findings, both multivariable linear and Poisson regression models were fitted to evaluate the association between individual student characteristics and the willingness to perform first aid. RESULTS: The prevalence of having willingness to perform first aid (defined as ≥4 points out of 5 to all three questions) was 49.9% (95%CI:28.6-71.2%). The major reported barriers in performing first aid were fear of making mistakes and hurting victims (34.4%, 95%CI:31.9-37.0%), no prior first aid training (29.8%, 95%CI:25.9-33.9%), and forgetting first aid steps (23.0%, 95%CI:15.8-32.2%). By employing the multivariable linear regression model, it was identified that students with high (ß = 0.614, 95%CI:0.009-1.219) or very high (ß = 1.64, 95%CI:0.857-2.422) levels of self-efficacy appeared to be more willing to perform first aid. Similarly, in the Poisson regression models, compared to neutral students, students who reported high (PR = 1.214, 95%CI:1.048-1.407) or very high (PR = 1.871, 95%CI:1.049-3.337) levels of self-efficacy were more willing to perform first aid. CONCLUSIONS: The level of willingness to perform first aid among high school students in this study population was found to be moderate. Therefore, integrating activities to promote self-efficacy in first aid training could be considered a progressive step towards improving a student's willingness to provide such life-saving procedures.