Search Results (86)

Background and Objectives: Malnutrition is one of the most common complications in patients undergoing hemodialysis (HD) and is closely linked to increased morbidity and mortality. This study aimed to investigate the nutritional status of HD patients and the clinical relevance of bioelectrical impedance analysis (BIA) parameters such as the percent body fat (PBF), skeletal muscle mass index (SMI), extracellular water-to-total body water ratio (ECW/TBW), and phase angle (PhA) in assessing malnutrition in Vietnamese HD patients. Materials and Methods: This cross-sectional study was conducted among 184 patients undergoing hemodialysis in Hanoi, Vietnam. The BIA parameters were measured by the InBody S10 body composition analyzer, while malnutrition was assessed by the geriatric nutritional risk index (GNRI), with a GNRI <92 classified as a high risk of malnutrition. The independent BIA variables for predicting malnutrition and its cut-off values were explored using logistic regression models and a receiver operating characteristic (ROC) curve analysis, respectively. Results: Among the study population, 42.9% (79/184) of patients were identified as being at a high risk of malnutrition. The multivariate logistic regression analysis revealed that a higher ECW/TBW was independently associated with an increased risk of malnutrition, while the PBF, SMI, and PhA expressed significant and inverse associations with the malnutrition risk after adjusting for multiple confounders. The cut-off values for predicting the high risk of malnutrition in overall HD patients were determined to be 20.45%, 7.75 kg/m², 5.45°, and 38.03% for the PBF, the SMI, the PhA, and the ECW/TBW ratio, respectively. Conclusions: BIA parameters, including the PBF, SMI, PhA, and ECW/TBW ratio, could serve as indicators of malnutrition in general Vietnamese patients with HD. Full article

Background: Community-acquired pneumonia (CAP) is the leading cause of death in infants aged 1–59 months. Concurrent with this, there is a need to prescribe antibiotics wisely in Vietnam due to concerns with rising antimicrobial resistance (AMR). Consequently, an urgent need has arisen to treat patients according to agreed guidelines. The aim of this study was to investigate the current management of infants under five years old with CAP in Vietnam as well as identify possible obstacles to adhering to national guidelines. Methods: A mixed-method approach was used incorporating both quantitative and qualitative data analysis in a leading hospital in Vietnam, which influences others. Data from 108 pediatric patient records were collected and analyzed. Subsequently, in-depth interviews were conducted with pediatric doctors treating these patients to ascertain possible reasons for non-adherence to guidelines. Results: The mean age of children diagnosed with CAP was 27.94 ± 12.99 months, with 82.4% having non-severe CAP, and 41.7% of children had previously used antibiotics before hospitalization. The median length of hospital stay was 7 days. All children were prescribed antibiotics, 91.4% of children received these initially intravenously, with third-generation cephalosporins being the most (91.7%) commonly prescribed. Cefoperazone/sulbactam was the most frequently prescribed (48.2%) antibiotic. However, on 96.1% of occasions cefoperazone/sulbactam was given at higher doses than the label instructions. Overall, 73.3% of antibiotics prescribed were “Watch” antibiotics. In addition, the proportion of initial antibiotic regimens that were consistent with current national guidelines was only 4.63%. Conclusions: There were considerable concerns with low adherence rates to current guidelines alongside high rates of prescribing of injectable third-generation cephalosporins due to various internal and external barriers. Antimicrobial stewardship programs with updated national guidelines are urgently needed in Vietnamese hospitals to treat CAP in children as part of ongoing measures to reduce increasing AMR rates. Such activities should also help improve antibiotic use in the community following improved education of trainee ambulatory care physicians regarding appropriate management of children with CAP. Full article

Objectives: This study aims to describe the clinical features and genetic findings of nine Vietnamese patients with autosomal recessive bestrophinopathy. Methods: This retrospective and cross-sectional study included individuals diagnosed with autosomal recessive bestrophinopathy at the Eye Clinic, Vietnam National Geriatric Hospital between May 2024 and April 2025. The patients underwent a visual acuity assessment, retinal multimodal imaging, and molecular testing through BEST1 gene sequencing. Results: Nine patients from seven unrelated families were included. The mean age was 38.6 years (range: 14.1–79.6). Visual acuity ranged from 20/20 to 20/125. All patients showed vitelliform lesions, subretinal deposits, and both intraretinal and subretinal fluid. Other main features included diffuse macular hyperfluorescence and hyperopia. Less common clinical features encompassed glaucoma, retinoschisis, outer retinal thinning, serous retinal detachment, retinal thickening, and thinning of the retinal pigment epithelium. Compound heterozygous or homozygous variants were detected in all patients. Among the five identified BEST1 variants, the most frequent were p.(A195V) and p.(R200*). One novel variant, p.(K289*), was detected. Conclusions: The main clinical retinal features of nine Vietnamese patients with autosomal recessive bestrophinopathy included vitelliform lesions, subretinal deposits, retinal fluid, and diffuse macular hyperfluorescence. The most common variants were p.(A195V) and p.(R200*). Additionally, the identification of various compound heterozygotes and a novel BEST1 variant expands the mutation spectrum of the disease. Full article

Spondylocostal dysostosis (SCDO) is a group of rare genetic disorders characterized by segmental vertebral defects and rib deformities due to congenital misalignment, fusion, or reduction in the number of ribs. The causes of the disease have been found in seven genes, including DLL3 (SCDO1, OMIM 602768), MESP2 (SCDO2, OMIM 608681), LFNG (SCDO3, OMIM 609813), HES7 (SCDO4, OMIM 608059), TBX6 (SCDO5, OMIM 602427), RIPPLY2 (SCDO6, OMIM 616566), and DLL1 (SCDO7). Among these, SCDO4, characterized by a short trunk, short neck, and mild nonprogressive scoliosis, is a rare form of reported cases. SCDO4 is identified as caused by homozygous or compound heterozygous variants in the HES7 gene (NM_001165967.2; NP_001159439.1). This study reports a novel homozygous HES7 splice variant (c.43-9T>A) detected in an SCDO4 patient by whole-exome sequencing and confirmed by Sanger sequencing. This variant was evaluated as an acceptor loss variant in intron 1 in the HES7 transcript by in silico analysis and was inherited from the patient’s parent. This study also reviews previous reports to provide a comprehensive overview of SCDO and help us to understand the pathogenesis to develop future treatment strategies. Full article

Background/Objectives: Children with congenital adrenal hyperplasia (CAH) face significant risks of impaired growth and metabolic disturbances despite standard glucocorticoid therapy. This cross-sectional study aimed to evaluate growth outcomes, nutritional status, and associated factors among children with CAH treated in a Vietnamese tertiary pediatric center. Methods: We assessed 201 children aged 1.1–16.5 years in a tertiary pediatric center in Vietnam for anthropometric parameters, biochemical markers (calcium, phosphate, 25-hydroxyvitamin D), and clinical features. Growth status was evaluated using WHO standards, and bone age was assessed radiographically. Statistical analyses explored associations between growth outcomes and clinical, biochemical, and treatment-related factors. Results: Stunting was present in 16.4% of children, while 53.3% were overweight or obese. Bone age advancement occurred in 51.7% of cases. Vitamin D insufficiency or deficiency was detected in 85.6% of patients, and hypocalcemia was present in 85.1%. Overweight/obesity, vitamin D deficiency, and bone age advancement were associated with older age, prolonged corticosteroid therapy, higher androgen levels, and clinical features of treatment imbalance (e.g., Cushingoid appearance, hyperpigmentation). Female sex was significantly associated with higher rates of stunting. Conclusions: Growth impairment, nutritional deficiencies, and skeletal maturation disturbances are prevalent among children with CAH in Vietnam. Early identification of risk factors and the implementation of tailored management strategies that address both endocrine and nutritional health are crucial for optimizing long-term outcomes. Full article

Objective: This study aimed to assess the prevalence of depression and anxiety among patients with acute leukemia in Vietnam and to identify associated sociodemographic and clinical factors. Methods: A cross-sectional study was conducted at the Hematology and Blood Transfusion Center of Bach Mai Hospital, a national tertiary care facility in Hanoi, Vietnam. A total of 82 patients diagnosed with acute leukemia were recruited using a convenience sampling method. Data on sociodemographic characteristics (e.g., age, gender, residence, education, occupation, marital status, and income) and clinical information (e.g., leukemia type, treatment stage, comorbidities, substance use) were collected. Depression and anxiety were assessed using the Beck Depression Inventory (BDI) and Zung’s Self-Rating Anxiety Scale (SAS). Multivariate logistic and Tobit regression analyses were applied to explore associated factors. Results: Participants had a mean age of 43.4 years (SD = 14.0), with 53.7% male and 69.5% residing in rural areas. Most were married (82.9%) and had completed high school (45.1%). Farmers constituted the largest occupational group (29.3%). The mean BDI score was 13.7 (SD = 9.8), and the mean SAS score was 39.2 (SD = 6.3). Overall, 50.0% of patients met criteria for depression, while 26.8% exhibited clinically significant anxiety symptoms. Among those with anxiety, 59.1% had mild symptoms, 22.7% moderate, and 18.2% severe or very severe. Patients with education above high school (OR = 7.32; 95% CI: 1.01–53.23), a spouse (OR = 25.10; 95% CI: 2.14–294.55), or comorbidities (OR = 8.05; 95% CI: 1.63–39.68) had significantly higher odds of depression. A higher income (>10 million VND/month) was associated with lower depression scores (Coef. = −6.05; 95% CI: −11.65 to −0.46). Regarding anxiety, the female gender was associated with higher odds (OR = 3.80; 95% CI: 1.21–11.93) and SAS scores (Coef. = 4.07; 95% CI: 1.64–6.51), while higher income predicted lower anxiety severity (Coef. = −3.74; 95% CI: −6.57 to −0.91). Conclusions: This Vietnamese hospital-based study highlights a high prevalence of depression and anxiety among patients with acute leukemia. Routine mental health screening and culturally appropriate psychosocial interventions are strongly recommended to improve patient well being. Full article

Background: Neisseria meningitidis (N. meningitidis) is a leading cause of acute meningitis and is classified into 13 serogroups, six of which are predominantly associated with invasive meningococcal disease. This study aimed to investigate the genotype, subgenotype, and antigenic profiles of N. meningitidis serogroup B strains isolated in Vietnam. Methods: Genotyping was performed on 106 N. meningitidis strains isolated from clinical samples from Vietnamese patients and nasopharyngeal swabs of healthy adolescents between 2019 and 2024. The genetic profiles, including the porA, porB, fetA, fHbp, abcZ, adk, aroE, fumC, gdh, pdhC, and pgm genes, were analyzed using Sanger sequencing and bioinformatic methods. Results: We found that 84.9% of the strains carried VR3 families 36 or 35-1, with VR1, VR2, and VR3 families 22-25, 14, and 36 being the most prevalent. Among the 106 serogroup B isolates, 20 variants of the porB allele 3 were identified, with porB 3-1212 being the most frequent (30.2%). Dominant PorB variable loops included L1.6, L4.5, L5.7, L6.6, and L7.13. fHbp variant group 2 was predominant (104/106 strains), and 12 FetA allele variants were identified, with F1-7 being the most common (47.2%). Three clonal complexes were identified, and clonal complex ST-32 was the most predominant. Fifty-five strains (51.9%) belonged to sequence types that have not yet been assigned to any clonal complexes, and 15 strains (14.1%) with allelic profiles were not assigned to STs. The 3-253 and 3-1212 alleles of porB, the F1-7 variant of FetA, the ST-44 and ST-1576 sequence types, and the ST-41/44 complex were observed more frequently in patients compared to asymptomatic carriers, suggesting their association with more virulence. Conclusions: This study showed a high genetic and antigenic diversity of N. meningitidis serogroup B isolates in Vietnam, with VR3 family 36 most common and porB 3-1212 as the predominant allele. fHbp variant group 2 and FetA allele F1-7 were most frequent. ST-32 was the dominant clonal complex, though many strains remained unassigned, highlighting the need for ongoing molecular surveillance. Full article

Background and Objectives: Patients of Asian descent are often grouped together despite their diverse ethnicities and genetic backgrounds. Cancer outcomes result from a complex interplay of genetics, environment, and socioeconomic factors. This study aims to describe lung cancer survival outcome variations in Asian ethnic subgroups, hypothesizing that significant outcome differences exist between subgroups. Materials and Methods: A retrospective analysis of the 2020 National Cancer Database identified patients with stage IV non-small-cell lung cancer (NSCLC). Asian patients were subcategorized into nine groups: Chinese, Japanese, Korean, Asian Indian/Pakistani, Vietnamese, Pacific Islander, Filipino, Laotian/Hmong/Kampuchean/Thai, and Other Asian/Asian not otherwise specified (NOS). The primary outcome was overall survival, and the secondary outcome was utilization of palliative care. Kaplan–Meier analysis and multivariate Cox and logistic modeling were used to assess outcomes of interest. Results: A total of 23,747 Asian patients with stage IV NSCLC were identified. Demographic characteristics of the subgroups varied by age, sex, Charlson–Deyo Comorbidity Index, and utilization of palliative care. Relative to Chinese Asians, multivariate Cox analysis showed worse survival outcomes among patients categorized as Japanese, Korean, Pacific Islanders, Filipino, and Laotian/Hmong/Kampuchean/Thai. The rate of palliative care utilization also varied among Asian subgroups. Compared to Chinese patients, palliative care was more likely to be utilized by patients categorized as Japanese and Pacific Islander. Conclusions: Amongst Asian subgroups, variations in survival outcomes and palliative care utilization in stage IV NSCLC patients were observed. Surgeons should acknowledge these disparities and consider disaggregating Asian races in prognosis analysis to enhance understanding of race’s impact on outcomes. Recognizing these differences is crucial for guiding personalized treatment strategies, optimizing resource allocation, and informing health policy to ensure equitable cancer care for all Asian populations. Full article

Background: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by mutations in the CYP27B1 gene, leading to a deficiency in active vitamin D (1,25-dihydroxyvitamin D). This study examines the genotypic and phenotypic characteristics of VDDR1A in Vietnamese children. Patients and Methods: A retrospective analysis was conducted on 19 Vietnamese children diagnosed with VDDR1A. Clinical, radiological, biochemical, and molecular data were collected. Rickets Severity Scores (RSSs), biochemical parameters, and height standard deviation scores (HtSDSs) were used to assess the severity of the condition. Results: The study included 19 children from 17 families (ten males and nine females). The median age of rickets diagnosis was 19.2 months, while with VDDR1A, the median time of diagnosis was 7.5 months. Common symptoms among the children included thickened wrists and ankles (19/19), genu varum or genu valgum (18/19), failure to thrive (18/19), rachitic rosary (12/19), and delayed walking (11/19). The radiographic features showed that all children had cupping, splaying, and fraying, twelve children had rachitic rosary, and six exhibited pseudofractures. The biochemical findings showed severe hypocalcemia, normal or mildly low serum phosphate, elevated alkaline phosphatase and parathyroid hormone levels, and normal serum 25-hydroxyvitamin D levels. Genetic analysis identified biallelic CYP27B1 variants, including one known pathogenic frameshift mutation, c.1319_1325dup p.(Phe443Profs*24), one novel likely pathogenic missense variant, c.616C>T p.(Arg206Cys), and one novel pathogenic frameshift mutation, c.96_97del p.(Ala33Thrfs*299). The c.1319_1325dup p.(Phe443Profs*24) variant was the most common, present in 18 out of 19 children. Conclusions: The children with VDDR1A in this study presented with growth failure and skeletal deformities. Key findings included severe hypocalcemia, elevated alkaline phosphatase and parathyroid hormone levels, normal or elevated 25(OH)D, and high RSSs. Predominant frameshift mutations in CYP27B1, especially c.1319_1325dup, highlighted the importance of early genetic diagnosis for optimal management. Additionally, two novel CYP27B1 variants were identified, expanding the known mutation spectrum of VDDR1A. Full article

Hypopituitarism is a condition characterized by the deficiency of several hormones produced by the pituitary gland. Genetic factors play an important role. Variants in the POU1F1 gene are associated with combined pituitary hormone deficiency 1 (CPHD1), which manifests as deficiencies in growth hormone (GH), thyroid-stimulating hormone (TSH), and prolactin (PRL). This study aimed to analyze the phenotype, genotype, treatment, and outcomes of Vietnamese patients with deficiency. Six patients from five unrelated families, initially diagnosed with hypopituitarism, were enrolled in this study. Data on physical characteristics, biochemical tests, treatment, outcomes, and follow-up were collected. Exome sequencing and Sanger sequencing were conducted to identify disease-causing variants in five probands and their families. All six patients exhibited anterior pituitary hypoplasia on brain magnetic resonance imaging and presented with TSH, GH, and PRL deficiencies. Exome sequencing identified three variants in the POU1F1 gene: c.428G>A p.(Arg143Gln), c.557T>G p.(Leu186Arg), and c.811C>T p.(Arg271Trp). The c.811C>T p.(Arg271Trp) variant was found in three patients, while c.557T>G p.(Leu186Arg) is a novel variant. Based on the ACMG classification, these variants were categorized as likely pathogenic or pathogenic variants. All patients were definitively diagnosed with CPHD1 caused by POU1F1 variants. All patients received levothyroxine and recombinant human growth hormone (rhGH) replacement therapy, leading to considerable growth. During the first year of treatment, all patients showed excellent growth response, with height increases ranging from 11 to 24 cm. After three years of treatment, two patients achieved normal height. One of the six patients developed scoliosis during treatment, which resolved after a one-year pause in rhGH therapy. Upon resuming treatment, no recurrence of scoliosis was observed. Our findings reveal the importance of early hormone testing and genetic analysis in improving the care and outcomes for patients with combined pituitary hormone deficiency. Full article

Background/Objectives: The incidence of Ceftazidime/Avibactam (CZA)-resistant Klebsiella pneumoniae isolate co-producing Klebsiella pneumoniae carbapenemase 2 (KPC-2) and Vietnamese extended-spectrum β-lactamase 25 (VEB-25) has been on the rise in Greece over the past five years. This study investigates the isolation of ST323 K. pneumoniae isolates co-resistant to CZA and cefiderocol (FDC) from colonized and infected patients in a single hospital in Athens. Methods: CZA-resistant K. pneumoniae strains were isolated from 5 ICU patients from 27 December 2023 to 22 January 2024. Antimicrobial susceptibility was tested against a panel of agents. Whole-genome sequencing of the isolates was carried out to identify the acquired resistance genes and mutations that were associated with CZA and FDC resistance. Results: The K. pneumoniae isolates belonged to ST323 and harbored bla_KPC-2 and bla_VEB-25. The isolates had a minimum inhibitory concentration (MIC) of >256 mg/L for CZA and 32 mg/L for FDC, due to the disrupted catecholate siderophore receptor Fiu. bla_VEB-25 was located on an IncC non-conjugative plasmid and on a ~14 kb multidrug resistance (MDR) region comprising 15 further acquired resistance genes. Transformation studies showed that the bla_VEB-25-carrying plasmid provided resistance to most of the β-lactams tested, including CZA. The isolates remained susceptible to carbapenems, imipenem/relebactam, and meropenem/vaborbactam. The plasmid harbored the citrate-dependent iron (III) uptake system (fecIRABCDE), which increased the MIC of FDC from ≤0.08 mg/L to 2 mg/L. Conclusions: The bla_VEB-25 gene was associated with IncC plasmids which are important contributors to the spread of key antibiotic resistance genes. Strict infection control measures must be elaborated upon to prevent the spread of extensively drug-resistant organisms such as those described here. Full article

Background/Objectives: Venous thromboembolism (VTE) is related to maternal mortality, especially after the coronavirus disease (COVID-19) pandemic. The Royal College of Obstetricians and Gynecologists (RCOG) guidelines’ risk assessment score has been established to reduce thrombotic complications during pregnancy. Recently, it was found that the soluble fibrin monomer complex (SFMC) could be an alternative to D-dimer (DD), which has been used to assess the risk of VTE. This study aims to reveal the difference between FM and DD concentrations in low- and high-VTE-risk groups according to the RCOG’s guidelines. Method: This observational study was conducted at the Department of High-Risk Pregnancy, Tu Du Hospital, Vietnam between August 2023 and April 2024. This study enrolled 100 pregnant women beyond 28 weeks of gestation at low risk (≤2 points) and high risk (≥3 points) of VTE assessment following the RCOG guidelines’ score. Blood samples were collected for the SFMC and DD tests before delivery. Statistical tests were used to compare the difference in SFMC and DD concentrations between the two groups. A p-value < 0.05 is considered statistically significant. Results: We found no significant difference in DD and SFMC tests between low and high VTE risk (1.61 [1.30–2.30] vs. 1.51 [0.91–2.13]; 5.00 [1.36–9.78] vs. 3.74 [1.28–14.63], respectively; p > 0.05). The length of hospital stay in the high-risk group is longer than that of the low-risk group and involves postpartum infection. In addition, we found no significant correlation between the gestational age and SFMC or DD concentration. However, a moderate positive correlation between the two tests was found. Similarly, no significant correlation between the VTE score and SFMC or DD concentration was found in the present study. Conclusions: The soluble fibrin monomer complex and D-dimer tests are not significantly different between low-risk and high-risk groups determined through VTE evaluation before delivery according to the RCOG guidelines. The fibrin-linked tests need to be individualized and applied among pregnant women with higher scores of VTE risk based on maternal and pregnancy characteristics during antenatal care. Further studies with a larger number of participants are required to strengthen the findings. Full article

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMGCS2D) is a rare metabolic disorder that impairs the body’s ability to produce ketone bodies and regulate energy metabolism. Diagnosing HMGCS2D is challenging because patients typically remain asymptomatic unless they experience fasting or illness. Due to the absence of reliable biochemical markers, genetic testing has become the definitive method for diagnosing HMGCS2D. This study included 19 patients from 14 unrelated families diagnosed with HMGCS2D in our department between October 2018 and October 2024. The clinical presentations, biochemical findings, molecular characteristics, and management strategies were systematically summarized and analyzed. Of the 19 cases studied, 16 were symptomatic, and 3 were asymptomatic. The onset of the first acute episode occurred between 10 days and 28 months of age. Triggers for the initial crisis in the symptomatic cases included poor feeding (93.8%), vomiting (56.3%), diarrhea (25.0%), and fever (18.8%). Clinical manifestations during the first episode were lethargy/coma (81.3%), rapid breathing (68.8%), hepatomegaly (56.3%), shock (37.5%), and seizures (18.8%). The biochemical abnormalities observed included elevated plasma transaminases (100%), metabolic acidosis (75%), hypoglycemia (56.3%), and elevated plasma ammonia levels (31.3%). Additionally, low free carnitine levels were found in seven cases, elevated C2 levels were found in one case, dicarboxylic aciduria was found in two cases, and ketonuria was found in two cases. Abnormal brain MRI findings were detected in three patients. Genetic analysis revealed seven HMGCS2 gene variants across the 19 cases. Notably, a novel variant, c.407A>T (p.D136V), was identified and has not been reported in any existing databases. Two common variants, c.559+1G>A and c.1090T>A (p.F364I), were present in 11 out of 19 cases (57.9%) and 10 out of 19 cases (55.5%), respectively. The implementation of a high glucose infusion and proactive management strategies—such as preventing prolonged fasting and providing enteral carbohydrate/glucose infusion during illness—effectively reduced the rate of acute relapses following accurate diagnosis. Currently, all 19 patients are alive, with ages ranging from 5 months to 14 years, and exhibit normal physical development. To the best of our knowledge, this study represents the first reported cases of HMGCS2D in Vietnamese patients. Our findings contribute to a broader understanding of the clinical phenotype and expand the known spectrum of HMGCS2 gene variants, enhancing current knowledge of this rare metabolic disorder. Full article

Background: Sitosterolemia is a rare autosomal recessive disorder characterized by diverse clinical manifestations ranging from asymptomatic cases to the development of xanthomas, hypercholesterolemia, premature atherosclerosis, or even sudden death during childhood. It results from homozygous or compound heterozygous pathogenic variants in the ABCG5 or ABCG8 genes. Prompt detection and intervention are essential to managing this condition and preventing severe outcomes. Methods: This study aims to retrospectively analyze the phenotype, genotype, treatment, and outcomes of 14 children—seven boys and seven girls—all of Vietnamese origin, diagnosed with sitosterolemia at the Vietnam National Children’s Hospital between March 2015 and July 2024. Results: The median ages at disease onset and diagnosis were 5.7 years (range: 1.5–17.9) and 7.2 years (range: 1.7–17.9), respectively. Xanthomas were observed in 85.7% of patients (12/14), arthralgia in 14.3% (2/14), and anemia in 7.1% (1/14), with no cases of thrombocytopenia. At diagnosis, all patients exhibited elevated total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C), with considerably higher levels in patients with xanthomas compared to those without. Mutations in the ABCG5 gene were identified in 71.4% (10/14) of the patients, while 28.6% (4/14) had mutations in the ABCG8 gene. Fourteen variants were detected, nine in ABCG5 and five in ABCG8, with five variants reported for the first time in sitosterolemia patients. Initial management for all patients involved dietary modifications. After three months, 10 patients with persistently elevated TC and LDL-C received ezetimibe or cholestyramine treatment. Among the eight patients who continued treatment for over three months, the median TC and LDL-C concentrations decreased by 54.9% and 67.3%, respectively. Conclusions: Among Vietnamese patients with sitosterolemia, variants in the ABCG5 gene were more prevalent than those in the ABCG8 gene. Patients showed a positive response to ezetimibe or cholestyramine treatment. Genetic testing is essential for establishing a diagnosis of sitosterolemia and guiding accurate management strategies. Full article

Background/Objectives: Functional dyspepsia is associated with abdominal pain and nausea, which leads to reduced quality of life, loss of productivity, and economic loss for patients. Itopride hydrochloride (itopride) stimulates the gastrointestinal smooth muscles, thereby promoting gastric emptying. It has been shown to significantly improve symptoms in patients with functional dyspepsia without severe side effects. Itopride has been available in Vietnam for many years; however, the cost-effectiveness of the drug has not been established. The aim of this study is to estimate the cost-effectiveness of itopride for the treatment of functional dyspepsia in Vietnam. Methods: A 3-stage Markov model with the following health states—controlled functional dyspepsia, uncontrolled functional dyspepsia, and dead—was developed. Functional dyspepsia was used to assess itopride over 10 years using 8-week cycles. A broader Vietnamese societal perspective was assumed for the analysis. Input was retrieved from the literature and through local clinical input from physicians in Vietnam. Output was reported as an incremental cost-effectiveness ratio (ICER) per quality-adjusted life years (QALY). A GDP/capita threshold (very cost-effective: 1 × GDP = Vietnamese Dong (VND) 64.1 M, cost-effective: 3 × GDP = VND 192.2 M) was used as recommended by the WHO in Vietnam. One-way and probabilistic sensitivity analyses were performed. Results: Itopride use resulted in an additional 0.28 QALYs at an extra cost of VND 11.2 M. This resulted in an ICER of VND 39.7 M per QALY, which is lower than the threshold of VND 192.2 M. One-way sensitivity analyses showed that the ICER was sensitive to varying the efficacy VND 31.8 M to VND 88.3 M), cost of itopride (ICER: VND 43.1 M to VND 56.5 M), and the health utility values (ICER: VND 45.2 M to VND 55.3 M). More than 80% of the simulations in the probabilistic sensitivity analysis were cost-effective at the 1 × GDP (VND 64.1 M) threshold, and 91.3% were cost-effective at the 3 × GDP (VND 192.2 M) threshold. Conclusion: This study shows that itopride hydrochloride is a very cost-effective treatment for functional dyspepsia in Vietnam, with the ICER (VND 39.7 M/QALY) being even lower than the 1 × GDP (VND 64.1 M) threshold. Full article