Lysosomal diseases (LDs) are a group of rare inherited disorders belonging to inborn metabolism errors. LDs are characterized by the excessive storage of undegraded substrates, most often due to the enzymatic deficiency resulting from disease-causing gene variants. LDs lead to dysregulated cellular pathways and imbalanced molecular homeostasis and can affect multiple organs and tissues. Despite being rare, LDs account for a significant incidence when considered collectively. Due to complex molecular and genetic fingerprints, considerable challenges in LD management must be overcome. Diagnosis can be significantly delayed due to the broad and nonspecific clinical manifestations and the lack of specific biomarkers. Available treatments fail to fully stop the disease progression and can alter the disease's typical phenotypes with novel manifestations. Therefore, a paradigm shift is crucial to better understand LDs and provide actionable insights. Herein, we comprehensively review the literature to demonstrate that multi-omics approaches are promising for pathophysiology elucidation, biomarker discovery, and precision therapy in LDs. We recommend adopting longitudinal study designs integrated with a multi-omics-empowered framework to facilitate mechanistic delineation, biomarker discovery, and treatment development. Relevant approaches exploring the association between LDs and common neurodegenerative disorders are also discussed, paving a potential path for improved therapeutic development and ultimately improving the patient's quality of life.

The RET gene point mutation is the main molecular alteration involved in medullary thyroid carcinoma (MTC) tumorigenesis. Previous studies in Vietnam mainly consisted of case reports, with limited data on larger sample sizes. In this study, we investigated RET gene mutations in exons 10, 11, and 16 and analyzed clinicopathological features of a series of Vietnamese MTC patients. Methods: We collected 33 tissue samples from patients with MTC and analyzed RET mutations using the Sanger sequencing method. The relationship between hotspot RET mutations (exons 10, 11, 16) and clinicopathological features were investigated. Results: Among the 33 analyzed cases, 17 tumors (52%) harbored RET mutations in exon 10, 11, or 16. A total of 10 distinct genetic alterations were identified, including eight missense mutations and two short indels. Of these, seven were classified as pathogenic mutations based on previous publications, with p.M918T being the most frequent (4 cases), followed by p.C634R (3 cases) and p.C618R (3 cases). Mutations were significantly associated with specific histological patterns, such as the nested/insular pattern (p=.026), giant cells (p=.007), nuclear pleomorphism (p=.018), stippled chromatin (p=.044), and amyloid deposits (p=.024). No mutations were found in germline analyses, suggesting these were somatic alterations. Conclusions: Our results provided the first comprehensive analysis of RET mutations in Vietnamese MTC patients. The most frequent mutation was p.M918T, followed by p.C634R and p.C618R. Mutations in these three exons were linked to specific histopathological features. Information on mutational profiles of patients with MTC will further aid in the development of targeted therapeutics to ensure effective disease management.

The RET gene point mutation is the main molecular alteration involved in medullary thyroid carcinoma (MTC) tumorigenesis. Previous studies in Vietnam mainly consisted of case reports, with limited data on larger sample sizes. In this study, we investigated RET gene mutations in exons 10, 11, and 16 and analyzed clinicopathological features of a series of Vietnamese MTC patients. Methods: We collected 33 tissue samples from patients with MTC and analyzed RET mutations using the Sanger sequencing method. The relationship between hotspot RET mutations (exons 10, 11, 16) and clinicopathological features were investigated. Results: Among the 33 analyzed cases, 17 tumors (52%) harbored RET mutations in exon 10, 11, or 16. A total of 10 distinct genetic alterations were identified, including eight missense mutations and two short indels. Of these, seven were classified as pathogenic mutations based on previous publications, with p.M918T being the most frequent (4 cases), followed by p.C634R (3 cases) and p.C618R (3 cases). Mutations were significantly associated with specific histological patterns, such as the nested/insular pattern (p=.026), giant cells (p=.007), nuclear pleomorphism (p=.018), stippled chromatin (p=.044), and amyloid deposits (p=.024). No mutations were found in germline analyses, suggesting these were somatic alterations. Conclusions: Our results provided the first comprehensive analysis of RET mutations in Vietnamese MTC patients. The most frequent mutation was p.M918T, followed by p.C634R and p.C618R. Mutations in these three exons were linked to specific histopathological features. Information on mutational profiles of patients with MTC will further aid in the development of targeted therapeutics to ensure effective disease management.

The RET gene point mutation is the main molecular alteration involved in medullary thyroid carcinoma (MTC) tumorigenesis. Previous studies in Vietnam mainly consisted of case reports, with limited data on larger sample sizes. In this study, we investigated RET gene mutations in exons 10, 11, and 16 and analyzed clinicopathological features of a series of Vietnamese MTC patients. Methods: We collected 33 tissue samples from patients with MTC and analyzed RET mutations using the Sanger sequencing method. The relationship between hotspot RET mutations (exons 10, 11, 16) and clinicopathological features were investigated. Results: Among the 33 analyzed cases, 17 tumors (52%) harbored RET mutations in exon 10, 11, or 16. A total of 10 distinct genetic alterations were identified, including eight missense mutations and two short indels. Of these, seven were classified as pathogenic mutations based on previous publications, with p.M918T being the most frequent (4 cases), followed by p.C634R (3 cases) and p.C618R (3 cases). Mutations were significantly associated with specific histological patterns, such as the nested/insular pattern (p=.026), giant cells (p=.007), nuclear pleomorphism (p=.018), stippled chromatin (p=.044), and amyloid deposits (p=.024). No mutations were found in germline analyses, suggesting these were somatic alterations. Conclusions: Our results provided the first comprehensive analysis of RET mutations in Vietnamese MTC patients. The most frequent mutation was p.M918T, followed by p.C634R and p.C618R. Mutations in these three exons were linked to specific histopathological features. Information on mutational profiles of patients with MTC will further aid in the development of targeted therapeutics to ensure effective disease management.

Background: The elderly are a population group that is particularly vulnerable to nutritional and digestive problems due to age-related physiological changes. In the hospital setting, where the elderly are treated as inpatients, gastrointestinal symptoms can become more complicated due to the impact of many factors related to the hospital environment such as changes in diet and use of multiple medications. In Vietnam, the population is aging rapidly, with the proportion of people over 60 years old increasing. This is a major challenge for the health system, especially in nutritional management and improving the quality of life of the elderly. Objectives: The study aims to describe the nutritional status, common gastrointestinal symptoms and the association between gastrointestinal symptoms disorders and nutritional status in elderly individuals receiving inpatient treatment. Methods: A cross-sectional descriptive study was conducted on 264 elderly patients at Hanoi Medical University Hospital from March 2023 to May 2024. Nutritional status was assessed using the BMI (WHO) and MNA, with ROME IV criteria employed to determine gastrointestinal symptoms, including functional dyspepsia, belching disorders, nausea, and vomiting disorders. Related factors considered were age, gender, and comorbidities. Results: The average age of the participants was 69.4±7.2 years. The rate of malnutrition or risk of malnutrition in the study subjects according to MNA was quite high, 12.5% and 70.1%, respectively. The prevalence of common digestive symptoms in elderly patients includes: 60.2% of elderly patients have symptoms of functional dyspepsia; 33.7% have symptoms of belching disorder; nausea and vomiting disorders account for 16.4%. According to MNA assessment, the proportion of elderly patients at risk of malnutrition and malnutrition with symptoms of gastrointestinal disorder was higher than the non-malnutrition group, the difference was statistically significant with p<0.05. Female participants often have digestive symptoms more often than male participants (p<0.05). Conclusion: Digestive symptoms are common in the elderly treated in a hospital. The incidence of gastrointestinal symptoms in the elderly is related to malnutrition.

Background: Patients with beta-thalassemia major are susceptible to malnutrition, yet limited evidence exists in Vietnam. This study aims to identify factors associated with underweight status among adults with beta-thalassemia major in Vietnam. Methods: This cross-sectional study included 201 adults (≥18 years) with beta-thalassemia major. Underweight was defined as BMI < 18.5 kg/m². Logistic regression was used to examine factors associated with underweight status, including age, sex, ethnicity, place of residence, educational level, marital status, and employment status. Results: Over half of the participants (54.2%) were underweight. Female (aOR = 0.30, 95% CI: 0.12–0.73, p-value=0.008) and married patients (aOR = 0.32, 95% CI: 0.13–0.79, p-value=0.013) were significantly associated with lower odds of underweight status compared to male and unmarried counterparts. Underweight patients had significantly lower fat mass, muscle mass, and bone mineral content, but higher total body water percentage compared to those with normal weight. Conclusion: Underweight status is highly prevalent among adults with beta-thalassemia major in Vietnam, particularly among males and unmarried individuals. These findings underscore the need for targeted nutritional and psychosocial support strategies to improve care and quality of life for this vulnerable population. We recommend implementing tailored nutritional interventions to improve their nutritional status.

Purpose: Simple virilizing congenital adrenal hyperplasia (SV-CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disease caused by pathogenic variants of the CYP21A2 gene. Children with SV-CAH often experience delayed diagnosis, presenting with pseudo-precocious puberty in males and genital virilization in females. Genotyping is essential for diagnosis, treatment, optimization, and phenotype prediction. This study describes the clinical and genetic characteristics of SV-CAH to guide treatment strategies. Methods: From November 2016 to March 2023, 79 children (accounting for 34.3% of 230 CAH cases in the overall children’s cohort) from 75 families were classified as SV-CAH due to 21-OHD at the Vietnam National Children's Hospital. Forty-three children underwent CYP21A2 mutation analysis using multiplex ligation-dependent probe amplification and complete gene sequencing to detect pathogenic variants. Results: Median age at diagnosis was 4.5 years (interquartile range, 1 day–22.3 years). There were 38.0% males and 62.0% females. The most common symptoms were penile enlargement in males (53.3%) and clitoromegaly (87.8%) in females; the height standard deviation (SD) at diagnosis was 1.90±1.79 SD (-2.02 to 5.43) according to the World Health Organization; and bone age advancement was 4.65±2.59 years. Genetic analysis identified 21 pathogenic variants and 22 genotypes in 43 children. The most common variant was p.I173N (47.7%); the most common genotype was p.I173N/p.I173N (16.3%). Conclusion Children with SV-CAH are often diagnosed late. To avoid that, early genetic analysis should be prioritized, especially for children diagnosed through newborn screening programs. Determining the genotype is crucial for optimizing treatment strategies, ensuring personalized management, and avoiding overtreatment.

We investigated factors associated with malnutrition in nursing home residents and estimated pooled effect sizes of those associations. Methods: We report this study according to the PRISMA checklist 2020. After registering the protocol, we conducted a systematic search using the keywords “malnutrition,” “nursing home,” and “factor” on PubMed, EMBASE, CINAHL, and Scopus and conducted a hand search of relevant sources in November 2023. We conducted the meta-analysis using R4.3.1 software. Results: We included 46 studies and entered 35 studies into the meta-analysis. Meta-analysis results showed that (1) demographic factors included being female: pooled odds ratio (pOR) 1.38 (95% confidence interval [95% CI], 1.29~1.47) and higher body mass index: pOR 0.74 (95% CI, 0.66~0.83); (2) health functional factors including dependence with activities of daily living: pOR 3.70 (95% CI, 2.97~4.60) and being immobile: pOR 2.50 (95% CI, 1.39~4.47); (3) eating and oral intake factors including: eating <50% of offered food portions: pOR 3.56 (95% CI, 2.05~6.19) and loss of appetite: pOR 3.60 (95% CI, 1.36~9.57); (4) disease-related factors including dementia: pOR 1.98 (95% CI, 1.59~2.46), depression: pOR 1.84 (95% CI, 1.18~2.85), diabetes: pOR 0.76 (95% CI, 0.58~0.99), and pressure ulcers: pOR 2.14 (95% CI, 1.54~2.97); and (5) medication-related factors such as taking polypharmacy pOR 1.75 (95% CI, 1.24~2.47) were found to have a significant association with malnutrition in nursing homes. Conclusion: These results contribute to updating knowledge about factors associated with malnutrition in nursing homes. Results supported that demographic status, health function, eating and oral intake, and disease, and medication factors significantly aligned with malnutrition. Study results contribute to improving nutritional care in nursing homes and long-term-care settings.

This report presents the first detection of canine circovirus (CanineCV) in South Korea, which was identified in a dog with hemorrhagic diarrhea. A 5-year-old male Golden Retriever presented with acute, watery and bloody diarrhea that had persisted for three weeks. Pathologically, granulomatous inflammation, fibrinoid vasculitis, and hemorrhagic foci were observed in the small intestine and mesenteric lymph nodes. Characteristic intracytoplasmic amphophilic inclusion bodies were observed in histiocytic cells within the granulomatous lesions. CanineCV was amplified by polymerase chain reaction from the small intestine, mesenteric lymph nodes, and fecal samples. A genomic analysis of the complete capsid gene from the Korean strain of CanineCV revealed that it shares the highest nucleotide and amino acid sequence similarities, at 94.2% and 94.1% respectively, with the American UCD3-478 isolate. Phylogenetic analysis based on the nucleotide sequence of the capsid gene classified the Korean strain as type 4 CanineCV. This case highlights the importance of genomic surveillance for emerging pathogens in South Korea and lays the groundwork for further research into the epidemiology and pathogenicity of CanineCV in canine enteric diseases.

Streptocaulon juventas, a medicinal plant traditionally used in Vietnam and other Southeast Asian countries, has been previously investigated for certain biological activities of its roots; however, studies on its leaves remain limited. In this study, leaf extracts were evaluated for their in vitro anti-proliferative activity against B16F10 (murine melanoma) and HepG2 (human hepatocellular carcinoma) cell lines, as well as for their αglucosidase inhibitory potential. MTT assays revealed that the hexane (Sj-Hx) and dichloromethane (Sj-DCM) fractions exhibited the strongest cytotoxic effects on B16F10 cells, with IC₅₀ values of 36.09 µg/mL and 45.91 µg/mL, respectively. The hexane fraction (Sj-Hx) also demonstrated potent activity against HepG2 cells, with an IC50 value of 36.65 µg/mL. Notably, none of the extracts exhibited cytotoxicity toward Hs68 normal human fibroblasts, indicating favorable selectivity. DAPI staining further confirmed that both Sj-Hx and Sj-DCM induced nuclear fragmentation and chromatin condensation, consistent with apoptosis induction. Additionally, in vitro assays of anti-diabetic activity revealed that the hexane (Sj-Hx) and ethyl acetate (Sj-EA) extracts displayed the strongest α-glucosidase inhibition, with IC₅₀ values of 221.59 µg/mL and 265.73 µg/mL, respectively. Collectively, these findings suggest that S. juventas leaf extracts possess selective pro-apoptotic activity against cancer cells and represent a promising natural source for the discovery of anti-diabetic agents.