Nguyen Thi Xuan

Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy characterized by the accumulation of immature myeloid cells in the bone marrow. According to cytogenetic abnormalities, AML patients are stratified into favorable-risk, intermediate- risk, and poor-risk groups; however, differences in inflammatory profiles among these groups remain incompletely understood. This study aimed to investigate the associations between cytogenetic risk categories, clinical characteristics, immunophenotype, and inflammatory expression in AML patients. A total of 63 newly diagnosed AML patients were enrolled. Immunophenotypic profiles were analyzed by flow cytometry, gene expression by quantitative PCR, and cytokine levels by ELISA. The favorable-risk group exhibited significantly lower levels of creatinine, total bilirubin, and indirect bilirubin compared with the intermediate-risk and poor-risk groups. In contrast, nucleated red blood cells and white blood cells were significantly increased in the intermediate-risk group. The AML1-ETO fusion gene was detected in 78.57% of favorable-risk patients and 21.43% of intermediate-risk patients but was absent in the poor-risk group. Immunophenotype analysis indicated that the percentage of CD34+ cells was higher in the poor-risk group than that in the intermediate-risk and favorable-risk groups, while the numbers of CD56+ and CD19+ cells were higher in the favorable-risk group. Moreover, the intermediate-risk and poor-risk patients had enhanced TGF-β and CA125 concentrations than the favorable-risk group. Importantly, the nucleated erythrocyte count was enhanced in AML patients with low CYLD expression. In conclusion, the results in this study provide an important reference document for identifying the association of clinical features and inflammatory expression among the favorable-risk, intermediate-risk, and poor-risk groups. In particular, several biomarkers, including the low CYLD expression, enhanced number of CD34+ cells, and high TGF-β and CA125 levels, are associated with poor outcomes in AML. The results may suggest an important prognosis for CYLD-sensitive AML patients.

Herbal remedies are increasingly adopted as alternatives to conventional pharmacological treatments, particularly among women seeking natural approaches to managing menopausal symptoms. This interest is driven by perceptions of greater safety, affordability, and fewer adverse effects associated with medicinal plants. Vitex agnus‐castus (VAC), commonly known as chaste tree, is one of the most widely utilized botanical agents for women's health. VAC is rich in diverse bioactive constituents, including flavonoids, iridoids, diterpenes, and essential oils, which collectively contribute to its complex pharmacological profile. Emerging evidence from in vitro, in vivo, and clinical studies suggests that VAC may modulate key neuroendocrine pathways involved in menopause through dopaminergic, phytoestrogenic, opioidergic, and indirect serotonergic mechanisms. These actions are proposed to influence prolactin regulation, estrogen receptor activity, mood stability, vasomotor symptoms, and overall hormonal balance during the menopausal transition. This review synthesizes current knowledge on the phytochemical composition and mechanistic pathways of VAC relevant to menopausal symptom management, alongside an evaluation of its safety and clinical tolerability. Although VAC extracts appear generally safe, effective, and well tolerated, further research is needed to clarify molecular targets, determine optimal dosing strategies, identify responsive patient subgroups, and standardize outcome measures to strengthen evidence‐based clinical use.

Acute lymphoblastic leukemia (ALL) is the most common childhood malignant hematologic disease characterized by the uncontrolled accumulation of lymphoid progenitor cells within the bone marrow and peripheral blood. According to the World Health Organization (WHO) classification and National Comprehensive Cancer Network (NCCN) guidelines, ALL patients are classified into two main risk groups, including standard-risk and poor-risk groups based on clinical and biological features, including age at diagnosis, white blood cell count, cytogenetic abnormalities, and early treatment response. Inflammation-related genes, such as tumor necrosis factor-α (TNFα)-induced protein 3 (TNFAIP3, A20), tumor suppressor cylindromatosis (CYLD) and Cezanne genes, are negative regulators of immune cell activation, and cell survival. To this end, 57 patients diagnosed with ALL and 30 healthy subjects were enrolled. Immunophenotype was determined by flow cytometry, gene expression and chromosomal abnormalities by quantitative PCR, and secretion of cytokines by ELISA. As a result, the poor-risk group had age-related higher levels of lactate dehydrogenase (LDH), white blood cell, lymphocytes and neutrophil counts than the standard-risk group. Cytokine analysis revealed that transforming growth factor beta (TGF-β) levels were markedly increased in the poor-risk group. In addition, expression levels of CYLD, A20, and Cezanne genes were not significantly different between the two groups, although CYLD levels tended to be lower in the poor-risk group. Importantly, p210 BCR-ABL and p190 BCR-ABL fusion transcripts were detected more frequently in poor-risk patients. In conclusion, this study indicates that age-related numbers of malignant lymphoid cells, but not inflammatory expression, were associated with poor outcomes in ALL patients.

Quercetin, a naturally occurring flavonol found abundantly in fruits, vegetables, and medicinal plants, has gained considerable attention for its diverse pharmacological properties and therapeutic potential in cancer treatment. Preclinical evidence highlights its multifaceted biological activities, including antioxidant, anti-inflammatory, pro-apoptotic, and anti-angiogenic effects, which collectively target several hallmarks of cancer. Quercetin exerts its anticancer effects by modulating key molecular pathways such as PI3K/Akt, MAPK, NF-κB, and Nrf2, thereby influencing cell proliferation, apoptosis, metastasis, and regulation of the tumor microenvironment. Despite promising laboratory and animal model data, its poor solubility, low bioavailability, and rapid metabolism limit its clinical application. Drug delivery systems such as nanoparticle formulations, liposomes, and micelles have shown potential to overcome these barriers and enhance therapeutic efficacy. Moreover, combination therapies of quercetin with conventional chemotherapeutics demonstrate synergistic effects, offering improved efficacy and reduced toxicity. While early clinical trials and supportive-care applications suggest a favorable safety profile, concerns regarding pharmacokinetics, drug-nutrient interactions, and dose-related side effects remain unresolved. This review summarizes the current knowledge of quercetin’s molecular mechanisms, delivery strategies, safety considerations, and clinical prospects, and provides perspectives for future research aimed at optimizing its role as an adjuvant or standalone anticancer agent.

Background: Toll-like receptor 4 (TLR4) and myeloid differentiation factor 88 (MyD88) signaling play a critical role in colorectal cancer (CRC) development. Despite extensive research, the relationship between genetic variations and protein expression patterns during adenoma-carcinoma progression remains poorly understood.Methods: We conducted a cross-sectional study of 176 CRC patients and 131 adenoma patients. Inclusion criteria required histologically confirmed primary colorectal tumors with adequate tissue content (≥30% tumor cells). TLR4 and MyD88 protein expression was evaluated using immunohistochemistry with standardized scoring systems. DNA sequencing identified genetic variants in TLR4 and MyD88 genes. Multivariate analyses assessed associations between protein expression, genetic variants, and clinicopathological features.Results: TLR4 expression was significantly higher in CRC compared to adenomas (66.5% vs 30.5%, p<0.001), with MyD88 showing widespread expression in both groups (CRC: 97.2%, adenoma: 95.4%). We identified novel variants in TLR4 (9:117713042) and MyD88 (rs138284536), significantly associated with increased CRC risk (OR=8.92, 95% CI: 1.14-69.95, p=0.037 and OR=20.01, 95% CI: 4.72-84.83, p<0.001, respectively). The MyD88 variant correlated with aggressive features including mucinous histology (43.5% vs 22.7%, p=0.036), advanced pT stage (29.6% vs 13.2%, p=0.044), and perineural invasion (61.5% vs 22.1%, p=0.004). Combined TLR4/MyD88 scores ≥5 significantly predicted lymph node metastasis (42.9% vs 28.3%, p=0.046) and high-grade tumor budding (p=0.002).Conclusions: Our study identifies distinct TLR4/MyD88 expression patterns in CRC progression and novel genetic variants associated with aggressive tumor features. These molecular alterations may serve as potential biomarkers for risk stratification and prognostic assessment in CRC patients, while offering promising targets for therapeutic intervention.

Background and Objectives: Acute lymphoblastic leukemia (ALL) is a hematologic malignancy characterized by the aberrant proliferation of immature lymphoid cells. Lymphoblasts derived from the B-cell lymphoid lineage are identified as B-ALL. A20, CYLD and Cezanne are deubiquitinase genes that inhibit inflammatory response and tumor progression. Age-related increases in tumor necrosis factor (TNF)-α are associated with poor outcomes in ALL. Little is known about the associations of A20, CYLD and Cezanne with leukocyte accumulation in B-ALL. Materials and Methods: Blood samples of 147 patients with B-ALL and 144 healthy subjects were examined. Gene expression profiles were determined by quantitative PCR, gene polymorphisms by direct DNA sequencing, immunophenotype by flow cytometry and secretion of inflammatory cytokines by an ELISA. Results: Genetic analysis of the A20 gene identified six nucleotide changes in exon 7. Sequencing of the Cezanne gene identified three variants in intron 10. The results indicated that B-ALL patients carrying the A20 p.P348L and Cezanne rs1230581026 variants had higher variant frequencies and lower expression levels than healthy controls. Importantly, carriers of the A20 p.P348L variant had a higher numbers of CD20⁺ and HLA DR⁺ cells than those with a normal genotype, and carriers of the Cezanne rs1230581026 variant had increases in neutrophil, basophil, monocyte, lymphocyte, and CD38⁺ cell counts as well as age-related increases in the levels of TNF-α. Conclusions: The results indicate that the A20 p.P348L and Cezanne rs1230581026 variants are associated with low expression levels of A20/Cezanne, leukocyte expansion and poor outcomes in B-ALL patients.

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.

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.

Background/Objectives: 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. Methods: 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. Results: 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. Conclusions: 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.