HCMC Hospital of Dermato Venereology

Inborn Errors of Immunity (IEIs) are rare genetic disorders that cause immunodeficiency. Diagnosis and classification of these disorders are challenging due to the heterogeneous clinical manifestations and genetic mutations. This is the first study to fully describe the spectrum of gene mutations and genetic diversity of IEIs in Vietnamese pediatric patients. A cross-sectional study was conducted on pediatric patients diagnosed with IEIs at Children’s Hospital 1, Vietnam, from 2014 to 2024. Ninety-two patients with identified mutations were enrolled. Genetic testing was performed using Sanger, fluorescence in situ hybridization, and whole exome sequencing to identify pathogenic variants. Clinical and epidemiological data were collected from medical records and mutations were classified according to the IUIS 2024 classification. The study identified 99 mutations in 33 different genes, with X-linked inheritance being predominant (53.2%). The antibody deficiency and immune dysregulation groups were the most common (22.8% for each mutation). Nineteen novel mutations were identified, all of which were predictively classified as pathogenic or likely pathogenic. The majority of mutations caused protein truncations, leading to loss of function, especially in the immunodeficiencies affecting cellular and humoral immunity and the phagocyte disorder groups. Clinical manifestations differed markedly between the different gene groups, highlighting the complexity of diagnosing IEIs. The number of cases with mutations causing X-linked inheritance was dominant, which was similar to studies from Asian countries, though different from studies from Africa due to the rates of consanguineous marriage. In addition, the variability between clinical phenotype and genotype in IEIs noted from our study has been a significant obstacle to the classification of diseases and their efficient treatment. This is the largest single center cohort to date in Vietnam to describe gene mutations in children with IEIs. The results of the study emphasize the importance of genetic testing in the diagnosis and treatment of IEIs, and open possible directions for further research for novel mutations.

Background/Objectives: Cancer pain affects 55-95% of patients with advanced malignancy, representing a complex syndrome involving nociceptive, neuropathic and nociplastic mechanisms. Despite therapeutic advances, two-thirds of patients with metastatic cancer experience inadequate pain control. This scoping review synthesizes recent advances in cancer pain pathophysiology and management, focusing on molecular and cellular mechanisms, emerging pharmacological, interventional and technological therapies and key evidence gaps to inform future precision-based pain management strategies. Methods: Following PRISMA-ScR methodology, we searched PubMed, Embase, Scopus, and Web of Science for studies published between January 2022 and September 2025. After screening 3412 records, 278 studies were included and analyzed across different domains: biological mechanisms, pharmacological management, interventional and neuromodulatory approaches, radiotherapy developments, and digital health innovations. Results: Recent mechanistic research reveals cancer pain arises from tumor-neuron-immune crosstalk, with malignant cells secreting neurotrophic factors that promote axonal sprouting and nociceptor sensitization. Genetic polymorphisms and epigenetic modifications contribute to inter-individual pain variability. Management strategies are evolving toward multimodal precision medicine: NSAIDs and opioids remain foundational, complemented by adjuvant agents and interventional procedures including nerve blocks, intrathecal delivery, and neuromodulation (spinal cord and dorsal root ganglion stimulation). Stereotactic body radiotherapy demonstrates superior analgesic durability versus conventional approaches. Digital health innovations, such as mobile applications, remote monitoring, wearables, and AI-enabled predictive models, enable continuous assessment and personalized treatment optimization. Conclusions: Cancer pain management is transitioning toward mechanism-based precision medicine integrating biological insights, advanced interventional techniques, and digital technologies. However, implementation challenges persist, including limited randomized trials for interventional approaches, the incomplete external validation of AI tools, and digital health equity concerns. Future research must prioritize prospective controlled studies and equitable integration into routine care.

[This corrects the article DOI: 10.3389/bjbs.2025.15455.].

Background: Assisted oocyte activation (AOA) has been used to improve fertilization rates after intracytoplasmic sperm injection (ICSI) by artificially increasing oocyte calcium concentration. However, concerns remain about its potential long-term impact on child development. Limited data exist on developmental outcomes in children born after ICSI with AOA. This study investigated psychomotor development at 12 months of age in children born after ICSI with or without AOA. Methods: This prospective cohort study included 55 children born after frozen embryo transfer: 29 in the AOA group and 26 in the non-AOA group. At 12 months, parents completed the Ages and Stages Questionnaire, Third Edition (ASQ-3), and the Developmental Milestones Red Flags checklist, validated for assessing psychomotor development. Parents also reported their child’s physical characteristics (e.g., height and weight) and medical history, including hospital admissions and chronic illnesses. Outcomes included proportions of children with abnormal ASQ-3 scores, Red Flag signs, and adverse medical/growth outcomes. Results: Baseline parental and perinatal characteristics were comparable between groups. At 12 months, no significant differences were observed in the proportion of children with abnormal ASQ-3 scores across five developmental domains (communication, gross motor, fine motor, personal-social, and problem-solving skills). The prevalence of Red Flag signs and rates of illnesses, hospitalizations, and chronic conditions were also similar. However, children in the non-AOA group were significantly taller than those in the AOA group (77.1 ± 2.2 cm vs. 74.6 ± 4.0 cm; [Formula: see text] = 0.02). Conclusions: Children in the AOA group showed similar psychomotor development at 12 months compared to those in the non-AOA group.

Objectives: The virulence of methicillin-susceptible Staphylococcus aureus (MSSA) and methicillin-resistant Staphylococcus aureus (MRSA) differs significantly; however, the antimicrobial effects of advanced platelet-rich fibrin plus (A-PRF+) on these subspecies remain unclear. This study aimed to evaluate the efficacy of A-PRF+ against MSSA and MRSA. Methods: Fifteen male participants volunteered for this study. Solid and liquid forms of A-PRF+ were produced using the DUO Quattro centrifuge machine following the recommended protocol. The inoculum of MSSA and MRSA was prepared from reference samples obtained from the American Type Culture Collection. Both inocula were adjusted to a McFarland standard of 0.5. The antimicrobial effects of A-PRF+ against MSSA and MRSA were evaluated using disk diffusion assays, minimum inhibitory concentration (MIC) tests, and biofilm formation experiments. Results: The disk diffusion assay demonstrated weak antimicrobial activity against both MSSA and MRSA, with inhibition zones measuring 0.68 ± 0.44 mm and 0.69 ± 0.35 mm, respectively. However, MIC testing revealed that A-PRF+ did not exhibit antimicrobial effects against either subspecies following dilution. Finally, A-PRF+ significantly reduced the biofilm-forming capacity of both MSSA and MRSA to approximately 70%. Conclusion: A-PRF+ exhibited weak antimicrobial activity against both MSSA and MRSA in agar diffusion assays. Additionally, A-PRF+ reduced the biofilm-forming capacity of both MSSA and MRSA. However, no significant differences were detected in the antimicrobial effects of A-PRF+ between MSSA and MRSA.

Objective This systematic review and meta-analysis aimed to quantify morphological changes in the anterior maxillary arch—specifically anterior cleft width (CW) and anterior curvature angle (ACA)—following primary lip repair in children with unilateral cleft lip and palate (UCLP). Methods A comprehensive search of PubMed, Google Scholar, DOAJ, and the Cochrane Library was conducted through January 2025. Eligible studies reported quantitative pre- and post-operative data on anterior arch morphology. Pooled effect sizes were calculated using a random-effects model with the Knapp–Hartung adjustment. Meta-regression assessed the influence of baseline cleft width and follow-up duration. Results Ten studies comprising 11 patient cohorts and 265 participants met the inclusion criteria. The pooled mean difference in anterior CW) was −6.217 mm (95% confidence interval (CI): −7.230 to −5.204; P < .001), with substantial heterogeneity ( I ² = 81.8%). Meta-regression identified initial cleft width as a significant predictor ( β = −0.842; P = .002), and follow-up duration showed a borderline association ( β = −0.387; P = .051). The predictive equation was: CW(change) = 4.465 − 0.842 × initial width − 0.387 × duration. Lip repair also reduced the anterior curvature angle (MD = −14.66°; 95% CI: −19.62 to −9.7), though heterogeneity was very high ( I ² = 88.1%). Conclusion Primary lip repair significantly improves anterior arch dimensions in children with UCLP. Initial cleft width predicts postoperative changes, and the proposed model may support early treatment planning. However, due to substantial heterogeneity across studies, small sample sizes in some included cohorts, and very low certainty of evidence for both outcomes (GRADE approach), the findings should be interpreted with caution and considered exploratory.