Gastric cancer (GC) in adolescents and young adults (AYA; 15–39 years) is rare but clinically distinct. Contemporary global estimates and temporal drivers – particularly age–period–cohort (APC) effects and socioeconomic differentials – remain unclear. We conducted a secondary analysis using data from the Global Burden of Disease 2021 database and quantified the incidence, mortality, and disability-adjusted life years of AYA GC across 204 countries and territories from 1990 to 2021. Age-standardized rates and estimated annual percentage changes (EAPCs) were calculated using log-linear regression. APC models were used to describe age-, period-, and cohort-related patterns. Disease burden was stratified by Socio-demographic Index (SDI), and Global Burden of Disease (GBD)-attributed deaths related to diets high in sodium and smoking were examined within the GBD comparative risk assessment framework. From 1990 to 2021, the global AYA GC burden declined substantially, yet disparities by sex, SDI, and cohort persisted. Globally, the age-standardized incidence rate of AYA GC decreased from 2.45 per 1,00,000 population in 1990 to 1.41 per 1,00,000 population in 2021, with an EAPC of −2.04% (95% confidence interval [CI]: −2.21 to −1.88). Deaths declined from 38.15 × 103 to 24.27 × 103, with an EAPC of −2.75% (95% CI: −2.94 to −2.57). The age-standardized disability-adjusted life year rate decreased from 99.73 to 46.64 per 1,00,000 population, with an EAPC of −2.54% (95% CI: −2.63 to −2.46). Males consistently had higher burdens than females. Incidence was positively correlated with SDI over time (r = 0.2393, P < .001), whereas mortality was negatively correlated with SDI in the 2021 cross-sectional analysis (r = −0.3092, P < .001). APC analysis showed a positive age effect peaking at 35 to 39 years and a net drift of −2.18% per year. Within the GBD comparative risk assessment framework, the GBD-attributed proportion of AYA GC deaths related to diets high in sodium was approximately 15% in East Asia in 2021, while the GBD-attributed proportion related to smoking exceeded 10% in parts of Central and Eastern Europe.
Mao-Qiang Liu, Zhen-Zhen Peng, Wei Liu et al.· Medicine· 0 citations
Background/Objectives: Non-invasive prenatal testing for monogenic disorders (NIPT-MD) provides a safe alternative to invasive procedures. However, its clinical utility is often limited by challenges such as low fetal fractions (FF), technical artifacts, and the difficulty in resolving maternally inherited pathogenic variants from the overwhelming background of maternal cell-free DNA (cfDNA). This study aimed to develop and validate a robust NIPT-MD platform for monogenic disorders, applicable across major common Mendelian inheritance patterns, by enhancing the accuracy of fetal variant detection in cfDNA. Methods: We developed a novel NIPT-MD platform validated using both simulated samples and a retrospective clinical cohort. The workflow involves a single-strand capture library preparation incorporating unique molecular identifiers (UMIs) to mitigate amplification artifacts. FF was precisely quantified using a fixed panel of high-minor-allele-frequency single-nucleotide polymorphisms (SNPs). Fetal genotypes were then inferred by resolving parental haplotypes through a statistical model that integrates weighting of variant allele frequency (VAF) and haplotype-informative SNP counts. Results: The single-strand capture protocol incorporating UMIs significantly reduced amplification biases. Validation of the fetal DNA fraction estimation algorithm revealed strong concordance with a Y-chromosome-derived method and expected spike-in samples. Optimization of the FF estimation panel conferred greater experimental stability. The platform reliably detected both paternally and maternally inherited pathogenic variants. In a retrospective cohort of 35 clinical cases, the NIPT-MD platform achieved high concordance with genotypes determined by invasive testing. Conclusions: These findings present an accurate and robust NIPT-MD platform for monogenic disorders, with high concordance to invasive testing validated in a retrospective cohort of 35 clinical cases. This method holds promise for clinical application in managing families at high risk of monogenic diseases.
Jie Shen, Wei Liu, Li Lu et al.· Diagnostics· 0 citations
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