Residual cardiovascular risk after percutaneous coronary intervention (PCI) remains a concern despite optimal low-density lipoprotein cholesterol (LDL-C) management. The LDL-C/apolipoprotein B (ApoB) Show more
Residual cardiovascular risk after percutaneous coronary intervention (PCI) remains a concern despite optimal low-density lipoprotein cholesterol (LDL-C) management. The LDL-C/apolipoprotein B (ApoB) ratio is a potential marker for LDL particle size and atherogenicity. This study investigated the prognostic value of the pre-treatment LDL-C/ApoB ratio for major adverse cardiac events (MACE) in patients with coronary artery disease who underwent PCI. Among 2116 consecutive patients enrolled between 2015 and 2022 in the Fukuoka University PCI prospective registry, this study analyzed 1682 individuals who were divided into two groups according to their LDL-C/ApoB ratio (< 1.2 vs. ≥ 1.2). The primary outcome was 3-year MACE. After propensity score matching (315 pairs), the low LDL-C/ApoB ratio (< 1.2) was associated with higher MACE (Adjusted HR 1.50, 95% CI 1.04-2.16, p = 0.030). Restricted cubic spline analysis in the matched cohort revealed a significant continuous inverse association between the LDL-C/ApoB ratio and MACE risk. Notably, this predictive value persisted even after propensity score matching balanced for triglyceride-rich lipoprotein-related markers (triglycerides, remnant-like particle cholesterol) and HDL-C. The pre-treatment LDL-C/ApoB ratio is an independent predictor of MACE after PCI, demonstrating a continuous inverse relationship with risk, even when accounting for other atherogenic lipoproteins. This easily calculable ratio may enhance risk stratification by identifying residual risk associated with LDL particle characteristics. Show less
Patients with tall stature often remain undiagnosed after clinical investigation and few studies have genetically assessed this group, most of them without a systematic approach. To assess prospective Show more
Patients with tall stature often remain undiagnosed after clinical investigation and few studies have genetically assessed this group, most of them without a systematic approach. To assess prospectively a group of individuals with tall stature, with and without syndromic features, and to establish a molecular diagnosis for their growth disorder. Screening by karyotype (n = 42), chromosome microarray analyses (CMA) (n = 16), MS-MLPA (n = 2) targeted panel (n = 12) and whole-exome sequencing (n = 31). We selected 42 patients with tall stature after exclusion of pathologies in GH/IGF1 axis and divided them into syndromic (n = 30) and non-syndromic (n = 12) subgroups. Frequencies of pathogenic findings. We identified two patients with chromosomal abnormalities including SHOX trisomy by karyotype, one 9q22.3 microdeletion syndrome by CMA, two cases of Beckwith-Wiedemann syndrome by targeted MS-MLPA analysis and nine cases with heterozygous pathogenic or likely pathogenic genetic variants by multigene analysis techniques (FBN1 = 3, NSD1 = 2, NFIX = 1, SUZ12 = 1, CHD8 = 1, MC4R = 1). Three of 20 patients analyzed by WES had their diagnosis established. Only one non-syndromic patient had a definitive diagnosis. The sequential genetic assessment diagnosed 14 out of 42 (33.3%) tall patients. A systematic molecular approach of patients with tall stature was able to identify the etiology in 13 out of 30 (43.3%) syndromic and 1 out of 12 (8.3%) non-syndromic patients, contributing to the genetic counseling and avoiding unfavorable outcomes in the syndromic subgroup. Show less