👤 H Lenoir

Children with complex congenital heart disease (CCHD) are at high risk for early neurodevelopmental delays across all domains. Neuromotor delay often emerges first and may impact broader development. Identifying early biomarkers of motor function could capture a critical window for intervention. We assessed the prognostic value of neuron-specific enolase (NSE) and S100B in predicting 4-month motor outcomes in newborns undergoing cardiac surgery with cardiopulmonary bypass (CPB). Between December 2021 and October 2024, we conducted a prospective, single-centre study including term neonates with (CCHD) who required cardiac surgery within the first two months of life. NSE and S100B levels were measured at five perioperative time points. Blinded Alberta Infant Motor Scale (AIMS) assessment at four months evaluated motor outcomes. Of 35 newborns, 27 completed follow-up. Preoperative NSE levels were significantly higher in infants with AIMS scores below the 10th percentile (32.7 vs. 20.9 ng/mL, p = 0.044) and negatively correlated with AIMS percentiles (ρ = -0.617, p = 0.006. There was no significant association between motor outcomes, MRI findings or S100B levels. Higher preoperative NSE levels predict poor early motor outcomes in CCHD and may be a marker for early risk stratification and intervention. Neuron-specific enolase (NSE) may serve as an early biomarker of neuromotor development in newborns with complex congenital heart disease (CCHD). Elevated preoperative NSE levels were associated with poorer motor outcomes at four months. NSE may serve as an additional biomarker within a multimodal risk stratification strategy, complementing clinical, imaging, and electrophysiological assessments to refine prognostic evaluation. These findings highlight the prognostic value of perioperative biomarkers for predicting early motor outcomes and support earlier identification of at-risk newborns, enabling targeted neurodevelopmental interventions. This work adds new evidence to limited literature on biological predictors of motor development after neonatal cardiac surgery. Show less

Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study leveraged whole-genome sequencing (WGS) data from 88,873 participants from the Trans-Omics for Precision Medicine (TOPMed) Program, of which 51% were of non-European population groups. We discovered 18 BMI-associated signals (P < 5 × 10 Show less

The epigenetic mechanisms of asthma remain largely understudied in African Americans and Hispanics/Latinos, two populations disproportionately affected by asthma. We aimed to identify markers, regions and processes with differential patterns of DNA methylation (DNAm) in whole blood by asthma status in ethnically diverse children and youth, and to assess their functional consequences. DNAm levels were profiled with the Infinium MethylationEPIC or HumanMethylation450 BeadChip arrays among 1226 African Americans or Hispanics/Latinos and assessed for differential methylation per asthma status at the CpG and region (differentially methylated region (DMR)) level. Novel associations were validated in blood and/or nasal epithelium from ethnically diverse children and youth. The functional and biological implications of the markers identified were investigated by combining epigenomics with transcriptomics from study participants. 128 CpGs and 196 DMRs were differentially methylated after multiple testing corrections, including 92.3% and 92.8% novel associations, respectively. 41 CpGs were replicated in other Hispanics/Latinos, prioritising cg17647904 ( We report novel whole-blood DNAm markers for asthma underlying key processes of the disease pathophysiology and confirm the transferability of previous asthma DNAm associations to ethnically diverse populations. Show less

Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study leveraged whole-genome sequencing (WGS) data from 88,873 participants from the Trans-Omics for Precision Medicine (TOPMed) Program, of which 51% were of non-European population groups. We discovered 18 BMI-associated signals ( Show less

The quality of pork products from local breeds in extensive systems depends, among other things, on pig production. In particular, the variability in climatic conditions and feeding resources may influence the properties of tissues at slaughter and the quality of pork and processed products. The present study (part 2) was part of a larger project that assessed the influence of the finishing season and feeding resources on carcass and tissue traits and the quality of meat and dry-cured ham from Gascon pigs in an extensive system. Following the specifications of the Protected Designation of Origin "Noir de Bigorre", castrated Gascon males were reared on rangelands (grassland and forest areas) and received a supplementary diet from 5 to 6 months of age until slaughter at a minimum of 12 months and ca. 170 kg BW. Three finishing seasons were considered: Winter (n = 18), Spring (n = 22) and Autumn (n = 23). To estimate the specific effects of season on quality traits and avoid bias due to effects of genes known to influence these traits, polymorphisms in the RYR1, PRKAG3, MC4R and LEPR genes were included in the analysis models. Compared to Winter pigs, Spring and Autumn pigs had higher ultimate pH in the semimembranosus and gluteus medius (GM) muscles, lower meat lightness (P < 0.05) and tended to have higher GM intramuscular fat (IMF) content (P < 0.10). They also had higher GM contents of saturated, monounsaturated and polyunsaturated fatty acids (FAs) than Winter pigs (P < 0.05). Spring pigs had the lowest n-6:n-3 polyunsaturated FA ratio and the highest GM α-tocopherol content (P < 0.001), indicating pig grazing. The finishing season did not influence the processing yield of dry-cured hams (24-month process). Within each seasonal group, ten hams selected for genetic variability and IMF content were analyzed by a trained sensory panel. The season did not modify the appearance or odor, but influenced texture and taste. Hams from Winter and Spring pigs had higher tenderness and melting fat scores than hams from Autumn pigs (P < 0.01). Hams from Spring pigs had higher taste intensity and salty taste (P < 0.01) but lower positive tastes (e.g. fruits, forest) than hams from the other groups. Overall, finishing season had moderate effects on ham sensory traits. Furthermore, our results reveal high redness, tenderness, taste and odor intensity, and low rancid flavor of hams from Gascon pigs produced in an extensive system. Show less

Consumers perceive pork products from local breeds reared in extensive systems positively because of their specific quality properties and regional identity. The sensory, nutritional and technological qualities of these products depend, among other things, on pig production, especially its climatic conditions and the availability of feed resources, which can influence traits of muscle and fat tissue. The present study (part 1) was part of a larger project that assessed the influence of the finishing season and feeding resources on carcass and tissue traits and the quality of meat and dry-cured ham from Gascon pigs in an extensive system. Following the specifications of the Protected Designation of Origin "Noir de Bigorre", castrated Gascon males were reared on rangelands (grassland and forest areas) and received a supplementary diet from 5 to 6 months of age until slaughter at a minimum of 12 months of age and ca. 170 kg live weight. Three finishing seasons were considered as follows: Winter (n = 18), Spring (n = 22) and Autumn (n = 23). To estimate specific effects of season on productive and quality traits and avoid bias due to effects of genes known to influence these traits, polymorphisms in the RYR1, PRKAG3, MC4R and LEPR genes were included in the analysis models. The finishing season did not influence growth rate. Compared to Winter pigs, Spring and Autumn pigs had slightly lower carcass fatness (P < 0.05), higher ultimate pH and redder and darker color of the Longissimus muscle (LM) (P < 0.01). Loin drip loss was low overall, but was higher for Spring pigs, whereas cooking loss and shear force were similar among seasons. Spring pigs tended to have the lowest LM lipid content, whereas LM myoglobin content remained unaffected. Autumn pigs had lower potential of lipid oxidation in LM than Winter and Spring pigs (P < 0.01), but muscle metabolic traits assessed via glycolytic and oxidative enzyme activities did not differ among seasons. The finishing season modified the backfat fatty acid (FA) profile, with a lower polyunsaturated FA percentage in Autumn pigs than Winter or Spring pigs (P < 0.001), even though the saturated and monounsaturated FA percentages did not differ. In particular, Spring pigs had the lowest n-6:n-3 and C18:2:C18:3 ratios (P < 0.001), as a result of grazing. Overall, Spring and Autumn finishing seasons seem more favorable to technological and sensory pork attributes, with an additional positive effect of Spring finishing on pork nutritional value. Show less

Fatty acid synthase (FAS) is the major enzyme of lipogenesis. It catalyzes the NADPH-dependent condensation of acetyl-CoA and malonyl-CoA to produce palmitic acid. Transcription of the FAS gene is controlled synergistically by the transcription factors ChREBP (carbohydrate response element-binding protein), which is induced by glucose, and SREBP-1 (sterol response element-binding protein-1), which is stimulated by insulin through the PI3K/Akt signal transduction pathway. We investigated whether the genetic variability of the genes encoding for ChREBP, SREBP and FAS (respectively, MLXIPL, SREBF1 and FASN) is related to breast cancer risk and body-mass index (BMI) by studying 1,294 breast cancer cases and 2,452 controls from the European Prospective Investigation on Cancer (EPIC). We resequenced the FAS gene and combined information of SNPs found by resequencing and SNPs from public databases. Using a tagging approach and selecting 20 SNPs, we covered all the common genetic variation of these genes. In this study we were not able to find any statistically significant association between the SNPs in the FAS, ChREBP and SREPB-1 genes and an increased risk of breast cancer overall and by subgroups of age, menopausal status, hormone replacement therapy (HRT) use or BMI. On the other hand, we found that two SNPs in FASN were associated with BMI. Show less