Genomic retrospective evaluation of 20 years of selection in Italian Holstein bulls for feet and legs trait

Under strong directional selection,allelefrequencies rapidly change,allowing the identificationof genomic regions carrying genes and variantsthat control selected traits, as production, functional and morphologicaltraits. Here we searched selection sweeps by birth date regression on EBVs and the analysis of changes in allele frequencies. Genomic retrospective evaluation of recent selection wasperformed in 2918 Italian Holstein bulls born between 1979 and 2011. Genotypedata from SELMOL, PROZOO and INNOVAGEN projects were used.Estimated Breeding Value (EBVs) for 32 traitswereprovided by the Italian Holstein association (ANAFI). Bulls were genotyped with BovineSNP50 v.1 and BovineHD SNPchips. SNPs positions were updated to UMD3.1 using SNPchiMp v.3. Genotypes were imputed using BEAGLE (v.3.3.4) to obtain HD genotypes for all individuals. After quality control, a total of 2918 animals and 613,956 SNPs were included in the working dataset. Birth date regressed on Feet and LegsEBVshowsa strong positive trend in the birth date interval analyzed. To detect genomic regions involved, we first identifiedPLUS- and MINUS-variantanimalsfor the target EBV over the total year range (134 bulls, group OVERALL)and within each birth year (130 bulls, group BY_YEAR). Then,SNP allelic frequencies, within each group,wereobtainedfor PLUS and MINUS variantspools and the absolute allele frequency difference (delta)was calculated. Mean delta valueswere estimated in overlapping sliding windows of 50 SNPs.Only windows with the mean delta above the 75th percentile + 1.5*Interquartile rangewere retained. Only overlapping regions between OVERALL and BY_YEAR group were retained. These regions cover the 0.84% of the total windows analyzed.Among these, two regions seem particularly interesting. The ~686Kb region on BTA10 (from position 62,578 to 63,264 Kb) had the highest mean delta on BY_YEAR. The~417Kb region onBTA20(from position 40,738 to 41,155 Kb)had thehighest mean delta on OVERALL.Bioinformatic analysis is underway to identify candidate genes, QTLsand metabolic pathways under selection for this trait

Diagnosis of hemidiaphragmatic paresis in a preterm infant with transcutaneous electromyography: a case report

Transcutaneous electromyography of the diaphragm (dEMG) is a noninvasive and easy applicable tool to measure the electrical activity of the diaphragm. dEMG monitoring has recently been introduced in the neonatal intensive care unit as a novel cardiorespiratory monitor providing direct information on diaphragmatic breathing activity. We report a preterm infant with suspected paresis of the right diaphragm measured with transcutaneous dEMG, which showed a clear reduction in the electrical activity of the right-sided diaphragm. In conclusion, dEMG provides valuable information on regional diaphragmatic activity, which can assist the clinician in diagnosing hemidiaphragmatic paresis.</jats:p

Transcutaneous electromyography of the diaphragm: a cardio-respiratory monitor for preterm infants

Introduction Chest impedance (CI) is the current standard for cardio-respiratory monitoring in preterm infants but fails to provide direct and quantitative information on diaphragmatic activity. Transcutaneous electromyography (dEMG) is able to measure diaphragmatic activity, but its feasibility and repeatability to monitor respiratory rate (RR) and heart rate (HR) in preterm infants needs to be established. Methods RR and HR were measured simultaneously by dEMG and CI for 1–hour on day 1, 3, and 7 of life in 31 preterm infants (gestational age 29.6 ± 1.8 weeks; birth weight 1380 ± 350 g) on non-invasive respiratory support. Six fixed 1-minute time intervals were selected from each 1-hour recording and both RR and HR were calculated using all intervals or only those with stable dEMG and CI recordings. Results dEMG was well tolerated and signal quality was good. Both RR and HR measured by dEMG and CI were significantly correlated (RR: r = 0.85, HR: r = 0.98) and showed good agreement by the Bland–Altman plot (mean difference (limits of agreement): RR: −2.3 (−17.3 to 12.7) breaths/min and HR: −0.3 (−5.3 to 4.7) beats/min. When analyzing only stable recordings, the correlation (r = 0.92) and agreement (−1.8 (−12.3 to 8.7) breaths/min) for RR improved. Subgroup analyses for postnatal age, gestational age, and mode of support showed similar results suggesting good repeatability of dEMG. Conclusion This study shows that monitoring RR and HR with transcutaneous dEMG is feasible and repeatable in preterm infants

Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study

Objective: To evaluate if non-invasive prenatal testing (NIPT) affects livebirth (LB) prevalence of Down syndrome (DS) in the Netherlands. Method: Data from clinical genetics laboratories and the Working Party on Prenatal Diagnosis and Therapy (2014–2018) and previous published data (1991–2013) were used to assess trends for DS LB prevalence and reduction percentage (the net decrease in DS LBs resulting from selective termination of pregnancies). Statistics Netherlands provided general population data. Results: DS LB prevalence increased from 11.6/10,000 in 1991 to 15.9/10,000 in 2002 (regression coefficient 0.246 [95% CI: 0.105–0.388; p = 0.003]). After 2002, LB prevalence decreased to 11.3/10,000 in 2014 and further to 9.9/10,000 in 2018 (regression coefficient 0.234 (95% CI: −0.338 to −0.131; p &lt; 0.001). The reduction percentage increased from 26% in 1991 to 55.2% in 2018 (regression coefficient 0.012 (95% CI: 0.010–0.013; p &lt; 0.001)). There were no trend changes after introducing NIPT as second-tier (2014) and first-tier test (2017). Conclusions: Introducing NIPT did not change the decreasing trend in DS LB prevalence and increasing trend in reduction percentage. These trends may be caused by a broader development of more prenatal testing that had already started before introducing NIPT.</p