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Marbling is one of the primary carcass attributes utilized in most beef grading systems for eating quality evaluation. In Europe, the current beef grading system is the EUROP grid, which is focused on carcass commercial value and production yield rather than eating quality estimation. The aim of this study was to investigate the relationship between marbling and the most common scores for carcass classification in Europe. If there are strong associations between marbling and European classification scores, marbling score may be estimated from the carcass characteristics. However, this study indicated that European classification scores explain only a slight proportion of the variance in marbling score (32%, 46%, 34% and 21% for the entire cattle group, young bulls, females and steers, respectively). Therefore, whereas the EUROP grid is well adapted to estimate yield, it does not reflect marbling at all. The European beef industry should take into account additional indicators related to beef palatability to assist the determination of the commercial value of carcasses. • European conformation and fatness scores of bovine carcasses are poorly related to marbling score. • Estimation of marbling score is not feasible from carcass characteristics. • Indicators relating to beef eating quality such as marbling should be introduced in carcass grading in Europe. [ABSTRACT FROM AUTHOR]

This study evaluated the contributions of sensory traits to overall liking in Europe. Perceptions by untrained consumers of tenderness, juiciness, flavor liking and overall liking were determined using the Meat Standards Australia protocols. According to European consumer testing with European beef samples, flavor liking was the most important contributor (39%) to beef overall liking, followed by tenderness (31%) and juiciness (24%) (P <.05; R2 > 0.94). The improvement in tenderness over the last decades may explain the highest contribution of flavor liking nowadays. Flavor liking is therefore the main driver of variability in overall liking. Juiciness is the least robust trait which could be influenced by other traits during consumer perception. For outstanding steaks, each sensory trait should have excellent scores and high contributions to overall liking. For medium cuts, one sensory trait with a low score has the potential to be compensated by other traits with higher scores and more emphasis will be placed on the trait with the lowest perception. • Flavor liking is the main driver of variability in overall liking. • The improvement of tenderness is one of the reasons of increasing contribution of flavor liking to overall liking. • Juiciness is the least robust trait that has the least effect size on overall liking. • One sensory trait with a low score has the potential to be compensated by other traits with higher scores. • More emphasis will be placed on the trait with the lowest perception during the determination of overall liking. [ABSTRACT FROM AUTHOR]

Background: Primary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders characterised by deficient ciliary airway clearance that can be associated with laterality defects. We aimed to describe the underlying gene defects, geographical differences in genotypes and their relationship to diagnostic findings and clinical phenotypes., Methods: Genetic variants and clinical findings (age, sex, body mass index, laterality defects, forced expiratory volume in 1 s (FEV 1 )) were collected from 19 countries using the European Reference Network's ERN-LUNG international PCD Registry. Genetic data were evaluated according to American College of Medical Genetics and Genomics guidelines. We assessed regional distribution of implicated genes and genetic variants as well as genotype correlations with laterality defects and FEV 1 ., Results: The study included 1236 individuals carrying 908 distinct pathogenic DNA variants in 46 PCD genes. We found considerable variation in the distribution of PCD genotypes across countries due to the presence of distinct founder variants. The prevalence of PCD genotypes associated with pathognomonic ultrastructural defects (mean 72%, range 47-100%) and laterality defects (mean 42%, range 28-69%) varied widely among countries. The prevalence of laterality defects was significantly lower in PCD individuals without pathognomonic ciliary ultrastructure defects (18%). The PCD cohort had a reduced median FEV 1 z-score (-1.66). Median FEV 1 z-scores were significantly lower in CCNO (-3.26), CCDC39 (-2.49) and CCDC40 (-2.96) variant groups, while the FEV 1 z-score reductions were significantly milder in DNAH11 (-0.83) and ODAD1 (-0.85) variant groups compared to the whole PCD cohort., Conclusion: This unprecedented multinational dataset of DNA variants and information on their distribution across countries facilitates interpretation of the genetic epidemiology of PCD and indicates that the genetic variant can predict diagnostic and phenotypic features such as the course of lung function., Competing Interests: Conflict of interest: The authors have no potential conflicts of interest to disclose., (Copyright ©The authors 2024.)

Background: Fecal elastase-1 (E1) test is a sensitive and specific indirect test. However, there are few data on the best cut-off level in the assessment of exocrine pancreatic function in cystic fibrosis (CF)., Material and Methods: In 725 CF patients and 243 healthy subjects (HS) from Greece, Russia, Poland and the United Kingdom, E1 concentrations were measured. The best cut-off levels for the discrimination between CF and HS (for whole group as well as for individual countries) were calculated., Results: The best cut-off level for the differentiation between CF pancreatic insufficiency and normal pancreatic function in HS was found to be 184 microg/g of feces. However, some inter-country differences were stated. E1 concentrations in the UK subgroup were significantly lower than those found in Polish and Russian CF patients. E1 concentrations in Greek patients were significantly higher than in the other countries. However, E1 concentrations in Delta F508 homozygotes were very similar in all studied subgroups., In Conclusion: In clinical practice, instead of a single best cut-off level for the E1 test, we suggest using a range of values (160-200 microg/g). The presence of different best cut-off levels within countries is a practical consequence of the different distribution of pancreatic function.

We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2,3(21 kb), deletes 21,080 bp spanning introns 1-3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2,3(21 kb) homozygotes and a comparison of compound heterozygotes for deltaF508/CFTRdele2,3(21 kb) with pairwise-matched deltaF508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%), Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype XV-2c/KM. 19 "A" and the same infrequent intragenic microsatellite haplotype 16-33-13 (IVS8CA-IVS 17bTA-IVS 17bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent.