The inter- and intra-observer reliability of a locomotion scoring scale for sheep

A seven point locomotion scoring scale, ranging from 0 = normal locomotion to 6 = unable to stand or move, has been developed. To test the between and within observer reliability of the scale, 65 movie clips of sheep with normal and varying degrees of abnormal locomotion were made. Three observers familiar with sheep locomotion were trained to read the movie clips. Thirty clips were randomly selected and used to test between and within observer agreement. There was high inter-(intra-class correlation coefficient [ICC] = 0.93, weighted kappa [κw] = 0.93) and intra-(ICC = 0.90, κw = 0.91) observer reliability, with no evidence of observer bias. The main between score differences were for scores 0 (normal) and 1 (uneven posture and shortened stride but no head movement). The results indicate that the locomotion scoring scale using groups of defined observations for each point on the scale was reliable and may be a useful research tool to identify and monitor locomotion in individual sheep when used by trained observers

Conditions fostering the implementation of large-scale innovations in schools: Teachers' perspectives

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Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

International audienceVerheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype. To date, only one patient has been reported with a de novo variant in PUF60 that probably affects function (c.505C>T leading to p.(His169Tyr)) associated with DD, microcephaly, craniofacial and cardiac defects. Additional patients were required to confirm the pathogenesis of this association and further delineate the clinical spectrum. Here we report five patients with de novo heterozygous variants in PUF60 identified using whole exome sequencing. Variants included a splice-site variant (c.24+1G>C), a frameshift variant (p.(Ile136Thrfs*31)), two nonsense variants (p.(Arg448*) and p.(Lys301*)) and a missense change (p.(Val483Ala)). All six patients with a PUF60 variant (the five patients of the present study and the unique reported patient) have the same core facial gestalt as 8q24.3 microdeletions patients, associated with DD. Other findings include feeding difficulties (3/6), cardiac defects (5/6), short stature (5/6), joint laxity and/or dislocation (5/6), vertebral anomalies (3/6), bilateral microphthalmia and irido-retinal coloboma (1/6), bilateral optic nerve hypoplasia (2/6), renal anomalies (2/6) and branchial arch defects (2/6). These results confirm that PUF60 is a major driver for the developmental, craniofacial, skeletal and cardiac phenotypes associated with the 8q24.3 microdeletion