Sustained Isometric Wrist Flexion and Extension Maximal Voluntary Contractions Similarly Impair Hand-Tracking Accuracy in Young Adults Using a Wrist Robot

Due to their stabilizing role, the wrist extensor muscles demonstrate an earlier onset of performance fatigability and may impair movement accuracy more than the wrist flexors. However, minimal fatigue research has been conducted at the wrist. Thus, the purpose of this study was to examine how sustained isometric contractions of the wrist extensors/flexors influence hand-tracking accuracy. While gripping the handle of a three-degrees-of-freedom wrist manipulandum, 12 male participants tracked a 2:3 Lissajous curve (±32° wrist flexion/extension; ±18° radial/ulnar deviation). A blue, circular target moved about the trajectory and participants tracked the target with a yellow circle (corresponding to the handle's position). Five baseline tracking trials were performed prior to the fatiguing task. Participants then exerted either maximal wrist extension or flexion force (performed on separate days) against a force transducer until they were unable to maintain 25% of their pre-fatigue maximal voluntary contraction (MVC). Participants then performed 7 tracking trials from immediately post-fatigue to 10 min after. Performance fatigability was assessed using various metrics to account for errors in position-tracking, error tendencies, and movement smoothness. While there were no differences in tracking error between flexion/extension sessions, tracking error significantly increased immediately post-fatigue (Baseline: 1.40 ± 0.54°, Post-fatigue: 2.02 ± 0.51°, P < 0.05). However, error rapidly recovered, with no differences in error from baseline after 1-min post-fatigue. These findings demonstrate that sustained isometric extension/flexion contractions similarly impair tracking accuracy of the hand. This work serves as an important step to future research into workplace health and preventing injuries of the distal upper-limb

Investigating the Muscular and Kinematic Responses to Sudden Wrist Perturbations During a Dynamic Tracking Task

Sudden disturbances (perturbations) to the hand and wrist are commonplace in daily activities and workplaces when interacting with tools and the environment. It is important to understand how perturbations influence forearm musculature and task performance when identifying injury mechanisms. The purpose of this work was to evaluate changes in forearm muscle activity and co-contraction caused by wrist perturbations during a dynamic wrist tracking task. Surface electromyography was recorded from eight muscles of the upper-limb. Participants performed trials consisting of 17 repetitions of ±40° of wrist flexion/extension using a robotic device. During trials, participants received radial or ulnar perturbations that were delivered during flexion or extension, and with known or unknown timing. Co-contraction ratios for all muscle pairs showed significantly greater extensor activity across all experimental conditions. Of all antagonistic muscle pairs, the flexor carpi radialis (FCR)-extensor carpi radialis (ECR) muscle pair had the greatest change in co-contraction, producing 1602% greater co-contraction during flexion trials than during extensions trials. Expected perturbations produced greater anticipatory (immediately prior to the perturbation) muscle activity than unexpected, resulting in a 30% decrease in wrist displacement. While improving performance, this increase in anticipatory muscle activity may leave muscles susceptible to early-onset fatigue, which could lead to chronic overuse injuries in the workplace.Brock University Library Open Access Publishing Fun

Werewolf, there wolf : Variants in hairless associated with hypotrichia and roaning in the lykoi cat breed

Publisher Copyright: © 2020 by the authors. Licensee MDPI, Basel, Switzerland.A variety of cat breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed breed, the lykoi (a.k.a. werewolf cat), was bred from cats with a sparse hair coat with roaning, implying full color and all white hairs. The lykoi phenotype is a form of hypotrichia, presenting as a significant reduction in the average numbers of follicles per hair follicle group as compared to domestic shorthair cats, a mild to severe perifollicular to mural lymphocytic infiltration in 77% of observed hair follicle groups, and the follicles are often miniaturized, dilated, and dysplastic. Whole genome sequencing was conducted on a single lykoi cat that was a cross between two independently ascertained lineages. Comparison to the 99 Lives dataset of 194 non‐lykoi cats suggested two variants in the cat homolog for Hairless (HR) (HR lysine demethylase and nuclear receptor corepressor) as candidate causal gene variants. The lykoi cat was a compound heterozygote for two loss of function variants in HR, an exon 3 c.1255_1256dupGT (chrB1:36040783), which should produce a stop codon at amino acid 420 (p.Gln420Serfs*100) and, an exon 18 c.3389insGACA (chrB1:36051555), which should produce a stop codon at amino acid position 1130 (p.Ser1130Argfs*29). Ascertainment of 14 additional cats from founder lineages from Canada, France and different areas of the USA identified four additional loss of function HR variants likely causing the highly similar phenotypic hair coat across the diverse cats. The novel variants in HR for cat hypotrichia can now be established between minor differences in the phenotypic presentations.Peer reviewe

A deletion in GDF7 is associated with a heritable forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts in cats

Publisher Copyright: © 2020 by the authors.An inherited neurologic syndrome in a family of mixed-breed Oriental cats has been characterized as forebrain commissural malformation, concurrent with ventriculomegaly and interhemispheric cysts. However, the genetic basis for this autosomal recessive syndrome in cats is unknown. Forty-three cats were genotyped on the Illumina Infinium Feline 63K iSelect DNA Array and used for analyses. Genome-wide association studies, including a sib-transmission disequilibrium test and a case-control association analysis, and homozygosity mapping, identified a critical region on cat chromosome A3. Short-read whole genome sequencing was completed for a cat trio segregating with the syndrome. A homozygous 7 bp deletion in growth differentiation factor 7 (GDF7) (c.221_227delGCCGCGC [p.Arg74Profs]) was identified in affected cats, by comparison to the 99 Lives Cat variant dataset, validated using Sanger sequencing and genotyped by fragment analyses. This variant was not identified in 192 unaffected cats in the 99 Lives dataset. The variant segregated concordantly in an extended pedigree. In mice, GDF7 mRNA is expressed within the roof plate when commissural axons initiate ventrally-directed growth. This finding emphasized the importance of GDF7 in the neurodevelopmental process in the mammalian brain. A genetic test can be developed for use by cat breeders to eradicate this variant.Peer reviewe

Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits

The amyloidoses constitute a group of diseases occurring in humans and animals that are characterized by abnormal deposits of aggregated proteins in organs, affecting their structure and function. In the Abyssinian cat breed, a familial form of renal amyloidosis has been described. In this study, multi-omics analyses were applied and integrated to explore some aspects of the unknown pathogenetic processes in cats. Whole-genome sequences of two affected Abyssinians and 195 controls of other breeds (part of the 99 Lives initiative) were screened to prioritize potential disease-associated variants. Proteome and miRNAome from formalin-fixed paraffin-embedded kidney specimens of fully necropsied Abyssinian cats, three affected and three non-amyloidosis-affected were characterized. While the trigger of the disorder remains unclear, overall, (i) 35,960 genomic variants were detected; (ii) 215 and 56 proteins were identified as exclusive or overexpressed in the affected and control kidneys, respectively; (iii) 60 miRNAs were differentially expressed, 20 of which are newly described. With omics data integration, the general conclusions are: (i) the familial amyloid renal form in Abyssinians is not a simple monogenic trait; (ii) amyloid deposition is not triggered by mutated amyloidogenic proteins but is a mix of proteins codified by wild-type genes; (iii) the form is biochemically classifiable as AA amyloidosis

Mining the 99 Lives Cat Genome Sequencing Consortium database implicates genes and variants for the Ticked locus in domestic cats (Felis catus)

Tabby patterns of fur coats are defining characteristics in wild and domestic felids. Historically, three autosomal alleles at one locus (Tabby): Abyssinian (Ta; a.k.a. ticked), mackerel (Tm; a.k.a. striped) and blotched (tb; a.k.a. classic, blotched) were thought to control these patterns in domestic cats and their breeds. Currently, at least three loci influence cat tabby markings, two of which are designated Tabby and Ticked. The Tabby locus is laeverin (LVRN) and affects the mackerel and blotched patterns. The unidentified gene for the Ticked locus on cat chromosome B1 was suggested to control the presence or absence of the ticked pattern (Tabby – Abyssinian (Ta; a.k.a. ticked). The cat reference genome (Cinnamon, the Abyssinian) has the ticked phenotype and the variant dataset and coat phenotypes from the 99 Lives Cat Genome Consortium (195 cats) were used to identify candidate genes and variants associated with the Ticked locus. Two strategies were used to find the Ticked allele(s), one considered Cinnamon with the reference allele or heterozygous (Strategy A) and the other considered Cinnamon as having the variant allele or heterozygous (Strategy B). For Strategy A, two variants in Dickkopf Wnt Signaling Pathway Inhibitor 4 (DKK4), a p.Cys63Tyr (B1:41621481, c.188G>A) and a less common p.Ala18Val (B1:42620835, c.53C>T) variant are suggested as two alleles influencing the Ticked phenotype. Bioinformatic and molecular modeling analysis suggests that these changes disrupt a key disulfide bond in the Dkk4 cysteine‐rich domain 1 or Dkk4 signal peptide cleavage respectively. All coding variants were excluded as Ticked alleles using Strategy B