Browsing by Author "Pemberton S"

Now showing 1 - 2 of 2
  • Thumbnail Image
    Item
    Infrared spectroscopy of serum fails to identify early biomarker changes in an equine model of traumatic osteoarthritis
    (Elsevier Ltd on behalf of Osteoarthritis Research Society International (OARSI), 2022-12) Panizzi L; Vignes M; Dittmer KE; Waterland MR; Rogers CW; Sano H; McIlwraith CW; Pemberton S; Owen M; Riley CB
    OBJECTIVE: to determine the accuracy of infrared (IR)-based serum biomarker profiling to differentiate horses with early inflammatory changes associated with a traumatically induced model of equine carpal osteoarthritis (OA) from controls. METHOD: unilateral carpal OA was induced in 9 of 17 healthy Thoroughbred fillies, while the remainder served as sham operated controls. Serum samples were obtained before induction of OA (Day 0) and weekly thereafter until Day 63 from both groups. Films of dried serum were created, and IR absorbance spectra acquired. Following pre-processing, partial least squares discriminant analysis (PLSDA) and principal component analysis (PCA) were used to assess group and time differences and generate predictive models for wavenumber ranges 1300-1800 ​cm-1 and 2600-3700  ​cm-1. RESULTS: the overall correct classification rate when classifying samples by group (OA or Sham) was 52.7% (s.d. ​= ​12.8%), while it was 94.0% (s.d. ​= ​1.4%) by sampling Day. The correct classification results by group-sampling Day combinations with pre-intervention serum (Day 0) was 50.5% (s.d. ​= ​21.7%). CONCLUSION: with the current approach IR spectroscopic analysis could not differentiate serum of horses with induced carpal OA from that of controls. The high classification rate obtained by Day of sampling may reflect the effect of exercise on the biomarker profile. A longer study period (advanced disease) or naturally occurring disease may provide further information on the suitability of this technique in horses.
  • Thumbnail Image
    Item
    X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat
    (Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine, 2022-09-26) Kopke MA; Shelton GD; Lyons LA; Wall MJ; Pemberton S; Gedye KR; Owen R; Guo LT; Buckley RM; Valencia JA; 99 Lives Consortium; Jones BR
    OBJECTIVE: Describe the clinical course and diagnostic and genetic findings in a cat with X-linked myotubular myopathy. CASE SUMMARY: A 7-month-old male Maine coon was evaluated for progressively worsening gait abnormalities and generalized weakness. Neurolocalization was to the neuromuscular system. Genetic testing for spinal muscular atrophy (LIX1) was negative. Given the progressive nature and suspected poor long-term prognosis, the owners elected euthanasia. Histopathology of skeletal muscle obtained post-mortem disclosed numerous rounded atrophic or hypotrophic fibers with internal nuclei or central basophilic staining. Using oxidative reactions mediated by cytochrome C oxidase and succinic dehydrogenase, scattered myofibers were observed to have central dark staining structures and a "ring-like" appearance. Given the cat's age and clinical history, a congenital myopathy was considered most likely, with the central nuclei and "ring-like" changes consistent with either centronuclear or myotubular myopathy. Whole genome sequencing identified an underlying missense variant in myotubularin 1 (MTM1), a known candidate gene for X-linked myotubular myopathy. NEW OR UNIQUE INFORMATION PROVIDED: This case is the first report of X-linked myotubular myopathy in a cat with an MTM1 missense mutation. Maine coon cat breeders may consider screening for this variant to prevent production of affected cats and to eradicate the variant from the breeding population.