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Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the HEXB Gene 下载免费PDF全文
P. Wang P.S. Henthorn E. Galban G. Lin T. Takedai M. Casal 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2018,32(1):340-347
Background
GM2‐gangliosidosis is a fatal neurodegenerative lysosomal storage disease (LSD) caused by deficiency of either β‐hexosaminidase A (Hex‐A) and β‐hexosaminidase B (Hex‐B) together, or the GM2 activator protein. Clinical signs can be variable and are not pathognomonic for the specific, causal deficiency.Objectives
To characterize the phenotype and genotype of GM2‐gangliosidosis disease in an affected dog.Animals
One affected Shiba Inu and a clinically healthy dog.Methods
Clinical and neurologic evaluation, brain magnetic resonance imaging (MRI), assays of lysosomal enzyme activities, and sequencing of all coding regions of HEXA, HEXB, and GM2A genes.Results
A 14‐month‐old, female Shiba Inu presented with clinical signs resembling GM2‐gangliosidosis in humans and GM1‐gangliosidosis in the Shiba Inu. Magnetic resonance imaging (MRI) of the dog's brain indicated neurodegenerative disease, and evaluation of cerebrospinal fluid (CSF) identified storage granules in leukocytes. Lysosomal enzyme assays of plasma and leukocytes showed deficiencies of Hex‐A and Hex‐B activities in both tissues. Genetic analysis identified a homozygous, 3‐base pair deletion in the HEXB gene (c.618‐620delCCT).Conclusions and Clinical Importance
Clinical, biochemical, and molecular features are characterized in a Shiba Inu with GM2‐gangliosidosis. The deletion of 3 adjacent base pairs in HEXB predicts the loss of a leucine residue at amino acid position 207 (p.Leu207del) supporting the hypothesis that GM2‐gangliosidosis seen in this dog is the Sandhoff type. Because GM1‐gangliosidosis also exists in this breed with almost identical clinical signs, genetic testing for both GM1‐ and GM2‐gangliosidosis should be considered to make a definitive diagnosis. 相似文献887.
Effect of Heat‐treatment on Accuracy of Infrared Spectroscopy and Digital and Optical Brix Refractometers for Measuring Immunoglobulin G Concentration in Bovine Colostrum 下载免费PDF全文
I. Elsohaby J.T. McClure N. Dow G.P. Keefe 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2018,32(1):491-496
Background
Heat‐treatment of colostrum is a method developed to reduce calf exposure to pathogens. Infrared (IR) spectroscopy and Brix refractometers can be used for measuring colostral IgG concentration and assessing colostrum quality.Objectives
To determine the impact of heat‐treatment on accuracy of IR spectroscopy and Brix refractometers for measuring colostral IgG concentration and assessing colostrum quality before and after heat‐treatment.Animals
A total of 60 Holstein dairy cows on 8 commercial dairy farms.Methods
A cross‐sectional study was designed to determine the effect of heat‐treatment at 60°C and 63°C each for 30 and 60 minutes duration on colostral IgG concentration measured by the reference radial immunodiffusion (RID) assay, IR spectroscopy, and digital and optical refractometers.Results
Colostrum IgG concentration significantly decreased after heat‐treatment at 63°C for 30 or 60 minutes as measured by RID, but the IgG values remained unchanged when measured by IR spectroscopy and refractometers. The lowest correlation coefficient found between IR spectroscopy (r = 0.70) and RID results was in colostrum heat‐treated at 63°C for 60 minutes. For digital (r = 0.48) and optical (r = 0.50) refractometers, the lowest correlation coefficient was at 63°C for 30 minutes when compared to RID. The accuracy of the IR spectroscopy, digital and optical Brix refractometers was decreased from 91.7 to 80%, 81.7 to 45%, and 80 to 45%, respectively, when colostrum heat‐treated at 63°C for 60 minutes.Conclusions and Clinical Importance
Radial immunodiffusion, IR spectroscopy, and Brix refractometers exhibit utility for measuring IgG concentration when colostrum heat‐treated at 60°C but does not detect decrease IgG concentrations when heat‐treated at 63°C. 相似文献888.
G. F. Difford D. W. Olijhoek A. L. F. Hellwing P. Lund M. A. Bjerring Y. de Haas 《Acta Agriculturae Scandinavica, Section A - Animal Sciences》2018,68(1):25-32
This study assessed the ranking of dairy cows using individual-level correlations for methane (CH4) emission on-farm using sniffers and in respiration chambers. In total 20 lactating dairy cows, ten Holstein and ten Jerseys were recorded using sniffers installed in milking robots for three weeks of lactation and subsequently in respiration chambers (RC) where they were each recorded on three occasions within the RC. Bivariate linear mixed models were used to determine the individual-level correlations (rI) between sniffer and RC phenotypes as proxies for genetic correlations. Despite differences in feeding and management, the predicted CH4 production from sniffers correlated highly with RC CH4 production rI?=?0.77?±?0.18 and CH4 breath concentration correlated nearly as well with RC CH4 production rI?=?0.75?±?0.20. These correlations between sniffers on-farm and RC demonstrate the potential of sniffers measurements as large-scale indicator traits for CH4 emissions in dairy cattle. 相似文献
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