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Five Devon cattle with suspected ceroid-lipofuscinosis and aged between 19 and 39 months of age were humanely slaughtered and subjected to post-mortem examination. There was severe atrophy of the cerebrum, particularly of the occipital cortex. Microscopy also showed severe atrophy of the retina with complete loss of photoreceptor cells, even in the youngest animal examined. Histopathologically the disease was characterised by accumulation of a fluorescent lipopigment in neurones, including those of the retina and a severe astrocytosis. The disease, which is characterised by the accumulation of subunit c of mitochondrial ATP synthase, is similar to that extensively described in South Hampshire sheep except that the retinal lesions were more severe. In contrast, tremors were not noted in the cattle. The clinical history and similarity to the disease in sheep and other species indicated inheritance was as an autosomal recessive trait. 相似文献
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Doherty ML Kelley EP Healy AM Callanan JJ Crosby TF Skelly C Boland MP 《The Veterinary record》2000,146(26):748-753
Thirty of 52 pedigree Suffolk lambs (58 per cent) were born with arthrogryposis characterised by bilateral flexion rigidity of the metacarpophalangeal and carpal joints. The recent introduction of a breeding ram was identified as the only significant risk factor in the flock, and embryo transfer was used to test the hypothesis that the arthrogryposis was an inherited disorder associated with the introduction of this ram. Two adult ewes that had previously produced lambs with arthrogryposis by the ram and four of its affected daughters were available as donors, and 20 crossbred ewes were used as recipients. Ten Suffolk-crossed ewes that had no known familial relationship with the ram were also mated by the ram as controls and they produced 10 normal lambs. Following embryo transfer, 19 lambs were born, of which seven were stillborn; arthrogryposis was evident in 10 of the 12 live lambs. Analysis of the data suggested that in the population under study, arthrogryposis was inherited as an autosomal recessive condition. 相似文献
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Objective To evaluate standing, percutaneous, ultrasound-guided, transthoracic liver biopsy in mares, and transabdominal, laparoscopically-guided, liver biopsy under general anaesthesia in foals, as techniques for obtaining tissue for assessment of copper status. The techniques were evaluated with respect to ease of use and effect on the animal.
Procedure Twenty of 24 Thoroughbred mares and 21 of their foals were biopsied. The animals were part of a larger study of the effect of copper supplementation on copper status and the prevalence of developmental orthopaedic disease. Livers were also collected from unrelated horses and sampled to investigate the variability in the distribution of copper in liver tissue.
Result The biopsy technique caused no lasting effect on the mares, but there was an increased risk of viscus penetration associated with taking multiple biopsy cores. The use of ultrasonography to scan the target area for the liver identified four cases that were not appropriate candidates for liver biopsy, because of large intestine being located in the biopsy area. In the foals there were no serious postoperative adverse effects, nor was there any evidence of problems caused by the procedure when the abdomen was examined post-mortem at 5 months of age. In livers collected to investigate the variability of copper concentration, copper appeared to be relatively evenly distributed through the liver.
Conclusion Standing, percutaneous, ultrasound-guided, transthoracic liver biopsy in mares, and transabdominal, laparoscopically-guided, liver biopsy under general anaesthesia in foals are convenient procedures for obtaining liver tissue for assessing copper status in horses. The use of ultrasound to identify liver tissue is recommended, especially in older mares. 相似文献
Procedure Twenty of 24 Thoroughbred mares and 21 of their foals were biopsied. The animals were part of a larger study of the effect of copper supplementation on copper status and the prevalence of developmental orthopaedic disease. Livers were also collected from unrelated horses and sampled to investigate the variability in the distribution of copper in liver tissue.
Result The biopsy technique caused no lasting effect on the mares, but there was an increased risk of viscus penetration associated with taking multiple biopsy cores. The use of ultrasonography to scan the target area for the liver identified four cases that were not appropriate candidates for liver biopsy, because of large intestine being located in the biopsy area. In the foals there were no serious postoperative adverse effects, nor was there any evidence of problems caused by the procedure when the abdomen was examined post-mortem at 5 months of age. In livers collected to investigate the variability of copper concentration, copper appeared to be relatively evenly distributed through the liver.
Conclusion Standing, percutaneous, ultrasound-guided, transthoracic liver biopsy in mares, and transabdominal, laparoscopically-guided, liver biopsy under general anaesthesia in foals are convenient procedures for obtaining liver tissue for assessing copper status in horses. The use of ultrasound to identify liver tissue is recommended, especially in older mares. 相似文献
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tests, based on the polymerase chain reaction (
), were developed for the detection of two breed-specific mutations responsible for the autosomal recessive disorder bovine α-mannosidosis. The tests involve separate amplification of two exons of the lysosomal α-mannosidase gene followed by restriction enzyme digestion of the amplicons. We demonstrate that one of the mutations, the 662G→A transition, is responsible for α-mannosidosis in Galloway cattle. The other mutation, the 961T→C transition, is uniquely associated with α-mannosidosis in Angus, Murray Grey and Brangus cattle from Australia. The 961T→C mutation was also detected in Red Angus cattle exported from Canada to Australia as embryos. All 39 animals classified as heterozygotes on the basis of biochemical assays were heterozygous for one of the two mutations. None of 102 animals classified as homozygous-normal on the basis of biochemical assays possessed the mutations. Our results indicate that the two breed-specific mutations may have arisen in Scotland and by the export of animals and germplasm disseminated to America, New Zealand and Australia. 相似文献
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