{"title":"通过对储存的血液进行基因分型检测，诊断出一例患有先天性哮喘的荷斯坦小牛肌无力与 CACNA1S 有关的临床病例。","authors":"Hisashi Inokuma, Masaki Maezawa, Yoshiyuki Miyazaki, Atsushi Ogino, Ken-Ichi Watanabe, Yoshiyasu Kobayashi","doi":"10.1292/jvms.24-0308","DOIUrl":null,"url":null,"abstract":"<p><p>A homozygous calf with CACNA1S-related muscle weakness, a new autosomal recessive congenital disorder in Holstein cattle, was identified by genotyping 195 stored blood samples from Holstein calves aged less than 12 months. The patient was an 8-day-old male calf with congenital astasia which presented to a university hospital in 2019. The patient was unable to maintain an upright position with assistance to stand. Congenital abnormalities in the central nervous system were suspected, but necropsy revealed no specific lesion, with no clear diagnosis. CACNA1S-related muscle weakness should be considered a cause of congenital astasia or weakness in calves. Genotyping is required for a definitive diagnosis because clinical and laboratory findings are non-specific.</p>","PeriodicalId":49959,"journal":{"name":"Journal of Veterinary Medical Science","volume":" ","pages":""},"PeriodicalIF":1.1000,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A clinical case of CACNA1S-related muscle weakness in a Holstein calf with congenital astasia diagnosed by a genotyping test of stored blood.\",\"authors\":\"Hisashi Inokuma, Masaki Maezawa, Yoshiyuki Miyazaki, Atsushi Ogino, Ken-Ichi Watanabe, Yoshiyasu Kobayashi\",\"doi\":\"10.1292/jvms.24-0308\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A homozygous calf with CACNA1S-related muscle weakness, a new autosomal recessive congenital disorder in Holstein cattle, was identified by genotyping 195 stored blood samples from Holstein calves aged less than 12 months. The patient was an 8-day-old male calf with congenital astasia which presented to a university hospital in 2019. The patient was unable to maintain an upright position with assistance to stand. Congenital abnormalities in the central nervous system were suspected, but necropsy revealed no specific lesion, with no clear diagnosis. CACNA1S-related muscle weakness should be considered a cause of congenital astasia or weakness in calves. Genotyping is required for a definitive diagnosis because clinical and laboratory findings are non-specific.</p>\",\"PeriodicalId\":49959,\"journal\":{\"name\":\"Journal of Veterinary Medical Science\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2024-11-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Veterinary Medical Science\",\"FirstCategoryId\":\"97\",\"ListUrlMain\":\"https://doi.org/10.1292/jvms.24-0308\",\"RegionNum\":4,\"RegionCategory\":\"农林科学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"VETERINARY SCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Veterinary Medical Science","FirstCategoryId":"97","ListUrlMain":"https://doi.org/10.1292/jvms.24-0308","RegionNum":4,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"VETERINARY SCIENCES","Score":null,"Total":0}
A clinical case of CACNA1S-related muscle weakness in a Holstein calf with congenital astasia diagnosed by a genotyping test of stored blood.
A homozygous calf with CACNA1S-related muscle weakness, a new autosomal recessive congenital disorder in Holstein cattle, was identified by genotyping 195 stored blood samples from Holstein calves aged less than 12 months. The patient was an 8-day-old male calf with congenital astasia which presented to a university hospital in 2019. The patient was unable to maintain an upright position with assistance to stand. Congenital abnormalities in the central nervous system were suspected, but necropsy revealed no specific lesion, with no clear diagnosis. CACNA1S-related muscle weakness should be considered a cause of congenital astasia or weakness in calves. Genotyping is required for a definitive diagnosis because clinical and laboratory findings are non-specific.
期刊介绍：
JVMS is a peer-reviewed journal and publishes a variety of papers on veterinary science from basic research to applied science and clinical research. JVMS is published monthly and consists of twelve issues per year. Papers are from the areas of anatomy, physiology, pharmacology, toxicology, pathology, immunology, microbiology, virology, parasitology, internal medicine, surgery, clinical pathology, theriogenology, avian disease, public health, ethology, and laboratory animal science. Although JVMS has played a role in publishing the scientific achievements of Japanese researchers and clinicians for many years, it now also accepts papers submitted from all over the world.
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