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Affected Animals (affected + animals)
Selected AbstractsLocalization of the Gene Causing the Osteopetrotic Phenotype in the Incisors Absent (Ia) Rat on Chromosome 10q32.1,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 2 2004Liesbeth van Wesenbeeck Abstract The incisors absent rat is an osteopetrotic animal model. Segregation analysis in 37 affected animals from an outcross enabled us to assign the disease causing gene to a 4.7-cM interval on rat chromosome 10q32.1. Further analysis of the genes mapped in this region will provide more insight into the underlying pathogenesis. Introduction: Many of the insights into the factors that regulate the differentiation and activation of osteoclasts are gained from different spontaneous and genetically induced osteopetrotic animal models. The osteopetrotic incisors absent (ia) rat exhibits a generalized skeletal sclerosis and a delay of tooth eruption. Although the ia rat has well been studied phenotypically, the genetic defect still remains unknown. Material and Methods: To map the ia locus, we outcrossed the inbred ia strain with the inbred strain Brown Norway. Intercrossing F1 animals produced the F2 generation. Thirty-one mutant F2 animals and six mutant F4 animals were available for segregation analysis. Results: Segregation analysis enabled us to assign the disease causing gene to rat chromosome 10q32.1. Homozygosity for the ia allele was obtained for two of the markers analyzed (D10Rat18 and D10Rat84). Key recombinations delineate a candidate region of 4.7 cM flanked by the markers D10Rat99 and D10Rat17. Conclusion: We have delineated a 4.7-cM region on rat chromosome 10q32.1 in which the gene responsible for the osteopetrotic phenotype of the ia rat is located. Although the sequence of this chromosomal region is not complete, over 140 known or putative genes have already been assigned to this region. Among these, several candidate genes with a putative role in osteoclast functioning can be identified. However, at this point, it cannot be excluded that one of the genes with a currently unknown function is involved in the pathogenesis of the ia rat. Further analysis of the genes mapped in this region will provide us more insight into the pathogenesis of this osteopetrotic animal model. [source] Association between anal furunculosis and colitis in the dog: preliminary observationsJOURNAL OF SMALL ANIMAL PRACTICE, Issue 3 2002P. M. Jamieson Treatment of anal furunculosis in dogs is often unsatisfactory and may be associated with significant recurrence and complications. This may be compounded by the simultaneous presence of colitis in affected animals. Clinical signs associated with colitis and anal furunculosis may be similar, including faecal tenesmus, dyschezia and haematochezia. To examine the incidence of concurrent anal furunculosis and colitis, colonic biopsies were collected from 18 dogs referred for treatment of anal furunculosis. Nine dogs (50 per cent) had a histopathological diagnosis of colitis. Clinical signs more indicative of colitis than anal furunculosis (increased frequency of defecation, mucus in faeces and diarrhoea) were not observed more frequently in dogs with confirmed colitis compared with those with furunculosis alone. Therefore, while an association between colitis and anal furunculosis may exist, clinical signs alone cannot be used as an indicator of the presence of colitis in cases of anal furunculosis. The authors recommend that colonic biopsies should be undertaken in all dogs presented with anal furunculosis. Whether specific treatment of colitis in dogs with histopathological evidence of colitis improves the outcome of treatment for anal furunculosis awaits further study. [source] Palmoplantar hyperkeratosis in Irish terriers: evidence of autosomal recessive inheritanceJOURNAL OF SMALL ANIMAL PRACTICE, Issue 2 2000H. Binder An abnormal development of the epidermis of the footpad was observed in Irish terriers. At the age of six months, the affected animals developed smooth parchment-like footpads. The pad epidermis then hardened and grew lateral cone-like protrusions of up to 5 mm in diameter. Fissures and cracks developed and these predisposed the animal to secondary infection. The repeated occurrence in subsequent generations led to the assumption of a hereditary form of hyperkeratosis. Evidence for an autosomal recessive mode of inheritance was derived from a retrospective analysis of the breeder's records. The clinical, histopathological and ultrastructural features of the disease are presented and the genetic transmission and its implications discussed. [source] Thrombotic Endocarditis in 10 AlpacasJOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 2 2008A.M. Firshman Background: A description of the clinical signs and necropsy findings in 10 alpacas with thrombotic endocarditis. Animals: Clinical cases admitted to 2 veterinary referral hospitals between May 1998 and December 2006. Methods: A retrospective study was performed by searching hospital records to identify alpacas diagnosed with endocarditis. Results: Common clinical findings included sternal recumbency, tachycardia, tachypnea, and abdominal distension. Heart sounds were recorded as normal in 7 of 10 alpacas. Pleural and pericardial effusion and ascites were often present. Complete blood cell counts often suggested inflammation, and liver enzyme activity was often increased. When echocardiography was performed, a soft tissue density was imaged within the right ventricle. All alpacas died or were euthanized. Necropsy revealed mural endocarditis with right ventricular or biventricular fibrinous thrombi obliterating the ventricular lumina with no valvular involvement in 6 of 10 affected animals. Bacteria were not consistently identified as a cause for the endocarditic lesions. Eight of the 10 alpacas had evidence of hepatic fluke infestation. Conclusions and Clinical Importance: Valvular and mural thrombotic endocarditis should be included in the list of differential diagnoses for hepatomegaly, abdominal distension, and other signs of right-sided congestive heart failure in alpacas. The prognosis of this disease is grave. [source] Efficacy of metaphylactic florfenicol therapy during natural outbreaks of bovine respiratory diseaseJOURNAL OF VETERINARY PHARMACOLOGY & THERAPEUTICS, Issue 5 2008B. CATRY The efficacy of an injectable formulation of florfenicol (300 mg/mL) as metaphylactic control of naturally occurring bovine respiratory disease (BRD) was evaluated in two double-blind randomly controlled field studies on two Dutch veal calf herds (A and B). Cattle aged not older than 3 months and in the direct presence of calves with clinical respiratory disease were randomly allocated to treatment with 40 mg/kg florfenicol subcutaneously (s.c.) a positive control treatment (12.5 mg/kg tilmicosin p.o. twice daily for five consecutive days in herd A, and 12.5 mg/kg doxycycline p.o. twice daily for five consecutive days in herd B), or a negative control (one placebo saline s.c. administration on D0). The predominant respiratory pathogens present in pretreatment respiratory samples from affected animals were Mycoplasma bovis and Pasteurella multocida in outbreaks A and B, respectively. Metaphylactic administration of florfenicol resulted in a statistically significant weight gain, decreased rectal temperature for five consecutive days after treatment and decreased metaphylactic failure percentages compared with both positive and negative control groups. In summary, these studies demonstrated that a single s.c. injection of florfenicol is effective and practical for control of the bacterial component of BRD in veal calves. [source] Ethics and Genetic Selection in Purebred DogsREPRODUCTION IN DOMESTIC ANIMALS, Issue 1 2003VN Meyers-Wallen Contents There is an ongoing revolution in medicine that is changing the way that veterinarians will be counselling clients regarding inherited disorders. Clinical applications will emerge rapidly in veterinary medicine as we obtain new information from canine and comparative genome projects (Meyers-Wallen 2001: Relevance of the canine genome project to veterinary medical practice. International Veterinary Information Service, New York). The canine genome project is described by three events: mapping markers on canine chromosomes, mapping gene locations on canine chromosomes (Breen et al. 2001: Genome Res. 11, 1784,1795), and obtaining the nucleotide sequence of the entire canine genome. Information from such research has provided a few DNA tests for single gene mutations [Aguirre 2000: DNA testing for inherited canine diseases. In: Bonagura, J (ed), Current Veterinary Therapy XIII. Philadelphia WB Saunders Co, 909,913]. Eventually it will lead to testing of thousands of genes at a time and production of DNA profiles on individual animals. The DNA profile of each dog could be screened for all known genetic disease and will be useful in counselling breeders. As part of the pre-breeding examination, DNA profiles of prospective parents could be compared, and the probability of offspring being affected with genetic disorders or inheriting desirable traits could be calculated. Once we can examine thousands of genes of individuals easily, we have powerful tools to reduce the frequency of, or eliminate, deleterious genes from a population. When we understand polygenic inheritance, we can potentially eliminate whole groups of deleterious genes from populations. The effect of such selection on a widespread basis within a breed could rapidly improve health within a few generations. However, until we have enough information on gene interaction, we will not know whether some of these genes have other functions that we wish to retain. And, other population effects should not be ignored. At least initially it may be best to use this new genetic information to avoid mating combinations that we know will produce affected animals, rather than to eliminate whole groups of genes from a population. This is particularly important for breeds with small gene pools, where it is difficult to maintain genetic diversity. Finally, we will eventually have enough information about canine gene function to select for specific genes encoding desirable traits and increase their frequencies in a population. This is similar to breeding practices that have been applied to animals for hundreds of years. The difference is that we will have a large pool of objective data that we can use rapidly on many individuals at a time. This has great potential to improve the health of the dog population as a whole. However, if we or our breeder clients make an error, we can inadvertently cause harm through massive, rapid selection. Therefore, we should probably not be advising clients on polygenic traits or recommend large scale changes in gene frequencies in populations until much more knowledge of gene interaction is obtained. By then it is likely that computer modelling will be available to predict the effect of changing one or several gene frequencies in a dog population over time. And as new mutations are likely to arise in the future, these tools will be needed indefinitely to detect, treat and eliminate genetic disorders from dog populations. Information available from genetic research will only be useful in improving canine health if veterinarians have the knowledge and skills to use it ethically and responsibly. There is not only a great potential to improve overall canine health through genetic selection, but also the potential to do harm if we fail to maintain genetic diversity. Our profession must be in a position to correctly advise clients on the application of this information to individual dogs as well as to populations of dogs, and particularly purebred dogs. [source] A missense mutation (p.Leu2153His) of the factor VIII gene causes cattle haemophilia AANIMAL GENETICS, Issue 5 2009M. Khalaj Summary Two cases of hereditary bleeding disorder diagnosed as haemophilia A were recently observed in Japanese Brown cattle. We sequenced the entire coding region of the factor VIII gene of the affected animals to find a causative mutation. A nucleotide substitution of T to A resulting in an amino acid substitution of leucine to histidine (p.Leu2153His) was identified in a highly conserved residue in the C1 domain of factor VIII. Genotyping of 254 normal animals including the pedigree of the affected animals and randomly sampled animals of different breeds confirmed that the substitution is the causative mutation of cattle haemophilia A. [source] A mutation in NF,B interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattleANIMAL GENETICS, Issue 1 2009M. A. Simpson Summary Cardiomyopathy and woolly haircoat syndrome (CWH) of Poll Hereford cattle is a lethal, autosomal recessive disorder. Cardiac and haircoat changes are congenital, neonatal ocular keratitis develops in some cases and death usually occurs within the first 12 weeks of life. We undertook a homozygosity mapping approach to identify the chromosomal location of the causative gene. Seven candidate genes were examined for homozygosity in affected animals: desmoplakin and junction plakoglobin (both previously implicated in human cardiocutaneous syndromes), desmocollin 2, desmoglein 2, plakophilin 2, nuclear factor kappa B (NFKB1) and NF,B interacting protein 1 (PPP1R13L, also known as NKIP1). Homozygosity in 13 affected animals was observed at the PPP1R13L locus, located on bovine chromosome 18. Subsequent sequence analysis revealed a 7-bp duplication (c.956_962dup7) in exon 6 of this 13-exon gene. This frameshift variant is predicted to result in the substitution of three amino acids and the introduction of a premature stop codon at position 325 of the protein product (p.Ser322GlnfsX4). PPP1R13L interacts with NF,B, a family of structurally related transcription factors that regulate genes controlling inflammation, immune responses and cell proliferation and survival. CWH represents a large-animal model for cardiocutaneous disorders caused by a mutation in the PPP1R13L gene. The identification of this bovine mutation also indicates that PPP1R13L and other genes affecting NF,B activity may be candidate genes in the study of human cardiovascular disease. [source] Dicoumarol toxicity in cattle associated with ingestion of silage containing sweet vernal grass (Anthoxanthum odoratum)AUSTRALIAN VETERINARY JOURNAL, Issue 1-2 2002DJ RUNCIMAN A diagnosis of dicoumarol toxicity in a herd of Friesian cattle was made following investigation of the deaths of three mature cows and eleven yearling heifers. Affected stock had been fed wrapped, bailed silage containing approximately 90% sweet vernal grass (Anthoxanthum odoratum). Sweet vernal grass contains coumarin, which can be converted to dicoumarol, a vitamin K antagonist, through the action of moulds. Most deaths were preceded by lethargy, severe anaemia and subcutaneous and internal haemorrhage. Dicoumarol toxicosis was suspected based on clinical signs, necropsy findings and prolonged prothrombin and activated partial thromboplastin times. Dicoumarol analysis of blood from affected animals and silage confirmed the diagnosis. [source] Dicoumarol toxicity in cattle associated with ingestion of silage containing sweet vernal grass (Anthoxanthum odoratum)AUSTRALIAN VETERINARY JOURNAL, Issue 1 2002DJ RUNCIMAN A diagnosis of dicoumarol toxicity in a herd of Friesian cattle was made following investigation of the deaths of three mature cows and eleven yearling heifers. Affected stock had been fed wrapped, bailed silage containing approximately 90% sweet vernal grass (Anthoxanthum odoratum). Sweet vernal grass contains coumarin, which can be converted to dicoumarol, a vitamin K antagonist, through the action of moulds. Most deaths were preceded by lethargy, severe anaemia and subcutaneous and internal haemorrhage. Dicoumarol toxicosis was suspected based on clinical signs, necropsy findings and prolonged prothrombin and activated partial thromboplastin times. Dicoumarol analysis of blood from affected animals and silage confirmed the diagnosis. [source] | ||||||||||