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1.
The objective of this review is to introduce equine clinicians to the rapidly evolving field of clinical genomics with a vision of improving the health and welfare of the domestic horse. For 15 years a consortium of veterinary geneticists and clinicians has worked together under the umbrella of The Horse Genome Project. This group, encompassing 22 laboratories in 12 countries, has made rapid progress, developing several iterations of linkage, physical and comparative gene maps of the horse with increasing levels of detail. In early 2006, the research was greatly facilitated when the US National Human Genome Research Institute of the National Institutes of Health added the horse to the list of mammalian species scheduled for whole genome sequencing. The genome of the domestic horse has now been sequenced and is available to researchers worldwide in publicly accessible databases. This achievement creates the potential for transformative change within the horse industry, particularly in the fields of internal medicine, sports medicine and reproduction. The genome sequence has enabled the development of new genome‐wide tools and resources for studying inherited diseases of the horse. To date, researchers have identified 11 mutations causing 10 clinical syndromes in the horse. Testing is commercially available for all but one of these diseases. Future research will probably identify the genetic bases for other equine diseases, produce new diagnostic tests and generate novel therapeutics for some of these conditions. This will enable equine clinicians to play a critical role in ensuring the thoughtful and appropriate application of this knowledge as they assist clients with breeding and clinical decision‐making.  相似文献   

2.
A 13‐year‐old Quarter Horse mare was presented to the Ontario Veterinary College Teaching Hospital with chronic progressive respiratory noise and exercise intolerance. Severe respiratory stridor associated with a laryngeal mass was seen on upper airway endoscopy. Ultrasonography revealed an intra‐cartilagenous mass and allowed for a guided biopsy. Histological analysis of the mass characterised a neuroendocrine tumour and the mare was subjected to euthanasia due to the poor prognosis. Ultrasound examination was paramount in making the diagnosis and facilitating the biopsy. To our knowledge, neuroendocrine tumours have not previously been reported in the equine larynx.  相似文献   

3.
Osteochondrosis (OC) is an injury to cartilage canals with a following necrosis in the growth cartilage, from there it can develop to osteochondrosis dissecans (OCD). Due to its high impact in the equine industry, new insights into predisposing factors and potential high‐risk genetic variants are warranted. This article reviews advancements in quantitative and molecular genetics in refining estimation of genetic parameters and identifying predisposing genetic loci. Heritabilities were highest for hock OC with estimates at 0.29–0.46 in Hanoverian warmblood and Norwegian trotters, whereas in Thoroughbreds only very low genetic variation seemed to be present in hock OC lesions. Whole genome scans using the Illumina Equine SNP50 or SNP70 Beadchip were performed in Thoroughbred, Standardbred, French and Norwegian trotter, Hanoverian and Dutch warmblood. Validation studies in Spanish Purebred and Hanoverian warmblood horses corroborated OC risk loci on ECA 3, 14, 27 and 29. Particularly, a strong association with hock‐OCD was found for a single nucleotide polymorphism (SNP) on horse chromosome (ECA) 3 upstream to the LCORL gene. Gene expression and microRNA analyses may be helpful to understand pathophysiological processes in equine OC and to connect OCD‐associated genomic regions with potential candidate genes. Furthermore progress in elucidating the underlying genetic variants and pathophysiological changes in OC may be expected from whole genome DNA and RNA next‐generation sequencing studies.  相似文献   

4.
A 21-year-old Quarter Horse mare presented for a mass of the right nictitating membrane. The entire right nictitating membrane was surgically removed and diagnosed as a mixed cell lymphosarcoma and squamous cell carcinoma. The horse had no systemic signs of lymphosarcoma. Approximately 1.5 years later, the horse presented with a similar mass in the left nictitating membrane. The entire left nictitating membrane was surgically removed and diagnosed as a mixed cell lymphosarcoma. In this case, complete surgical removal of the masses resulted in a cure. The horse has remained free of systemic lymphosarcoma for over 3 years.

Case report

A 21-year-old gray Quarter Horse mare was presented to the Kansas State University Veterinary Medical Teaching Hospital for evaluation of a mass involving the right nictitating membrane. The mass was first noticed 5 weeks before presentation and had been treated by the referring veterinarian with a topical steroid solution twice daily. Administration of the topical steroid caused some decrease in the swelling, but it quickly returned once medication was discontinued. The horse had no other medical complaints and appeared to be otherwise healthy. On ocular examination, chemosis of the third eyelid and conjunctiva of the right eye was evident. Direct and indirect pupillary light reflexes, Schirmer tear test, and intraocular pressures were normal in both eyes. Fluorescein stain uptake was negative in both corneas. Cranial nerve and vision examinations did not reveal any abnormalities. On further examination of the right nictitating membrane, a firm mass was palpated under and protruding from the palpebral conjunctiva (Fig 1). No other abnormalities were found on physical examination.  相似文献   

5.
To investigate morphological and genomic differences between cutting and racing lines of Quarter Horses, 120 racing and 68 cutting animals of both sexes, registered at the Brazilian Association of Quarter Horse Breeders, were used. Blood samples were collected, and the following physical traits were measured: weight; height at withers; body length; length of the shank, pastern, rump, head, and neck; and chest, shank, and hoof circumference. For analysis of genomic differences, 54,602 single-nucleotide polymorphisms (SNPs) were genotyped using the Equine SNP50 BeadChip, and the quality of individual and SNP genotype data were evaluated. The fixation index, FST, was used to identify genome regions that were altered in the lines by selection. The results showed significant differences between the lines in all physical traits. Quality control led to the exclusion of four cutting animals with a call rate of <0.95. After filtering, 12,544, 13,815, and 13,370 SNPs were excluded for the whole population (n = 184), the 120 racing animals, and the 64 cutting animals, respectively. The number of informative polymorphisms detected in each line and in the whole population indicated that the Equine SNP50 BeadChip can be used in genetic studies of Quarter Horses. The fixation index, FST, identified 2,558 genome regions that may have been modified by divergent selection.  相似文献   

6.
A 17-year-old Quarter Horse mare developed rapidly progressive, bilateral, firm enlargements of both mammary glands, ventral abdominal edema, dyspnea, and neurologic signs. The horse was euthanatized, and a carcinoma of the mammary gland was diagnosed at necropsy. Microscopically, normal glandular parenchyma was replaced by neoplastic nodules, and the tumor had metastasized to most visceral organs and throughout the musculoskeletal and central nervous systems. The tumor had a solid pattern, with microglandular differentiation, and numerous syncytial sheets.  相似文献   

7.
A 20‐year‐old Quarter Horse mare was presented with a firm, nonpainful swelling near the axial margin of the left mammary gland. Ultrasound examination of the mass revealed a 35 mm poorly encapsulated, homogeneous mass within the parenchyma of the left mammary gland. Using histopathology and immunohistochemistry, the mass was diagnosed as a mammary carcinoma and showed positivity for cytokeratin 18 (CK18), vimentin and α‐smooth muscle actin. Additionally, the mRNA expression level of the oncogene cMyc did not show a significant upregulation, whereas p53, a well‐known tumour suppressor gene in breast cancer, was significantly reduced in comparison with healthy equine mammary gland tissue. To the authors' knowledge, this is the first report of a significant downregulation of p53 expression in a mammary carcinoma of a mare.  相似文献   

8.
Polysaccharide storage myopathy (PSSM), identified in 1992 in a subset of horses with exertional rhabdomyolysis, is a glycogenosis characterized by amylase-resistant polysaccharide in a small number of skeletal muscle fibers along with 1.5 to 4 times normal muscle glycogen. Extensive biochemical and physiological analyses failed to identify defects in glycogenolysis and glycolysis. In 2008, a genome-wide association analysis detected a locus on equine chromosome 10 that was strongly associated with the PSSM in Quarter Horses. Glycogen synthase 1 (GYS1), which encodes the skeletal muscle isoform of glycogen synthase (GS), was a strong candidate gene for PSSM based on its location on equine chromosome 10. Sequencing of the GYS1 gene in PSSM and control Quarter Horses identified only one single base-pair change that resulted in an amino acid substitution in the GS enzyme. Mean GS activity was higher in PSSM than control muscle homogenates in both the presence and absence of the allosteric activator glucose 6-phosphate, suggesting that the GS enzyme in horses with PSSM is constitutively active. High-grain diets increase serum insulin concentrations which further act to stimulate GS activity. An restriction fragment length polymorphism assay for the GYS1 mutation showed that 10% of the Quarter Horse breed and a minimum of 20 other breeds have the GYS1 mutation. Muscle biopsies obtained after 20 minutes of aerobic exercise revealed much higher inosine monophosphate concentrations and lower adenosine monophosphate in whole muscle and single fibers from PSSM as compared with control horse muscle. Thus, the GYS1 mutation responsible for PSSM seems to cause an energy imbalance exacerbated by high-grain diets, which results in adenine nucleotide degradation in individual muscle fibers of horses with PSSM during submaximal exercise.  相似文献   

9.
A 7-year-old Quarter Horse mare was presented for severe left hindlimb oedema and nonweightbearing lameness that was progressive over approximately 48 h. The mare subsequently developed marked and worsening oedema, immune-mediated haemolytic anaemia (IMHA), myositis and myocarditis. The marked oedema, degree of pain and severity of myositis were consistent with infarctive purpura haemorrhagica. Fine needle aspiration of affected tissue resulted in positive bacterial culture of Staphylococcus aureus. Purpura haemorrhagica and associated complications are typically associated with Streptococcal sp. infection or exposure, and have not been previously reported in association with Staphylococcus aureus in the horse. The mare responded favourably to long-term, high-dose corticosteroid therapy, antimicrobials and supportive care.  相似文献   

10.
A 3-y-old, female Quarter Horse with a history of acute neurologic signs was found dead and was submitted for postmortem examination. Areas of petechial and ecchymotic hemorrhage were present on cross-sections of the cerebrum, cerebellum, and brainstem. Histologic examination of the brain revealed severe, purulent meningoencephalitis and vasculitis with a myriad of intralesional gram-positive cocci. Streptococcus pluranimalium was identified from formalin-fixed, paraffin-embedded tissue obtained from sites with active lesions by PCR and nucleotide sequencing of bacterial 16S ribosomal RNA. S. pluranimalium should be considered as a cause of meningoencephalitis in a horse.  相似文献   

11.
This case report describes the identification of multiple soft tissue sarcomas in the pharyngeal region of a 5‐year‐old Quarter Horse mare. Diagnostic work‐up included physical examination, radiography, ultrasonography, endoscopic examination of upper airways and guttural pouch, and post mortem examination with histopathology. Humane euthanasia was indicated due to the chronicity of the condition, prognosis and financial constraints.  相似文献   

12.
This case report describes an uncommon case of a congenitally incompetent cervix and a resulting pneumouterus in a 5‐year‐old maiden Quarter Horse mare. The mare was presented for artificial insemination at the Clinic for Animal Reproduction, Freie Universität Berlin, Germany. Routine vaginal and rectal examinations revealed a shortened cervix of 3 cm length and a dilated uterus filled with a considerable amount of air. During ultrasonographic examination, ovaries of normal size with regular cyclic activity were detected. Chromosomal analysis could not confirm any genetic anomalies such as an expected XO karyotype. The mare was excluded from breeding due to its anatomical constitution.  相似文献   

13.
Primary hyperparathyroidism is rare in large animal species, and little is known regarding its pathophysiology, endocrine and electrolyte derangements, diagnosis, medical management, and prognosis. This report describes the clinicopathologic diagnosis of a parathyroid (PT) gland chief cell adenoma in a 12-year-old Quarter Horse mare, including PT hormone (PTH) and electrolyte disarrangements associated with the neoplasia, the surgical removal of the adenoma, and medical management of the case. This report also describes for the first time the use PTH immunohistochemistry to confirm the nature of this neoplasia in a horse.  相似文献   

14.
A 13‐year‐old Quarter Horse mare presented for evaluation of chronic intermittent colic. Following extensive diagnostics, abdominal radiographs revealed two round, radiopaque objects in the caudal abdomen. Palpation per rectum and transrectal ultrasonography of the reproductive tract confirmed that the round objects were uterine marbles. Dinoprost tromethamine (Lutalyse, 5 mg i.m. q. 24 h for 2 days) was administered to bring the mare into oestrus, and both uterine marbles were manually removed from the uterus following digital dilation of the relaxed cervix. Follow‐up with the owner 12 months after discharge revealed that the mare had shown no further signs of abdominal discomfort since having the uterine marbles removed. To the authors' knowledge, this is the first published report of chronic intermittent colic attributed to uterine marbles in a mare.  相似文献   

15.
Hereditary equine regional dermal asthenia (HERDA) results from a genetic mutation which affects the skin and other tissues of Quarter Horses and horses with Quarter Horse lineage. The disease HERDA has an autosomal recessive mode of inheritance and has become a significant concern in the Quarter Horse industry due to the high frequency of heterozygote carriers. Affected homozygous horses appear normal at birth; however, within the first 2 years of life they usually acquire loose, hyperextensible skin and wounds which result in disfiguring scars either spontaneously or from minor trauma. Some severely affected horses also develop haematomas and seromas. Consequently, most affected horses are subjected to euthanasia at an early age. No treatment options other than palliative therapy currently exist. As part of a five panel test ( http://www.aqha.com/News/News-Articles/2013/April/04292013-Genetic-Testing.aspx ) the American Quarter Horse Association presently requires DNA testing for HERDA on all breeding stallions. There are currently no restrictions on registration of horses heterozygous or homozygous for the HERDA mutation. Due to the autosomal recessive nature of the disease, Quarter Horse mares and horses of all breeds from HERDA‐associated bloodlines should also be tested.  相似文献   

16.
A 15‐year‐old Quarter Horse mare was examined for significant and progressive lameness in the right front limb. On physical examination, muscle atrophy over the scapular and pectoral regions were noted. A pain response was elicited on palpation of the scapulohumeral joint. No other abnormalities were noted on examination of the limb. Diagnostic nerve blocks ruled out a source of lameness in the distal limb. Arthrocentesis of the scapulohumeral joint was performed and results were within normal limits. Radiographs of the right scapulohumeral joint revealed an extensive, aggressive bone lesion in the proximal humerus, suspected to be an osteosarcoma. After a course of nonsteroidal anti‐inflammatory therapy, minimal improvement to the lameness was noted. The owner elected to subject the horse to euthanasia due to the lack of significant response to treatment. Post mortem radiographic and histological examinations determined a definitive diagnosis of an osteosarcoma in the proximal humerus.  相似文献   

17.
Use of a neodymium:yttrium-aluminum-garnet laser to remove exuberant granulation tissue from the esophagus of a horse A 4-year-old Quarter Horse mare was evaluated because of recurrent esophageal obstruction. Endoscopic examination revealed a proliferative mass in the esophagus approximately 55 cm aborad to the nares. Histologic examination of biopsy specimens revealed diffuse suppurative esophagitis and granulation tissue with no evidence of neoplasia. The mass was excisedand ablated transendoscopically with a neodymium:yttrium-aluminum-garnet laser. During a follow-up examination 2 weeks after the final laser procedure, the mass was no longer apparent, and the esophagus appeared healed. Six months after the final examination, there had been no recurrence of the mass. In this horse, transendoscopic laser excision was efficacious and avoided problems associated with an esophagotomy.  相似文献   

18.
In horses, twin pregnancy is pathological and represents a potentially life‐threatening condition to the mare and foal. Twinning occurs in approximately 2% of pregnancies. Of these, the majority of cases are dizygotic twins, resulting from 2 ovulations and monozygotic twins are rare. A 12‐year‐old Quarter Horse mare was presented for breeding management with shipped cooled semen and embryo transfer. Seven days post ovulation, a single late morula/early blastocyst was recovered and transferred immediately to a recipient mare. Thirty‐six days after transfer, transrectal ultrasound examination revealed the presence of 2 embryos. A transcutaneous reduction of one of the fetuses was performed successfully at 128 days of gestation. This report is the first to describe a successful reduction of monozygotic twins by transcutaneous ultrasound‐guided cardiac puncture.  相似文献   

19.
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20.
Two horses were admitted separately for evaluation and treatment of profound hyperchloremic metabolic acidosis without azotemia. One, an 11-year-old Quarter Horse mare, had been depressed and ataxic for 2 days. The other, a 2-year-old Quarter Horse colt, had a 6-week history of depression, anorexia, and weight loss. Both horses responded to fluid and electrolyte therapy, but required daily oral administration of sodium bicarbonate for maintenance. In each case, the diagnosis was renal tubular acidosis.  相似文献   

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