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Nora Gorla - One of the best experts on this subject based on the ideXlab platform.
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un caso de hermafroditismo verdadero 78 xx en una perra Weimaraner a case of true hermaphroditism 78 xx Weimaraner bitch
2011Co-Authors: L Martin, Aam Quero, Daniela Ferre, L Albarracin, Valentina Hynes, I B Larripa, Nora Gorla, Juan Agustin MazaAbstract:SUMMARY XX true hermaphroditism was identified in a 14 months Weimaraner female with a 3 cm radiopaque os clitoris analogue the male os penis, shown as a reddish structure protruding from the vulva. Giemsa metaphases revealed a normal female 78, XX chromosomal complement. The in situ fluorescence hybridization confirmed the presence of two X chromosome centromeric zones in each analyzed cell. The bitch presented a normal estrous cycle follow by pregnancy and delivery. The hystopathological findings of the dog confirmed hermaphroditism with bilateral ovotestis.
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un caso de hermafroditismo verdadero 78 xx en una perra Weimaraner
Archivos De Medicina Veterinaria, 2011Co-Authors: L Martin, Aam Quero, L Albarracin, I B Larripa, D M Ferre, Nora GorlaAbstract:Una perra Weimaraner con ambiguedad sexual al nacimiento fue diagnosticada como hermafrodita verdadera. A los 14 meses presentaba un agrandamiento del clitoris, una protuberancia rojiza que sobresalia 3 cm de la vulva, un os clitoris radioopaco analogo al os penis en los machos. Las metafases coloreadas con Giemsa revelaron una hembra normal con complemento cromosomico 78, XX. La hibridizacion in situ por fluorescencia confirmo la presencia de dos zonas centromericas del X en cada celula analizada. La perra presento un ciclo estral normal seguido de una prenez y paricion. Los hallazgos histopatologicos en la perra muestran ovotestis bilateral y confirman hermafroditismo verdadero
I B Larripa - One of the best experts on this subject based on the ideXlab platform.
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un caso de hermafroditismo verdadero 78 xx en una perra Weimaraner a case of true hermaphroditism 78 xx Weimaraner bitch
2011Co-Authors: L Martin, Aam Quero, Daniela Ferre, L Albarracin, Valentina Hynes, I B Larripa, Nora Gorla, Juan Agustin MazaAbstract:SUMMARY XX true hermaphroditism was identified in a 14 months Weimaraner female with a 3 cm radiopaque os clitoris analogue the male os penis, shown as a reddish structure protruding from the vulva. Giemsa metaphases revealed a normal female 78, XX chromosomal complement. The in situ fluorescence hybridization confirmed the presence of two X chromosome centromeric zones in each analyzed cell. The bitch presented a normal estrous cycle follow by pregnancy and delivery. The hystopathological findings of the dog confirmed hermaphroditism with bilateral ovotestis.
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un caso de hermafroditismo verdadero 78 xx en una perra Weimaraner
Archivos De Medicina Veterinaria, 2011Co-Authors: L Martin, Aam Quero, L Albarracin, I B Larripa, D M Ferre, Nora GorlaAbstract:Una perra Weimaraner con ambiguedad sexual al nacimiento fue diagnosticada como hermafrodita verdadera. A los 14 meses presentaba un agrandamiento del clitoris, una protuberancia rojiza que sobresalia 3 cm de la vulva, un os clitoris radioopaco analogo al os penis en los machos. Las metafases coloreadas con Giemsa revelaron una hembra normal con complemento cromosomico 78, XX. La hibridizacion in situ por fluorescencia confirmo la presencia de dos zonas centromericas del X en cada celula analizada. La perra presento un ciclo estral normal seguido de una prenez y paricion. Los hallazgos histopatologicos en la perra muestran ovotestis bilateral y confirman hermafroditismo verdadero
L Martin - One of the best experts on this subject based on the ideXlab platform.
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un caso de hermafroditismo verdadero 78 xx en una perra Weimaraner a case of true hermaphroditism 78 xx Weimaraner bitch
2011Co-Authors: L Martin, Aam Quero, Daniela Ferre, L Albarracin, Valentina Hynes, I B Larripa, Nora Gorla, Juan Agustin MazaAbstract:SUMMARY XX true hermaphroditism was identified in a 14 months Weimaraner female with a 3 cm radiopaque os clitoris analogue the male os penis, shown as a reddish structure protruding from the vulva. Giemsa metaphases revealed a normal female 78, XX chromosomal complement. The in situ fluorescence hybridization confirmed the presence of two X chromosome centromeric zones in each analyzed cell. The bitch presented a normal estrous cycle follow by pregnancy and delivery. The hystopathological findings of the dog confirmed hermaphroditism with bilateral ovotestis.
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un caso de hermafroditismo verdadero 78 xx en una perra Weimaraner
Archivos De Medicina Veterinaria, 2011Co-Authors: L Martin, Aam Quero, L Albarracin, I B Larripa, D M Ferre, Nora GorlaAbstract:Una perra Weimaraner con ambiguedad sexual al nacimiento fue diagnosticada como hermafrodita verdadera. A los 14 meses presentaba un agrandamiento del clitoris, una protuberancia rojiza que sobresalia 3 cm de la vulva, un os clitoris radioopaco analogo al os penis en los machos. Las metafases coloreadas con Giemsa revelaron una hembra normal con complemento cromosomico 78, XX. La hibridizacion in situ por fluorescencia confirmo la presencia de dos zonas centromericas del X en cada celula analizada. La perra presento un ciclo estral normal seguido de una prenez y paricion. Los hallazgos histopatologicos en la perra muestran ovotestis bilateral y confirman hermafroditismo verdadero
Noa Safra - One of the best experts on this subject based on the ideXlab platform.
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serum levels of innate immunity cytokines are elevated in dogs with metaphyseal osteopathy hypertrophic osteodytrophy during active disease and remission
Veterinary Immunology and Immunopathology, 2016Co-Authors: Noa Safra, Peta L Hitchens, Eric G Johnson, Emanual Michael Maverakis, Anupam Mitra, Courtney Korff, Amir Kol, Michael J Bannasch, Niels C PedersenAbstract:Metaphyseal osteopathy (MO) (hypertrophic osteodystrophy) is a developmental disorder of unexplained etiology affecting dogs during rapid growth. Affected dogs experience relapsing episodes of lytic/sclerotic metaphyseal lesions and systemic inflammation. MO is rare in the general dog population; however, some breeds (Weimaraner, Great Dane and Irish Setter) have a much higher incidence, supporting a hereditary etiology. Autoinflammatory childhood disorders of parallel presentation such as chronic recurrent multifocal osteomyelitis (CRMO), and deficiency of interleukin-1 receptor antagonist (DIRA), involve impaired innate immunity pathways and aberrant cytokine production. Given the similarities between these diseases, we hypothesize that MO is an autoinflammatory disease mediated by cytokines involved in innate immunity. To characterize immune dysregulation in MO dogs we measured serum levels of inflammatory markers in 26 MO and 102 control dogs. MO dogs had significantly higher levels (pg/ml) of serum Interleukin-1beta (IL-1β), IL-18, IL-6, Granulocyte-macrophage colony stimulating factor (GM-CSF), C-X-C motif chemokine 10 (CXCL10), tumor necrosis factor (TNF), and IL-10. Notably, recovered MO dogs were not different from dogs during active MO disease, providing a suggestive mechanism for disease predisposition. This is the first documentation of elevated immune markers in MO dogs, uncovering an immune profile similar to comparable autoinflammatory disorders in children.
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urate urolithiasis and hyperuricosuria in a Weimaraner secondary to the slc2a9 transporter defect
Veterinary Record Case Reports, 2014Co-Authors: Jodi L Westropp, Noa Safra, Eric G Johnson, Mark C Fuller, Danika L. BannaschAbstract:In this case, we describe a middle-aged, male Weimaraner that presented with upper and lower urinary tract urate urolithiasis. The dog required surgical intervention to remove the obstruction in the right ureter as well as medical management to prevent recurrent calculi. While the genetic defect that causes this disease in Dalmatians is well known among clinicians, this is the first clinical case documented in the Weimaraner breed. This dog shared the same SLC2A9 mutation as Dalmatians, which likely predisposed this dog to developing urate calculi. For dogs where urate uroliths are suspected on imaging studies, genetic testing may be warranted to help elucidate any predisposing factors for stone formation. Knowing the aetiology of the stone formation will alter the therapeutic approach for treatment and management.
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a mutation in the canine gene encoding folliculin interacting protein 2 fnip2 associated with a unique disruption in spinal cord myelination
Glia, 2014Co-Authors: Danika L. Bannasch, Noa Safra, Trevor J Pemberton, Sunju Choi, Joshua A Mayer, Nolan Gokey, John Svaren, Katrina Sullivan, B A BreuhausAbstract:Novel mutations in myelin and myelin-associated genes have provided important information on oligodendrocytes and myelin and the effects of their disruption on the normal developmental process of myelination of the central nervous system (CNS). We report here a mutation in the folliculin-interacting protein 2 (FNIP2) gene in the Weimaraner dog that results in hypomyelination of the brain and a tract-specific myelin defect in the spinal cord. This myelination disruption results in a notable tremor syndrome from which affected dogs recover with time. In the peripheral tracts of the lateral and ventral columns of the spinal cord, there is a lack of mature oligodendrocytes. A genome-wide association study of DNA from three groups of dogs mapped the gene to canine chromosome 15. Sequencing of all the genes in the candidate region identified a frameshift mutation in the FNIP2 gene that segregated with the phenotype. While the functional role of FNIP2 is not known, our data would suggest that production of truncated protein results in a delay or failure of maturation of a subpopulation of oligodendrocytes.
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genome wide association mapping in dogs enables identification of the homeobox gene nkx2 8 as a genetic component of neural tube defects in humans
PLOS Genetics, 2013Co-Authors: Noa Safra, Alexander G Bassuk, Polly J Ferguson, Miriam Aguilar, Rochelle L Coulson, Nicholas Thomas, Peta L Hitchens, Peter J Dickinson, Karen M Vernau, Zena T WolfAbstract:: Neural tube defects (NTDs) is a general term for central nervous system malformations secondary to a failure of closure or development of the neural tube. The resulting pathologies may involve the brain, spinal cord and/or vertebral column, in addition to associated structures such as soft tissue or skin. The condition is reported among the more common birth defects in humans, leading to significant infant morbidity and mortality. The etiology remains poorly understood but genetic, nutritional, environmental factors, or a combination of these, are known to play a role in the development of NTDs. The variable conditions associated with NTDs occur naturally in dogs, and have been previously reported in the Weimaraner breed. Taking advantage of the strong linkage-disequilibrium within dog breeds we performed genome-wide association analysis and mapped a genomic region for spinal dysraphism, a presumed NTD, using 4 affected and 96 unaffected Weimaraners. The associated region on canine chromosome 8 (pgenome =3.0 × 10(-5)), after 100,000 permutations, encodes 18 genes, including NKX2-8, a homeobox gene which is expressed in the developing neural tube. Sequencing NKX2-8 in affected Weimaraners revealed a G to AA frameshift mutation within exon 2 of the gene, resulting in a premature stop codon that is predicted to produce a truncated protein. The exons of NKX2-8 were sequenced in human patients with spina bifida and rare variants (rs61755040 and rs10135525) were found to be significantly over-represented (p=0.036). This is the first documentation of a potential role for NKX2-8 in the etiology of NTDs, made possible by investigating the molecular basis of naturally occurring mutations in dogs.
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clinical manifestations response to treatment and clinical outcome for Weimaraners with hypertrophic osteodystrophy 53 cases 2009 2011
Javma-journal of The American Veterinary Medical Association, 2013Co-Authors: Noa Safra, Nili Karmi, Miriam Aguilar, Zena T Wolf, Eric G Johnson, Oded Foreman, Carrie J Finno, Danika L. BannaschAbstract:Objective—To evaluate clinical manifestations, response to treatment, and outcome for Weimaraners with hypertrophic osteodystrophy (HOD). Design—Retrospective case series. Animals—53 dogs. Procedures—Medical records were reviewed for signalment, vaccination history, clinical signs, laboratory test results, response to treatment, and relapses. Radiographs were reviewed. Results—Clinical signs included pyrexia, lethargy, and ostealgia; signs involving the gastrointestinal, ocular, or cutaneous systems were detected. Of the 53 dogs, 28 (52.8%) had HOD-affected littermates. Dogs with HOD-affected littermates were more likely to relapse, compared with the likelihood of relapse for dogs with no HOD-affected littermates. All 53 dogs had been vaccinated 1 to 30 days before HOD onset; no difference was found between the number of dogs with a history of vaccination with a recombinant vaccine (n … 21) versus a nonrecombinant vaccine (32). Fifty (94.3%) dogs had radiographic lesions compatible with HOD at disease ons...
Lawrence T. Glickman - One of the best experts on this subject based on the ideXlab platform.
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benefits of prophylactic gastropexy for dogs at risk of gastric dilatation volvulus
Preventive Veterinary Medicine, 2003Co-Authors: Michael P. Ward, Gary J. Patronek, Lawrence T. GlickmanAbstract:Abstract The lifetime probability of death from gastric dilation–volvulus (GDV) for five dog breeds was estimated based on published breed-specific longevity and GDV incidence. These breeds were Great Dane, Irish Setter, Rottweiler, Standard Poodle and Weimaraner. Lifetime risk (95% CI) of GDV in these breeds ranged from 3.9% (0–11.2%) for Rottweiler to 36.7% (25.2–44.6%) for Great Dane. A decision-tree analysis for prophylactic gastropexy—using lifetime probability of death from GDV and expected cost savings for veterinary services as outcome measures—was undertaken to determine the preferred course of action in several dog breeds. Prophylactic gastropexy was the preferred choice of action for all breeds examined, with the reduction in mortality (versus no gastropexy) ranging from 2.2-fold (Rottweiler) to 29.6-fold (Great Dane). Assuming a prophylactic gastropexy costs US$ 400, the procedure was cost-effective when the lifetime risk of GDV was ≥34%. The maximum and minimum estimated breakeven costs for the gastopexy procedure ranged from US$ 20 (Rottweiler) to US$ 435 (Great Dane). The cost-effectiveness of prophylactic gastropexy was most sensitive to the cost of treating GDV (US$ 1500). Prophylactic gastropexy raises ethical issues that need to be considered by veterinarians and dog breeders.
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Incidence of and breed-related risk factors for gastric dilatation-volvulus in dogs.
Journal of the American Veterinary Medical Association, 2000Co-Authors: Lawrence T. Glickman, Db Schellenberg, Nita W. Glickman, Malathi Raghavan, Tana L. LeeAbstract:Objective—To compare incidence of and breed-related risk factors for gastric dilatation-volvulus (GDV) among 11 dog breeds (Akita, Bloodhound, Collie, Great Dane, Irish Setter, Irish Wolfhound, Newfoundland, Rottweiler, Saint Bernard, Standard Poodle, and Weimaraner). Design—Prospective cohort study. Animals—1,914 dogs. Procedure—Owners of dogs that did not have a history of GDV were recruited at dog shows, and the dog's length and height and depth and width of the thorax and abdomen were measured. Information concerning the dogs' medical history, genetic background, personality, and diet was obtained from owners, and owners were contacted by mail and telephone at approximately 1-year intervals to determine whether dogs had developed GDV or died. Incidence of GDV based on the number of dog-years at risk was calculated for each breed, and breed-related risk factors were identified. Results and Clinical Relevance—Incidence of GDV for the 7 large (23 to 45 kg [50 to 99 lb]) and 4 giant (> 45 kg [> 99 lb]) br...
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analysis of risk factors for gastric dilatation and dilatation volvulus in dogs
Javma-journal of The American Veterinary Medical Association, 1994Co-Authors: Lawrence T. Glickman, Db Schellenberg, Nita W. Glickman, C M Perez, Gary C LantzAbstract:The Veterinary Medical Data Base was usd to conduct an epidemiologic study of gastric dilatation and dilatation-volvulus (GDV) to describe changes over time in frequency of canine hospital admissions, to identify risk factors, and to estimate their relative importance. Cases in this case-control study included 1,934 dogs with GDV that were admitted to 12 participating veterinary hospitals from 1980 to 1989. The controls were 3,868 dogs with other diagnoses that were randomly selected from the same hospitals. Frequency of GDV per 1,000 canine hospital admissions ranged from 2.9 to 6.8. The case fatality rate was 28.6 and 33.3% for gastric dilatation alone and for gastric dilatation with volvulus, respectively. Using logistic regression analysis, the odds ratio (OR) and its 95% confidence limits (95% CL) for GDV associated with purebred vs mixed-breed dogs were 2.5 and 2.1, 3.0, respectively. The risk of GDV was associated with increasing age (chi 2 = 305.6, P < 0.0001) and increasing weight (chi 2 = 627.8, P < 0.0001). Significant association of GDV risk with sex or neuter status was not found. The 5 breeds having at least 10 cases and 8 controls and with the highest risk of GDV were Great Dane (OR, 10.0; 95% CL, 6.4, 15.6), Weimaraner (OR, 4.6; 95% CL, 2.3, 9.2), Saint Bernard (OR, 4.2; 95% CL, 2.3, 7.4), Gordon Setter (OR, 4.1; 95% CL, 1.8, 9.3), and Irish Setter (OR, 3.5; 95% CL, 2.4, 5.0). The effect of increasing body weight on GDV risk was less than that of increasing ideal adult breed weight, determined by published breed standards.(ABSTRACT TRUNCATED AT 250 WORDS)
