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1.
Hum Genet ; 142(11): 1587-1601, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37758910

RESUMEN

ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) is a human neurological disorder characterized by progressive cerebellar ataxia and peripheral neuropathy. A recently recognized disorder in Great Pyrenees dogs is similarly characterized by widespread central nervous system degeneration leading to progressive cerebellar ataxia and spasticity, combined with peripheral neuropathy. Onset of clinical signs occurred in puppies as young as 4 months of age, with slow progression over several years. A multi-generation pedigree suggested an autosomal recessive mode of inheritance. Histopathology revealed consistent cerebellar Purkinje cell degeneration, neuronal degeneration in brainstem nuclei, widespread spinal cord white matter degeneration, ganglion cell degeneration, inappropriately thin myelin sheaths or fully demyelinated peripheral nerve fibers, and normal or only mild patterns of denervation atrophy in skeletal muscles. Genome-wide single nucleotide polymorphism (SNP) genotype data was collected from 6 cases and 26 controls, where homozygosity mapping identified a 3.3 Mb region on CFA25 in which all cases were homozygous and all controls were either heterozygous or homozygous for alternate haplotypes. This region tagged the SACS gene where variants are known to cause ARSACS. Sanger sequencing of SACS in affected dogs identified a 4 bp deletion that causes a frame shift and truncates 343 amino acids from the C terminus of the encoded sacsin protein (p.Val4244AlafsTer32). Our clinical and histopathological descriptions of this canine disorder contribute to the description of human ARSACS and represents the first naturally occurring large animal model of this disorder.


Asunto(s)
Ataxia Cerebelosa , Enfermedades del Sistema Nervioso Periférico , Ataxias Espinocerebelosas , Animales , Perros , Proteínas de Choque Térmico/genética , Mutación , Ataxias Espinocerebelosas/genética , Ataxias Espinocerebelosas/patología
2.
Genes (Basel) ; 12(12)2021 11 29.
Artículo en Inglés | MEDLINE | ID: mdl-34946876

RESUMEN

An episodic nervous system disorder triggered by strenuous exercise, termed border collie collapse (BCC), exists in border collies and related breeds. The genetic basis of BCC is unknown but is believed to be a complex genetic disorder. Our goal was to estimate the heritability (h2SNP) of BCC, define its underlying genetic architecture, and identify associated genomic loci using dense whole-genome single-nucleotide polymorphism (SNP) genotyping data. Genotype data were obtained for ~440,000 SNPs from 343 border collies (168 BCC cases and 175 controls). h2SNP was calculated to be 49-61% depending on the estimated BCC prevalence. A total of 2407 SNPs across the genome accounted for nearly all the h2SNP of BCC, with an estimated 2003 SNPs of small effect, 349 SNPs of moderate effect, and 56 SNPs of large effect. Genome-wide association analyses identified significantly associated loci on chromosomes 1, 6, 11, 20, and 28, which accounted for ~5% of the total BCC h2SNP. We conclude that BCC is a moderately- to highly-heritable complex polygenetic disease resulting from contributions from hundreds to thousands of genetic variants with variable effect sizes. Understanding how much the BCC phenotype is determined by genetics and whether major gene mutations are likely to exist inform veterinarians and working/stock dog communities of the true nature of this condition.


Asunto(s)
Enfermedades de los Perros/genética , Patrón de Herencia , Enfermedades del Sistema Nervioso/veterinaria , Esfuerzo Físico , Animales , Ataxia/genética , Ataxia/fisiopatología , Ataxia/veterinaria , Enfermedades de los Perros/fisiopatología , Perros , Femenino , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo/veterinaria , Genotipo , Cojera Animal/genética , Cojera Animal/fisiopatología , Masculino , Enfermedades del Sistema Nervioso/genética , Enfermedades del Sistema Nervioso/fisiopatología , Polimorfismo de Nucleótido Simple
3.
RSC Adv ; 10(34): 19982-19996, 2020 May 26.
Artículo en Inglés | MEDLINE | ID: mdl-35520426

RESUMEN

A simple, modified Metal-Organic Chemical Deposition (MOCD) method for Pt, PtRu and PtCo nanoparticle deposition onto a variety of support materials, including C, SiC, B4C, LaB6, TiB2, TiN and a ceramic/carbon nanofiber, is described. Pt deposition using Pt(acac)2 as a precursor is shown to occur via a mixed solid/liquid/vapour precursor phase which results in a high Pt yield of 90-92% on the support material. Pt and Pt alloy nanoparticles range 1.5-6.2 nm, and are well dispersed on all support materials, in a one-step method, with a total catalyst preparation time of ∼10 hours (2.4-4× quicker than conventional methods). The MOCD preparation method includes moderate temperatures of 350 °C in a tubular furnace with an inert gas supply at 2 bar, a high pressure (2-4 bar) compared to typical MOCVD methods (∼0.02-10 mbar). Pt/C catalysts with Pt loadings of 20, 40 and 60 wt% were synthesised, physically characterised, electrochemically characterised and compared to commercial Pt/C catalysts. TEM, XRD and ex situ EXAFS show similar Pt particle sizes and Pt particle shape identifiers, namely the ratio of the third to first Pt coordination numbers modelled from ex situ EXAFS, between the MOCD prepared catalysts and commercial catalysts. Moreover, electrochemical characterisation of the Pt/C MOCD catalysts obtained ORR mass activities with a maximum of 428 A gPt -1 at 0.9 V, which has similar mass activities to the commercial catalysts (80-160% compared to the commercial Pt/C catalysts).

4.
J Vet Emerg Crit Care (San Antonio) ; 29(5): 542-548, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31448525

RESUMEN

OBJECTIVE: To describe the successful management of a dog following a period of prolonged food deprivation. CASE SUMMARY: A 7-year-old, intact male Labrador Retriever presented with profound weakness and loss of nearly 50% of his body weight due to severe prolonged starvation after being trapped in a well for 27 days. Electrolyte concentrations were managed with intensive intravenous supplementation during refeeding. The dog's electrolyte abnormalities resolved, wounds healed, and strength returned during the first 3 weeks of treatment. During the next 3 months, body condition score normalized and muscle mass improved. NEW OR UNIQUE INFORMATION PROVIDED: This report describes the management of a severely malnourished dog during refeeding, and highlights treatment considerations that may be important in the prevention of refeeding syndrome in such cases.


Asunto(s)
Enfermedades de los Perros/diagnóstico , Electrólitos/uso terapéutico , Síndrome de Realimentación/veterinaria , Inanición/veterinaria , Administración Intravenosa/veterinaria , Animales , Enfermedades de los Perros/sangre , Enfermedades de los Perros/terapia , Perros , Electrólitos/administración & dosificación , Masculino , Síndrome de Realimentación/diagnóstico , Síndrome de Realimentación/terapia , Inanición/diagnóstico , Inanición/terapia
5.
Can Vet J ; 59(10): 1109-1111, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-30510318

RESUMEN

Whole blood samples were collected from 515 dogs in the practice region surrounding Saskatoon, Saskatchewan, Canada between 2008 and 2010 and evaluated for seroprevalence of vector-borne diseases. Of 515 samples, 12 (2.3%) were positive, with 7 (1.4%) positive for antibodies to Borrelia burgdorferi. These prevalences are higher than those previously reported for this region.


Enquête sérologique des maladies canines à transmission vectorielle en Saskatchewan, au Canada. Des échantillons de sang total ont été prélevés auprès de 515 chiens dans des établissements vétérinaires des environs de Saskatoon, en Saskatchewan, au Canada, entre 2008 et 2010, et ont été évalués pour la séroprévalence des maladies à transmission vectorielle. Parmi les 515 échantillons, 12 (2,3 %) étaient positifs et 7 (1,4 %) étaient positifs pour les anticorps contre Borrelia burgdorferi. Ces prévalences sont supérieures à celles précédemment signalées pour cette région.(Traduit par Isabelle Vallières).


Asunto(s)
Enfermedades de los Perros/epidemiología , Enfermedad de Lyme/veterinaria , Estudios Seroepidemiológicos , Anaplasma phagocytophilum/inmunología , Anaplasma phagocytophilum/aislamiento & purificación , Anaplasmosis/epidemiología , Animales , Anticuerpos Antibacterianos/sangre , Borrelia burgdorferi/inmunología , Borrelia burgdorferi/aislamiento & purificación , Enfermedades de los Perros/inmunología , Enfermedades de los Perros/microbiología , Perros , Ehrlichia canis/inmunología , Ehrlichia canis/aislamiento & purificación , Ehrlichiosis/epidemiología , Ehrlichiosis/veterinaria , Enfermedad de Lyme/epidemiología , Saskatchewan/epidemiología
6.
J Feline Med Surg ; 20(9): 825-834, 2018 09.
Artículo en Inglés | MEDLINE | ID: mdl-30139319

RESUMEN

Practical relevance: Seizures are one of the most common neurological problems recognized in cats, affecting approximately 1-3% of the general population. Treatment options and prognosis are closely related to the underlying cause, so it is important that veterinarians are familiar with the diagnostic approach to cats with seizures and options for medical management. Series outline: This is the second of a two-part article series that reviews the diagnosis and treatment of seizures in cats. Part 2 describes chronic medical treatment options and prognosis for cats with recurrent seizures, and acute treatment of status epilepticus. AUDIENCE: This review of recurrent seizures in cats is intended for all veterinarians who are facing the challenges of seizure diagnosis and management in the feline patient. Evidence base: Recommendations for diagnosis and management of feline seizure disorders have historically been extrapolated from the canine and human literature. The information and guidance provided in this two-part series is based on a review of the recent published literature addressing seizure disorders and antiepileptic treatment in cats, as well as the authors' clinical experience.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Enfermedades de los Gatos/tratamiento farmacológico , Convulsiones/tratamiento farmacológico , Animales , Gatos , Convulsiones/veterinaria
7.
J Feline Med Surg ; 20(9): 811-823, 2018 09.
Artículo en Inglés | MEDLINE | ID: mdl-30139320

RESUMEN

Practical relevance: Seizures are one of the most common neurologic problems recognized in cats, affecting approximately 1-3% of the general population. Treatment options and prognosis are closely related to the underlying cause, so it is important that veterinarians are familiar with the diagnostic approach to cats with seizures and options for medical management. Series outline: This is the first of a two-part article series that reviews the diagnosis and treatment of seizures in cats. Part 1 outlines the classification and terminology used to describe epilepsy and epileptic seizures in cats, and discusses some of the most common and unique causes of recurrent seizures in cats. The diagnostic approach to cats with recurrent seizures is addressed, as are criteria for the diagnosis of idiopathic epilepsy. AUDIENCE: This review of recurrent seizures in cats is intended for all veterinarians who are facing the challenges of seizure diagnosis and management in the feline patient. Evidence base: Recommendations for diagnosis and management of feline seizure disorders have historically been extrapolated from the canine and human literature. The information and guidance provided in this two-part series is based on a review of the recent published literature addressing seizure disorders and antiepileptic treatment in cats, as well as the authors' clinical experience.


Asunto(s)
Enfermedades de los Gatos , Epilepsia , Animales , Anticonvulsivantes/uso terapéutico , Enfermedades de los Gatos/diagnóstico , Enfermedades de los Gatos/tratamiento farmacológico , Gatos , Diagnóstico Diferencial , Epilepsia/diagnóstico , Epilepsia/tratamiento farmacológico , Epilepsia/veterinaria , Pronóstico , Veterinarios
8.
Can Vet J ; 59(7): 791-795, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-30026629

RESUMEN

Laryngeal function is assessed by direct visualization of the larynx under a light plane of anesthesia. This study compared the effects of 3 anesthetic protocols on arytenoid motion in healthy dogs. Eight dogs were randomly assigned to receive alfaxalone, propofol and diazepam, or thiopental. Videolaryngoscopy was performed and still images at maximum inspiration and expiration were used to measure the area and height of the glottal gap. The normalized glottal gap area (NGGA = area in pixels/height2) was calculated. The NGAA change was defined as the difference between NGAA during inspiration and exhalation. Data were analyzed using Mann-Whitney and Kruskal-Wallis tests, P-values < 0.05 were considered statistically significant. No significant difference among induction protocols was found when comparing NGGA change after induction or before recovery. Alfaxalone and propofol/diazepam are useful for evaluation of laryngeal function when administered to effect and a light plane of anesthesia is maintained.


Effets de l'alfaxalone, du thiopental ou du propofol et du diazépam sur le mouvement du larynx chez des chiens en santé. La fonction du larynx est évaluée par visualisation directe du larynx sous une légère anesthésie. Cette étude a comparé les effets de trois protocoles anesthésiques sur le mouvement aryténoïde chez des chiens en santé. Huit chiens ont été assignés au hasard pour recevoir de l'alfaxalone, du propofol et du diazépam ou du thiopental. Une vidéo-laryngoscopie a été réalisée et des images fixes à l'inspiration et à l'expiration maximales ont été utilisées pour mesurer la région et la hauteur de l'écart glottal. La région normalisée de l'écart glottal (RNEG = région en pixels/hauteur2) a été calculée. Le changement RNEG a été défini comme la différence entre le RNEG durant l'inspiration et l'expiration. Les données ont été analysées en utilisant les tests de Mann-Whitney et Kruskal-Wallis, les valeurs-P < 0,05 étaient considérées comme étant significatives sur le plan statistique. Aucune différence significative n'a été trouvée parmi les protocoles d'induction lors de la comparaison du changement RNEG après l'induction ou le réveil. L'alfaxalone et le propofol/diazépam sont utiles pour l'évaluation de la fonction du larynx lorsqu'ils sont administrés jusqu'à l'effet et qu'une légère anesthésie est maintenue.(Traduit par Isabelle Vallières).


Asunto(s)
Anestesia General/veterinaria , Anestésicos/administración & dosificación , Cartílago Aritenoides/efectos de los fármacos , Perros , Animales , Cartílago Aritenoides/fisiología , Diazepam/administración & dosificación , Combinación de Medicamentos , Laringoscopía/veterinaria , Pregnanodionas/administración & dosificación , Propofol/administración & dosificación , Tiopental/administración & dosificación , Grabación en Video/métodos
9.
Vector Borne Zoonotic Dis ; 15(12): 755-8, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26645738

RESUMEN

Serum samples collected from 143 dogs from Saskatchewan, Canada, between 2008 and 2010 were evaluated for seroprevalence of West Nile virus (WNV). WNV antibodies were identified in 40/143 dogs (28%). Dogs that were primarily housed in the yard were 6.2 times (95% confidence interval [CI] 2.6-14.5) more likely to have antibodies than dogs housed in the house or garage. Dogs were more likely to be positive with increasing time spent outside. The results of this study document WNV seroprevalence in dogs from Saskatchewan and suggest that pet dogs might be useful as a sentinel species for WNV surveillance.


Asunto(s)
Anticuerpos Antivirales/sangre , Enfermedades de los Perros/epidemiología , Fiebre del Nilo Occidental/veterinaria , Virus del Nilo Occidental/inmunología , Animales , Enfermedades de los Perros/virología , Perros , Mascotas , Factores de Riesgo , Saskatchewan/epidemiología , Estudios Seroepidemiológicos , Encuestas y Cuestionarios , Fiebre del Nilo Occidental/epidemiología , Fiebre del Nilo Occidental/virología , Virus del Nilo Occidental/aislamiento & purificación
10.
Vet Clin Pathol ; 44(1): 26-36, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25488123

RESUMEN

BACKGROUND: An increasing prevalence of reticulocytosis in the absence of anemia (RAA) in dogs has been suspected in recent years. OBJECTIVES: The objectives were to determine whether prevalence of RAA in our canine population has been increasing over the last years, and to identify potential predisposing factors. METHODS: The annual prevalence of RAA in adult dogs was determined between 2000 and 2012. Clinical histories and CBC data were analyzed for all dogs, as well as owner response to a questionnaire including information on nutrition and supplements was conducted for dogs with RAA identified between 2011 and 2012. In addition, serum iron concentration (Fe), total iron-binding capacity (TIBC), and percent transferrin saturation (%TS) were determined in 14 dogs with RAA and compared with 8 healthy control dogs. RESULTS: Reticulocytosis in the absence of anemia was identified in 1035 dogs, with the prevalence increasing since 2006. Dogs with RAA evaluated after 2006 (n = 853) had significantly lower MCV and were more likely to have microcytosis than those prior to 2006 (n = 182). Increased incidence of osteoarthritis was observed in dogs evaluated after 2006, including the dogs studied between 2011 and 2012 (n = 31), and administration of nonsteroidal anti-inflammatory drugs, omega-3 fatty acids, and glucosamine was more common in the latter. Significantly lower mean Fe and %TS, and higher TIBC were found in dogs with RAA compared to unaffected dogs. CONCLUSIONS: Prevalence of RAA has increased in recent years in our canine population. More ubiquitous use of anti-inflammatory medications and nutraceuticals, associated with increased diagnosis of osteoarthritis should be considered as contributing factors.


Asunto(s)
Hierro/sangre , Osteoartritis/complicaciones , Reticulocitosis , Anemia/veterinaria , Animales , Antiinflamatorios/efectos adversos , Perros , Femenino , Masculino , Prevalencia , Estudios Retrospectivos , Factores de Riesgo
11.
Can Vet J ; 55(10): 939-45, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25320380

RESUMEN

This study evaluated the CorTemp(®) ingestible telemetric core body temperature sensor in dogs, to establish the relationship between rectal temperature and telemetrically measured core body temperature at rest and during exercise, and to examine the effect of sensor location in the gastrointestinal (GI) tract on measured core temperature. CorTemp(®) sensors were administered orally to fasted Labrador retriever dogs and radiographs were taken to document sensor location. Core and rectal temperatures were monitored throughout the day in 6 resting dogs and during a 10-minute strenuous retrieving exercise in 6 dogs. Time required for the sensor to leave the stomach (120 to 610 min) was variable. Measured core temperature was consistently higher than rectal temperature across all GI locations but temperature differences based on GI location were not significant (P = 0.5218). Resting dogs had a core temperature that was on average 0.4°C above their rectal temperature with 95% limits of agreement (LoA) between 1.2°C and -0.5°C. Core temperature in exercising dogs was on average 0.3°C higher than their concurrent rectal temperature, with LoA of +1.6°C and -1.1°C.


Comparaison entre les températures centrales mesurées par télémétrie à l'aide de la sonde de température ingérable CorTempMDet la température rectale chez des chiens Labrador retriever en santé. Cette étude a évalué la télémétrie de la sonde de température centrale ingérable CorTempMD chez les chiens afin d'établir un lien entre la température rectale et la température centrale mesurée par télémétrie au repos et à l'effort et pour examiner l'effet de l'emplacement de la sonde dans le tube digestif sur la mesure de la température centrale. Des sondes CorTempMD ont été administrées oralement à des chiens Labrador retriever à jeun et des radiographies ont été prises pour documenter l'emplacement de la sonde. Les températures centrale et rectale ont été surveillées pendant la journée chez 6 chiens au repos et durant une séance vigoureuse de «rapporter¼ de 10 minutes chez 6 chiens. Le temps requis pour le passage dans l'estomac de la sonde a été variable (de 120 à 610 minutes). La température centrale mesurée a été constamment supérieure à la température rectale dans tous les emplacements du tube digestif, mais les différences de température basées sur l'emplacement dans le tube digestif n'étaient pas significatives (P = 0,5218). Les chiens au repos avaient une température centrale qui était en moyenne de 0,4 °C supérieure à la température rectale avec des limites de concordance de 95 % entre 1,2 °C et −0,5 °C. La température centrale des chiens à l'exercice était en moyenne de 0,3 °C supérieure à leur température concomitante, avec des limites de concordance de +1,6 °C et de −1,1 °C.(Traduit par Isabelle Vallières).


Asunto(s)
Temperatura Corporal/fisiología , Perros/fisiología , Telemetría/veterinaria , Termómetros/veterinaria , Animales , Humanos , Acondicionamiento Físico Humano/fisiología , Recto
12.
J Am Vet Med Assoc ; 242(6): 786-91, 2013 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-23445289

RESUMEN

OBJECTIVE: To identify characteristics of exercise-induced collapse in Labrador Retrievers and compare characteristics for dogs with various dynamin 1 gene (DNM1) mutation statuses. DESIGN: Retrospective cross-sectional study. ANIMALS: 109 Labrador Retrievers with a history of recurrent exercise-induced collapse, clinically normal behavior and gait between episodes, and no reason for collapse identified via medical evaluation. PROCEDURES: Data were collected via surveys from owners of dogs that were tested for an autosomal recessive DNM1 mutation causing DNM1-associated exercise-induced collapse (d-EIC). Dogs were identified as having d-EIC (homozygous for the mutation) or not having d-EIC (heterozygous for or without the mutation). Survey data were reviewed by an investigator unaware of the genotypes of dogs, and collapse characteristics were compared between groups. RESULTS: 74 dogs had d-EIC; 35 dogs did not have d-EIC. Dogs with d-EIC were young (median age, 12 months) at the time of the first collapse episode; collapse in such dogs typically originated in the hind limbs and was characterized by low muscle tone, clinically normal mentation, and rapid recovery. Dogs without d-EIC were older (median age, 23 months) than dogs with d-EIC; such dogs had various characteristics of collapse that were not consistent with a single disease. CONCLUSIONS AND CLINICAL RELEVANCE: Characteristics of exercised-induced collapse in Labrador Retrievers with various DNM1 genotypes were identified in this study; findings may help distinguish dogs with d-EIC from those with other types of collapse conditions. Characteristics of collapse in Labrador Retrievers that were not homozygous for the DNM1 mutation differed substantially among dogs and may have been attributable to multiple causes.


Asunto(s)
Enfermedades de los Perros/genética , Dinamina I/metabolismo , Condicionamiento Físico Animal/efectos adversos , Animales , Estudios Transversales , Enfermedades de los Perros/patología , Perros , Dinamina I/genética , Femenino , Regulación de la Expresión Génica/fisiología , Predisposición Genética a la Enfermedad , Masculino , Mutación , Sensibilidad y Especificidad
13.
J Feline Med Surg ; 14(10): 701-5, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22577050

RESUMEN

This study evaluated the effects of an anesthetic protocol using intravenous ketamine and midazolam, and intramuscular buprenorphine on hematologic variables in cats. Twelve healthy adult cats had blood collected for a complete blood count before and after the induction of anesthesia. There were significant decreases in red blood cell counts, hemoglobin concentrations and hematocrits after the induction of anesthesia. On average, red blood cell counts and hematocrits decreased by 25%, and hemoglobin concentrations decreased by 24%. Based on hematocrit, 3/12 samples (25%) taken while the cats were anesthetized would have been interpreted as belonging to anemic patients while none of the cats would have been considered anemic before anesthesia. This study suggests that a complete blood count performed on blood taken under anesthesia with this anesthetic protocol should be interpreted cautiously in order to not make a false diagnosis of anemia.


Asunto(s)
Anestesia General/veterinaria , Anestesia Intravenosa/veterinaria , Anestésicos Combinados/administración & dosificación , Anestésicos Intravenosos/administración & dosificación , Gatos/fisiología , Hematócrito/veterinaria , Animales , Buprenorfina/administración & dosificación , Hemodinámica/efectos de los fármacos , Ketamina/administración & dosificación , Midazolam/administración & dosificación , Valores de Referencia
14.
Vet J ; 189(2): 214-9, 2011 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-21782486

RESUMEN

The impact of the mutation causing dynamin 1 (DNM1)-associated exercise-induced collapse (d-EIC) was determined in a retrospective genetic survey. The frequency of DNM1 mutant allele carriers in Labrador retrievers from conformation show, field trial/hunt test, pet or service lines ranged from 17.9% to 38.0% and the frequency of homozygous mutant (EE genotype) individuals ranged from 1.8% to 13.6%; 83.6% of these EE Labradors were reported to have collapsed by 4 years of age. DNM1 mutation carriers and EE dogs with a collapse phenotype were also detected in Chesapeake Bay retrievers, Curly-coated retrievers, Boykin spaniels, Pembroke Welsh corgis and mixed breed dogs thought to be Labrador retriever crosses. The DNM1 mutation was not identified in Golden, Flat-coated, or Nova Scotia duck tolling retrievers, or 15 other non-retrieving breeds. Veterinarians and breeders should be aware that the DNM1 EE genotype is not completely penetrant and that d-EIC is a widespread health concern in several very popular breeds, as well as breeds whose genetic similarity to retrievers is not obvious.


Asunto(s)
Enfermedades de los Perros/genética , Dinamina I/genética , Debilidad Muscular/veterinaria , Mutación , Condicionamiento Físico Animal/efectos adversos , Animales , Canadá/epidemiología , Enfermedades de los Perros/epidemiología , Enfermedades de los Perros/patología , Perros , Frecuencia de los Genes , Debilidad Muscular/epidemiología , Debilidad Muscular/genética , Debilidad Muscular/fisiopatología , Linaje , Fenotipo , Estudios Retrospectivos , Especificidad de la Especie , Estados Unidos/epidemiología
15.
Eur J Hum Genet ; 19(6): 727-31, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21448237

RESUMEN

Individuals with autism are more likely to carry rare inherited and de novo copy number variants (CNVs). However, further research is needed to establish which CNVs are causal and the mechanisms by which these CNVs influence autism. We examined genomic DNA of children with autism (N = 41) and healthy controls (N = 367) for rare CNVs using a high-resolution array comparative genomic hybridization platform. We show that individuals with autism are more likely to harbor rare CNVs as small as ∼ 10 kb, a threshold not previously detectable, and that CNVs in cases disproportionately affect genes involved in transcription, nervous system development, and receptor activity. We also show that a subset of genes that have known or suspected allele-specific or imprinting effects and are within rare-case CNVs may undergo loss of transcript expression. In particular, expression of CNTNAP2 and ZNF214 are decreased in probands compared with their unaffected transmitting parents. Furthermore, expression of PRODH and ARID1B, two genes affected by de novo CNVs, are decreased in probands compared with controls. These results suggest that for some genes affected by CNVs in autism, reduced transcript expression may be a mechanism of pathogenesis during neurodevelopment.


Asunto(s)
Trastorno Autístico/genética , Dosificación de Gen , Regulación del Desarrollo de la Expresión Génica , ARN Mensajero/análisis , Estudios de Casos y Controles , Niño , Hibridación Genómica Comparativa , Proteínas de Unión al ADN/genética , Proteínas de Unión al ADN/metabolismo , Genoma Humano , Humanos , Proteínas de la Membrana/genética , Proteínas de la Membrana/metabolismo , Proteínas del Tejido Nervioso/genética , Proteínas del Tejido Nervioso/metabolismo , Prolina Oxidasa/genética , Prolina Oxidasa/metabolismo , ARN Mensajero/biosíntesis , Factores de Transcripción/genética , Factores de Transcripción/metabolismo , Transcripción Genética
16.
Can Vet J ; 51(9): 1003-6, 2010 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21119868

RESUMEN

Two clinical cases of accidental entrapment of cats in front-loading washing machines are described. One cat died the day after presentation as a result of aspiration pneumonia and head trauma, despite supportive care. The second cat survived with supportive treatment, but developed dermatologic complications 10 d later.


Asunto(s)
Accidentes Domésticos , Gatos/lesiones , Heridas y Lesiones/veterinaria , Animales , Traumatismos Craneocerebrales/etiología , Traumatismos Craneocerebrales/veterinaria , Resultado Fatal , Femenino , Heridas y Lesiones/etiología
17.
J Feline Med Surg ; 12(10): 811-3, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20817586

RESUMEN

A 3-year-old, male castrated domestic shorthair cat presented for sudden onset of severe lethargy and loss of balance a few hours after potentially ingesting capsules containing progesterone. Elevated serum progesterone was confirmed. Supportive care and time resulted in complete resolution of the clinical signs with no long-term complications or recurrence of clinical signs noticed after 1-month follow-up. This is the first description of progesterone intoxication inducing neurological signs in a cat.


Asunto(s)
Enfermedades de los Gatos/inducido químicamente , Letargia/veterinaria , Progesterona/envenenamiento , Animales , Enfermedades de los Gatos/terapia , Gatos , Estudios de Seguimiento , Letargia/inducido químicamente , Masculino , Equilibrio Postural/efectos de los fármacos , Resultado del Tratamiento
18.
Proc Natl Acad Sci U S A ; 107(33): 14697-702, 2010 Aug 17.
Artículo en Inglés | MEDLINE | ID: mdl-20682747

RESUMEN

Mutations in the MTM1 gene encoding myotubularin cause X-linked myotubular myopathy (XLMTM), a well-defined subtype of human centronuclear myopathy. Seven male Labrador Retrievers, age 14-26 wk, were clinically evaluated for generalized weakness and muscle atrophy. Muscle biopsies showed variability in fiber size, centrally placed nuclei resembling fetal myotubes, and subsarcolemmal ringed and central dense areas highlighted with mitochondrial specific reactions. Ultrastructural studies confirmed the centrally located nuclei, abnormal perinuclear structure, and mitochondrial accumulations. Wild-type triads were infrequent, with most exhibiting an abnormal orientation of T tubules. MTM1 gene sequencing revealed a unique exon 7 variant in all seven affected males, causing a nonconservative missense change, p.N155K, which haplotype data suggest derives from a recent founder in the local population. Analysis of a worldwide panel of 237 unaffected Labrador Retrievers and 59 additional control dogs from 25 other breeds failed to identify this variant, supporting it as the pathogenic mutation. Myotubularin protein levels and localization were abnormal in muscles from affected dogs, and expression of GFP-MTM1 p.N155K in COS-1 cells showed that the mutant protein was sequestered in proteasomes, where it was presumably misfolded and prematurely degraded. These data demonstrate that XLMTM in Labrador Retrievers is a faithful genetic model of the human condition.


Asunto(s)
Enfermedades de los Perros/genética , Mutación , Miopatías Estructurales Congénitas/veterinaria , Proteínas Tirosina Fosfatasas no Receptoras/genética , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Células COS , Chlorocebus aethiops , Enfermedades de los Perros/patología , Perros , Femenino , Técnica del Anticuerpo Fluorescente Indirecta , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/patología , Genotipo , Proteínas Fluorescentes Verdes/genética , Proteínas Fluorescentes Verdes/metabolismo , Haplotipos , Humanos , Masculino , Ratones , Ratones Noqueados , Microscopía Electrónica , Datos de Secuencia Molecular , Músculo Esquelético/metabolismo , Músculo Esquelético/patología , Músculo Esquelético/ultraestructura , Miopatías Estructurales Congénitas/genética , Miopatías Estructurales Congénitas/patología , Linaje , Proteínas Tirosina Fosfatasas no Receptoras/metabolismo , Homología de Secuencia de Aminoácido
19.
Can J Vet Res ; 74(2): 91-6, 2010 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-20592837

RESUMEN

The primary objective of this study was to determine the prevalence of subclinical hemotropic mycoplasma (HM) infections in 2 distinct feline populations: cats from a local shelter and client-owned cats presented for elective procedures (vaccination, ovariohysterectomy, orchiectomy) at the Western College of Veterinary Medicine - Veterinary Teaching Hospital (WCVM-VTH). The second objective of this study was to evaluate the inter-test agreement of 2 independent conventional polymerase chain reaction (PCR) assays used for the diagnosis of feline HM-infections.Fifty-eight clinically healthy shelter cats and 57 clinically healthy client-owned cats were screened for subclinical HM-infection using a conventional PCR assay to detect the 16S rRNA of Mycoplasma haemofelis and "Candidatus M. haemominutum." All cats in both groups had normal physical examinations. Sex, age (estimated for shelter cats), breed, reproductive status and the presence or absence of ectoparasites were determined. Packed cell volume (PCV), total protein, retroviral status, and blood smear evidence of HM-infection were evaluated. Subclinical HM-infection was identified by PCR assay in 12% (7/58) of the shelter cats and 4% (2/57) of the client-owned cats. M. haemofelis was found in 3/7 HM-infected shelter cats and 2/2 of the HM-infected client-owned cats; "Candidatus M. haemominutum" was found in 4/7 of the HM-infected shelter cats. There was no significant difference in prevalence of HM-infection between the populations (OR 3.8, 95% CI 0.75 to 19, P = 0.16), and no risk factors for infection were identified in either population.Blood samples from 44 cats with known PCR results (26 cats sampled in the prevalence study and 18 clinical cases) were submitted to a second independent laboratory for HM PCR assay to assess inter-laboratory agreement. There was substantial, but not complete agreement between the 2 independent laboratories for PCR detection of M. haemofelis (kappa = 0.66) and "Candidatus M. haemominutum" (kappa = 0.70).


Asunto(s)
Enfermedades de los Gatos/epidemiología , Laboratorios/normas , Infecciones por Mycoplasma/veterinaria , Mycoplasma/clasificación , Reacción en Cadena de la Polimerasa/veterinaria , Animales , Gatos , Femenino , Masculino , Infecciones por Mycoplasma/sangre , Infecciones por Mycoplasma/epidemiología , Prevalencia , Factores de Riesgo , Saskatchewan/epidemiología
20.
Can Vet J ; 51(3): 271-6, 2010 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20514250

RESUMEN

This retrospective study evaluated epidemiologic features and disease associations of feline immunodeficiency virus (FIV) infection in client owned cats from western Canada. Among 1205 cats that were tested 66 (5.5%) were positive for FIV antibody (FIV(+)) with a higher prevalence in males than females. FIV(+) cats were older than the overall population. Epidemiologic features and disease associations were compared between 58 FIV(+), but feline leukemia virus negative (FeLV(-)) cats and 58 age and sex matched FIV-negative (FIV(-)), FeLV(-) cats. FIV positivity was associated with a history of bite wounds, increasing age, and male gender. Lethargy and oral diseases were significantly associated with FIV positivity. Although several FIV(+) cats were euthanized, the survival time of FIV(+) cats after diagnosis was not significantly different from that of FIV(-) cats. In summary, FIV prevalence was low in cats from western Canada, clinical signs/diseases were mild, and lifespan was not different in FIV(+) cats.


Asunto(s)
Anticuerpos Antivirales/sangre , Síndrome de Inmunodeficiencia Adquirida del Felino/epidemiología , Virus de la Inmunodeficiencia Felina/inmunología , Virus de la Inmunodeficiencia Felina/aislamiento & purificación , Factores de Edad , Animales , Canadá/epidemiología , Gatos , Síndrome de Inmunodeficiencia Adquirida del Felino/sangre , Síndrome de Inmunodeficiencia Adquirida del Felino/mortalidad , Femenino , Masculino , Estudios Retrospectivos , Factores de Riesgo , Estudios Seroepidemiológicos , Factores Sexuales , Análisis de Supervivencia
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