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1.
Anim Genet ; 46(6): 711-5, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26374066

RESUMO

Some Devon Rex and Sphynx cats have a variably progressive myopathy characterized by appendicular and axial muscle weakness, megaesophagus, pharyngeal weakness and fatigability with exercise. Muscle biopsies from affected cats demonstrated variable pathological changes ranging from dystrophic features to minimal abnormalities. Affected cats have exacerbation of weakness following anticholinesterase dosing, a clue that there is an underlying congenital myasthenic syndrome (CMS). A genome-wide association study and whole-genome sequencing suggested a causal variant for this entity was a c.1190G>A variant causing a cysteine to tyrosine substitution (p.Cys397Tyr) within the C-terminal domain of collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ). Alpha-dystroglycan expression, which is associated with COLQ anchorage at the motor end-plate, has been shown to be deficient in affected cats. Eighteen affected cats were identified by genotyping, including cats from the original clinical descriptions in 1993 and subsequent publications. Eight Devon Rex and one Sphynx not associated with the study were identified as carriers, suggesting an allele frequency of ~2.0% in Devon Rex. Over 350 tested cats from other breeds did not have the variant. Characteristic clinical features and variant presence in all affected cats suggest a model for COLQ CMS. The association between the COLQ variant and this CMS affords clinicians the opportunity to confirm diagnosis via genetic testing and permits owners and breeders to identify carriers in the population. Moreover, accurate diagnosis increases available therapeutic options for affected cats based on an understanding of the pathophysiology and experience from human CMS associated with COLQ variants.


Assuntos
Acetilcolinesterase/genética , Doenças do Gato/genética , Gatos/genética , Colágeno/genética , Proteínas Musculares/genética , Síndromes Miastênicas Congênitas/genética , Animais , Cruzamento , Frequência do Gene , Estudo de Associação Genômica Ampla , Genótipo , Análise de Sequência de DNA
2.
PLoS Genet ; 8(9): e1002898, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23028339

RESUMO

Domestic dogs can suffer from hearing losses that can have profound impacts on working ability and quality of life. We have identified a type of adult-onset hearing loss in Border Collies that appears to have a genetic cause, with an earlier age of onset (3-5 years) than typically expected for aging dogs (8-10 years). Studying this complex trait within pure breeds of dog may greatly increase our ability to identify genomic regions associated with risk of hearing impairment in dogs and in humans. We performed a genome-wide association study (GWAS) to detect loci underlying adult-onset deafness in a sample of 20 affected and 28 control Border Collies. We identified a region on canine chromosome 6 that demonstrates extended support for association surrounding SNP Chr6.25819273 (p-value = 1.09 × 10(-13)). To further localize disease-associated variants, targeted next-generation sequencing (NGS) of one affected and two unaffected dogs was performed. Through additional validation based on targeted genotyping of additional cases (n = 23 total) and controls (n = 101 total) and an independent replication cohort of 16 cases and 265 controls, we identified variants in USP31 that were strongly associated with adult-onset deafness in Border Collies, suggesting the involvement of the NF-κB pathway. We found additional support for involvement of RBBP6, which is critical for cochlear development. These findings highlight the utility of GWAS-guided fine-mapping of genetic loci using targeted NGS to study hereditary disorders of the domestic dog that may be analogous to human disorders.


Assuntos
Proteínas de Transporte/genética , Doenças Cocleares/genética , Proteínas de Ligação a DNA/genética , Surdez , Endopeptidases/genética , Envelhecimento/genética , Animais , Mapeamento Cromossômico , Cóclea/crescimento & desenvolvimento , Cóclea/patologia , Surdez/genética , Surdez/veterinária , Cães , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , NF-kappa B/genética , Polimorfismo de Nucleotídeo Único , Ubiquitina-Proteína Ligases , Proteases Específicas de Ubiquitina
3.
Front Vet Sci ; 10: 1037404, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36777678

RESUMO

First described in human EEG over 60 years ago, there are very few examples of periodic discharges in the veterinary literature. They are associated with a wide variety of etiologies, both intracranial and systemic, making interpretation challenging. Whether these patterns are indicative of ictal, interictal, or postictal activity is a matter of debate and may vary depending on the clinical features in an individual patient. Periodic discharges have a repeated waveform occurring at nearly regular intervals, with varying morphology of individual discharges from simple sharp waves or slow waves to more complex events. Amplitudes, frequencies, and morphologies of the discharges can fluctuate, occasionally evolving, or resolving over time. This study presents a visual review of several veterinary cases with periodic discharges on EEG similar to those described in human EEG, and discusses the current known pathophysiology of these discharges.

4.
Neuromuscul Disord ; 33(8): 677-691, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37400349

RESUMO

Congenital hypomyelinating polyneuropathy (HPN) restricted to the peripheral nervous system was reported in 1989 in two Golden Retriever (GR) littermates. Recently, four additional cases of congenital HPN in young, unrelated GRs were diagnosed via neurological examination, electrodiagnostic evaluation, and peripheral nerve pathology. Whole-genome sequencing was performed on all four GRs, and variants from each dog were compared to variants found across >1,000 other dogs, all presumably unaffected with HPN. Likely causative variants were identified for each HPN-affected GR. Two cases shared a homozygous splice donor site variant in MTMR2, with a stop codon introduced within six codons following the inclusion of the intron. One case had a heterozygous MPZ isoleucine to threonine substitution. The last case had a homozygous SH3TC2 nonsense variant predicted to truncate approximately one-half of the protein. Haplotype analysis using 524 GR established the novelty of the identified variants. Each variant occurs within genes that are associated with the human Charcot-Marie-Tooth (CMT) group of heterogeneous diseases, affecting the peripheral nervous system. Testing a large GR population (n = >200) did not identify any dogs with these variants. Although these variants are rare within the general GR population, breeders should be cautious to avoid propagating these alleles.


Assuntos
Doença de Charcot-Marie-Tooth , Polineuropatias , Humanos , Animais , Cães , Doença de Charcot-Marie-Tooth/genética , Doença de Charcot-Marie-Tooth/veterinária , Doença de Charcot-Marie-Tooth/patologia , Proteínas/genética , Heterozigoto , Polineuropatias/genética , Polineuropatias/veterinária , Alelos , Mutação , Proteínas Tirosina Fosfatases não Receptoras/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteína P0 da Mielina/genética
5.
Front Vet Sci ; 10: 1040125, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37065231

RESUMO

This study was designed to identify abnormalities in the electroencephalograms (EEGs) recorded from stranded California sea lions (Zalophus californianus) with suspected domoic acid (DA) toxicosis. Recordings from animals presenting for non-neurological issues were also obtained to better understand the normal EEG (background activity and transient events) in this species, as, to date, studies have focused on examining natural sleep in pinnipeds. Most animals were sedated for electrode placement and EEG acquisition with some receiving antiepileptic medications or isoflurane during the procedure. A total of 103 recordings were read and scored from 0 (normal) to 3 (severely abnormal). Epileptiform discharges, consisting of spikes, sharp waves, slow waves, and/or spike waves, were present in all EEGs with scores of 1, 2, or 3. The distribution of these events over the scalp varied. While often generalized, others were lateralized over one hemisphere, bifrontal, bioccipital, and/or bitemporal, while some discharges were multifocal. Findings were different between sea lions and occasionally changed within the EEG on a given sea lion. No clinical seizures were observed during the recording but a few sea lions had findings consistent with electroencephalographic seizures. When available, supporting diagnostic results obtained from magnetic resonance imaging (MRI) and/or necropsy/histopathology were described, as well as the status of those sea lions that recovered and were released with satellite tags.

6.
Hum Genet ; 131(7): 1123-35, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22205389

RESUMO

We describe a severe form of congenital myasthenic syndrome (CMS) caused by two heteroallelic mutations: a nonsense and a missense mutation in the gene encoding agrin (AGRN). The identified mutations, Q353X and V1727F, are located at the N-terminal and at the second laminin G-like (LG2) domain of agrin, respectively. A motor-point muscle biopsy demonstrated severe disruption of the architecture of the neuromuscular junction (NMJ), including: dispersion and fragmentation of endplate areas with normal expression of acetylcholinesterase; simplification of postsynaptic membranes; pronounced reduction of the axon terminal size; widening of the primary synaptic cleft; and, collection of membranous debris material in the primary synaptic cleft and in the subsynaptic cytoplasm. Expression studies in heterologous cells revealed that the Q353X mutation abolished expression of full-length agrin. Moreover, the V1727F mutation decreased agrin-induced clustering of the acetylcholine receptor (AChR) in cultured C2 muscle cells by >100-fold, and phosphorylation of the MuSK receptor and AChR beta subunit by ~tenfold. Surprisingly, the V1727F mutant also displayed increased binding to α-dystroglycan but decreased binding to a neural (z+) agrin-specific antibody. Our findings demonstrate that agrin mutations can associate with a severe form of CMS and cause profound distortion of the architecture and function of the NMJ. The impaired ability of V1727F agrin to activate MuSK and cluster AChRs, together with its increased affinity to α-dystroglycan, mimics non-neural (z-) agrin and are important determinants of the pathogenesis of the disease.


Assuntos
Agrina/genética , Códon sem Sentido , Mutação de Sentido Incorreto , Síndromes Miastênicas Congênitas/genética , Acetilcolinesterase/metabolismo , Adulto , Agrina/química , Agrina/metabolismo , Sequência de Bases , Linhagem Celular , Distroglicanas/metabolismo , Feminino , Células HEK293 , Humanos , Masculino , Modelos Moleculares , Fibras Musculares Esqueléticas/metabolismo , Fibras Musculares Esqueléticas/patologia , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Síndromes Miastênicas Congênitas/metabolismo , Junção Neuromuscular/metabolismo , Junção Neuromuscular/patologia , Linhagem , Receptores Colinérgicos/genética , Receptores Colinérgicos/metabolismo , Análise de Sequência de DNA
7.
Am J Vet Res ; 72(3): 391-7, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21355743

RESUMO

OBJECTIVE: To characterize the electroencephalogram (EEG) in young cats. ANIMALS: 23 clinically normal cats. PROCEDURES: Cats were sedated with medetomidine hydrochloride and butorphanol tartrate at 2, 4, 6, 8, 12, 16, 20, and 24 weeks of age, and an EEG was recorded at each time point. Recordings were visually inspected for electrical continuity, interhemispheric synchrony, amplitude and frequency of background electrical activity, and frequency of transient activity. Computer-aided analysis was used to perform frequency spectral analysis and to calculate absolute and relative power of the background activity at each age. RESULTS: Electrical continuity was evident in cats ≥ 4 weeks old, and interhemispheric synchrony was evident in cats at all ages evaluated. Analysis of amplitude of background activity and absolute power revealed significant elevations in 6-week-old cats, compared with results for 2-, 20-, and 24-week-old cats. No association between age and relative power or frequency was identified. Transient activity, which consisted of sleep spindles and K complexes, was evident at all ages, but spike and spike-and-wave discharges were observed in cats at 2 weeks of age. CONCLUSIONS AND CLINICAL RELEVANCE: Medetomidine and butorphanol were administered in accordance with a sedation protocol that allowed investigators to repeatedly obtain EEG data from cats. Age was an important consideration when interpreting EEG data. These data on EEG development in clinically normal cats may be used for comparison in future studies conducted to examine EEGs in young cats with diseases that affect the cerebral cortex.


Assuntos
Anestesia/veterinária , Gatos , Eletroencefalografia/veterinária , Envelhecimento , Animais , Encéfalo/crescimento & desenvolvimento , Encéfalo/fisiologia , Butorfanol/farmacologia , Eletroencefalografia/instrumentação , Eletroencefalografia/métodos , Medetomidina/farmacologia , Valores de Referência
8.
J Avian Med Surg ; 24(1): 24-34, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20496603

RESUMO

Surgical procedures of the wing are commonly performed in companion, captive, and wild avian species. To develop a clinically applicable brachial plexus nerve block technique for perioperative analgesia in birds, 8 adult female mallard ducks (Anas platyrhynchos) were anesthetized and used in several local anesthetic trials with bupivacaine (2 or 8 mg/kg) or a combination of lidocaine (15 mg/kg) and epinephrine (3.8 microg/kg) perineurally; equal volumes of saline were administered as control treatments. Both axillary and dorsal approaches to the brachial plexus were evaluated. With the axillary approach, radial and ulnar compound nerve action potentials (CNAP), sensory nerve conduction velocities (SNCVs), and cord dorsum potentials (CDPs) were recorded after distal sensory nerve stimulation. Values were recorded before and at 5, 30, and 60 minutes after injection of local anesthetic or saline. Birds were monitored for the presence of a wing droop and a change in motor function on recovery from anesthesia. Results were highly variable for all techniques. No technique significantly decreased CDPs or resulted in consistent wing droop. Radial and ulnar CNAPs, SNCVs, and CDPs were consistently recorded in all birds. Variable results might indicate that the treatment, concentration, or volume of local anesthetic used was ineffective in producing local anesthesia. Electrodiagnostic methods used in these ducks to assess loss of sensory nerve conduction might not be sensitive enough to assess the effects of local anesthesia. Further research is needed to identify methods for assessing the efficacy of brachial plexus nerve blockade in birds.


Assuntos
Plexo Braquial/fisiologia , Bupivacaína/administração & dosagem , Patos/fisiologia , Lidocaína/administração & dosagem , Bloqueio Nervoso/veterinária , Analgesia/veterinária , Anestésicos Locais/administração & dosagem , Anestésicos Locais/farmacologia , Animais , Bupivacaína/farmacologia , Patos/cirurgia , Eletrofisiologia , Feminino , Lidocaína/farmacologia , Bloqueio Nervoso/métodos , Projetos Piloto , Procedimentos Cirúrgicos Operatórios/veterinária
9.
J Vet Intern Med ; 34(1): 258-265, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31769119

RESUMO

BACKGROUND: Congenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission that may be presynaptic, synaptic, or postsynaptic. Causative mutations have been identified in 4 breeds including the Labrador Retriever, Jack Russell Terrier, Heideterrier, and Danish Pointing Dog. HYPOTHESIS/OBJECTIVE: Clinical and genetic characterization of a neuromuscular disorder in Golden Retriever (GR) puppies. ANIMALS: Four GR puppies from California were evaluated for generalized muscle weakness beginning at weaning. Biological specimens were collected from the affected puppies, and familial information was obtained. Blood or buccal swabs were obtained from 63 unaffected GRs. METHODS: Complete physical, neurological, electrodiagnostic, and histological evaluations and biochemical quantification of muscle acetylcholine receptors were performed. Polymerase chain reaction was used to amplify the 17 exons of COLQ, and sequences were obtained by Sanger sequencing. Variant frequency was assessed in unrelated GRs and a public database. RESULTS: Clinical, neurological, and electrodiagnostic evaluations confirmed a disorder of neuromuscular transmission in a GR family. Sequencing of all exons and splice sites of a primary candidate gene, COLQ, identified a point mutation that predicts an amino acid substitution (G294R). The primary COLQ transcript was absent from affected muscle samples. All affected puppies were homozygous for the mutation, which was not detected outside this GR family or in other breeds. CONCLUSIONS AND CLINICAL IMPORTANCE: We confirmed the diagnosis of a CMS in GR puppies and identified a novel COLQ mutation. The COLQ gene encodes the collagenous tail of acetylcholinesterase, the enzyme responsible for termination of skeletal muscle contraction by clearing acetylcholine at the neuromuscular junction. Clinicians and breeders should be aware of this CMS in GR puppies with an early onset of weakness.


Assuntos
Acetilcolinesterase/genética , Doenças do Cão/genética , Predisposição Genética para Doença , Síndromes Miastênicas Congênitas/veterinária , Animais , Doenças do Cão/diagnóstico , Cães , Feminino , Masculino , Síndromes Miastênicas Congênitas/diagnóstico , Síndromes Miastênicas Congênitas/genética , Receptores Colinérgicos
10.
Acta Neuropathol ; 118(5): 711-7, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19718499

RESUMO

Sporadic inclusion body myositis (sIBM) is the most common myopathy in people over the age of 50 years. While immune-mediated inflammatory myopathies are well documented in dogs, sIBM has not been described. An 11-year-old dog with chronic and progressive neuromuscular dysfunction was evaluated for evidence of sIBM using current pathologic, immunohistochemical and electron microscopic diagnostic criteria. Vacuoles and congophilic intracellular inclusions were identified in cryostat sections of multiple muscle biopsies and immunostained with antibodies against amyloid-beta peptide, amyloid-beta precursor protein, and proteosome 20S of the ubiquitin-proteosome system. Cellular infiltration and increased expression of MHC Class I antigen were observed. Cytoplasmic filamentous inclusions, membranous structures, and myeloid bodies were identified ultrastructurally. These observations constitute the first evidence that both the inflammatory and degenerative features of human sIBM can occur in a non-human species.


Assuntos
Doenças do Cão/patologia , Miosite de Corpos de Inclusão/veterinária , Vacúolos/patologia , Animais , Antígenos CD/metabolismo , Doenças do Cão/fisiopatologia , Cães , Eletromiografia/métodos , Masculino , Microscopia Eletrônica de Transmissão/métodos , Músculo Esquelético/fisiopatologia , Músculo Esquelético/ultraestrutura , Miosite de Corpos de Inclusão/patologia , Miosite de Corpos de Inclusão/fisiopatologia , Vacúolos/metabolismo , Vacúolos/ultraestrutura
11.
J Am Vet Med Assoc ; 235(10): 1204-11, 2009 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-19912043

RESUMO

OBJECTIVE: To evaluate deafness in American Paint Horses by phenotype, clinical findings, brainstem auditory-evoked responses (BAERs), and endothelin B receptor (EDNBR) genotype. DESIGN: Case series and case-control studies. ANIMALS: 14 deaf American Paint Horses, 20 suspected-deaf American Paint Horses, and 13 nondeaf American Paint Horses and Pintos. PROCEDURES: Horses were categorized on the basis of coat color pattern and eye color. Testing for the EDNBR gene mutation (associated with overo lethal white foal syndrome) and BAERs was performed. Additional clinical findings were obtained from medical records. RESULTS: All 14 deaf horses had loss of all BAER waveforms consistent with complete deafness. Most horses had the splashed white or splashed white-frame blend coat pattern. Other patterns included frame overo and tovero. All of the deaf horses had extensive head and limb white markings, although the amount of white on the neck and trunk varied widely. All horses had at least 1 partially heterochromic iris, and most had 2 blue eyes. Ninety-one percent (31/34) of deaf and suspected-deaf horses had the EDNBR gene mutation. Deaf and suspected-deaf horses were used successfully for various performance events. All nondeaf horses had unremarkable BAER results. CONCLUSIONS AND CLINICAL RELEVANCE: Veterinarians should be aware of deafness among American Paint Horses, particularly those with a splashed white or frame overo coat color pattern, blend of these patterns, or tovero pattern. Horses with extensive head and limb markings and those with blue eyes appeared to be at particular risk.


Assuntos
Surdez/veterinária , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Predisposição Genética para Doença , Doenças dos Cavalos/diagnóstico , Receptores de Endotelina/genética , Animais , Comportamento Animal , Surdez/diagnóstico , Surdez/genética , Feminino , Genótipo , Doenças dos Cavalos/genética , Cavalos , Iris , Masculino , Pigmentação/genética , Pigmentação/fisiologia
12.
J Am Vet Med Assoc ; 254(8): 967-973, 2019 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-30938610

RESUMO

OBJECTIVE: To determine the prevalence of electrographic seizure (ES) and electrographic status epilepticus (ESE) in dogs and cats that underwent electroencephalography (EEG) because of suspected seizure activity and to characterize the clinical characteristics, risk factors, and in-hospital mortality rates for dogs and cats with ES or ESE. DESIGN: Retrospective case series. ANIMALS: 89 dogs and 15 cats. PROCEDURES: Medical records of dogs and cats that underwent EEG at a veterinary neurology service between May 2009 and April 2015 were reviewed. Electrographic seizure was defined as ictal discharges that evolved in frequency, duration, or morphology and lasted at least 10 seconds, and ESE was defined as ES that lasted ≥ 10 minutes. Patient signalment and history, physical and neurologic examination findings, diagnostic test results, and outcome were compared between patients with and without ES or ESE. RESULTS: Among the 104 patients, ES and ESE were diagnosed in 21 (20%) and 12 (12%), respectively. Seventeen (81%) patients with ES had no or only subtle signs of seizure activity. The in-hospital mortality rate was 48% and 50% for patients with ES and ESE, respectively, compared with 19% for patients without ES or ESE. Risk factors for ES and ESE included young age, overt seizure activity within 8 hours before EEG, and history of cluster seizures. CONCLUSIONS AND CLINICAL REVELANCE: Results indicated that ES and ESE were fairly common in dogs and cats with suspected seizure activity and affected patients often had only subtle clinical signs. Therefore, EEG is necessary to detect patients with ES and ESE.


Assuntos
Doenças do Gato , Doenças do Cão , Animais , Gatos , Cães , Eletroencefalografia , Prevalência , Estudos Retrospectivos , Convulsões/veterinária
13.
Am J Vet Res ; 69(11): 1476-80, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18980430

RESUMO

OBJECTIVE: To develop a clinically applicable technique for recording cord dorsum potentials (CDPs) following stimulation of the radial and ulnar nerves and establish reference values for radial and ulnar sensory nerve conduction velocities (SNCVs) in the wings of ducks. ANIMALS: 8 clinically normal adult female mallard ducks (Anas platyrhynchos). PROCEDURES: Radial and ulnar compound nerve action potentials (CNAPs) and CDPs were recorded following distal sensory nerve stimulation. The CDPs were recorded from the interarcuate space between the last cervical vertebra and the first thoracic vertebra. Surgical dissection and transection of the brachial plexus in 1 anesthetized duck were performed to identify nerve root location and confirm functional loss of nerve conduction assessed by loss of the CDP. RESULTS: Radial and ulnar CNAPs and CDPs were consistently recorded in all birds. Median radial SNCV was 38.3 m/s (range, 36.0 to 49.0 m/s), and ulnar SNCV was 35.3 m/s (range, 28.0 to 40.0 m/s). Surgical transection of the brachial plexus resulted in complete loss of the CDP. CONCLUSIONS AND CLINICAL RELEVANCE: Measurement of radial and ulnar SNCV or CDP is feasible in isoflurane-anesthetized mallard ducks. The CDP accurately reflects sensory nerve conduction through the brachial plexus. Assessment of brachial plexus function in mallard ducks via evaluations of SNCVs and CDPs may have application for diagnosis of traumatic injuries to the brachial plexus, evaluation of neuropathies associated with exposure to toxic chemicals, and assessment of the efficacy of interventions such as brachial plexus nerve blockade.


Assuntos
Patos/fisiologia , Potenciais Somatossensoriais Evocados/fisiologia , Condução Nervosa/fisiologia , Nervo Radial/fisiologia , Nervo Ulnar/fisiologia , Asas de Animais/fisiologia , Anestesia por Inalação/veterinária , Animais , Feminino , Estatísticas não Paramétricas
14.
J Zoo Wildl Med ; 39(4): 542-7, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19110694

RESUMO

Sedation in sea lions exhibiting abnormal neurologic signs may require modification of established sedatior protocols because of the likely interaction between effects of the sedative and physiologic changes in diseased animals The effects of two sedative combinations, 0.07 mg/kg medetomidine and 0.07 mg/kg medetomidine plus 0.2 mg/kg butorphanol, were compared between California sea lions (Zalophus californianus) with signs of neurologic dysfunctior (n=33) and without neurologic signs (n=8). Sedation depth was scored on a scale of 0 (no effect) to 4 (profound sedation) assessed by response to auditory, tactile, and visual stimuli at the time of perceived maximal sedative effect In the medetomidine-alone group, sea lions with neurologic signs attained a median sedation score of 4 compared to a median sedation score of 1 in the clinically normal sea lions. Sea lions with and without neurologic signs giver medetomidine-butorphanol attained a median sedation score of 4. No statistically significant difference in time to induction and respiratory rate was found between the two sedation protocols in all sea lions. In the sea lions with neurologic signs, the recovery time from medetomidine-butorphanol sedation was prolonged (P < 0.01) and minimum recorded heart rates, although remaining within normal physiologic limits, were lower (P = 0.02) when compared to the sea lions administered medetomidine alone. Muscle jerks were observed in many animals given medetomidine-butorphanol and were detrimental to the diagnostic quality of the electroencephalogram (EEG) recording. Medetomidine alone at a dose rate of 0.07 mg/kg thus provides adequate and safe sedation in sea lions with neurologic signs undergoing EEG evaluation.


Assuntos
Butorfanol/administração & dosagem , Sedação Consciente/veterinária , Sedação Profunda/veterinária , Medetomidina/administração & dosagem , Leões-Marinhos/fisiologia , Período de Recuperação da Anestesia , Animais , Animais Selvagens/fisiologia , Estudos de Casos e Controles , Sedação Consciente/métodos , Sedação Profunda/métodos , Eletroencefalografia/métodos , Eletroencefalografia/veterinária , Feminino , Frequência Cardíaca/efeitos dos fármacos , Frequência Cardíaca/fisiologia , Hipnóticos e Sedativos/administração & dosagem , Masculino , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/veterinária , Exame Neurológico/instrumentação , Exame Neurológico/métodos , Exame Neurológico/veterinária , Respiração/efeitos dos fármacos , Fatores de Tempo
15.
Am J Vet Res ; 78(8): 887-899, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28738007

RESUMO

OBJECTIVE To compare intraosseous pentobarbital treatment (IPT) and thoracic compression (TC) on time to circulatory arrest and an isoelectric electroencephalogram (EEG) in anesthetized passerine birds. ANIMALS 30 wild-caught adult birds (17 house sparrows [Passer domesticus] and 13 European starlings [Sturnus vulgaris]). PROCEDURES Birds were assigned to receive IPT or TC (n = 6/species/group). Birds were anesthetized, and carotid arterial pulses were monitored by Doppler methodology. Five subdermal braided-wire electrodes were used for EEG. Anesthetic depth was adjusted until a continuous EEG pattern was maintained, then euthanasia was performed. Times from initiation of euthanasia to cessation of carotid pulse and irreversible isoelectric EEG (indicators of death) were measured. Data (medians and first to third quartiles) were summarized and compared between groups within species. Necropsies were performed for all birds included in experiments and for another 6 birds euthanized under anesthesia by TC (4 sparrows and 1 starling) or IPT (1 sparrow). RESULTS Median time to isoelectric EEG did not differ significantly between treatment groups for sparrows (19.0 and 6.0 seconds for TC and IPT, respectively) or starlings (88.5 and 77.5 seconds for TC and IPT, respectively). Median times to cessation of pulse were significantly shorter for TC than for IPT in sparrows (0.0 vs 18.5 seconds) and starlings (9.5 vs 151.0 seconds). On necropsy, most (14/17) birds that underwent TC had grossly visible coelomic, pericardial, or perihepatic hemorrhage. CONCLUSIONS AND CLINICAL RELEVANCE Results suggested that TC might be an efficient euthanasia method for small birds. Digital pressure directly over the heart during TC obstructed venous return, causing rapid circulatory arrest, with rupture of the atria or vena cava in several birds. The authors propose that cardiac compression is a more accurate description than TC for this procedure.


Assuntos
Eutanásia Animal , Hipnóticos e Sedativos/administração & dosagem , Pentobarbital/administração & dosagem , Pardais , Anestesia/veterinária , Animais , Animais Selvagens , Eletroencefalografia/veterinária , Eutanásia Animal/métodos , Pressão , Estorninhos , Tórax
16.
J Vet Intern Med ; 20(6): 1443-9, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-17186863

RESUMO

BACKGROUND: Epilepsy is relatively uncommon in horses compared with other species and limited information is available. HYPOTHESIS: The objectives of the study were to describe the age of onset, clinical signs, clinicopathologic data, electroeticephalographic findings, treatment, and outcome, including long-term prognosis in Arabian foals with idiopathic epilepsy. ANIMALS: Twenty-two foals were included in the study. MATERIALS AND METHODS: Medical records from 1985 to 2005 were reviewed. RESULTS: The age of onset of affected foals ranged from 2 days to 6 months. Seizures were characterized by generalized tonic and clonic motor activity, staring, and loss of consciousness. The most common postictal signs were transient blindness and abnormal mental status. The interictal neurologic examination was otherwise normal. Clinicopathologic data and imaging diagnostics were normal except in 4 foals that developed complications. Electroencephalography revealed epileptiform activity in 9 of 13 foals. Foals were treated with benzodiazepines for the short-term; whereas phenobarbital was used over the long-term. Potassium bromide was added in 3 foals in which seizures were multiple, frequent, and difficult to control. The long-term prognosis was favorable with cessation of seizures by 1 year of age. The most common complication was head trauma. The most common concurrent disease was pneumonia. CONCLUSIONS AND CLINICAL IMPORTANCE: Juvenile idiopathic epilepsy of Egyptian Arabian foals has an early clinical onset but appears to be self-limiting. Information obtained from this study strongly suggests a heritable condition that merits further investigation.


Assuntos
Anticonvulsivantes/uso terapêutico , Doenças dos Cavalos/patologia , Epilepsia Mioclônica Juvenil/veterinária , Idade de Início , Animais , Animais Recém-Nascidos , Eletroencefalografia/métodos , Eletroencefalografia/veterinária , Epilepsia Generalizada/tratamento farmacológico , Epilepsia Generalizada/genética , Epilepsia Generalizada/patologia , Epilepsia Generalizada/veterinária , Epilepsia Tônico-Clônica/tratamento farmacológico , Epilepsia Tônico-Clônica/genética , Epilepsia Tônico-Clônica/patologia , Epilepsia Tônico-Clônica/veterinária , Feminino , Predisposição Genética para Doença , Doenças dos Cavalos/tratamento farmacológico , Doenças dos Cavalos/genética , Cavalos , Masculino , Epilepsia Mioclônica Juvenil/tratamento farmacológico , Epilepsia Mioclônica Juvenil/genética , Epilepsia Mioclônica Juvenil/patologia , Linhagem , Prognóstico , Estudos Retrospectivos , Resultado do Tratamento
17.
J Vet Intern Med ; 17(4): 545-50, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12892306

RESUMO

Single-fiber electromyography (SFEMG), a technique used to investigate neuromuscular transmission, has been described previously in the pelvic limb of dogs. Because preferential involvement of isolated muscle groups can occur in disorders of neuromuscular transmission, SFEMG was done in the peroneus longus (PL), extensor carpi radialis (ECR), and orbicularis oculi (OO) muscles of 10 adult, clinically normal dogs. Jitter was calculated as the mean absolute value of the consecutive differences in latency of 50 single muscle fiber action potentials after stimulation of intramuscular nerve bundles at the level of the motor point in at least 20 muscle fibers per muscle. Bilateral recordings were performed in 3 dogs. Mean jitter values were determined for each muscle, and differences among muscle groups and among dogs were compared. The upper limits of mean consecutive difference (mean plus 3 standard deviations) for the PL, ECR, and OO muscles were 21.94, 22.53, and 23.39 micros, respectively, and the upper limit of mean consecutive difference for individual muscle fibers in the respective fiber pools was 28.62, 36.39, and 35.68 micros. Jitter values for the ECR and OO were significantly higher than the jitter value for the PL muscle (P < .05). Significant differences among muscles or dogs or between sides were not observed for the ECR. Significant differences among dogs were observed for OO jitter values and were attributed to extremely low jitter values in 1 dog. Significant differences were demonstrated between sides for the PL and were attributed to small sample size. Results of this study provide normative data that can be used in the application of the stimulated SFEMG technique to dogs with suspected disorders of neuromuscular transmission.


Assuntos
Cães/fisiologia , Eletromiografia/veterinária , Fibras Musculares Esqueléticas/fisiologia , Músculo Esquelético/fisiologia , Potenciais de Ação , Animais , Estimulação Elétrica , Eletromiografia/normas , Membro Anterior , Membro Posterior , Neurônios Motores/fisiologia , Junção Neuromuscular/fisiologia , Músculos Oculomotores/fisiologia , Valores de Referência , Reprodutibilidade dos Testes
18.
J Am Vet Med Assoc ; 244(6): 708-14, 2014 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-24568113

RESUMO

CASE DESCRIPTION: A 10-year-old domestic shorthair cat was evaluated because of presumed seizures. CLINICAL FINDINGS: The cat had intermittent mydriasis, hyperthermia, and facial twitching. Findings of MRI and CSF sample analysis were unremarkable, and results of infectious disease testing were negative. Treatment was initiated with phenobarbital, zonisamide, and levetiracetam; however, the presumed seizure activity continued. Results of analysis of continuous electroencephalographic recording indicated the cat had nonconvulsive status epilepticus. TREATMENT AND OUTCOME: The cat was treated with phenobarbital IV (6 mg/kg [2.7 mg/lb] q 30 min during a 9-hour period; total dose, 108 mg/kg [49.1 mg/lb]); treatment was stopped when a burst-suppression electroencephalographic pattern was detected. During this high-dose phenobarbital treatment period, an endotracheal tube was placed and the cat was monitored and received fluids, hetastarch, and dopamine IV. Continuous mechanical ventilation was not required. After treatment, the cat developed unclassified cardiomyopathy, azotemia, anemia, and pneumonia. These problems resolved during a 9-month period. CLINICAL RELEVANCE: Findings for the cat of this report indicated electroencephalographic evidence of nonconvulsive status epilepticus. Administration of a high total dose of phenobarbital and monitoring of treatment by use of electroencephalography were successful for resolution of the problem, and treatment sequelae resolved.


Assuntos
Anticonvulsivantes/uso terapêutico , Doenças do Gato/diagnóstico , Eletroencefalografia/veterinária , Fenobarbital/uso terapêutico , Estado Epiléptico/veterinária , Animais , Doenças do Gato/tratamento farmacológico , Gatos , Eletroencefalografia/métodos , Masculino , Estado Epiléptico/diagnóstico , Estado Epiléptico/tratamento farmacológico
19.
PLoS One ; 9(8): e106425, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25166616

RESUMO

Congenital myasthenic syndromes (CMSs) are heterogeneous neuromuscular disorders characterized by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ). CMSs are rarely encountered in veterinary medicine, and causative mutations have only been identified in Old Danish Pointing Dogs and Brahman cattle to date. Herein, we characterize a novel CMS in 2 Labrador Retriever littermates with an early onset of marked generalized muscle weakness. Because the sire and dam share 2 recent common ancestors, CMS is likely the result of recessive alleles inherited identical by descent (IBD). Genome-wide SNP profiles generated from the Illumina HD array for 9 nuclear family members were used to determine genomic inheritance patterns in chromosomal regions encompassing 18 functional candidate genes. SNP haplotypes spanning 3 genes were consistent with autosomal recessive transmission, and microsatellite data showed that only the segment encompassing COLQ was inherited IBD. COLQ encodes the collagenous tail of acetylcholinesterase, the enzyme responsible for termination of signal transduction in the NMJ. Sequences from COLQ revealed a variant in exon 14 (c.1010T>C) that results in the substitution of a conserved amino acid (I337T) within the C-terminal domain. Both affected puppies were homozygous for this variant, and 16 relatives were heterozygous, while 288 unrelated Labrador Retrievers and 112 dogs of other breeds were wild-type. A recent study in which 2 human CMS patients were found to be homozygous for an identical COLQ mutation (c.1010T>C; I337T) provides further evidence that this mutation is pathogenic. This report describes the first COLQ mutation in canine CMS and demonstrates the utility of SNP profiles from nuclear family members for the identification of private mutations.


Assuntos
Acetilcolinesterase/genética , Estudos de Associação Genética/métodos , Síndromes Miastênicas Congênitas/patologia , Síndromes Miastênicas Congênitas/veterinária , Acetilcolinesterase/metabolismo , Substituição de Aminoácidos , Animais , Colágeno/genética , Cães , Feminino , Humanos , Masculino , Proteínas Musculares/genética , Mutação de Sentido Incorreto , Síndromes Miastênicas Congênitas/genética , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA
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