Case report: A complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia.

At 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump. Additionally, myotonia of the upper lip muscles was observed upon manipulation.

Clinical and epidemiological aspects in equine aural plaques.

The association between aural plaques, Equus caballus papillomavirus (EcPV), and the different breeds of horses and risk factors is poorly described. The objective of this study was to determine the clinical prevalence of aural plaques in Mangalarga Marchador (MM) and Quarter Horse (QH) horses in Brazil, to evaluate the association of this prevalence with some risk factors, and to detect the presence of EcPV DNA (types 1-10) in aural plaques biopsies. A total of 400 MM and 425 QH horses, were clinically evaluated.

Evaluation of variants in the ENTPD1 and ENTPD2 genes in athletic horses with exercise-induced pulmonary haemorrhage.

Background: Exercise-induced pulmonary haemorrhage (EIPH) in athletic horses is characterized by the presence of blood from the lungs in the tracheobronchial tree after intense exercise. Despite the high prevalence of EIPH in horses, the primary aetiology remains unknown. Variants in the genes encoding CD39 and CD39L1 (ENTPD1 and ENTPD2, respectively) were previously reported as potential genetic causes involved in EIPH pathogenesis.

Brain Abscesses in Domestic Ruminants: Clinicopathological and Bacteriological Approaches.

Brain abscesses in ruminants often arise from primary infection foci, leading to an unfavorable prognosis for affected animals. This highlights the need for comprehensive studies on brain abscesses across different ruminant species. We retrospectively investigated medical records of epidemiological, clinical, neuroimaging, anatomopathological, and bacteriological findings in six ruminants (three goats, two cows, and one sheep) diagnosed with brain abscesses.

Evaluation of blastocyst re-expansion, quality in relation to storage temperature, and sexing using blastocoel fluid after manual perforation with a hand-held needle involving in vivo produced equine embryos.

The present study was designed to evaluate equine blastocyst re-expansion rate, quality, and sex following perforation of the blastocoel, collection of blastocoel fluid (BF), and PCR amplification of free DNA. Experiment 1 tested the feasibility of the BF sample collection with a hand-held, small-gauged needle (26g) and subsequent PCR amplification of the TSP-Y gene for males and AMEL-Y gene for males and AMEL-X gene for females. Experiment 2 tested the application of the technique.

Methicillin-resistant Staphylococcus spp. investigation in hospitalized horses and contacting personnel in a teaching veterinary hospital.

Staphylococci are well-known opportunistic pathogens associated with suppurative diseases in humans and animals. Antimicrobial resistance is an emergent threat to humans and animals worldwide. This study investigated the prevalence of methicillin-resistant Staphylococcus spp.

Hereditary myotonia in cats associated with a new homozygous missense variant p.Ala331Pro in the muscle chloride channel ClC-1.

Three-related cats were evaluated for a history of short-strided gait and temporary recumbency after startle. Neurological examination, electromyography (EMG), muscle biopsies, and a chloride voltage-gated channel 1 (CLCN1) molecular study were performed. Clinically, all 3 cats presented myotonia with warm-up phenomenon and myotonic discharges during EMG examination.

Pleural Empyema in Six Horses: A Retrospective Case Series.

The clinical findings of pleural empyema in six horses were retrospectively studied using epidemiological, clinical pathology, microbiological, ultrasound, and post-mortem data. The clinical findings included tachycardia (n = 3/6), tachypnea (n = 6/6), cyanotic mucosa (n = 2/6), hyperthermia (n = 4/6), inspiratory or mixed dyspnea (n = 6/6), presence of fluid and/or pleural rubbing (n = 2/6) and coarse crackling on auscultation (n = 4/6). Horses demonstrated leukocytosis (16.

Allele frequency of 43 (PRA1), 8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil.

Progressive retinal atrophy (PRA) is a term used in veterinary medicine to describe inherited and progressive retinal diseases characterized by progressive retinal degeneration and loss of vision. In the Golden Retriever (GR) breed, the mutations associated with PRA have an autosomal recessive inheritance pattern. This study aimed to verify the allele frequencies of PRA1, PRA2, and PRA-prcd in the GR breed in Brazil.

Solar radiation leads to increased collagenase gene expression (MMP1) in HERDA (Hereditary equine regional dermal asthenia) affected horses and may explain the typical dorsal distribution of their lesions.

Background: Hereditary equine regional dermal asthenia (HERDA) is a genetic disease that alters collagen biosynthesis. Affected horses exhibit fragile, hyperextensible skin, especially over the dorsal region. Although ultraviolet (UV) radiation seems to contribute to the regional distribution of lesions and worsening of clinical signs, the molecular mechanisms involved are largely unknown.

Allele Frequency of 1 Mutation in Holstein Cattle in Brazil.

1 is an autosomal recessive inherited mutation, associated with Holstein haplotype 1 (HH1) and characterized by a substitution of cytosine for a thymine (c.1741C>T) in chromosome 5. The mutation causes fetal and embryonic loss, between 60 and 200 days of gestation, and reduced conception rate.

Flash Visual Evoked Potentials in Conscious Horses: A Preliminary Study.

The visual evoked potential (VEP) has many applications in veterinary neurology, but the test is not routinely used in a clinical setting. The aim of this study was to describe a reliable method for recording flash visual evoked potentials (F-VEPs) in nonsedated horses. F-VEPs were recorded from both eyes in 20 healthy and calm, adult horses.

Case Report: A Possible Case of Congenital Erythropoietic Porphyria in a Gir Calf: A Clinical, Pathological, and Molecular Approach.

Congenital erythropoietic porphyria (CEP) is a rare hereditary autosomal recessive disease which has never been reported in Zebu cattle. A 3-day-old Gir calf showed teeth discoloration, fever, dehydration, and dyspnea. The main gross findings were pink-colored teeth, red-brown periosteum and bone marrow, and a fluorescent bright pink coloration of the bone marrow and articular surfaces under ultraviolet light.

Evaluation of a new variant in the aggrecan gene potentially associated with chondrodysplastic dwarfism in Miniature horses.

Chondrodysplastic dwarfism in Miniature horses is an autosomal recessive disorder previously associated with four mutations (D1, D2, D3*, and D4) in the aggrecan (ACAN) gene. The aim of this study was to identify additional variants in the candidate ACAN gene associated with chondrodysplastic dwarfism in Miniature horses. Fifteen dwarf Miniature horses were found to possess only one of the dwarfism-causing variants, and two possessed none of the variants.

Allele frequency of nonsense mutation responsible for hereditary nephropathy in English cocker spaniel dogs.

Hereditary nephropathy is a primary progressive glomerular disease in dogs associated with the c.115A>T mutation in the gene in English cocker spaniel (ECS) dogs. The disease is inherited in an autosomal recessive manner.

Neuromyotonia in a horse.

This article describes the clinical and electromyographic findings of neuromyotonia in a 19-month-old male crossbred Quarter Horse that presented with stiffness and muscle asymmetry in the hind limbs as well as sacrococcygeal, paravertebral, and gluteal myokymia. An electromyographic study showed spontaneous continuous muscle fiber activity with high-frequency discharges, fibrillations, positive sharp waves, fasciculation potentials, and complex repetitive discharges. Histological examination of the gluteal muscle showed a mixed neurogenic and myopathic pattern.

Complete Genome Sequence of a Hobi-Like Virus Isolated from a Nelore Cow with Gastroenteric Disease in the State of São Paulo, Brazil.

The Hobi-like virus presents antigenic and molecular differences in relation to bovine virus diarrhea virus 1 and 2. The description of the complete genome of the Hobi-like virus SV757/15, isolated from a Nelore cow with gastroenteric disease in Brazil, will help in understanding the evolution and diversity of pestiviruses.

Enteric Pathogens and Coinfections in Foals with and without Diarrhea.

Diarrhea is a major clinical problem affecting foals up to 3 months of age. The aim of this study was to identify enteric microorganisms involved in monoinfections and coinfections and the associated virulence factors in healthy and diarrheic foals. Diarrheic (D) ( = 56) and nondiarrheic (ND) foals ( = 60) up to three months of age were studied.

infection in two species of captive snakes.

Background: is an important zoonotic agent with companion, livestock and wildlife animals reportedly playing a role as reservoirs. Although its association with reptiles has been described, the disease cycle remains to be fully established, particularly in snakes. Accordingly, this study aimed to report the occurrence of mycobacteriosis with clinical pneumonia in one exotic python snake () and one native green snake () from the Sorocaba Zoo, São Paulo state, Brazil.

A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.

Background: Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species.

Results: Clinical examinations and pedigree analysis were performed in an affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained.