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Article: Cerebrospinal fluid analysis in horses, cattle, and sheep diagnosed with rabies: A retrospective study of 62 cases.

Zakia, Luiza S / Albertino, Lukas G / Andrade, Danilo G A / Amorim, Rogerio M / Takahira, Regina R / Oliveira-Filho, Jose P / Borges, Alexandre S

The Canadian veterinary journal = La revue veterinaire canadienne

2022 Volume 63, Issue 12, Page(s) 1242–1246

Abstract: Objectives: This study aimed to characterize the findings in cerebral spinal fluid (CSF) analysis of horses, cattle, and sheep diagnosed with rabies.: Animals: The study included 62 animals (horses, cattle, and sheep) diagnosed with rabies at a ... ...

Abstract	Objectives: This study aimed to characterize the findings in cerebral spinal fluid (CSF) analysis of horses, cattle, and sheep diagnosed with rabies. Animals: The study included 62 animals (horses, cattle, and sheep) diagnosed with rabies at a referral hospital. Methods: This was a retrospective study using medical records from large animals with neurological signs and confirmed positive direct immunofluorescence test for rabies from 2003 to 2020. The results of CSF analysis are presented descriptively. Results: Cerebral spinal fluid samples (N = 67) from 62 animals (31 horses, 24 cattle, and 7 sheep) were retrospectively evaluated. Of these 3 species, 28% (19/67) showed increased protein concentration, whereas 58% (39/67) presented mononuclear pleocytosis. In total, 37% of the samples (25/67) had protein concentration and total nucleated cell count within the reference range. Conclusions and clinical relevance: Cerebral spinal fluid from animals diagnosed with rabies was either normal or characterized by mild mononuclear pleocytosis and hyperproteinorrachia.
MeSH term(s)	Sheep ; Cattle ; Horses ; Animals ; Retrospective Studies ; Rabies/diagnosis ; Rabies/veterinary ; Leukocytosis/veterinary ; Medical Records ; Reference Values ; Cattle Diseases/diagnosis ; Horse Diseases/diagnosis ; Sheep Diseases/diagnosis
Language	English
Publishing date	2022-11-22
Publishing country	Canada
Document type	Journal Article
ZDB-ID	41603-4
ISSN	0008-5286
ISSN	0008-5286
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Article: Aggrecan, IL-1β, IL-6, and TNF-α profiles in the Articular Cartilage of Miniature Horses with Chondrodysplastic Dwarfism.

Basso, Roberta M / Andrade, Danilo G A / Alves, Carlos E F / Laufer-Amorim, Renée / Borges, Alexandre S / Oliveira-Filho, Jose P

Journal of equine veterinary science

2021 Volume 103, Page(s) 103643

Abstract: Dwarfism is a skeletal disorder that causes abnormal growth. In Miniature horses, dwarfism can occur as chondrodysplastic dwarfism, an autosomal recessive disorder associated with five mutations (D1, D2, D3*, D4 and c.6465A > T variant) in the aggrecan ( ... ...

Abstract	Dwarfism is a skeletal disorder that causes abnormal growth. In Miniature horses, dwarfism can occur as chondrodysplastic dwarfism, an autosomal recessive disorder associated with five mutations (D1, D2, D3*, D4 and c.6465A > T variant) in the aggrecan (ACAN) gene. The aim of this study was to evaluate the expression of aggrecan (at the gene and protein level) and specific cytokines (IL-1β, IL-6, and TNF-α) in the articular cartilage of Miniature horses with chondrodysplastic dwarfism (D4/c.6465A > T genotype). Metatarsal bone samples from eight dwarf Miniature horses were collected for histopathological analysis, and articular cartilage was collected to detect and quantify aggrecan levels through Western blotting and determine the relative expression levels of ACAN, IL-1β, IL-6, and TNF-α through qPCR. All affected animals presented chondrodysplasia-like lesions with disorganization of the chondrocyte layers and reduced the amount of an extracellular matrix. No significant difference in aggrecan expression levels in uncleaved samples from the dwarf and control groups (composed of phenotypically normal animals of similar age and breed (P = .7143)) was found using Western blotting. qPCR revealed that ACAN gene expression was higher in the affected animals than in normal animals (P = .0119). No significant difference in cytokine levels was detected between the groups. Mutant aggrecan may interfere with normal cellular function, leading to chondrodysplasia and the observed phenotypic findings.
MeSH term(s)	Aggrecans/genetics ; Animals ; Cartilage, Articular ; Dwarfism/genetics ; Dwarfism/veterinary ; Horse Diseases/genetics ; Horses ; Interleukin-6/genetics ; Tumor Necrosis Factor-alpha/genetics
Chemical Substances	Aggrecans ; Interleukin-6 ; Tumor Necrosis Factor-alpha
Language	English
Publishing date	2021-04-30
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2102631-2
ISSN	1542-7412 ; 0737-0806
ISSN (online)	1542-7412
ISSN	0737-0806
DOI	10.1016/j.jevs.2021.103643
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Article: Aggrecan, IL-1β, IL-6, and TNF-α profiles in the Articular Cartilage of Miniature Horses with Chondrodysplastic Dwarfism

Basso, Roberta M / Andrade, Danilo G.A / Alves, Carlos E.F / Laufer-Amorim, Renée / Borges, Alexandre S / Oliveira-Filho, Jose P

Journal of equine veterinary science. 2021 Aug., v. 103

2021

Abstract	Dwarfism is a skeletal disorder that causes abnormal growth. In Miniature horses, dwarfism can occur as chondrodysplastic dwarfism, an autosomal recessive disorder associated with five mutations (D1, D2, D3*, D4 and c.6465A > T variant) in the aggrecan (ACAN) gene. The aim of this study was to evaluate the expression of aggrecan (at the gene and protein level) and specific cytokines (IL-1β, IL-6, and TNF-α) in the articular cartilage of Miniature horses with chondrodysplastic dwarfism (D4/c.6465A > T genotype). Metatarsal bone samples from eight dwarf Miniature horses were collected for histopathological analysis, and articular cartilage was collected to detect and quantify aggrecan levels through Western blotting and determine the relative expression levels of ACAN, IL-1β, IL-6, and TNF-α through qPCR. All affected animals presented chondrodysplasia-like lesions with disorganization of the chondrocyte layers and reduced the amount of an extracellular matrix. No significant difference in aggrecan expression levels in uncleaved samples from the dwarf and control groups (composed of phenotypically normal animals of similar age and breed (P = .7143)) was found using Western blotting. qPCR revealed that ACAN gene expression was higher in the affected animals than in normal animals (P = .0119). No significant difference in cytokine levels was detected between the groups. Mutant aggrecan may interfere with normal cellular function, leading to chondrodysplasia and the observed phenotypic findings.
Keywords	cartilage ; dwarfing ; extracellular matrix ; gene expression ; genes ; genotype ; histopathology ; horses ; interleukin-6 ; mutants ; phenotype ; protein content ; veterinary medicine
Language	English
Dates of publication	2021-08
Publishing place	Elsevier Inc.
Document type	Article
Note	NAL-AP-2-clean
ZDB-ID	2102631-2
ISSN	1542-7412 ; 0737-0806
ISSN (online)	1542-7412
ISSN	0737-0806
DOI	10.1016/j.jevs.2021.103643
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Article: Prevalence of the E321G MYH1 variant in Brazilian Quarter Horses

de Albuquerque, Ana L. / Zanzarini Delfiol, Diego J. / Andrade, Danilo G. A. / Albertino, Lukas G. / Sonne, Luciana / Borges, Alexandre S. / Valberg, Stephanie J. / Finno, Carrie J. / Oliveira‐Filho, Jose P.

Equine veterinary journal. 2022 Sept., v. 54, no. 5

2022

Abstract: BACKGROUND: In the Quarter Horse (QH), myosin heavy chain myopathy (MYHM), which is characterised by nonexertional rhabdomyolysis or immune‐mediated myositis (IMM) with acute muscle atrophy, is strongly associated with the missense E321G MYH1 mutation. ... ...

Abstract	BACKGROUND: In the Quarter Horse (QH), myosin heavy chain myopathy (MYHM), which is characterised by nonexertional rhabdomyolysis or immune‐mediated myositis (IMM) with acute muscle atrophy, is strongly associated with the missense E321G MYH1 mutation. OBJECTIVES: To document the existence of MYHM in the Brazilian QH population, this study includes a case report of two related QH foals with the E321G MYH1 mutation that had clinical signs of MYHM, with histological confirmation of IMM in one of the foals. This prompted an investigation the aim of which was to determine the allele frequency of the E321G MYH1 variant across QHs using a DNA archive in Brazil. Study design Cross sectional. METHODS: To estimate the allele frequency of the E321G MYH1 variant in Brazilian QHs, 299 DNA samples from QHs used in different disciplines (reining, barrel racing, halter, cutting and racing) were analysed. DNA fragments containing the region with the mutation were amplified by PCR and used for direct genomic sequencing. RESULTS: Of the 299 genotyped QHs, 44 animals (14.7%) were heterozygous (My/N) for the E321G MYH1 variant, and 255 (85.3%) were homozygous for the wild‐type allele (N/N), implying an allele frequency of 0.074. Reining horses had a significantly higher prevalence of heterozygosity than horses in other disciplines (P = .008). MAIN LIMITATIONS: The DNA samples were collected from 2010 to 2014. As only registered QHs were evaluated, the results may not reflect the actual incidence in the general population of Brazilian QHs. CONCLUSIONS: The reported cases of MYHM and the high prevalence of the MYH1 mutation found in the assessed Brazilian QH population, particularly in reining QHs, suggests that MYHM should be included in genetic screening. Reasonable control measures are important to prevent an increase in the incidence of MYHM in QHs in Brazil.
Keywords	DNA ; Quarter Horse ; alleles ; case studies ; experimental design ; gene frequency ; genomics ; genotyping ; heterozygosity ; histology ; homozygosity ; muscular atrophy ; mutation ; myosin heavy chains ; myositis ; rhabdomyolysis ; Brazil
Language	English
Dates of publication	2022-09
Size	p. 952-957.
Publishing place	John Wiley & Sons, Ltd
Document type	Article
Note	JOURNAL ARTICLE
ZDB-ID	41606-x
ISSN	0425-1644
ISSN	0425-1644
DOI	10.1111/evj.13521
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Prevalence of the E321G MYH1 variant in Brazilian Quarter Horses.

de Albuquerque, Ana L / Zanzarini Delfiol, Diego J / Andrade, Danilo G A / Albertino, Lukas G / Sonne, Luciana / Borges, Alexandre S / Valberg, Stephanie J / Finno, Carrie J / Oliveira-Filho, Jose P

Equine veterinary journal

2021 Volume 54, Issue 5, Page(s) 952–957

Abstract: Background: In the Quarter Horse (QH), myosin heavy chain myopathy (MYHM), which is characterised by nonexertional rhabdomyolysis or immune-mediated myositis (IMM) with acute muscle atrophy, is strongly associated with the missense E321G MYH1 mutation.!# ...

Abstract	Background: In the Quarter Horse (QH), myosin heavy chain myopathy (MYHM), which is characterised by nonexertional rhabdomyolysis or immune-mediated myositis (IMM) with acute muscle atrophy, is strongly associated with the missense E321G MYH1 mutation. Objectives: To document the existence of MYHM in the Brazilian QH population, this study includes a case report of two related QH foals with the E321G MYH1 mutation that had clinical signs of MYHM, with histological confirmation of IMM in one of the foals. This prompted an investigation the aim of which was to determine the allele frequency of the E321G MYH1 variant across QHs using a DNA archive in Brazil. Study design Cross sectional. Methods: To estimate the allele frequency of the E321G MYH1 variant in Brazilian QHs, 299 DNA samples from QHs used in different disciplines (reining, barrel racing, halter, cutting and racing) were analysed. DNA fragments containing the region with the mutation were amplified by PCR and used for direct genomic sequencing. Results: Of the 299 genotyped QHs, 44 animals (14.7%) were heterozygous (My/N) for the E321G MYH1 variant, and 255 (85.3%) were homozygous for the wild-type allele (N/N), implying an allele frequency of 0.074. Reining horses had a significantly higher prevalence of heterozygosity than horses in other disciplines (P = .008). Main limitations: The DNA samples were collected from 2010 to 2014. As only registered QHs were evaluated, the results may not reflect the actual incidence in the general population of Brazilian QHs. Conclusions: The reported cases of MYHM and the high prevalence of the MYH1 mutation found in the assessed Brazilian QH population, particularly in reining QHs, suggests that MYHM should be included in genetic screening. Reasonable control measures are important to prevent an increase in the incidence of MYHM in QHs in Brazil.
MeSH term(s)	Animals ; Brazil/epidemiology ; Cross-Sectional Studies ; DNA ; Horse Diseases/epidemiology ; Horse Diseases/genetics ; Horses/genetics ; Prevalence
Chemical Substances	DNA (9007-49-2)
Language	English
Publishing date	2021-10-28
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	41606-x
ISSN	2042-3306 ; 0425-1644
ISSN (online)	2042-3306
ISSN	0425-1644
DOI	10.1111/evj.13521
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Article ; Online: Description of the D4/D4 genotype in Miniature horses with dwarfism.

Andrade, Danilo G A / Basso, Roberta M / Castiglioni, Maria C R / Silva, Jeana P / Machado, Vânia M V / Laufer-Amorim, Renée / Borges, Alexandre S / Oliveira-Filho, José P

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc

2020 Volume 32, Issue 1, Page(s) 99–102

Abstract: Four causative mutations (D1, D2, D3*, and D4) of chondrodysplastic dwarfism have been described in the ... ...

Abstract	Four causative mutations (D1, D2, D3*, and D4) of chondrodysplastic dwarfism have been described in the equine
MeSH term(s)	Aggrecans/genetics ; Animals ; Dwarfism/genetics ; Dwarfism/veterinary ; Genotype ; Horses/abnormalities ; Horses/genetics ; Male ; Mutation
Chemical Substances	Aggrecans
Language	English
Publishing date	2020-01-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	287603-6
ISSN	1943-4936 ; 1040-6387
ISSN (online)	1943-4936
ISSN	1040-6387
DOI	10.1177/1040638719898164
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Article: Description of the D4/D4 genotype in Miniature horses with dwarfism

Andrade, Danilo G. A / Basso, Roberta M / Castiglioni, Maria C. R / Silva, Jeana P / Machado, Vânia M. V / Laufer-Amorim, Renée / Borges, Alexandre S / Oliveira-Filho, José P

Journal of veterinary diagnostic investigation. 2020 Jan., v. 32, no. 1

2020

Abstract: Four causative mutations (D1, D2, D3*, and D4) of chondrodysplastic dwarfism have been described in the equine aggrecan (ACAN) gene. Homozygotes for one of these mutations and heterozygotes for any combination of these mutations exhibit the ... ...

Abstract	Four causative mutations (D1, D2, D3*, and D4) of chondrodysplastic dwarfism have been described in the equine aggrecan (ACAN) gene. Homozygotes for one of these mutations and heterozygotes for any combination of these mutations exhibit the disproportionate dwarfism phenotype. However, no case description of homozygotes for D4 (D4/D4) has been reported in the literature, to our knowledge. We report 2 Miniature horses with the genotype D4/D4 in the ACAN gene. Clinically, the 2 dwarfs had a domed head that was large compared to the rest of the body, mandibular prognathism, and short and bowed limbs, mainly in the proximal region of the metatarsal bones. Radiographic examination revealed contour irregularities of the subchondral bone in the long bones and confirmed mandibular prognathism; histopathology revealed irregular chondrocyte organization. To determine the genotypes of the horses, we performed DNA extraction from white blood cells, PCR, and Sanger sequencing. Genotyping demonstrated that these 2 animals had the D4/D4 genotype in the ACAN gene. The D4/D4 dwarfs were clinically similar to animals with the other ACAN genotypes reported for this disease. Identification of heterozygous animals makes mating selection possible and is the most important control measure to minimize economic losses and casualties.
Keywords	DNA ; Miniature (horse breed) ; bones ; control methods ; dwarfing ; financial economics ; genes ; genotyping ; head ; heterozygosity ; histopathology ; homozygosity ; horses ; leukocytes ; mutation ; phenotype ; polymerase chain reaction ; radiography
Language	English
Dates of publication	2020-01
Size	p. 99-102.
Publishing place	SAGE Publications
Document type	Article
ZDB-ID	287603-6
ISSN	1943-4936 ; 1040-6387
ISSN (online)	1943-4936
ISSN	1040-6387
DOI	10.1177/1040638719898164
Database	NAL-Catalogue (AGRICOLA)

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Article: Allele Frequency of the C.5G>A Mutation in the

Andrade, Larissa R / Caceres, Amanda M / Trecenti, Anelize S / Brandão, Claudia Valeria S / Gandolfi, Micaella G / Aguiar, Evian V / Andrade, Danilo G A / Borges, Alexandre S / Oliveira-Filho, Jose P

Animals : an open access journal from MDPI

2019 Volume 9, Issue 10

Abstract: Progressive retinal atrophy (PRA) due to the c.5G>A mutation in the progressive rod-cone degeneration ( ...

Abstract	Progressive retinal atrophy (PRA) due to the c.5G>A mutation in the progressive rod-cone degeneration (
Language	English
Publishing date	2019-10-21
Publishing country	Switzerland
Document type	Journal Article
ISSN	2076-2615
ISSN	2076-2615
DOI	10.3390/ani9100844
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Article: Allele Frequency of the C.5G>A Mutation in the <i>PRCD</i> Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs

Andrade, Larissa R / Caceres, Amanda M / Trecenti, Anelize S / Brandão, Claudia Valeria S / Gandolfi, Micaella G / Aguiar, Evian V / Andrade, Danilo G.A / Borges, Alexandre S / Oliveira-Filho, Jose P

Animals. 2019 Oct. 21, v. 9, no. 10

2019

Abstract: Progressive retinal atrophy (PRA) due to the c.5G>A mutation in the progressive rod–cone degeneration (PRCD) gene is an important genetic disease in English cocker spaniel (ECS) dogs. Because the prevalence of this disease has not been verified in Brazil, ...

Abstract	Progressive retinal atrophy (PRA) due to the c.5G>A mutation in the progressive rod–cone degeneration (PRCD) gene is an important genetic disease in English cocker spaniel (ECS) dogs. Because the prevalence of this disease has not been verified in Brazil, this study aimed to evaluate the allele frequency of the c.5G>A mutation in the PRCD gene. Purified DNA from 220 ECS dogs was used for genotyping, of which 131 were registered from 18 different kennels and 89 were unregistered. A clinical eye examination was performed in 28 of the genotyped animals; 10 were homozygous mutants. DNA fragments containing the mutation region were amplified by PCR and subjected to direct genomic sequencing. The prcd-PRA allele frequency was 25.5%. Among the registered dogs, the allele frequency was 14.9%; among the dogs with no history of registration, the allele frequency was 41%. Visual impairment was observed in 80% (8/10) of the homozygous mutant animals that underwent clinical eye examination. The high mutation frequency found in this study emphasizes the importance of genotyping ECSs as an early diagnostic test, especially as part of an informed breeding program, to avoid clinical cases of PRA.
Keywords	Cocker Spaniel ; DNA ; DNA fragmentation ; atrophy ; breeding programs ; dogs ; eyes ; gene frequency ; genes ; genetic disorders ; genotyping ; homozygosity ; kennels ; mutants ; mutation ; mutation rate ; polymerase chain reaction ; sequence analysis ; vision disorders ; Brazil
Language	English
Dates of publication	2019-1021
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ISSN	2076-2615
DOI	10.3390/ani9100844
Database	NAL-Catalogue (AGRICOLA)

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