PESQUISA VETERINÁRIA BRASILEIRA

Abstract in English:

Uruguay sustains an extensive, pasture-based beef industry with more than 11 million cattle, dominated by Hereford and Aberdeen Angus breeds. Despite their economic importance, inherited disorders are often underreported because most associated losses occur prenatally, thus escaping routine postnatal detection (iceberg effect). This review synthesizes decades (1996–2025, 30 years) of veterinary surveillance and summarizes the clinicopathological features and population impact of hereditary diseases confirmed in Uruguay through integrated pathology and molecular testing. In Hereford cattle, we describe maple syrup urine disease (OMIA 000627-9913), congenital hypotrichosis (OMIA 002114-9913), epidermolysis bullosa simplex (OMIA 002081-9913), cardiomyopathy with woolly haircoat (OMIA 000161-9913), mandibulofacial dysostosis (OMIA 002288-9913), and idiopathic epilepsy (OMIA 000344-9913). In Aberdeen Angus, we detail osteopetrosis (OMIA 000755-9913), neuropathic hydrocephalus (OMIA 000487-9913), dwarfism (OMIA 001485-9913), syndactyly (OMIA 000963-9913), and arthrogryposis multiplex congenita (OMIA 002135-9913). These disorders exert a significant negative impact on reproductive efficiency and may represent a major hidden cause of the country’s consistently low weaning rates. This study highlights the need for systematic genomic surveillance to prevent the dissemination of genetic defects and to safeguard productivity, animal welfare, and the international reputation of Uruguay’s beef herds.

• Hereford cattle Aberdeen Angus inherited diseases congenital defects veterinary pathology Uruguay molecular diagnosis

Abstract in Portuguese:

O Uruguai mantém uma extensa indústria de carne bovina baseada em pastagens, com mais de 11 milhões de cabeças de gado, predominantemente das raças Hereford e Aberdeen Angus. Apesar de sua importância econômica, as doenças hereditárias são frequentemente subnotificadas, pois a maioria das perdas associadas ocorre no período pré-natal, escapando, portanto, à detecção pós-natal de rotina (efeito “iceberg”). Esta revisão sintetiza 30 anos (1996–2025) de vigilância veterinária e resume as características clinicopatológicas e o impacto populacional de doenças hereditárias confirmadas no Uruguai por meio de patologia integrada e testes moleculares. Em bovinos Hereford, descrevemos a doença da urina com odor de xarope de bordo (OMIA 000627-9913), hipotricose congênita (OMIA 002114-9913), epidermólise bolhosa simples (OMIA 002081-9913), cardiomiopatia com pelagem lanosa (OMIA 000161-9913), disostose mandibulofacial (OMIA 002288-9913) e epilepsia idiopática (OMIA 000344-9913). Em bovinos Aberdeen Angus, detalhamos osteopetrose (OMIA 000755-9913), hidrocefalia neuropática (OMIA 000487-9913), nanismo (OMIA 001485-9913), sindactilia (OMIA 000963-9913) e artrogripose múltipla congênita (OMIA 002135-9913). Essas doenças exercem um impacto negativo significativo na eficiência reprodutiva e podem representar uma importante causa oculta das taxas de desmame consistentemente baixas no país. Este trabalho destaca a necessidade de vigilância genômica sistemática para prevenir a disseminação de defeitos genéticos e salvaguardar a produtividade, o bem-estar animal e a reputação internacional dos rebanhos bovinos do Uruguai.

• Bovinos Hereford Aberdeen Angus doenças hereditárias defeitos congênitos patologia veterinária Uruguai diagnóstico molecular

Abstract in English:

ABSTRACT.- Macêdo J.T.S.A., Lucena R.B., Giaretta P.R., Kommers G.D., Fighera R.A., Irigoyen L.F. & Barros C.S.L. 2011. [Congenital defects in cattle from central Rio Grande do Sul, Brazil.] Defeitos congênitos em bovinos da Região Central do Rio Grande do Sul. Pesquisa Veterinária Brasileira 31(4):297-306. Departamento de Patologia, Universidade Federal de Santa Maria, Av. Roraima 1000, Camobi, Santa Maria, RS 97105-900, Brazil. E-mail: claudioslbarros@uol.com.br Cases of congenital defects (CDs) in cattle diagnosed at the Laboratory of Veterinary Pathology of the Federal University of Santa Maria from 1964 to 2010 were reviewed. During the studied period tissues collected from the necropsy of 7,132 cattle were examined and 31 calves (0.4%) with CDs were found. These CDs were classified into 34 different types and ascribed to the body system primarily affected. CDs were solitary (19 [61.3%]) or multiple (12 [38.7%]) and found with similar frequency in calves of both sexes. As several calves displayed multiple defects, a total of 53 CDs were computed. Out of the 53types of CDs diagnosed 15 (28.3%) affected the central nervous system (cranioschisis [4], cerebellar abiotrophy [2], spongy degeneration [2], hydrocephalus [2], meningocele [2], spina bifida [1], cerebellar hypoplasia [1], and hypomyelinogenesis [1]); nine (17.0%) affected the urogenital system (testicular agenesis [1], vaginal agenesia [1], penile hypoplasia [1], cloacal formation [1], freemartinism [1], ovarian vascular hamartoma [1], renal hypoplasia [1], renal cysts [1], and persistent urachus [1]); eight CDs (15,1%) were primary to the musculoskeletal system (arthrogryposis [4], scoliosis [1], plagiocephaly [1] schistosomus reflexus [1], and diprosopus [1]) and another eight (15,1%) were in the digestive system (palatoschisis [3], anal atresia [1], anorectal atresia [1], ano-colonic atresia [1], recto-vaginal fistula [1], and recto-urethral fistula [1]); in five instances (9.4%) the CD affected the cardiovascular system (persistent ductus arteriosus [2], persistence of foramen ovale [2], and ventricular septal defect [1]); four (7.5%) affected the lymphatic system and consisted of inherited hypoplasia or aplasia of lymphatic vessels and lymph nodes associated with lymphedema. Two cases (3.0%), of hypotrichosis were observed affecting the integument; one case (1.9%) of tracheal stenosis was found in the respiratory system and one case of goiter (1.9%) involved the endocrine system. The results of this survey inidicate that the majority o CDs in cattle in the central Rio Grande do Sul are sporadic; nevertheless their continued study is important for determining the etiology and control.

• Congenital defects inherited diseases defeitos congênitos doenças hereditárias

Abstract in Portuguese:

RESUMO.- Macêdo J.T.S.A., Lucena R.B., Giaretta P.R., Kommers G.D., Fighera R.A., Irigoyen L.F. & Barros C.S.L. 2011. [Congenital defects in cattle from central Rio Grande do Sul, Brazil.] Defeitos congênitos em bovinos da Região Central do Rio Grande do Sul. Pesquisa Veterinária Brasileira 31(4):297-306. Departamento de Patologia, Universidade Federal de Santa Maria, Av. Roraima 1000, Camobi, Santa Maria, RS 97105-900, Brazil. E-mail: claudioslbarros@uol.com.br Foram revisados casos de defeitos congênitos (DCs) diagnosticados em bovinos no Laboratório de Patologia da Universidade Federal de Santa Maria em 1964-2010. Durante o período estudado, foram examinados materiais provenientes da necropsia de 7.132 bovinos e foram encontrados 31 bezerros (0,4%) com DCs, os quais foram classificados em 34 tipos e alocados nos sistemas orgânicos primariamente afetados. Os DCs ocorriam isoladamente (19 [61,3%]) ou afetavam múltiplos sítios anatômicos (15 [28,7%]) com frequência semelhante em ambos os sexos. Como vários terneiros mostraram múltiplos DCs, um total de 53 DCs foi computado. Dos 53 DCs diagnosticados, 15 (28,3%) afetavam o sistema nervoso central (craniósquise [4], abiotrofia cerebelar [2], degeneração esponjosa [2], hidrocefalia [2], meningocele [2], espinha bífida [1], hipoplasia cerebelar [1] e hipomielinogênese [1]); nove (17,0%) afetavam o sistema urogenital (agenesia testicular [1], agenesia vaginal [1], hipoplasia peniana [1], formação de cloaca [1], freemartinismo [1], hamartoma vascular de ovário [1], hipoplasia renal [1], cistos renais [1] e úraco persistente [1]); oito DCs (15,1%) eram primários do sistema musculoesquelético (artrogripose [4], escoliose [1], plagiocefalia, [1] schistosomus reflexus [1] e diprosopia [1]); e outros oito (15,1%) foram alocados no sistema digestivo (palatosquise [3], atresia anal [1], atresia anorretal [1], atresia - anocolônica [1], fístula reto-vaginal [1] e fístula reto-uretral [1]); em cinco ocasiões (9,4%) o DC afetava o sistema cardiovascular (persistência do ducto arterioso [2], persistência do forame oval [2] e defeito do septo ventricular [1]); quatro (7,5%) afetavam o sistema linfático e consistiam de hipoplasia ou aplasia de vasos linfáticos e linfonodos associadas a linfedema. Dois casos (3,4%), de hipotricose foram observados afetando o integumento; um caso (1,9%) de estenose traqueal foi encontrado no sistema respiratório e um caso (1,9%) de bócio envolvia o sistema endócrino. Os resultados indicam que a maioria dos DCs em bovinos na Região Central do Rio Grande do sul é esporádica. No entanto, seu estudo continuado é importante para o estabelecimento de sua etiologia e controle.

Abstract in English:

Zlotowski P., Nakazato L., Dutra V., Barros S.S., Gimeno E.J., Göcks M., Colodel E.M. & Driemeier D. 2005. [Inherited glycogenosis in Brahman cattle in Brazil.] Glicogenose hereditária em bovinos Brahman no Brasil. Pesquisa Veterinária Brasileira 25(4):210-214. Setor de Patologia Veterinária, Departamento de Patologia Clínica Veterinária, Faculdade de Veterinária, Universidade Federal do Rio Grande do Sul, Av. Bento Gonçalves 9090, Bairro Agronomia, Cx. Postal 15094, Porto Alegre, RS 91540-000. Brazil. E-mail: davetpat@ufrgs.br An inherited disease of cattle, characterized by lysosomal storage of glycogen in several tissues, is reported. The disease was diagnosed in a Brahman herd in the municipality of Porto Lucena, Rio Grande do Sul, Brazil. Affected calves, after one month of age, showed progressive difficulty to follow their mother, retarded growth, muscular weakness and tremors, lethargy and poor body condition. All affected calves were sired by the same bull. Necropsy was performed on three affected calves. The only gross lesion detected was paleness of the skeletal muscles of the trunk and limbs. Cytoplasmic vacuoles, the main histological lesion, were particularly evident in skeletal muscles, myocardium and Purkinje fibers, in neurons of the brain and spinal cord. Large amounts of periodic acid Schiff (PAS) positive granules were also observed in these most severely affected tissues. Pretreatment with diastase completely abolished the PAS reactivity. The 1057?TA, a lethal mutation in the gene of the acid alpha-glucosidase, which causes generalized glycogenosis in Brahman cattle, was detected by PCR in paraffin embedded tissues of affected animals on which post-mortem examination was performed. Clinical, histological and molecular findings were similar to previous descriptions of generalized glycogenosis in Brahman cattle in Australia. No previous indexed reports about generalized glycogenosis of Brahman cattle in Brazil could be found.

• Glycogenosis inherited disease Brahman cattle.

Abstract in Portuguese:

Zlotowski P., Nakazato L., Dutra V., Barros S.S., Gimeno E.J., Göcks M., Colodel E.M. & Driemeier D. 2005. [Inherited glycogenosis in Brahman cattle in Brazil.] Glicogenose hereditária em bovinos Brahman no Brasil. Pesquisa Veterinária Brasileira 25(4):210-214. Setor de Patologia Veterinária, Departamento de Patologia Clínica Veterinária, Faculdade de Veterinária, Universidade Federal do Rio Grande do Sul, Av. Bento Gonçalves 9090, Bairro Agronomia, Cx. Postal 15094, Porto Alegre, RS 91540-000. Brazil. E-mail: davetpat@ufrgs.br An inherited disease of cattle, characterized by lysosomal storage of glycogen in several tissues, is reported. The disease was diagnosed in a Brahman herd in the municipality of Porto Lucena, Rio Grande do Sul, Brazil. Affected calves, after one month of age, showed progressive difficulty to follow their mother, retarded growth, muscular weakness and tremors, lethargy and poor body condition. All affected calves were sired by the same bull. Necropsy was performed on three affected calves. The only gross lesion detected was paleness of the skeletal muscles of the trunk and limbs. Cytoplasmic vacuoles, the main histological lesion, were particularly evident in skeletal muscles, myocardium and Purkinje fibers, in neurons of the brain and spinal cord. Large amounts of periodic acid Schiff (PAS) positive granules were also observed in these most severely affected tissues. Pretreatment with diastase completely abolished the PAS reactivity. The 1057?TA, a lethal mutation in the gene of the acid alpha-glucosidase, which causes generalized glycogenosis in Brahman cattle, was detected by PCR in paraffin embedded tissues of affected animals on which post-mortem examination was performed. Clinical, histological and molecular findings were similar to previous descriptions of generalized glycogenosis in Brahman cattle in Australia. No previous indexed reports about generalized glycogenosis of Brahman cattle in Brazil could be found.