Thyroid dysgenesis associated with dwarfism, osteoporosis and spontaneous fractures in a goat.

An 11-month-old female Saanen goat, weighing 12.7 kg, was taken to the Veterinary Hospital of the Federal University of Minas Gerais because of sternal recumbency. On clinical examination, the animal was much smaller than expected and had hair similar to that of puppies and areas of hyperpigmentation on the head and dorsocervical and dorsothoracic cranial regions. Radiographic examination revealed fractures in both femurs and severe generalized osteoporosis. Given the unfavourable prognosis, the animal was euthanized. Necropsy revealed generalized pallor, muscular atrophy of the pelvic limbs and little reserve of subcutaneous adipose tissue. Both femurs had complete and closed diaphyseal fractures. The second lumbar vertebra was severely reduced in length as a result of a fracture, with dorsal displacement of the vertebral body towards the vertebral canal and compression of the spinal cord. Long bones and vertebrae had severe cortical thinning, enlargement of the medullary canal and reduced resistance. The thyroid gland was not in its normal anatomical location. A pale red nodule (1.0 × 0.4 cm) in the serosa of the middle third of the trachea, close to the thoracic entrance, was confirmed as ectopic thyroid tissue. Microscopically, the bones had evidence of growth arrest and severe osteoporosis. The ectopic thyroid nodule was hyperplastic with severe hypertrophy of follicular cells. The spinal cord was compressed by vertebral fractures and had focally extensive and severe myelomalacia. Based on the pathological features, the case was diagnosed as thyroid dysgenesis characterized by eutopic thyroid agenesis and ectopic thyroid tissue, associated with interruption of bone growth with dwarfism, osteoporosis and spontaneous secondary fractures with compression of the lumbar spinal cord.

PRKG2 Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism.

Dwarfism phenotypes occur in many species and may be caused by genetic or environmental factors. In this study, we investigated a family of nine Dogo Argentino dogs, in which two dogs were affected by disproportionate dwarfism. Radiographs of an affected dog revealed a decreased level of endochondral ossification in its growth plates, and a premature closure of the distal ulnar physes. The pedigree of the dogs presented evidence of monogenic autosomal recessive inheritance; combined linkage and homozygosity mapping assigned the most likely position of a potential genetic defect to 34 genome segments, totaling 125 Mb. The genome of an affected dog was sequenced and compared to 795 control genomes. The prioritization of private variants revealed a clear top candidate variant for the observed dwarfism. This variant, PRKG2:XM_022413533.1:c.1634+1G>T, affects the splice donor site and is therefore predicted to disrupt the function of the PKRG2 gene encoding protein, kinase cGMP-dependent type 2, a known regulator of chondrocyte differentiation. The genotypes of the PRKG2 variant were perfectly associated with the phenotype in the studied family of dogs. PRKG2 loss-of-function variants were previously reported to cause disproportionate dwarfism in humans, cattle, mice, and rats. Together with the comparative data from other species, our data strongly suggest PRKG2:c.1634+1G>T to be a candidate causative variant for the observed dwarfism phenotype in Dogo Argentino dogs.

Aggrecan, IL-1ß, IL-6, and TNF-α profiles in the Articular Cartilage of Miniature Horses with Chondrodysplastic Dwarfism.

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-1ß, 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-1ß, 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.

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. The ACAN exons (EquCab3.0) of seven dwarf Miniature horses were sequenced. A missense SNP in coding exon 11 (g.95271115A > T, c.6465A > T-RefSeq XM_005602799.2), which resulted in the amino acid substitution p.Leu2155Phe (RefSeq XP_005602856.2), was initially associated with the dwarf phenotype. The variant was tested and found present in 14 dwarf foals as well as one parent of each, and both parents of a dwarf possessing two copies. Genetic testing of 347 phenotypically normal Miniature horses demonstrated that none had more than one of the dwarf alleles or c.6465A > T. However, a study of large breeds revealed the presence of c.6465A > T, which was present in homozygosis in two Mangalarga Marchador horses. We suggest that c.6465A > T as a marker of disequilibrium or complex interactions in the Miniature horse genome could contribute to the associated dwarfism.

Chondrodysplasia Bulldog type in cattle in the state of Bahia, Brazil

Chondrodysplasia is a congenital or hereditary disorder of the endochondral ossification that results in several degrees of disproportionate dwarfism. Reports of this disease are scarce in the national literature and do not emphasize radiographic characteristics. The goal of this study was to describe the clinicopathological and radiographic aspects of a case of Bulldog type chondrodysplasia in a crossbred bovine fetus in the state of Bahia, Brazil. The fetus exhibited arounded and disproportionate skull, bilateral exophthalmos, inferior brachygnathism, partial tongue protrusion, extremely short limbs, short vertebral column and ventral abdominal hernia. Radiographic evaluation revealed that the diaphysis were the only calcified bone portions of the limbs, that the vertebral column was shortened without vertebral spinal processes and that there was craniofacial disproportion. Microscopic of the femur showed an irregular epiphyseal plaque, formed by denseclusters of chondrocytes with absence of growth plate zones. The metaphysis was markedly short and consisted of thick bony trabeculae, surrounded by cartilaginous islands. It was concluded that fetuses with Bulldog type chondrodysplasia exhibit slight morphological and radiographic variation according to the affected breed and that the gene carrier of chondrodysplasia is present in the miniature Jersey and Punganur population in the state of Bahia.

Chondrodysplasia Bulldog type in cattle in the state of Bahia, Brazil

Chondrodysplasia is a congenital or hereditary disorder of the endochondral ossification that results in several degrees of disproportionate dwarfism. Reports of this disease are scarce in the national literature and do not emphasize radiographic characteristics. The goal of this study was to describe the clinicopathological and radiographic aspects of a case of Bulldog type chondrodysplasia in a crossbred bovine fetus in the state of Bahia, Brazil. The fetus exhibited arounded and disproportionate skull, bilateral exophthalmos, inferior brachygnathism, partial tongue protrusion, extremely short limbs, short vertebral column and ventral abdominal hernia. Radiographic evaluation revealed that the diaphysis were the only calcified bone portions of the limbs, that the vertebral column was shortened without vertebral spinal processes and that there was craniofacial disproportion. Microscopic of the femur showed an irregular epiphyseal plaque, formed by denseclusters of chondrocytes with absence of growth plate zones. The metaphysis was markedly short and consisted of thick bony trabeculae, surrounded by cartilaginous islands. It was concluded that fetuses with Bulldog type chondrodysplasia exhibit slight morphological and radiographic variation according to the affected breed and that the gene carrier of chondrodysplasia is present in the miniature Jersey and Punganur population in the state of Bahia.(AU)

Description of the D4/D4 genotype in Miniature horses with dwarfism.

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.

Congenital secondary hypothyroidism evidences in a dog

Background: Deficiency of thyroid hormones thyroxine (T4) and triiodothyronine (T3) results in multisystemic disease described as hypothyroidism (HpoT). Secondary HpoT is defined by TSH decreased production and, therefore, thyroid hormones. This condition is rare in dogs, accounting for less than 5% of cases. The objective of this report is to describe evidence of congenital secondary hypothyroidism in a mongrel dog and therapeutic response obtained.Case: A 3-year-old neutered male mongrel dog was brought to the veterinarian with a history of overweight without polyphagia, associated with discrete alopecia, poor quality skin and hair coat, lethargy and evident exercise intolerance. Physical examination revealed a body condition score of seven (1 to 9 scale), disqueratosis, pyoderma, ventral cervical alopecia, hair thinning on the posterior surface of the pelvic limbs and nonpalpable thyroid. A body conformation characterized by disproportionate dwarfism was observed. Owners provided a former patient´s X-ray (18 months of age), showing growth plate non-closure in vertebral bodies. Results of a complete blood count (CBC) and serum biochemical profile were within normal limits except for elevated fructosamine (459 µmol/L; reference range: 170-338 µmol/L) and total cholesterol (558 mg/dL; reference range: 135-270 mg/dL). Analyses of the hormone profile showed decreased levels of canine thyroid-stimulating hormone (cTSH) 0.03 ng/mL (reference range: 0.05-0.5 ng/mL), free thyroxine by equilibrium dialysis (fdT4) 0.57 ng/dL (reference range: 0.8-3.0 ng/dL), and total thyroxine (tT4) 5.1 ng/mL (reference range: 15-30 ng/mL). A distal forelimb X-ray was performed and showed opened epiphyseal growth plates from radius and ulnar bones. The patient was discharged with sodium levothyroxine (20 µg/kg PO q 24 hr) until re-evaluation...(AU)

Congenital secondary hypothyroidism evidences in a dog

Background: Deficiency of thyroid hormones thyroxine (T4) and triiodothyronine (T3) results in multisystemic disease described as hypothyroidism (HpoT). Secondary HpoT is defined by TSH decreased production and, therefore, thyroid hormones. This condition is rare in dogs, accounting for less than 5% of cases. The objective of this report is to describe evidence of congenital secondary hypothyroidism in a mongrel dog and therapeutic response obtained.Case: A 3-year-old neutered male mongrel dog was brought to the veterinarian with a history of overweight without polyphagia, associated with discrete alopecia, poor quality skin and hair coat, lethargy and evident exercise intolerance. Physical examination revealed a body condition score of seven (1 to 9 scale), disqueratosis, pyoderma, ventral cervical alopecia, hair thinning on the posterior surface of the pelvic limbs and nonpalpable thyroid. A body conformation characterized by disproportionate dwarfism was observed. Owners provided a former patient´s X-ray (18 months of age), showing growth plate non-closure in vertebral bodies. Results of a complete blood count (CBC) and serum biochemical profile were within normal limits except for elevated fructosamine (459 µmol/L; reference range: 170-338 µmol/L) and total cholesterol (558 mg/dL; reference range: 135-270 mg/dL). Analyses of the hormone profile showed decreased levels of canine thyroid-stimulating hormone (cTSH) 0.03 ng/mL (reference range: 0.05-0.5 ng/mL), free thyroxine by equilibrium dialysis (fdT4) 0.57 ng/dL (reference range: 0.8-3.0 ng/dL), and total thyroxine (tT4) 5.1 ng/mL (reference range: 15-30 ng/mL). A distal forelimb X-ray was performed and showed opened epiphyseal growth plates from radius and ulnar bones. The patient was discharged with sodium levothyroxine (20 µg/kg PO q 24 hr) until re-evaluation...

Detection of enteric viruses in pancreas and spleen of broilers with runting-stunting syndrome (RSS) / Detecção de vírus entéricos em pâncreas e baço de frangos com a síndrome de nanismo e raquitismo (RSS)

Enteric disease is a multifactorial problem in chickens, which causes gastrointestinal alterations, elevated feed conversions and impairment. In the last years, several enteric viruses were implicated in enteric disease; case reports have shown their presence alone or in concomitant infections during outbreaks and have suggested that they might be determining factors in the aetiology of enteric disease. This study shows high detection rates of enteric viruses in the pancreas and spleen in samples from an outbreak of enteritis and malabsorption in 16 chicken flocks (n=80 broilers). Avian nephritis virus (ANV) was the most ubiquitous virus, present in 75% of the flocks followed by avian rotavirus group A (ART-A) with 68.75%, and by chicken astrovirus (CAstV) and chicken parvovirus (ChPV) in 43.75% of samples. Viruses were present in the pancreas of positive flocks at extremely high rates: 100% for ART-A, 91.7% for ANV, 100% for CAstV and 57.14% for ChPV. By contrast, only 16.7% and 57.14% of intestine samples were positive for ANV and CAstV, respectively. Avian reovirus (AReo) and avian adenovirus group 1 (FAdV-1) were not detected. These results suggest that high viral detection rates in pancreas samples may be a result of viremia during enteric disease, with subsequent damage of the exocrine pancreas, leading to runting-stunting syndrome (RSS).(AU)

A doença entérica é um problema multifatorial em galinhas que causa alterações gastrointestinais, conversão alimentar elevada e deficiência de crescimento. Nos últimos anos, os vírus entéricos foram associados à doença entérica; casos reportados mostraram a infecção de um único vírus e também infecções concomitantes durante os surtos sugerindo a presença de múltiplos fatores etiológicos nas doenças entéricas. Este estudo mostra uma alta taxa de detecção dos vírus entéricos em amostras de pâncreas e baço de um surto de enterite e má-absorção em 16 lotes de frangos (n=80 frangos). O vírus de nefrite aviária (ANV) foi o vírus mais detectado, estando presente em 75% dos lotes seguido pelo rotavírus aviário grupo A (ART-A) em 68,75% dos casos, e pelo astrovirus (CAstV) e parvovírus aviários (ChPV), ambos em 43,75% das amostras. Os vírus estavam presentes no pâncreas dos lotes positivos em percentuais elevados: 100% para ART-A e CAstV; 91,7% para ANV, e em 57,14% para ChPV. Em contraste, somente 16,7% e 57,14%, em amostras de intestino, foram positivos para ANV e CAstV, respectivamente. Reovírus aviário (AReo) e o adenovírus do grupo 1 (FAdV-1) não foram detectados. Estes resultados sugerem que os elevados percentuais de vírus detectados em amostras de pâncreas podem estar associados à viremia durante a doença entérica, com subsequente lesão no pâncreas exócrino das aves levando ao desenvolvimento da síndrome de nanismo e raquitismo.(AU)

Detection of enteric viruses in pancreas and spleen of broilers with runting-stunting syndrome (RSS) / Detecção de vírus entéricos em pâncreas e baço de frangos com a síndrome de nanismo e raquitismo (RSS)

Enteric disease is a multifactorial problem in chickens, which causes gastrointestinal alterations, elevated feed conversions and impairment. In the last years, several enteric viruses were implicated in enteric disease; case reports have shown their presence alone or in concomitant infections during outbreaks and have suggested that they might be determining factors in the aetiology of enteric disease. This study shows high detection rates of enteric viruses in the pancreas and spleen in samples from an outbreak of enteritis and malabsorption in 16 chicken flocks (n=80 broilers). Avian nephritis virus (ANV) was the most ubiquitous virus, present in 75% of the flocks followed by avian rotavirus group A (ART-A) with 68.75%, and by chicken astrovirus (CAstV) and chicken parvovirus (ChPV) in 43.75% of samples. Viruses were present in the pancreas of positive flocks at extremely high rates: 100% for ART-A, 91.7% for ANV, 100% for CAstV and 57.14% for ChPV. By contrast, only 16.7% and 57.14% of intestine samples were positive for ANV and CAstV, respectively. Avian reovirus (AReo) and avian adenovirus group 1 (FAdV-1) were not detected. These results suggest that high viral detection rates in pancreas samples may be a result of viremia during enteric disease, with subsequent damage of the exocrine pancreas, leading to runting-stunting syndrome (RSS).(AU)

A doença entérica é um problema multifatorial em galinhas que causa alterações gastrointestinais, conversão alimentar elevada e deficiência de crescimento. Nos últimos anos, os vírus entéricos foram associados à doença entérica; casos reportados mostraram a infecção de um único vírus e também infecções concomitantes durante os surtos sugerindo a presença de múltiplos fatores etiológicos nas doenças entéricas. Este estudo mostra uma alta taxa de detecção dos vírus entéricos em amostras de pâncreas e baço de um surto de enterite e má-absorção em 16 lotes de frangos (n=80 frangos). O vírus de nefrite aviária (ANV) foi o vírus mais detectado, estando presente em 75% dos lotes seguido pelo rotavírus aviário grupo A (ART-A) em 68,75% dos casos, e pelo astrovirus (CAstV) e parvovírus aviários (ChPV), ambos em 43,75% das amostras. Os vírus estavam presentes no pâncreas dos lotes positivos em percentuais elevados: 100% para ART-A e CAstV; 91,7% para ANV, e em 57,14% para ChPV. Em contraste, somente 16,7% e 57,14%, em amostras de intestino, foram positivos para ANV e CAstV, respectivamente. Reovírus aviário (AReo) e o adenovírus do grupo 1 (FAdV-1) não foram detectados. Estes resultados sugerem que os elevados percentuais de vírus detectados em amostras de pâncreas podem estar associados à viremia durante a doença entérica, com subsequente lesão no pâncreas exócrino das aves levando ao desenvolvimento da síndrome de nanismo e raquitismo.(AU)

Skeletal dysplasia with craniofacial deformity and disproportionate dwarfism in hair sheep of northeastern Brazil.

This paper reports a newly described form of skeletal dysplasia affecting Brazilian hair sheep of the Cabugi breed. This breed is characterized by having a short head and in some cases the animals are smaller and more compact than sheep of similar breeds. Lambs born with craniofacial abnormalities and dwarfism that die at 2-6 months of age are frequent in this breed. In a flock of 68 ewes and three rams of the Cabugi breed, 134 lambs were born over a 4-year period. Of these, 14 (10.4%) had marked cranial abnormalities and dwarfism and died or were humanely destroyed, 43 (32%) had a normal face and 77 (57.5%) had the short face characteristic of the breed. Dwarf lambs were much smaller than normal, with short legs, a domed head with retruded muzzle and protruded mandible, sternal deformities and exophthalmic eyes situated more laterally in the face than normal. Microscopical examination of long bones of the limbs, bones of the base of the skull and vertebrae showed no lesions. Bones from four affected lambs and one control lamb were macerated for morphometric examination. Although the length of the spinal cord was similar, there was disproportionate shortening of the appendicular bones, particularly the distal segments. Thus the disease was defined as a skeletal dysplasia characterized by craniofacial deformity and disproportionate dwarfism. It is suggested that the disease is inherited as an incomplete dominant trait. The shortened face, which is a feature of the Cabugi breed, may represent the heterozygous state and the more severe, often lethal, dwarfism may occur in homozygotes.

Características fenotípicas do nanismo em pôneis neonatos: relato de casos / Phenotypic findings of dwarfism in newborn pony: cases report

Foram atendidos no Hospital Veterinário, três neonatos com características fenotípicas de nanismo, sendo dois Mini-Horses e um Pônei Brasileiro. Os animais apresentavam desproporcionalidade craniana, defeito de oclusão dentária e alterações osteo-musculares compatíveis com a anormalidade, como a deformação dos ossos metatarsianos e membros desproporcionalmente curtos. Ao exame radiográfico foram identificadas alterações fisárias de côndilos femorais e em epífise proximal dos terceiros ossos metatarsianos. Devido à elevada possibilidade de futuras complicações e perda da qualidade de vida, os animais foram submetidos à eutanásia. Ressalta-se a importância da divulgação e reconhecimento das alterações fenotípicas relacionadas como o nanismo em equinos, possibilitando que o diagnóstico possa direcionar os cruzamentos para a não transmissão desta anormalidade como herança genética.

Three newborn Mini-Horses and one Brazilian Pony horses were presented to the Veterinary Hospital with phenotypic appearance of dwarfism. They had relatively larger head conformation, occlusive dental defect and musculoskeletal changes such as abnormal short limbs and deformation on the third metatarsal bone. The radiographic examination showed abnormal growth plates on femoral condyle and proximal thirds metatarsal bones. Due to the high possibility of future complications and quality of life loss, the animals were euthanized. We emphasize the importance of recognition

Características fenotípicas do nanismo em pôneis neonatos: relato de casos / Phenotypic findings of dwarfism in newborn pony: cases report

Foram atendidos no Hospital Veterinário, três neonatos com características fenotípicas de nanismo, sendo dois Mini-Horses e um Pônei Brasileiro. Os animais apresentavam desproporcionalidade craniana, defeito de oclusão dentária e alterações osteo-musculares compatíveis com a anormalidade, como a deformação dos ossos metatarsianos e membros desproporcionalmente curtos. Ao exame radiográfico foram identificadas alterações fisárias de côndilos femorais e em epífise proximal dos terceiros ossos metatarsianos. Devido à elevada possibilidade de futuras complicações e perda da qualidade de vida, os animais foram submetidos à eutanásia. Ressalta-se a importância da divulgação e reconhecimento das alterações fenotípicas relacionadas como o nanismo em equinos, possibilitando que o diagnóstico possa direcionar os cruzamentos para a não transmissão desta anormalidade como herança genética.(AU)

Three newborn Mini-Horses and one Brazilian Pony horses were presented to the Veterinary Hospital with phenotypic appearance of dwarfism. They had relatively larger head conformation, occlusive dental defect and musculoskeletal changes such as abnormal short limbs and deformation on the third metatarsal bone. The radiographic examination showed abnormal growth plates on femoral condyle and proximal thirds metatarsal bones. Due to the high possibility of future complications and quality of life loss, the animals were euthanized. We emphasize the importance of recognition (AU)

Condrodisplasia em bovinos no Sul do Rio Grande do Sul / Chondrodysplasia in cattle in Southern Brazil

Descrevem-se 14 casos de condrodisplasia em bovinos. Os dados epidemiológicos e clínicos foram obtidos de protocolos de necropsia e o estudo histológico das lesões foi realizado em fragmentos de ossos longos e ossos da base do crânio dos 14 casos estudados. Onze casos eram de condrodisplasia tipo Telemark e três, tipo bulldog (Dexter). Treze dos 14 bovinos afetados eram da raça Jersey e um era da raça Shorthorn. Concluiu-se que o gene transmissor das condrodisplasias encontra-se presente na população Jersey da região e medidas, como utilização de reprodutores de outras regiões e/ou com teste de progênie ou identificação de genes indesejáveis por meio de técnicas moleculares, devem contribuir para diminuir a ocorrência destes casos na população Jersey da região.

Fourteen cases of chondrodysplasia in cattle are described. Epidemiological and clinical data were obtained from filed necropsy protocols. A histological study of the lesions was performed on long and skull base bones. Eleven cases of chondrodysplasia Telemark type and three Bulldog (Dexter) type were observed. Thirteen out of 14 cases occurred in Jersey cattle and one in Shorthorn. It was concluded that the gene carrier of chondrodysplasia is present in the Jersey population of the region, and breeding measures such as the use of bulls from other regions and/or progeny testing or identification of undesirable genes using molecular techniques should help reduce the occurrence of these cases in the Jersey population of the region.

Condrodisplasia em bovinos no Sul do Rio Grande do Sul / Chondrodysplasia in cattle in Southern Brazil

Descrevem-se 14 casos de condrodisplasia em bovinos. Os dados epidemiológicos e clínicos foram obtidos de protocolos de necropsia e o estudo histológico das lesões foi realizado em fragmentos de ossos longos e ossos da base do crânio dos 14 casos estudados. Onze casos eram de condrodisplasia tipo Telemark e três, tipo bulldog (Dexter). Treze dos 14 bovinos afetados eram da raça Jersey e um era da raça Shorthorn. Concluiu-se que o gene transmissor das condrodisplasias encontra-se presente na população Jersey da região e medidas, como utilização de reprodutores de outras regiões e/ou com teste de progênie ou identificação de genes indesejáveis por meio de técnicas moleculares, devem contribuir para diminuir a ocorrência destes casos na população Jersey da região. (AU)

Fourteen cases of chondrodysplasia in cattle are described. Epidemiological and clinical data were obtained from filed necropsy protocols. A histological study of the lesions was performed on long and skull base bones. Eleven cases of chondrodysplasia Telemark type and three Bulldog (Dexter) type were observed. Thirteen out of 14 cases occurred in Jersey cattle and one in Shorthorn. It was concluded that the gene carrier of chondrodysplasia is present in the Jersey population of the region, and breeding measures such as the use of bulls from other regions and/or progeny testing or identification of undesirable genes using molecular techniques should help reduce the occurrence of these cases in the Jersey population of the region. (AU)

Nanismo por deficiência combinada de hormônios pituitários emum cão Pastor Alemão / Dwarfism due to combined pituitary hormone deficiency in a Germ an Shepherd Dog

O nanismo hipofisário é uma condição rara caracterizada pela deficiência congênita do hormônio docrescimento (GH). No Pastor Alemão, a doença é transmitida por um gene autossômico recessivo e podeocorrer de forma isolada ou em conjunto com a deficiência de outros hormônios da adenohipófise. Opresente trabalho relata a evolução clínica de um cão pastor alemão com deficiência combinada de hormônioshipofisários. Além da estatura reduzida, o cão demonstrava retardo no desenvolvimento mental,macroglossia, pelagem de filhote e persistência dos dentes decíduos. As alterações bioquímicas incluíramhipercolesterolemia e hipertrigliceridemia. As dosagens séricas de IGF-1 (5,0 nmol/L – referência 4,0 a95,0), Tiroxina total (1,9 ng/mL – referência 15 a 30), Tiroxina livre por diálise de equilíbrio (0,04 ng/dL –referência 0,08 a 3,0) e Tireotropina (TSH) (0,05 ng/ml – referência 0,05 a 0,5) confirmaram o diagnósticode nanismo pituitário e hipotireoidismo secundário. Apesar do tratamento com hormônio tireoidiano, aausência de reposição do hormônio do crescimento resultou na progressão da doença e desenvolvimentode apatia, alopecia generalizada e hipotonia dérmica. Deficiências combinadas de GH e TSH já foramdescritas no Pastor Alemão em outros países, mas este parece ser o primeiro caso relatado no Brasil.

Pituitary dwarfism is a rare condition characterized by congenital deficiency of growth hormone (GH).In the German shepherd, GH deficiency is transmitted by an autosomal recessive gene and can occurisolated or combined with other pituitary hormones deficiencies. The present study describes the clinicalcourse of a German shepherd dog with combined pituitary hormone deficiency. Besides the stuntedgrowth, the dog showed delayed mental development, macroglossia, puppy hair coat and persistence ofdeciduous teeth. Biochemical abnormalities included hypercholesterolemia and hypertriglyceridemia.The serum levels of IGF-1 (5.0 nmol / L - reference 4.0 to 95.0), total thyroxine (1.9 ng / mL - reference15 to 30), free thyroxine by equilibrium dialysis (0, 04 ng / dL - reference 0.08 to 3.0) and thyrotropin(TSH) (0.05 ng / ml - reference 0.05 to 0.5) confirmed the diagnosis of pituitary dwarfism and secondaryhypothyroidism. Despite the thyroid hormone replacement, the absence of growth hormone treatmentresulted in disease progression and development of generalized alopecia and hypotonic skin. Combineddeficiencies of GH and TSH have been described in the German Shepherd in other countries, but thisseems to be the first report in Brazil.

Nanismo por deficiência combinada de hormônios pituitários emum cão Pastor Alemão / Dwarfism due to combined pituitary hormone deficiency in a Germ an Shepherd Dog

O nanismo hipofisário é uma condição rara caracterizada pela deficiência congênita do hormônio docrescimento (GH). No Pastor Alemão, a doença é transmitida por um gene autossômico recessivo e podeocorrer de forma isolada ou em conjunto com a deficiência de outros hormônios da adenohipófise. Opresente trabalho relata a evolução clínica de um cão pastor alemão com deficiência combinada de hormônioshipofisários. Além da estatura reduzida, o cão demonstrava retardo no desenvolvimento mental,macroglossia, pelagem de filhote e persistência dos dentes decíduos. As alterações bioquímicas incluíramhipercolesterolemia e hipertrigliceridemia. As dosagens séricas de IGF-1 (5,0 nmol/L referência 4,0 a95,0), Tiroxina total (1,9 ng/mL referência 15 a 30), Tiroxina livre por diálise de equilíbrio (0,04 ng/dL –referência 0,08 a 3,0) e Tireotropina (TSH) (0,05 ng/ml referência 0,05 a 0,5) confirmaram o diagnósticode nanismo pituitário e hipotireoidismo secundário. Apesar do tratamento com hormônio tireoidiano, aausência de reposição do hormônio do crescimento resultou na progressão da doença e desenvolvimentode apatia, alopecia generalizada e hipotonia dérmica. Deficiências combinadas de GH e TSH já foramdescritas no Pastor Alemão em outros países, mas este parece ser o primeiro caso relatado no Brasil.(AU)

Pituitary dwarfism is a rare condition characterized by congenital deficiency of growth hormone (GH).In the German shepherd, GH deficiency is transmitted by an autosomal recessive gene and can occurisolated or combined with other pituitary hormones deficiencies. The present study describes the clinicalcourse of a German shepherd dog with combined pituitary hormone deficiency. Besides the stuntedgrowth, the dog showed delayed mental development, macroglossia, puppy hair coat and persistence ofdeciduous teeth. Biochemical abnormalities included hypercholesterolemia and hypertriglyceridemia.The serum levels of IGF-1 (5.0 nmol / L - reference 4.0 to 95.0), total thyroxine (1.9 ng / mL - reference15 to 30), free thyroxine by equilibrium dialysis (0, 04 ng / dL - reference 0.08 to 3.0) and thyrotropin(TSH) (0.05 ng / ml - reference 0.05 to 0.5) confirmed the diagnosis of pituitary dwarfism and secondaryhypothyroidism. Despite the thyroid hormone replacement, the absence of growth hormone treatmentresulted in disease progression and development of generalized alopecia and hypotonic skin. Combineddeficiencies of GH and TSH have been described in the German Shepherd in other countries, but thisseems to be the first report in Brazil.(AU)

Sperm motility and viability in west African dwarf rams treated with Euphorbia hirta / Motilidad y viabilidad espermática en carneros enanos del oeste africano tratados con Euphorbia hirta

Four adult sexually matured and clinically healthy West African Dwarf (WAD) rams aged between 24 and 30 months were used for the study. The rams were first used as control and later as experimental animals upon being orally dosed with Euphorbia hirta extract at 400mg/kg body weight for 14 days. Semen samples were collected from the rams a day after the administration of the plant extra and seven days after. The objective of the study was to investigate the effect of Euphorbia hirta on the semen picture of WAD rams. There were significantly differences (P <0.05) in the semen picture as reflected in a reduction of sperm motility from 80% to 47.5% and live-dead ratio from 90.75% to 32.5% in the control and post-experimental stages of the study respectively. This indicates that the fertilization capacity and livability of spermatozoa were negatively affected. There were no significant differences in the values of body parameters measured across the stages of the study. The plant is therefore not recommended for medicinal purpose in male animals.

Cuatro carneros enanos adultos de África Occidental sexualmente maduros y clínicamente sanos, con edades comprendidas entre los 24 y 30 meses, fueron utilizados para este estudio. Los carneros fueron utilizados como control y, más tarde, como animales de experimentación al ser medicados por vía oral con extracto de Euphorbia hirta en 400mg/kg peso corporal durante 14 días. Se recogieron muestras de semen de los carneros un día después de la administración de la planta y siete días después. El objetivo del estudio fue investigar el efecto de Euphorbia hirta en las imágenes de esperma de carneros enanos África Occidental. Hubo diferencias significativas (P <0,05) en la imagen del semen como reflejo de una reducción de la motilidad espermática del 80% al 47,5% y un ratio de vivos-muertos de 90,75% a 32,5% en la etapa control y después de las fases experimentales del estudio, respectivamente. Esto indica que la capacidad de fertilización y calidad de vida de los espermatozoides fueron afectados negativamente. No hubo diferencias significativas en los valores de los parámetros corporales medidos a través de las etapas del estudio. La planta por tanto no es recomendable para fines medicinales en los animales machos.

Dwarfism in insular sloths: biogeography, selection, and evolutionary rate.

The islands of Bocas del Toro, Panama, were sequentially separated from the adjacent mainland by rising sea levels during the past 10,000 years. Three-toed sloths (Bradypus) from five islands are smaller than their mainland counterparts, and the insular populations themselves vary in mean body size. We first examine relationships between body size and physical characteristics of the islands, testing hypotheses regarding optimal body size, evolutionary equilibria, and the presence of dispersal in this system. To do so, we conduct linear regressions of body size onto island area, distance from the mainland, and island age. Second, we retroactively calculate two measures of the evolutionary rate of change in body size (haldanes and darwins) and the standardized linear selection differential, or selection intensity (i). We also test the observed morphological changes against models of evolution by genetic drift. The results indicate that mean body size decreases linearly with island age, explaining up to 97% of the variation among population means. Neither island area nor distance from the mainland is significant in multiple regressions that include island age. Thus, we find no evidence for differential optimal body size among islands, or for dispersal in the system. In contrast, the dependence of body size on island age suggests uniform directional selection for small body size in the insular populations. Although genetic drift cannot be discounted as the cause for this evolution in body size, the probability is small given the consistent direction of evolution (repeated dwarfism). The insular sloths show a sustained rate of evolution similar to those measured in haldanes over tens of generations, appearing to unite micro- and macroevolutionary time scales. Furthermore, the magnitude and rate of this example of rapid differentiation fall within predictions of theoretical models from population genetics. However, the linearity of the relationship between body size and island age is not predicted, suggesting that either more factors are involved than those considered here, or that theoretical advances are necessary to explain constant evolutionary rates over long time spans in new selective environments.