RESUMO
Background: Renal dysplasia is a congenital disorder that occurs during differentiation of the renal parenchyma or as aconsequence of a functional and/or structural obstruction of the lower urinary tract. In wild animals, this pathology has beenreported in cynomolgus monkeys (Macaca fascicularis), golden hamsters (Mesocricetus auratus) and African elephants(Loxodanta africana). However, there are no reports of the disease in the giant anteater (Myrmecophaga tridactyla). Thus,this paper describes a case of renal dysplasia in a free-living giant anteater cub, which was sent to the wild animal clinicof the Federal University of Mato Grosso (UFMT) in Cuiabá, MT, Brazil.Case: The rescued animal had a good body condition score and clinical parameters within the normal range for the species.After a routine clinical evaluation, the anteater cub was subjected to radiography and ultrasound tests. Blood tests, serumtests for hepatic and renal profiles, urinalysis, urinary protein creatinine ratio, and chest X-rays did not reveal significantchanges. However, the abdominal ultrasound examination revealed a volumetric loss of about 1.17 cm in length in theleft kidney, and a renal length to aortic artery diameter ratio of approximately 2.8. This kidney showed irregular contours,loss of corticomedullary demarcation, with preserved echogenicity and cortical echotexture. The right kidney showedthe standard size of the species, with a length of approximately 3.08 cm. In view of the suspicion of renal dysplasia, acontrast-enhanced CT scan was performed in order to assess the dynamics of uptake and excretion of the contrast mediumin the affected kidney and in the ipsilateral collecting system. An examination of the tomographic images indicated thatthe volume of the left kidney was reduced, isodense in relation to the right kidney, with discrete and homogeneous uptakein all phases after administration of the contrast medium, no occurrence of nephrogram...(AU)
Assuntos
Animais , Xenarthra/anormalidades , Nefropatias/veterinária , Ultrassonografia/veterinária , Tomografia/veterináriaRESUMO
Background: Renal dysplasia is a congenital disorder that occurs during differentiation of the renal parenchyma or as aconsequence of a functional and/or structural obstruction of the lower urinary tract. In wild animals, this pathology has beenreported in cynomolgus monkeys (Macaca fascicularis), golden hamsters (Mesocricetus auratus) and African elephants(Loxodanta africana). However, there are no reports of the disease in the giant anteater (Myrmecophaga tridactyla). Thus,this paper describes a case of renal dysplasia in a free-living giant anteater cub, which was sent to the wild animal clinicof the Federal University of Mato Grosso (UFMT) in Cuiabá, MT, Brazil.Case: The rescued animal had a good body condition score and clinical parameters within the normal range for the species.After a routine clinical evaluation, the anteater cub was subjected to radiography and ultrasound tests. Blood tests, serumtests for hepatic and renal profiles, urinalysis, urinary protein creatinine ratio, and chest X-rays did not reveal significantchanges. However, the abdominal ultrasound examination revealed a volumetric loss of about 1.17 cm in length in theleft kidney, and a renal length to aortic artery diameter ratio of approximately 2.8. This kidney showed irregular contours,loss of corticomedullary demarcation, with preserved echogenicity and cortical echotexture. The right kidney showedthe standard size of the species, with a length of approximately 3.08 cm. In view of the suspicion of renal dysplasia, acontrast-enhanced CT scan was performed in order to assess the dynamics of uptake and excretion of the contrast mediumin the affected kidney and in the ipsilateral collecting system. An examination of the tomographic images indicated thatthe volume of the left kidney was reduced, isodense in relation to the right kidney, with discrete and homogeneous uptakein all phases after administration of the contrast medium, no occurrence of nephrogram...
Assuntos
Animais , Nefropatias/veterinária , Xenarthra/anormalidades , Tomografia/veterinária , Ultrassonografia/veterináriaRESUMO
Background: Deformities of the anterior thoracic wall are called pectus: pectus excavatum and pectus carinatum. Pectusexcavatum is characterised by dorsal deviation of the caudal region of the sternum while pectus carinatum consists ofprotrusion of the sternum and/or adjacent cartilage. Both defects may remain symptom-free, but respiratory and cardiacabnormalities have been reported. Another deformity observed in dogs is the swimming dog syndrome, which consists ofthe lateral opening of the thoracic and pelvic limbs, associated with the pedalling movement. These disorders are frequentlyreported in medical practice, are considered rare among canines. This report aims to describe a case of pectus excavatumassociated with the swimming dog syndrome (Case 1) and another case of pectus carinatum (Case 2).Cases: Case 1. An approximately 45-day-old male American Pitbull canine had difficulty standing. Physical examinationrevealed hyperextension of the thoracic and pelvic limb joints and flattening of the thorax. After radiographic examination, pectus excavatum and the swimming dog syndrome were confirmed. The conservative treatment with splinting andhydrotherapy was chosen. At the 3-month follow-up, slight improvement in the limbs and irregular and unsatisfactorygrowth of the thorax leading to episodes of dyspnoea were observed. Case 2. A female Pug, approximately 2 months old,had a thorax deformity. Physical examination revealed thorax protrusion, confirmed on radiography as pectus carinatum.Conservative therapy was provided using compressive bandage. One month later, the tutor reported improvement in thecondition and absence of respiratory changes.Discussion: Pectus deformities has low incidence, and cases to pectus carinatum, there is a sexual predisposition, that is,males are more predisposed, differing from Case 2, a female dog. In the cases of pectus excavatum, no genetic alterationwas directly related to its occurrence...(AU)
Assuntos
Animais , Masculino , Cães , Pectus Carinatum/patologia , Pectus Carinatum/veterinária , Tórax em Funil/patologia , Tórax em Funil/veterinária , Parede Torácica/anormalidades , Dispneia/veterinária , Radiografia Torácica/veterináriaRESUMO
OBJECTIVE: To identify phenylalanine hydroxylase (PAH) mutations in patients with phenylketonuria (PKU) from the Newborn Screening Service in Mato Grosso, Midwest Brazil. METHODS: This is a cross-sectional descriptive study. The sample consisted of 19 PKU patients diagnosed by newborn screening. Molecular analysis: DNA extraction using the "salting-out" method. Detection of IVS10nt-11G>A, V388M, R261Q, R261X, R252W, and R408W mutations by the restriction fragment length polymorphism (RFLP) technique. RESULTS: Two mutant alleles were identified in four patients (21.1%), one allele in five patients (26.2%), and none in the remaining ten patients (52.6%). A total of 13/38 alleles were detected, corresponding to 34.2% of the PAH alleles present. The most prevalent variant was V388M (13.2% of the alleles), followed by R261Q (10.1%) and IVS10nt-11G>A (7.9%). Three variants (R261X, R252W, and R408W) were not found. The most frequent mutation types were: missense mutation in eight alleles (18.4%) and splicing in four alleles (10.5%). The model proposed by Guldberg to determine a genotype/phenotype correlation was applied to four classical PKU patients with two identified mutations. In three of them, the predicted moderate/moderate or moderate PKU phenotype did not coincide with the actual diagnosis. The prediction coincided with the diagnosis of one classic PKU patient. The estimated incidence of PKU for Mato Grosso, Brazil, was 1:33,342 live births from 2003 to 2015. CONCLUSION: The only mutations found in the analyzed samples were the IVS10nt-11G>A, V388M, and R261Q. The genotype/phenotype correlation only occurred in four (5.3%) patients.
Assuntos
Processamento Alternativo , Mutação de Sentido Incorreto , Fenilalanina Hidroxilase/genética , Fenilcetonúrias/genética , Alelos , Brasil , Criança , Pré-Escolar , Estudos Transversais , Análise Mutacional de DNA/métodos , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Triagem Neonatal , Fenótipo , Polimorfismo de Fragmento de RestriçãoRESUMO
Background: Deformities of the anterior thoracic wall are called pectus: pectus excavatum and pectus carinatum. Pectusexcavatum is characterised by dorsal deviation of the caudal region of the sternum while pectus carinatum consists ofprotrusion of the sternum and/or adjacent cartilage. Both defects may remain symptom-free, but respiratory and cardiacabnormalities have been reported. Another deformity observed in dogs is the swimming dog syndrome, which consists ofthe lateral opening of the thoracic and pelvic limbs, associated with the pedalling movement. These disorders are frequentlyreported in medical practice, are considered rare among canines. This report aims to describe a case of pectus excavatumassociated with the swimming dog syndrome (Case 1) and another case of pectus carinatum (Case 2).Cases: Case 1. An approximately 45-day-old male American Pitbull canine had difficulty standing. Physical examinationrevealed hyperextension of the thoracic and pelvic limb joints and flattening of the thorax. After radiographic examination, pectus excavatum and the swimming dog syndrome were confirmed. The conservative treatment with splinting andhydrotherapy was chosen. At the 3-month follow-up, slight improvement in the limbs and irregular and unsatisfactorygrowth of the thorax leading to episodes of dyspnoea were observed. Case 2. A female Pug, approximately 2 months old,had a thorax deformity. Physical examination revealed thorax protrusion, confirmed on radiography as pectus carinatum.Conservative therapy was provided using compressive bandage. One month later, the tutor reported improvement in thecondition and absence of respiratory changes.Discussion: Pectus deformities has low incidence, and cases to pectus carinatum, there is a sexual predisposition, that is,males are more predisposed, differing from Case 2, a female dog. In the cases of pectus excavatum, no genetic alterationwas directly related to its occurrence...
Assuntos
Masculino , Animais , Cães , Parede Torácica/anormalidades , Pectus Carinatum/patologia , Pectus Carinatum/veterinária , Tórax em Funil/patologia , Tórax em Funil/veterinária , Dispneia/veterinária , Radiografia Torácica/veterináriaRESUMO
ABSTRACT Objective: To identify phenylalanine hydroxylase (PAH) mutations in patients with phenylketonuria (PKU) from the Newborn Screening Service in Mato Grosso, Midwest Brazil. Methods: This is a cross-sectional descriptive study. The sample consisted of 19 PKU patients diagnosed by newborn screening. Molecular analysis: DNA extraction using the "salting-out" method. Detection of IVS10nt-11G>A, V388M, R261Q, R261X, R252W, and R408W mutations by the restriction fragment length polymorphism (RFLP) technique. Results: Two mutant alleles were identified in four patients (21.1%), one allele in five patients (26.2%), and none in the remaining ten patients (52.6%). A total of 13/38 alleles were detected, corresponding to 34.2% of the PAH alleles present. The most prevalent variant was V388M (13.2% of the alleles), followed by R261Q (10.1%) and IVS10nt-11G>A (7.9%). Three variants (R261X, R252W, and R408W) were not found. The most frequent mutation types were: missense mutation in eight alleles (18.4%) and splicing in four alleles (10.5%). The model proposed by Guldberg to determine a genotype/phenotype correlation was applied to four classical PKU patients with two identified mutations. In three of them, the predicted moderate/moderate or moderate PKU phenotype did not coincide with the actual diagnosis. The prediction coincided with the diagnosis of one classic PKU patient. The estimated incidence of PKU for Mato Grosso, Brazil, was 1:33,342 live births from 2003 to 2015. Conclusion: The only mutations found in the analyzed samples were the IVS10nt-11G>A, V388M, and R261Q. The genotype/phenotype correlation only occurred in four (5.3%) patients.
RESUMO Objetivo: Identificar mutações da fenilalanina hidroxilase (PAH) em pacientes com PKU (fenilcetonúria) do Serviço de Triagem Neonatal em Mato Grosso. Métodos: Estudo de corte transversal. Amostra composta de 19 pacientes com PKU através do exame de triagem neonatal biológica. Análise molecular: a) extração de DNA pela metodologia "salting out". B) detecção de mutações IVS10nt-11G>A, V388M, R261Q, R261X, R252W e R408W pela técnica de polimorfismo de comprimento de fragmento de restrição (RFLP). Resultados: Dois alelos foram identificados em quatro pacientes (21,1%), um alelo em cinco pacientes (26,2%) e nenhum nos dez pacientes restantes (52,6%). Um total de 13/38 alelos foram identificados, correspondendo a 34,2% dos alelos PAH presentes. A variante mais prevalente foi a V388M (13,2% dos alelos), seguida de R261Q (10,1%) e IVS10nt-11G>A (7,9%). Três variantes (R261X, R252W e R408W) não foram encontradas. Os tipos de mutações mais frequentes foram: troca de sentido em oito alelos (18,4%) e emenda em quatro alelos (10,5%). O modelo proposto por Guldberg para determinar uma correlação genótipo/fenótipo foi aplicado para quatro pacientes clássicos de PKU, com duas mutações identificadas. Em três, o fenótipo previsto de PKU moderada/moderada ou moderada não coincidiu com o diagnóstico real. A predição coincidiu com o diagnóstico de um paciente PKU clássico. A incidência de PKU estimada para Mato Grosso, Brasil foi de 1:33.342 nascidos vivos para o período de 2003 a 2015. Conclusões: Foram encontradas apenas as mutações IVS10nt-11G>A, V388M, R261Q nas amostras analisadas. A correlação genótipo/fenótipo ocorreu em quatro (5,3%) pacientes.