RESUMO
O Schistosomus reflexus (SR) é uma anomalia congênita fatal de baixa incidência observada principalmente em ruminantes. O objetivo deste estudo foi relatar a ocorrência de SRem uma vaca com um quadro de distocia, multípara e de partos anteriores normais, atendida em uma propriedade localizada em Irati, região Centro-Sul do Paraná, Brasil. Durante a anamnese, foi relatado que o trabalho de parto ocorreu normalmente, com dilatação cervical e rompimento da bolsa alantoidiana e amniótica. Contudo, não ouve exteriorização do feto. Devido à inviabilidade da tração forçada observada no exame físico, optou-se pela cesariana. O feto extraído era disforme, apresentando dorsoflexão da coluna vertebral, órgãos abdominais expostos, anquilose de membros e face deformada, as quais são alterações anatômicas compatíveis com as características de Schistosomus reflexusdescritas na literatura. O caso apresentado contribui de forma relevante para o aprimoramento da compreensão e estudos sobre esse distúrbio, uma vez que sua ocorrência é rara.
Schistosomus reflexus (SR) is a fatal congenital anomaly of low incidence mainly observed in ruminants. This study aimed to report the occurrence of SR in a cow with dystocia, multiparous, and normal previous deliveries, treated in a property located in Irati, south-central region of Paraná, Brazil. During anamnesis, it was reported that labor occurred normally, with cervical dilation and disruption of the allantoic and amniotic stalk. However, there was no externalization of the fetus. Due to the infeasibility of the forced traction observed in the physical examination, a cesarean was performed. The extracted fetus was misshaped, presenting dorsiflexion of the spine, exposed abdominal organs, ankylosis of limbs, and deformed face, which are anatomical alterations compatible with the characteristics of Schistosomus reflexus described in the literature. The case reported contributes significantly to the improvement of understanding and studies on this disorder, since its occurrence is rare.
Assuntos
Animais , Bovinos , Anormalidades Múltiplas/veterinária , Vísceras/anormalidades , Distocia/veterinária , Anquilose/veterinária , Natimorto/veterináriaRESUMO
This report describes multiple congenital malformations found in three dog litters delivered by emergency caesarean section. In all of the litters, some puppies were born alive but were euthanized because of the seriousness of their malformations and low probability of survival. In two litters, gastroschisis was associated with amelia of the right anterior limb. Other malformations such as anencephaly were also found in three puppies among the different litters. This report describes the morphological findings of the affected puppies, discusses the most appropriate terminologies for each case and highlights the importance of an epidemiological survey to identify potential factors associated with the cases.
Assuntos
Anormalidades Múltiplas/veterinária , Doenças do Cão/congênito , Anencefalia/veterinária , Animais , Animais Recém-Nascidos , Cesárea/veterinária , Cães , Ectromelia/veterinária , Feminino , Gastrosquise/veterinária , GravidezRESUMO
Schistosomus reflexus syndrome (SR) is a rare and lethal congenital malformation that has been reported in the olive ridley sea turtle (Lepidochelys olivacea) in Mexico. Although the etiology remains unclear, it is presumed to be genetic. Since embryonic development in sea turtles largely depends on environmental conditions, we investigated whether sea turtle total mercury content participates in the etiology of SR. Given that several toxins are known to affect both DNA methylation and/or mitochondrial DNA (mtDNA) copy number, we also probed for associations of these parameters to SR and mercury exposure. We measured the levels of each variable in malformed olive ridley sea turtle embryos (either with SR or other non-SR malformations) and embryos without malformations. Malformed embryos (with or without SR) showed higher mercury concentrations compared to normal embryos, while only embryos with SR showed higher levels of methylation compared to embryos without malformations and those with other malformations. Furthermore, we uncovered a positive correlation between mercury concentrations and DNA methylation in SR embryos. With respect to mtDNA copy number, no differences were detected across experimental groups. Because of sample size limitations, this study is an initial attempt to understand the association of environmental toxins (such as mercury) and epigenetic alterations (DNA methylation) in the etiology of SR in sea turtles.
Assuntos
Anormalidades Múltiplas/veterinária , Mercúrio/análise , Tartarugas/anormalidades , Animais , Variações do Número de Cópias de DNA , Dano ao DNA/efeitos dos fármacos , Metilação de DNA , DNA Mitocondrial/genética , Espécies em Perigo de Extinção , Exposição Ambiental , Feminino , Mercúrio/toxicidade , Síndrome , Tartarugas/embriologia , Tartarugas/genéticaRESUMO
The olive ridley sea turtle ( Lepidochelys olivacea), considered the most abundant sea turtle species, is listed as vulnerable on the International Union for Conservation of Nature Red List. The most important nesting areas are located in the Eastern Pacific, and congenital malformations have been previously reported in this species. The present study was conducted in a single population at El Verde beach, one of the most important nesting beaches for the species in the northwestern Mexican Pacific. The study was based on embryos that had been incubated in a controlled environment. Schistosomus reflexus syndrome (SRS) was observed in 124 of 20 257 olive ridley embryos (0.6%), comprising 124 of 400 (31%) cases of congenital malformations over a 7-month period. Affected embryos had malformations of the carapace, bridge, or plastron, resulting in exposure of the abdominal or thoracic viscera, as well as spinal malformation and abnormal positioning of limbs adjacent to the head with subsequent ankylosis. SRS phenotypes (although lethal) varied from mild to severe, although most cases were severe. SRS was mostly associated with congenital malformations in the neck (short neck, 80%), tail (anury, 38%), and flippers (different types of dysmelias, 53%). In most cases of severe SRS, ankyloses were present. Documenting these findings could be important to identify the cause of the developmental defects, and identification of the cause of the defects may be of significance to the population and to our efforts to manage this and other populations at risk.
Assuntos
Tartarugas/anormalidades , Anormalidades Múltiplas/patologia , Anormalidades Múltiplas/veterinária , Animais , Feminino , México , Oceano Pacífico , Síndrome , Tartarugas/embriologiaRESUMO
BACKGROUND: Mucopolysaccharidoses (MPS) are common lysosomal storage disorders causing typically progressive skeletal and ocular abnormalities. OBJECTIVES: To describe the clinic features, metabolic profile and a unique mutation in a domestic shorthair (DSH) kitten with MPS VII. ANIMALS: Affected kitten and 80 healthy cats. METHODS: Serum lysosomal enzyme activities and urinary glycosaminoglycan (GAG) accumulation were assessed. Exons of the ß-glucuronidase gene (GUSB) were sequenced from genomic DNA and genotyping was conducted. RESULTS: A 3-month-old DSH cat was presented for stunted growth, paresis, facial dysmorphia, multiple skeletal deformities, and corneal opacities. Evaluation of blood smears disclosed metachromatic granules in leukocytes and a urinary mucopolysaccharide spot test was positive. The proband had no GUSB activity but normal or increased activities for other lysosomal enzymes. Sequencing of the GUSB gene from the proband and comparison to the sequence of 2 healthy cats and the published feline genome sequence demonstrated 2 unique single base transitions (c.1421T>G and c.1424C>T) in exon 9, altering 2 adjacent codons (p.Ser475Ala and p.Arg476Trp). These amino acid changes are in a highly conserved domain of the GUSB protein and nontolerable to maintain function. Moreover, the p.Arg476Trp mutation previously has been identified in human patients. None of the other clinically healthy cats had these mutations. CONCLUSIONS AND CLINIC IMPORTANCE: The diagnostic approach to MPS disorders is delineated. This is only the second mutation known to cause MPS VII in cats. Similarly, 2 different mutations have been described in MPS VII dogs, thereby showing the molecular heterogeneity of MPS VII in companion animals.
Assuntos
Doenças do Gato/genética , Glucuronidase/genética , Mucopolissacaridose VII/veterinária , Mutação de Sentido Incorreto/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/veterinária , Animais , Gatos/genética , Feminino , Genes/genética , Mucopolissacaridose VII/genética , Análise de Sequência de DNA/veterináriaRESUMO
A 2-day-old poodle puppy was seen to have hypoplastic and arthrogrypotic hindlimbs and no tail. Palpation revealed an absence of lumbar and sacral vertebrae. At necropsy examination, the colon had a blind ending at the umbilical area, there were no urinary system organs, the spinal cord ended at the thoracic level and no genital system organs were found except for a structure similar to a rudimentary penis. The pelvis was abnormal with no articulation with the spine. This congenital anomaly was consistent with perosomus elumbis, a rare condition of unknown aetiology with few reported cases.
Assuntos
Anormalidades Múltiplas/veterinária , Artrogripose/veterinária , Doenças do Cão/patologia , Anormalidades Múltiplas/patologia , Animais , Animais Recém-Nascidos , Artrogripose/patologia , Cães , Membro Posterior/anormalidades , Vértebras Lombares/anormalidades , Masculino , Sacro/anormalidades , Medula Espinal/anormalidades , Coluna Vertebral/anormalidades , Cauda/anormalidadesRESUMO
A 3-year-old, female mixed-breed dog had malformations of both thoracic limbs and the vertebral column. Radiographs of the forelimbs showed bilateral development of 2 digits and aplasia of 3 carpal bones. Kyphosis, scoliosis, and deformed vertebrae were present in the thoracolumbar vertebral column.
Assuntos
Doenças do Cão/diagnóstico , Cães/anormalidades , Cifose/veterinária , Escoliose/veterinária , Anormalidades Múltiplas/veterinária , Animais , Doenças do Cão/patologia , Cães/anatomia & histologia , Feminino , Dedos/anormalidades , Dedos/patologia , Membro Anterior/anormalidades , Membro Anterior/anatomia & histologia , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/patologia , Deformidades Congênitas da Mão/veterinária , Cifose/diagnóstico , Cifose/patologia , Deformidades Congênitas dos Membros , Escoliose/diagnóstico , Escoliose/patologia , Coluna Vertebral/anormalidades , Coluna Vertebral/anatomia & histologia , Vértebras TorácicasRESUMO
Cleft lip (with or without cleft palate) has been documented in several species of nonhuman primates, which in general are susceptible at similar doses and stages of gestation to the same teratogens as humans. Cleft lip can be unilateral or bilateral, isolated, syndromic, familial, or genetic. Here we report the first case of syndromic cleft lip and palate in a male bare-eared squirrel monkey (Saimiri ustus). Associated with the orofacial clefts, the monkey manifested absence of bones, malformation of vertebrae L3, only 4 fingers in each hand, and shortening of tendons leading to inflection of the hands and fingers. Previous reports describing cleft lip and palate in other squirrel monkeys (Saimiri sciureus) in other breeding units have suggested consanguineous mating as a possible cause. Although the etiology in the case we present is unknown, we discuss factors associated with orofacial clefts in humans and various nonhuman primates.
Assuntos
Anormalidades Múltiplas/veterinária , Fenda Labial/veterinária , Fissura Palatina/veterinária , Doenças dos Macacos/patologia , Saimiri/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/patologia , Animais , Fenda Labial/complicações , Fenda Labial/patologia , Fissura Palatina/complicações , Fissura Palatina/patologia , Masculino , Doenças dos Macacos/diagnóstico por imagem , Doenças dos Macacos/etiologia , RadiografiaRESUMO
We describe a female domestic cat with apparent VATER/VACTERL association, including vertebral abnormalities, anal atresia, radial agenesis, and cardiovascular and renal defects. If we consider the acronym VATER, this cat had a triad (VAR); however, if we consider the extended acronym VACTERL, she had a pentad (VACRL).
Assuntos
Anormalidades Múltiplas/veterinária , Doenças do Gato/genética , Anormalidades Múltiplas/genética , Animais , Anus Imperfurado/genética , Anus Imperfurado/veterinária , Ossos da Extremidade Superior/anormalidades , Gatos , Feminino , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/veterinária , Humanos , Rim/anormalidades , Especificidade da Espécie , Coluna Vertebral/anormalidades , SíndromeRESUMO
This work characterized the effects of albendazole sulphoxide (ABZSO) on placental and fetal parameters in Wistar rats on day 20 of gestation. ABZSO was fed in laboratory chow at 0, 2.5, 5, 10, 20 or 30 mg/kg/d from day 6 to 15 of gestation to pregnant rats. Data of resorptions, placental and fetal characteristics and fetal skeletal malformations were recorded. Resorption percentages in the 20 and 30 mg/kg/d groups were significantly higher compared to the control group. Placentas of ABZSO-treated rats had lower weight and smaller size than untreated rats. The fetal weight and size were lower in the 5 mg/kg/d dose compared to no treatment. In the 5, 10 and 20 mg/kg/d groups, reductions in ossification process were observed. ABZSO induced malformations and/or fetal death when orally administered to pregnant rats. This data contributes to characterization of the reproductive toxicity of ABZSO, the main active metabolite of albendazole.
Assuntos
Albendazol/análogos & derivados , Albendazol/toxicidade , Anti-Helmínticos/toxicidade , Feto/efeitos dos fármacos , Placenta/efeitos dos fármacos , Anormalidades Múltiplas/induzido quimicamente , Anormalidades Múltiplas/veterinária , Administração Oral , Albendazol/administração & dosagem , Animais , Anti-Helmínticos/administração & dosagem , Relação Dose-Resposta a Droga , Feminino , Deformidades Congênitas dos Membros/induzido quimicamente , Deformidades Congênitas dos Membros/veterinária , Gravidez , Ratos , Ratos WistarRESUMO
A case of cephalothoracopagus in sheep complicated with several defects of skeletal, cardiovascular, respiratory, gastrointestinal, and urogenital systems is reported.
Assuntos
Anormalidades Múltiplas/veterinária , Ovinos/anormalidades , Gêmeos Unidos/patologia , Anormalidades Múltiplas/patologia , Animais , Cabeça/anormalidades , Cabeça/patologia , Tórax/anormalidades , Tórax/patologia , Trinidad e TobagoRESUMO
A case of cephalothoracopagus in sheep complicated with several defects of skeletal, cardiovascular, respiratory, gastrointestinal, and urogenital systems is reported.