Preliminary characterization of a novel form of progressive retinal atrophy in the German Spitz dog associated with a frameshift mutation in GUCY2D.

OBJECTIVE: To describe the clinical, preliminary electroretinographic and optical coherence tomography features of a newly identified form of progressive retinal atrophy (PRA) in German Spitzes, and identify the causal gene mutation. ANIMALS: Thirty-three client-owned German Spitz dogs were included. PROCEDURES: All animals underwent a full ophthalmic examination, including vision testing. In addition, fundus photography, ERG, and OCT were performed. A DNA-marker-based association analysis was performed to screen potential candidate genes and the whole genomes of four animals were sequenced. RESULTS: Initial fundus changes were pale papilla and mild vascular attenuation. Oscillatory nystagmus was noted in 14 of 16 clinically affected puppies. Vision was impaired under both scotopic and photopic conditions. Rod-mediated ERGs were unrecordable in all affected dogs tested, reduced cone-mediated responses were present in one animal at 3 months of age and unrecordable in the other affected animals tested. Multiple small retinal bullae were observed in three clinically affected animals (two with confirmed genetic diagnosis). OCT showed that despite loss of function, retinal structure was initially well-preserved, although a slight retinal thinning developed in older animals with the ventral retina being more severely affected. Pedigree analysis supported an autosomal recessive inheritance. A mutation was identified in GUCY2D, which segregated with the disease (NM_001003207.1:c.1598_1599insT; p.(Ser534GlufsTer20)). Human subjects with GUCY2D mutations typically show an initial disconnect between loss of function and loss of structure, a feature recapitulated in the affected dogs in this study. CONCLUSION: We identified early-onset PRA in the German Spitz associated with a frameshift mutation in GUCY2D.

Epidemiological analysis of polytrauma patients with kidney injuries in a university hospital / Análise epidemiológica de politraumatizados com lesões renais em um hospital universitário

Objective: To analyze the characteristics of trauma patients with renal lesions treated at a university hospital in Curitiba. Methods: We conducted a retrospective, cross-sectional study guided by review of medical records of trauma victims who underwent surgical treatment. The variables analyzed were age, gender, mechanism of injury, degree of kidney damage, conduct individualized according to the degree of renal injury, associated injuries, complications and deaths. We classified lesions according to the American Association of Trauma Surgery (TSAA). Results: We analyzed 794 records and found renal lesions in 33 patients, with mean age 29.8 years, most (87.8%) being male. Penetrating trauma accounted for 84.8% of cases. The most common renal injuries were grade II (33.3%), followed by grade I (18.1%), III, IV and V. Nephrectomy treated 45.4% of injuries, 73.3% being total nephrectomy, and 45.4% by nephrorraphy. In 9% treatment was non-surgical. Only 12.1% of patients had isolated renal lesions. Complications ensued in 15.1% and mortality was 6.06%. Conclusion: The surgical approach was preferred due to penetrating trauma mechanism. We achieved low rates of complications and deaths, and neither case could be directly related to kidney damage, and there were patients with multiple lesions. In this sample, we could not observe a direct relationship between kidney damage and complications, deaths or the type of conduct employed.

Objetivo: analisar as características de pacientes vítimas de trauma, com lesões renais atendidos em um hospital universitário de Curitiba. Métodos: estudo transversal retrospectivo guiado por revisão de prontuários de vítimas de trauma submetidos ao tratamento cirúrgico. As variáveis analisadas foram idade, sexo, mecanismo de trauma, grau das lesões renais, conduta individualizada de acordo com o grau da lesão renal, lesões associadas, complicações e óbitos. As lesões foram classificadas de acordo com a Associação Americana de Cirurgia do Trauma (AAST). Resultados: foram analisados 794 prontuários, a lesão renal foi encontrada em 33 pacientes, a média de idade foi 29,8 anos, a maioria dos pacientes era (87,8%) do sexo masculino. O trauma penetrante foi responsável por 84,8% dos casos. As lesões mais frequentes foram as de grau II (33,3%), seguidas pelas lesões de grau I (18,1%) e pelas lesões de grau III, IV e V. Foram tratadas com nefrectomia, 45,4% das lesões, 73,3% por nefrectomia total e 45,4%, por nefrorrafia. Em 9% o tratamento não foi cirúrgico. Apenas 12,1% dos pacientes apresentaram lesões renais isoladas. Complicações foram observadas em 15,1% e a taxa de óbito foi 6,06%. Conclusão: a abordagem cirúrgica foi a preferencial devido ao mecanismo de trauma penetrante. Obtivemos baixos índices de óbitos e complicações, sendo que nenhum dos casos pôde ser relacionado diretamente à lesão renal, e ocorreram em pacientes com múltiplas lesões. Nesta amostra, não foi possível provar relação direta entre lesão renal e complicações, óbitos ou com o tipo de conduta empregada.

Epidemiological analysis of polytrauma patients with kidney injuries in a university hospital.

OBJECTIVE: To analyze the characteristics of trauma patients with renal lesions treated at a university hospital in Curitiba. METHODS: We conducted a retrospective, cross-sectional study guided by review of medical records of trauma victims who underwent surgical treatment. The variables analyzed were age, gender, mechanism of injury, degree of kidney damage, conduct individualized according to the degree of renal injury, associated injuries, complications and deaths. We classified lesions according to the American Association of Trauma Surgery (TSAA). RESULTS: We analyzed 794 records and found renal lesions in 33 patients, with mean age 29.8 years, most (87.8%) being male. Penetrating trauma accounted for 84.8% of cases. The most common renal injuries were grade II (33.3%), followed by grade I (18.1%), III, IV and V. Nephrectomy treated 45.4% of injuries, 73.3% being total nephrectomy, and 45.4% by nephrorraphy. In 9% treatment was non-surgical. Only 12.1% of patients had isolated renal lesions. Complications ensued in 15.1% and mortality was 6.06%. CONCLUSION: The surgical approach was preferred due to penetrating trauma mechanism. We achieved low rates of complications and deaths, and neither case could be directly related to kidney damage, and there were patients with multiple lesions. In this sample, we could not observe a direct relationship between kidney damage and complications, deaths or the type of conduct employed.