RESUMO
Autism spectrum disorders are severe psychiatric diseases commonly identified in the population. They are diagnosed during childhood and the etiology has been much debated due to their variations and complexity. Onset is early and characterized as communication and social interaction disorders and as repetitive and stereotyped behavior. Autistic disorders may occur together with various genetic and chromosomal diseases. Several chromosomal regions and genes are implicated in the predisposition for these diseases, in particular those with products expressed in the central nervous system. There are reports of autistic and mentally handicapped patients with submicroscopic subtelomeric alterations at the distal end of the long arm of chromosome 2. Additionally, there is evidence that alterations at 2q37 cause brain malformations that result in the autistic phenotype. These alterations are very small and not identified by routine cytogenetics to which patients are normally submitted, which may result in an underestimation of the diagnosis. This study aimed at evaluating the 2q37 region in patients with autistic disorders. Twenty patients were studied utilizing the fluorescence in situ hybridization technique with a specific probe for 2q37. All of them were also studied by the GTC banding technique to identify possible chromosomal diseases. No alterations were observed in the 2q37 region of the individuals studied, and no patient presented chromosomal diseases. This result may be due to the small sample size analyzed. The introduction of routine analysis of the 2q37 region for patients with autistic disorders depends on further studies.
Assuntos
Transtorno Autístico/genética , Cromossomos Humanos Par 2/genética , Criança , Transtornos Globais do Desenvolvimento Infantil/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 2/ultraestrutura , Análise Citogenética , Predisposição Genética para Doença , Humanos , Hibridização in Situ Fluorescente , Metáfase/genética , Telômero/genéticaRESUMO
Autism spectrum disorders are severe psychiatric diseases commonly identified in the population. They are diagnosed during childhood and the etiology has been much debated due to their variations and complexity. Onset is early and characterized as communication and social interaction disorders and as repetitive and stereotyped behavior. Austistic disorders may occur together with various genetic and chromosomal diseases. Several chromosomal regions and genes are implicated in the predisposition for these diseases, in particular those with products expressed in the central nervous system. There are reports of autistic and mentally handicapped patients with submicroscopic subtelomeric alterations at the distal end of the long arm of chromosome 2. Additionally, there is evidence that alterations at 2q37 cause brain malformations that result in the autistic phenotype. These alterations are very small and not identified by routine cytogenetics to which patients are normally submitted, which may result in an underestimation of the diagnosis. This study aimed at evaluating the 2q37 region in patients with autistic disorders. Twenty patients were studied utilizing the fluorescence in situ hybridization technique with a specific probe for 2q37. All of them were also studied by the GTC banding technique to identify possible chromosomal diseases. No alterations were observed in the 2q37 region of the individuals studied, and no patient presented chromosomal diseases. This result may be due to the small sample size analyzed. The introduction of routine analysis of the 2q37 region for patients with autistic disorders depends on further studies.
Assuntos
Humanos , Masculino , Feminino , Criança , /genética , Transtorno Autístico/genética , Aberrações Cromossômicas , Análise Citogenética , /ultraestrutura , Predisposição Genética para Doença , Hibridização in Situ Fluorescente , Metáfase , Telomerase/genética , Transtornos Globais do Desenvolvimento Infantil/genéticaRESUMO
Little has been published on intraocular metastasis of transmissible venereal tumors (TVT) in dogs. This report presents a 4-year-old male Labrador Retriever with a previous history of subcutaneous TVT which underwent total remission after treatment with vincristine. The dog presented with clinical signs of uveitis and increased intraocular pressure (IOP) in both eyes. After enucleation of the left eye, a diagnosis of TVT was made based on morphology, histology and immunohistochemistry (IHC). IHC staining for vimentin, S-100 protein, cytokeratin and HMB45 was performed to differentiate this lesion from TVT, lymphoma, melanoma, carcinomas, neurogenic tumors and fibrosarcoma. The IHC findings supported the diagnosis of TVT for this round cell tumor.
