Subtelomeric region of chromosome 2 in patients with autism spectrum disorders

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. ©FUNPEC-RP.

Estudo retrospectivo dos procedimentos anestésicos realizados em cães e gatos submetidos a neurocirurgias

Neurosurgeries are frequent in the routine of veterinary hospitals and, therefore, knowledge of the different anesthetic protocols to be used for each patient is necessary to prevent the morbity and mortality in the after and trans-surgical period. The objectives of this study were to evaluate the anesthetic protocols used in patients undergoing neurosurgeries; the results of those protocols; the rate of complications, and if those complications are related to the duration of the anesthesia time. We studied the anesthetical data of 52 dogs and two cats submitted to neurosurgery between January of 2003 and December of 2006, in the Veterinary Hospital of UEL. Findings showed that the main protocols used were propofol for induction and halothane or isofluorane for maintenance of the anesthesia. These protocols induced adequate anesthesia for the surgical procedure and did not occur complications during the anesthetic period in 37/54 (68,5%) of the cases. 7/19 (36.8%) of the complications observed occurred in patients submitted to anesthesia with halothane and 8/32 (25.2%) in patients with isofluorane. The complication most observed in this study was bradicardy, which occurred in 15/54 (27.8%) of the patients. Two deaths occurred in patients submitted to slot cervical. Good knowledge of the neurological disease and of surgical and anesthetic techniques are essential to prevent alterations in the central nervous system caused by the drugs, disease or association of these factors.