Imunidade passiva, ingestão de colostro e mortalidade em cabritos Moxotó criados em sistemas extensivo e intensivo Passive immunity, colostrum ingestion, and mortality of Moxotó kids raised under extensive and intensive breeding systems

Dosou-se a proteína sérica total para avaliar a aquisição de imunidade passiva em cabritos Moxotó. Para tal, formaram-se quatro grupos experimentais, sendo dois sistemas de criação, extensivo e intensivo, e dois manejos de colostro, ingestão natural e artificial. Tanto no sistema intensivo quanto no extensivo, os teores de proteína no soro foram significativamente mais altos nos animais com ingestão natural de colostro, 7,11±0,2g/dL, do que nos com ingestão artificial, 6,35±0,17g/dL. Independentemente da forma de ingestão de colostro, os cabritos do sistema intensivo tiveram teores de proteína sérica total, 7,21±0,19g/dL, mais elevados que os do sistema extensivo, 6,25±0,18g/dL, no entanto a imunidade passiva foi satisfatória nos dois grupos de animais. Ocorreu alta mortalidade de crias no sistema extensivo, 37%, devido ao complexo hipotermia/inanição em decorrência dos baixos níveis de colostro ingeridos. No sistema intensivo de criação não ocorreu mortalidade de cabritos. A produção de colostro das cabras criadas intensivamente, 163,5±14,71mL, foi mais alta que das cabras criadas extensivamente, 53,75±19,12mL. O peso total dos cabritos foi semelhante nos dois sistemas de criação, 2881±252,78g no sistema extensivo, e 2297±194,59g no sistema intensivo. Conclui-se que a ingestão de colostro nos dois sistemas de produção permitiu adequada aquisição de imunidade em cabritos, porém o sistema extensivo determinou severa deficiência nutricional nas mães, com baixa produção de colostro e graves perdas de neonatos.<br>The acquisition of passive immunity in Moxotó kids was determined by dosages of total serum proteins. Four experimental groups were formed in two breeding systems - extensive and intensive - and two managements of colostrum intake - suckling from the mother or supplying in bottles. In both breeding systems, the serum protein levels were significantly higher in kids with natural ingestion of colostrum, 7.11±0.2g/dL, than in kids with artificial ingestion, 6.35±0.17g/dL. The kids of the intensive system had levels of total serum protein of 7.21±0.19 g/dL which was higher than the one of the extensive breeding system, 6.25±0.18g/dL. However, the passive immunity was satisfactory in all groups. There was high mortality of kids, 37%, due to starvation/hypothermia, in the extensive breeding system. This mortality was apparently due to the low levels of colostrum ingestion, 55.83±8.7mL. The production of colostrum by does from intensive breeding sistem, 163.5±14.71mL, was significantly higher than those from extensive breeding system, 53.75±19.12mL. The total weight of the kids born in the extensive breeding system, 2,881±252.78g, was similar to those born in the intensive breeding system, 2,297±194.59g. The colostrum ingestion allowed appropriate immunity acquisition by kid raised under both systems. However, the extensive breeding system determined a severe nutritional deficiency in the does with low colostrum production and high neonatal losses

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because of the quickness and affordability of the method. To evaluate the usefulness of NGS in genetic diagnosis, we present the genetic study of RTT-like patients using different techniques based on this technology. We studied 1577 patients with RTT-like clinical diagnoses and reviewed patients who were previously studied and thought to have RTT genes by Sanger sequencing. Genetically, 477 of 1577 patients with a RTT-like suspicion have been diagnosed. Positive results were found in 30% by Sanger sequencing, 23% with a custom panel, 24% with a commercial panel and 32% with whole exome sequencing. A genetic study using NGS allows the study of a larger number of genes associated with RTT-like symptoms simultaneously, providing genetic study of a wider group of patients as well as significantly reducing the response time and cost of the study