Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

Congenital ataxia with cerebellar hypoplasia is a heterogeneous group of disorders that presents with motor disability, hypotonia, incoordination, and impaired motor development. Among these, disequilibrium syndrome describes a constellation of findings including nonprogressive cerebellar ataxia, mental retardation, and cerebellar hypoplasia following an autosomal recessive pattern of inheritance and can be caused by mutations in the Very Low Density Lipoprotein Receptor (VLDLR). Interestingly, while the majority of patients with VLDLassociated cerebellar hypoplasia in the literature use bipedal gait, the previously reported patients of Turkish decent have demonstrated similar neurological sequelae, but rely on quadrupedal gait. We present a consanguinous Turkish family with two siblings with cerebellar atrophy, predominantly frontal pachygyria and ataxic bipedal gait, who were found to have a novel homozygous deletion in the VLDLR gene identified by using high-density single nucleotide polymorphism microarrays for homozygosity mapping and identification of CNVs within these regions. Discovery of disease causing homozygous deletions in the present Turkish family capable of maintaining bipedal movement exemplifies the phenotypic heterogeneity of VLDLRassociated cerebellar hypoplasia and ataxia. © Springer-Verlag 2010

Comparison of extensive and intensive pig production systems in Uruguay in terms of ethologic, physiologic and meat quality parameters

[EN] The objective of this work is to characterize two contrasting systems of fattening pigs in Uruguay. A total of 96 pigs (average 41.7 kg) were divided into eight groups of 12 animals, representing two production systems: (IN) pigs confined in pens of 12 m2 or (OUT) kept in plots with field shelters and access to pasture. Behavioral observations were performed by scan sampling at 5-minute intervals, three times a day during weeks 6, 8, 10 and 12 of the experiment. Aggressions were also observed at the end of the experimental period. Blood samples were taken for cortisol analysis and other physiological parameters, during growth period and slaughter and meat quality characteristics were assessed after slaughter. Differences were found in carcass characteristics, wherein IN presented a higher dorsal fat. These animals presented an overall lower activity and spent less time resting, with a stable pattern throughout the day. In OUT, pigs usually rested at midday hours, more active in the morning and afternoon. The number of total reciprocal aggressions in the observation period was 4.2±3.7 for IN and 2.3±2.2 for OUT. Cortisol levels and biochemical profile did not show evidence of important problems in the animals. Welfare is not compromised in any of the systems, although higher levels of cortisol and aggressions could be indicating some stress problems in the confinement system. Meat characteristics in OUT were considered better than in IN from a nutritional point of view.Blumetto, O.; Calvet Sanz, S.; Estellés Barber, F.; Villagrá García, A. (2013). Comparison of extensive and intensive pig production systems in Uruguay in terms of ethologic, physiologic and meat quality parameters. REVISTA BRASILEIRA DE ZOOTECNIA-BRAZILIAN JOURNAL OF ANIMAL SCIENCE. 42(7):521-529. doi:10.1590/S1516-35982013000700009S52152942

The organizational socialization process: Review and development of a social capital model

10.1177/0149206310384630Journal of Management371127-152JOMA