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1.  Early identification of autism in fragile X syndrome: a review 
Fragile X syndrome (FXS) is the leading genetic cause of autism, accounting for approximately 5% of autism cases with as many as 50% of individuals with FXS meeting DSM-IV-TR criteria for autistic disorder. Both FXS and idiopathic autism (IA) are attributed to genetic causes; however, FXS is an identified single gene disorder whereas autism is a complex disorder with multiple potential causes, some of which have been identified. Studies in IA have focused on the prospective longitudinal examination of infant siblings of children with autism as a target group due to their high risk of developing the disorder. We propose that this same model be applied to the study of infants with FXS. There is a lack of research focusing on the early development of autism within FXS and debate in the literature regarding how to best conceptualise this co-morbidity or whether it should be considered a co-morbid condition at all. Studying the emergence and stability of autism in infants with FXS has multiple benefits such as clarifying the underlying mechanisms of the development of autism in FXS and solidifying similarities and differences between co-morbid FXS with autism and IA. Infant research in both IA and FXS are discussed as well as conclusions and implications for practice and future research.
PMCID: PMC4023162  PMID: 22974167
autism; fragile X; intellectual disability; methodology in research
3.  The Catabolism of Plasma Albumin in the Rabbit  
The Journal of General Physiology  1959;43(2):445-453.
From I131-albumin studies and previously defined mathematical formulations, rates of breakdown were estimated for native plasma albumin in rabbits. These rates of catabolism per unit weight of animal were remarkably constant and were independent of variations in the steady state values of albumin concentration in the plasma. These results imply that, at least between animals, the breakdown of plasma albumin follows a kinetic process of approximately zero order. It seems plausible that the process operates similarly in individual animals, and hence that albumin is maintained at normal steady state levels in the healthy animal primarily by means of a regulated rate of synthesis.
PMCID: PMC2194984  PMID: 14436923
4.  The Kinetics of the Distribution and Breakdown of I131-Albumin in the Rabbit  
The Journal of General Physiology  1959;43(2):415-444.
Rabbit plasma albumin was labelled with I131, injected intravenously, and measurements were made of the radioactivity in plasma, urine, and feces over many days. In some experiments plasma radioactivity was fractionated into I131-albumin activity and that of labelled breakdown products. Curves of these radioactivities were compared with corresponding curves predicted by four mathematical models. Each model included a vascular and extravascular albumin compartment in transfer equilibrium, a radioactive breakdown products compartment, and an excretion compartment; but model A supposed I131-albumin catabolism to occur within the vascular system, model B within the extravascular compartment, model C within both, and model D within a separate compartment receiving albumin for catabolism from the plasma. The experimental data were reasonably well predicted by models A and C. However, model D, though data were insufficient for its complete validation, gave the best predictions and agrees with present knowledge of albumin catabolism. Various methods for calculating the rate of albumin breakdown are discussed. When calculations are based solely on the plasma radioactivity data, identical rates are predicted by models A, C, and D. When, as a valuable independent method, catabolism is calculated from plasma and excreted radioactivities, an error (ordinarily small) is incurred unless account is taken of the rate of passage of I131-albumin to the breakdown sites, and of the rate of excretion of the radioactive breakdown products.
PMCID: PMC2194981  PMID: 14436924

Results 1-5 (5)