A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.

We report the identification of a new transthyretin (TTR) gene mutation and variant protein, Glu61Gly, in a 55-year-old man with progressive cardiomyopathy, mild peripheral neuropathy and bilateral carpal tunnel syndrome. A diagnosis of TTR-associated familial amyloidosis (ATTR) was considered after an endomyocardial biopsy revealed amyloid deposits in the heart of a patient who had no family history of amyloidosis and no evidence of a plasma cell dyscrasia. Serum screening for a TTR variant by isoelectric focusing (IEF) was positive and prompted further studies to identify the genetic abnormality and to characterize the amyloidogenic protein. Direct DNA sequence analysis of all four coding regions in the TTR gene demonstrated heterozygosity in exon 3. Near equal amounts of guanine (G) and adenine (A) were observed at the second base position of codon 61. The wild-type (GAG) and mutated (GGG) sequences found in codon 61 correspond to glutamic acid (Glu) and glycine (Gly) residues, amino acids which differ in mass by -72 Da. Mass spectrometric analyses of TTR immunoprecipitated from serum showed the presence of both wild-type and variant proteins. The observed mass results for the wild-type and variant proteins were consistent with the predicted values calculated from the genetic analysis data.     

Shyness and face scanning in children

Contrary to popular beliefs, a recent empirical study using eye tracking has shown that a non-clinical sample of socially anxious adults did not avoid the eyes during face scanning. Using eye-tracking measures, we sought to extend these findings by examining the relation between stable shyness and face scanning patterns in a non-clinical sample of 11-year-old children. We found that shyness was associated with longer dwell time to the eye region than the mouth, suggesting that some shy children were not avoiding the eyes. Shyness was also correlated with fewer first fixations to the nose, which is thought to reflect the typical global strategy of face processing. Present results replicate and extend recent work on social anxiety and face scanning in adults to shyness in children. These preliminary findings also provide support for the notion that some shy children may be hypersensitive to detecting social cues and intentions in others conveyed by the eyes. Theoretical and practical implications for understanding the social cognitive correlates and treatment of shyness are discussed.     

The health-related quality of life of male and female heavy smokers

Objectives: Heavy smokers are a segment of the smoking population who are at increased risk of smoking-related morbidity and least likely to achieve cessation. This study identifies the impact of heavy smoking on quality of life by gender and describes the subpopulation for improved targeting.Methods: South Australian representative population data (n = 3010) was used to compare the health-related quality of life status of male and female heavy smokers as assessed by the SF-36.     

The social behavior of autistic children with younger and same-age nonhandicapped peers

Results of a study observing autistic children's interactions with nonhandicapped and autistic peers are reported. Six 8- to 12-year-old autistic children played in dyads with younger, normally developing kindergarten children and with nonhandicapped peers matched on chronological age for 10 15-minute sessions spaced over 3 weeks and then with a playmate of the alternate age for another 10 sessions. After intervention, all subjects showed gains in proximity, orientation, and responsiveness when playing with nonhandicapped peers and with autistic classmates. Same-age nonhandicapped playmates initiated more frequently than did younger nonhandicapped playmates and were better able to modify their initiations in ways that increased the likelihood of response from the autistic children.