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.     

Menstrual Perceptions and Preparation Among Female Adolescents

Seventy-four 8th- and 10th-grade students attending a private girls' school in Hawaii were queried about their perceptions of and preparation for menstruation using a questionnaire administered in a health education class. Eighty percent had already started menstruating. The most frequently cited perceptions by the respondents referred to both the inconveniences and the normalcy of menstruation. Many were first informed about menstruation by their mothers and stated that they also first informed their mothers when they started menstruating. Surprise, fear, and embarrassment were common initial reactions, while strong negative or positive emotions were more rare. Only 35% wanted boys and girls together during class discussion, but 89% stated that boys needed to be informed about menstruation. The most frequent reasons cited for noncoed settings were the girls' concern about their comfort in openly discussing menstruation. Thirty-eight percent thought parents should inform other siblings when they started menstruation, although almost half gave specific conditions the parents should consider. The majority thought the fifth to sixth grades were the best times to introduce menstruation content.