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Background: This study investigated whether a relationship exists between the presence of de novo antibodies and the clinical manifestations of familial amyloidotic polyneuropathy (FAP)., Methods: Serum samples were collected from 25 Japanese and 6 Swedish FAP amyloidogenic transthyretin (ATTR) Valine30Methionine (V30M) patients, 4 asymptomatic Japanese ATTR V30M gene carriers, and 24 Japanese healthy volunteers. Study methods included enzyme-linked immunosorbent assay (ELISA) and mass spectrometry., Results: Three Japanese and 5 Swedish patients had significantly higher levels of antibodies against ATTR than did healthy volunteers and asymptomatic gene carriers (P<0.05). All 8 patients with higher antibody levels were late-onset cases. The ratio of wild-type TTR to ATTR V30M in serum from the high-antibody group was higher than that of the low-antibody group. ELISA results revealed two epitopes at positions 24-35 and 105-115 of ATTR V30M. We found a significant positive correlation between levels of the antibody at positions 24-35 and the age at FAP onset (r=0.751, P<0.05). An age-dependent increase in the occurrence of antibodies was observed in these patients with an epitope at positions 24-35., Conclusions: These findings may help explain the differences in early- and late-onset FAP and/or the progression of FAP., (Copyright © 2013 Elsevier B.V. All rights reserved.)

Background: Differences in the gastrointestinal manifestations have emerged between Swedish and Japanese familial amyloidotic polyneuropathy amyloidogenic transthyretin Valine30Methionine (FAP ATTR Val30Met) patients. To elucidate the cause of the differences, we investigated the associations between serotonin transporter gene-linked polymorphic region (5-HTTLPR) and/or catechol-O-methyl transferase (COMT) gene polymorphism and their gastrointestinal in these patients., Methods: Twenty-six Swedish and 24 Japanese patients with gastrointestinal disturbances, in whom genetic material was available, were included in the study. The initial gastrointestinal manifestations of the disease were classified as constipation, constipation alternating with diarrhoea, continuous diarrhoea, and nausea/vomiting. 5-HTTLPR and COMT gene polymorphism were assessed by polymerase chain reaction and enzymatic digestion., Results: A significantly higher LA allele frequency of 5-HTTLPR was noted in the Swedish population compared with that of the Japanese. Moreover, the LA allele frequency tended to be lower in the continuous diarrhoea group than in that of the remaining groups of both Swedish and Japanese patients. No association between COMT genotype and initial gastrointestinal symptoms was noted., Conclusion: A high expression of serotonin transporter induced by LA allele of 5-HTTLPR may be one of the factors implicated with the inhibition of severe diarrhoea in early stages of Swedish FAP ATTR Val30Met patients.

The purpose of this article is to describe the challenges faced by a research team in developing treatment and control conditions in a study of the efficacy of massage therapy for advanced cancer. Five design considerations were addressed related to developing a massage therapy protocol: (1) dosage, that is, the number, spacing and length of treatments; (2) type of massage therapy; (3) degree to which the protocol for the treatment is standardized; (4) qualifications of the persons providing the treatment; and (5) conditions under which the treatment is provided. Five criteria for structuring the control condition of the study are elaborated: (1) equivalency of contact; (2) similarity of form; (3) minimum adverse or negative effects; (4) expectancy of therapeutic benefit; and (5) minimum therapeutic benefit.

The aim of the present study was to compare the clinical symptoms of Swedish and Japanese patients with familial amyloidotic polyneuropathy (ATTR Val30Met), especially gastrointestinal disturbances, and to correlate the findings with survival. Seventy-three Swedish and 47 Japanese patients were available for the study. Thirty-two Swedish and 7 Japanese patients had undergone liver transplantation. The mean age at onset was 50 for Swedish and 35 for Japanese patients (P < 0.001; non-transplanted patients). Fifty-five percent of Japanese patients had gastrointestinal disturbances from onset, compared to 22% of Swedish patients (P < 0.05; whole population). The Swedish patients average survival after the onset was significantly longer than Japanese patients (P < 0.05; non-transplanted patients). An early onset of gastrointestinal symptoms was correlated to a decreased survival for Swedish, but not for Japanese patients. Age at onset was not correlated to survival neither for Swedish nor for Japanese patients. We conclude that the clinical expressions of familial amyloidotic polyneuropathy ATTR Val30Met are different in Swedish and Japanese patients. The survival after the onset was shorter for Japanese patients, who also had an earlier onset of gastrointestinal disturbances, especially diarrhea than Swedish patients.