Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy

This is an electronic version of an article published in Amyloid 2010, Vol. 17, No. 1 : Pages 32-35. Amyloid is available online at: http://informahealthcare.com/doi/pdf/10.3109/13506121003619369We report here two patients with amyloidogenic transthyretin (ATTR) Val30Met familial amyloid polyneuropathy (FAP) who developed numbness in both hands and were diagnosed as having bilateral carpal tunnel syndrome (CTS). In both patients systemic TTR amyloidosis consisting of polyneuropathy affecting both upper and lower limbs and/or autonomic dysfunction gradually appeared after surgery for CTS. Although CTS associated with TTR amyloidosis has been known as an initial symptom in some patients with ATTR non-Val30Met FAP and those with senile systemic amyloidosis, this is the first report of ATTR Val30Met FAP patients starting with upper limb neuropathy including CTS-like symptoms. It is also notable that both patients had no genealogical relationship with two Japanese endemic foci of this disease.ArticleAMYLOID. 17(1):32-35 (2010)journal articl

The effects of health education on health science teachers’ intention to recommend adolescent HPV vaccine for female students in Japan

The Japanese government suspended proactive recommendation of human papillomavirus (HPV) vaccination due to several reports of adverse events related to it in 2013. After that, the immunization rate of HPV vaccine quickly declined in Japan. Health science teachers (HSTs) are qualified and licensed teachers in charge of health care and health education for students in Japanese schools. HSTs have not recommended HPV vaccination to female students, since active governmental recommendation for HPV vaccination was halted for 5 y. We conducted a primary survey targeting HSTs (N = 39) and university students taking the HST training course (N = 123). In each group, awareness regarding HPV vaccine and disease burden was evaluated and factors related to and barriers to HPV vaccine recommendation were identified. The primary survey found that many HSTs and university students recognized their insufficient knowledge regarding the HPV vaccine. Based on the primary survey’s results, infectious disease specialists, collaborating with Japanese HSTs, developed educational slide sets on HPV vaccine. A secondary survey was conducted before and after the lecture with HSTs (N = 162), where we evaluated their intelligibility and intention to recommend HPV vaccination for female students. In the post-lecture, secondary survey, the number of HSTs who recommended the HPV vaccine to their students had statistically increased from 76 before the lecture, to 103 (p < .05). An educational lecture using appropriate materials improved HSTs’ vaccine confidence and intention to recommend the HPV vaccine to their students, verifying the study’s hypothesis

Marked biochemical difference in amyloid proportion between intra- and extraocular tissues in a liver-transplanted patient with hereditary ATTR amyloidosis

<p>In order to elucidate the pathomechanism of ocular amyloid formation in a liver-transplanted patient with hereditary ATTR amyloidosis, we investigated detailed biochemical features of ocular amyloid. The patient was a 49-year-old woman with V30M transthyretin (TTR) variant (p.TTRV50M), who underwent ophthalmectomy due to corneal rupture 10 years after liver transplantation (LT). The amyloid was selectively isolated from several portions in intra- and extraocular tissues using a laser microdissection (LMD) system and analyzed by liquid chromatography–tandem mass spectrometry to determine the composition percentage of wild-type and variant TTR in the isolated amyloid. Biochemical analysis revealed that the amyloid consisted mainly of variant TTR in intraocular tissues with a percentage > 80%. On the contrary in the extraocular muscles, wild-type TTR was the main component of the amyloid with a percentage of ∼70%. Our data indicate that intraocular amyloid formation strongly depends on locally synthesized variant TTR and the contribution of wild-type TTR to amyloid formation is quite limited.</p

Musculoskeletal manifestations occur predominantly in patients with later-onset familial Mediterranean fever: Data from a multicenter, prospective national cohort study in Japan

BACKGROUND: We showed previously that Japanese individuals with familial Mediterranean fever (FMF) have a more atypical phenotype compared to endemic areas. The clinical differences between young-onset FMF (YOFMF), adult-onset FMF(AOFMF), and late-onset FMF(LOFMF)in Japan are unclear. METHODS: We enrolled 395 consecutive patients. We defined YOFMF, AOFMF, and LOFMF as the onset of FMF at<20, 20-39, and??40years of age, respectively. We compared clinical manifestations and MEFV mutations patterns among these groups. RESULTS: Median ages at onset were YOFMF 12.5 years (n?=?182), AOFMF 28 years (n?=?115), and LOFMF 51years (n?=?90). A family history, MEFV mutations in exon 10, and more than two MEFV mutations were significantly more frequent in the earlier-onset groups (p?<?0.01, p?<?0.0001, and p<0.001,respectively). In the accompanying manifestations, thoracic and abdominal pain were significantly more frequent in the earlier-onset groups (p<?0.01and p<0.0001, respectively), whereas arthritis and myalgia were significantly more frequent in the later-onset groups (p<0.0001 and p<?0.01, respectively). The multiple logistic regression analysis revealed that the presence of MEFV exon 10mutations and earlier onset were significantly associated with serositis, whereas the absence of MEFV exon 10mutations, later onset, and the presence of erysipelas-like erythema were significantly associated with musculoskeletal manifestations. There was no significant between-group difference in the responsiveness to colchicine. CONCLUSIONS: Our results indicate that the later-onset FMF patients had a lower percentage of MEFV mutations in exon 10 and predominantly presented arthritis and myalgia. It is important to distinguish their FMF from other inflammatory diseases