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Objective: Hereditary transthyretin amyloidosis (ATTRv) encompasses different phenotypes among various genotypes. The analysis of the natural history and risk factors of faster progression in different genotypes would refine the treatment strategy. Methods: The clinical manifestations of ATTRv from A97S (p.A117S) of Taiwanese and late-onset V30M (p.V50M) of Japanese were compared. An autopsy study of A97S was performed. Results: There existed three unique features in the A97S cohort compared to the V30M cohort: (1) dysphagia, (2) carpal tunnel syndrome (CTS), and (3) onset age. First, dysphagia was common in A97S (53.4%) but not in V30M and served as a contributor to fast disease progression. All phases of swallowing were affected. In the autopsy pathology, there were extensive amyloid deposits in the viscera and nerves of the tongue, larynx, and esophagus. In A97S, 45 patients (43.3%) had a history of CTS before the onset of length-dependent symptoms by 3 years. The amyloid deposition was more prominent in the median nerve than that in the transverse carpal ligament. The onset age at different stages was younger in the A97S cohort than the V30M cohort by 4–5 years. Conclusion: These phenotypic characteristics together with autopsy pathology in A97S are distinct from V30M. Early dysphagia in A97S correlated with fast progression. In A97S, median neuropathy leading to CTS might be in a continuous spectrum of ATTRv course rather than an independent disease entity. Such observations may serve as a foundation to explore and analyze unique phenotypes among various genotypes. [ABSTRACT FROM AUTHOR]

Purpose: To explore the natural course of diabetic retinopathy among type 2 diabetics using the indirect ophthalmoscope and single-field fundus photographs in Kinmen, Taiwan. Methods: A screening program for diabetic retinopathy was carried out by a panel of ophthalmologists, who employed the ophthalmoscope and 45-degree retinal color photographs to examine the fundus after pupil dilation. Screening, which was conducted between 1999 and 2002, involved 971 patients diagnosed with type 2 diabetes. A multi-state Markov model was used to assess the natural course of diabetic retinopathy among type 2 diabetics. Results: Among the 725 diabetes patients who attended at least two ophthalmological fundus check-ups and were screened, the overall response rate was about 75%. The mean duration of the disease states mild nonproliferative diabetic retinopathy, moderate nonproliferative diabetic retinopathy, severe nonproliferative diabetic retinopathy, and proliferative diabetic retinopathy were 4.05 [95% confidence interval (CI): 3.28–5.32], 4.18 (95% CI: 3.18–6.06), 2.52 (95% CI: 1.78–4.27), and 4.22 (95% CI: 2.88–7.81) years, respectively. Compared to controls, the incidence of blindness reduction for annual, biennial, 3-year, 4-year, and 5-year screenings of diabetic retinopathy were approximately 94.4% (95% CI: 91.6%–96.3%), 83.9% (95% CI: 83.6%–84.2%), 70.2% (95% CI: 69.8%–70.7%), 57.2% (95% CI: 56.7%–57.7%), and 45.6% (95% CI: 45.0%–46.1%), respectively. Conclusions: In conclusion, the average time for the development of diabetic retinopathy from nonexistence to blindness was approximately 26.5 years. The present recommendation for annual screening in type 2 diabetics with nonproliferative diabetic retinopathy should be retained only for the mild form, not for the moderate or severe forms. [ABSTRACT FROM AUTHOR]