The pathology of the lung in byssinotics. A report of the gross and microscopic appearances in the lungs and the weights of the cardiac ventricles in 43 subjects receiving industrial benefit for byssinosis is presented. In 27 (63%) there was no significant emphysema, in 10 (23%) there were varying amounts of centrilobular emphysema, and panacinar emphysema was found in six (14%). Other changes were of a non-specific nature, but most cases showed heavy black dust pigmentation, often associated with centrilobular dilatiation of distal air spaces.On microscopic examination the parenchyma showed no excessive fibrosis, granuloma formation or any other lesion to suggest an extrinsic alveolitis. The vasculature was in no way remarkable. Using a point-counting technique it was found that there was mucous gland hyperplasia and hypertrophy of smooth muscle in the upper and lower lobar bronchi but not to any significant degree in the segmental bronchi. These appearances suggest an irritant or pharmacological action on the larger bronchi rather than an allergic alveolitis or asthma. 'Byssinosis bodies' were found in seven cases, but the significance of these is doubtful.Comparison of the ventricular weights with 100 unselected cases coming to necropsy at the East Birmingham Hospital did not indicate an increased incidence of systemic or pulmonary hypertension in byssinotic subjects.

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Background SNCA mutations cause autosomal dominant parkinsonism and inform our understanding of the molecular underpinnings of synucleinopathies. The most recently identified mutation, p.Ala53Glu (A53E), has only been observed in Finland. The objectives of this study were to examine clinical, genetic, epigenetic, and biochemical features of the first family outside Finland with A53E. Methods We examined a Canadian family with parkinsonism because of A53E using haplotype and DNA methylation analyses. We assessed aggregation properties of A53E α‐synuclein in vitro. Results Family members with parkinsonism shared a common haplotype distinct from Finnish patients with A53E. Increased acceleration of DNA methylation age was accompanied by earlier age at onset in the family members. We demonstrate that A53E α‐synuclein has a propensity to form oligomers and phosphorylation promotes fibrillation. Conclusions A53E as a cause of parkinsonism is not restricted to Finnish individuals. DNA methylation may contribute to disease age at onset. A53E enriches α‐synuclein oligomers and fibrils dependent on the phosphorylation state. © 2018 International Parkinson and Movement Disorder Society

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