Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present. Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present; conduction abnormalities, coronary artery and other vascular involvement may also occur. Cardiac disease emerges silently and contributes significantly to early mortality

Estimating methane emissions from northern lakes using ice-bubble surveys

The magnitude and variability in methane (CH4) emissions from lakes are uncertain due to limitations in methods for quantifying the patchiness of ebullition (bubbling). We present a field method to estimate an important and highly uncertain source: ebullition from northern lakes. We defined four classes of CH4 bubble clusters trapped in lake ice representing distinct types of biogenic ebullition seeps that differed in flux rate. Mean annual ebullition determined through long-term (up to 700 d) continuous flux measurements of 31 seeps in three Siberian and one Alaskan lake was (mean ± standard error, 4-10 seeps per class; g CH4 seep –1 y –1): A, 6 ± 4; B, 48 ± 11; C, 354 ± 52; Hotspot, 1167 ± 177. Discrete-seep ebullition comprised up to 87% of total emissions from Siberian lakes when diffusive flux and background and seep ebullition were considered together. Including seep ebullition increased previous estimates of lake CH4 emissions based on traditional methods 5- to 8-fold for Siberian and Alaskan lakes. Linking new ebullition estimates to an established biogeochemical model, the Terrestrial Ecosystem Model, increased previous estimates of regional terrestrial CH4 emissions 3- to 7-fold in Siberia. Assessment of the method revealed that ebullition seeps are an important component of the terrestrial CH4 budget. They are identifiable by seep type by independent observers; they are consistent predictors of flux rate in both Siberia and Alaska; and they allow quantification of what was previously a large source of uncertainty in upscaling CH4 emissions from lakes to regions