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

oncology

The development of brain metastases (BMs) was associated with poor prognosis in melanoma patients. Patients with BMs have a median survival of 4 mm) (p = 0.008), ulceration (p = 0.007), and pathologically N2 and N3 diseases (p = 0.001) were found to be significantly associated with the development of BMs. In univariate analysis, tumor thickness and performance status had a significant influence on post-BMs survival. In multivariate analysis, these clinicopathologic factors were not remained as significant predictive factors.Our results revealed the importance of primary tumor characteristics associated with the development of BMs. Ulceration, primary tumor thickness, anatomic site, and pathologic a parts per thousand yenN2 disease were found to be significant predictors of BMs development

Evaluation of 2D and 3D ultrasound tracking algorithms and impact on ultrasound‐guided liver radiotherapy margins

Purpose: Compensation for respiratory motion is important during abdominal cancer treatments. In this work we report the results of the 2015 MICCAI Challenge on Liver Ultrasound Tracking and extend the 2D results to relate them to clinical relevance in form of reducing treatment margins and hence sparing healthy tissues, while maintaining full duty cycle.Methods: We describe methodologies for estimating and temporally predicting respiratory liver motion from continuous ultrasound imaging, used during ultrasound‐guided radiation therapy. Furthermore, we investigated the trade‐off between tracking accuracy and runtime in combination with temporal prediction strategies and their impact on treatment margins.Results: Based on 2D ultrasound sequences from 39 volunteers, a mean tracking accuracy of 0.9 mm was achieved when combining the results from the 4 challenge submissions (1.2 to 3.3 mm). The two submissions for the 3D sequences from 14 volunteers provided mean accuracies of 1.7 and 1.8 mm. In combination with temporal prediction, using the faster (41 vs 228 ms) but less accurate (1.4 vs 0.9 mm) tracking method resulted in substantially reduced treatment margins (70% vs 39%) in contrast to mid‐ventilation margins, as it avoided non‐linear temporal prediction by keeping the treatment system latency low (150 vs 400 ms). Acceleration of the best tracking method would improve the margin reduction to 75%.Conclusions: Liver motion estimation and prediction during free‐breathing from 2D ultrasound images can substantially reduce the in‐plane motion uncertainty and hence treatment margins. Employing an accurate tracking method while avoiding non‐linear temporal prediction would be favorable. This approach has the potential to shorten treatment time compared to breath‐hold and gated approaches, and increase treatment efficiency and safety.</br