SNOWED: Automatically Constructed Dataset of Satellite Imagery for Water Edge Measurements.

Monitoring the shoreline over time is essential to quickly identify and mitigate environmental issues such as coastal erosion. Monitoring using satellite images has two great advantages, i.e.

Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.

BACKGROUND: Mucopolysaccharidosis type VI (MPS VI) is an inherited multisystem lysosomal disorder due to arylsulfatase B (ARSB) deficiency that leads to widespread accumulation of glycosaminoglycans (GAG), which are excreted in increased amounts in urine. MPS VI is characterized by progressive dysostosis multiplex, connective tissue and cardiac involvement, and hepatosplenomegaly. Enzyme replacement therapy (ERT) is available but requires life-long and costly intravenous infusions; moreover, it has limited efficacy on diseased skeleton and cardiac valves, compromised pulmonary function, and corneal opacities.

Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry.

Background: The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this period.

Methods: To describe the impact of the Covid-19 pandemic on the diagnosis of patients with rare diseases, a retrospective analysis of the Campania Region Rare Disease Registry was performed. A tailored questionnaire was sent to rare disease experts to investigate major issues during the emergency period.

Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?

Background: How to address the counseling of lifetime risk of developing Parkinson's disease in patients with Gaucher disease and their family members carrying a single variant of the GBA1 gene is not yet clearly defined. In addition, there is no set way of managing Gaucher disease patients, taking into account the possibility that they may show features of Parkinson's disease.

Methods: Starting from an overview on what has recently changed in our knowledge on this issue and grouping the experiences of healthcare providers of Gaucher disease patients, we outline a path of counseling and management of Parkinson's disease risk in Gaucher disease patients and their relatives.

Assessment of Position Repeatability Error in an Electromagnetic Tracking System for Surgical Navigation.

In this paper we present a study of the repeatability of an innovative electromagnetic tracking system (EMTS) for surgical navigation, developed to overcome the state of the art of current commercial systems, allowing for the placement of the magnetic field generator far from the operating table. Previous studies led to the development of a preliminary EMTS prototype. Several hardware improvements are described, which result in noise reduction in both signal generation and the measurement process, as shown by experimental tests.