Danon disease in a Sardinian family: different aspects of the same mutation-a case report

Background Danon disease (DD) is a rare X-linked disorder due to mutations in the lysosome-associated membrane protein 2 gene. It is characterized by a clinical triad of hypertrophic cardiomyopathy, skeletal myopathy, and a variable degree of intellectual disability. Case summary In this case series, we describe a mother and her son affected by DD, highlighting consistent clinical severity despite the expected variability related to gender. The mother (Case 1) presented isolated cardiac involvement, with an arrhythmogenic phenotype that evolved into severe heart failure requiring heart transplantation (HT). Danon disease was diagnosed 1 year after this event. Her son (Case 2) showed an earlier age onset of symptoms with complete atrioventricular block and fast progression of cardiac disease. Diagnosis was established 2 years after clinical presentation. He is currently listed for HT. Discussion In both of our patients, diagnostic delay was extremely long and could have been avoided by emphasizing the relevant clinical red flags. Patients affected by DD may present clinical heterogeneity in terms of natural history, age of onset, and cardiac and extracardiac involvement, even in the same family. Early diagnosis that phenotypic sex differences may impact is a crucial factor in managing patients with DD. Considering the rapid progression of cardiac disease and the poor prognosis, early diagnosis is important and close surveillance should be mandatory during follow-up

The Virgo 3 km interferometer for gravitational wave detection

Virgo, designed, constructed and developed by the French-Italian VIRGO collaboration located in Cascina (Pisa, Italy) and aiming to detect gravitational waves, is a ground-based power recycled Michelson interferometer, with 3 km long suspended Fabry-Perot cavities. The first Virgo scientific data-taking started in mid-May 2007, in coincidence with the corresponding LIGO detectors. The optical scheme of the interferometer and the various optical techniques used in the experiment, such as the laser source, control, alignment, stabilization and detection strategies are outlined. The future upgrades that are planned for Virgo from the optical point of view, especially concerning the evolution of the Virgo laser, are presented. Finally, the next generation of the gravitational wave detector (advanced Virgo) is introduced from the point of view of the laser system

The European League for Non-Western Studies and E-learning

Leiden’s Faculty of Arts invited on May 20th the members of the ELNWS for a workshop on e-learning for Non-Western studies. The aim of the workshop was to take a closer look at the possibilities of e-learning as a means of realizing co-operation between our universities. During our discussions, and looking back on the past academic years, we attempted to position our own academic community on the Internet, in the sense of 'looking for, finding and putting it on, or giving it a location' in the omnipresent Internet. In order to investigate the ways in which e-learning can be used as a tool to stimulate European co-operation within the field of Non-Western studies, Leiden’s Faculty of Arts rewards one initiative between two or more European universities of the ELNWS with financial support