Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation

We report a BIN1-related CNM family with unusual clinical phenotype. The proband, a 56-year-old man suffered of lower limbs myalgia since the age of 52. Clinical examination showed short stature, mild symmetric eyelid ptosis without ophthalmoplegia, scapular winging and Achilles tendon retraction. A muscle weakness was not noted. CK levels were up to 350 UI/L. Deltoid muscle biopsy showed nuclear centralization and clustering, deep sarcolemmal invaginations and type 1 fiber hypotrophy. Whole body MRI revealed fatty infiltration of posterior legs compartments, lumbar paraspinal and serratus muscles. Myotonic dystrophy type1 and 2, Pompe disease and MTM1 and DNM2-related CNM were ruled out. By sequencing BIN1, we identified a heterozygous pathogenic mutation [c.107C > A (p.A36E)], and we demonstrate that the mutation strongly impairs the membrane tubulation property of the protein. One affected sister carried the same mutation. Her clinical examination and muscle MRI revealed a similar phenotype. Our findings expand the clinical and genetic spectrum of the autosomal dominant CNM associated with BIN1 mutations

Are the next-generation households ready for the energy transition? A survey on their positioning and practice with energy management tools

In the last decades, significant effort has been put towards technological advancement in housing for energy transition. Massive retrofitting actions have been called for, and innovative technologies for smart energy management at home have been deployed. However, undesired energy trends in housing suggest that relevant factors have been neglected. Among these, increasing importance is now given to occupants' behaviour, and their capacity to interact with energy management devices available in dwellings. This study investigates what is the position of next-generation users on energy transition at home. Two years ago, the authors launched a survey to explore people's awareness of energy use practices, interaction with metering devices, and user motivation to change when informed. As a pilot survey, over 300 people from the academy were involved to see what was the position of a sample which was supposed to be informed more than the average, in Italy. The test yielded early outcomes on how people become more interested to change as they gain knowledge and are offered suggestions. Despite the expectations, the sample's level of awareness was low. This suggested that a more user-centred approach is needed for wide-scale progress. Especially results from the youngest were below prospects. The questionnaire was relaunched to examine if the pandemic, energy crisis and latest news on climate change have affected positions of the youngsters. A testing session involving university students was performed, and results have been compared with the previous. As a result, reflections on the energy use patterns of the next-generation households are provided

Acute silica toxicity: attenuation by amiodarone-induced pulmonary phospholipidosis.

Exposure to the toxic mineral dust silica has been shown to produce an acute inflammatory response in the lungs of both humans and laboratory animals. Coating silica with phospholipids reduces its toxicity when studied with in vitro systems. The drug amiodarone increases phospholipid within the cells, airways, and alveoli of the lungs. This increase in phospholipid is due to amiodarone\u27s ability to inhibit phospholipase activity within alveolar macrophages (AMs) and whole lung. The purpose of this study was to determine whether the amiodarone-induced increase in pulmonary phospholipid would protect the lungs from acute damage caused by the intratracheal instillation of silica. Treatment of male Fischer 344 rats with amiodarone for 14 days caused an increase in phospholipid content in bronchoalveolar lavage fluid and AMs compared to vehicle-treated controls. The rats were then instilled with silica or saline vehicle. At both 1 and 14 days after silica exposure, pulmonary phospholipidosis was associated with a marked reduction in acute silica-induced pulmonary damage as assessed by biochemical parameters in bronchoalveolar lavage fluid, however, the influx of neutrophils into the airspaces was not reduced. Four times more phospholipid was bound to the silica recovered from amiodarone-treated rats compared to controls. The results of these in vivo experiments indicate that pulmonary phospholipidosis attenuates the acute damage associated with the intratracheal instillation of silica in rats. By using an in vitro cell culture system, we demonstrated that, in contrast to control AMs, phospholipidotic AMs were significantly more resistant to the cytotoxicity of surfactant-coated silica.(ABSTRACT TRUNCATED AT 250 WORDS

Effect of facade reflectance on outdoor microclimate: An Italian case study

Global warming affects the built environment with relation to its own characteristics, form, density. Heat waves effects would have limited effects if most of the cities would not be affected by Urban Heat Island that strongly increase their impacts (particularly on urban population). Does the choice of façade colours and materials contribute to this issue? The paper reports a research on a case study in Italy that tries to answer to this question comparing the trend in outdoor temperature increase closed to the building façade with relation to its colour and reflectance variations modelled by using Envi-met software. The outcomes point out that there is a correlation between the building façade reflectance and the temperature trend but this has a very limited influence on outdoor microclimate in open spaces as it varies in a range of less than 1°C

Energy Transition at Home: A Survey on the Data and Practices That Lead to a Change in Household Energy Behavior

Since energy transition depends significantly on reducing the built environment’s energy needs, many regulations and incentives have been implemented globally over the last three decades. Despite some positive results, many scholars suggest that households’ behavioral change could greatly accelerate progress. People’s levels of awareness and willingness to change, as well as the provision of feedback technologies, are important factors affecting the process. In spite of the extent of this body of literature, household consumption keeps rising. Our thesis is that the subject has been investigated without considering some important correlations among factors. Therefore, this study developed a survey to investigate actual consumers’ perspectives on the topic by combining people’s awareness of energy use, interaction with metering devices, and user motivation into a coherent framework. A testing session involving 500 people was held as a validation phase for a future large-scale launch of the questionnaire. The test yielded some early outcomes on how people become more interested in changing as they gain more knowledge and are offered suggestions. However, despite their supposedly advanced knowledge as educators and students, the sample’s level of awareness was low, suggesting that a more user-centered approach is needed for wide-scale progress

Modal testing of offshore rock lighthouses around the British Isles

EURODYN 2017, 2017-09-10, 2017-09-13, RomeThis is the author accepted manuscript. The final version is available from the publisher via the DOI in this record.Given that 95 per cent of the UK’s international trade is transported by sea, and as a vital complement to fallible virtual navigational aids such as GPS, rock-mounted lighthouses constructed in the 19th century have a crucial role to play in safe navigation. However the longevity of these historical structures is threatened by extreme weather so in the UK, the General Lighthouse Authorities comprising Trinity House, the Northern Lighthouse Board and the Commissioners of Irish Lights are supporting three British universities in a program of linked experimental and analytical investigations of full-scale performance under extreme wave loading. The aim is to use structural models calibrated by modal testing to deduce wave loading from response recorded by long-term monitoring. The paper describes the procedures for modal testing, taking into account the constraints on access, logistics, unfamiliar layout and time. The test program sequentially covered Les Hanois, Wolf Rock, Longships and Bishops Rock lighthouses over summer 2016 followed by Fastnet Rock in December 2016. Some conventional techniques of forced and ambient vibration testing were used along with some unusual excitation methods. Results from the measurements and observations on the particular challenges associated with testing two of these iconic structures are presented.The research was funded by EPSRC grant EP/N022955/