Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

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L’immigrazione nella trasformazione dei contesti urbani: il caso siciliano, l’esigenza del recupero culturale ed il rifiuto della marginalizzazione

The issue of the immigration leads to reorganize the whole social architecture of the societies in which it occurs. Considering the urban environment as a microcosm which has a great deal of influence on global dynamics, it is right to think about the living conditions of urban citizens who live in the multicultural present societies, often suffering marginalization. As the last researches claim, the local government system is the one that could help to deal with the immigration matter in the best way and this also needs to be urgently addressed, as the “Immigration in Sicily” case study could show

Thermal Uses of Geothermal Energy, Country Update for Italy

This paper presents an overview on the development of thermal applications of geothermal energy in Italy since the last WGC2015. The Italian situation is described till the end of 2017, being this the most recent year for which data are available at the writing date of this report. The total installed capacity amounts to 1424 MWt, with a corresponding heat energy use of about 10915 TJ/yr. The main share is held by the space heating sector (42% of the total energy, 52% of the overall installed capacity), followed by thermal balneology (32% in both values) and fish farming (18% and 9% namely). Agricultural applications, industrial processes and other minor uses together account for around 8% of the total geo-heat use. Additionally, the paper presents a brief overview on the national geothermal potential, the current regulatory framework, and the main international research activities with Italian participation. The data show an overall stagnant situation for direct uses in Italy with respect to what described in WGC2015. The main drawbacks of the slow increase of geothermal thermal applications, to be overcome to ensure a new development phase for the geothermal energy in Italy, are presented and discussed

Geothermal Energy Use, Country Update for Italy

This paper presents an overview on the development of geothermal energy applications in Italy for the year 2018 for both electricity generation and thermal uses. Geothermal power plants are located in Tuscany, in the two “historical” areas of Larderello-Travale and Mount Amiata. Thermal energy applications are widespread over the whole Italian territory. To date, Enel Green Power is the only geo-electricity producer in Italy. On 2016, with an installed capacity of 915.5 MWe, the gross electricity generation reached about 6.3 billion kWh, which represented a new record of electricity produced from geothermal resource in Italy. At the end of 2018 no additional units were installed and the gross electricity generation was of about 6.1 billion kWh. As far as thermal uses are concerned, at the end of 2017 the total installed capacity amounted to 1424 MWth, with a corresponding heat energy use of 10915 TJ/y. The main share is held by the space heating sector (42% of the total energy, 52% of the overall installed capacity), followed by thermal balneology (32% in both values) and fish farming (18% and 9% namely). Agricultural applications, industrial processes and other minor uses together account for around 8% of the total geo-heat use. In the past 7 years the direct use of geothermal heat has registered a rise of 26% and 40% in terms of energy use and installed capacity respectively, with ground-source heat pumps (GSHPs) and district heating applications (DHs) being the most widespread technologies that have more than doubled their capacity since 201

Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene

Prenatal diagnosis of skeletal dysplasias is particularly difficult for many reasons and differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily pathognomonic for a specific disorder. The diagnosis is often made just after birth or exitus. The prenatal diagnosis of osteochondrodysplasias is based predominantly upon fetal ultrasound findings and it focuses substantially on the possible lethality of the disorder, without always being able to find a specific name for the disorder. Metatropic dysplasia is a rare osteochondrodysplasia due to mutations in the TRPV4 gene: TRPV4 is a cation channel, non-selectively permeable to calcium, encoded by a gene on chromosome 12q24.11; it is widely expressed and involved in many different physiological processes through responses to several different stimuli (physical, chemical, and hormonal) in ciliated epithelial cells. The exact incidence of this disorder is not known, however less than a hundred cases have been reported at present, with only two prenatal reports but without any reference to the molecular test. We describe the first report of molecular diagnosis of metatropic dysplasia carried out in prenatal diagnosis: the molecular testing of the TRPV4 (transient receptor potential cation channel, subfamily V, member 4, MIM *605427) gene in our case, in fact, detected a causative variant, confirming the diagnostic suspicion, which was made possible thanks also to the utilization of MRI and CT scan. In our case different imaging methods together with the close cooperation of a multidisciplinary team and test availability, allowed an accurate diagnosis