Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis. Mutations in the gene encoding the cAMP response element-binding protein (CREB, also known as CREBBP or CBP) on chromosome 16p13.3 have been identified. In addition, some patients with low intelligence quotients and autistic features bear large deletions. Based on these observations, we used multiplex ligation-dependent probe amplification to search for large deletions affecting the CREBBP gene in a Rubinstein-Taybi syndrome patient. We identified a novel heterozygote deletion removing five exons (exons 17-21), encoding the histone acetyltransferase domain. We propose the use of multiplex ligation-dependent probe amplification as a fast, accurate and cheap test for detecting large deletions in the CREBBP gene in the sub-group of Rubinstein-Taybi syndrome patients with low intelligence quotients and autistic features

Definition of regions of provenance and seed zones for forest basic and moltiplication materials of Abruzzo region

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Treatment of peripheral arterial disease in diabetes: a consensus of the Italian Societies of Diabetes (SID, AMD), Radiology (SIRM) and Vascular Endovascular Surgery (SICVE).

AbstractDiabetic foot (DF) is a chronic and highly disabling complication of diabetes. The prevalence of peripheral arterial disease (PAD) is high in diabetic patients and, associated or not with peripheral neuropathy (PN), can be found in 50% of cases of DF. It is worth pointing out that the number of major amputations in diabetic patients is still very high. Many PAD diabetic patients are not revascularised due to lack of technical expertise or, even worse, negative beliefs because of poor experience. This despite the progress obtained in the techniques of distal revascularisation that nowadays allow to reopen distal arteries of the leg and foot. Italy has one of the lowest prevalence rates of major amputations in Europe, and has a long tradition in the field of limb salvage by means of an aggressive approach in debridement, antibiotic therapy and distal revascularisation. Therefore, we believe it is appropriate to produce a consensus document concerning the treatment of PAD and limb salvage in diabetic patients, based on the Italian experience in this field, to share with the scientific community

Straw as construction material for sustainable buildings: Life Cycle Assessment of a post-earthquake reconstruction

Straw as construction raw material assures economical, environmental sound, fire-resistant and quake-proof buildings, moreover it lends to self-construction and social housing. For all these reasons straw bale technology has been used in the post-earthquake reconstruction in Pescomaggiore, in the Municipality of L'Aquila, (Italy) after the last earthquake the 6th April 2009 (5.8 degrees on Richter scale). The house has been self-constructed by a team of volunteers in collaboration with EVA (EcoVillaggioAutocostruito) Pescomaggiore Association and a large part of the construction materials has been selected in order to reduce the impact of transportations. The paper is aimed at investigating the "hot spots" of this solution and improving straw bale building technology. The results indicate that some materials can be substituted to assure smaller impact in pre-use phase. Furthermore an end of life scenario, considering the house compostable, has been analysed and a correct use of plaster in order to assure compostability has been investigated in the paper. \ua9 2015 Taylor & Francis Group

Life cycle application in industrial waste end of life tires use for thermo acoustic panels production

The research of new products derived from waste and from recycled materials is today ever more necessary in order to reduce consumption of natural raw materials and at the same time to recover and recycle waste from domestic or industrial origin. This approach is now very active in buildings and construction sector which appear active and open to different innovations. New products are developed such as in thermal and acoustic insulation with interesting applications in civil and industrial installations. In particular, this issue reports the results of tests and experiments conducted on panels for thermo acoustic insulation, which are produced with recycled synthetic high density fibers, rubber and other waste materials. The study aimed to validate quality and performance of insulation panels using, at different percent, finely ground rockwool waste, derived from the same thermo acoustic insulation industry, and fine rubber aggregate resulting from mechanical treatment of used tires. The final panels manufacturing is completed adding thermosetting polymers and salts necessary to give it fire retardant characteristics. Finally, a Life Cycle Assessment was applied in order to demonstrate environmental and economic sustainability in this kind of product as well as its technical efficiency