100 research outputs found
Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation
No full textSjögren-Larsson syndrome is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, a microsomal enzyme that catalyzes the oxidation of medium- and long-chain aliphatic aldehydes fatty acids. We studied three Turkish Sjögren-Larsson syndrome patients with ichthyosis, developmental delay, spastic diplegia, and brain white matter disease. One patient was homozygous for a novel ALDH3A2 mutation in exon 5. The mutation involves the codon 228 (CGC) with the transversion G->A modifying the codon in CAC, leading to the substitution of the original arginine with a histidine (R228H), modifying the stereospecific properties of this region. These results add to the understanding of the genetic basis of Sjögren-Larsson syndrome and will be useful for DNA diagnosis of this disease
Impact of Different Illuminance Typical Years Models on a Climate Based Method for the Calculation of Artificial Lighting Energy Use in Office Buildings
No full textArtificial lighting has a relevant impact on the electricity uses in not residential buildings. The method to assess such uses is based on standards, which hardly take into account the daylighting contribution and the time evolution of the outdoor illuminance conditions. Different models were adopted to build diffuse illuminance reference years, starting from satellite images. These models lead to different daylight availability during the year. The paper explores the impact that these models have on the artificial lighting energy uses by hourly monthly mean calculations. The test was carried out with a climate based method, which takes into account: the outdoor luminous environment, the reference indoor visual task and the building daylight characteristics. A typical office building was used for the test in Rome, Italy. Results allowed to compare the impact of each model and to select the most suitable one to be implemented in the climate based method to predict artificial lighting use in buildings
The circulating miRNAs as diagnostic and prognostic markers
No full textA large portion of the human genome transcribes RNA sequences that do not code for any proteins. The first of these sequences was identified in 1993, and the best known noncoding RNAs are microRNA (miRNAs). It is now fully established that miRNAs regulate approximately 30% of the known genes that codify proteins. miRNAs are involved in several biological processes, like cell proliferation, differentiation, apoptosis and metastatization. These RNA products regulate gene expression at the post-transcriptional level, modulating or inhibiting protein expression by interacting with specific sequences of mRNAs. Mature miRNAs can be detected in blood plasma, serum and also in a wide variety of biological fluids. They can be found associated with proteins, lipids as well as enclosed in exosome vesicles. We know that circulating miRNAs (C-miRNAs) can regulate several key cellular processes in tissues different from the production site. C-miRNAs behave as endogenous mediators of RNA translation, and an extraordinary knowledge on their function has been obtained in the last years. They can be secreted in different tissue cells and associated with specific pathological conditions. Significant evidence indicates that the initiation and progression of several pathologies are "highlighted" by the presence of specific C-miRNAs, underlining their potential diagnostic relevance as clinical biomarkers. Here we review the current literature on the possible use of this new class of molecules as clinical biomarkers of diseases
Angioplastica dell'arteria femorale profonda con endoprotesi semirigida di PTFE. Ricerche sperimentali.
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Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes
No full textHeterozygous mutations in TP63 cause a wide spectrum of autosomal dominant developmental disorders variably affecting skin, limbs, and face. TP63 encodes p63, a protein expressed in two main isoforms (Tap63 and ΔNp63) with critical roles in both cell differentiation and development. Some analyses suggest a relationship of the mutation site to the observed clinical picture, although this link is inconsistent. This suggests an appreciable phenotypic continuity within the TP63-related disorders. We report a 3-month-old boy ascertained for congenital scalp erosion and mild features of ectodermal dysplasia. His mother showed full-blown characteristics of Rapp-Hodgkin syndrome plus intense abdominal and popliteal freckling. Molecular investigation identified the novel TP63 mutation c.1697delG. We used a luciferase reporter assay to compare the effects on the p63 transactivation (TA) activity of c.1697delG with that of the p.Arg280Cys and p.Gln634X mutations, associated with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and isolated split hand/foot malformation, respectively. These results demonstrated complex behavior of c.1697delG in the TA of genes involved in epidermal differentiation and development and shed further light in the physiopathology of TP63-related disorders
The Doppler method in the study of venous pathology of the lower limbs. [Il Doppler nello studio della patologia venosa degli arti inferiori.]
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