Functional Characterization of a Novel TP63 Mutation in a Family With Overlapping Features of Rapp-Hodgkin/AEC/ADULT Syndromes

Heterozygous 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. © 2011 Wiley Periodicals, Inc

OTX Genes in Adult Tissues

OTX homeobox genes have been extensively studied for their role in development, especially in neuroectoderm formation. recently, their expression has also been reported in adult physiological and pathological tissues, including retina, mammary and pituitary glands, sinonasal mucosa, in several types of cancer, and in response to inflammatory, ischemic, and hypoxic stimuli. reactivation of OTX genes in adult tissues supports the notion of the evolutionary amplification of functions of genes by varying their temporal expression, with the selection of homeobox genes from the "toolbox" to drive or contribute to different processes at different stages of life. OTX involvement in pathologies points toward these genes as potential diagnostic and/or prognostic markers as well as possible therapeutic targets

Correlation between Chest Computed Tomography Score and Laboratory Biomarkers in the Risk Stratification of COVID-19 Patients Admitted to the Emergency Department

background: it has been reported that mid-regional proadrenomedullin (MR-proADM) could be considered a useful tool to stratify the mortality risk in COVID-19 patients upon admission to the emergency department (ED). during the COVID-19 outbreak, computed tomography (CT) scans were widely used for their excellent sensitivity in diagnosing pneumonia associated with SARS-CoV-2 infection. however, the possible role of CT score in the risk stratification of COVID-19 patients upon admission to the ED is still unclear. aim: the main objective of this study was to assess if the association of the CT findings alone or together with MR-proADM results could ameliorate the prediction of in-hospital mortality of COVID-19 patients at the triage. moreover, the hypothesis that CT score and MR-proADM levels together could play a key role in predicting the correct clinical setting for these patients was also evaluated. methods: epidemiological, demographic, clinical, laboratory, and outcome data were assessed and analyzed from 265 consecutive patients admitted to the triage of the ED with a SARS-CoV-2 infection. results and conclusions: the accuracy results by AUROC analysis and statistical analysis demonstrated that CT score is particularly effective, when utilized together with the MR-proADM level, in the risk stratification of COVID-19 patients admitted to the ED, thus helping the decision-making process of emergency physicians and optimizing the hospital resources

Impact of Different Illuminance Typical Years Models on a Climate Based Method for the Calculation of Artificial Lighting Energy Use in Office Buildings

Artificial 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

impact of different luminous efficacy models on the calculation of lighting energy uses in non residential buildings

Abstract Artificial lighting has a relevant impact on the electricity uses in non-residential buildings. The calculation method introduced in the relevant EN standards takes into account, only to some extent, the daylighting role on the lighting performances of buildings. An alternative method is under development for the Italian territory, which introduces a climate based approach to properly estimate the day light contribution. The method requires the implementation outdoor global and diffuse illuminance Typical Meteorogical Years (TMY), which calculated starting from solar irradiation data and luminous efficacy models. Different models can be used for this purpose, consequently these differences may lead to different estimates of daylight availability in buildings during the year. This paper explores the impact of different luminous efficacy models on the lighting energy uses in non-residential buildings. A typical office building is used for the study and calculations are carried out for three localities of the Italian territory. The outdoor luminous environment, the reference indoor visual task and the building daylight characteristics are taken into account. Results allow to compare the energy lighting performance of the building applying the different luminous efficacy models and, as a consequence, to select the most suitable model to be used in a climate based artificial lighting calculation method

The COVID-19 pandemic

In December 2019, an outbreak of pneumonia of unknown origin was reported in Wuhan, Hubei Province, China. Pneumonia cases were epidemiologically linked to the Huanan Seafood Wholesale Market. Inoculation of respiratory samples into human airway epithelial cells, Vero E6 and Huh7 cell lines, led to the isolation of a novel respiratory virus whose genome analysis showed it to be a novel coronavirus related to SARS-CoV, and therefore named severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 is a betacoronavirus belonging to the subgenusSarbecovirus. The global spread of SARS-CoV-2 and the thousands of deaths caused by coronavirus disease (COVID-19) led the World Health Organization to declare a pandemic on 12 March 2020. To date, the world has paid a high toll in this pandemic in terms of human lives lost, economic repercussions and increased poverty. In this review, we provide information regarding the epidemiology, serological and molecular diagnosis, origin of SARS-CoV-2 and its ability to infect human cells, and safety issues. Then we focus on the available therapies to fight COVID-19, the development of vaccines, the role of artificial intelligence in the management of the pandemic and limiting the spread of the virus, the impact of the COVID-19 epidemic on our lifestyle, and preparation for a possible second wave