Genetic analysis for two italian siblings with usher syndrome and schizophrenia.

Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia. The relationship between Usher syndrome and mental disorders, most commonly a "schizophrenia-like" psychosis, is sometimes described in the literature. The etiology of psychiatric expression of Usher syndrome is still unclear. We reported a case of two natural siblings with congenital hypoacusis, retinitis pigmentosa, and psychiatric symptoms. Clinical features and genetic analysis were also reported. We analyzed possible causes to explain the high prevalence of psychiatric manifestations in Usher syndrome: genetic factors, brain damage, and "stress-related" hypothesis

Understanding the Private Worlds of Physicians, Nurses, and Parents: A Study of Life-Sustaining Treatment Decisions in Italian Paediatric Critical Care

This study's aim was to describe: (a) How life-sustaining treatment (LST) decisions are made for critically ill children in Italy; and (b) How these decisional processes are experienced by physicians, nurses and parents. Focus groups with 16 physicians and 26 nurses, and individual interviews with 9 parents were conducted. Findings uncovered the 'private worlds' of paediatric intensive care unit (PICU) physicians, nurses and parents; they all suffer tremendously and privately. Physicians struggle with the weight of responsibility and solitude in making LST decisions. Nurses struggle with feelings of exclusion from decisions regarding patients and families that they care for. Physicians and nurses are distressed by legal barriers to LST withdrawal. Parents struggle with their dependence on physicians and nurses to provide care for their child and strive to understand what is happening to their child. Features of helpful and unhelpful communication with parents are highlighted, which should be considered in educational and practice changes

An analysis of the social and economic costs of breast cancer in Italy

Background: Breast cancer is the most prevalent cancer affecting women and it represents an important economic burden. The aim of this study was to estimate the socio-economic burden of breast cancer (BC) in Italy both from the National Health Service (NHS) and the government perspectives (costs borne by the social security system). Methods: The economic analysis was based on the costs incurred by the NHS from 2008 to 2016 (direct costs related to hospitalizations) and by the National Social Security Institute (INPS) from 2009 to 2015 (costs of social security benefits) for patients with breast cancer. The analysis was based on the Hospital Information System (HIS) and Disability Insurance Awards databases. For both databases, patients affected by a malignant neoplasm of the female breast, carcinoma in situ, or secondary malignant neoplasm of the breast were considered. Results: Results show that more than 75,000 women were hospitalized for breast cancer every year, with an overall cost for hospitalization of about €300 million per year. From the Social Security analysis, a number of 29,000 beneficiaries each year was estimated. Considering per patient social costs, breast cancer at the primary stage cost €8828 per year, while secondary neoplasms cost €9780, with an average total economic burden of €257 million per year. Conclusions: This analysis focused on the economic impact of breast cancer in Italy, showing that an advanced stage of the disease was associated with a higher cost

Notulae to the Italian flora of algae, bryophytes, fungi and lichens: 13

In this contribution, new data concerning bryophytes, fungi and lichens of the Italian flora are presented. It includes new records and confirmations for the bryophyte genera Bryum, Cryphaea, Didymodon, and Grimmia; the fungal genera Bryostigma, Cercidospora, Conocybe, Cortinarius, Endococcus, Inocybe, Psathyrella, and Sphaerellothecium; the lichen genera Agonimia, Anisomeridium, Bilimbia, Diplotomma, Gyalecta, Huneckia, Lecidella, Lempholemma, Myriolecis, Nephroma, Pannaria, Pycnothelia, Pyrrhospora, Rinodina, Stereocaulon, Thalloidima, Trapelia, Usnea, Variospora, and Verrucaria

The impact of chest CT body composition parameters on clinical outcomes in COVID-19 patients

We assessed the impact of chest CT body composition parameters on outcomes and disease severity at hospital presentation of COVID-19 patients, focusing also on the possible mediation of body composition in the relationship between age and death in these patients. Chest CT scans performed at hospital presentation by consecutive COVID-19 patients (02/27/2020-03/13/2020) were retrospectively reviewed to obtain pectoralis muscle density and total, visceral, and intermuscular adipose tissue areas (TAT, VAT, IMAT) at the level of T7-T8 vertebrae. Primary outcomes were: hospitalization, mechanical ventilation (MV) and/or death, death alone. Secondary outcomes were: C-reactive protein (CRP), oxygen saturation (SO2), CT disease extension at hospital presentation. The mediation of body composition in the effect of age on death was explored. Of the 318 patients included in the study (median age 65.7 years, females 37.7%), 205 (64.5%) were hospitalized, 68 (21.4%) needed MV, and 58 (18.2%) died. Increased muscle density was a protective factor while increased TAT, VAT, and IMAT were risk factors for hospitalization and MV/death. All these parameters except TAT had borderline effects on death alone. All parameters were associated with SO2 and extension of lung parenchymal involvement at CT; VAT was associated with CRP. Approximately 3% of the effect of age on death was mediated by decreased muscle density. In conclusion, low muscle quality and ectopic fat accumulation were associated with COVID-19 outcomes, VAT was associated with baseline inflammation. Low muscle quality partly mediated the effect of age on mortality.We assessed the impact of chest CT body composition parameters on outcomes and disease severity at hospital presentation of COVID-19 patients, focusing also on the possible mediation of body composition in the relationship between age and death in these patients. Chest CT scans performed at hospital presentation by consecutive COVID-19 patients (02/ 27/2020-03/13/2020) were retrospectively reviewed to obtain pectoralis muscle density and total, visceral, and intermuscular adipose tissue areas (TAT, VAT, IMAT) at the level of T7-T8 vertebrae. Primary outcomes were: hospitalization, mechanical ventilation (MV) and/or death, death alone. Secondary outcomes were: C-reactive protein (CRP), oxygen saturation (SO2), CT disease extension at hospital presentation. The mediation of body composition in the effect of age on death was explored. Of the 318 patients included in the study (median age 65.7 years, females 37.7%), 205 (64.5%) were hospitalized, 68 (21.4%) needed MV, and 58 (18.2%) died. Increased muscle density was a protective factor while increased TAT, VAT, and IMAT were risk factors for hospitalization and MV/death. All these parameters except TAT had borderline effects on death alone. All parameters were associated with SO2 and extension of lung parenchymal involvement at CT; VAT was associated with CRP. Approximately 3% of the effect of age on death was mediated by decreased muscle density. In conclusion, low muscle quality and ectopic fat accumulation were associated with COVID-19 outcomes, VAT was associated with baseline inflammation. Low muscle quality partly mediated the effect of age on mortality

Design Economia

Strumento di riflessione e di creazione, in termini di innovazione e di progresso, il design vive nell’economia, con le sue regole e con i comportamenti che essa induce, costituendo però uno spazio del tutto originale che mette in relazione cose e persone. Gli autori mettono a confronto le proprie conoscenze dell’economia, da un lato, e del design, dall’altro, giungendo a un risultato davvero sorprendente

Sustainable structural design of tall buildings based on embodied energy

This paper deals with the environmental resources consumed to construct tall building structures; the consumption is measured by the energy required to obtain tall building structures and is expressed in terms of cradle-to-gate embodied energy. A reference structure composed of central core (made of reinforced concrete) and rigid frames (made of either reinforced concrete or steel) is considered. The reference structure is dimensioned and detailed for buildings from 20 to 70 stories; the embodied energy of each building is then estimated (total, of the components, per net rentable area). The results show that, if some design decisions are dictated by the embodied energy, the premium for height of the embodied energy is not substantial, which proves that tall building structures can be sustainable. However, a structure with the lowest weight does not imply the lowest embodied energy. The results also prove that the embodied energy depends mainly on the flooring system, and that steel consumes more embodied energy than Reinforced Concrete. Ultimately, the embodied energy is confirmed to be a viable tool to design sustainable tall buildings, and the results presented herein may address design toward minimizing the embodied energy, which means to save environmental resources

Corneal wound healing after laser vision correction

Any trauma can trigger a cascade of responses in tissues, with the purpose of safeguarding the integrity of the organ affected by the trauma and of preventing possible damage to nearby organs. Subsequently, the body tries to restore the function of the organ affected. The introduction of the excimer laser for keratorefractive surgery has changed the treatment landscape for correcting refractive errors, such as myopia, hyperopia, and astigmatism. In recent years, with the increased understanding of the basic science of refractive errors, higher-order aberrations, biomechanics, and the biology of corneal wound healing, a reduction in the surgical complications of keratorefractive surgery has been achieved. The understanding of the cascade of events involved in the corneal wound healing process and the examination of how corneal wound healing influences corneal biomechanics and optics are crucial to improving the efficacy and safety of laser vision correction

Microperimetric biofeedback in a patient with oculocutaneous albinism

[No abstract available

Extreme wind events and risk mitigation: overview and perspectives for resilient building envelopes design in the Italian context

Resilient buildings need to face many challenges in many combinations (hurricanes and high wind resistance, wildfire events, etc.) but today their design hardly includes these aspects. During extreme wind events, threats are mainly due to the detaching and flying of materials and pieces from buildings and other man-made structures: roof tiles, façade elements, antennas, etc. are dragged away becoming flying debris that endanger people and properties, hitting surrounding buildings at high speed. Therefore, wind can cause direct damages to the building envelope (building elements failure under wind loads or detachment from the source) and indirect damages (flying debris impact on other buildings). The paper deals with effects and consequences of strong wind events on the built heritage, with a focus on the Italian context, proposing risk mitigation strategies which are part of mitigation and adaptation actions to respond to current and future climate threats