IDIOPATIC LIVER RUPTURE: AN ITALIAN CASE REPORT

The liver can be damaged from an impact (such as in a car accident) or from penetrating trauma (such as a stab or gunshot wound). Liver lesions range from relatively small collections of blood (hematomas) to large deep lacerations. Since the liver is supplied with many large blood vessels, the main problem following a liver injury is severe bleeding. Almost all bleeding from a liver injury occurs in the abdominal cavity. Spontaneous rupture of the liver is a rare occurrence. This is often associated with underlying pathological conditions (pregnant women with HELLP syndrome, liver pathologies such as adenoma, hepatic lymphoma, hepatocellular carcinoma HCC, macronodular cirrhosis, hemangioma, metastatic tumors and peliosis hepatis) or following traumatic insults. The authors report a rare case of spontaneous rupture of the liver that occurred in a 72-year-old man without underlying pathologies predisposing this condition, in the absence of evident traumatic lesions in the abdominal area and with a near-negative pathological history of trauma (falls, road accidents, etc.)

Investigation into the Coupling of Micro Gas Turbines with CSP Technology: OMSoP Project☆

Abstract Solar power generation has been gaining worldwide increasing interest by virtue of its ability to meet both the growing energy needs and the increasing concerns on the carbon dioxide emissions. One of the most promising Concentrated Solar Power (CSP) technologies under development uses a parabolic dish to concentrate solar power into a focal point, raising thetemperature of a working fluid which is then used in a thermodynamic cycle to generate electricity. In the OMSoP project, funded by the European Commission, it is proposed to use a Brayton cycle in the form of a micro-gas turbine (MGT), which replaces the more conventional Stirling engine,with the aim of increasing the ratio of the electric power generated to the solar energy collected and improving the operability in relation to solar energy short time fluctuations. To achieve these objectives, research and development will be conducted in all aspects of the system leading to a full scale demonstrative plant to be located at the ENEA Casaccia Research Centre.The present work deals with the activities carried out so far by ENEA, which is principally involved in the development and experimental characterization of the dish component, and in the integration of the complete system, both in terms of modelling and realization

Medical Legal Aspects of Telemedicine in Italy: Application Fields, Professional Liability and Focus on Care Services During the COVID-19 Health Emergency

Telemedicine services can be classified into the macro-categories of specialist Telemedicine, Tele-health and Tele-assistance. From a regulatory perspective, in Italy, the first provision dedicated to the implementation of Telemedicine services is represented by the Agreement between the Government and the Regions on the document bearing “Telemedicine—National guidelines,” approved by the General Assembly of the Superior Health Council in the session of 10th July 2012 and by the State Regions Conference in the session of 20th February 2014. Scientifically, several studies in the literature state that information and communication technologies have great potential to reduce the costs of health care services in terms of planning and making appropriate decisions that provide timely tools to patients. Another clear benefit is the equity of access to health care. The evolution of telemedicine poses a series of legal problems ranging from the profiles on the subject of authorization and accreditation to those concerning the protection of patient confidentiality, the definition and solution of which, in the absence of specific regulatory provisions, is mainly left to the assessment of compatibility of the practices adopted so far, with the general regulatory framework. In terms of professional liability, it is necessary to first clarify that the telemedicine service is comparable to any diagnostic-therapeutic health service considering that the telemedicine service does not replace the traditional health service, but integrates the latter to improve its effectiveness, efficiency and appropriateness

Limited Lifespan of Fragile Regions in Mammalian Evolution

An important question in genome evolution is whether there exist fragile regions (rearrangement hotspots) where chromosomal rearrangements are happening over and over again. Although nearly all recent studies supported the existence of fragile regions in mammalian genomes, the most comprehensive phylogenomic study of mammals (Ma et al. (2006) Genome Research 16, 1557-1565) raised some doubts about their existence. We demonstrate that fragile regions are subject to a "birth and death" process, implying that fragility has limited evolutionary lifespan. This finding implies that fragile regions migrate to different locations in different mammals, explaining why there exist only a few chromosomal breakpoints shared between different lineages. The birth and death of fragile regions phenomenon reinforces the hypothesis that rearrangements are promoted by matching segmental duplications and suggests putative locations of the currently active fragile regions in the human genome

The Italian real-life post-stroke spasticity survey: Unmet needs in the management of spasticity with botulinum toxin type A

The present national survey seeking to identify unmet needs in the management of spasticity with botulinum toxin type A focused on the use of OnabotulinumoxinA, since this is the brand with the widest range of licensed indications in Italy. Physicians from twenty-four Italian neurorehabilitation units compiled a questionnaire about \u201creal-life\u201d post-stroke spasticity management. OnabotulinumtoxinA was reported to be used in the following average doses: upper limb 316.7 \ub1 79.1 units; lower limb 327.8 \ub1 152.3; upper and lower limb 543.7 \ub1 123.7 units. Of the physicians surveyed, 37.5% felt that increasing the frequency of OnabotulinumtoxinA injection would improve its efficacy; 70.8% use electrical stimulation/electromyography guidance (one fourth of injections with no instrumental guidance). Instrumental evaluation was used by 41.7% of the physicians. The participants expressed the view that early identification of post-stroke spasticity would be facilitated by the availability of a post-stroke checklist, and that this should be used by physiotherapists (91.7%), physiatrists (58.3%), family doctors (50%), stroke unit physicians (25%), patients and caregivers (79.2%). According to our findings, the management of poststroke spasticity has several unmet needs that, were they addressed, might improve these patients\u2019 clinical outcomes and quality of life. These needs concern patient follow-up, where a clearly defined pathway is lacking; furthermore, there is a need to use maximum doses per treatment and to ensure early intervention on post-stroke spasticity

YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction

Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of gene expression. We have identified 23 individuals with de novo mutations or deletions of YY1 and phenotypic features that define a syndrome of cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, and various congenital malformations. Our combined clinical and molecular data define "YY1 syndrome" as a haploinsufficiency syndrome. Through immunoprecipitation of YY1-bound chromatin from affected individuals' cells with antibodies recognizing both ends of the protein, we show that YY1 deletions and missense mutations lead to a global loss of YY1 binding with a preferential retention at high-occupancy sites. Finally, we uncover a widespread loss of H3K27 acetylation in particular on the YY1-bound enhancers, underscoring a crucial role for YY1 in enhancer regulation. Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators.Michele Gabriele, Anneke T. Vulto-van Silfhout, Pierre-Luc Germain, Alessandro Vitriolo, Raman Kumar, Evelyn Douglas, Eric Haan, Kenjiro Kosaki, Toshiki Takenouchi, Anita Rauch, Katharina Steindl, Eirik Frengen, Doriana Misceo, Christeen Ramane J. Pedurupillay, Petter Stromme, Jill A. Rosenfeld, Yunru Shao, William J. Craigen, Christian P. Schaaf, David Rodriguez-Buritica, Laura Farach, Jennifer Friedman, Perla Thulin, Scott D. McLean, Kimberly M. Nugent, Jenny Morton, Jillian Nicholl, Joris Andrieux, Asbjørg Stray-Pedersen, Pascal Chambon, Sophie Patrier, Sally A. Lynch, Susanne Kjaergaard, Pernille M. Tørring, Charlotte Brasch-Andersen, Anne Ronan, Arie van Haeringen, Peter J. Anderson, Zöe Powis, Han G. Brunner, Rolph Pfundt, Janneke H.M. Schuurs-Hoeijmakers, Bregje W.M. van Bon, Stefan Lelieveld, Christian Gilissen, Willy M. Nillesen, Lisenka E.L.M. Vissers, Jozef Gecz, David A. Koolen, Giuseppe Testa, Bert B.A. de Vrie

Uncoupling of Satellite DNA and Centromeric Function in the Genus Equus

In a previous study, we showed that centromere repositioning, that is the shift along the chromosome of the centromeric function without DNA sequence rearrangement, has occurred frequently during the evolution of the genus Equus. In this work, the analysis of the chromosomal distribution of satellite tandem repeats in Equus caballus, E. asinus, E. grevyi, and E. burchelli highlighted two atypical features: 1) several centromeres, including the previously described evolutionary new centromeres (ENCs), seem to be devoid of satellite DNA, and 2) satellite repeats are often present at non-centromeric termini, probably corresponding to relics of ancestral now inactive centromeres. Immuno-FISH experiments using satellite DNA and antibodies against the kinetochore protein CENP-A demonstrated that satellite-less primary constrictions are actually endowed with centromeric function. The phylogenetic reconstruction of centromere repositioning events demonstrates that the acquisition of satellite DNA occurs after the formation of the centromere during evolution and that centromeres can function over millions of years and many generations without detectable satellite DNA. The rapidly evolving Equus species gave us the opportunity to identify different intermediate steps along the full maturation of ENCs