Search results for "43"

Sturge-Weber syndrome: a report of 14 cases

2013

Sturge-Weber-Krabe syndrome (SWS), also known as encephalotrigeminalangiomatosis and named the forthfacomatosis, recall the names of the authors who first describedit in its basic clinical, radiological andanatomopathological aspects. We report here 14 cases of Sturge-Weber disease. In 6 of these, despite what had been previously described in literature, an extension of the angioma has been noted in other parts of the body. The study of these subjects stresses not only the need for a pharmacological/neuropsychomotor intervention, but alsothe need of a psychotherapeutic approach, for the emotional and affective implications thatcould derive from this syndrome. The reported cases are similar …

Downscaling and improving the wind forecasts from NWP for wind energy applications using support vector regression

2020

Abstract The stochastic nature of wind poses challenges in the large scale integration of wind energy with the grid. Wind characteristics at a site may significantly vary with time. which will be reflected on the wind power production. Understanding and managing such variations could be challenging for wind farm owners. energy traders and grid operators. In this work. we propose models based on support vector regression (SVR) to downscale the speed and direction of wind at a specific site using both historical observed measurements and numerical weather predictions (NWP). Several meteorological variables. considered to have potential influence on the wind. were used in the feature selection…

Optical counterpart to Swift J0243.6+6124

2020

Context. Swift J0243.6+6124 is a unique system. It is the first and only ultra-luminous X-ray source in our Galaxy. It is the first and only high-mass Be X-ray pulsar showing radio jet emission. It was discovered during a giant X-ray outburst in October 2017. While there are numerous studies in the X-ray band, very little is known about the optical counterpart. Aims. Our aim is to characterize the variability timescales in the optical and infrared bands in order to understand the nature of this intriguing system. Methods. We performed optical spectroscopic observations to determine the spectral type. Long-term photometric light curves together with the equivalent width of the Hα line were u…

Two-particle azimuthal correlations in photonuclear ultraperipheral Pb+Pb collisions at 5.02 TeV with ATLAS

2021

We thank CERN for the very successful operation of the LHC, as well as the support staff from our institutions without whom ATLAS could not be operated efficiently. We acknowledge the support of ANPCyT, Argentina, YerPhI, Armenia, ARC, Australia, BMWFW and FWF, Austria, ANAS, Azerbaijan, SSTC, Belarus, CNPq and FAPESP, Brazil, NSERC, NRC, and CFI, Canada, CERN and ANID, Chile, CAS, MOST, and NSFC, China, COLCIENCIAS, Colombia, MSMT CR, MPO CR, and VSC CR, Czech Republic, DNRF and DNSRC, Denmark, IN2P3-CNRS and CEA-DRF/IRFU, France, SRNSFG, Georgia, BMBF, HGF, and MPG, Germany, GSRT, Greece, RGC and Hong Kong SAR, China, ISF and Benoziyo Center, Israel, INFN, Italy, MEXT and JSPS, Japan, CNR…

A novel S379A TARDBP mutation associated to late-onset sporadic ALS

2019

Since 2008, several groups have reported a lot of dominant mutations in TARDBP gene as a primary cause of Amyotrophic lateral sclerosis (ALS). Mutations in TARDBP gene are responsible for 4–5% of familial ALS (fALS) and nearly 1% of sporadic ALS (sALS). To date, over 50 dominant mutations were found in TDP-43 in both familial and sporadic ALS patients, most of which were missense mutations in the C-terminal glycine-rich region. Herein, we describe the clinical and genetic analysis of an Italian non-familial ALS patient with a late onset and a rapid disease progression, which led to the discovery of a novel TARDBP mutation. After neurological evaluation, molecular investigation highlighted t…

The Role of TAR DNA Binding Protein 43 (TDP-43) as a CandiDate Biomarker of Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-Analysis

2023

Background: TAR DNA-binding protein 43 (TDP-43) aggregation in neuronal cells is recognized as a hallmark of amyotrophic lateral sclerosis (ALS). Although the literature strongly supports the pathogenetic role of TDP-43 in ALS pathogenesis, the role of TDP-43 as a biomarker of ALS is controversial. We performed a systematic review and meta-analysis to assess the diagnostic performance of TDP-43 for ALS. Methods: Relevant publications were identified by a systematic literature search on PubMed and Web of Science from their inception to 8 April 2022. Results: Seven studies, including 472 individuals, of whom 254 had ALS according to the Revised Amyotrophic Lateral Sclerosis Functional Rating …

Accertamento e trattamento sanitario obbligatorio

2011

Cytokine Polymorphism in Takotsubo Cardiomyopathy

2014

IMIN11. Cytokine Polymorphism in Takotsubo Cardiomyopathy P. Di Gangi1, L. Scola1, S. Giambanco1, M. Bova1, G. Santini1, L. Vaccarino1, C. R. Balistreri1, D. Lio1, P. Assennato1, S. Novo1, G. Novo1 1University of Palermo, Palermo, Italy Background: Takotsubo (TT) cardiomyopathy is characterised by an acute left ventricular dysfunction triggered by emotional or physical stresses. Clinically, the syndrome is characterised by acute symptoms mimicking acute infarction without relevant electrocardiographic and biochemical markers of myocardial damage changes. Stressful events inducing an excess catecholamine release and myocardial β-adrenergic receptors (β-AR) seem to play a major role in TT. Ac…

Telehealth modulation and new proposals during the Covid-19 pandemic: a literature review

2022

The Covid-19 pandemic has completely modified the Healthcare organization. This review aims to analyze the evolution of the different Telemedicine areas during pandemic. Electronic Health Records allows accelerating the study of patients suffering from Covid-19 disease, supporting their clinical assistance. The decreasing rehabilitation programs have determined a deterioration of the patient quality of life. Teleradiology was necessary to discard the increased requests and dab the shortage of staff, and to guarantee the interaction between specialist and patient. Telecardiology was fundamental determining a reduced of secondary mortality for cardiological complications of the infection. Tel…

Retinoic Acid Induces Apoptosis-Associated Neural Differentiation of a Murine Teratocarcinoma Cell Line

2002

Abstract: Incubation with all-trans retinoic acid (RA) induces PCC7-Mz1 embryonic carcinoma cells to cease proliferation and to develop into a tissue-like pattern of neuronal, astroglial, and fibroblast-like derivatives over a period of several days. Concomitant with the induction of differentiation by RA, a sizable fraction of the Mz1 stem cells detaches and dies, with the maximal level of cell death achieved after 10 h of RA treatment. This RA-induced cell death fulfills all criteria of apoptosis, including nuclear condensation, intranucleosomal DNA degradation, expression of cysteine aspases (caspases), and the formation of apoptotic bodies. Apoptosis could be suppressed by the pan-caspa…