Reading and spelling impairments in children and adolescents with infantile myotonic dystrophy

Abstract This study investigated reading and spelling difficulties in subjects with the juvenile form of myotonic dystrophy (MD). Twenty-three consecutive patients with juvenile MD who were referred to a special clinic were assessed for reading and spelling skills (phonological processing, word identification, narrative comprehension (two tasks), information seeking in a document (TV schedule), and spelling). Reading impairments were frequent (63-84% of the subjects being below the level of literacy depending on the tasks), even in subjects without mental retardation (22-66%) despite normal word identification scores. All but two subjects had spelling difficulties. The severity of these learning difficulties was correlated with longer mutation size and maternal transmission, but could not be related to phonological deficit, suggesting that other brain dysfunction might be involved (e.g., attention, working memory, naming speed, executive function). Children with the juvenile form of MD should systematically be assessed for reading and spelling problems, and correlations with basic cognitive functioning explored.

Old age and supersolar metallicity in a massive z ∼ 1.4 early-type galaxy from VLT/X-Shooter spectroscopy

We present the first estimate of age, stellar metallicity and chemical abundance ratios, for an individual early-type galaxy at high-redshift (z = 1.426) in the COSMOS (Cosmological Evolution Survey) field. Our analysis is based on observations obtained with the X-Shooter instrument at the Very Large Telescope (VLT), which cover the visual and near-infrared spectrum at high (R > 5000) spectral resolution. We measure the values of several spectral absorptions tracing chemical species, in particular magnesium and iron, besides determining the age-sensitive D4000 break. We compare the measured indices to stellar population models, finding good agreement. We find that our target is an old (t > 3 Gyr), high-metallicity ([Z/H] > 0.5) galaxy which formed its stars at zform >5 within a short time-scale ∼0.1 Gyr, as testified by the strong [α/Fe] ratio (>0.4), and has passively evolved in the first >3-4 Gyr of its life. We have verified that this result is robust against the choice and number of fitted spectral features, and stellar population model. The result of an old age and high-metallicity has important implications for galaxy formation and evolution confirming an early and rapid formation of the most massive galaxies in the Universe

Increased expression of urokinase plasminogen activator and its cognate receptor in human seminomas

<p>Abstract</p> <p>Background</p> <p>The urokinase plasminogen activating system (uPAS) is implicated in neoplastic progression and high tissue levels of uPAS components correlate with a poor prognosis in different human cancers. Despite that, relative few studies are available on the expression and function of the uPAS components in human seminomas. In the present study we characterized the expression of the urokinase plasminogen activator (uPA), its cognate receptor (uPAR) and the uPA inhibitors PAI-1 and PAI-2 in normal human testis and seminomas.</p> <p>Methods</p> <p>The expression of the above genes was evaluated by means of quantitative RT-PCR, western blot, zymographic analysis and immunohistochemistry.</p> <p>Results</p> <p>Quantitative RT-PCR analysis of 14 seminomas demonstrated that uPA and uPAR mRNAs were, with respect to control tissues, increased in tumor tissues by 3.80 ± 0.74 (p < 0.01) and 6.25 ± 1.18 (p < 0.01) fold, respectively. On the other hand, PAI-1 mRNA level was unchanged (1.02 ± 0.24 fold), while that of PAI-2 was significantly reduced to 0.34 ± 0.18 (p < 0.01) fold. Western blot experiments performed with protein extracts of three seminomas and normal tissues from the same patients showed that uPA protein levels were low or undetectable in normal tissues and induced in tumor tissues. On the same samples, zymographic analysis demonstrated increased uPA activity in tumor tissue extracts. Western blot experiments showed that also the uPAR protein was increased in tumor tissues by 1.83 ± 0.15 fold (p < 0.01). The increased expression of uPA and uPAR was further confirmed by immunohistochemical staining performed in 10 seminomas and autologous uninvolved peritumoral tissues. Finally, variation in the mRNA level of PAI-1 significantly correlated with tumor size.</p> <p>Conclusions</p> <p>We demonstrated the increased expression of uPA and uPAR in human seminomas with respect to normal testis tissues, which may be relevant in testicular cancer progression.</p

Energy Resolution Performance of the CMS Electromagnetic Calorimeter

The energy resolution performance of the CMS lead tungstate crystal electromagnetic calorimeter is presented. Measurements were made with an electron beam using a fully equipped supermodule of the calorimeter barrel. Results are given both for electrons incident on the centre of crystals and for electrons distributed uniformly over the calorimeter surface. The electron energy is reconstructed in matrices of 3 times 3 or 5 times 5 crystals centred on the crystal containing the maximum energy. Corrections for variations in the shower containment are applied in the case of uniform incidence. The resolution measured is consistent with the design goals

Scaling relations of early-type galaxies at 1 < z

We studied the scaling properties of a sample of 65 ETGs at 1 < z < 2 with spectroscopic confirmation of their redshift and spectral type. The sample collects proprietary (Longhetti et al. 2007) and archival HST data and it is composed of 30 ETGs with HST-NICMOS observations (see Saracco et al. 2009) and of 35 ETGs from the GOODS-South field covered by HST-ACS observations. The whole sample is covered also by ground-based optical and near-IR observations while complementary mid-IR data (Spitzer or AKARI) are available for 45 galaxies. The study of the Kormendy, the size-luminosity and the size-mass relations of these ETGs shows that a large fraction (~50%) of them follows the local relations. These 'normal' ETGs are not smaller (denser) than their local counterparts with comparable stellar mass, luminosity and surface brightness and no size evolution is required for them. On the contrary, the remaining half of the sample is composed of very compact ETGs with sizes (densities) 2.5-3 (15-30) times smaller (higher) than the other ETGs and than local ETGs. Thus, not all the high-z ETGs are superdense and, consequently, only some of them must experience size evolution showing that the evolutionary path of ETGs at 0 < z < 2 is not univocal. We also find that the stellar population of normal ETGs formed at 1.5 < zform < 3 while it formed at 2 < zform < 9 in compact ETGs. This suggests that different histories of mass assembly must take place at high-z to produce both the normal and the superdense ETGs seen at 1 < z < 2 (Saracco et al. 2010)

Oltre La Violenza ai tempi dell’emergenza Covid-19

This article concerns the reorganization of the experimental project "Oltre la violenza" (Asl Napoli 1 Centro) in the time of the Covid-19 pandemic. Specifically, we present the methodology "The 4 Steps Beyond Violence", expanding the analysis of legislative references, scientific literature, premises that inform us as a working group, to the topic of violence against women as an emergency in the emergency WHO (2020), UNO (2020). We will also talk about online interventions with the aim of giving voice to the complexity of male point of view.In questo articolo raccontiamo la rimodulazione del progetto sperimentale “Oltre la violenza” dell’Asl Napoli 1 Centro, ai tempi dell’emergenza Covid-19. Nello specifico, presentiamo la metodologia “I 4 Passi Oltre La Violenza”, allargando l’analisi dei riferimenti legislativi, della letteratura scientifica, delle premesse che ci informano come gruppo di lavoro, al tema della violenza contro le donne come emergenza nell’emergenza OMS (WHO, 2020), ONU (2020). Ci occuperemo, inoltre, di raccontare la progettazione di interventi online con l’obiettivo di dar voce alla complessità del fenomeno. &nbsp; &nbsp

Resting respiratory lung volumes are &quot;healthier&quot; than exercise respiratory volumes in different types of palliated or corrected congenital heart disease

Aims: Cardiac surgery has improved life expectancy of patients with congenital heart diseases (CHDs). Exercise capacity is an important determinant of survival in patients with CHDs. There is a lack of studies focusing on the role of resting respiratory performance in reducing exercise tolerance in these patients. Objectives: To determine the prevalence and severity of respiratory functional impairment in different types of corrected/palliated CHDs, and its impact on an exercise test. Materials and methods: Retrospective single-center study involving 168 corrected/palliated patients with CHD and 52 controls. Patients CHD were divided into subgroups according to the presence of native pulmonary blood flow or total cavopulmonary connection (TCPC). All subjects performed complete pulmonary function tests and gas diffusion; patients with CHD also performed cardiopulmonary exercise test (CPX). Results: Mean values of lung volumes were within the normal range in all CHD groups. Comparing to controls, patients with the reduced pulmonary flow and with TCPC had the highest reduction in lung volumes. CPX was reduced in all groups, most severely in TCPC, and it was correlated to decreased dynamic volumes in all CHD groups except in TCPC. Younger age at intervention and number of surgical operations negatively affected lung volumes. Conclusions: Respiratory function is within the normal range in our patients with different CHDs at rest but altered in all CHDs during exercise when cardiorespiratory balance is likely to be inadequate. Comparing the different groups, patients with reduced pulmonary flow and TCPC are the most impaired

Tackling psychosocial maladjustment in Parkinson's disease patients following subthalamic deep-brain stimulation: A randomised clinical trial

Subthalamic nucleus deep brain stimulation (STN-DBS) is an effective treatment for the motor and non-motor signs of Parkinson's disease (PD), however, psychological disorders and social maladjustment have been reported in about one third of patients after STN-DBS. We propose here a perioperative psychoeducation programme to limit such social and familial disruption

Clinical pathway for patients with Chronic Myeloid Leukaemia: The Euriclea Project

The use of Tirosine Kinase Ihnibitors (TKIs) for the treatment of Chronic Myeloid Leukemia (CML) has definitely represented a turning point in the treatment of the onco-hematological diseases. Over the years, the interest of physicians, nurses, patients and caregivers has increasingly focused on the aspects of the humanization of care, the management of side effects and on the full and constant therapeutic adherence. The aim of the project was to define patient-oriented care processes, based on a proactive approach that can fully respond to the new health needs of CML patients