The time has come to look for metabolic dysfunction-associated fatty liver disease in adult patients with type 1 Gaucher disease

MAFLD is highly prevalent in Gaucher type 1 adult patients as well as in the general population and may worsen liver disease progression. Hepatic complications should be followed up. A healthy lifestyle and therapies of cardiometabolic risk factors should be recommended in Gaucher disease patients

Ocular Refraction at Birth and Its Development During the First Year of Life in a Large Cohort of Babies in a Single Center in Northern Italy

The purpose of this study was to investigate refraction at birth and during the first year of life in a large cohort of babies born in a single center in Northern Italy. We also aimed to analyze refractive errors in relation to the gestational age at birth. An observational ophthalmological assessment was performed within 24 h of birth on 12,427 newborns. Refraction was examined using streak retinoscopy after the administration of tropicamide (1%). Values in the range of between +0.50 ≤ D ≤ +4.00 were defined as physiological refraction at birth. Newborns with refraction values outside of the physiological range were followed up during the first year of life. Comparative analyses were conducted in a subgroup of babies with known gestational ages. The following distribution of refraction at birth was recorded: 88.03% of the babies had physiological refraction, 5.03% had moderate hyperopia, 2.14% had severe hyperopia, 3.4%, had emmetropia, 0.45%, had myopia, 0.94% had astigmatism, and 0.01% had anisometropia. By the end of the first year of life, we observed reductions in hyperopia and astigmatism, and stabilization of myopia. Preterm babies had a four-fold higher risk of congenital myopia and a three-fold higher risk of congenital emmetropia as compared to term babies. Refraction profiles obtained at birth changed during the first year of life, leading to a normalization of the refraction values. Gestational age at birth affected the incidence of refractive errors and amblyopia

Evolving Diversity II: Participation of students with an immigrant background in European Higher Education

EQUNET is a 3-year project researching the state of equity in Higher Education in Europe. The project aims to create an evidence-based policy advocacy network, so as to promote its conclusions as a way to promote better-informed policy making on equity issues in Europe. This is the second of three reports, and is dedicated to improving the picture of equity in access to Higher Education in Europe for persons of immigrant origin. The report provides a theoretical framework for discussion of the topic, a statistical cross-country analysis of access-figures, as well as detailed country-studies for Germany, Norway and the United Kingdom. It is the result of a year of research conducted by a multi-disciplinary team of researchers originating from across Europe. (DIPF/Orig.

Relaunching the Open Education Policy Registry

Post on OER World Map Blog providing an update on the development of the OE Policy Registry

Openness in Teachers' Digital Competence Frameworks: Looking for the Open Educator

There has been a wide variety of definitions of digital competence, from early narrow and technology-focused explanations to more recent attempts , such as the one by Ferrari (2013), who describes it as a complex concept encompassing a wide set of skills, attitudes and knowledge when performing tasks with Information and Communication Technologies (ICT). Furthermore, there have been various different attempts to describe teachers’ digital competence, as the literature review by McGarr and McDonagh (2019) demonstrates. These authors evidence that models either depict teachers’ digital competence in diverse taxonomies of areas and dimensions, or as a hierarchical and progressive evolution from low to high levels of awareness and ability. They observe that openness does not have a presence in most of the taxonomic models and thus they propose openness as a dimension of their four-part model, under the label of attitudes. In this current work, we analyse international and national teachers’ digital competence frameworks and review whether openness has been included in them, and, if so, how it is described. In the case of frameworks that offer a model of increasing performance, we observe the levels at which open-related concepts appear. An initial review of the frameworks by the European Commission, UNESCO, ISTE (US) and INTEF (Spain) indicates that ‘openness’ typically does not constitute a dimension in itself and tends to appear at intermediate and high levels of teachers’ digital competence, except from the UNESCO framework, where access to OER (Open Educational Resources) is present already at the lowest level. In this paper we reflect on the need for international and national frameworks of teacher professional development to boost openness: in particular, for open educational practices to be included at lower levels of teachers’ pre-service and in-service professional education. We argue that becoming an open educator requires both the development of the dispositions associated with reflective practice and the confidence to challenge neo-liberal educational assumptions in order to embrace participatory, equitable and open educational practices from the early stages of the development of teachers’ digital competence

An HST search for planets in the lower Main Sequence of the globular cluster NGC 6397

Searches for planetary transits carried out in open and globular clusters have yielded to date only a handful of weak, unconfirmed candidates. These results have been interpreted either as being insignificant, or as evidence that the cluster chemical or dynamical environment inhibits the planetary formation or survival. Most campaigns were limited by small sample statistics or systematics from ground-based photometry. In this work we performed a search for transiting planets and variables in a deep stellar field of NGC 6397 imaged by HST-ACS for 126 orbits. We analyzed 5,078 light curves, including a pure sample of 2,215 cluster-member M0-M9 dwarfs. The light curves have been corrected for systematic trends and inspected with several tools. No high-significance planetary candidate is detected. We compared this null detection with the most recent results from Kepler, showing that no conclusive evidence of lower planet incidence can be drawn. However, a very small photometric jitter is measured for early-M cluster members (<~2 mmag on 98% of them), which may be worth targeting in the near future with more optimized campaigns. Twelve variable stars are reported for the first time.Comment: 10 pages, 6 figures, 1 table; accepted for publication in A&A on February 16, 2012. Typos corrected. One figure and a short final note adde

The M4 Core Project with HST --- I. Overview and First-Epoch

We present an overview of the ongoing Hubble Space Telescope large program GO-12911. The program is focused on the core of M4, the nearest Galactic globular cluster, and the observations are designed to constrain the number of binaries with massive companions (black holes, neutron stars, or white dwarfs) by measuring the ``wobble'' of the luminous (main-sequence) companion around the center of mass of the pair, with an astrometric precision of ~50 micro-arcseconds. The high spatial resolution and stable medium-band PSFs of WFC3/UVIS will make these measurements possible. In this work we describe: (i) the motivation behind this study, (ii) our observing strategy, (iii) the many other investigations enabled by this unique data set, and which of those our team is conducting, and (iv) a preliminary reduction of the first-epoch data-set collected on October 10, 2012.Comment: 25 pages, 14 figures (9 at low resolution), 3 tables. Published in: Astronomische Nachrichten, Volume 334, Issue 10, pages 1062-1085, December 2013. http://onlinelibrary.wiley.com/doi/10.1002/asna.201311911/abstrac

Colon cancer in a 12-year-old girl with hypertriglyceridemia

Colorectal cancer is usually considered a disease of the elderly; however, in a small fraction of patients (2%-3% of all affected individuals), colorectal malignancies may develop earlier. The reasons whereby some individuals develop colorectal cancer at a young age are poorly understood. In a 12-year-old girl, a malignancy was diagnosed in the ascending colon. There was no familial history of Lynch syndrome or familial adenomatous polyposis. The metabolic profile of the patient revealed hypertriglyceridemia and low high-density lipoprotein cholesterol levels at nine years, then diagnosed as familial hypertriglyceridemia due to a constitutional mutation in the APOA5 gene (c.427delC). Moreover, variants possibly increasing the risk of cancer were detected in MSH6 (c.3438+11_3438+14delCTTA, intron 5) and APC (I1307K). The patient showed a rather unusual dietary pattern, since her basic alimentation from weaning consisted almost exclusively of meat homogenates and, subsequently, roasted meat or cutlets. Other foods, including fish, vegetables, sweets, and pasta, were refused. In this case, genetic and environmental factors could have acted in a particularly accelerated manner. Indeed, the genetic background of the patient (familial hypertriglyceridemia and polymorphisms predisposing to colorectal cancer) may have favored a dietary-driven colorectal carcinogenesis, resulting in an extremely early onset development of malignancy

The GAPS Programme with HARPS-N at TNG. III: The retrograde orbit of HAT-P-18b

The measurement of the Rossiter-McLaughlin effect for transiting exoplanets places constraints on the orientation of the orbital axis with respect to the stellar spin axis, which can shed light on the mechanisms shaping the orbital configuration of planetary systems. Here we present the interesting case of the Saturn-mass planet HAT-P-18b, which orbits one of the coolest stars for which the Rossiter-McLaughlin effect has been measured so far. We acquired a spectroscopic time-series, spanning a full transit, with the HARPS-N spectrograph mounted at the TNG telescope. The very precise radial velocity measurements delivered by the HARPS-N pipeline were used to measure the Rossiter-McLaughlin effect. Complementary new photometric observations of another full transit were also analysed to obtain an independent determination of the star and planet parameters. We find that HAT-P-18b lies on a counter-rotating orbit, the sky-projected angle between the stellar spin axis and the planet orbital axis being lambda=132 +/- 15 deg. By joint modelling of the radial velocity and photometric data we obtain new determinations of the star (M_star = 0.770 +/- 0.027 M_Sun; R_star= 0.717 +/- 0.026 R_Sun; Vsin(I_star) = 1.58 +/- 0.18 km/s) and planet (M_pl = 0.196 +/- 0.008 M_J; R_pl = 0.947 +/- 0.044 R_J) parameters. Our spectra provide for the host star an effective temperature T_eff = 4870 +/- 50 K, a surface gravity of log(g_star) = 4.57 +/- 0.07 cm/s, and an iron abundance of [Fe/H] = 0.10 +/- 0.06. HAT-P-18b is one of the few planets known to transit a star with T_eff < 6250 K on a retrograde orbit. Objects such as HAT-P-18b (low planet mass and/or relatively long orbital period) most likely have a weak tidal coupling with their parent stars, therefore their orbits preserve any original misalignment. As such, they are ideal targets to study the causes of orbital evolution in cool main-sequence stars.Comment: 5 pages, 2 figure