The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with a major prevalence in Canada, Italy and Japan. Acute clinical signs include intermittent episodes of vomiting, confusion or coma and hepatitis-like attacks. Alternatively, patients show a chronic course with aversion for protein rich foods, developmental delay/intellectual disability, myoclonic seizures, ataxia and pyramidal dysfunction. HHH syndrome is caused by impaired ornithine transport across the inner mitochondrial membrane due to mutations in SLC25A15 gene, which encodes for the mitochondrial ornithine carrier ORC1. The diagnosis relies on clinical signs and the peculiar metabolic triad of hyperammonemia, hyperornithinemia, and urinary excretion of homocitrulline. HHH syndrome enters in the differential diagnosis with other inherited or acquired conditions presenting with hyperammonemia

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

Background: Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including FOXG1(*164874), NKX2-1(*600635), and PAX9(*167416) and a distal region (RO2), including NKX2-1 and PAX9. We report a 6-year-old boy with mild dysmorphic facial features, global developmental delay, and hypoplasia of the corpus callosum. Methods and Results: Array-CGH analysis revealed a 14q12q13.2 microdeletion. We compared the phenotype of our patient with previously published cases in order to establish a genotype–phenotype correlation. Conclusion: The study hypothesizes the presence of a new RO, not including the previously reported candidate genes, and attempt to define the associated molecular and psychomotor/neurobehavioral phenotype. This region encompasses the distal breakpoint of RO1 and the proximal breakpoint of RO2, and seems to be associated with intellectual disability (ID), hypotonia, epilepsy, and corpus callosum abnormalities. Although more cases are needed, we speculated on SNX6(*606098) and BAZ1A(*605680) as potential candidate genes associated with the corpus callosum abnormalities

Preparation and characterisation of calcined Mg/Al hydrotalcites impregnated with alkaline nitrate and their activities in the combustion of particulate matter

The effect of incorporating alkaline nitrates in hydrotalcites for use in the combustion of particulate matter from diesel emissions has been studied. The catalysts were characterised by X-ray diffraction (XRD), N2 adsorption, scanning electron microscopy (SEM), X-ray photoelectron spectroscopy (XPS), elemental analysis (EA), atomic absorption spectrophotometry (AAS) temperature programmed reduction (TPR) and Fourier transform infrared spectroscopy (FTIR). Activity measurements were carried out using a thermobalance in air and using a fixed-bed reactor with a NO/O2 flow. The observed activities decreased in the following order: HTMgAlcCs > HTMgAlcK > HTMgAlcLi > HTMgAlc.Fil: Comelli, Nora Alejandra. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico San Luis. Instituto de Investigaciones en Tecnología Química; ArgentinaFil: Ruiz, Maria Lucia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico San Luis. Instituto de Investigaciones en Tecnología Química; ArgentinaFil: Merino, Nora Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico San Luis. Instituto de Investigaciones en Tecnología Química; ArgentinaFil: Lick, Ileana Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico La Plata. Centro de Investigación y Desarrollo en Ciencias Aplicadas; ArgentinaFil: Rodríguez Castellón, E.. Universidad de Málaga. Facultad de Ciencias. Departamento de Química Inorgánica, Cristalografía y Mineralogía; EspañaFil: Jiménez López, A.. Universidad de Málaga. Facultad de Ciencias. Departamento de Química Inorgánica, Cristalografía y Mineralogía; EspañaFil: Ponzi, Marta Isabel

Preparation and characterisation of calcined Mg/Al hydrotalcites impregnated with alkaline nitrate and their activities in the combustion of particulate matter

The effect of incorporating alkaline nitrates in hydrotalcites for use in the combustion of particulate matter from diesel emissions has been studied. The catalysts were characterised by X-ray diffraction (XRD), N2 adsorption, scanning electron microscopy (SEM), X-ray photoelectron spectroscopy (XPS), elemental analysis (EA), atomic absorption spectrophotometry (AAS) temperature programmed reduction (TPR) and Fourier transform infrared spectroscopy (FTIR). Activity measurements were carried out using a thermobalance in air and using a fixed-bed reactor with a NO/O2 flow. The observed activities decreased in the following order: HTMgAlcCs>HTMgAlcK>HTMgAlcLi>HTMgAlc.Centro de Investigación y Desarrollo en Ciencias Aplicada

Studies of the limit order book around large price changes

We study the dynamics of the limit order book of liquid stocks after experiencing large intra-day price changes. In the data we find large variations in several microscopical measures, e.g., the volatility the bid-ask spread, the bid-ask imbalance, the number of queuing limit orders, the activity (number and volume) of limit orders placed and canceled, etc. The relaxation of the quantities is generally very slow that can be described by a power law of exponent $\approx0.4$. We introduce a numerical model in order to understand the empirical results better. We find that with a zero intelligence deposition model of the order flow the empirical results can be reproduced qualitatively. This suggests that the slow relaxations might not be results of agents' strategic behaviour. Studying the difference between the exponents found empirically and numerically helps us to better identify the role of strategic behaviour in the phenomena.Comment: 19 pages, 7 figure

Klassische Moderne. Un paradigma del Novecento

Il libro, che pubblica gli atti del convegno internazionale, svoltosi a Roma nel maggio del 2007 nell’ambito della ricerca PRIN-2005 (Università di Roma La Sapienza, Trento, Bari e Urbino), analizza il periodo della cultura tedesca della fine-secolo con particolare attenzione ai personaggi e ai movimenti che si sono collocati negli “spazi intermedi”, intesi non solo e non tanto come zone di confine in senso territoriale, quanto piuttosto come zone di interscambio culturale e disciplinare, come tentativi di “superamento” degli ordini mentali e culturali costituiti. L’ambito cronologico che il gruppo di ricerca prende in esame va da 1888 al 1933. La periodizzazione proposta vuole rinviare a quella serie di movimenti e di pensatori che hanno dato il via alla messa in discussione di quei valori costituiti, dalla cui frammentazione è nata la cultura del “secolo breve”. In questo periodo, a partire dalla Jahrhundertwende, sono state elaborate e sperimentate nella prassi letteraria e artistica, una serie di teorie, una serie di “visioni del mondo” che implicavano tanto una pratica produttiva quanto un ruolo dell’artista e dell’arte quanto una visione più generale dei cambiamenti epocali e dell’epoca moderna. Tali teorie e pratiche artistiche, di vario genere e di vario livello, costituiscono un patrimonio concettuale perché in esse si trovano sperimentate e a volte anticipate molte questioni che oggi sono di estrema attualità: dal rapporto uomo-macchina al rapporto parola-immagine, dalla definizione degli spazi urbani alla questione della guerra, dalla ricerca della identità monoculturale alla presa d’atto dell’esistenza dell’estraneo. Queste varie problematiche sono state espresse in termini linguistici nuovi giacché gli autori si sono posti – teoricamente e praticamente – il problema del linguaggio artistico e ne hanno modificato (a volte radicalmente) i codici espressivi. Il libro di divide in tre parti: I: Per una definizione della Klassische Moderne che presenta l’ampia e animata discussione sulla stessa definizione teorica del movimento artistico-culturale, sia sui termini cronologici di questa nuova periodizzazione. Questa parte raccoglie i contributi di Aldo Venturelli, Helmut Kiesel e Fabrizio Cambi. II: La rivoluzione delle forme, che analizza la produzione delle avanguardie (sia pure definite “marginali” ) e prende in considerazione anche aspetti della produzione musicale, nonché forme di narratologia e nuove forme di scrittura. Questa seconda parte pubblica i saggi di Mauro Ponzi, Rosmarie Keller, Silvio Vietta, Hans Dieter Zimmermann, Elio Matassi e Sabine Meine. III: La fucina dei nuovi linguaggi che analizza l’innovazione dei linguaggi artistici sull’esempio di autori meno radicali che quelli delle avanguardie storiche. Questi autori, tipici esponenti della Klassische Moderne, hanno cercato di coniugare l’innovazione dei linguaggi con il recupero di alcuni aspetti della tradizione. Nella terza parte del volume vengono pubblicati i saggi di Alain Montandon, Giovanni Tateo, Gouseppe Farese, Gabriella Rovagnati, Sabine Schneider e Alessandro Fambrini

Improved Selective Class i HDAC and Novel Selective HDAC3 Inhibitors: Beyond Hydroxamic Acids and Benzamides

The application of class I HDAC inhibitors as cancer therapies is well established, but more recently their development for nononcological indications has increased. We report here on the generation of improved class I selective human HDAC inhibitors based on an ethylketone zinc binding group (ZBG) in place of the hydroxamic acid that features the majority of HDAC inhibitors. We also describe a novel set of HDAC3 isoform selective inhibitors that show stronger potency and selectivity than the most commonly used HDAC3 selective tool compound RGFP966. These compounds are again based on an alternative ZBG with respect to the ortho-anilide that is featured in HDAC3 selective compounds reported to date

Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects

mTOR dysregulation has been described in pathological conditions, such as cardiovascular and overgrowth disorders. Here we report on the first case of a patient with a complex congenital heart disease and an interstitial duplication in the short arm of chromosome 1, encompassing part of the mTOR gene. Our results suggest that an intragenic mTOR microduplication might play a role in the pathogenesis of non-syndromic congenital heart defects (CHDs) due to an upregulation of mTOR/Rictor and consequently an increased phosphorylation of PI3K/AKT and MEK/ERK signaling pathways in patient-derived amniocytes. This is the first report which shows a causative role of intragenic mTOR microduplication in the etiology of an isolated complex CHD

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3

Split-Hand/Foot Malformation type 3 (SHFM3) is a congenital limb malformation associated with tandem duplications at the LBX1/FGF8 locus. Yet, the disease patho-mechanism remains unsolved. Here we investigated the functional consequences of SHFM3-associated rearrangements on chromatin conformation and gene expression in vivo in transgenic mice. We show that the Lbx1/Fgf8 locus consists of two separate, but interacting, regulatory domains. Re-engineering of a SHFM3-associated duplication and a newly reported inversion in mice resulted in restructuring of the chromatin architecture. This led to an ectopic activation of the Lbx1 and Btrc genes in the apical ectodermal ridge (AER) in an Fgf8-like pattern. Artificial repositioning of the AER-specific enhancers of Fgf8 was sufficient to induce misexpression of Lbx1 and Btrc. We provide evidence that the SHFM3 phenotype is the result of a combinatorial effect on gene misexpression and dosage in the developing limb. Our results reveal new insights into the molecular mechanism underlying SHFM3 and provide novel conceptual framework for how genomic rearrangements can cause gene misexpression and disease

Preparation and characterisation of calcined Mg/Al hydrotalcites impregnated with alkaline nitrate and their activities in the combustion of particulate matter

The effect of incorporating alkaline nitrates in hydrotalcites for use in the combustion of particulate matter from diesel emissions has been studied. The catalysts were characterised by X-ray diffraction (XRD), N2 adsorption, scanning electron microscopy (SEM), X-ray photoelectron spectroscopy (XPS), elemental analysis (EA), atomic absorption spectrophotometry (AAS) temperature programmed reduction (TPR) and Fourier transform infrared spectroscopy (FTIR). Activity measurements were carried out using a thermobalance in air and using a fixed-bed reactor with a NO/O2 flow. The observed activities decreased in the following order: HTMgAlcCs>HTMgAlcK>HTMgAlcLi>HTMgAlc.Centro de Investigación y Desarrollo en Ciencias Aplicada