Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

ANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila functions in the Hippo pathway as a co-factor of Yorkie. Here, we delineate a neurodevelopmental disorder caused by de novo heterozygous ANKRD17 variants. The mutational spectrum of this cohort of 34 individuals from 32 families is highly suggestive of haploinsufficiency as the underlying mechanism of disease, with 21 truncating or essential splice site variants, 9 missense variants, 1 in-frame insertion-deletion, and 1 microdeletion (1.16 Mb). Consequently, our data indicate that loss of ANKRD17 is likely the main cause of phenotypes previously associated with large multi-gene chromosomal aberrations of the 4q13.3 region. Protein modeling suggests that most of the missense variants disrupt the stability of the ankyrin repeats through alteration of core structural residues. The major phenotypic characteristic of our cohort is a variable degree of developmental delay/intellectual disability, particularly affecting speech, while additional features include growth failure, feeding difficulties, non-specific MRI abnormalities, epilepsy and/or abnormal EEG, predisposition to recurrent infections (mostly bacterial), ophthalmological abnormalities, gait/balance disturbance, and joint hypermobility. Moreover, many individuals shared similar dysmorphic facial features. Analysis of single-cell RNA-seq data from the developing human telencephalon indicated ANKRD17 expression at multiple stages of neurogenesis, adding further evidence to the assertion that damaging ANKRD17 variants cause a neurodevelopmental disorder

Actitudes públicas sobre la (in)seguridad energética: evidencia de España

This study investigates how citizens perceive energy security challenges, by analysing an original survey data fielded in a quota sample of Spanish citizens (n=339). Findings demonstrate that energy security in general and the affordability of household electricity prices in particular is of extremely high concern for the citizens. Older citizens in our sample are more worried about the equitable access to energy services than the younger population. Citizens with more education are more aware of energy security risks. Creating closer ties between the public and policy makers, by raising awareness on energy matters and fostering a public debate around the issue of energy security could decrease the mismatch between the energy needs of energy-users and the energy policies, and eventually alleviate energy troubles of the most disadvantaged.Este estudio investiga cómo perciben los ciudadanos los retos de la seguridad energética, analizando los datos originales de una encuesta realizada en una muestra de cuota de ciudadanos españoles (n=339). Los resultados demuestran que la seguridad energética en general y la asequibilidad de los precios de la electricidad en los hogares en particular son motivo de gran preocupación para los ciudadanos. Los ciudadanos mayores de nuestra muestra parecen estar más preocupados por el acceso equitativo a los servicios energéticos que la población más joven. Los ciudadanos con más educación parecen ser más conscientes de los riesgos de la seguridad energética. La creación de vínculos más estrechos entre el público y los responsables políticos, mediante la sensibilización sobre cuestiones energéticas y el fomento de un debate público en torno a la cuestión de la seguridad energética, podría reducir el desajuste entre las necesidades energéticas de los usuarios de energía y las políticas energéticas y, en última instancia, aliviar los problemas energéticos de los más desfavorecidos

Public Attitudes on Energy (In)Security: Evidence from Spain

status: Published onlin

Synthesis and characterization of palygorskite modified with zinc oxide

EUROCLAY 2019, Paris(France), 1st-5th July 201

Hydrothermal treatment of natural Algerian palygorskite to produce LTA zeolite

EUROCLAY 2019, Paris (France), 1st-5th July 201

Adsorption of a cationic methylene blue dye on an Algerian palygorskite

The capacity of an Algerian Tertiary sedimentary palygorskite to remove methylene blue was studied. The raw material was characterized using X-ray diffraction, infrared spectroscopy, and chemical, granulometric and micotextural analyses. Kinetic experiments were carried out to study the effect of contact time, stirring speed, initial dye concentration and adsorbent mass on the adsorption processes. The palygorskite-rich material mainly consists of this fibrous clay (72%)and calcite (19%)with minor amounts of dolomite (5%), illite (2%)and quartz (2%). After 5 min contact time at room temperature, the adsorption reaction of a 50 mL solution containing 10 ppm of methylene blue on 50 mg of Cal-Pal as adsorbent reached equilibrium, and 97% of cationic dye was fixed. Temperature did not have a significant influence on methylene blue adsorption. The obtained adsorption isotherm indicates high affinity between the adsorbent and the adsorbate. The use of the studied Algerian palygorskite-rich sediment may have great potential for the elimination of textile dyes.The authors acknowledge funding from the FP7 Marie-Curie Action IRSES-MEDYNA , action under grant number PIRSES-GA-2013-612572 . The revisions made by Dr. Massimo Setti (Univ. Pavia, Italy) and one anonymous referee have greatly improved the manuscript

Synthesis and characterization of zeolite LTA by hydrothermal transformation of a natural Algerian palygorskite

A palygorskitic-rich Algerian clay (Sif Pal) has been selected as Si source to synthesize zeolite LTA through a hydrothermal treatment by using sodium aluminate. Sif Pal is activated under reflux using hydrochloric acid solutions at different concentrations (4, 6 and 7 mol.L) in a ratio of 50 g.L and then analysed using XRD, SEM and XRF analysis. The selected product (PalH1) is mixed with NaOH solutions at different concentrations (1, 2, 3, 4 and 5 mol.L), diverse NaAlO quantities (1, 2, 3 and 5 g) and analysed after several nucleation (1, 2, 3 and 5 h) and crystallization (6, 18 and 24 h) times to check the influence of these parameters on the synthesis of zeolite LTA. To obtain almost pure (> 98%) zeolite LTA, the better experimental conditions were: 3 mol.L of NaOH solutions, 3 g of sodium aluminate, 3 h for nucleation and 24 h for crystallization.he authors acknowledge funding from the FP7 Marie-Curie Action IRSES-MEDYNA action under GA PIRSES-GA-2013-61257

Specialisti ambulatoriali interni: il quadro normativo e le possibili prospettive future

. L'evoluzione del contesto sociale, con particolare riguardo all'aumento delle esigenze di cura delle persone anziane richiede una evoluzione della organizzazione della sanità. Rispetto alla necessità di questa evoluzione è qui analizzata la figura del medico specialista ambulatoriale. In particolare ci si sofferma sul tema, che appare critico nella prospettiva adottata, del regime della incompatibilità. L'analisi è condotta de Jure condendo sottolineando che le regole dell'incompatibilità non sono adeguate ad una realtà ove vi sono convenzioni di poichissime ore settimanali. De Jure condito è possibile una interpretazione evolutiva della legislazione tale da riconoscere maggiore autonomia alla contrattazione collettiva, ed una valorizzazione dello strumento dell'autorizzazione al fine di evitare possibili conflitti di interesse

Preparation and physicochemical characterization of Chitosan Algerian Palygorskite composite beads as drug carriers

EUROCLAY 2019, Paris (France), 1st-5th July 201

Crosslinked palygorskite-chitosan beads as diclofenac carriers

Beads are versatile spherical drug delivery units that can be coated, filled into capsules or compressed as tablets to be orally administered. Crosslinking of chitosan (CS) and polyanions such as tripolyphosphate (TPP) results in beads with mechanical properties that could be improved by the addition of clay mineral particles to the bead network. Hybrid systems of palygorskite and chitosan have been shown to have advanced properties in biomedical applications as a result of the synergic effects of their combination. In this paper chitosan was intercalated with palygorskite (Pal) and the resultant hybrid was loaded with diclofenac, an anti-inflammatory drug. Chitosan (CS) beads crosslinked with sodium tripolyphosphate (TPP) were prepared and their properties compared to palygorskite/Chitosan (Pal/CS) beads. The synergic effects resulting from the clay/polymer hybrids were evaluated by means of X-ray diffraction (XRD), Fourier transform infrared spectroscopy (FTIR), scanning transmission electron microscopy (SEM) and thermal analysis (thermogravimetric analysis, TGA, and differential scanning calorimetry, DSC). The results showed that chitosan and palygorskite interaction took place. Diclofenac sodium (DFNa) was used as model drug to reveal the effects of Pal within the bead structure. DFNa was successfully loaded into beads and FTIR analyses confirmed its presence. A drug release test was carried out in phosphate buffer medium (pH. 6.8). The results indicated that only 33% (w/w) of total drug was released from DFNa-Pal/CS compared to 66% (w/w) from DFNa-CS. The total amount of drug released fell significantly with the addition of palygorskite to the chitosan matrix. Pal/CS beads crosslinked with TPP were shown to be able of carrying diclofenac sodium, meaning they could possibly be used as drug carriers.This research was supported by funding from the Spanish group CTS-946 and projects CGL2016-80833-R and PTQ-15-07625. Youcef Yahia's stay at the Andalusian Institute of Earth Sciences was financed by MESRS ALGERIA