Na+, K+-ATPase activity in children with autism spectrum disorder: Searching for the reason(s) of its decrease in blood cells

Na+, K+-ATPase (NKA) activity, which establishes the sodium and potassium gradient across the cell membrane and is instrumental in the propagation of the nerve impulses, is altered in a number of neurological and neuropsychiatric disorders, including autism spectrum disorders (ASD). In the present work, we examined a wide range of biochemical and cellular parameters in the attempt to understand the reason(s) for the severe decrease in NKA activity in erythrocytes of ASD children that we reported previously. NKA activity in leukocytes was found to be decreased independently from alteration in plasma membrane fluidity. The different subunits were evaluated for gene expression in leukocytes and for protein expression in erythrocytes: small differences in gene expression between ASD and typically developing children were not apparently paralleled by differences in protein expression. Moreover, no gross difference in erythrocyte plasma membrane oxidative modifications was detectable, although oxidative stress in blood samples from ASD children was confirmed by increased expression of NRF2 mRNA. Interestingly, gene expression of some NKA subunits correlated with clinical features. Excess inhibitory metals or ouabain-like activities, which might account for NKA activity decrease, were ruled out. Plasma membrane cholesterol, but not phosphatidylcholine and phosphatidlserine, was slighty decreased in erythrocytes from ASD children. Although no compelling results were obtained, our data suggest that alteration in the erytrocyte lipid moiety or subtle oxidative modifications in NKA structure are likely candidates for the observed decrease in NKA activity. These findings are discussed in the light of the relevance of NKA in ASD. Autism Research 2018. \ua9 2018 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. Lay Summary: The activity of the cell membrane enzyme NKA, which is instrumental in the propagation of the nerve impulses, is severely decreased in erythrocytes from ASD children and in other brain disorders, yet no explanation has been provided for this observation. We strived to find a biological/biochemical cause of such alteration, but most queries went unsolved because of the complexity of NKA regulation. As NKA activity is altered in many brain disorders, we stress the relevance of studies aimed at understanding its regulation in ASD

Recent deformation at Campi Flegrei caldera (Italy) detected by DinSar and leveling techniques

The Campi Flegrei caldera, a volcanic and densely populated area located to the west of Napoli (Italy), was characterized by rapid ground deformation during 1970-72 and 1982-84, for a total amount of 3.5 m in the city of Pozzuoli. Since 1985 a slow deflation was active, with episodic microcrises of uplifts. A new and consistent uplift event is now going on, beginning in November 2004, as revealed by spatial and terrestrial geodetic techniques. In particular, we adopt almost all the available ENVISAT ASAR data acquired from both ascending and descending orbits during 2002-2006, to generate mean deformation velocity maps and time series with spatial resolution of about 100 m. The maps are computed following the Small BAseline Subset (SBAS) approach (Berardino et al., 2002), that implements an appropriate combination of differential interferograms generated from SAR data pairs (60 SAR images for this work). In addition to satellite observations, we show data from the high precision levelling network of the INGV-Osservatorio Vesuviano, consisting in about 320 benchmarks. Levelling measurements are regularly carried out on both the whole network and along the coast line; in case of a bradyseismic crisis, the temporal sampling is strongly increased. Both DInSAR and levelling data evidence the maximum value of the vertical displacement near the city of Pozzuoli. We model the observed deformation by means of 3D pressurized point-source and extended source, performing inversions to constrain their shape and location. The resulting sources are also compared with that inverted for the 1982-84 unrest.UnpublishedWienope

Valutazione Del Benessere Psico-Fisico Nell'aderenza Terapeutica Nelle Donne Con Malattia Renale Policistica Autosomica Dominante: Uno Studio Osservazionale

Evaluation Of The Psychophysical Well-Being In The Compliance Of Women With Autosomal Dominant Policystic Kidney Disease: An Observational Study BACKGROUND: Autosomal dominant polycystic kidney disease is the most common inherited renal disease and affects less than 1 every 400-1,000 people. There are many effective treatments, including blood pressure management, physical activity, low sodium diet and hydration. Therapeutic education is part of a patient's care and treatment. This approach is an essential strategy in order to face the current healthcare scenario, in which the number of people affected by chronic diseases is progressively increasing. OBJECTIVES: This article aims to analyze the effect of therapeutic education in patients with ADPKD, the level of adherence to pharmacological therapy and their compliance to dietetic and lifestyle recommendations as part of a nursing-led education. METHODS: This is a prospective, longitudinal, observational pilot study. The following measurements were used: Kidney Disease Quality of life - Short Form, Hospital Anxiety and Depression Scale, Body Uneasiness Test. At the T0 visit, a nurse selected patients and carried out a personalized educational intervention with the aims of adhering to drug therapies, monitoring blood pressure and dietary behavior (physical activity and water intake). At the T1 visit, patients performed psychological tests. At the T2 visit, the following evaluations were performed: a psychological interview together with the delivery and evaluation of the tests performed, an interview with the nurse to evaluate the adherence to the prescriptions, and a control of parameters such as physical activity, diet, water intake, drug therapy, and blood pressure. RESULTS: Therapeutic education can have a positive impact on patients' health by improving adherence to the pharmacological therapy, diet and lifestyle. CONCLUSIONS: Therapeutic education improve the patient's knowledge, treatments and correct behaviors as well as promotes an independent management of the disease. Through an educational intervention, the patient acquires the ability and the awareness to modify the wrong behaviors and to guarantee a balance between his needs and the pathology, thus improving the quality of life

Recent deformation at Campi Flegrei caldera (Italy) detected by DinSar and leveling techniques

The Campi Flegrei caldera, a volcanic and densely populated area located to the west of Napoli (Italy), was characterized by rapid ground deformation during 1970-72 and 1982-84, for a total amount of 3.5 m in the city of Pozzuoli. Since 1985 a slow deflation was active, with episodic microcrises of uplifts. A new and consistent uplift event is now going on, beginning in November 2004, as revealed by spatial and terrestrial geodetic techniques. In particular, we adopt almost all the available ENVISAT ASAR data acquired from both ascending and descending orbits during 2002-2006, to generate mean deformation velocity maps and time series with spatial resolution of about 100 m. The maps are computed following the Small BAseline Subset (SBAS) approach (Berardino et al., 2002), that implements an appropriate combination of differential interferograms generated from SAR data pairs (60 SAR images for this work). In addition to satellite observations, we show data from the high precision levelling network of the INGV-Osservatorio Vesuviano, consisting in about 320 benchmarks. Levelling measurements are regularly carried out on both the whole network and along the coast line; in case of a bradyseismic crisis, the temporal sampling is strongly increased. Both DInSAR and levelling data evidence the maximum value of the vertical displacement near the city of Pozzuoli. We model the observed deformation by means of 3D pressurized point-source and extended source, performing inversions to constrain their shape and location. The resulting sources are also compared with that inverted for the 1982-84 unrest

MONITORING THE CAMPI FLEGREI CALDERA BY EXPLOITING SAR AND GEODETICAL DATA: RECENT RESULTS AND FUTURE APPLICATIONS

Geodetical monitoring of the Campi Flegrei caldera (Naples, Italy), has been historically carried out by ground networks giving an information related only to a certain number of measuring points; this limitation can be greatly relieved by exploiting the space-borne DInSAR which allows to extract the geodetic information on wide areas, with a good time coverage in comparison with the mean repetition time of the campaign measurements. In this work we will show recent results on Campi Flegrei, obtained by using all the ENVISAT ASAR available data from both ascending and descending orbits. The processed data revealed that the uplift phase of Campi Flegrei, which became very clear in summer 2005 with an average velocity of about 2.8 mm/year, has definitely reduced the uplift velocity since spring 2007. This conclusion is consistent with independent deformation measurements carried out by the Vesuvius Observatory (INGV-OV). Differences, in terms of limits and potentialities of DInSAR with respect to classical geodetic techniques and vice-versa and the way they can be compared/integrated, is still a very interesting matter of debate suggesting, as an optimal solution for monitoring purposes in active volcanic areas, the integration of all the available techniques.UnpublishedFrascati1.10. TTC - Telerilevamentoope

A QUANTITATIVE ASSESSMENT OF DInSAR TIME SERIES ACCURACY IN VOLCANIC AREAS: FROM THE FIRST TO SECOND GENERATION SAR SENSORS

We perform a quantitative assessment of the accuracy of Differential SAR Interferometry (DInSAR) time series in volcanic areas, retrieved through “first” and “second generation” SAR data. In particular, we analyze the impact that the wavelengths and looking geometries may have in the DInSAR measurement retrieval depending on the radar system. To this aim, we focus on the DInSAR algorithm referred to as Small BAseline Subset (SBAS) to generate mean deformation velocity maps and corresponding time series starting from sequences of SAR images. Moreover, we consider collections of SAR data acquired by the ERS-1/2 and ENVISAT (C-band), and COSMO-SkyMed (Xband) sensors over the volcanic area of the Campi Flegrei caldera, Southern Italy. We invert these SAR data sequences through the SBAS-DInSAR technique, thus obtaining C- and X- band deformation time series that we compare to continuous GPS measurements, the latter assumed as reference. The achieved results provide, in addition to a clear picture of the surface deformation phenomena already occurred and occurring in the selected case study, relevant indications for the analysis of the SBAS-DInSAR time series accuracies in volcanic areas passing from the first to second generation SAR sensors.PublishedMünich1IT. Reti di monitoraggio e Osservazionirestricte

A Genome-Wide Screening and SNPs-to-Genes Approach to Identify Novel Genetic Risk Factors Associated with Frontotemporal Dementia

Frontotemporal dementia (FTD) is the second most prevalent form of early onset dementia after Alzheimer’s disease (AD). We performed a case-control association study in an Italian FTD cohort (n = 530) followed by the novel SNPs-to-genes approach and functional annotation analysis. We identified two novel potential loci for FTD. Suggestive SNPs reached p-values ~10-7 and OR > 2.5 (2p16.3) and 1.5 (17q25.3). Suggestive alleles at 17q25.3 identified a disease-associated haplotype causing decreased expression of -cis genes such as RFNG and AATK involved in neuronal genesis and differentiation, and axon outgrowth, respectively. We replicated this locus through the SNPs-to-genes approach. Our functional annotation analysis indicated significant enrichment for functions of the brain (neuronal genesis, differentiation and maturation), the synapse (neurotransmission and synapse plasticity), and elements of the immune system, the latter supporting our recent international FTD-GWAS. This is the largest genome-wide study in Italian FTD to date. Although our results are not conclusive, we set the basis for future replication studies and identification of susceptible molecular mechanisms involved in FTD pathogenesis

MONITORING THE CAMPI FLEGREI CALDERA BY EXPLOITING SAR AND GEODETICAL DATA: RECENT RESULTS AND FUTURE APPLICATIONS

Geodetical monitoring of the Campi Flegrei caldera (Naples, Italy), has been historically carried out by ground networks giving an information related only to a certain number of measuring points; this limitation can be greatly relieved by exploiting the space-borne DInSAR which allows to extract the geodetic information on wide areas, with a good time coverage in comparison with the mean repetition time of the campaign measurements. In this work we will show recent results on Campi Flegrei, obtained by using all the ENVISAT ASAR available data from both ascending and descending orbits. The processed data revealed that the uplift phase of Campi Flegrei, which became very clear in summer 2005 with an average velocity of about 2.8 mm/year, has definitely reduced the uplift velocity since spring 2007. This conclusion is consistent with independent deformation measurements carried out by the Vesuvius Observatory (INGV-OV). Differences, in terms of limits and potentialities of DInSAR with respect to classical geodetic techniques and vice-versa and the way they can be compared/integrated, is still a very interesting matter of debate suggesting, as an optimal solution for monitoring purposes in active volcanic areas, the integration of all the available techniques