Life cycle assessment of synthetic natural gas production from different CO2 sources: A cradle⇂to-gate study

Fuel production from hydrogen and carbon dioxide is considered an attractive solution as long‐term storage of electric energy and as temporary storage of carbon dioxide. A large variety of CO2 sources are suitable for Carbon Capture Utilization (CCU), and the process energy intensity depends on the separation technology and, ultimately, on the CO2 concentration in the flue gas. Since the carbon capture process emits more CO2 than the expected demand for CO2 utilization, the most sustainable CO2 sources must be selected. This work aimed at modeling a Power‐to‐Gas (PtG) plant and assessing the most suitable carbon sources from a Life Cycle Assessment (LCA) perspective. The PtG plant was supplied by electricity from a 2030 scenario for Italian electricity generation. The plant impacts were assessed using data from the ecoinvent database version 3.5, for different CO2 sources (e.g., air, cement, iron, and steel plants). A detailed discussion on how to handle multi‐functionality was also carried out. The results showed that capturing CO2 from hydrogen production plants and integrated pulp and paper mills led to the lowest impacts concerning all investigated indicators. The choice of how to handle multi‐functional activities had a crucial impact on the assessment

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

Background: Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression is highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmorphic features, cleft palate, and early osteoarthritis. COL2A1, COL11A1, and COL11A2 mutations account of the majority of autosomal dominant Stickler Syndrome and, in particular, a heterozygous mutation in COL11A1 gene is identified in about 10 to 20% of Stickler Syndrome patients. Methods: Herein, we report a case of an 8-year- old child with Stickler Syndrome, presenting with early-onset of myopia with vitreal abnormalities, facial dysmorphic characteristics, and mild hearing loss later in childhood. To identify the underlying genetic cause, Whole Exome Sequencing was carried out for COL11A1 gene. Results: A novel de novo heterozygous splice site variant (NM_001854: c.1845 + 5G> C) of the COL11A1 gene, which had not been previously reported, was identified by Whole Exome Sequencing. Conclusion: We reported a novel COL11A1 mutation in a child with Stickler Syndrome presenting a phenotype of early-onset of ocular anomalies and mild hearing loss later in childhood. Our findings confirm the variability of the expression of the disease, even in the contest of the same gene-related disorder, thus, contributing to improve the knowledge on clinical and molecular basis of this rare disease

Determinants of vitamin D levels in children and adolescents with Down syndrome.

Background. Poor studies have evaluated 25-hydroxycholecalciferol (25(OH)D) levels in Down syndrome (DS). Objective. To assess in DS subjects serum 25(OH)D value, to identify risk factors for vitamin D deficiency, and to evaluate whether a normal 25(OH)D value can be restored with a 400 I.U. daily supplement of cholecalciferol in respect to controls. Methods. We have longitudinally evaluated 31 DS patients (aged 4.5–18.9 years old) and 99 age- and sex-matched healthy controls. In these subjects, we analysed calcium, phosphate, parathyroid hormone (PTH), 25(OH)D concentrations, and calcium and 25(OH)D dietary intakes, and we quantified outdoor exposure. After 12.3 months (range 8.1–14.7 months) of 25(OH)D supplementation, we reevaluated these subjects. Results. DS subjects showed reduced 25(OH)D levels compared to controls (P<0.0001), in particular DS subjects with obesity (P<0.05) and autoimmune diseases history (P<0.005). PTH levels were significantly higher in DS subjects than controls (P<0.0001). After cholecalciferol supplementation, 25(OH)D levels were significantly ameliorated (P<0.05), even if reduced compared to controls (P<0.0001), in particular in DS subjects with obesity (P<0.05) and autoimmune diseases (P<0.001). Conclusions. Hypovitaminosis D is very frequent in DS subjects, in particular in presence of obesity and autoimmune diseases. In these subjects, there could be a need for higher cholecalciferol supplementation

Quasars as standard candles III. Validation of a new sample for cosmological studies

We present a new catalogue of ~2,400 optically selected quasars with spectroscopic redshifts and X-ray observations from either Chandra or XMM-Newton. The sample can be used to investigate the non-linear relation between the UV and X-ray luminosity of quasars, and to build a Hubble diagram up to redshift z~7.5. We selected sources that are neither reddened by dust in the optical/UV nor obscured by gas in the X-rays, and whose X-ray fluxes are free from flux-limit related biases. After checking for any possible systematics, we confirm, in agreement with our previous works, that (i) the X-ray to UV relation provides distance estimates matching those from supernovae up to z~1.5, and (ii) its slope shows no redshift evolution up to z~5. We provide a full description of the methodology for testing cosmological models, further supporting a trend whereby the Hubble diagram of quasars is well reproduced by the standard flat $\Lambda$CDM model up to z~1.5-2, but strong deviations emerge at higher redshifts. Since we have minimized all non-negligible systematic effects, and proven the stability of the $L_{\rm X}-L_{\rm UV}$ relation at high redshifts, we conclude that an evolution of the expansion rate of the Universe should be considered as a possible explanation for the observed deviation, rather than some systematic (redshift-dependent) effect associated with high-redshift quasars.Comment: 24 pages, 17 figures, accepted for publication in A&

The most luminous blue quasars at 3.0 < z < 3.3. III. LBT spectra and accretion parameters

We present the analysis of the rest frame ultraviolet and optical spectra of 30 bright blue quasars at z ∼ 3, selected to examine the suitability of active galactic nuclei as cosmological probes. In our previous works, based on pointed XMM-Newton observations, we found an unexpectedly high fraction (≈25%) of X-ray weak quasars in the sample. The latter sources also display a flatter UV continuum and a broader and fainter C IV profile in the archival UV data with respect to their X-ray normal counterparts. Here we present new observations with the Large Binocular Telescope in both the zJ (covering the rest frame ≃2300-3100 Å) and the KS (≃4750-5350 Å) bands. We estimated black hole masses (MBH) and Eddington ratios (λEdd) from the available rest frame optical and UV emission lines (Hβ, Mg II), finding that our z∼3 quasars are on average highly accreting (λEdd≃ 1.2 and MBH≃ 109.7 M⊙), with no difference in λEdd or MBH between X-ray weak and X-ray normal quasars. From the zJ spectra, we derived the properties (e.g. flux, equivalent width) of the main emission lines (Mg II, Fe II), finding that X-ray weak quasars display higher Fe II/Mg II ratios with respect to typical quasars. Fe II/Mg II ratios of X-ray normal quasars are instead consistent with other estimates up to z ≃ 6.5, corroborating the idea of already chemically mature broad line regions at early cosmic time. From the KS spectra, we find that all the X-ray weak quasars present generally weaker [O III] emission (EW &lt; 10 Å) than the normal ones. The sample as a whole, however, abides by the known X-ray-[O III] luminosity correlation, hence the different [O III] properties are likely due to an intrinsically weaker [O III] emission in X-ray weak objects, associated to the shape of the spectral energy distribution. We interpret these results in the framework of accretion-disc winds

Quasars as standard candles: III. Validation of a new sample for cosmological studies

We present a new catalogue of 3c2400 optically selected quasars with spectroscopic redshifts and X-ray observations from either Chandra or XMM-Newton. The sample can be used to investigate the non-linear relation between the ultraviolet (UV) and X-ray luminosity of quasars as well as to build a Hubble diagram up to a redshift of z 3c 7.5. We selected sources that are neither reddened by dust in the optical and UV nor obscured by gas in the X-rays, and whose X-ray fluxes are free from flux-limit-related biases. After checking for any possible systematics, we confirm, in agreement with our previous works, that the X-ray to UV relation provides distance estimates matching those from supernovae up to z 3c 1.5, and its slope shows no redshift evolution up to z 3c 5. We provide a full description of the methodology for testing cosmological models, further supporting a trend whereby the Hubble diagram of quasars is well reproduced by the standard flat cold dark matter model up to z 3c 1.5-2, but strong deviations emerge at higher redshifts. Since we have minimised all non-negligible systematic effects and proven the stability of the LX - LUV relation at high redshifts, we conclude that an evolution of the expansion rate of the Universe should be considered as a possible explanation for the observed deviation, rather than some systematic (redshift-dependent) effect associated with high-redshift quasars

Lipids and transaminase elevations in ARV-experienced PLWH switching to a doravirine-based regimen from rilpivirine or other regimens

Background: Doravirine (DOR) is a newly approved antiretroviral belonging to the class of non-nucleoside reverse transcriptase inhibitors (NNRTI), well tolerated and leading to an improved lipid profile in antiretroviral experienced people living with HIV (PLWH). We aimed at evaluating if the lipid-lowering effect is linked to the drug class, using real-life data from the SCOLTA cohort. Methods: We compared the lipid profile modifications in experienced PLWH switching to a DOR-based regimen from rilpivirine or another NNRTI-based regimen or from an integrase strand transferase (INSTI)-based regimen. T0 and T1 were defined as the baseline and 6-month follow-up respectively. Data were collected at baseline and prospectively every six months and changes from baseline were compared using a multivariable linear model. Results: In 107 PLWH, enrolled in the SCOLTA DOR cohort, with undetectable HIV-RNA at baseline, 32.7% switched from RPV-based regimens (DOR1), 29.9% from other NNRTI-including regimens (DOR2) and 37.4% switched from INSTI-including regimens (DOR3). At T1, TC significantly decreased in DOR2 (-15&nbsp;mg/dL) and DOR3 (-23&nbsp;mg/dL), and significantly more in DOR3 than in DOR1 (-6&nbsp;mg/dL) (p = 0.016). HDL-C declined in DOR2 (-2&nbsp;mg/dL) whereas it increased in DOR1 (+ 3&nbsp;mg/dL) (p = 0.042) and remained stable in DOR3. LDL-C significantly decreased from baseline in DOR2 (-12&nbsp;mg/dL) and DOR3 (-22&nbsp;mg/dL) and was different between DOR1 (-8&nbsp;mg/dL) and DOR3 (p = 0.022). TC/HDL ratio showed a significant decline in the DOR3 group (-0.45), although similar to DOR1 (-0.23, p = 0.315) and DOR2 (-0.19, p = 0.254). Triglycerides did not noticeably change. ALT significantly decreased in PLWH with a baseline level &gt; 40 UI/mL. Conclusions: PLWH on doravirine treatment showed different trends in blood lipids according to their previous regimen. In PLWH switching from RPV, minimal modifications were seen, whereas in those switching from other NNRTIs and from INSTI-including regimens, we observed an overall improvement in lipid profile, seemingly independent of the “statin effect” of TDF

Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante

Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C&gt;T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated with 65 genetic syndromes. We demonstrate increasing resolution and specificity ranging from protein complex, gene, sub-gene, protein domain, and even single nucleotide-level Mendelian episignatures. We show the power of multiclass modeling to develop highly accurate and disease-specific diagnostic classifiers. This study significantly expands the number and spectrum of disorders with detectable DNA methylation episignatures, improves the clinical diagnostic capabilities through the resolution of unsolved cases and the reclassification of variants of unknown clinical significance, and provides further insight into the molecular etiology of Mendelian conditions

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated with 65 genetic syndromes. We demonstrate increasing resolution and specificity ranging from protein complex, gene, sub-gene, protein domain, and even single nucleotide-level Mendelian episignatures. We show the power of multiclass modeling to develop highly accurate and disease-specific diagnostic classifiers. This study significantly expands the number and spectrum of disorders with detectable DNA methylation episignatures, improves the clinical diagnostic capabilities through the resolution of unsolved cases and the reclassification of variants of unknown clinical significance, and provides further insight into the molecular etiology of Mendelian conditions