In this work, we present Alfnoor, a dedicated tool optimized for population studies of exoplanet atmospheres. Alfnoor combines the latest version of the retrieval algorithm, TauREx 3, with the ...instrument noise simulator ArielRad and enables the simultaneous retrieval analysis of a large sample of exo-atmospheres. We applied this tool to the Ariel list of planetary candidates and focus on hydrogen dominated, cloudy atmospheres observed in transit with the Tier-2 mode (medium Ariel resolution). As a first experiment, we randomized the abundances-ranging from 10−7 to 10−2-of the trace gases, which include H2O, CH4, CO, CO2, and NH3. This exercise allowed us to estimate the detection limits for Ariel Tier-2 and Tier-3 modes when clouds are present. In a second experiment, we imposed an arbitrary trend between a chemical species and the effective temperature of the planet. A last experiment was run requiring molecular abundances being dictated by equilibrium chemistry at a certain temperature. Our results demonstrate the ability of Ariel Tier-2 and Tier-3 surveys to reveal trends between the chemistry and associated planetary parameters. Future work will focus on eclipse data, on atmospheres heavier than hydrogen, and will be applied also to other observatories.
Abstract Background Fatty acid oxidation defects are rare autosomal recessive disorders with variable clinical manifestations and outcome. Early detection by systematic neonatal screening may improve ...their prognosis. Long-term outcome studies of these disorders in the Middle East and North Africa region are limited. The purpose of this study is to report the diagnostic challenges and outcome of fatty acid oxidation defects in a major tertiary care center in Lebanon, a resource-constrained country in the Middle East. Methods A retrospective review of charts of all fatty acid oxidation defects sequential patients diagnosed and followed at our center was conducted. Collected data included: parental consanguinity, age at diagnosis, clinical presentation, biochemical profile, confirmatory diagnosis, treatment and outcome. A genotype–phenotype correlation was also performed, when available. Results Seven types of fatty acid oxidation defects were identified in a total of 34 patients from 21 families. Most families (79%) were consanguineous (first-degree cousins). The majority were diagnosed when clinically symptomatic (78%), at various ages between 10 days and 19 years (average: 2 years). Follow-up duration spanned between 2 months and 15 years (average: 5 years). The remainder of the patients were detected while still asymptomatic by systematic neonatal screening (9%) or due to positive family history (9%). The most common defect was carnitine transporter deficiency (50%) with an exclusive cardiac presentation related to a founder variant c.981C > T, (p.Arg254*) in the SLC22A5 gene. Medium chain acyl-CoA dehydrogenase deficiency was found in 13% only, which could be explained by the absence of systematic neonatal screening. Rare gene variants were detected in very long chain and multiple acyl-CoA dehydrogenase deficiency. The worse prognosis was observed in very long chain acyl-CoA dehydrogenase deficiency. The overall survival at last follow-up reached 75% with a complete reversal of symptoms with treatment in most patients (63%), despite their late diagnosis. Conclusions Our experience highlights the diagnostic challenges and outcome of fatty acid oxidation defects in a resource-constrained country with high consanguinity rates. Physicians’ awareness and systematic neonatal screening are key for diagnosis. Larger genotype–phenotype studies are still needed to understand the natural history of these rare diseases and possibly improve their outcome.
We present the first major data release of the largest single key-project in area carried out in open time with the Herschel Space Observatory. The Herschel Astrophysical Terahertz Large Area Survey ...(H-ATLAS) is a survey of 600 deg super( 2) in five photometric bands -- 100, 160, 250, 350 and 500 mu m -- with the Photoconductor Array Camera and Spectrometer and Spectral and Photometric Imaging Receiver (SPIRE) cameras. In this paper and the companion Paper II, we present the survey of three fields on the celestial equator, covering a total area of 161.6 deg super( 2) and previously observed in the Galaxy and Mass Assembly (GAMA) spectroscopic survey. This paper describes the Herschel images and catalogues of the sources detected on the SPIRE 250 mu m images. The 1 sigma noise for source detection, including both confusion and instrumental noise, is 7.4, 9.4 and 10.2 mJy at 250, 350 and 500 mu m. Our catalogue includes 120 230 sources in total, with 113 995, 46 209 and 11 011 sources detected at >4 sigma at 250, 350 and 500 mu m. The catalogue contains detections at >3 sigma at 100 and 160 mu m for 4650 and 5685 sources, and the typical noise at these wavelengths is 44 and 49 mJy. We include estimates of the completeness of the survey and of the effects of flux bias and also describe a novel method for determining the true source counts. The H-ATLAS source counts are very similar to the source counts from the deeper HerMES survey at 250 and 350 mu m, with a small difference at 500 mu m. Appendix A provides a quick start in using the released data sets, including instructions and cautions on how to use them.
Mitochondrial DNA depletion syndrome type 3 is an emerging disorder linked to variants in the deoxyguanosine kinase gene, which encodes for mitochondrial maintenance. This autosomal recessive ...disorder is frequent in the Middle East and North Africa. Diagnosis is often delayed due to the non-specificity of clinical presentation with cerebro-hepatic deterioration. The only therapeutic option is liver transplantation, although the value of this remains debatable.
We describe the clinical, biochemical, and molecular profiles of Lebanese patients with this rare disorder. We also present a review of all cases from the Middle East and North Africa.
All Lebanese patients share a unique mutation, unreported in other populations. Almost half of patients worldwide originate from the Middle East and North Africa, with cases reported from only 7 of the 21 countries in this region. Clinical presentation is heterogeneous, with early-onset neurological and hepatic signs. Liver failure and lactic acidosis are constants. Several variants can be identified in each population; a unique c.235C>T p. (Gln79*) pathogenic variant is found in Lebanese patients. Outcome is poor, with death before 1 year of age.
The pathogenic nonsense variant c.235C>T p. (Gln79*) in the deoxyguanosine kinase gene may be considered a founder mutation in Lebanon. Further genotypic delineation of this devastating disorder in populations with high consanguinity rates is needed.
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome is an extremely rare disorder of urea cycle, with few patients reported worldwide. Despite hyperammonemia control, the long-term outcome ...remains poor with progressive neurological deterioration. We report the clinical, biochemical, and molecular features of two Lebanese siblings diagnosed with this disorder and followed for 8 and 15 years, respectively. Variable clinical manifestations and neurological outcome were observed. The patient with earlier onset of symptoms had a severe neurological deterioration while the other developed a milder form of the disease at an older age. Diagnosis was challenging in the absence of the complete biochemical triad and the non-specific clinical presentations. Whole exome sequencing revealed a homozygous variant, p.Phe188del, in the SLC25A15 gene, a French- Canadian founder mutation previously unreported in Arab patients. Hyperammonemia was controlled in both patients but hyperonithinemia persisted. Frequent hyperalaninemia spikes and lactic acidosis occured concomitantly with the onset of seizures in one of the siblings. Variable neurological deterioration and outcome were observed within the same family. This is the first report from the Arab population of the long-term outcome of this devastating neurometabolic disorder.
Metformin is the most commonly prescribed oral antidiabetic medication. Direct/indirect activation of Adenosine Monophosphate-activated protein kinase (AMPK) and non-AMPK pathways, amongst others, ...are deemed to explain the molecular mechanisms of action of metformin. Metformin is an established insulin receptor sensitising antihyperglycemic agent, is highly affordable, and has superior safety and efficacy profiles. Emerging experimental and clinical evidence suggests that metformin has pleiotropic non-glycemic effects. Metformin appears to have weight stabilising, renoprotective, neuroprotective, cardio-vascular protective, and antineoplastic effects and mitigates polycystic ovarian syndrome. Anti-inflammatory and antioxidant effects of metformin seem to qualify it as an adjunct therapy in treating infectious diseases such as tuberculosis, viral hepatitis, and the current novel Covid-19 infections. So far, metformin is the only prescription medicine relevant to the emerging field of senotherapeutics. Non-glycemic effects of metformin favourable to its repurposing in therapeutic use are hereby discussed.
Exploiting the Herschel Astrophysical Terahertz Large Area Survey Science Demonstration Phase survey data, we have determined the luminosity functions (LFs) at rest-frame wavelengths of 100 and 250 ...Delta *mm and at several redshifts z 1, for bright submillimeter galaxies with star formation rates (SFRs) 100 M yr--1. We find that the evolution of the comoving LF is strong up to z 2.5, and slows down at higher redshifts. From the LFs and the information on halo masses inferred from clustering analysis, we derived an average relation between SFR and halo mass (and its scatter). We also infer that the timescale of the main episode of dust-enshrouded star formation in massive halos (M H 3 X 1012 M ) amounts to ~7 X 108 yr. Given the SFRs, which are in the range of 102-103 M yr--1, this timescale implies final stellar masses of the order of 1011-1012 M . The corresponding stellar mass function matches the observed mass function of passively evolving galaxies at z 1. The comparison of the statistics for submillimeter and UV-selected galaxies suggests that the dust-free, UV bright phase is 102 times shorter than the submillimeter bright phase, implying that the dust must form soon after the onset of star formation. Using a single reference spectral energy distribution (SED; the one of the z 2.3 galaxy SMM J2135-0102), our simple physical model is able to reproduce not only the LFs at different redshifts >1 but also the counts at wavelengths ranging from 250 Delta *mm to 1 mm. Owing to the steepness of the counts and their relatively broad frequency range, this result suggests that the dispersion of submillimeter SEDs of z > 1 galaxies around the reference one is rather small.
Context. Millimetre-wave continuum astronomy is today an indispensable tool for both general astrophysics studies (e.g. star formation, nearby galaxies) and cosmology (e.g. cosmic microwave ...background and high-redshift galaxies). General purpose, large-field-of-view instruments are needed to map the sky at intermediate angular scales not accessible by the high-resolution interferometers (e.g. ALMA in Chile, NOEMA in the French Alps) and by the coarse angular resolution space-borne or ground-based surveys (e.g. Planck, ACT, SPT). These instruments have to be installed at the focal plane of the largest single-dish telescopes, which are placed at high altitude on selected dry observing sites. In this context, we have constructed and deployed a three-thousand-pixel dual-band (150 GHz and 260 GHz, respectively 2 mm and 1.15 mm wavelengths) camera to image an instantaneous circular field-of-view of 6.5 arcmin in diameter, and configurable to map the linear polarisation at 260 GHz. Aims. First, we are providing a detailed description of this instrument, named NIKA2 (New IRAM KID Arrays 2), in particular focussing on the cryogenics, optics, focal plane arrays based on Kinetic Inductance Detectors, and the readout electronics. The focal planes and part of the optics are cooled down to the nominal 150 mK operating temperature by means of an adhoc dilution refrigerator. Secondly, we are presenting the performance measured on the sky during the commissioning runs that took place between October 2015 and April 2017 at the 30-m IRAM telescope at Pico Veleta, near Granada (Spain). Methods. We have targeted a number of astronomical sources. Starting from beam-maps on primary and secondary calibrators we have then gone to extended sources and faint objects. Both internal (electronic) and on-the-sky calibrations are applied. The general methods are described in the present paper. Results. NIKA2 has been successfully deployed and commissioned, performing in-line with expectations. In particular, NIKA2 exhibits full width at half maximum angular resolutions of around 11 and 17.5 arcsec at respectively 260 and 150 GHz. The noise equivalent flux densities are, at these two respective frequencies, 33±2 and 8±1 mJy s1/2. A first successful science verification run was achieved in April 2017. The instrument is currently offered to the astronomy community and will remain available for at least the following ten years.
Polydopamine decorated in-situ with Localized Surface Plasmon Resonance (LSPR)-active gold nanoparticles (AuNPs) may extend the applicability of nanoplasmonic materials to original and innovative ...applications in several fields. Here we report the modification of disposable UV–Vis polystyrene cuvettes with AuNPs@PDA for refractive index LSPR-based measurements. An original layer-by-layer deposition method of PDA followed by AuNPs growth is here developed, showing linear correlation between PDA thickness and optical properties. In particular, the modulation from wavelength sensitivity toward absorbance sensitivity is obtained, allowing measurements at fixed wavelength (578 nm). As applicative example of the photonic cuvettes, the measurement of fermentable sugars in beer wort is here reported. The analytical performance of our approach has been directly compared to portable refractometer of reference, displaying excellent results in terms of the precise estimation of sugars in beer wort (expressed in degrees Brix), reproducibility and sensitivity. The approach may be extended to other materials of interest in LSPR based optical sensors, e.g. optical fibers.
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•Polydopamine (PDA) is able to spontaneously reduce Au(III) to gold nanoparticles at their surface.•PDA films decorated with gold nanoparticles can be exploited in LSPR measurements.•A layer-by-layer growth of PDA evidences the correlation between PDA thickness and LSPR behavior.•At certain thickness, absorbance intensity change instead of wavelength shift is successfully obtained.•Measurements of sugars in beer wort are obtained and compared with a portable refractrometer.
Polluted dredged sediments are classified as waste and cannot be re-used in civil and environmental engineering nor in agriculture, posing serious logistical, economic and environmental problems for ...their management. We tested co-composting of sediments (S) slightly polluted by PAHs with urban green waste (GW), as a sustainable technique to both degrade the organic pollutants and lend to sediments suitable properties to be reused as technosol. Four treatments were tested: sediments only (S), GW only (GW), 1:1 w:w S:GW (SGW1:1), and 3:1 w:w S:GW (SGW3:1) for a co-composting period of one year. The co-composting materials underwent to an initial short and moderate thermophilic phase. However, at the end of the co-composting process, SGW3:1 and SGW1:1 achieved suitable physical and chemical properties as plant substrate in terms of organic C, N and humic substances contents, electrical conductivity and bulk density. In the first six months of treatment, the PAHs concentration in SGW3:1 and SGW1:1 was reduced by 26% and 57%, respectively, reaching values below under 1mgg−1, whereas such a reduction in S alone was observed only after nine months. We concluded that co-composting with green waste can be a suitable approach for reclamation of dredged sediments opening opportunities for their use as technosol or as plant growing substrate.
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•Co-composting with green waste (GW) was tested to reclaim dredged sediments (S).•Co-composting improved the S chemical and physical properties.•Co-composting of S and GW led to degradation of PAHs.•Co-composting end-product had suitable properties to be used as technosol.
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