38 research outputs found
Rotor Syndrome Presenting as Dubin-Johnson Syndrome
A 42-year-old man with no relevant past medical history presented with intermittent mild icterus and no signs of chronic liver disease. Laboratory tests were notable for hyperbilirubinemia (total 7.97 mg/dL, direct 5.37 mg/dL), bilirubinuria, no signs of hemolysis, normal liver tests and lipids profile. Abdominal ultrasound was unremarkable. A panel of chronic liver diseases was negative except for increased serum (147.4 μg/dL) and urinary (179 μg/24 h) copper, with normal ceruloplasmin. No other Leipzig criteria for Wilson’s disease were found, including a negative test for ATP7B gene mutations (by exome sequencing). Total urinary coproporphyrin was normal with predominance of isomer I (86% of total urinary coproporphyrin output).
Clinical and laboratorial profile was compatible with Dubin-Johnson syndrome; however, exome sequencing and search for deletions in the ABBC2 gene (encoding MRP2) only found a heterozygous potentially pathogenic variant (c.1483A>G – p.Lys495Glu). Additional extended molecular analysis of genes implicated in bilirubin metabolism found a homozygous deletion of a region encompassing exons 4–16 of SLCO1B3 gene (encoding OATP1B3) and all SLCO1B1 exons (encoding OATP1B1), thereby establishing Rotor syndrome diagnosis. Rotor and DubinJohnson syndromes are rare autosomal recessive liver diseases characterized by chronic conjugated hyperbilirubinemia, caused by the absence of the hepatic function OATP1B1/B3 (leading to impaired hepatic bilirubin reuptake and storage) and MRP2 transporters (leading to impaired hepatic bilirubin excretion), respectively. We report a case of compound hereditary hyperbilirubinemia with a misleading presentation with special focus on its diagnosis, particularly the advantage of extensive unbiased genetic testing by dedicated laboratories. With this case, we aim to highlight the necessity of establishing a diagnosis, reassuring the patient, and avoiding unnecessary invasive and costly diagnostic procedures.info:eu-repo/semantics/publishedVersio
Apolipoprotein AV: Gene expression, physiological role in lipid metabolism and clinical relevance
The apolipoprotein APOA5 gene, a member of the gene cluster on chromosome 11q23 that includes APOA1, APOC3 and APOA4, has gained considerable interest as it encodes ApoAV, a key determinant of circulating levels of potentially atherogenic triglyceride-rich lipoproteins (TRL). Indeed, strong associations between genetic variants of the APOA5 gene sequence and elevated triglyceride (TG) levels have been established. This apolipoprotein may potentiate lipolysis of TRL through facilitation of lipoprotein interaction with lipoprotein lipase. In addition, ApoAV may enhance clearance of remnant lipoproteins by mediating their interaction with the LDL receptor-related protein (LRP)1. The implication of ApoAV in intravascular TRL metabolism is further supported by studies that have demonstrated upregulation of APOA5 gene expression by nuclear receptors (PPAR alpha, FXR and HNF4 alpha) and hormones (thyroxine) involved in hypotriglyceridemic pathways. APOA4 expression may equally be modulated by nutritional status and, more specifically, by stimulation of lipogenesis through transcriptional regulation mediated by insulin and SREBP-1c. However, despite the fact that studies in mice have clearly revealed that plasma levels of ApoAV are inversely correlated with plasma TG levels, the relationship between ApoAV and metabolism of TRL remains controversial in man. Indeed, positive correlations between ApoAV and TG levels have recently been observed in patients with hypertriglyceridemia and Type 2 diabetes. The question as to whether ApoAV is a key determinant of TG levels in humans therefore remains conjectural
Hydrogen sulphide removal in waste water treatment plant by compact oxidative scrubbing in Aquilair PlusTM process
International audienceRecently, the development of a high voidage contactor, named Aquilair Plusâ„¢, has demonstrated high efficiency for chemical scrubbing of hydrogen sulphide. Liquid and gas phases flow at co-current and high velocity, leading to a great dispersion of the liquid and then to an enhancement of the mass transfer rate by comparison with classical packed towers. This study focused on the results which obtained at semi-industrial scale with the Aquilair PlusTM process on a waste water treatment plant located in France. The scrubbing liquid consisted of a sodium hypochlorite alkaline solution. At once, pressure drop, H2S removal and reagents consumption were followed. The influence of the superficial gas velocity, liquid-to-gas mass ratio (L/G), pH, hypochlorite concentration of the scrubbing liquid and H2S inlet concentration was characterised. H2S removal percentages higher than 90% could be easily achieved with a moderate pressure drop (< 40 mbar). Both hydrodynamic and chemical conditions proved to influence performances. Reagents consumptions slightly higher than the predicted ones were measured
Erratum: Elevated CYP2C19 expression is associated with depressive symptoms and hippocampal homeostasis impairment (Molecular psychiatry (2016))
This corrects the article DOI: 10.1038/mp.2016.204
Physiopathologie moléculaire des retards mentaux syndromiques et non spécifiques liés à des mutations du gène MECP2
PARIS5-BU Méd.Cochin (751142101) / SudocSudocFranceF
Les chirurgies parodontales de débridement (historique, indications et évolution)
LYON1-BU Santé Odontologie (693882213) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF
Global distribution of cloud top phase from POLDER/ADEOS I
International audienceThe eight months of data acquired by the POLDER instrument have now been processed. This dataset provides daily information on the global distribution of cloud top phase. We present here the results of a statistical analysis of ice and liquid phase occurrence frequencies at the global scale. Temporal variation of these frequencies above land and ocean are analyzed. These results are compared with ISCCP data and the consistency of the POLDER phase product is demonstrated
Cloud thermodynamical phase classification from the POLDER spaceborne instrument
International audienceCloud phase recognition is important for cloud studies. Ice crystals correspond to physical process and properties that differ from those of liquid water drops. The angular polarization signature is a good mean to discriminate between spherical and nonspherical particles (liquid and ice phase, respectively). POLDER (Polarization and Directionality of Earth Reflectances) has been launched on the Japanese ADEOS platform in August 1996. Because of its multidirectional, multispectral, and multipolarization capabilities this new radiometer gives useful information on clouds and their influence on radiation in the shortwave range. The POLDER bidirectional observation capability provides the polarization signatures within a large range of scattering angles in three spectral bands centered on 0.443, 0.670, and 0.865 μm with a spatial resolution of 6.2 km×6.2 km. These original features allow to obtain some information both on cloud thermodynamic phase and on cloud microphysics (size/shape). According to POLDER airborne observations, liquid cloud droplets exhibit very specific polarization features of a rainbow for scattering angles near 140°. Conversely, theoretical studies of scattering by various crystalline particles and also airborne measurements show that the rainbow characteristics disappear as soon as the particles depart from the spherical shape. In the paper the POLDER algorithm for cloud phase classification is presented, as well as the physical principle of this algorithm. Results derived from the POLDER spaceborne version are also presented and compared with lidar ground-based observations and satellite cloud classification. This cloud phase classification method is shown to be reliable. The major limitation appears when thin cirrus clouds overlap the liquid cloud layer. In this case, if the cirrus optical thickness is smaller than 2, the liquid phase may be retrieved. Otherwise, the ice phase is correctly detected as long as cloud detection works
Ability of Bacillus cereus Group Strains To Cause Food Poisoning Varies According to Phylogenetic Affiliation (Groups I to VII) Rather than Species Affiliationâ–¿
Cytotoxic activity levels of culture filtrates and toxin distributions varied according to the phylogenetic group (I to VII) within the Bacillus cereus group, suggesting that these groups are of different clinical significance and are more suitable than species affiliations for determining food poisoning risk. A first-line, simple online tool (https://www.tools.symprevius.org/Bcereus/english.php) to assign strains to the different phylogenetic groups is presented
First results of the "Earth Radiation Budget and Clouds" operational algorithm
International audienceThe POLDER instrument is devoted to global observations of the solar radiation reflected by the Earth-atmosphere system. Algorithms of the "Earth Radiation Budget and Clouds" processing line implemented at the French Space Center are applied to ADEOS-POLDER data. First results on derived cloud properties are presented from POLDER level 2 data of 10 November 1996 and level 3 products of June 1997. A good correlation is observed between the POLDER cloud detection algorithm and the Dynamical Clustering Method applied to METEOSAT data. The multidirectional capability of POLDER appears useful to check schemes of cloud optical thickness retrieval. As expected, a water droplet model is suitable for liquid water clouds and inadequate for ice clouds. That indirectly validates the algorithm of cloud phase recognition. An apparent pressure is derived from O2-absorption measurements and a Rayleigh cloud pressure from polarization observations. For overcast conditions, the apparent pressure is larger (by more than 100 hPa) than the Rayleigh pressure chiefly due to the photon penetration effect. For partly cloudy conditions, it can be larger or weaker depending on the surface reflectivity. Preliminary comparisons between POLDER and ISCCP monthly mean products outline some differences resulting in part from the original characteristics of POLDE