We make use of own geological mapping, interpretations of seismic reflection profiles and deep geophysical data to build a lithospheric-scale cross-section across the European Western Southern Alps ...(Varese area) and to model a progressive restoration from the end of Mesozoic rifting to present-day. Early phases of Alpine orogeny were characterized by Europe-directed thrusting, whereas post-Oligocene shortening led to basement-involving crustal accretion accompanied by backfolding, and consistent with the kinematics of the adjoining Ivrea Zone. Wedging was favored by a significant component of reactivation of the inherited Adriatic rifted margin. Our results also suggest that, during the collisional and post-collisional tectonics, lithosphere dynamics drove diachronically the onset of tectonic phases (i.e., wedging and slab retreat), from east to west, across the Western Southern Alps.
Spectrum of combined respiratory chain defects Mayr, Johannes A.; Haack, Tobias B.; Freisinger, Peter ...
Journal of inherited metabolic disease,
July 2015, Volume:
38, Issue:
4
Journal Article
Peer reviewed
Open access
Inherited disorders of mitochondrial energy metabolism form a large and heterogeneous group of metabolic diseases. More than 250 gene defects have been reported to date and this number continues to ...grow. Mitochondrial diseases can be grouped into (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis. Deficiency of more than one respiratory chain enzyme is a common finding. Combined defects are found in 49 % of the known disease-causing genes of mitochondrial energy metabolism and in 57 % of patients with OXPHOS defects identified in our diagnostic centre. Combined defects of complexes I, III, IV and V are typically due to deficiency of mitochondrial DNA replication, RNA metabolism or translation. Defects in cofactors can result in combined defects of various combinations, and defects of mitochondrial homeostasis can result in a generalised decrease of all OXPHOS enzymes. Noteworthy, identification of combined defects can be complicated by different degrees of severity of each affected enzyme. Furthermore, even defects of single respiratory chain enzymes can result in combined defects due to aberrant formation of respiratory chain supercomplexes. Combined OXPHOS defects have a great variety of clinical manifestations in terms of onset, course severity and tissue involvement. They can present as classical encephalomyopathy but also with hepatopathy, nephropathy, haematologic findings and Perrault syndrome in a subset of disorders.
An “end-off” compartmental ligand has been synthesized by an abnormal Mannich reaction, namely, 2-bis(2-methoxyethyl)aminomethyl-4-isopropylphenol yielding three centrosymmetric binuclear ...μ-phenoxozinc(II) complexes having the molecular formula Zn2(L)2X2 (Zn-1, Zn-2, and Zn-3), where X = Cl–, Br –, and I –, respectively. X-ray crystallographic analysis shows that the ZnO3NX chromophores in each molecule form a slightly distorted trigonal-bipyramidal geometry (τ = 0.55–0.68) with an intermetallic distance of 3.068, 3.101, and 3.083 Å (1–3, respectively). The spectrophotometrical investigation on their phosphatase activity established that all three of them possess significant hydrolytic efficiency. Michaelis–Menten-derived kinetic parameters indicate that the competitiveness of the rate of P–O bond fission employing the phosphomonoester (4-nitrophenyl)phosphate in 97.5% N,N-dimethylformamide is 3 > 1 > 2 and the k cat value lies in the range 9.47–11.62 s–1 at 298 K. Theoretical calculations involving three major active catalyst forms, such as the dimer-cis form (D-Cis), the dimer-trans form (D-Trans), and the monoform (M-1 and M-2), systematically interpret the reaction mechanism wherein the dimer-cis form with the binuclear-bridged hydroxide ion acting as the nucleophile and one water molecule playing a role in stabilizing the leaving group competes as the most favored pathway.
The demonstration of diamond devices has substantiated the superior capability of diamond in high power electronics that relied on the preparation of p-type and n-type diamond through boron and ...phosphorus doping, respectively, and the growth of high purity intrinsic diamond. We present an approach for electrical contacts to homoepitaxial, phosphorus doped, n-type, diamond that utilizes an interfacial layer of highly nitrogen doped, nanostructured carbon grown by plasma enhanced CVD (PECVD). This contact strategy was utilized in a pin diamond diode for electron source applications. The pin-nano-carbon structure was prepared on HPHT type IIb (111) oriented substrates with intrinsic, n-type, and nano-carbon layer grown in dedicated PECVD systems. The nanostructured nitrogen doped carbon layer was synthesized under argon addition to promote re-nucleation. Diodes from this pin-nano-carbon structure were prepared by lithography and mesa-etched devices contacted by Ti/Pt/Au metallurgy. Final processing in a hydrogen plasma established negative electron affinity properties for electron emission. Electrical characterization of the diodes commenced in vacuum after annealing at ~600 °C for 15 min and observation of exciton light emission indicated bipolar transport. At a forward bias of 14 V a current of 0.1A was measured and at 17 V its increase to 0.5A corresponded to a current density >1500 A/cm2. Compared to conventional pin diodes, the introduction of the nano-carbon layer enhanced the diode and electron emission current by more than an order of magnitude. This was attributed to the reduced contact resistivity of 5.5 × 10−3 Ω cm2 at room temperature. Light emission and diode operation at temperatures >750 °C indicated superior stability of the electrical contact. The n-type layer was characterized by SIMS indicating a phosphorus incorporation of ~2 × 1019cm-3 and for the nano-carbon layer a nitrogen incorporation of ~5 × 1020cm−3. Addressing contact limitations to n-type diamond through the growth of moderately phosphorus doped epilayers followed by highly nitrogen doped nano-carbon layers could provide a preferred approach for electronic devices that could also be extended to (100) surfaces.
Display omitted
•Diamond p-i-n diode for electron emission•Interstitial nanostructured carbon (nanoC) layer with N ~5 × 1020cm−3•Mitigation of moderate phosphorus doping in the n-layer of p-i-n-nanoC diode•Reduced electrical contact resistivity of 5.5 × 10−3 Ω cm2•Improved diode performance (forward current/electron emission)
Although bacteriophages are central entities in bacterial ecology and population dynamics, there is currently no literature on the genomes of bacteriophages isolated from groundwater. Using a ...collection of bacterial isolates from an aquifer as hosts, this study isolated, sequenced and characterised two bacteriophages native to the groundwater reservoir. Host phylogenetic analyses revealed that the phages targeted B. mycoides and a novel Pseudomonas species. These results suggest that both bacteriophages represent new genera, highlighting that groundwater reservoirs, and probably other subsurface environments as well, are underexplored biotopes in terms of the presence and ecology of bacteriophages.
The human mitochondrial genome encodes RNA components of its own translational machinery to produce the 13 mitochondrial-encoded subunits of the respiratory chain. Nuclear-encoded gene products are ...essential for all processes within the organelle, including RNA processing. Transcription of the mitochondrial genome generates large polycistronic transcripts punctuated by the 22 mitochondrial (mt) tRNAs that are conventionally cleaved by the RNase P-complex and the RNase Z activity of ELAC2 at 5′ and 3′ ends, respectively. We report the identification of mutations in ELAC2 in five individuals with infantile hypertrophic cardiomyopathy and complex I deficiency. We observed accumulated mtRNA precursors in affected individuals muscle and fibroblasts. Although mature mt-tRNA, mt-mRNA, and mt-rRNA levels were not decreased in fibroblasts, the processing defect was associated with impaired mitochondrial translation. Complementation experiments in mutant cell lines restored RNA processing and a yeast model provided additional evidence for the disease-causal role of defective ELAC2, thereby linking mtRNA processing to human disease.
System Vicarious Calibration (SVC) ensures a relative radiometric calibration to satellite ocean color sensors that minimizes uncertainties in the water-leaving radiance Lw derived from the top of ...atmosphere radiance LT. This is achieved through the application of gain-factors, g-factors, to pre-launch absolute radiometric calibration coefficients of the satellite sensor corrected for temporal changes in radiometric sensitivity. The g-factors are determined by the ratio of simulated to measured spectral LT values where the former are computed using: i. highly accurate in situ Lw reference measurements; and ii. the same atmospheric models and algorithms applied for the atmospheric correction of satellite data. By analyzing basic relations between relative uncertainties of Lw and LT, and g-factors consistently determined for the same satellite mission using different in situ data sources, this work suggests that the creation of ocean color Climate Data Records (CDRs) should ideally rely on: i. one main long-term in situ calibration system (site and radiometry) established and sustained with the objective to maximize accuracy and precision over time of g-factors and thus minimize possible biases among satellite data products from different missions; and additionally ii. unique (i.e., standardized) atmospheric model and algorithms for atmospheric correction to maximize cross-mission consistency of data products at locations different from that supporting SVC. Finally, accounting for results from the study and elements already provided in literature, requirements and recommendations for SVC sites and field radiometric measurements are streamlined.
•System Vicarious Calibration (SVC) for satellite ocean color (OC) sensors.•Uncertainties in SVC correction factors supporting OC Climate Data Records (CDRs).•Recommendations for sites and in situ SVC measurements supporting OC CDRs.
Oxidative stress and micronutrient deficiencies have been related to lower birth weight (BW), small for gestational age (SGA) offspring and preterm delivery.
The relation between neonatal outcome ...(BW, head circumference, SGA, preterm delivery) with markers of oxidative stress and micronutrients in maternal and cord blood was to be examined. Oxidative stress markers (protein carbonyls (PrCarb), 3-nitrotyrosine (3NT), malondialdehyde (MDA)), total protein concentration and lipid-soluble micronutrients (carotenoids, retinol, tocopherols) were measured in 200 newborns (11% preterms, 13% SGA) and 151 mothers. Associations between target parameters in cord plasma and maternal serum with BW, head circumference and risk of being SGA or preterm were explored.
Maternal protein concentration, PrCarb, MDA and all lipid-soluble micronutrients were significantly higher compared with newborns, except for 3NT, which was significantly elevated in newborns. Newborn parameters correlated positively with those of mothers. Preterms had lower proteins and retinol but higher PrCarb than terms. Maternal PrCarb and retinol were inversely associated with BW and head circumference. Mothers with PrCarb, MDA and retinol in the highest quintile had a 3.3-fold (0.9; 12.1), 2.1-fold (0.7; 6.4) and 3.3-fold (1.2; 9.4) risk, respectively, for delivering an SGA newborn, whereas the lowest quintile of retinol in cord blood was associated with an increased risk for preterm delivery.
Oxidative stress (elevated PrCarb) was associated with lower BW/head circumference and SGA. Inadequate hemodilution may explain the inverse relation of maternal retinol with BW and head circumference, and the association between highest maternal retinol and risk for SGA.
Scope
Heterocyclic aromatic amines (HAAs) are process‐induced food contaminants with high mutagenic and/or carcinogenic potential. Although the human gut microbiota is known to affect the metabolism ...of dietary constituents, its impact on HAA metabolism and toxicity has been little studied. Here, the glycerol‐dependent metabolism of seven foodborne HAAs (AαC, Trp‐P‐1, harman, norharman, PhIP, MeIQx, and MeIQ) by the human fecal microbiota is investigated.
Methods and results
As analyzed by HPLC–DAD/FLD, the extent of conversion is strongly dependent on glycerol supplementation and HAA structure. AαC (60–100%) and the 2‐aminoimidazoazarenes (up to 58%) are especially prone to microbial conversion. Based on high‐resolution MS and/or NMR spectroscopy data, 70 fecal metabolites are identified in total, mainly formed by chemical reactions with one or two molecules of microbially derived reuterin. Moreover, it has been demonstrated that the human fecal microbiota can further transform reuterin adducts by reduction and/or hydroxylation reactions. Upon isolation, some reuterin‐induced HAA metabolites appear to be partially unstable, complicating structural identification.
Conclusion
The formation of microbial metabolites needs to be incorporated into risk assessment considerations for HAAs in human health. In this study, several HAA metabolites, mainly reuterin‐dependent, are identified in vitro, providing the basis for future human studies investigating microbial HAA metabolism.
Human gut microbiota alters the toxicity of dietary constituents. Here, the capacity of human fecal microbiota to convert foodborne heterocyclic aromatic amines (HAAs) is investigated. Microbial conversion is highly dependent on glycerol availability, because HAAs are metabolized by chemical reactions with glycerol‐derived reuterin. Generally, this is accompanied by blocking the exocyclic amino group, thus probably reducing parental mutagenicity. Therefore, microbial metabolites need to be taken into account for a holistic risk assessment of HAAs in human health.
A novel series of mononuclear five-coordinated pseudohalido-Cu(II) complexes displaying distorted square bipyramidal: Cu(L
)(NCS)
(
), Cu(L
)(NCS)
(
) and Cu(L
)(NCS)ClO
(
) as well as distorted ...trigonal bipyramidal: Cu(isp
tren)(N
)ClO
(
), Cu(isp
tren)(dca)ClO
(
) and Cu(tedmpza)(dca)ClO
·0.67H
O (
) geometries had been synthesized and structurally characterized using X-ray single crystal crystallography, elemental microanalysis, IR and UV-vis spectroscopy, and molar conductivity measurements. Different
-donor amine skeletons including tridentate: L
= (2-pyridyl)-2-ethyl)-(3,4-dimethoxy)-2-methylpyridylmethylamine and L
= (2-pyridyl)-2-ethyl)-(3,5-dimethyl-4-methoxy)-2-methyl-pyridylmethylamine, and tetradentate: L
= bis(2-ethyl-di(3,5-dimethyl-1
-pyrazol-1-yl)-2-(3,4-dimethoxy-pyridylmethyl)amine, tedmpza = tris(2-(3,5-dimethyl-1
-pyrazol-1-yl)ethylamine and isp
tren = tris(2-isopropylamino)ethyl)amine ligands were employed. Molecular structural parameters such as nature of coligand, its chelate ring size and steric environment incorporated into its skeleton, which lead to adopting one of the two limiting geometries in these complexes and other reported compounds are analyzed and correlated to their assigned geometries in solutions. Similar analysis were extended to other five-coordinated halido-Cu(II) complexes.
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