Cathodoluminescence, Raman and scanning electron microscopy with energy dispersion system mapping to unravel the mineralogy and texture of an altered Ca-Al-rich inclusion in Renazzo CR2 carbonaceous chondrite

An altered fluffy type A Ca-Al-rich inclusion in the CR2 Renazzo carbonaceous chondrite was examined by combined Raman, scanning electron microscopy with energy dispersion system (SEM-EDS) and cathodoluminescence (CL) mapping. Blue CL at 450 nm and orange emission at 600 nm were related to anorthite and calcite, respectively. Raman spectra were highly fluorescent, and only the stronger peaks of anorthite, clinopyroxene and calcite were observed. Raman-induced fluorescence emission was measured using the 632-nm Raman laser source, up to 850 nm, and used to chart the mineral phases. A fluorescence structured peak at 690 nm, split in three subpeaks at 678, 689 and 693 nm, was found; it is likely related to the fluorescence emission of Cr3+ from a fassaitic pyroxene in anorthite. Secondary pyroxene in the Wark–Lovering rim does not show the peak at 690 nm; the different fluorescence emission from the secondary rim and the pyroxene patches within anorthite could be a marker to spot the primary pyroxene. From combined imaging, the events in the altered chondrite could be sequenced. Starting from a pristine assemblage of spinel and melilite, with little fassaite, several alteration episodes occurred. Alteration in secondary anorthite, which could be mapped by the blue CL emission at 450 nm, was followed by alkalization, with rims of sodalite and nepheline, and subsequent formation of secondary clinopyroxene, encircling the inclusion. Widespread calcite alteration, present also in the matrix between chondrules, was the last recorded event

Renal hypoplasia without optic coloboma associated with PAX2 gene deletion

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InAs/InP/InSb Nanowires as Low Capacitance n-n Heterojunction Diodes

Nanowire diodes have been realized by employing an axial heterojunction between InAs and InSb semiconductor materials. The broken-gap band alignment (type III) leads to a strong rectification effect when the current-voltage (I-V) characteristic is inspected at room temperature. The additional insertion of a narrow InP barrier reduces the thermionic contribution, which results in a net decrease of leakage current in the reverse bias with a corresponding enhanced rectification in terms of asymmetry in the I-V characteristics. The investigated diodes compare favorably with the ones realized with p-n heterostructured nanowires, making InAs/InP/InSb devices appealing candidates to be used as building blocks for nanowire-based ultrafast electronics and for the realization of photodetectors in the THz spectral range

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients

Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of lower motor neurons. Here we investigated pathological processes occurring in muscle biopsy specimens derived from SBMA patients and, as controls, age-matched healthy subjects and patients suffering from amyotrophic lateral sclerosis (ALS) and neurogenic atrophy. We detected atrophic fibers in the muscle of SBMA, ALS and neurogenic atrophy patients. In addition, SBMA muscle was characterized by the presence of a large number of hypertrophic fibers, with oxidative fibers having a larger size compared with glycolytic fibers. Polyglutamine-expanded AR expression was decreased in whole muscle, yet enriched in the nucleus, and localized to mitochondria. Ultrastructural analysis revealed myofibrillar disorganization and streaming in zones lacking mitochondria and degenerating mitochondria. Using molecular (mtDNA copy number), biochemical (citrate synthase and respiratory chain enzymes) and morphological (dark blue area in nicotinamide adenine dinucleotide-stained muscle cross-sections) analyses, we found a depletion of the mitochondria associated with enhanced mitophagy. Mass spectrometry analysis revealed an increase of phosphatidylethanolamines and phosphatidylserines in mitochondria isolated from SBMA muscles, as well as a 50% depletion of cardiolipin associated with decreased expression of the cardiolipin synthase gene. These observations suggest a causative link between nuclear polyglutamine-expanded AR accumulation, depletion of mitochondrial mass, increased mitophagy and altered mitochondrial membrane composition in SBMA muscle patients. Given the central role of mitochondria in cell bioenergetics, therapeutic approaches toward improving the mitochondrial network are worth considering to support SBMA patients

Further phenotypic heterogeneity of CoQ10 deficiency associated with Steroid Resistant Nephrotic Syndrome and novel COQ2 and COQ6 variants.

open16noWe descripe three patients with SRNS associated with pathogentic changes in two CoQ pathway genes: one novel homozygous COQ2 variant was identified in two cousins with adolescent-onset SRNS and mild neurological symptoms (Family 1); and one novel COQ6 variant was found in a child with early onset SRNS without deafness and neurological involvement (Family 2). (A, B) : families (C) : Sanger sequencing showing COQ2 change: NM_015697.7: c.1169G>C; NP_056512.5; p.Gly390Ala (c.1019G>C; p.Gly340Ala, according to KU877220 GenBank sequence) (D) : Sanger sequencing showing COQ6 change: NM_182476.2:c.782C>T; NP_872282.1:p.Pro261Leu. (E, F): Functional complementation in yeast. Serial dilutions of ΔCOQ2 and ΔCOQ6 yeast transformed with wild-type, the empty vector and the mutant alleles; complex II+III (C.II+C.III) and citrate synthase (CS) activities.embargoed_20180801Gigante, M; Diella, S; Santangelo, L; Trevisson, Eva; Acosta, Mj; Amatruda, M; Finzi, G; Caridi, G; Murer, L; Accetturo, M; Ranieri, E; Ghiggeri, Gm; Giordano, M; Grandaliano, G; Salviati, Leonardo; Gesualdo, L.Gigante, M; Diella, S; Santangelo, L; Trevisson, Eva; Acosta, Mj; Amatruda, M; Finzi, G; Caridi, G; Murer, L; Accetturo, M; Ranieri, E; Ghiggeri, Gm; Giordano, M; Grandaliano, G; Salviati, Leonardo; Gesualdo, L

Transmission Electron Microscopy, High Resolution X-Ray Diffraction and Rutherford Backscattering Study of Strain Release in InGaAs/GaAs Buffer Layers

Strain release and dislocation distribution in InGaAs/GaAs double heterostructures, step-graded and linear-graded buffer layers have been studied. A higher misfit dislocation density at the inner interface between the InGaAs layer and the substrate was found in all the samples. This corresponded to a strain release of the inner ternary layers much larger than predicted by equilibrium theories. The residual parallel strain of the external layers as a function of their thickness was found to follow a curve approximately of slope -0.5, in agreement with previous investigations on single InGaAs layers. This result has been interpreted as evidence that the elastic energy per unit interface area remains constant during the epilayer growth. The presence of numerous single and multiple dislocation loops inside the substrate was attributed to the strain relaxation occurring through dislocation multiplication via Frank-Read sources activated during the growth. A comparison with InGaAs/GaAs step-graded and linear-graded heterostructures is also shown and briefly discussed. Finally, lattice plane tilts between epilayers and substrates have been found due to the imbalance in the linear density of misfit dislocations with opposite component of the Burgers vector, b⊥eff, perpendicular to the interface

Novel near-infrared emission from crystal defects in MoS2 multilayer flakes

The structural defects in two-dimensional transition metal dichalcogenides, including point defects, dislocations and grain boundaries, are scarcely considered regarding their potential to manipulate the electrical and optical properties of this class of materials, notwithstanding the significant advances already made. Indeed, impurities and vacancies may influence the exciton population, create disorder-induced localization, as well as modify the electrical behaviour of the material. Here we report on the experimental evidence, confirmed by ab initio calculations, that sulfur vacancies give rise to a novel near-infrared emission peak around 0.75 eV in exfoliated MoS2 flakes. In addition, we demonstrate an excess of sulfur vacancies at the flake's edges by means of cathodoluminescence mapping, aberration-corrected transmission electron microscopy imaging and electron energy loss analyses. Moreover, we show that ripplocations, extended line defects peculiar to this material, broaden and redshift the MoS2 indirect bandgap emission

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

BACKGROUND: Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent advances in the understanding of the genetic basis of AOS, for the majority of affected subjects, the underlying molecular defect remains unresolved. This study aimed to identify novel genetic determinants of AOS. METHODS AND RESULTS: Whole-exome sequencing was performed for 12 probands, each with a clinical diagnosis of AOS. Analyses led to the identification of novel heterozygous truncating NOTCH1 mutations (c.1649dupA and c.6049_6050delTC) in 2 kindreds in which AOS was segregating as an autosomal dominant trait. Screening a cohort of 52 unrelated AOS subjects, we detected 8 additional unique NOTCH1 mutations, including 3 de novo amino acid substitutions, all within the ligand-binding domain. Congenital heart anomalies were noted in 47% (8/17) of NOTCH1-positive probands and affected family members. In leukocyte-derived RNA from subjects harboring NOTCH1 extracellular domain mutations, we observed significant reduction of NOTCH1 expression, suggesting instability and degradation of mutant mRNA transcripts by the cellular machinery. Transient transfection of mutagenized NOTCH1 missense constructs also revealed significant reduction in gene expression. Mutant NOTCH1 expression was associated with downregulation of the Notch target genes HEY1 and HES1, indicating that NOTCH1-related AOS arises through dysregulation of the Notch signaling pathway. CONCLUSIONS: These findings highlight a key role for NOTCH1 across a range of developmental anomalies that include cardiac defects and implicate NOTCH1 haploinsufficiency as a likely molecular mechanism for this group of disorders