"Double trouble” or digenic disorder in Complex I deficiency

Complex I (CI) deficiency is a defect of OXPHOS caused by mutations in the mitochondrial or nuclear genomes. To date disease-causing mutations have been reported in all mitochondrial-encoded subunits and 22 nuclear genes. In about 50% of the patients no mutations are found, suggesting that undiscovered factors are an important cause of disease. In this study we report a consanguineous family from Southern Portugal with three affected children presenting with CI deficiency and 3-methylglutaconic aciduria type IV

LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family

Free PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5050266/Rhabdomyolysis (RM) is characterized by acute and often severe skeletal muscle damage resulting in myoglobinuria and, in severe cases, acute renal failure. In adults is typically due to trauma, intoxication or infection, whereas in children is frequently associated with inherited muscle disorders. LPIN1 mutations were identified as a cause of severe recurrent RM, which usually begin in childhood, and infections are the most frequent trigger.info:eu-repo/semantics/publishedVersio

Qualidade de sementes de soja BRS Tracajá, colhidas em Roraima em função do tamanho no armazenamento.

Made available in DSpace on 2011-04-09T18:55:27Z (GMT). No. of bitstreams: 1 qualidadedesemente.pdf: 142464 bytes, checksum: 276481920a789099fa1e42cee8d7d5d3 (MD5) Previous issue date: 2011-03-23201

Disentangling the phase sequence and correlated critical properties in Bi0.7La0.3FeO3 by structural studies

The authors would like to acknowledge Fundação para a Ciência e Tecnologia (FCT) through projects NORTE/01/0145/FEDER/028538, CERN/FIS-PAR/0005/2017, CERN/FIS-TEC/0003/2019, PTDC/FIS-MAC/29454/2017, and when appropriate cofinanced by ERDF under PT2020 Partnership Agreement: CQVR, projects UID/QUI/00616/2013 and UIDB/QUI/00616/2020; IFIMUP: Norte-070124-FEDER-000070; NECL: NORTE-01-0145-FEDER-022096, UID/NAN/50024/2019, CFisUC: UIDB/04564/2020 and UIDP/04564/2020; CICECO-Aveiro Institute of Materials: UIDB/50011/2020 and UIDP/50011/2020. M.M.G. and B.M. acknowledge the grants from the project PTDC/NAN-MAT/28538/2017.This work addresses the study of the high-temperature phase sequence of Bi0.7La0.3FeO3 by undertaking temperature-dependent high-resolution neutron powder diffraction (NPD) and Raman spectroscopy measurements. A determination of lattice parameters, phase fractions, and modulation wave vector was performed by Pawley refinement of the NPD data. The analysis revealed that Bi0.7La0.3FeO3 exhibits an incommensurate modulated orthorhombic Pn21a(00γ)000 structure at room temperature, with a weak ferromagnetic behavior, likely arising from a canted antiferromagnetic ordering. Above T1=543K, the low-temperature modulated Pn21a(00γ)000 evolves monotonically into a fractionally growing Pnma structure up to TN=663K. At 663 K, the low-temperature canted antiferromagnetic phase is suppressed concurrently with the switching of the former into a nonmodulated Pn21a structure that continues to coexist with the Pnma one, until the latter is expected to reach the 100% fraction of the sample volume at high temperatures above 733 K. The Pn21a space group is obtained from the Pnma one through the Γ4- polar distortion. Neutron diffraction and Raman spectroscopy results provide evidence for the emergence of noteworthy linear spin-phonon coupling. In this regard, magnetostructural coupling is observed below TN, revealed by the relation between the weak ferromagnetism of the canted iron spins and the FeO6 octahedra symmetric stretching mode. The correlation between magnetization and structural results from NPD provides definite evidence for the magnetic origin of the structural modulation. The analysis of the temperature-dependent magnetization and the magnetic peak intensity as well yields a critical exponent (β) value of 0.38. The lower limit of the phase coexistence temperature T1=543K, marking the emergence of the Pnma phase, is also associated with the temperature whereupon the modulation magnitude starts to decrease.Publisher PDFPeer reviewe

Evaluation of Readmission Ink as a Marker for Dispersal Studies with the Oriental Fruit Fly, Bactrocera dorsalis

In this text we present a new marking dye, readmission ink, Blak-Ray, for the purpose of insect movement studies. The dye was tested in a controlled experiment with Bactrocera dorsalis (Hendel) (Diptera: Tephritidae) in anticipation of a long distance movement study planned for the following year with the same species. 700 individuals of both sexes were marked with the dye and placed in holding containers. Both the percentage of mortality and the ease of dye detection were monitored throughout a five-week period. Results showed minimal fly mortality and exceptional ease of dye detection

Linking sintering stresses to nano modification in the microstructure of BaLa4Ti4O15 by transmission electron microscopy

High quality factor and a temperature stable resonant frequency make BaLa 4 Ti 4 O 15 (BLT) ceramics attractive materials for microwave applications. Aiming to exploit the effects of external stresses on the development of textured and anisotropic microstructures to optimise MW properties, the influence of applied external pressure during sintering of BLT ceramics is analysed. HRTEM and geometric phase analysis (GPA) showed that stresses applied during sintering, trigger the nucleation and growth of faults hypothesised to be due to the errors in the AO 3 layer (basal plane) stacking sequence of the hexagonal perovskite structure. The results reveal a strong correlation between the high concentration of structural defects and the development of anisotropic microstructures, which tune the properties of BLT. Stresses applied during sintering are therefore a promising tool to design material properties

Tailoring ferroelectric properties of 0.37BiScO3-0.63PbTiO3 thin films using a multifunctional LaNiO3 interlayer

Functional oxide thin films integrated into CMOS technology often exhibit degraded properties with respect to bulk materials because of complex interfacial phenomena. In this contribution, we demonstrate that a sol-gel LaNiO3 (LNO) interlayer deposited onto the surface of a Pt/TiO2/SiO2/Si substrate prior to growth of sol-gel BiScO3-PbTiO3 (BSPT) films acts: i) to seed nucleation of perovskite structured; ii) to template growth to give controlled orientation and enhanced crystallinity and iii) as a sink for oxygen vacancies (VO). The LNO interlayer therefore not only improves the ferroelectric, piezoelectric and dielectric properties but also reduces leakage current and prevents degradation of the remanent polarization during fatigue tests. We propose that the use of a LNO interfacial layer may offer a generic solution to interfacial degradation in functional oxide films