High frequency of mitochondrial DNA rearrangements in the peripheral blood of adults with intellectual disability.

Background: Mitochondrial DNA (mtDNA) rearrangements are recognised factors in mitochondrial disorders and ageing, but their involvement in neurodevelopmental disorders, particularly intellectual disability (ID) and autism spectrum disorder (ASD), remains poorly understood. Previous studies have reported mitochondrial dysfunction in individuals with both ID and ASD. The aim of this study was to investigate the prevalence of large-scale mtDNA rearrangements in ID and ID with comorbid ASD (ID-ASD).

High number of mitochondrial DNA alterations in postmortem brain tissue of patients with schizophrenia compared to healthy controls.

Previous studies have shown mitochondrial dysfunction in schizophrenia (SZ) patients, which may be caused by mitochondrial DNA (mtDNA) alterations. However, there are few studies in SZ that have analyzed mtDNA in brain samples by next-generation sequencing (NGS). To address this gap, we used mtDNA-targeted NGS and qPCR to characterize mtDNA alterations in brain samples from patients with SZ (n = 40) and healthy controls (HC) (n = 40).

[Translated article] Treatment strategies in vertebral metastasis. Need for multidisciplinary committees from the perspective of the surgeon. Narration of literature.

Improvements in cancer diagnosis and treatment have improved survival. Secondarily, the number of patients who present a vertebral metastasis and the number with some morbidity in relation to these metastases also increase. Vertebral fracture, root compression or spinal cord injury cause a deterioration of their quality of life.

Treatment strategies in vertebral metastasis. Need for multidisciplinary committees from the perspective of the surgeon. Narration of literatura.

Improvements in cancer diagnosis and treatment have improved survival. Secondarily, the number of patients who present a vertebral metastasis and the number with some morbidity in relation to these metastases also increases. Vertebral fracture, root compression or spinal cord injury cause a deterioration of their quality of life.

Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review.

Background: Mitochondrial DNA (mtDNA) encodes 37 genes necessary for synthesizing 13 essential subunits of the oxidative phosphorylation system. mtDNA alterations are known to cause mitochondrial disease (MitD), a clinically heterogeneous group of disorders that often present with neuropsychiatric symptoms. Understanding the nature and frequency of mtDNA alterations in health and disease could be a cornerstone in disentangling the relationship between biochemical findings and clinical symptoms of brain disorders.

Theoretical (DFT) and experimental (Raman and FTIR) spectroscopic study on communic acids, main components of fossil resins.

The objective of this work is to establish a spectral assignment of several communic acids. The most significant vibrational modes of three stereoisomers of communic acids [trans-, cis-, and iso- (or mirceo-)] are presented. They are showed throughout experimental Raman and IR spectra, and on the basis on calculations with Density Functional Theory (DFT) and the assignment of the spectral bands of different resins found in the literature.

Analysis of Minerals as Electrode Materials for Ca-based Rechargeable Batteries.

Rechargeable lithium-ion batteries dominate the consumer electronics and electric vehicle markets. However, concerns on Li availability have prompted the development of alternative high energy density electrochemical energy storage systems. Rechargeable batteries based on a Ca metal anode can exhibit advantages in terms of energy density, safety and cost.

Gas-phase interactions between lead(II) ions and cytosine: tandem mass spectrometry and infrared multiple-photon dissociation spectroscopy study.

Gas-phase interactions between Pb(2+) ions and cytosine (C) were studied by combining tandem mass spectrometry, infrared multiple photon dissociation spectroscopy, and density functional theory (DFT) calculations. Both singly and doubly charged complexes were generated by electrospray. The [Pb(C)-H](+) complex was extensively studied, and this study shows that two structures, involving the interaction of the metal with the deprotonated canonical keto-amino tautomer of cytosine, are generated in the gas phase; the prominent structure is the bidentate form involving both the N1 and O2 electronegative centers.

Factorial design optimization of experimental variables in preconcentration of carbamates pesticides in water samples using solid phase extraction and liquid chromatography-electrospray-mass spectrometry determination.

An experimental design was applied for the optimization of extraction process of carbamates pesticides from surface water samples. Solid phase extraction (SPE) of carbamates compounds and their determination by liquid chromatography coupled to electrospray mass spectrometry detector were considered. A two level full factorial design 2(k) was used for selecting the variables which affected the extraction procedure.

Gas-phase interactions of organotin compounds with glycine.

Gas-phase interactions of organotins with glycine have been studied by combining mass spectrometry experiments and quantum calculations. Positive-ion electrospray spectra show that the interaction of di- and tri-organotins with glycine results in the formation of [(R)2Sn(Gly)-H](+) and [(R)3Sn(Gly)](+) ions, respectively. Di-organotin complexes appear much more reactive than those involving tri-organotins.

Unimolecular reactivity of the [urea-Sr]2+ complex, a metastable dication in the gas phase: an experimental and theoretical perspective.

The interactions between urea and Sr(2+) in the gas phase have been investigated by combining electrospray ionization/mass spectrometry techniques and density functional and high-level ab initio molecular orbital calculations. Our theoretical survey indicates that [Sr(urea)](2+) adducts are thermodynamically stable with respect to direct Coulomb explosions. However, after isomerization, some of the local minima of the PES are thermodynamically unstable with respect to the formation of NH(4)(+), but kinetically metastable.

Modelling peptide-metal dication interactions: formamide-Ca2+ reactions in the gas phase.

The collision induced dissociation of formamide-Ca(2+) complexes produced in the gas phase through nanoelectrospray ionization yields as main products ions [CaOH](+), [HCNH](+), [Ca(NH(2))](+), HCO(+) and [Ca(NH(3))](2+) and possibly [Ca(H(2)O)](2+) and [C,O,Ca](2+), the latter being rather minor. The mechanisms behind these fragmentation processes have been established by analyzing the topology of the potential energy surface by means of B3LYP calculations carried out with a core-correlated cc-pWCVTZ basis set. The Ca(2+) complexes formed by formamide itself and formimidic acid play a fundamental role.

High-pressure investigation of Li2MnSiO4 and Li2CoSiO4 electrode materials for lithium-ion batteries.

In this work, the high-pressure behavior of Pmn2(1)-Li(2)MnSiO(4) and Pbn2(1)-Li(2)CoSiO(4) is followed by in situ X-ray diffraction at room temperature. Bulk moduli are 81 and 95 GPa for Pmn2(1)-Li(2)MnSiO(4) and Pbn2(1)-Li(2)CoSiO(4), respectively. Regardless of the moderate values of the bulk moduli, there is no evidence of any phase transformation up to a pressure of 15 GPa.

Direct evidence for tautomerization of the uracil moiety within the Pb2+/uridine-5'-monophosphate complex: a combined tandem mass spectrometry and IRMPD study.

The structure of the [Pb(UMP)-H](+) (UMP = uridine-5'-monophosphate) complex was studied in the gas phase by combining electrospray ionization (ESI), tandem mass spectrometry, and mid-infrared multiple photon dissociation (IRMPD) spectroscopy. The results obtained show that Pb(2+) ions interact not only with the deprotonated phosphate group but also with a carbonyl group of the nucleobase moiety by folding of the mononucleotide, resulting in macrochelates that are not likely to be present in solution. Comparison between the IRMPD and DFT-computed spectra suggests that the ESI-generated complex likely corresponds to a mixture of several structures, and establishes the enolic tautomers as the most abundant species for the [Pb(UMP)-H](+) ion, while the very weak IRMPD signal observed at ∼1763 cm(-1) points to a minor population of oxo forms.

APCI/APPI for synthetic polymer analysis.

Modern mass spectrometry of synthetic polymers involves soft ionization techniques. Whereas matrix-assisted laser desorption/ionization (MALDI) and electrospray (ESI) are employed routinely, atmospheric pressure chemical ionization (APCI) and more recently atmospheric pressure photoionization (APPI) are used to a lesser extent. However, these latter ionization methods coupled to liquid-phase separation techniques create new opportunities for the characterization of polymers, especially for low molecular weight compounds or for the polymers that are poorly ionizable by the usual methods.

A new method for the determination of the relative affinity of a ligand against various DNA sequences by electrospray ionization mass spectrometry. Application to a polyamide minor groove binder.

A new method for the determination of the relative affinity of a ligand against various dsDNA sequences is presented by using electrospray ionization time-of-flight mass spectrometry (ESI-QTOF) mass spectrometry. The principle is described here through the complexation of double-stranded DNA by a polyamide ligand including twelve N-methylpyrrole rings. However this method could be applied to other ligands especially when dissociation constants (Kd) are in nanomolar range.

Influence of instrumental parameters on the kinetic energy of ions and plasma temperature for a hexapole collision/reaction-cell-based inductively coupled plasma quadrupole mass spectrometer.

Inductively coupled plasma mass spectrometry (ICP-MS) is widely used in inorganic analytical chemistry for element and/or isotope ratio measurements. The presence of interferences, which is one of the main limitations of this method, has been addressed in recent years with the introduction of collision/reaction cell devices on ICP-MS apparatus. The study of ion-molecule reactions in the gas phase then became of great importance for the development of new analytical strategies.

Affinity capture using chimeric membrane proteins bound to magnetic beads for rapid ligand screening by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.

The rapid and specific detection of therapeutically important ligands in complex mixtures, that may bind to membrane proteins, remains challenging for many research laboratories and pharmaceutical industries. Through its use in the development of screening assays, mass spectrometry (MS) is currently experiencing a period of tremendous expansion. In the study presented here, we took advantage of the remarkable stability properties of a bacterial membrane protein, the KcsA K+ channel, produced in E.

Gas-phase interactions between lead(II) ions and thiouracil nucleobases: a combined experimental and theoretical study.

The gas-phase interactions between lead(II) ions and 2-thiouracil, 4-thiouracil, and 2,4-dithiouracil have been investigated by combining mass spectrometry and theoretical calculations. The most abundant complexes observed, namely [Pb(thiouracil) - H](+), have been studied by MS/MS experiments. Cationization by the metal allows an unambiguous characterization of the sulfur position, several fragment ions being specific of each isomer.

Coordination properties of lysine interacting with Co(I) and Co(II). A theoretical and mass spectrometry study.

This article analyzes the interaction between cobalt cations and lysine both theoretically and experimentally. The influence of d orbital occupation in Co(+/2+) cations and the side chain of lysine on the relative stability of the different coordination modes was studied by means of theoretical methods. The structure and vibrational frequencies were determined using the B3LYP and BHLYP methods.

Ni+ reactions with aminoacrylonitrile, a species of potential astrochemical relevance.

The reaction of aminoacrylonitrile, a species of astrochemical interest, with Ni(+)((2)D(5/2)) was investigated by means of mass spectrometry techniques and density functional theory calculations. The dominant fragmentations in the MIKE spectrum correspond to the loss of [C2,N,H3], HCN, and NH3, the loss of H2 being very minor. The structure and bonding of the different aminoacrylonitrile-Ni(+) complexes were investigated at the B3LYP/6-311G(d,p) level of theory.

Modeling high pressure reactivity in unsaturated systems: application to dimethylacetylene.

A general model is introduced to study pressure-induced reactivity on unsaturated systems in the condensed state. The model is applied here to dimethylacetylene (DMA) in the solid phase II (C/2m) because it has been proposed that two DMA molecules can react to form tetramethyl-cyclobutadiene (TMCBD). The proposed reaction process has been modeled by studying the structural and electronic changes undergone by two DMA molecules as they approach each other preserving the crystal symmetry of phase II.

Selenourea-Ca2+ reactions in gas phase. Similarities and dissimilarities with urea and thiourea.

The gas-phase reactions between Ca(2+) and selenourea were investigated by means of electrospray/tandem mass spectrometry techniques. The MS/MS spectra of [Ca(selenourea)](2+) complexes show intense peaks at m/z 43, 121, 124, and 146 and assigned to monocations produced in different coulomb explosion processes. The structures and bonding characteristics of the stationary points of the [Ca(selenourea)](2+) potential energy surface (PES) were theoretically studied by DFT calculations carried out at the B3LYP/6-311+G(3df,2p)//B3LYP/6-311+G(d,p) level.

Proteome analysis of differentiating human myoblasts by dialysis-assisted two-dimensional gel electrophoresis (DAGE).

In the present study, modifications in cytosolic expressed proteins during human myoblast differentiation were studied by dialysis-assisted 2-DE (DAGE, [1]). About 1000 spots were analysed on the 5th and 13th day of differentiation with a dynamic range of protein expression exceeding 1000-fold. During myogenic differentiation, the number of nonmatching spots as well as the extent of quantitative differences between matched spots significantly increased.