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Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasin … blood spots (DBS) from all newborns during a 17-month period were determined by multiplexed tandem mass spectrometry (MS/MS) using the NeoLSD® assay system. Enzymatic activity cutoff values were determined from 3500 anonymous newborn DBS. In the screening study, samples were retested if the value was below cutoff and a second spot was requested, with referral for …

Heterogeneity of paclitaxel distribution in different tumor models assessed by MALDI mass spectrometry imaging.

The penetration of anticancer drugs in solid tumors is important to ensure the therapeutic effect, so methods are needed to understand drug distribution in different parts of the tumor. Mass spectrometry imaging (MSI) has great potential in this field to visualize drug distribution in organs and tumor tissues with good spatial resolution and superior specificity. We present an accurate and reproducible imaging method to investigate the variation of drug distribution in different parts of solid tumors. The method was applied to study the distribution of paclitaxel in three ovarian cancer models…

Simultaneous determination of plasma total homocysteine and methionine by liquid chromatography-tandem mass spectrometry.

The sulfur-containing amino acid homocysteine is a cardiac risk factor and a biomarker for several inborn errors of metabolism in methionine synthesis. A simple LC-MS/MS method was developed and validated for determination of homocysteine and methionine in human plasma. Rapid separation was achieved using a reverse phase liquid chromatography. Mass spectrometry identification was performed in positive electrospray ionization mode for homocysteine and methionine. Accuracy, precision, linearity, recovery and sample stability were evaluated in the method validation. The test is applied in diagnos…

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.

BACKGROUND: There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an optimal clinical outcome when started early in life. OBJECTIVE: To evaluate the performance of a multiplex-tandem mass spectrometry (MS/MS) enzymatic activity assay of 6 lysosomal enzymes in a NBS laboratory for the identification of newborns at risk for developing Pompe, Mucopolysaccharidosis-I (MPS-I), Fabry, Gaucher, Niemann Pick-A/B, and Krabbe diseases. METHODS AND RESULTS: Enzyme activities (acid α-glucosidase (GAA),…

Postmortem interval estimation: a novel approach utilizing gas chromatography/mass spectrometry-based biochemical profiling.

While the molecular mechanisms underlying postmortem change have been exhaustively investigated, the establishment of an objective and relia … ter extraction and isolation, low molecular weight metabolites were measured via gas chromatography/mass spectrometry (GC/MS) and examined via semi-quantification studies. Then, PMI prediction models were generated for each of the 175 and 163 metabolites identified in muscle and serum, respectively, using a non-linear least squares curve fitting program. A PMI esti …

Identification of altered protein abundances in cholesteatoma matrix via mass spectrometry-based proteomic analysis.

BACKGROUND: Cholesteatoma are cyst-like structures lined with a matrix of differentiated squamous epithelium overlying connective tissue. Al … e tissues were subjected to multiplex peptide labeling followed by liquid chromatography and tandem mass spectrometry analysis. Relative protein abundances were compared and evaluated for ontologic function and putative involvement in cholesteatoma. RESULTS: Our methodology detected 10 764 peptides constituting 1662 unique proteins at 95 % confidence or greater. T …

Neuropeptidomics Mass Spectrometry Reveals Signaling Networks Generated by Distinct Protease Pathways in Human Systems.

Neuropeptides regulate intercellular signaling as neurotransmitters of the central and peripheral nervous systems, and as peptide hormones in the endocrine system. Diverse neuropeptides of distinct primary sequences of various lengths, often with post-translational modifications, coordinate and integrate regulation of physiological functions. Mass spectrometry-based analysis of the diverse neuropeptide structures in neuropeptidomics research is necessary to define the full complement of neuropeptide signaling molecules. Human neuropeptidomics has notable importance in defining normal and dysfu…

Molecular identification of Mucorales in human tissues: contribution of PCR electrospray-ionization mass spectrometry.

Molecular methods are crucial for mucormycosis diagnosis because cultures are frequently negative, even if microscopy suggests the presence of hyphae in tissues. We assessed PCR/electrospray-ionization mass spectrometry (PCR/ESI-MS) for Mucorales identification in 19 unfixed tissue samples from 13 patients with proven or probable mucormycosis and compared the results with culture, quantitative real-time PCR, 16S-23S rRNA gene internal transcribed spacer region (ITS PCR) and 18S PCR sequencing. Concordance with culture identification to both genus and species levels was higher for PCR/ESI-MS th…

Serum Albumin Domain Structures in Human Blood Serum by Mass Spectrometry and Computational Biology.

Chemical cross-linking combined with mass spectrometry has proven useful for studying protein-protein interactions and protein structure, however the low density of cross-link data has so far precluded its use in determining structures de novo. Cross-linking density has been typically limited by the chemical selectivity of the standard cross-linking reagents that are commonly used for protein cross-linking. We have implemented the use of a heterobifunctional cross-linking reagent, sulfosuccinimidyl 4,4'-azipentanoate (sulfo-SDA), combining a traditional sulfo-N-hydroxysuccinimide (sulfo-NHS) e…

Характеристика гистонных послетрансляционных модификаций во время вирусной инфекции с использованием протеомики на основе масс-спектрометрии.

Вирусы обязывают внутриклеточные паразиты, которые неизбежно полагаются на угон сотовых ресурсов для производства вирусного потомства. Успех вирусной инфекции требует манипуляции хост-хроматином, с тем чтобы активировать гены, полезные для производства вирусных белков, а также для подавления антивирусной реакции. Манипулирование хост-хроматином на глобальном уровне, вероятно, зависит от модуляции пост-трансляционных модификаций (ПТМ) на гистонные белки. Масс-спектрометрия (MS) является мощным инструментом для количественной оценки и идентификации новых ПТМ, выходящих за пределы ограничений, пр

Совпадение в аннотации оригинала
Viruses are obligate intracellular parasites that necessarily rely on hijacking cellular resources to produce viral progeny. The success of … vel is likely reliant on modulation of post-translational modifications (PTMs) on histone proteins. Mass spectrometry (MS) is a powerful tool to quantify and identify novel histone PTMs, beyond the limitations of site-specific antibodies. Here, we employ MS to investigate global changes in histone PTM relative abundance in human cells during infection with adenovir …

Rapid Bacterial Identification, Resistance, Virulence and Type Profiling using Selected Reaction Monitoring Mass Spectrometry.

Mass spectrometry (MS) in Selected Reaction Monitoring (SRM) mode is proposed for in-depth characterisation of microorganisms in a multiplexed analysis. Within 60-80 minutes, the SRM method performs microbial identification (I), antibiotic-resistance detection (R), virulence assessment (V) and it provides epidemiological typing information (T). This SRM application is illustrated by the analysis of the human pathogen Staphylococcus aureus, demonstrating its promise for rapid characterisation of bacteria from positive blood cultures of sepsis patients.

Novel biomarkers of androgen deficiency from seminal plasma profiling using high-resolution mass spectrometry.

CONTEXT: The seminal plasma is made of secretions from the testis, the epididymis, and the male accessory glands, which are dependent on the … interaction network, which directly involves the androgen receptor. CONCLUSION: A high resolution mass spectrometry-based proteomic approach was first used to describe the alterations of seminal seminal proteome in secundary male hypogonadism. These proteins represent putative physiological in vivo targets for androgen deficiency.

Mass Spectrometry-Based Identification of Muscle-Associated and Muscle-Derived Proteomic Biomarkers of Dystrophinopathies.

The optimization of large-scale screening procedures of pathological specimens by genomic, proteomic and metabolic methods has drastically increased the bioanalytical capability for swiftly identifying novel biomarkers of inherited disorders, such as neuromuscular diseases. X-linked muscular dystrophy represents the most frequently inherited muscle disease and is characterized by primary abnormalities in the membrane cytoskeletal protein dystrophin. Mass spectrometry-based proteomics has been widely employed for the systematic analysis of dystrophin-deficient muscle tissues, using patient samp…

Mass spectrometry based proteomic analysis of salivary glands of urban malaria vector Anopheles stephensi.

Salivary gland proteins of Anopheles mosquitoes offer attractive targets to understand interactions with sporozoites, blood feeding behavior … proteomic approach combining one-dimensional electrophoresis (1DE), ion trap liquid chromatography mass spectrometry (LC/MS/MS), and computational bioinformatic analysis was adopted to provide the first direct insight into identification and functional characterization of known salivary proteins and novel salivary proteins of An. stephensi. Computational studies b …

Improved MALDI-TOF microbial mass spectrometry imaging by application of a dispersed solid matrix.

The key step in high quality microbial matrix-assisted laser desorption/ionization mass spectrometry imaging (microbial MALDI MSI) is the fabrication of a homogeneous matrix coating showing a fine-grained morphology. This application note addresses a novel method to apply solid MALDI matrices onto microbial cultures grown on thin agar media. A suspension of a mixture of 2,5-DHB and α-CHCA is sprayed onto the agar sample surface to form highly homogeneous matrix coatings. As a result, the signal intensities of metabolites secreted by the fungus Aspergillus fumigatus were found to be clearly enh…

Analysis of antithyroid drugs in surface water by using liquid chromatography-tandem mass spectrometry.

This paper describes development and validation of a new method for the simultaneous determination of six antithyroid drugs (ATDs) in surface waters by using liquid chromatography-triple quadrupole mass spectrometry (LC-MS/MS). Target compounds include two ATD classes: thiouracil derivatives (thiouracil (TU), methyl-thiouracil (MTU), propyl-thiouracil (PTU), phenyl-thiouracil (PhTU)) and imidazole derivatives (tapazole (TAP), and mercaptobenzimidazole (MBI)). Sensitivity and selectivity of the LC-multiple reaction monitoring (MRM) analysis allowed applying a simple pre-concentration procedure …

Gas chromatography-mass spectrometry characterisation of the anti-Listeria components of Garcinia kola seeds.

Adsorption chromatography was used to separate the bioactive constituents of the crude n-hexane extract of Garcinia kola seeds. The silica g … 25 mg/mL. The most active fractions, BEA2 and BEA3, were subjected to gas chromatography coupled to mass spectrometry (GC-MS) to identify their composition. Fraction BEA2 constituted of 18 compounds mostly sterols and the BEA3 fraction contained 27 compounds with the most abundant compounds being fatty acids derivatives. The BEA2 fraction's interactions with antibi …

Chromatographic behavior of selenoproteins in rat serum detected by inductively coupled plasma mass spectrometry.

Two major selenoproteins are present in mammalian serum: extracellular glutathione peroxidase (eGPx) and selenoprotein P (Sel P). The chroma … re identical. The elution profiles of Se in rat serum obtained by inductively coupled plasma tandem mass spectrometry (ICP-MS-MS) and ICP-MS were compared. The tandem quadrupoles and the O₂ reaction/collision gas completely removed severe interferences with the Se speciation originating from the plasma source and the biological sample matrix. ICP-MS-MS under the O₂ …

Investigation of neuroleptics and other aromatic compounds by laser-based ion mobility mass spectrometry.

Laser-based ion mobility (IM) spectrometry was used for the detection of neuroleptics and PAH. A gas chromatograph was connected to the IM spectrometer in order to investigate compounds with low vapour pressure. The substances were ionized by resonant two-photon ionization at the wavelengths λ = 213 and 266 nm and pulse energies between 50 and 300 μJ. Ion mobilities, linear ranges, limits of detection and response factors are reported. Limits of detection for the substances are in the range of 1-50 fmol. Additionally, the mechanism of laser ionization at atmospheric pressure was investigated.

Simultaneous quantification of Pacific ciguatoxins in fish blood using liquid chromatography-tandem mass spectrometry.

Ciguatera fish poisoning (CFP) is a food intoxication caused by exposure to ciguatoxins (CTXs) in coral reef fish. Rapid analytical methods … ed coral reef fish using sonication, solid-phase extraction (SPE), and liquid chromatography tandem mass spectrometry (LC-MS/MS) was developed. The optimized method gave acceptable recoveries of P-CTXs (74-103 %) in fish blood. Matrix effects (6-26 %) in blood extracts were found to be significantly reduced compared with those in muscle extracts (suppressed by 34-7 …