Elementos escasos y mineralizaciones metálicas en neises de la provincia de Pontevedra

[Resumen] Se estudió el contenido total, y en minerales no silicatédos, de Ni, Cu, Co, 2P y Ti en doce muestras representativas de los neises existentes en la provincia de Pontevedra. Se estableció la mineralogía y composición de Ios compuestos metálicos demostrándose la existencia de minerales de Ti en todas las muestras, en la mayoría rutilo con pequeñas cantidades de Fe en solucién sólida En otras apaecren cristales de ilmenita con Mn y Mg en solucién sólida al alguna de ellas. Se ha detectado la aparición de cristales de tumalina en la nuestra de neis glandular. Se han establecido las f ómuIas mineralógicas de todas las mineralizaciones metálicas localizada

Alteración de las rocas gneisicas con riebeckita del área de Vigo

[Resumen] Se estudian los factores del medio físico, procesos de alteración y cambios químicos y mineralógicos producidos en la meteorización de un grupo de rocas gneisicas de composiciónquímica heterogénea en el área de Vigo. El proceso de alteración origina una saprolita masivade textura arenosa a areno-francosa, constituida por minerales heredados (cuarzo, feldespatos, plagioclasas, micas y anfíboles), micas degradadas y minerales neoformados (caolinita, gibbsita , goethita). El proceso de meteorización es una hidrólisis ácida con pérdida de bases y silicio y enriquecimiento relativo en aluminio. Los minerales de neoformación indican un predominio de la "monosialitización" cuando el sistema presenta drenaje ralentizado y de la "alitización")en fases incipientes de la alteración}cuando el sistema no tiene materia orgánica y el drenaje es excesivo[Abstract] It has been studied the physical environmental factors, alteration processes, and chemical and mineralogical changes produced during the gneisic rocks group from Vigo area ~eathering. ln these rocks great heterogenity in the chemical composition has been found. The weathering prevailing process in the area give rise to the formation of a saprolite with sandy to sandy-loamy textures,increasing permeability and it is composed of inherited minerals :quarz, feldspars and/or plagioclases,micas, amphiboles; neoformed materials, gibbsite,caolinite,goethite and degraded micas)the last two occasionally. The weathering process is an acid hydrolysis with desbasification and Al relative enrichment tendencies. With slow drainage systems the neoformed minerals indicate a monosiallitization predominance (formation of silicates 1:1); while 1ack i ng organ i c matter and in good dra i ned zones, the neoformed minerals indicate an incipient allititatio

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including phenotype and penetrance variability, shared signs and symptoms, and problems inherent to biochemical diagnosis. Developing a powerful diagnostic tool could mitigate the protracted diagnostic process for these families, lead to better outcomes for current and proposed therapies, and provide the basis for more appropriate genetic counseling. METHODS: We have designed a targeted resequencing assay for the simultaneous testing of 57 lysosomal genes, using in-solution capture as the enrichment method and two different sequencing platforms. A total of 84 patients with high to moderate-or low suspicion index for LSD were enrolled in different centers in Spain and Portugal, including 18 positive controls. RESULTS: We correctly diagnosed 18 positive blinded controls, provided genetic diagnosis to 25 potential LSD patients, and ended with 18 diagnostic odysseys. CONCLUSION: We report the assessment of a next-generation-sequencing-based approach as an accessory tool in the diagnosis of LSDs, a group of disorders which have overlapping clinical profiles and genetic heterogeneity. We have also identified and quantified the strengths and limitations of next generation sequencing (NGS) technology applied to diagnosis

Effects of different arachidonic acid supplementation on psychomotor development in very preterm infants; A randomized controlled trial

Background & aims: Nutritional supplementation with polyunsaturated fatty acids is important in preterm infants neurodevelopment, but it is not known if the omega-6/omega-3 ratio affects this process. This study was designed to determine the effects of a balanced contribution of arachidonic acid in very preterm newborns fed with formula milk. Methods: This was a randomized trial, in which newborns <1500 g and/or <32 weeks gestational age were assigned to one of two groups, based on the milk formula they would receive during the first year of life. Initially, 60 newborns entered the study, but ultimately, group A was composed of 24 newborns, who were given formula milk with an ω-6/ ω-3 ratio of 2/1, and Group B was composed of 21 newborns, given formula milk with an ω-6/ω-3 ratio of 1/1. The infants were followed up for two years: growth, visual-evoked potentials, brainstem auditory-evoked potentials, and plasma fatty acids were periodically measured, and psychomotor development was assessed using the Brunet Lézine scale at 24 months corrected age. A control group, for comparison of Brunet Lézine score, was made up of 25 newborns from the SEN1500 project, who were fed exclusively with breast milk. Results: At 12 months, arachidonic acid values were significantly higher in group A than in group B (6.95 ± 1.55 % vs. 4.55 ± 0.78 %), as were polyunsaturated fatty acids (41.02 ± 2.09 % vs. 38.08 ± 2.32 %) achieved a higher average. Group A achieved a higher average Brunet Lézine score at 24 months than group B (99.9 ± 9 vs. 90.8 ± 11, p =0.028). The Brunet Lézine results from group A were compared with the control group results, with very similar scores registered between the two groups (99.9 ± 9 vs. 100.5 ± 7). There were no significant differences in growth or evoked potentials between the two formula groups. Conclusions: Very preterm infants who received formula with an ω-6/ω-3 ratio of 2/1 had higher blood levels of essential fatty acids during the first year of life, and better psychomotor development, compared with very preterm newborns who consumed formula with an ω-6/ω-3 of 1/1. Therefore, formula milk with an arachidonic acid quantity double that of docosahexaenoic acid should be considered for feeding very preterm infants

Non-alcoholic fatty liver in hereditary fructose intolerance

Background: Non-alcoholic fatty liver disease (NAFLD) is characterized by fat accumulation affecting &gt;5% of the liver volume that is not explained by alcohol abuse. It is known that fructose gives rise to NAFLD and it has been recently described that the ingestion of fructose in low amounts in aldolase B deficient mice is associated with the development of fatty liver. Therefore, it is reasonable that patients with HFI (Hereditary Fructose Intolerance) present fatty liver at diagnosis, but its prevalence in patients treated and with adequate follow-up is not well documented in the literature. The aim of this study is to analyze the association between HFI and NAFLD in treated patients. Methods: A cross-sectional observational study was conducted. The population comprised 16 genetically diagnosed HFI patients aged from 3 years to 48 and in dietary treatment of fructose, sorbitol and sacarose exclusion at least for two years. Blood samples were obtained for analytical studies and anthropometric measurements of each patient were performed. Results: Patients presented a Body Mass Index (BMI) of 17.9 ± 2.9 kg/m 2 . The HOMA index and Quick index were in normal range for our population. The S-adenosyl-methionine (SAM)/S-adenosyl-L-homocysteine (SAH) ratio was increased in the patients in whom this analysis was performed. By imaging techniques it was observed that 9 of the 16 patients presented fatty liver (7 by hepatic MRI). Of these 9 patients, only 3 presented hepatomegaly. 7 of 9 patients affected by the c.448G &gt; C mutation had fatty infiltration, of which three of them presented in addition hepatomegaly. Conclusions: There is a high prevalence of fatty liver in HFI patients and it is not related to obesity and insulin resistance. The diagnosis of fatty liver in HFI patients and, above all, the identification of new therapeutic approaches, can positively impact the quality of life of these patients

Proteins Inform Survival-Based Differences in Patients with Glioblastoma

Background: Improving the care of patients with glioblastoma (GB) requires accurate and reliable predictors of patient prognosis. Unfortunately, while protein markers are an effective readout of cellular function, proteomics has been underutilized in GB prognostic marker discovery. Methods: For this study, GB patients were prospectively recruited and proteomics discovery using liquid chromatography-mass spectrometry analysis (LC-MS/MS) was performed for 27 patients including 13 short-term survivors (STS) (≤10 months) and 14 long-term survivors (LTS) (≥18 months). Results: Proteomics discovery identified 11 941 peptides in 2495 unique proteins, with 469 proteins exhibiting significant dysregulation when comparing STS to LTS. We verified the differential abundance of 67 out of these 469 proteins in a small previously published independent dataset. Proteins involved in axon guidance were upregulated in STS compared to LTS, while those involved in p53 signaling were upregulated in LTS. We also assessed the correlation between LS MS/MS data with RNAseq data from the same discovery patients and found a low correlation between protein abundance and mRNA expression. Finally, using LC-MS/MS on a set of 18 samples from 6 patients, we quantified the intratumoral heterogeneity of more than 2256 proteins in the multisample dataset. Conclusions: These proteomic datasets and noted protein variations present a beneficial resource for better predicting patient outcome and investigating potential therapeutic targets

Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL

The EARS2 nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role in mitochondrial protein biosynthesis by catalyzing the charging of glutamate to mitochondrial tRNA(Glu). Pathogenic EARS2 variants have been associated with a rare mitochondrial disorder known as leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). The targeted sequencing of 150 nuclear genes encoding respiratory chain complex subunits and proteins implicated in the oxidative phosphorylation (OXPHOS) function was performed. The oxygen consumption rate (OCR), and the extracellular acidification rate (ECAR), were measured. The enzymatic activities of Complexes I-V were analyzed spectrophotometrically. We describe a patient carrying two heterozygous EARS2 variants, c.376C>T (p.Gln126*) and c.670G>A (p.Gly224Ser), with infantile-onset disease and a severe clinical presentation. We demonstrate a clear defect in mitochondrial function in the patient's fibroblasts, suggesting the molecular mechanism underlying the pathogenicity of these EARS2 variants. Experimental validation using patient-derived fibroblasts allowed an accurate characterization of the disease-causing variants, and by comparing our patient's clinical presentation with that of previously reported cases, new clinical and radiological features of LTBL were identified, expanding the clinical spectrum of this disease

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

Background Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients. Newborn screening (NBS) has considerably improved MCADD outcome, but the risk of complication remains in some patients. The aim of this study was to evaluate the relationship between genotype, biochemical parameters and clinical data at diagnosis and during follow-up, in order to optimize monitoring of these patients. Methods We carried out a multicenter study in southwest Europe, of MCADD patients detected by NBS. Evaluated NBS data included free carnitine (C0) and the acylcarnitines C8, C10, C10:1 together with C8/C2 and C8/C10 ratios, clinical presentation parameters and genotype, in 45 patients. Follow-up data included C0 levels, duration of carnitine supplementation and occurrence of metabolic crises. Results C8/C2 ratio and C8 were the most accurate biomarkers of MCADD in NBS. We found a high number of patients homozygous for the prevalent c.985A > G mutation (75%). Moreover, in these patients C8, C8/C10 and C8/C2 were higher than in patients with other genotypes, while median value of C0 was significantly lower (23 μmol/L vs 36 μmol/L). The average follow-up period was 43 months. To keep carnitine levels within the normal range, carnitine supplementation was required in 82% of patients, and for a longer period in patients homozygotes for the c.985A>G mutation than in patients with other genotypes (average 31 vs 18 months). Even with treatment, median C0 levels remained lower in homozygous patients than in those with other genotypes (14 μmol/L vs 22 μmol/L). Two patients died and another three suffered a metabolic crisis, all of whom were homozygous for the c.985 A>G mutation. Conclusions Our data show a direct association between homozygosity for c.985A>G and lower carnitine values at diagnosis, and a higher dose of carnitine supplementation for maintenance within the normal range. This study contributes to a better understanding of the relationship between genotype and phenotype in newborn patients with MCADD detected through screening which could be useful in improving follow-up strategies and clinical outcome

Evidence for the effects of decommissioning man-made structures on marine ecosystems globally: a systematic map

Background: Many marine man-made structures (MMS), such as oil and gas platforms or offshore wind turbines, are nearing their ‘end-of-life’ and require decommissioning. Limited understanding of MMS decommissioning effects currently restricts the consideration of alternative management possibilities, often leaving complete removal as the only option in certain parts of the world. This evidence-base describes the ecosystem effects of marine MMS whilst in place and following cessation of operations, with a view to informing decision-making related to their potential decommissioning. Method: The protocol used to create this map was published a priori. Systematic searches of published, literature in English were conducted using three bibliographic databases, ten specialist organisational websites or repositories, and one search engine, up to early 2021. A total of 15,697 unique articles were identified as potentially relevant to our research questions, of which 2,230 were screened at the full-text level. Of that subset, 860 articles met all pre-defined eligibility criteria. A further 119 articles were identified through “snowballing” of references from literature reviews. The final database consists of 979 articles. For each article included, metadata were extracted for key variables of interest and coded into a database. Review findings: The vast majority of eligible articles related to the presence of MMS (96.2%), while just 5.8% considered decommissioning. Overall, articles mainly considered artificial reefs (51.5% of all articles) but increasingly oil and gas (22%), shipwrecks (15.1%) and offshore wind (13.1%). Studies were distributed globally, but the majority focused on the United States, single countries within Europe, Australia, Brazil, China, and Israel; 25 studies spanned multiple countries. Consequently, the bulk of the studies focused on the North Atlantic (incl. Gulf of Mexico, North Sea, and Mediterranean Sea) and North Pacific Oceans. A further 12 studies had a global scope. Studies in majority reported on fish (53%) and invertebrates (41%), and were disproportionately focused on biological (81%) and ecological (48%) impacts. Physico-chemical (13%), habitat (7%), socio-cultural (7%), economic (4%) and functional (8%) outcomes have received less attention. The number of decommissioning studies has been increasing since ca. 2012 but remains noticeably low. Studies mostly focus on oil and gas infrastructures in the USA (Gulf of Mexico) and Northern Europe (North Sea), covering 9 different decommissioning options. Conclusions: This systematic map, the first of its kind, reveals a substantial body of peer-reviewed evidence relating to the presence of MMS in the sea and their impacts, but with considerable bias toward biological and ecological outcomes over abiotic and socio-economic outcomes. The map reveals extremely limited direct evidence of decommissioning effects, likely driven at least in part by international policy preventing consideration of a range of decommissioning options beyond complete removal. Despite evidence of MMS impacts continuing to grow exponentially since the early 1970s, this map reveals key gaps in evidence to support best practice in developing decommissioning options that consider environmental, social and economic effects. Relevant evidence is required to generate greater understanding in those areas and ensure decommissioning options deliver optimal ecosystem outcomes