The objective of this study was to evaluate the modulus of elasticity and wood quality for structural use in standing trees of Pinus montezumae Lamb. in a natural forest. An acoustic method was used, measuring the ultrasonic flight time for one cross-sectional and two longitudinal sections in 70 trees. Significant differences were found between the two longitudinal moduli of elasticity, and the P. montezumae trees in the study area show potential for structural use according to the modulus of elasticity. It is concluded that for sustainable management, wood of medium quality would be obtained in the same proportion for the first two sections of the tree stems, while high-quality logs would be obtained in the second longitudinal section (2–4 m).
The percentage of juvenile wood in fast-growing conifers is a determinant of the basic properties, since its proportion increases as the rotation age decreases. This wood is characterized by having less length and thickness of tracheids and greater microfibrillar angle, which translates into lower density and lower elastoresistant properties. To delimit the transition age of wood (juvenile -mature), we carried out a radial analysis of some of the mentioned characteristics. The importance of establishing transition age lies in the estimation of the volumes of both woods, their quality and potential use. The objective of the work was to determine the transition age and compare its elasto-resistant values in Pinus contorta (lodgepole). Based on nine samples of 35 years -old, we have been working with north and south radius for anatomical studies, while we used juvenile and mature wood for physical -mechanical tests. The transition ages were between 12 and 16,5 years, north and south direction, respectively. The anatomical, physical and mechanical variables differed significantly, being higher in the mature wood. Repeating our analysis framework in other study sites could generate an informative database of this species for the region.
Background The main genetic cause of iron overload is haemochromatosis (HC). In recent years, the study of non-HFE genes (HFE2, HJV, HAMP, TRF2, SLC40A1, and BMP6) has become relevant thanks to next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) techniques. Our objectives were to estimate the prevalence of both HFE (C282Y/HY63D variants) and non-HFE variants attending a tertiary hospital in Aragón, to predict the effect of the variants on the protein, and to establish a genotype–phenotype correlation evaluating with the clinical context. Methods Retrospective descriptive study from 2006 to 2020 of patients attended at genetic consultation in a reference hospital for HC in Aragon. We calculated prevalence of HFE and non-HFE variants. We analysed non-HFE genes (HFE2, HJV, HAMP, TRF2, SLC40A1, and BMP6), used bioinformatics tools, consulted different databases and measured clinical parameters (laboratory and imaging). Results The prevalence of C282Y homozygous was 5.95% respect the total of cases and 0.025% respect our population. The prevalence of non-HFE HC variants was 1.94% respect the total of cases and 0.008% respect our population. We found 27 variants in non-HFE genes and 4 in HFE gene, of which 6 were classified as variant of uncertain clinical significance (VUS), or likely pathogenic or pathogenic according to the ACMG classification criteria. Conclusion Our prevalence results are as expected, and similar to those obtained by other studies. Although some of the genetic findings explain the clinical symptoms of some of our patients, we remain have a high number of patients without a clear molecular diagnosis.
A new approach for the diagnosis of Wilson's disease based on ICP-MS analysis and machine learning is described.
Haemochromatosis (HC) is an inherited disorder of iron metabolism. The 85-90% of Hereditary hemochromatosis cases are caused by mutations in HFE gene (HC type 1). The remaining 10-15% of HC cases are caused by mutations in other non-HFE genes (HJV, HAMP, TRF2, SLC40A1, BMP6). The study of patients for the diagnosis of HC has an important laboratory approached: analysis of biochemical parameters and genetic studies. To confirm a case, it is necessary to carry out a genetic study of the C282Y and H63D mutations. The presence of C282Y mutation in homozygosis is compatible with the diagnosis of HC type 1. Due to the incomplete penetrance of this mutation and the variable phenotypic expression, the severe forms of the disease are relatively rare. The study of variants in non-HFE genes allows more detailed study of both non-classic HC cases and those with more severe clinical expression. The genotype characterization of a patient not always justified the phenotype expression of the symptoms in this disease. All laboratory clinicians must consider recommendation provide by the experts in the Materia.
The presence of microdeletions in the Y-chromosome azoospermia factor (AZF) region (YCMs) is considered the most frequent genetic cause of male infertility along with Klinefelter syndrome. The objective of this study was to investigate the frequencies and type of YCMs in infertile men in Aragon and to analyze the relationship between sex hormones, sperm count and microdeletions in them.Retrospective descriptive study of 644 men who during 2006-2019 were screened for YCMs using YChromStrip (Operón, Spain) by PCR+reverse hybridization, spermiogram, karyotype and quantification of sex hormones.The frequency of YCMs was 3.88% (25/644), not being detected in any patient with mild or normospermic oligozoospermia, that is, in sperm counts higher than 5×106/mL. The group of azoospermic patients was the one that presented a higher frequency of YCMs (14.58%, 14/96). Deletions in the AZFc region were the most frequent (68%). 20% (5/25) of patients with YCMs also presented some type of karyotype abnormality that included aneuploidies, deletions, duplications and/or translocations. Sperm count was significantly lower and FSH and LH concentrations significantly higher in the group of patients with YCMs.YCMs screening is a key test in the diagnostic approach to male infertility. Obtaining an adequate result allows choosing suitable assisted reproduction techniques, preventing unnecessary treatments and the transmission of genetic defects to offspring.
This study focuses on Populus ×euramericana (Dode) Guinier, a globally distributed fast-growing tree. Despite its valuable wood, it exhibits low durability. The aim of this study was to assess the efficacy of a binary composite comprising silver nanoparticles (AgNPs) and chitosan oligomers (COS) in protecting P. ×euramericana ‘I-214’ wood against degradation caused by xylophagous fungi and termites through vacuum-pressure impregnation. The test material was carefully selected and conditioned following the guidelines of EN 350:2016, and impregnation was carried out in accordance with EN 113-1:2021. Five concentrations of AgNPs–COS composites were utilized. Biodeterioration resistance was evaluated based on EN 350:2016 for white (Trametes versicolor (L.) Lloyd) and brown (Coniophora puteana (Schumach.) P.Karst.) rot fungi, and EN 117:2012 for subterranean termites (Reticulitermis grassei Clément). The durability class and use class were assigned following EN 350:2016 and EN 335:2013, respectively. In comparison to the untreated control, the binary solution at its highest concentration (AgNPs 4 ppm + COS 20 g·L−1) demonstrated a notable reduction in weight loss, decreasing from 41.96 ± 4.49% to 30.15 ± 3.08% for white-rot fungi and from 41.93 ± 4.33% to 27.22 ± 0.66% for brown rot fungi. Furthermore, the observed termite infestation shifted from “heavy” to “attempted attack”, resulting in a decrease in the survival rate from 53.98 ± 10.40% to 26.62 ± 8.63%. Consequently, the durability classification of P. ×euramericana I-214 witnessed an enhancement from “Not durable” to “Slightly” and “Moderately durable” concerning decay fungi and termites, respectively. These findings expand the potential applications of this wood and substantiate the advantages of employing this environmentally friendly treatment.
After the beginning of the SARS-CoV-2 pandemic, our dermatology department created a multidisciplinary unit to manage patients with cutaneous manifestations associated with COVID-19. With the objective of identifying skin lesions in patients with suspected COVID-19 and evaluating possible associations with systemic involvement, other infectious agents and coagulation disorders, we carried out a prospective observational study that included all patients that attended our COVID-19 dermatology clinic with a multidisciplinary protocol. A total of 63 patients (mean 34.6 years) were enrolled between May 2020 and February 2021. Overall, 27 patients (42.9%) had a positive COVID-19 test, and 74.6% had COVID-19 clinical signs. The most common skin lesion was maculopapular rash (36.5%), predominantly seen in male (54.2%) and older patients (42 vs. 30 years), followed by chilblain-like lesions (20.6%) in younger patients (13.9 vs. 20.9 years) who were predominantly barefoot at home (69.2%); these patients exhibited a tendency towards a negative COVID-19 test. A total of 12 patients (19.1%) had positive serology for herpesvirus 6 (IgM or IgG). We conclude that the COVID-19-associated skin lesions we observed were similar to those previously described. Questions as to the underlying mechanisms remain. Interferon, possibly aided by cold exposure, may cause perniosis-like lesions. Other cutaneous manifestations were similar to those caused by other viruses, suggesting that SARS-CoV-2 may reactivate or facilitate other viral infections.
BACKGROUND AND OBJECTIVE:The presence of microdeletions in the Y-chromosome azoospermia factor (AZF) region (YCMs) is considered the most frequent genetic cause of male infertility along with Klinefelter syndrome. The objective of this study was to investigate the frequencies and type of YCMs in infertile men in Aragon and to analyze the relationship between sex hormones, sperm count and microdeletions in them. PATIENTS AND METHODS:Retrospective descriptive study of 644 men who during 2006-2019 were screened for YCMs using YChromStrip (Operón, Spain) by PCR+reverse hybridization, spermiogram, karyotype and quantification of sex hormones. RESULTS:The frequency of YCMs was 3.88% (25/644), not being detected in any patient with mild or normospermic oligozoospermia, that is, in sperm counts higher than 5×106/mL. The group of azoospermic patients was the one that presented a higher frequency of YCMs (14.58%, 14/96). Deletions in the AZFc region were the most frequent (68%). 20% (5/25) of patients with YCMs also presented some type of karyotype abnormality that included aneuploidies, deletions, duplications and/or translocations. Sperm count was significantly lower and FSH and LH concentrations significantly higher in the group of patients with YCMs. CONCLUSIONS:YCMs screening is a key test in the diagnostic approach to male infertility. Obtaining an adequate result allows choosing suitable assisted reproduction techniques, preventing unnecessary treatments and the transmission of genetic defects to offspring.
A new method for Cu isotopic analysis was developed using a commercially available electrothermal vaporization (ETV) device coupled to multicollector-inductively coupled plasma mass spectrometry (MC-ICP-MS). The method demonstrated potential for the isotopic analysis of microsamples (e.g., 5 mu L) in a biological context. For example, Cu isotopic analysis of NIST 3114 (diluted to 1 mg L-1 Cu) using self-bracketing provided average delta Cu-65 values of 0.00 +/- 0.17%0 (2SD, n = 10) and internal precision values of 712 ppm. In order to achieve this level of accuracy and precision, it is critical to properly deal with the short transient signals generated by the ETV-MC-ICP-MS, which implies using point by point calculations and time lag detector correction (TDC), as well as a criterion to reject potential outliers. The results of this technique were compared with the results obtained via femtosecond-laser ablation-MC-ICPMS using the same pre-treated serum samples. No significant differences were observed among the results obtained in both cases, while external precision was 0.26%0 for ETV-MC-ICP-MS and 0.24%0 for fs-LA-MC-ICP-MS, expressed as median value of 2SD (n = 27), further proving the usefulness of the approach proposed in this context, as the use of ETV results in a more straightforward approach.
El cáncer de próstata tiene un protagonismo socio-sanitario innegable en nuestros días y sistemas de salud. Su impacto epidemiológico cuantitativamente está muy próximo a otros tumores como el cáncer de colon y el cáncer de mama, en los que el asesoramiento genético forma parte de su práctica clínica habitual, tanto en la evaluación inicial como en la selección de estrategias terapéuticas. Los síndromes de cáncer hereditario, mama/ovario y síndrome de Lynch, forman parte del asesoramiento genético en estos tumores y hoy día también sabemos que pueden tener relación con el cáncer de próstata.
Introduction The accurate estimation of low-density lipoprotein cholesterol (LDL) is crucial for management of patients at risk of cardiovascular events due to dyslipidemia. The LDL is typically calculated using the Friedewald equation and/or direct homogeneous assays. However, both methods have their own limitations, so other equations have been proposed, including a new equation developed by Sampson. The aim of this study was to evaluate Sampson equation by comparing with the Friedewald and Martin-Hopkins equations, and with a direct LDL method. Materials and methods Results of standard lipid profile (total cholesterol (CHOL), high-density lipoprotein cholesterol (HDL) and triglycerides (TG)) were obtained from two anonymized data sets collected at two laboratories, using assays from different manufacturers (Beckman Coulter and Roche Diagnostics). The second data set also included LDL results from a direct assay (Roche Diagnostics). Passing-Bablok and Bland-Altman analysis for method comparison was performed. Results A total of 64,345 and 37,783 results for CHOL, HDL and TG were used, including 3116 results from the direct LDL assay. The Sampson and Friedewald equations provided similar LDL results (difference ≤ 0.06 mmol/L, on average) at TG ≤ 2.0 mmol/L. At TG between 2.0 and 4.5 mmol/L, the Sampson-calculated LDL showed a constant bias (- 0.18 mmol/L) when compared with the Martin-Hopkins equation. Similarly, at TG between 4.5 and 9.0 mmol/L, the Sampson equation showed a negative bias when compared with the direct assay, which was proportional (- 16%) to the LDL concentration. Conclusions The Sampson equation may represent a cost-efficient alternative for calculating LDL in clinical laboratories.
BACKGROUND-AIMFungal urinary tract infection (UTI) is usually caused by Candida species, being Candida albicans the most frequent.Urine examination (urine sediment analysis+urine culture) plays a key role in its diagnosis.As leukocyturia is a cardinal sign of UTI, the urine sediment in fungal UTI should present fungal structures besides leukocytes.Once the presence of Candida in the urine is confirmed, careful clinical evaluation should be performed.The main difficulty is to identify if the urinary finding of yeast has a diagnostic value or if it is just a sample contamination.
The deposition of microdroplets onto silicon wafers followed by drying and fsLA is evaluated by MC-ICP-MS Cu isotopic analysis.
Fast and simple determination of Cu in blood is proposedviadirect analysis of dried blood spots of known volume.
Prostate cancer plays an undeniably prominent role in public health in our days and health systems. Its epidemiological impact is quantitatively very close to that of other tumors such as colon cancer and breast cancer, in which genetic counseling is part of their routine clinical practice, both in the initial evaluation and in the selection of therapeutic strategies. Hereditary cancer syndromes, breast/ovarian and Lynch syndrome are part of genetic counseling in these tumors. Currently, we also know that they can be associated to prostate cancer. The time has come to implement genetic counseling in prostate cancer from the earliest stages of its approach, from initial suspicion to the most advanced tumors. We present an updated review carried out by our interdisciplinary working group on scientific literature, clinical practice guidelines and consensus documents, aimed at the creation and drafting of a'Protocol for genetic counseling in prostate cancer' for the study of germline, with easy application in different healthcare settings. This protocol is currently being implemented in our routine practice and provides answers to 3 specific questions: Who should receive genetic counseling for prostate cancer? Which gene panel should be analyzed? How should counseling be done according to the results obtained? Other aspects about who should perform genetic counseling, ethical considerations and regulations are also collected. (C) 2020 AEU. Published by Elsevier Espana, S.L.U. All rights reserved.
There is growing interest in the development of non-toxic, natural wood preservation agents to replace conventional chemicals. In this paper, the antifungal activities of silver nanoparticles, chitosan oligomers, and propolis ethanolic extract were evaluated against white-rot fungus Trametes versicolor (L.) Lloyd, with a view to protecting Populus spp. wood. In order to create a more realistic in-service type environment, the biocidal products were assessed according to EN:113 European standard, instead of using routine in vitro antimicrobial susceptibility testing methods. Wood blocks were impregnated with the aforementioned antifungal agents by the vacuum-pressure method in an autoclave, and their biodeterioration was monitored over 16 weeks. The results showed that treatments based on silver nanoparticles, at concentrations ranging from 5 to 20 ppm, presented high antifungal activity, protecting the wood from fungal attack over time, with weight losses in the range of 8.49% to 8.94% after 16 weeks, versus 24.79% weight loss in the control (untreated) samples. This was confirmed by SEM and optical microscopy images, which showed a noticeably higher cell wall degradation in control samples than in samples treated with silver nanoparticles. On the other hand, the efficacy of the treatments based on chitosan oligomers and propolis gradually decreased over time, which would be a limiting factor for their application as wood preservatives. The nanometal-based approach is thus posed as the preferred choice for the industrial treatment of poplar wood aimed at wood-based engineering products (plywood, laminated veneer lumber, cross-laminated timber, etc.).
BACKGROUND/OBJECTIVES:Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, and is often associated with a personal or family history of atopic disease. The presence of loss-of-function mutations in the filaggrin gene (FLG) is the main predisposing factor for AD FLG mutations show ethnic and geographical variations, even between European populations. We sought to determine the frequency of the 3 most common FLG null mutations in a population of Spanish children consisting of healthy controls and AD patients. We also investigated the association between these 3 FLG mutations and AD.METHODS:A total of 214 participants (111 AD patients and 103 healthy controls) were enrolled in this study. Genotyping for 3 FLG null mutations (R501X, 2282del4, and R2447X) was performed by conventional Sanger sequencing.RESULTS:The combined mutation frequency was 1.9% in the control group and 12.6% in the AD group. The most common FLG mutation in AD patients was R501X (9.9%), followed by R2447X (2.7%) and 2282del4 (1.8%).CONCLUSION:These findings further our understanding of the prevalence of FLG null mutations in the Spanish population, and suggest that the frequency of FLG mutations in AD patients in Spain is slightly higher than that of other Mediterranean countries.
Background and objectives: Thyroid dysfunction during pregnancy affects maternal and foetal health, which may influence the child's neurocognitive development. The thyroid physiology changes during pregnancy, requiring reference values (RV) to be established for each population and method. The objectives were to determine these thyroid hormone (TH) RV using 2 immunoassays and to estimate the nutritional status of iodine and the prevalence of thyroid autoimmunity in our population. Patients and methods: A total of 378 pregnant women from the health sectors of Zaragoza and Huesca, whose urinary iodine, antithyroid antibody and TH levels were assessed by 2 different immunoassays (Beckman and Siemens), were enrolled. Results: The mean urinary iodine concentration was 187 mu g/l, with a median concentration of 146 mu g/l. From them, 78% took potassium iodide supplements and their consumption was related to higher levels of urinary iodine; 10.8% were positive for antithyroid peroxidase antibodies, 4.4% for anti-thyroglobulin antibodies, 2.4% for both and 4.1% for anti-TSHr. There was no association between urinary iodine and TSH or T4L. The reference values of TSH in the first trimester were Beckman: 0.2-4 and Siemens 0.2-3.4 rnIU/l. Conclusion: The thyroid hormone reference values were markedly different from those proposed by the ATA-2011 guidelines but practically identical to those described in the Spanish population using the same immunoassays, as proposed by the ATA-2017 guidelines. Thyroid auto immunity was similar to that published nationally and internationally. The mean and median urinary iodine levels are among the highest published in Spain to date and depend mainly on supplementation with potassium iodide to reach the WHO objectives, supporting the recommendations for supplementation with at least 150 rig of iodine. (C) 2017 Elsevier Espana, S.L.U. All rights reserved.