Quantitative disentanglement of nanocrystalline phases in cement pastes by synchrotron ptychographic X-ray tomography

Mortars and concretes are ubiquitous materials with very complex hierarchical microstructures. To fully understand their main properties and to decrease their CO2 footprint, a sound description of their spatially resolved mineralogy is necessary. Developing this knowledge is very challenging as about half of the volume of hydrated cement is a nanocrystalline component, calcium silicate hydrate (C-S-H) gel. Furthermore, other poorly crystalline phases (e.g. iron siliceous hydrogarnet or silica oxide) may coexist, which are even more difficult to characterize. Traditional spatially resolved techniques such as electron microscopy involve complex sample preparation steps that often lead to artefacts (e.g. dehydration and microstructural changes). Here, synchrotron ptychographic tomography has been used to obtain spatially resolved information on three unaltered representative samples: neat Portland paste, Portland–calcite and Portland–fly-ash blend pastes with a spatial resolution below 100 nm in samples with a volume of up to 5 x 104 mm3. For the neat Portland paste, the ptychotomographic study gave densities of 2.11 and 2.52 g cm -3 and a content of 41.1 and 6.4 vol% for nanocrystalline C-S-H gel and poorly crystalline iron siliceous hydrogarnet, respectively. Furthermore, the spatially resolved volumetric mass-density information has allowed characterization of inner-product and outer-product C-S-H gels. The average density of the inner-product C-S-H is smaller than that of the outer product and its variability is larger. Full characterization of the pastes, including segmentation of the different components, is reported and the contents are compared with the results obtained by thermodynamic modelling.This work has been supported by MINECO through BIA2014-57658 and BIA2017-82391-R research grants, which are cofunded by FEDER. Instrumentation development was supported by SNF (R’EQUIP, No. 145056,‘OMNY’) and the Competence Centre for Materials Science and Technology (CCMX) of the ETH-Board, Switzerland

Identificación de variantes genéticas asociadas a la sensibilidad solar

Introducción: La sensibilidad a la radiación ultravioleta está determinada por característicaspigmentarias influenciadas por varios genes. Ciertos rasgos de la pigmentación,como tener un color de piel claro, tener muchas efélides y/o nevus y una dificultadde bronceado, son indicadores de una mayor susceptibilidad a esta radiación solary, por tanto, al cáncer de piel. Sin embargo, poco se conoce sobre los determinantesgenéticos asociados a la sensibilidad solar, a excepción del gen MC1R. Este estudioanaliza las bases genéticas de la sensibilidad solar y la predisposición al cáncer cutáneoen una población española. Metodología: En el estudio participaron 300 voluntarios.Mediante un cuestionario estandarizado, se recogieron características fenotípicasde pigmentación, historia de quemaduras solares y hábitos de exposición solar. Paracada individuo, se determinó el genotipo de genes involucrados en la ruta de la pigmentaciónhumana – MC1R, ASIP, TYR, OCA2, HERC2, SLC24A4, BNC2, IRF4,KITLG, y SLC45A2. El análisis de asociación entre las características fenotípicas y elgenotipo se realizó con una regresión logística, utilizando el programa SPSS v24. Resultados:El mayor determinante genético de los rasgos de pigmentación y sensibilidadsolar es el gen MC1R. Polimorfismos en IRF4, ASP y SLC45A2 también pareceninfluir en la pigmentación cutánea basal, así como en la aparición de lesiones hiperpigmentadasbenignas. Conclusión: Los individuos con fenotipo de riesgo tienensignificativamente mayor número de polimorfismos asociados con una peor toleranciaal sol. Individuos portadores de estos polimorfismos tendrían una mayor sensibilidad ala radiación solar y, por tanto, a padecer cáncer cutáneo.Introduction: Sensitivity to ultraviolet radiation is determined by pigmentation traits, which are influenced by several genes. Particular pigmentation characteristics, such as having fair skin, having ephelides and/or naevi, and the inability to tan, are associated with a high sensitivity to sunlight and, therefore, a predisposition to skin cancer. However, little is known about the genetic determinants associated with sunlight sensitivity, apart from MC1R gene. This study analyses the genetic basisof sunlight sensitivity and skin cancer susceptibility in a Spanish population. Methodology: Three-hundred volunteers participated in the study. Phenotypic characteristics of pigmentation, history of sunburn and sun exposure behaviour were collectedby using a standardized questionnaire. For each participant, we examined the genotype of the following genes involved in the human pigmentation pathway: MC1R, ASIP, TYR, OCA2, HERC2, SLC24A4, BNC2, IRF4, KITLG,and SLC45A2. To determine the association with phenotypic characteristics, a logistic regression was performed for each polymorfism. Statistical analysis were perfomed by using SPSS v24 software. Results: The major genetic determinant of pigmentation and sunlight sensitivity traits is the MC1R gene. Polymorphisms in IRF4, ASIP and SLC45A4 also seems to impacton basal skin pigmentation, as well as on the appearance of benign hyperpigmented lesions. Conclusion: Individuals having a risk phenotype carry significantly a higher number of genetic variants associated with reduced tolerance to sun exposure. Individuals carrying these polymorphisms would have a higher sensitivity to UV radiation and, therefore, an increased susceptibility todevelop skin cancer

Genetic determinants of freckle occurrence in the Spanish population: Towards ephelides prediction from human DNA samples

Prediction of human pigmentation traits, one of the most differentiable externally visible characteristics among individuals, from biological samples represents a useful tool in the field of forensic DNA phenotyping. In spite of freckling being a relatively common pigmentation characteristic in Europeans, little is known about the genetic basis of this largely genetically determined phenotype in southern European populations. In this work, we explored the predictive capacity of eight freckle and sunlight sensitivity-related genes in 458 individuals (266 non-freckled controls and 192 freckled cases) from Spain. Four loci were associated with freckling ( MC1R , IRF4 , ASIP and BNC2 ), and female sex was also found to be a predictive factor for having a freckling phenotype in our population. After identifying the most informative genetic variants responsible for human ephelides occurrence in our sample set, we developed a DNA-based freckle prediction model using a multivariate regression approach. Once developed, the capabilities of the prediction model were tested by a repeated 10-fold cross- validation approach. The proportion of correctly predicted individuals using the DNA-based freckle prediction model was 74.13%. The implementation of sex into the DNA-based freckle prediction model slightly improved the overall prediction accuracy by 2.19% (76.32%). Further evaluation of the newly-generated prediction model was performed by assessing the model ’ s performance in a new cohort of 212 Spanish individuals, reaching a classification success rate of 74.61%. Validation of this prediction model may be carried out in larger populations, including samples from different European populations. Further research to validate and improve this newly- generated freckle prediction model will be needed before its forensic application. Together with DNA tests already validated for eye and hair colour prediction, this freckle prediction model may lead to a substantially more detailed physical description of unknown individuals from DNA found at the crime scene

Thematic Trends in Complementary and Alternative Medicine Applied in Cancer-Related Symptoms

Purpose: The main goal of this study is to discover the scientific evolution of Cancer-Related Symptoms in Complementary and Alternative Medicine research area, analyzing the articles indexed in the Web of Science database from 1980 to 2013. Design/Methodology/Approach: A co-word science mapping analysis is performed under a longitudinal framework (1980 to 2013). The documental corpus is divided into two subperiods, 1980–2008 and 2009–2013. Thus, the performance and impact rates, and conceptual evolution of the research field are shown. Findings: According to the results, the co-word analysis allows us to identify 12 main thematic areas in this emerging research field: anxiety, survivors and palliative care, meditation, treatment, symptoms and cancer types, postmenopause, cancer pain, low back pain, herbal medicine, children, depression and insomnia, inflammation mediators, and lymphedema. The different research lines are identified according to the main thematic areas, centered fundamentally on anxiety and suffering prevention. The scientific community can use this information to identify where the interest is focused and make decisions in different ways. Research limitation: Several limitations can be addressed: 1) some of the Complementary and Alternative Medicine therapies may not have been included; 2) only the documents indexed in Web of Science are analyzed; and 3) the thematic areas detected could change if another dataset was considered. Practical implications: The results obtained in the present study could be considered as an evidence-based framework in which future studies could be built. Originality/value: Currently, there are no studies that show the thematic evolution of this research area

Музично-етнографічні польові дослідження (на прикладі обстеження історичної Хотинщини)

The author of the article researches the approaches of musical-ethnographic work, its methods and goals, as well as the choice of the specific territory and its exploration defined by them. The author comments on his intention to examine the area of Khotyn, which now is a part of Chernivtsy region; explains the methods of examining the territory. Pluses and minuses of the existing song collections dedicated to the given district are under consideration in this article. In conclusion short information about Northern Bessarabia and its population is given

Nevus melanocítico gigante congénito

Introduction: giant melanocyte congenital nevus in rare, its incidence is 1 to every 20.000 or to 50.000 live births.Clinical case: a neonate is examined at birth, physical assessment of skin showed the presence of black pigmented lesions covering a great part of the trunk and sacral region, along with portions of skin having equal characteristics of hypertrichosis and smaller satellite lesions with all-body dissemination and scalp. Clinical diagnosis was giant melanocyte congenital nevus with multiple satellite nevi, without other associated malformations or neurological damage. The patient was discharged having dermatology, genetics and pediatrics follow-up. Conclusions: in the existence of giant melanocyte congenital nevus located in the posterior axial axis or the presence of satellite lesions, neurocutaneous melanosis or associated malformations must be investigated. Periodical controls should be performed because of the risk for melanoma development.Introducción: el nevo melanocítico congénito gigante es infrecuente, su incidencia es de 1 por cada 20.000 a 50.000 nacidos vivos. Caso clínico: se presentó el caso de un neonato que desde el momento de su nacimiento, se observó al examen físico de la piel, la presencia de lesiones pigmentadas de color negro que abarcaban la mayor parte del tronco, incluyendo la región sacra, así como porciones de piel de iguales características con hipertricosis y lesiones más pequeñas satelitales diseminadas por todo el cuerpo y cuero cabelludo. Se diagnosticó clínicamente de nevus melanocítico congénito gigante con múltiples nevos satelitales, sin otras malformaciones asociadas ni daño neurológico. Se egresó con un seguimiento por dermatología, genética y pediatría. Conclusiones: ante un nevo melanocítico congénito gigante ubicado en el eje axial posterior o la presencia de satelitosis, se debe pesquisar la presencia de melanosis neurocutánea o malformaciones asociadas. Se deben realizar los controles periódicos por el riesgo de desarrollo de melanoma

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

Considerable non-allelic heterogeneity for autosomal recessively inherited Charcot-Marie-Tooth (ARCMT) disease has challenged molecular testing and often requires a large amount of work in terms of DNA sequencing and data interpretation or remains unpractical. This study tested the value of SNP array-based whole-genome homozygosity mapping as a first step in the molecular genetic diagnosis of sporadic or ARCMT in patients from inbred families or outbred populations with the ancestors originating from the same geographic area. Using 10 K 2.0 and 250 K Nsp Affymetrix SNP arrays, 15 (63%) of 24 CMT patients received an accurate genetic diagnosis. We used our Java-based script eHoPASA CMT—easy Homozygosity Profiling of SNP arrays for CMT patients to display the location of homozygous regions and their extent of marker count and base-pairs throughout the whole genome. CMT4C was the most common genetic subtype with mutations detected in SH3TC2, one (p.E632Kfs13X) appearing to be a novel founder mutation. A sporadic patient with severe CMT was homozygous for the c.250G > C (p.G84R) HSPB1 mutation which has previously been reported to cause autosomal dominant dHMN. Two distantly related CMT1 patients with early disease onset were found to carry a novel homozygous mutation in MFN2 (p.N131S). We conclude that SNP array-based homozygosity mapping is a fast, powerful, and economic tool to guide molecular genetic testing in ARCMT and in selected sporadic CMT patients

Elgvandringer i grenseland med følger for skogbruk, jakt og rovdyr

Forvaltning av elg i områder med en delvis trekkende elgbestand byr på utfordringer, fordi kostnadene i form av beiteskader på skogen og goder i form av elgjakt ofte berører forskjellige grunneiere. Dette blir ytterligere komplisert når elgtrekket går på tvers av forvaltningsinndelinger eller til og med over riksgrensen. GRENSEVILT har studert samspillet mellom elg, ulv, skogbruk og jakt i nordre Finnskogen, et stort barskogsområde som er delt av riksgrensen. For å berenge størrelsenpå elgbestanden og beskrive den romlige fordelingen av elg for vintrene 2019/20 og 2020/21, samt somrene 2020 og 2021,har vi gjennomført elgmøkktellinger over et areal på mer enn 3500 km2. Vi ønsket også å studere hvordan elgtrekket påvirker ulvens områdebruk, beitepå furu, og jaktuttaket. Derfor har vived hjelp av GPS-halsbånd analysert områdebruken til fire ulveflokker i samme område. Dessuten gjennomførte vi på våren 2021 en stor beitetakst som kombinerte den norke Solbraa-og den svenske Äbin-metoden. Til slutt har vi sammenstilt jaktdata fra norske vald og svenske älgjaktområder for jaktårene 2019/20 og 2020/21.Vi beregnet elgens tetthet for tidsserien vinter 2019/20, sommer 2020, vinter 2020/21, og sommer 2021 til henholdsvis 1,18, 1,37, 1,01, og 1,70dyr/km2. Om sommeren var elgen noksåjevnt fordelt over hele studieområdet, og om vinteren stod elgen mer konsentrert i de snøfattige områdene, mens det var lite elgi de nordlige, snørike områdene. Til tross for at elgens fordeling endret seg mellom sommer og vinter, opprettholdt ulveflokkene de samme revirgrensene gjennom hele året. Derimot tilpasset de sine aktivitetsområder innenfor revirgrensene til endringen i elgfordelingen. Elgens vinterkonsentrasjonsområder var kjennetegnet ved et større beitetrykk på furu. Skader på produksjontrær var mest hyppig langs dalbunnen og i områder med mye lauvkratt, men vi fant ikke noe tydelig sammenheng mellom skadegrad og elgens vinterfordeling. Elgens effekt på skogbruk målt med den norske Solbraa-metoden viste at beitegraden på furu var stort sett liten. Den svenske Äbin-metoden tegnet et helt motsatt bilde, og bedømmetskadegraden på de samme prøveflatenesomsvært alvorlig. Jaktuttaket i jaktområdene gjenspeilet fordelingen av elg sommerstid i Norge, men ikke i Sverige, der det ble skutt mest elg i områdene med lavest sommertetthet. De hardest beskattede jaktområdene i Sverige hadde en lavere elgtetthet vinteren etter jakt. Vi fant ikke noensammenheng mellom beite-eller skadegrad på furu og jaktuttak i jaktområdene. I den østlige delen av studieområdet som har et stort innslag av trekkelg som oppholder seg på norsk side på sommeren og under jakta, men trekker til Sverige når snøen hoper seg opp lenger nord, var det en tydelig mismatch i forvaltningen av elg mellom de to landene. Mens man i Sverige satset på et høyt jaktuttak for å få bukt med beiteskader,og i tillegg beskattet trekkelg ved januarjakt,sparte man på avskytingen på norsk side fordi beitegraden ikke var bekymringverdigog elgens sommerbestand også ble utsatt for ulvens uttak i tillegg til vinterjakt på svensk side .Vi foreslår en bedre samordning av elgforvaltningen på tvers av riksgrensen. Det krever dialog og samarbeid mellom rettighetshaverne. Et felles elgforvaltningsområde som strekker seg over grensen og dekker trekkelgens helårsområde hadde gjort et slikt samarbeid enklere. Dessuten foreslår vi en samordning av beitetakstmetoden og en felles trafikklysmodell som baserer seg på tetthet av uskadde produksjonstrær heller enn beite-eller skadegraden

The effect of electroporation pulses on functioning of the heart

Electrochemotherapy is an effective antitumor treatment currently applied to cutaneous and subcutaneous tumors. Electrochemotherapy of tumors located close to the heart could lead to adverse effects, especially if electroporation pulses were delivered within the vulnerable period of the heart or if they coincided with arrhythmias of some types. We examined the influence of electroporation pulses on functioning of the heart of human patients by analyzing the electrocardiogram. We found no pathological morphological changes in the electrocardiogram; however, we demonstrated a transient RR interval decrease after application of electroporation pulses. Although no adverse effects due to electroporation have been reported so far, the probability for complications could increase in treatment of internal tumors, in tumor ablation by irreversible electroporation, and when using pulses of longer durations. We evaluated the performance of our algorithm for synchronization of electroporation pulse delivery with electrocardiogram. The application of this algorithm in clinical electroporation would increase the level of safety for the patient and suitability of electroporation for use in anatomical locations presently not accessible to existing electroporation devices and electrodes