ОПРЕДЕЛЕНИЕ ОСНОВНЫХ ПОРОДООБРАЗУЮЩИХ ЭЛЕМЕНТОВ, СТРОНЦИЯ И ЦИРКОНИЯ РЕНТГЕНОФЛУОРЕСЦЕНТНЫМ МЕТОДОМ ДЛЯ ГЕОХИМИЧЕСКОЙ ХАРАКТЕРИСТИКИ ДОННЫХ ОТЛОЖЕНИЙ

Quantitative X-ray fluorescence determination of major rock-forming oxides (Na2O, MgO, Al2O3, SiO2, P2O5, K2O, CaO, TiO2, MnO and Fe2O3) and some microelements (Sr and Zr) was performed in the samples of 143 cm-long sediment core of Lake Baunt (Buryat Republic) by the wavelength-dispersive X-ray fluorescence analysis on the S8 Tiger spectrometer. Calibration curves were obtained by measuring the certified reference materials of the sedimentary rocks. Both analyzed and reference samples were prepared as glass beads by fusion of 110 mg of sample with1.1 g of lithium metaborate. We have used 110 mg mass to ensure the formation of beads with appropriate 10 to 12 mm size across to be measured by the spectrometer with8 mm mask. Rh Kα Compton line was used as a background standard for Sr and Zr determination. The repeatability did not exceed the allowable standard deviation for a wide range of concentrations. Results of major rock-forming oxides determination were compared with the data of spectrophotometry and flame photometry techniques, results of Sr and Zr determination were compared with the data of synchrotron radiation excited X-ray fluorescence technique. All results of the X-ray fluorescence analysis were accepted as satisfactory. Quantitative analysis of each centimeter of Lake Baunt sediment core allowed building first reconstructions of the local environment during the last 7000 years with unique resolution of about 100 years.Keywords: wavelength-dispersive X-ray fluorescence analysis, synchrotron radiation induced X-ray fluorescence analysis, sediments, paleoclimate (Russian)DOI: http://dx.doi.org/10.15826/analitika.2017.21.1.003A.A. Amosova, V.M. Chubarov,E.V. Kaneva, Iu.N. MarkovaVinogradov Institute of Geochemistry, Siberian Branch of Russian Academy of Sciences, ul. Favorsky, 1A, Irkutsk, 664033, Russian FederationМетодика, разработанная для количественного рентгенофлуоресцентного анализа малых навесок изверженных горных пород, применена для осадочных горных пород, которые существенно отличаются по химическому и минеральному составу, в частности, могут содержать более 15 % органической составляющей. Градуировочные уравнения были построены с использованием стандартных образцов континентальных рыхлых отложений, речных и морских илов и глин. Были прокалены и сплавлены в форме стеклянных дисков с метаборатом лития 143 образца керна донных отложений континентального озера Баунт (республика Бурятия). Правильность определения основных породообразующих компонентов (Na2O, MgO, Al2O3, SiO2, P2O5, K2O, CaO, TiO2, MnO, Fe2O3) и некоторых микроэлементов (Sr, Zr) рентгенофлуоресцентным методом оценена сопоставлением полученных результатов с данными анализа методами спектрофотометрии, пламенной фотометрии и рентгенофлуоресцентного анализа с возбуждением синхротронным излучением. Полученные результаты соответствуют требованиям количественного химического анализа. Рентгенофлуоресцентный анализ каждого сантиметра керна донных отложений озера Баунт позволил выявить за последние 7000 лет значительные вариации содержаний элементов, их соотношений и геохимических индексов, важных при палеоклиматических реконструкциях изменений региональных условий окружающей среды.Ключевые слова: рентгенофлуоресцентный анализ с волновой дисперсией, рентгенофлуоресцентный анализ с возбуждением синхротронным излучением, донные отложения, палеоклиматDOI: http://dx.doi.org/10.15826/analitika.2017.21.1.00

Determination of main rock-forming elements, strontium and zirconium by X-ray fl uorescence analysis for the geochemical characterization of bottom sediments

Quantitative X-ray fluorescence determination of major rock-forming oxides (Na2O, MgO, Al2O3, SiO2, P2O5, K2O, CaO, TiO2, MnO and Fe2O3) and some microelements (Sr and Zr) was performed in the samples of 143 cm-long sediment core of Lake Baunt (Buryat Republic) by the wavelength-dispersive X-ray fluorescence analysis on the S8 Tiger spectrometer. Calibration curves were obtained by measuring the certified reference materials of the sedimentary rocks. Both analyzed and reference samples were prepared as glass beads by fusion of 110 mg of sample with 1.1 g of lithium metaborate. We have used 110 mg mass to ensure the formation of beads with appropriate 10 to 12 mm size across to be measured by the spectrometer with 8 mm mask. Rh Kα Compton line was used as a background standard for Sr and Zr determination. The repeatability did not exceed the allowable standard deviation for a wide range of concentrations. Results of maj photometry techniques, results of Sr and Zr determination were compared with the data of synchrotron radiation excited X-ray fluorescence technique. All results of the X-ray fluorescence analysis were accepted as satisfactory. Quantitative analysis of each centimeter of Lake Baunt sediment core allowed building first reconstructions of the local environment during the last 7000 years with unique resolution of about 100 years.Методика, разработанная для количественного рентгенофлуоресцентного анализа малых навесок изверженных горных пород, применена для осадочных горных пород, которые существенно отличаются по химическому и минеральному составу, в частности, могут содержать более 15 % органической составляющей. Градуировочные уравнения были построены с использованием стандартных образцов континентальных рыхлых отложений, речных и морских илов и глин. Были прокалены и сплавлены в форме стеклянных дисков с метаборатом лития 143 образца керна донных отложений континентального озера Баунт (республика Бурятия). Правильность определения основных породообразующих компонентов (Na2O, MgO, Al2O3, SiO2, P2O5, K2O, CaO, TiO2, MnO, Fe2O3) и некоторых микроэлементов (Sr, Zr) рентгенофлуоресцентным методом оценена сопоставлением полученных результатов с данными анализа методами спектрофотометрии, пламенной фотометрии и рентгенофлуоресцентного анализа с возбуждением синхротронным излучением. Полученные результаты соответствуют требованиям количественного химического анализа. Рентгенофлуоресцентный анализ каждого сантиметра керна донных отложений озера Баунт позволил выявить за последние 7000 лет значительные вариации содержаний элементов, их соотношений и геохимических индексов, важных при палеоклиматических реконструкциях изменений региональных условий окружающей среды

Updates in SJS/TEN: collaboration, innovation, and community

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN) is a predominantly drug-induced disease, with a mortality rate of 15–20%, that engages the expertise of multiple disciplines: dermatology, allergy, immunology, clinical pharmacology, burn surgery, ophthalmology, urogynecology, and psychiatry. SJS/TEN has an incidence of 1–5/million persons per year in the United States, with even higher rates globally. One of the challenges of SJS/TEN has been developing the research infrastructure and coordination to answer questions capable of transforming clinical care and leading to improved patient outcomes. SJS/TEN 2021, the third research meeting of its kind, was held as a virtual meeting on August 28–29, 2021. The meeting brought together 428 international scientists, in addition to a community of 140 SJS/TEN survivors and family members. The goal of the meeting was to brainstorm strategies to support the continued growth of an international SJS/TEN research network, bridging science and the community. The community workshop section of the meeting focused on eight primary themes: mental health, eye care, SJS/TEN in children, non-drug induced SJS/TEN, long-term health complications, new advances in mechanisms and basic science, managing long-term scarring, considerations for skin of color, and COVID-19 vaccines. The meeting featured several important updates and identified areas of unmet research and clinical need that will be highlighted in this white paper

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently, we identified the V471A polymorphism in the autophagy-related gene ATG7, a key component of the autophagy pathway that plays an important role in HD pathogenesis, to be associated with the age at onset in a large group of European Huntington disease patients. To confirm this association in a second independent patient cohort, we analysed the ATG7 V471A polymorphism in additional 1,464 European HD patients of the “REGISTRY” cohort from the European Huntington Disease Network (EHDN). In the entire REGISTRY cohort we could not confirm a modifying effect of the ATG7 V471A polymorphism. However, analysing a modifying effect of ATG7 in these REGISTRY patients and in patients of our previous HD cohort according to their ethnic origin, we identified a significant effect of the ATG7 V471A polymorphism on the HD age at onset only in the Italian population (327 patients). In these Italian patients, the polymorphism is associated with a 6-years earlier disease onset and thus seems to have an aggravating effect. We could specify the role of ATG7 as a genetic modifier for HD particularly in the Italian population. This result affirms the modifying influence of the autophagic pathway on the course of HD, but also suggests population-specific modifying mechanisms in HD pathogenesis

Problems and prospects of modernization of large industrial region of Russia (the case study of Perm krai)

Доклад посвящен исследованию проблем и перспектив социокультурной и экономической модернизации крупного промышленного региона России – Пермского края. Показано, что эффективность экономической модернизации напрямую связана с уровнем развития человеческого потенциала. На основе системы индикаторов модернизации, разработанных ЦИМ КАН, осуществлен анализ модернизационных изменений в Пермском крае. Выявлено, что регион находится в фазе расцвета первичной модернизации и соответствует подготовительному этапу перехода ко вторичной модернизации. Тормозят модернизационные преобразования в регионе слабая выраженность инноваций в знаниях и низкое качество экономики. В то же время имеются предпосылки для увеличения инновационной активности населения. Ее оценка дана на основе вторичного анализа данных социологических опросов, проводимых по программе «Социокультурная эволюция России и ее регионов». Осуществлена характеристика сценариев модернизации Пермского края с учетом трех типов прогноза социально-экономического развития региона до 2019 года – консервативного, базового и целевого, утвержденных губернатором Пермского края. Сделаны выводы о необходимости разработки региональной стратегии системной модернизации, включающей преобразования как в экономической, так и в социокультурной сфере.The report is devoted to the study of the problems and prospects of socio-cultural and economic modernization of large industrial region of Russia - Perm Krai. It shows that the effectiveness of economic modernization is directly related to the level of human development. Analysis of modernization changes in the Perm Krai was carried out on the basis of a system of modernization indicators developed by CIM KAN. It revealed that the region is in the prime of the prime modernization period and corresponds to the preparatory stage of the transition to secondary modernization. A low level of innovation in knowledge and a low quality of the economy hamper the modernization transformation in the region. At the same time, there are prerequisites for increasing the innovative activity of the population. Its evaluation is based on a secondary analysis of sociological surveys conducted under the program "Sociocultural Evolution of Russia and its Regions". Characteristic scenarios of Perm region modernization, taking into account the three types of forecasting socio-economic development of the region until 2019 - conservative, basic and target, approved by the governor of the Perm region, was implemented. Conclusions were drawn about the need to develop a regional strategy for systemic modernization, including transformations in both the economic and socio-cultural spheres.Статья подготовлена при поддержке РГНФ (проект № 16-16-59007)

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure

Clinical manifestations of intermediate allele carriers in Huntington disease

Objective: There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry. Methods: We assessed a cohort of participants at risk with <36 CAG repeats of the huntingtin (HTT) gene. Outcome measures were the Unified Huntington's Disease Rating Scale (UHDRS) motor, cognitive, and behavior domains, Total Functional Capacity (TFC), and quality of life (Short Form-36 [SF-36]). This cohort was subdivided into IA carriers (27-35 CAG) and controls (<27 CAG) and younger vs older participants. IA carriers and controls were compared for sociodemographic, environmental, and outcome measures. We used regression analysis to estimate the association of age and CAG repeats on the UHDRS scores. Results: Of 12,190 participants, 657 (5.38%) with <36 CAG repeats were identified: 76 IA carriers (11.56%) and 581 controls (88.44%). After correcting for multiple comparisons, at baseline, we found no significant differences between IA carriers and controls for total UHDRS motor, SF-36, behavioral, cognitive, or TFC scores. However, older participants with IAs had higher chorea scores compared to controls (p 0.001). Linear regression analysis showed that aging was the most contributing factor to increased UHDRS motor scores (p 0.002). On the other hand, 1-year follow-up data analysis showed IA carriers had greater cognitive decline compared to controls (p 0.002). Conclusions: Although aging worsened the UHDRS scores independently of the genetic status, IAs might confer a late-onset abnormal motor and cognitive phenotype. These results might have important implications for genetic counseling. ClinicalTrials.gov identifier: NCT01590589

β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease

none498siHuntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO), other genetic factors have also been shown to play a modulatory role. Recent evidence suggests that neuroinflammations is a pivotal factor in the pathogenesis of HD, and that targeting this process may have important therapeutic ramifications. The human β-defensin 2 (hBD2)- encoded by DEFB4- is an antimicrobial peptide that exhibits inducible expression in astrocytes during inflammation and is an important regulator of innate and adaptive immune response. Therefore, DEFB4 may contribute to the neuroinflammatory processes observed in HD.openVittori A, Orth M, Roos RA, Outeiro TF, Giorgini F, Hollox EJ, Bachoud-Levi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, Illmann T, Landwehrmeyer GB, Levey J, Martinez-Jaurrieta MD, Nielsen JE, Pro Koivisto S, Piiiviirinta M, Roos RA, Sebastian AR, Tabrizi SJ, Vandenberghe W, Verellen-Dumoulin C, Zaremba J, Uhrova T, Wahlstrom J, Barth K, Correia-Guedes L, Finisterra AM, Bascuiiana Garde M, Betz S, Bos R, Ecker D, Handley OJ, Held C, Koppers K, Laura M, Descals AM, Mestre T, Monza D, Townhill J, Padieu H, Paterski L, Peppa N, Rialland A, Røren N, Sasinkova P, Trigo Cubillo P, van Walsem M, Witjes-Ane MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Bonelli RM, Herranhof B, HOd A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinge K, Scheib M, Hecht K, Lilek S, Muller N, Schoggl H, Ullah J, Ribal P, Verellen-Dumoulin C, Klempff J, Majerova V, Roth J, Hjermind LE, Jakobsen O, Vinthev-Jensen T, Larsen IU, Nielsen JE, Stokholm J, Hiivola H, Martikainen K, Tuuha K, Santala M, Milkereit E, Kosinski CM, Probst D, Reetz K, Sass C, Schiefer J, Schlangen C, Werner CJ, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Lange H, Lohle M, Schmidt S, Storch A, Wolz A, Wolz M, Capetian P, Lambeck J, Zucker B, Boelmans K, Ganos C, Hidding U, Lewerenz J, Miinchau A, Orth M, Schmalfeld J, Stubbe L, Zittel S, Heinicke W, Ribbat M, Longinus B, Miihlau M, Peinemann A, Stiidtler M, Weindl A, Winkelmann J, Ziegler C, Bechtel N, Beckmann H, Bohlen S, Holzner E, Lange H, Reilmann R, Rohm S, Rumpf S, Schepers S, Dose M, Leythaeuser G, Marquard R, Raab T, Schrenk C, Schuierer M, Barth K, Buck A, Ecker D, Eschenbach C, Held C, Landwehrmeyer B, Lezius F, Nepper S, Niess A, Orth M, Schwenk D, Siissmuth S, Trautmann S, Weydt P, Cormio C, de Tommaso M, Sciruicchio V, Serpino C, Ghelli E, Ginestroni A, Bertini E, Massaro F, Mechi C, Paganini M, Piacentini S, Pradella S, Romoli AM, Sorbi S, Abbruzzese G, Ferrandes MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Monza D, Soliveri P, Tomasello C, De Michele G, DiMaio L, Massarelli M, Rinaldi C, Roca A, Rossi F, Russo CV, Salvatore E, Sorrentino P, Tucci T, De Nicola A, Elifani F, Petrollini M, Martino T, Lovo F, Squitieri F, Bentivoglio AR, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Piccininni C, Quaranta D, Romano S, Soleti F, Spadaro M, Zinzi P, van Hout MS, van Vugt JP, de Weert A, Bolwijn JJ, Neurologie P, Dekker M, Neurologie P, Leenders KL, van Oostrom JC, Bos R, Dumas EM, Jurgens CK, van den Bogaard SJ, Roos RA, 't Hart EP, Kremer B, Verstappen CC, Heiberg A, van Walsem MR, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Koivisto SP, Retterstøl L, Stokke B, Bjørnevoll I, Sando SB, Dziadkiewicz A, Nowak M, Robowski P, Sitek E, Slawek J, Soltan W, Szinwelski M, Blaszczyk M, Boczarska-Jedynak M, Ciach-Wysocka E, Gorzkowska A, Jasinska-Myga B, Opala G, Klodowska G, Stompel D, Ciach-Wysocka E, Banaszkiewicz K, Boewiriska D, Bojakowska-Jaremek K, Neurologii A, Dec M, Krawczyk M, Rudziriska M, Szczudlik A, Szczygiel E, Wasielewska A, Wojcik M, Wojcik M, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Samara H, Sempolowicz J, Zielonka D, Janik P, Kalbarczyk A, Kwiecinski H, Jamrozik Z, Antczak J, Jachinska K, Krysa W, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz-Jarosz H, Sulek A, Witkowski G, Zdzienicka E, Zaremba J, Zieora-Jakutowicz K, Coelho M, Correia-Guedes L, Ferreira JJ, Mestre T, Mendes T, Valadas A, Andrade C, Joao PS, Gago M, Garrett C, Joao PS, Guerra MR, Joao PS, Solis P, Herrera CD, Garcia PM, Cubo E, Mariscal N, Sanchez J, Barrero FJ, Alonso-Frech F, Perez MR, Fenollar M, Garda R, Rivera SV, Villanueva C, Alegre J, Bascuiiana M, Ventura MF, Ribas GG, Moreno JL, Cubillo PT, Rufz PJ, Frech FA, Dfaz J, Guerrero R, Dfaz J, Artiga MJ, Dfaz J, Sanchez V, Alcaraz LF, de Ia Arrixaca V, Manzanares S, de Ia Arrixaca V, Perea MF, Reinante G, Arrixaca Ia, Torres MM, Moreau LV, de Ia Arrixaca V, Barbera MA, Guia DB, Hernanz LC, Catena JL, Sebastian R, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Buongiorno MT, Munoz E, Elorza MD, Lopez CD, Terol DS, Robert MF, Rufz BG, Casado AG, Martinez IH, Viladrich CM, Pons R, Roca E, Llesoy JR, Idiago JM, Vergara MR, Garcia SS, Riballo AV, Hoglund A, Palhagen SE, Paucar M, Sandstrom B, Svenningsson P, Reza-Soltani TW, Burgunder JM, Kaelin A, Romero I, Schupbach M, Stebler Y, Zaugg SW, Akhtar S, Crooks J, Curtis A, de Souza J, Rickards H, Wright J, Barker RA, Di Pietro A, Fisher K, Goodman AO, Hill S, Kershaw A, Mason S, O'Keefe D, Swain R, Guzman NV, Busse M, Butcher C, Clenaghan C, Dunnett S, Fullam R, Jones L, Jones U, Khalil H, Minster S, Owen M, Hunt S, Price K, Rosser A, Townhill J, Edwards M, Ho C, McGill M, Pearson P, Porteous M, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Burrows L, Chu C, Fletcher A, Gallantrae D, Harding A, Hamer S, Kraus A, Laver F, Longthorpe M, Markova I, Raman A, Silva M, Thomson A, Wild S, Yardumian P, Hobson E, Jamieson S, Musgrave H, Rowett L, Toscano J, Wild S, Yardumian P, Clayton C, Dipple H, Middleton J, Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Andrews T, Bruno S, Doherty K, Lahiri N, Novak M, Patel A, Rosser E, Tabrizi S, Taylor R, Warner T, Wild E, Arran N, Bek J, Callaghan J, Craufurd D, Fullam R, Howard L, Hare M, Huson S, Johnson L, Jones M, Murphy H, Oughton E, Partington-Janes L, Rogers D, Snowden J, Sollom A, Stopford C, Thompson J, Trender-Gerhard I.Vittori, A; Orth, M; Roos, Ra; Outeiro, Tf; Giorgini, F; Hollox, Ej; Bachoud-Levi, Ac; Bentivoglio, Ar; Biunno, I; Bonelli, Rm; Burgunder, Jm; Dunnett, Sb; Ferreira, Jj; Handley, Oj; 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