Monitoring of cfrp-strengthened reinforced concrete bridge spans in low temperature conditions

The article discusses strengthening bridges using composite materials at extreme low temperatures. Provides the results some experimental studies FRP strengthened concrete samples at low temperatures

Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism

Purpose.Albinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and examine the relationship between foveal cone specialization and pit morphology in patients with a clinical diagnosis of albinism. Methods. We recruited 32 subjects with a clinical diagnosis of albinism. DNA was obtained from 25 subjects, and known albinism genes were analyzed for mutations. Relative inner and outer segment (IS and OS) lengthening (fovea-to-perifovea ratio) was determined from manually segmented spectral domain-optical coherence tomography (SD-OCT) B-scans. Foveal pit morphology was quantified for eight subjects from macular SD-OCT volumes. Ten subjects underwent imaging with adaptive optics scanning light ophthalmoscopy (AOSLO), and cone density was measured. Results. We found mutations in 22 of 25 subjects, including five novel mutations. All subjects lacked complete excavation of inner retinal layers at the fovea, though four subjects had foveal pits with normal diameter and/or volume. Peak cone density and OS lengthening were variable and overlapped with that observed in normal controls. A fifth hyper-reflective band was observed in the outer retina on SD-OCT in the majority of the subjects with albinism. Conclusions. Foveal cone specialization and pit morphology vary greatly in albinism. Normal cone packing was observed in the absence of a foveal pit, suggesting a pit is not required for packing to occur. The degree to which retinal anatomy correlates with genotype or visual function remains unclear, and future examination of larger patient groups will provide important insight on this issue

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.

OBJECTIVE: Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 (ATXN-2) gene are a risk factor for amyotrophic lateral sclerosis (ALS). This work was undertaken with the aim to investigate the frequency of ataxin-1 (ATXN-1) and ATXN-2 PolyQ expansions in a cohort of patients with sporadic ALS (sALS) and patients with familial ALS (fALS) from southern Italy. METHODS: We assessed the PolyQ lengths of ATXN-1 and ATXN-2 in 405 patients with sALS, 13 patients with fALS, and 296 unrelated controls without history of neurodegenerative disorders. RESULTS: We found significantly higher intermediate PolyQ expansions ≥ 32 for ATXN-1 alleles and ≥ 28 for ATXN-2 alleles in the sALS cohort (ATXN-1: ALS, 7.07% vs controls, 2.38%; p = 0.0001; ATXN-2: ALS, 2.72% vs controls, 0.5%; p = 0.001). ATXN-1 CAT and ATXN-2 CAA interruptions were detected in patients with ALS only. Age at onset, site of onset, and sex were not significantly related to the ATXN-1 or ATXN-2 PolyQ repeat length expansions. CONCLUSIONS: Both ATXN-1 and ATXN-2 PolyQ intermediate expansions are independently associated with an increased risk for ALS

FUS MUTATIONS IN SPORADIC AMYOTROPHIC LATERAL SCLEROSIS: CLINICAL AND GENETIC ANALYSIS

Fused in sarcoma (FUS) or translocation in liposarcoma (TLS), a DNA/RNA-binding protein, causes a dominant autosomal inherited form of amyotrophic lateral sclerosis (ALS), ALS 6. Its main role in neurodegeneration is highlighted by the presence of cytoplasmic accumulation of its mutant protein form in ALS patients. To further define the frequency and spectrum of FUS gene mutations, we have performed a molecular screening of a cohort of 327 Italian patients from Southern Italy with sporadic ALS (SALS). We identified 4 patients carrying 3 different missense mutations and several polymorphisms. Two different substitutions occurring in the same amino acidic position have been observed in 2 patients: R521G and R521C respectively; P525L mutation has been found in 2 additional cases. Most of the patients with FUS mutations showed early symptom onset and had short disease survival. We also detected 4 different polymorphic variants (3=-untranslated region [UTR] variant, c.*41G.A; c.52313ins[GAGGTG]; c.335-15del[TTTT]; and rs13331793) in 9 patients from within our cohort. This study underlines the importance of population-based mutation screening of newly identified genes. \ua9 2011 Elsevier Inc. All rights reserved

Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498).

Congenital amegakaryocytic thrombocytopenia (CAMT, OMIM 604498) is an autosomal recessive disorder characterized by absent or reduced number of megakaryocytes in the bone marrow (BM) since birth, elevated serum levels of thrombopoietin (TPO), and very low platelet count. Prognosis of CAMT patient

Разработка и формализация корпоративной стратегии предприятия

Выпускная квалификационная работа содержит 110 стр., 19 таблиц, 15 рисунков, 30 использованных источников, 2 приложения. Ключевые слова: корпоративная стратегия, SWOT-анализ, матрица Маккински, матрица Томпсона и Стрикленда, модель Артур де Литтл, модель «5 сил Портера», ключевые показатели эффективности, система управления по показателям, корпоративная социальная ответственность. Объектом исследования является корпоративная стратегия ОАО «ТЭМЗ». Целью дипломной работы является рассмотрение проблем разработки и формализации корпоративной стратегии предприятия. В процессе исследования использованы законодательные и методические материалы, учебные пособия, публикации в специальных журналах, связанные с вопросами корпоративного управления. В результате исследования была осуществлена разработка и формализация корпоративной стратегии ОАО «ТЭМЗ». Основные конструктивные, технологические и технико-эксплуатационные характеристики: введение раскрывает актуальность, цель исследования, теоретическую и практическую значимость работы, обосновывается выбор объекта и предмета исследования. В первой главе раскрыты теоретические основы разработки корпоративной стратегии. Во второй главе дана краткая характеристика предприятия, проведен анализ системы корпоративного управления на предприятии ОАО «ТЭМЗ». В третьей главе рассмотрен процесс разработки и формализации стратегии управления для ОАО «ТЭМЗ». Заключение содержит анализ результатов теоретических и экспериментальных исследований работы. Степень внедрения: одна из предложенных в результате разработки и формализации корпоративных стратегий уже принята на ОАО «ТЭМЗ» и включена в соответствующие разделы инвестиционного бизнес-плана. Область применения: полученные результаты разработки и формализации корпоративной стратегии, эффективности социальной ответственности управления могут быть использованы в управленческой работе ОАО «ТЭМЗ»». Экономическая эффективность/значимость работы. Разработанные и формализованные корпоративные стратегии позволят ОАО «ТЭМЗ» повысить производительность труда, уменьшить текучесть кадрового потенциала и производственный травматизм.Final qualifying work contains 110 pages, 19 tables, 15 figures, 30 of the used sources, 2 appendices. Key words: corporate strategy, SWOT analysis, matrix o Machinski, matrix Thompson and Strickland model Arthur de little, model "5 forces of porter", key performance indicators, control system indicators, corporate social responsibility. The object of study is the corporate strategy of JSC "TEMZ". The aim of the thesis is to examine the problems of the development and formalization of corporate strategy. In the process of the study used legislative and methodical materials, textbooks, publications in professional journals related to issues of corporate governance. The study was carried out to develop and formalization of the corporate strategy of JSC "TEMZ". The basic constructive, technological and technical-operational characteristics: the introduction reveals the relevance, research objective, theoretical and practical significance of the research, justify the choice of object and subject of research. The first Chapter describes theoretical basis of development of corporate strategy. The second Chapter gives a brief description of the enterprise, the analysis of the system of corporate management of JSC "TEMZ". The third Chapter describes the development process and the formalization of the strategy management for JSC "TEMZ". The conclusion contains an analysis of the results of theoretical and experimental research work. Degree of implementation: one of the proposed in the development and formalization of corporate strategies already adopted at JSC "TEMZ" and included in relevant sections of the investment business plan. Application field: the results of the development and formalization of corporate strategy, efficiency, social responsibility management can be used in managerial work of JSC "TEMZ". Economic efficiency and significance of the work. Developed and formalized corporate strategy will allow JSC "TEMZ" to increase productivity, to decrease the fluidity of human resources and industrial injuries

Sporadic ALS is not associated with VAPB gene mutations in Southern Italy

Mutations in the Cu/Zn superoxide dismutase (Sod1) gene have been reported to cause adult-onset autosomal dominant Amyotrophic Lateral Sclerosis (FALS). In sporadic cases (SALS) de novo mutations in the Sod1 gene have occasionally been observed. The recent finding of a mutation in the VAMP/synaptobrevin-associated membrane protein B (VAPB) gene as the cause of amyotrophic lateral sclerosis (ALS8), prompted us to investigate the entire coding region of this gene in SALS patients. One hundred twenty-five unrelated patients with adult-onset ALS and 150 healthy sex-age-matched subjects with the same genetic background were analyzed. Genetic analysis for all exons of the VAPB gene by DHPLC revealed 5 variant profiles in 83 out of 125 SALS patients. Direct sequencing of these PCR products revealed 3 nucleotide substitutions. Two of these were found within intron 3 of the gene, harbouring 4 variant DHPLC profiles. The third nucleotide variation (Asp130Glu) was the only substitution present in the coding region of the VAPB gene, and it occurred within exon 4. It was found in three patients out of 125. The frequency of the detected exon variation in the VAPB gene was not significantly different between patients and controls. In conclusion, our study suggests that VAPB mutations are not a common cause of adult-onset SALS