Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report

For the rapid detection of common aneuploidies either PCR or Fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells are widely used. There are different commercial suppliers providing FISH assays for the detection of trisomies affecting the Down's syndrome critical regions (DSCR) in 21q22. We present a case in which rapid FISH screening with different commercial probes for the DSCR yielded conflicting results. Chromosome analysis revealed a deletion of one chromosome 21 in q22 which explained the findings. Prenatally an additional small supernumerary marker chromosome (sSMC) was discovered as well, which could not be characterised. Postnatal chromosome analysis in lymphocytes of the infant revealed complex mosaicism with four cell lines. By arrayCGH the sSMC was provisionally described as derivative chromosome 21 which was confirmed by targeted FISH experiments

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

Objective The Global FKRP Registry is a database for individuals with conditions caused by mutations in the Fukutin‐Related Protein (FKRP) gene: limb girdle muscular dystrophy R9 (LGMDR9, formerly LGMD2I) and congenital muscular dystrophies MDC1C, Muscle–Eye–Brain Disease and Walker–Warburg Syndrome. The registry seeks to further understand the natural history and prevalence of FKRP‐related conditions; aid the rapid identification of eligible patients for clinical studies; and provide a source of information to clinical and academic communities. Methods Registration is patient‐initiated through a secure online portal. Data, reported by both patients and their clinicians, include: age of onset, presenting symptoms, family history, motor function and muscle strength, respiratory and cardiac function, medication, quality of life and pain. Results Of 663 registered participants, 305 were genetically confirmed LGMDR9 patients from 23 countries. A majority of LGMDR9 patients carried the common mutation c.826C > A on one or both alleles; 67.9% were homozygous and 28.5% were compound heterozygous for this mutation. The mean ages of symptom onset and disease diagnosis were higher in individuals homozygous for c.826C > A compared with individuals heterozygous for c.826C > A. This divergence was replicated in ages of loss of running ability, wheelchair‐dependence and ventilation assistance; consistent with the milder phenotype associated with individuals homozygous for c.826C > A. In LGMDR9 patients, 75.1% were currently ambulant and 24.6%, nonambulant (unreported in 0.3%). Cardiac impairment was reported in 23.2% (30/129). Interpretation The Global FKRP Registry enables the collection of patient natural history data, which informs academics, healthcare professionals and industry. It represents a trial‐ready cohort of individuals and is centrally placed to facilitate recruitment to clinical studies.publishedVersio

Hospitalização e música: significados dos familiares de crianças e adolescentes com câncer

Objective: to understand the meanings of the hospitalization process and the use of music as a health promoter, in the perception of family members of children and adolescents undergoing cancer treatment. Method: exploratory, descriptive research, with a qualitative approach, based on the assumptions of Health Promotion and Symbolic Interactionism, which had ten family members as participants. Data collection took place through semi-structured interviews and were analyzed according to content analysis. Results: Three categories emerged, in which family members present the meanings of hospitalization and its changes, music as a health promotion instrument, their experiences of improvement and quality of life provided by this tool. Conclusion: family members understood the hospitalization process as a mixture of feelings and sensations, highlighting music as a care technology that promotes well-being, joy, hope and that can be used in the hospital environment, in the oncology sector.Objetivo: compreender os significados do processo de hospitalização e da utilização da música como promotora da saúde, na percepção de familiares de crianças e adolescentes que se encontram em tratamento oncológico.  Método: pesquisa do tipo exploratória, descritiva, de abordagem qualitativa, fundamentada nos pressupostos da Promoção da Saúde e do Interacionismo Simbólico, a qual teve como participantes dez familiares. A coleta de dados ocorreu por meio de entrevista semiestruturada e foram analisados conforme a análise de conteúdo. Resultados: emergiram três categorias, sendo que os familiares desvelaram os significados da hospitalização e suas mudanças, a música como instrumento de promoção da saúde, suas experiências de melhora e qualidade de vida proporcionada por essa ferramenta. Conclusão: os familiares significaram o processo de hospitalização como um misto de sentimentos e sensações, destacando a música como uma tecnologia de cuidado que promove bem-estar, alegria, esperança e que pode ser empregada no ambiente hospitalar, no setor oncológico

SÍNTESE DE NANOPARTÍCULAS METÁLICAS E ÓXIDOS METÁLICOS SUPORTADAS EM CARVÃO ATIVADO PARA REMOÇÃO DE ESCHERICHIA COLI DA ÁGUA

Materiais antibacterianos para aplicação na purificação de água foram produzidos a partir de carvão ativado suportados com nanopartículas (NPs) de prata (Ag) e cobre (Cu). Os materiais foram produzidos utilizando-se o método de impregnação a vácuo com soluções aquosas dos sais metálicos de nitrato de prata (AgNO3) e sulfato de cobre (CuSO4.5H2O) em diferentes concentrações, seguido da etapa de decomposição térmica para síntese das NPs de Ag e Cu no carvão ativado. A caracterização textural dos materiais foi realizada através de técnicas de medidas de área superficial específica BET, área de microporos (método t) e volume e diâmetro de poros (método HK); a caracterização estrutural foi realizada por análises de Difratometria de Raios-X (DRX) e a caracterização morfológica por Microscopia Eletrônica de Transmissão (MET). Os materiais produzidos em diferentes concentrações: C/Ag 0,3 % Cu 1,0 %, C/Ag 0,3 % e C/Cu 1,0 %, foram avaliados em relação à atividade antibacteriana contra as bactérias Escherichia coli em filtros de purificação de água, conforme estabelecido pela norma ABNT NBR 16098:2012, nas condições de 5 % e 95 % da vida útil do filtro. Os materiais modificados somente com NPs de Ag (C/Ag 0,3 %) e NPs de Cu (C/Cu 1,0 %) mostraram uma atividade antibacteriana inferior a 2 log de remoção de (1,36 log/1,07 log) e (1,31 log/0,94 log), respectivamente. Em contrapartida, o material produzido com a combinação de NPs de Ag e Cu (C/Ag 0,3 %Cu 1,0 %) mostrou uma elevada atividade antibacteriana (4,91 log/ 3,75 log), inibindo completamente o crescimento bacteriano e, por conseguinte, este pode ser considerado como potencial material antibacteriano na purificação da água.AbstractAntibacterial material for application in drinking water purification were produced from activated carbon supported with nanoparticles (NPs) of silver (Ag) and copper (Cu). The materials were produced using vacuum impregnation method with aqueous solutions of metallic salts of silver nitrate (AgNO3) and copper sulfate (CuSO4.5H2O) in different concentrations, followed by thermal decomposition step for synthesis of NPs (Ag) and NPs (Cu) on activated carbon. The textural characterization was carried out by measurements techniques of BET specific surface area, micropore area (t method) and pore volume and diameter (HK method); the structural characterization was performed by Diffraction X-Ray analysis (XRD) and morphological characterization by Transmission Electron Microscopy (TEM). The produced materials in different concentrations: C/Ag 0,3 % Cu 1,0 %, C/Ag 0,3 % and C/Cu 1,0 %, were evaluated for antibacterial activity against Escherichia coli in water purification filters according to standard ABNT NBR 16098:2012, under the conditions of 5 % and 95 % of the filter life. The modified materials with single NPs of Ag (C/Ag 0,3 %) and NPs of Cu (C/Cu 1,0 %) showed an antibacterial activity less than 2 log reduction (1.36 log / 1.07 log) and ( 1.31 log / log 0.94), respectively. However, the produced material with combination of NPs of Ag and Cu (C/Ag 0,3 % Cu 1,0 %) showed a high antibacterial activity (4.91 log / 3.75 log ) completely inhibiting the bacterial growth, and therefore, this can be considered as potential antibacterial material for water purification

Operational experience with the GEM detector assembly lines for the CMS forward muon upgrade

The CMS Collaboration has been developing large-area triple-gas electron multiplier (GEM) detectors to be installed in the muon Endcap regions of the CMS experiment in 2019 to maintain forward muon trigger and tracking performance at the High-Luminosity upgrade of the Large Hadron Collider (LHC); 10 preproduction detectors were built at CERN to commission the first assembly line and the quality controls (QCs). These were installed in the CMS detector in early 2017 and participated in the 2017 LHC run. The collaboration has prepared several additional assembly and QC lines for distributed mass production of 160 GEM detectors at various sites worldwide. In 2017, these additional production sites have optimized construction techniques and QC procedures and validated them against common specifications by constructing additional preproduction detectors. Using the specific experience from one production site as an example, we discuss how the QCs make use of independent hardware and trained personnel to ensure fast and reliable production. Preliminary results on the construction status of CMS GEM detectors are presented with details of the assembly sites involvement

DNA-Methylation Profiling of Fetal Tissues Reveals Marked Epigenetic Differences between Chorionic and Amniotic Samples

Epigenetic mechanisms including DNA methylation are supposed to play a key role in fetal development. Here we have investigated fetal DNA-methylation levels of 27,578 CpG loci in 47 chorionic villi (CVS) and 16 amniotic cell (AC) samples. Methylation levels differed significantly between karyotypically normal AC and CVS for 2,014 genes. AC showed more extreme DNA-methylation levels of these genes than CVS and the differentially methylated genes are significantly enriched for processes characteristic for the different cell types sampled. Furthermore, we identified 404 genes differentially methylated in CVS with trisomy 21. These genes were significantly enriched for high CG dinucleotid (CpG) content and developmental processes associated with Down syndrome. Our study points to major tissue-specific differences of fetal DNA-methylation and gives rise to the hypothesis that part of the Down syndrome phenotype is epigenetically programmed in the first trimester of pregnancy

Optimasi Portofolio Resiko Menggunakan Model Markowitz MVO Dikaitkan dengan Keterbatasan Manusia dalam Memprediksi Masa Depan dalam Perspektif Al-Qur`an

Risk portfolio on modern finance has become increasingly technical, requiring the use of sophisticated mathematical tools in both research and practice. Since companies cannot insure themselves completely against risk, as human incompetence in predicting the future precisely that written in Al-Quran surah Luqman verse 34, they have to manage it to yield an optimal portfolio. The objective here is to minimize the variance among all portfolios, or alternatively, to maximize expected return among all portfolios that has at least a certain expected return. Furthermore, this study focuses on optimizing risk portfolio so called Markowitz MVO (Mean-Variance Optimization). Some theoretical frameworks for analysis are arithmetic mean, geometric mean, variance, covariance, linear programming, and quadratic programming. Moreover, finding a minimum variance portfolio produces a convex quadratic programming, that is minimizing the objective function ðð¥with constraintsð ð 𥠥 ðandð´ð¥ = ð. The outcome of this research is the solution of optimal risk portofolio in some investments that could be finished smoothly using MATLAB R2007b software together with its graphic analysis

Penilaian Kinerja Keuangan Koperasi di Kabupaten Pelalawan

This paper describe development and financial performance of cooperative in District Pelalawan among 2007 - 2008. Studies on primary and secondary cooperative in 12 sub-districts. Method in this stady use performance measuring of productivity, efficiency, growth, liquidity, and solvability of cooperative. Productivity of cooperative in Pelalawan was highly but efficiency still low. Profit and income were highly, even liquidity of cooperative very high, and solvability was good