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Sample records for sporadic als sals

  1. The evolving genetic risk for sporadic ALS.

    Science.gov (United States)

    Gibson, Summer B; Downie, Jonathan M; Tsetsou, Spyridoula; Feusier, Julie E; Figueroa, Karla P; Bromberg, Mark B; Jorde, Lynn B; Pulst, Stefan M

    2017-07-18

    To estimate the genetic risk conferred by known amyotrophic lateral sclerosis (ALS)-associated genes to the pathogenesis of sporadic ALS (SALS) using variant allele frequencies combined with predicted variant pathogenicity. Whole exome sequencing and repeat expansion PCR of C9orf72 and ATXN2 were performed on 87 patients of European ancestry with SALS seen at the University of Utah. DNA variants that change the protein coding sequence of 31 ALS-associated genes were annotated to determine which were rare and deleterious as predicted by MetaSVM. The percentage of patients with SALS with a rare and deleterious variant or repeat expansion in an ALS-associated gene was calculated. An odds ratio analysis was performed comparing the burden of ALS-associated genes in patients with SALS vs 324 normal controls. Nineteen rare nonsynonymous variants in an ALS-associated gene, 2 of which were found in 2 different individuals, were identified in 21 patients with SALS. Further, 5 deleterious C9orf72 and 2 ATXN2 repeat expansions were identified. A total of 17.2% of patients with SALS had a rare and deleterious variant or repeat expansion in an ALS-associated gene. The genetic burden of ALS-associated genes in patients with SALS as predicted by MetaSVM was significantly higher than in normal controls. Previous analyses have identified SALS-predisposing variants only in terms of their rarity in normal control populations. By incorporating variant pathogenicity as well as variant frequency, we demonstrated that the genetic risk contributed by these genes for SALS is substantially lower than previous estimates. © 2017 American Academy of Neurology.

  2. Screening of hypoxia-inducible genes in sporadic ALS.

    LENUS (Irish Health Repository)

    Cronin, Simon

    2008-10-01

    Genetic variations in two hypoxia-inducible angiogenic genes, VEGF and ANG, have been linked with sporadic amyotrophic lateral sclerosis (SALS). Common variations in these genes may reduce the levels or functioning of their products. VEGF and ANG belong to a larger group of angiogenic genes that are up-regulated under hypoxic conditions. We hypothesized that common genetic variation across other members of this group may also predispose to sporadic ALS. To screen other hypoxia-inducible angiogenic genes for association with SALS, we selected 112 tagging single nucleotide polymorphisms (tgSNPs) that captured the common genetic variation across 16 VEGF-like and eight ANG-like hypoxia-inducible genes. Screening for association was performed in 270 Irish individuals with typical SALS and 272 ethnically matched unrelated controls. SNPs showing association in the Irish phase were genotyped in a replication sample of 281 Swedish sporadic ALS patients and 286 Swedish controls. Seven markers showed association in the Irish. The one modest replication signal observed in the Swedish replication sample, at rs3801158 in the gene inhibin beta A, was for the opposite allele vs. the Irish cohort. We failed to detect association of common variation across 24 candidate hypoxia-inducible angiogenic genes with SALS.

  3. Clinical Perspective of Oxidative Stress in Sporadic ALS

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    D’Amico, Emanuele; Factor-Litvak, Pam; Santella, Regina M.; Mitsumoto, Hiroshi

    2013-01-01

    Sporadic amyotrophic lateral sclerosis (sALS) is one of the most devastating neurological diseases; most patients die within 3 to 4 years after symptom onset. Oxidative stress is a disturbance in the pro-oxidative/anti-oxidative balance favoring the pro-oxidative state. Autopsy and laboratory studies in ALS indicate that oxidative stress plays a major role in motor neuron degeneration and astrocyte dysfunction. Oxidative stress biomarkers in cerebrospinal fluid, plasma, and urine, are elevated, suggesting that abnormal oxidative stress is generated outside of the central nervous system. Our review indicates that agricultural chemicals, heavy metals, military service, professional sports, excessive physical exertion, chronic head trauma, and certain foods might be modestly associated with ALS risk, with a stronger association between risk and smoking. At the cellular level, these factors are all involved in generating oxidative stress. Experimental studies indicate that a combination of insults that induce modest oxidative stress can exert additive deleterious effects on motor neurons, suggesting multiple exposures in real-world environments are important. As the disease progresses, nutritional deficiency, cachexia, psychological stress, and impending respiratory failure may further increase oxidative stress. Moreover, accumulating evidence suggests that ALS is possibly a systemic disease. Laboratory, pathologic, and epidemiologic evidence clearly support the hypothesis that oxidative stress is central in the pathogenic process, particularly in genetically susceptive individuals. If we are to improve ALS treatment, well-designed biochemical and genetic epidemiological studies, combined with a multidisciplinary research approach, are needed and will provide knowledge crucial to our understanding of ALS etiology, pathophysiology, and prognosis. PMID:23797033

  4. A giant polyaluminum species S-Al32 and two aluminum polyoxocations involving coordination by sulfate ions S-Al32 and S-K-Al13.

    Science.gov (United States)

    Sun, Zhong; Wang, Hui; Tong, Honggeer; Sun, Shaofan

    2011-01-17

    The giant polyaluminum species [Al32O8(OH)60(H2O)28(SO4)2](16+) (S-Al32) and [Al13O4(OH)25(H2O)10(SO4)](4+) (S-K-Al13) [S means that sulfate ions take part in coordination of the aluminum polycation; K represents the Keggin structure] were obtained in the structures of [Al32O8(OH)60(H2O)28(SO4)2][SO4]7[Cl]2·30H2O and [Al13O4(OH)25(H2O)10(SO4)]4[SO4]8·20H2O, respectively. They are the first two aluminum polyoxocations coordinated by sulfate ions. The "core-shell" structure of S-Al32 is similar to that of Al30, but the units are linked by two [Al(OH)2(H2O)3(SO4)](-) groups with replacement of four η(1)-H2O molecules. The structure of S-K-Al13 is similar to the well-known structure of ε-K-Al13, but the units are linked by two (SO4(2-))0.5 with replacement of a H3O(+) ion. It was shown that strong interaction exists between the polyoxocations and counterions. On the basis of their structural features and preparation conditions, a formation and evolution mechanism (from ε-K-Al13 to S-K-Al13 and S-Al32) has been proposed. A local basification degree symmetrical equalization principle was extracted based on a comparison of the calculated results of the local basification degree for each central Al(3+) ion included in a polycation. They can be used to explain how the two aluminum species are formed and evolved and why the sulfate ions can coordinate to them and to predict where the OH-bridging positions will be upon further hydrolysis.

  5. An Experiment to Study Sporadic Atom Layers in the Earth's Mesosphere and Lower Thermosphere (SAL)

    Science.gov (United States)

    Kelley, Michael C.

    1999-01-01

    The Sudden Atom Layer (SAL) Rocket was successfully launched in February 1998. All instruments worked well except those supplied by NASA Goddard Space Flight Center. (A dummy weight was launched for the neutral mass spectrometer and the ion version died shortly after lift-off.) A paper has already been published in GRL concerning the dust layer detected by an on board instrument and compared to ground-based observations made at the Arecibo Observatory by Cornell graduate student S. Collins (lidar) and Q. Zhou (radar). Collins presented a comparison of the sodium lidar data and onboard observations with a theoretical model by Plane and Cox at the Fan AGU Meeting. In addition Gelinas and Kelley presented a review paper dealing with the entire SAL instrument complement at the same meeting. An unexpected new explanation for the outer scale of E region plasma irregularities has come out of the data set. We anticipate at least a total of four papers will be published within a year of launch.

  6. Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

    Science.gov (United States)

    Pang, Shirley Yin-Yu; Hsu, Jacob Shujui; Teo, Kay-Cheong; Li, Yan; Kung, Michelle H W; Cheah, Kathryn S E; Chan, Danny; Cheung, Kenneth M C; Li, Miaoxin; Sham, Pak-Chung; Ho, Shu-Leong

    2017-10-01

    Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing on 8 familial ALS (FALS) patients with superoxide dismutase 1 (SOD1) mutation and whole exome sequencing on 46 sporadic ALS (SALS) patients living in Hong Kong and found that 67% had at least 1 rare variant in the exons of 40 ALS genes; 22% had 2 or more. Patients with 2 or more rare variants had lower probability of survival than patients with 0 or 1 variant (p = 0.001). After adjusting for other factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p = 0.0098). The presence of the rare variant was associated with the risk of ALS (Odds ratio 1.91, 95% confidence interval 1.03-3.61, p = 0.03), and ALS patients had higher rare variant burden than controls (MB, p = 0.004). Our findings support an oligogenic basis with the burden of rare variants affecting the development and survival of ALS. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

  7. Genetics of Familial and Sporadic ALS

    Science.gov (United States)

    2018-03-27

    Amyotrophic Lateral Sclerosis (ALS); Familial Amyotrophic Lateral Sclerosis; Amyotrophic Lateral Sclerosis With Frontotemporal Dementia; Lou Gehrig's Disease; Motor Neuron Disease; Primary Lateral Sclerosis

  8. Jihâd dalam Pandangan Muhammad ‘Abd al-Salâm Faraj

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    Abdul Muis Naharong

    2014-01-01

    Full Text Available Jihâd is one of the Islamic teachings which has been extensively discussed since the last few decades due to the increasing acts of violence perpetrated by some Muslims. This article tries to join this discussion by presenting Muh ammad ‘Abd al-Salâm Faraj’s concept of jihâd and his ideas of Islamic state and Caliphate by referring to his al-Farîd ah al-Ghâ’ibah (the Neglected Duty. We argue that Faraj’s basic perception of the Egyptian politics and society at the time shaped his whole concept of state and Caliphate. We hence contend that his proposal of jihâd is born out of his disappointment of the Egyptian government and even society as far as applying Islamic law is concerned. He uncompromisingly believed that the government and society are hypocrite and apostate for distancing themselves from the divine law of God. This belief prompted four members of Jihâd Organization to which Faraj belongs, to assassinate President Sadat in October 1981. By jihad, Faraj means fighting and confrontation against enemies even through bloodshed. And by enemies he means anyone who is not willing to apply God’s law on earth. The most controversial idea that Faraj has tried to pose is that jihâd is considered to the sixth pillar of Islam, which has to be carried out by each and every member of Muslim ummah.

  9. CHCH10 mutations in an Italian cohort of familial and sporadic ALS patients

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    Chiò, Adriano; Mora, Gabriele; Sabatelli, Mario; Caponnetto, Claudia; Traynor, Bryan J.; Johnson, Janel O.; Nalls, Mike A.; Calvo, Andrea; Moglia, Cristina; Borghero, Giuseppe; Monsurrò, Maria Rosaria; La Bella, Vincenzo; Volanti, Paolo; Simone, Isabella; Salvi, Fabrizio; Logullo, Francesco O.; Nilo, Riva; Battistini, Stefania; Mandrioli, Jessica; Tanel, Raffaella; Murru, Maria Rita; Mandich, Paola; Zollino, Marcella; Conforti, Francesca L.; Brunetti, Maura; Barberis, Marco; Restagno, Gabriella; Penco, Silvana; Lunetta, Christian

    2015-01-01

    Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) co-morbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency and clinical characteristics of CHCHD10 mutations in Italian patients diagnosed with familial (n = 64) and apparently sporadic ALS (n = 224). Three apparently sporadic patients were found to carry c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of CHCHD10. This mutation had been previously described in two unrelated French patients with FTD-ALS. However, our patients had a typical ALS, without evidence of FTD, cerebellar or extrapyramidal signs, or sensorineural deficits. We confirm that CHCHD10 mutations account for ∼1% of Italian ALS patients and are a cause of disease in subject without dementia or other atypical clinical signs. PMID:25726362

  10. When does ALS start? ADAR2-GluA2 hypothesis for the etiology of sporadic ALS

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    Takuto eHideyama

    2011-11-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is the most common adult-onset motor neuron disease. More than 90% of ALS cases are sporadic, and the majority of sporadic ALS patients do not carry mutations in genes causative of familial ALS; therefore, investigation specifically targeting sporadic ALS is needed to discover the pathogenesis. The motor neurons of sporadic ALS patients express unedited GluA2 mRNA at the Q/R site in a disease-specific and motor neuron-selective manner. GluA2 is a subunit of the AMPA receptor, and it has a regulatory role in the Ca2+-permeability of the AMPA receptor after the genomic Q codon is replaced with the R codon in mRNA by adenosine-inosine conversion, which is mediated by adenosine deaminase acting on RNA 2 (ADAR2. Therefore, ADAR2 activity may not be sufficient to edit all GluA2 mRNA expressed in the motor neurons of ALS patients. To investigate whether deficient ADAR2 activity plays pathogenic roles in sporadic ALS, we generated genetically modified mice (AR2 in which the ADAR2 gene was conditionally knocked out in the motor neurons. AR2 mice showed an ALS-like phenotype with the death of ADAR2-lacking motor neurons. Notably, the motor neurons deficient in ADAR2 survived when they expressed only edited GluA2 in AR2/GluR-BR/R (AR2res mice, in which the endogenous GluA2 alleles were replaced by the GluR-BR allele that encoded edited GluA2. In heterozygous AR2 mice with only one ADAR2 allele, approximately 20% of the spinal motor neurons expressed unedited GluA2 and underwent degeneration, indicating that half-normal ADAR2 activity is not sufficient to edit all GluA2 expressed in motor neurons. It is likely therefore that the expression of unedited GluA2 causes the death of motor neurons in sporadic ALS. We hypothesize that a progressive downregulation of ADAR2 activity plays a critical role in the pathogenesis of sporadic ALS and that the pathological process commences when motor neurons express unedited GluA2.

  11. A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

    NARCIS (Netherlands)

    Wills, A-M.; Cronin, S.; Slowik, A.; Kasperaviciute, D.; Van Es, M. A.; Morahan, J. M.; Valdmanis, P. N.; Meininger, V.; Melki, J.; Shaw, C. E.; Rouleau, G. A.; Fisher, E. M. C.; Shaw, P. J.; Morrison, K. E.; Pamphlett, R.; Van den Berg, L. H.; Figlewicz, D. A.; Andersen, P. M.; Al-Chalabi, A.; Hardiman, O.; Purcell, S.; Landers, J. E.; Brown, R. H.

    2009-01-01

    Background: Six candidate gene studies report a genetic association of DNA variants within the paraoxonase locus with sporadic amyotrophic lateral sclerosis (ALS). However, several other large studies, including five genome-wide association studies, have not duplicated this finding. Methods: We

  12. Identification of epigenetically altered genes in sporadic amyotrophic lateral sclerosis.

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    Claudia Figueroa-Romero

    Full Text Available Amyotrophic lateral sclerosis (ALS is a terminal disease involving the progressive degeneration of motor neurons within the motor cortex, brainstem and spinal cord. Most cases are sporadic (sALS with unknown causes suggesting that the etiology of sALS may not be limited to the genotype of patients, but may be influenced by exposure to environmental factors. Alterations in epigenetic modifications are likely to play a role in disease onset and progression in ALS, as aberrant epigenetic patterns may be acquired throughout life. The aim of this study was to identify epigenetic marks associated with sALS. We hypothesize that epigenetic modifications may alter the expression of pathogenesis-related genes leading to the onset and progression of sALS. Using ELISA assays, we observed alterations in global methylation (5 mC and hydroxymethylation (5 HmC in postmortem sALS spinal cord but not in whole blood. Loci-specific differentially methylated and expressed genes in sALS spinal cord were identified by genome-wide 5mC and expression profiling using high-throughput microarrays. Concordant direction, hyper- or hypo-5mC with parallel changes in gene expression (under- or over-expression, was observed in 112 genes highly associated with biological functions related to immune and inflammation response. Furthermore, literature-based analysis identified potential associations among the epigenes. Integration of methylomics and transcriptomics data successfully revealed methylation changes in sALS spinal cord. This study represents an initial identification of epigenetic regulatory mechanisms in sALS which may improve our understanding of sALS pathogenesis for the identification of biomarkers and new therapeutic targets.

  13. Spread Direction and Prognostic Factors in Limb-Onset Sporadic Amyotrophic Lateral Sclerosis.

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    Hu, Fangfang; Jin, Jiaoting; Jia, Rui; Xiang, Li; Qi, Huaguang; Chen, Xin; Dang, Jingxia

    2016-01-01

    To investigate the spread direction and prognostic factors in limb-onset sporadic amyotrophic lateral sclerosis (sALS). Medical records of 128 patients with sALS were reviewed. Variables studied were age at symptom onset, gender, region and lateralization of onset, onset to diagnosis interval (ODI), progression direction, bulbar-involved, time from onset to bulbar-involved, ALSFRS-r, upper motor neuron (UMN) signs and progression rate. First, the horizontal and vertical directions are major spreading directions in limb-onset sALS. Second, in crossed and interposed groups, while ODI is shorter, the progression rate is faster and UMN signs are more pronounced (p spread directions in limb-onset sALS. Except for ALSFRS-r and ODI, bulbar-involved is an adverse factor for ALS progression, and progression rate is related to the time from onset symptoms to bulbar-involved. © 2016 S. Karger AG, Basel.

  14. Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

    Science.gov (United States)

    Diekstra, Frank P; Saris, Christiaan G J; van Rheenen, Wouter; Franke, Lude; Jansen, Ritsert C; van Es, Michael A; van Vught, Paul W J; Blauw, Hylke M; Groen, Ewout J N; Horvath, Steve; Estrada, Karol; Rivadeneira, Fernando; Hofman, Albert; Uitterlinden, Andre G; Robberecht, Wim; Andersen, Peter M; Melki, Judith; Meininger, Vincent; Hardiman, Orla; Landers, John E; Brown, Robert H; Shatunov, Aleksey; Shaw, Christopher E; Leigh, P Nigel; Al-Chalabi, Ammar; Ophoff, Roel A; van den Berg, Leonard H; Veldink, Jan H

    2012-01-01

    Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease characterized by loss of upper and lower motor neurons. ALS is considered to be a complex trait and genome-wide association studies (GWAS) have implicated a few susceptibility loci. However, many more causal loci remain to be discovered. Since it has been shown that genetic variants associated with complex traits are more likely to be eQTLs than frequency-matched variants from GWAS platforms, we conducted a two-stage genome-wide screening for eQTLs associated with ALS. In addition, we applied an eQTL analysis to finemap association loci. Expression profiles using peripheral blood of 323 sporadic ALS patients and 413 controls were mapped to genome-wide genotyping data. Subsequently, data from a two-stage GWAS (3,568 patients and 10,163 controls) were used to prioritize eQTLs identified in the first stage (162 ALS, 207 controls). These prioritized eQTLs were carried forward to the second sample with both gene-expression and genotyping data (161 ALS, 206 controls). Replicated eQTL SNPs were then tested for association in the second-stage GWAS data to find SNPs associated with disease, that survived correction for multiple testing. We thus identified twelve cis eQTLs with nominally significant associations in the second-stage GWAS data. Eight SNP-transcript pairs of highest significance (lowest p = 1.27 × 10(-51)) withstood multiple-testing correction in the second stage and modulated CYP27A1 gene expression. Additionally, we show that C9orf72 appears to be the only gene in the 9p21.2 locus that is regulated in cis, showing the potential of this approach in identifying causative genes in association loci in ALS. This study has identified candidate genes for sporadic ALS, most notably CYP27A1. Mutations in CYP27A1 are causal to cerebrotendinous xanthomatosis which can present as a clinical mimic of ALS with progressive upper motor neuron loss, making it a plausible susceptibility gene for

  15. Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

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    Frank P Diekstra

    Full Text Available Amyotrophic lateral sclerosis (ALS is a progressive, neurodegenerative disease characterized by loss of upper and lower motor neurons. ALS is considered to be a complex trait and genome-wide association studies (GWAS have implicated a few susceptibility loci. However, many more causal loci remain to be discovered. Since it has been shown that genetic variants associated with complex traits are more likely to be eQTLs than frequency-matched variants from GWAS platforms, we conducted a two-stage genome-wide screening for eQTLs associated with ALS. In addition, we applied an eQTL analysis to finemap association loci. Expression profiles using peripheral blood of 323 sporadic ALS patients and 413 controls were mapped to genome-wide genotyping data. Subsequently, data from a two-stage GWAS (3,568 patients and 10,163 controls were used to prioritize eQTLs identified in the first stage (162 ALS, 207 controls. These prioritized eQTLs were carried forward to the second sample with both gene-expression and genotyping data (161 ALS, 206 controls. Replicated eQTL SNPs were then tested for association in the second-stage GWAS data to find SNPs associated with disease, that survived correction for multiple testing. We thus identified twelve cis eQTLs with nominally significant associations in the second-stage GWAS data. Eight SNP-transcript pairs of highest significance (lowest p = 1.27 × 10(-51 withstood multiple-testing correction in the second stage and modulated CYP27A1 gene expression. Additionally, we show that C9orf72 appears to be the only gene in the 9p21.2 locus that is regulated in cis, showing the potential of this approach in identifying causative genes in association loci in ALS. This study has identified candidate genes for sporadic ALS, most notably CYP27A1. Mutations in CYP27A1 are causal to cerebrotendinous xanthomatosis which can present as a clinical mimic of ALS with progressive upper motor neuron loss, making it a plausible

  16. Pré-sal e Petrobras além dos discursos e mitos: disputas, riscos e desafios

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    ILDO L. SAUER

    pré-sal, a partir da simulação da produção nos campos. São calculadas as receitas que podem ser esperadas pelos diferentes stakeholders (empresas e poder público sob distintos cenários de preços do barril de petróleo, de investimentos e de regimes regulatórios. Com relação aos regimes regulatórios, as receitas são simuladas tanto para aqueles vigentes hoje no país (concessões, partilha de produção, cessão onerosa e cessão onerosa com partilha de produção para volumes excedentes, como para outras formas regulatórias, como o regime de serviços. Um dos principais resultados é uma análise dos break-even prices (preços de equilíbrio para cada um dos campos e em cada regime regulatório, indicando, sob a ótica do empreendedor, o valor mínimo do barril de petróleo que torna a produção no campo viável. Também, são apresentadas todas as receitas governamentais que podem ser esperadas, além de uma estimativa de recursos que devem ir para as áreas da saúde e da educação em decorrência da cobrança de royalties. De modo geral, tem-se que o regime de partilha de produção não foi o que demonstrou trazer mais receitas ao poder público, considerando as premissas com as quais foi simulado, ou seja, com base nas regras e dinâmica de definição da participação da União no óleo produzido conforme o resultado do leilão para o campo de Libra. Isso parece contraditório, já que o regime de partilha de produção foi instaurado no país em 2010 em um contexto de debate nacional acerca das possibilidades de aumentar a parcela governamental sobre a produção em áreas do pré-sal. O regime que mostrou trazer maior receita ao poder público é o regime de serviços, pelo qual a União é investidora e detentora das reservas e dos resultados da produção. Por isso, medidas que aproximem o regime de partilha de produção vigente hoje às regras do regime de serviços concebido, considerando as possibilidades existentes na legisla

  17. Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.

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    Mitropoulos, Konstantinos; Merkouri Papadima, Eleni; Xiromerisiou, Georgia; Balasopoulou, Angeliki; Charalampidou, Kyriaki; Galani, Vasiliki; Zafeiri, Krystallia-Vassiliki; Dardiotis, Efthymios; Ralli, Styliani; Deretzi, Georgia; John, Anne; Kydonopoulou, Kyriaki; Papadopoulou, Elpida; di Pardo, Alba; Akcimen, Fulya; Loizedda, Annalisa; Dobričić, Valerija; Novaković, Ivana; Kostić, Vladimir S; Mizzi, Clint; Peters, Brock A; Basak, Nazli; Orrù, Sandro; Kiskinis, Evangelos; Cooper, David N; Gerou, Spyridon; Drmanac, Radoje; Bartsakoulia, Marina; Tsermpini, Evangelia-Eirini; Hadjigeorgiou, Georgios M; Ali, Bassam R; Katsila, Theodora; Patrinos, George P

    2017-12-08

    Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted a next-generation sequencing approach to Greek patients suffering from sporadic ALS (together with their healthy counterparts) in order to explore further the genetic basis of sporadic ALS (sALS). Whole-genome sequencing analysis of Greek sALS patients revealed a positive association between FTO and TBC1D1 gene variants and sALS. Further, linkage disequilibrium analyses were suggestive of a specific disease-associated haplotype for FTO gene variants. Genotyping for these variants was performed in Greek, Sardinian, and Turkish sALS patients. A lack of association between FTO and TBC1D1 variants and sALS in patients of Sardinian and Turkish descent may suggest a founder effect in the Greek population. FTO was found to be highly expressed in motor neurons, while in silico analyses predicted an impact on FTO and TBC1D1 mRNA splicing for the genomic variants in question. To our knowledge, this is the first study to present a possible association between FTO gene variants and the genetic etiology of sALS. In addition, the next-generation sequencing-based genomics approach coupled with the two-step validation strategy described herein has the potential to be applied to other types of human complex genetic disorders in order to identify variants of clinical significance.

  18. S-15: Belirli Açısal Hızlardaki İzokinetik Kuvvet Eğitimin Diğer Açısal Hızlardaki Kas Kuvveti Üzerine Etkisinin İncelenmesi: Pilot Çalışma

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    Tuğba Kocahan

    2017-03-01

    Full Text Available GİRİŞ: İzokinetik egzersizler, kas kuvvetini arttıran en iyi egzersizlerdir. Literatürde değişik açısal hızlarda yapılan kuvvetlendirme çalışmaları mevcuttur. Ancak genellikle eğitim verilen açısal hızlar test protokolünde de kullanılmaktadır. Bu durum kas kuvvetinin eğitildiği açısal hızda kuvvetlendiği biligisini vermekle birlikte kasın diğer açısal hızlardaki kuvveti hakkında yeterli bilgi vermemektedir.AMAÇ: Bu nedenle çalışmamız sağlıklı sedanter bireylerde belirli açısal hızlarda verilen izokinetik eğitimin sadece eğitiminin yapıldığı açısal hızlarda mı yoksa test edilen diğer açısal hızlarda da etkili olup olmadığını belirlemektir.GEREÇ-YÖNTEM: Çalışma, ortalama yaşları 27,11±3,48 olan 9 sağlıklı birey (3 erkek ve 6 kadın olmak üzere toplam 18 alt ekstremitenin izokinetik kuvvet ölçümü ve eğitimi ile gerçekleştirildi.Kişilerin demografik verileri Tablo 1’de gösterildi. Haftada 2 gün toplam 6 hafta izokinetik eğitim verilen bireyler çalışmanın başında ve sonunda değerlendirildi. Değerlendirme protokolü 60°/sn açısal hızda 1 set 5 tekrar, 120°/sn açısal hızda 1 set 10 tekrar, 180°/sn açısal hızda 1 set 10 tekrar, 240°/sn açısal hızda 1 set 15 tekrar, 300°/sn açısal hızda 1 set 15 tekrar olacak şekilde ayarlandı. İzokinetik eğitim protokolü ise 60°/sn açısal hızda 3 set 10 tekrar ve 180°/sn açısal hızda 3 set 15 tekrar konsantrik-konsantrik olacak şekilde uygulandı. BULGULAR: Eğitim öncesi ve eğitim sonrası ortalama peak tork değerlerinin 60°/sn,120°/sn ve 180°/sn açısal hızlarda anlamlı ölçüde arttığı(p0,05 (Tablo 2. SONUÇ: Çalışmamız sonunda 60°/sn ve 180°/sn açısal hızlardaki diz fleksiyon ve ekstansiyon peak tork değerlerindeki anlamlı artışın sebebinin bu açısal hızlarda verilen izokinetik eğitimi olduğunu düşünmekteyiz. Buna ek olarak 120°/sn açısal h

  19. Outcome of sporadic amyotrophic lateral sclerosis treated With non-invasive ventilation and riluzole Sobrevida en pacientes con esclerosis lateral amiotrófica esporádica tratados con ventilación no invasiva y riluzole

    OpenAIRE

    Martín Sívori; Gabriel E. Rodríguez; Daniel Pascansky; César Séenz; Roberto E. P. Sica

    2007-01-01

    Sporadic amyotrophic lateral sclerosis (sALS) is a progressive degenerative motor neuron disorder lacking specific treatment. Riluzole is the only drug able to modestly slow down the course of the disease. Respiratory insufficiency is the main cause of death; non invasive ventilation (NIV) has shown to improve survival. Our aim was to evaluate the effect of NIV and riluzole on survival. Ninety seven patients with a diagnosis of sALS were assessed and followed up for 60 months. Twenty nine pat...

  20. Gene ontology analysis of pairwise genetic associations in two genome-wide studies of sporadic ALS

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    Kim Nora

    2012-07-01

    analysis of pairwise genetic associations in two GWAS of sporadic ALS revealed a set of genes involved in cellular component organization and actin cytoskeleton, more specifically, that were not reported by prior GWAS. However, prior biological studies have implicated actin cytoskeleton in ALS and other motor neuron diseases. This study supports the idea that pathway-level analysis of GWAS data may discover important associations not revealed using conventional one-SNP-at-a-time approaches.

  1. Gene expression profiling for human iPS-derived motor neurons from sporadic ALS patients reveals a strong association between mitochondrial functions and neurodegeneration

    Science.gov (United States)

    Alves, Chrystian J.; Dariolli, Rafael; Jorge, Frederico M.; Monteiro, Matheus R.; Maximino, Jessica R.; Martins, Roberto S.; Strauss, Bryan E.; Krieger, José E.; Callegaro, Dagoberto; Chadi, Gerson

    2015-01-01

    Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease that leads to widespread motor neuron death, general palsy and respiratory failure. The most prevalent sporadic ALS form is not genetically inherited. Attempts to translate therapeutic strategies have failed because the described mechanisms of disease are based on animal models carrying specific gene mutations and thus do not address sporadic ALS. In order to achieve a better approach to study the human disease, human induced pluripotent stem cell (hiPSC)-differentiated motor neurons were obtained from motor nerve fibroblasts of sporadic ALS and non-ALS subjects using the STEMCCA Cre-Excisable Constitutive Polycistronic Lentivirus system and submitted to microarray analyses using a whole human genome platform. DAVID analyses of differentially expressed genes identified molecular function and biological process-related genes through Gene Ontology. REVIGO highlighted the related functions mRNA and DNA binding, GTP binding, transcription (co)-repressor activity, lipoprotein receptor binding, synapse organization, intracellular transport, mitotic cell cycle and cell death. KEGG showed pathways associated with Parkinson's disease and oxidative phosphorylation, highlighting iron homeostasis, neurotrophic functions, endosomal trafficking and ERK signaling. The analysis of most dysregulated genes and those representative of the majority of categorized genes indicates a strong association between mitochondrial function and cellular processes possibly related to motor neuron degeneration. In conclusion, iPSC-derived motor neurons from motor nerve fibroblasts of sporadic ALS patients may recapitulate key mechanisms of neurodegeneration and may offer an opportunity for translational investigation of sporadic ALS. Large gene profiling of differentiated motor neurons from sporadic ALS patients highlights mitochondrial participation in the establishment of autonomous mechanisms associated with sporadic ALS

  2. Evaluating the levels of interleukin-1 family cytokines in sporadic amyotrophic lateral sclerosis

    Science.gov (United States)

    2014-01-01

    Background Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease leading to the death of affected individuals within years. The involvement of inflammation in the pathogenesis of neurodegenerative diseases, including ALS, is increasingly recognized but still not well understood. The aim of this study is to evaluate the levels of inflammation-related IL-1 family cytokines (IL-1β, IL-18, IL-33, IL-37) and their endogenous inhibitors (IL-1Ra, sIL-1R2, IL-18BP, sIL-1R4) in patients with sporadic ALS (sALS), Methods Sera were collected from 144 patients (125 patients were characterized by disease form, duration, and disability, using the revised ALS functional rating scale (ALSFRS-R) and from 40 matched controls. Cerebrospinal fluid (CSF) was collected from 54 patients with sALS and 65 patients with other non-infectious non-oncogenic diseases as controls. Cytokines and inhibitors were measured by commercial ELISA. Results Among the IL-1 family cytokines tested total IL-18, its endogenous inhibitor IL-18BP, and the active form of the cytokine (free IL-18) were significantly higher in the sALS sera than in controls. No correlation between these soluble mediators and different clinical forms of sALS or the clinical setting of the disease was found. IL-18BP was the only mediator detectable in the CSF of patients. Conclusions Among the IL-1 family cytokines, only IL-18 correlates with this disease and may therefore have a pathological role in sALS. The increase of total IL-18 suggests the activation of IL-18-cleaving inflammasome. Whether IL-18 upregulation in circulation of sALS patients is a consequence of inflammation or one of the causes of the pathology still needs to be addressed. PMID:24884937

  3. Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS

    NARCIS (Netherlands)

    F.P. Diekstra (Frank); C.G.J. Saris (Christiaan); W. van Rheenen (Wouter); L. Franke (Lude); R.C. Jansen (Ritsert); M.A. van Es (Michael); K. Estrada Gil (Karol); P.W.J. van Vught (Paul); H.M. Blauw (Hylke); E.J.N. Groen (Ewout); S. Horvath (Steve); K. Estrada Gil (Karol); F. Rivadeneira Ramirez (Fernando); A. Hofman (Albert); A.G. Uitterlinden (André); W. Robberecht (Wim); P.M. Andersen (Peter); J. Melki (Judith); V. Meininger (Vincent); O. Hardiman (Orla); J.E. Landers (John); R.H. Brown (Robert); A. Shatunov (Aleksey); C.E. Shaw (Christopher); P.N. Leigh (Nigel); A. Al-Chalabi (Ammar); R.A. Ophoff (Roel); L.H. van den Berg (Leonard); J.H. Veldink (Jan)

    2012-01-01

    textabstractAmyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease characterized by loss of upper and lower motor neurons. ALS is considered to be a complex trait and genome-wide association studies (GWAS) have implicated a few susceptibility loci. However, many more causal

  4. Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS

    NARCIS (Netherlands)

    Diekstra, Frank P.; Saris, Christiaan G. J.; van Rheenen, Wouter; Franke, Lude; Jansen, Ritsert C.; van Es, Michael A.; van Vught, Paul W. J.; Blauw, Hylke M.; Groen, Ewout J. N.; Horvath, Steve; Estrada, Karol; Rivadeneira, Fernando; Hofman, Albert; Uitterlinden, Andre G.; Robberecht, Wim; Andersen, Peter M.; Melki, Judith; Meininger, Vincent; Hardiman, Orla; Landers, John E.; Brown, Robert H.; Shatunov, Aleksey; Shaw, Christopher E.; Leigh, P. Nigel; Al-Chalabi, Ammar; Ophoff, Roel A.; van den Berg, Leonard H.; Veldink, Jan H.; Brown Jr., Robert H.; Brug, Marcel P. van der

    2012-01-01

    Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease characterized by loss of upper and lower motor neurons. ALS is considered to be a complex trait and genome-wide association studies (GWAS) have implicated a few susceptibility loci. However, many more causal loci remain

  5. Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients.

    Science.gov (United States)

    Türk, Matthias; Schröder, Rolf; Khuller, Katharina; Hofmann, Andreas; Berwanger, Carolin; Ludolph, Albert C; Dekomien, Gabriele; Müller, Kathrin; Weishaupt, Jochen H; Thiel, Christian T; Clemen, Christoph S

    2017-08-01

    Mutations of the human valosin-containing protein, p97 (VCP) and Wiskott-Aldrich syndrome protein and SCAR homolog (WASH) complex genes cause motor neuron and cognitive impairment disorders. Here, we analyzed a cohort of German patients with sporadic amyotrophic lateral sclerosis and frontotemporal lobar degeneration comorbidity (ALS/FTD) for VCP and WASH complex gene mutations. Next-generation panel sequencing of VCP, WASH1, FAM21C, CCDC53, SWIP, strumpellin, F-actin capping protein of muscle Z-line alfa 1 (CAPZA1), and CAPZB genes was performed in 43 sporadic ALS/FTD patients. Subsequent analyses included Sanger sequencing, in silico analyses, real-time PCR, and CCDC53 immunoblotting. We identified 1 patient with the heterozygous variant c.26C>T in CAPZA1, predicted to result in p.Ser9Leu, and a second with the heterozygous start codon variant c.2T>C in CCDC53. In silico analysis predicted structural changes in the N-terminus of CAPZα1, which may interfere with CAPZα:CAPZβ dimerization. Though the translation initiation codon of CCDC53 is mutated, real-time PCR and immunoblotting did neither reveal any evidence for a CCDC53 haploinsufficiency nor for aberrant CCDC53 protein species. Moreover, a disease-causing C9orf72 repeat expansion mutation was later on identified in this patient. Thus, with the exception of a putatively pathogenic heterozygous c.26C>T CAPZA1 variant, our genetic analysis did not reveal mutations in VCP and the remaining WASH complex subunits. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Pemikiran Teologi Ash‘Arîyah Dalam Irshâd Al-‘Aql Al-Salîm Ilâ Mazâyâ Al-Kitâb Al-Karîm Karya Abû Al-Su‘ud

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    Husni Mubarok

    2016-09-01

    Full Text Available This article explores theological thought of al-Ash‘arî in Abû al-Su‘ûd’s work Irshâd al-‘Aql al-Salîm ilâ Mazâyâ al-Kitâb al-Karîm. The study finds an interesting fact that when interpreting the Quranic verses on theological matters, Abû al-Su‘ûd tended to affiliate to Ash‘arîyah. However, Abû al-Su‘ûd firmly stated that he referred most to al-Kashshâf of al-Zamakhsharî in his exegetical works. It has been widely known that al-Zamakhsharî was one of prominent proponents of Mu‘tazilah. The article emphasizes a number of theological issues discussed by Abû al-Su‘ûd in his tafsîr such as God’s free will, anthropomorphism, and God’s justice. There have been three steps to analyze theological thoughts of Ash‘arîyah mentioned in Abû al-Su‘ûd’s work, are: firstly, grouping the most Quranic verses on theological realm referred by mutakallimîn. Secondly, explaining the views of each school (madhhab of Islamic theology. Thirdly, discussing the assessments and interpretation of Abû al-Su‘ûd on theological verses and comparing them to al-Zamakhsharî’s interpretation. Based on these three steps the author will analyze the Ash‘arîyah theological pattern adhered by Abû al-Su‘ûd.

  7. Multifactor dimensionality reduction for graphics processing units enables genome-wide testing of epistasis in sporadic ALS

    Science.gov (United States)

    Greene, Casey S.; Sinnott-Armstrong, Nicholas A.; Himmelstein, Daniel S.; Park, Paul J.; Moore, Jason H.; Harris, Brent T.

    2010-01-01

    Motivation: Epistasis, the presence of gene–gene interactions, has been hypothesized to be at the root of many common human diseases, but current genome-wide association studies largely ignore its role. Multifactor dimensionality reduction (MDR) is a powerful model-free method for detecting epistatic relationships between genes, but computational costs have made its application to genome-wide data difficult. Graphics processing units (GPUs), the hardware responsible for rendering computer games, are powerful parallel processors. Using GPUs to run MDR on a genome-wide dataset allows for statistically rigorous testing of epistasis. Results: The implementation of MDR for GPUs (MDRGPU) includes core features of the widely used Java software package, MDR. This GPU implementation allows for large-scale analysis of epistasis at a dramatically lower cost than the standard CPU-based implementations. As a proof-of-concept, we applied this software to a genome-wide study of sporadic amyotrophic lateral sclerosis (ALS). We discovered a statistically significant two-SNP classifier and subsequently replicated the significance of these two SNPs in an independent study of ALS. MDRGPU makes the large-scale analysis of epistasis tractable and opens the door to statistically rigorous testing of interactions in genome-wide datasets. Availability: MDRGPU is open source and available free of charge from http://www.sourceforge.net/projects/mdr. Contact: jason.h.moore@dartmouth.edu Supplementary information: Supplementary data are available at Bioinformatics online. PMID:20081222

  8. Multifactor dimensionality reduction for graphics processing units enables genome-wide testing of epistasis in sporadic ALS.

    Science.gov (United States)

    Greene, Casey S; Sinnott-Armstrong, Nicholas A; Himmelstein, Daniel S; Park, Paul J; Moore, Jason H; Harris, Brent T

    2010-03-01

    Epistasis, the presence of gene-gene interactions, has been hypothesized to be at the root of many common human diseases, but current genome-wide association studies largely ignore its role. Multifactor dimensionality reduction (MDR) is a powerful model-free method for detecting epistatic relationships between genes, but computational costs have made its application to genome-wide data difficult. Graphics processing units (GPUs), the hardware responsible for rendering computer games, are powerful parallel processors. Using GPUs to run MDR on a genome-wide dataset allows for statistically rigorous testing of epistasis. The implementation of MDR for GPUs (MDRGPU) includes core features of the widely used Java software package, MDR. This GPU implementation allows for large-scale analysis of epistasis at a dramatically lower cost than the standard CPU-based implementations. As a proof-of-concept, we applied this software to a genome-wide study of sporadic amyotrophic lateral sclerosis (ALS). We discovered a statistically significant two-SNP classifier and subsequently replicated the significance of these two SNPs in an independent study of ALS. MDRGPU makes the large-scale analysis of epistasis tractable and opens the door to statistically rigorous testing of interactions in genome-wide datasets. MDRGPU is open source and available free of charge from http://www.sourceforge.net/projects/mdr.

  9. Evaluación del desarrollo de Salíx humboldtiana, Erythrina edulis y Trichantera gigantea asociados al cultivo de mora sin espina (Rubus glaucus Benth)

    OpenAIRE

    Guapacha, Cristiam Camilo; Mesa, Jhon Jairo; Patiño, Andrés Alfonso

    2015-01-01

    En el Municipio de Quinchía, Departamento de Risaralda (Colombia), se evaluó el desarrollo de los tutores vivos Salíx humboldtiana, Erythrina edulis y Trichantera gigantea asociados al cultivo de mora sin espina (Rubus glaucus Benth), también la incidencia de Peronospora sparsa y Oidium sp en plantas de mora asociadas a estos sistemas agroforestales. Se utilizo un diseño de bloques al azar con tres repeticiones cada uno. Los resultados indican que Erythrina edulis es el tutor con mejor adapta...

  10. Inflammatory Gene Expression in Whole Peripheral Blood at Early Stages of Sporadic Amyotrophic Lateral Sclerosis

    Directory of Open Access Journals (Sweden)

    Pol Andrés-Benito

    2017-10-01

    Full Text Available ObjectiveCharacterization of altered expression of selected transcripts linked to inflammation in the peripheral blood of sporadic amyotrophic lateral sclerosis (sALS patients at early stage of disease to increase knowledge about peripheral inflammatory response in sALS.MethodsRNA expression levels of 45 genes were assessed by RT-qPCR in 22 sALS cases in parallel with 13 age-matched controls. Clinical and serum parameters were assessed at the same time.ResultsUpregulation of genes coding for factors involved in leukocyte extravasation (ITGB2, INPP5D, SELL, and ICAM1 and extracellular matrix remodeling (MMP9 and TIMP2, as well as downregulation of certain chemokines (CCL5 and CXC5R, anti-inflammatory cytokines (IL10, TGFB2, and IL10RA, pro-inflammatory cytokines (IL-6, and T-cell regulators (CD2 and TRBC1 was found in sALS cases independently of gender, clinical symptoms at onset (spinal, respiratory, or bulbar, progression, peripheral leukocyte number, and integrity of RNA. MMP9 levels positively correlated with age, whereas CCR5, CCL5, and TRBC1 negatively correlated with age in sALS but not in controls. Relatively higher TNFA expression levels correlate with higher creatinine kinase protein levels in plasma.ConclusionPresent findings show early inflammatory responses characterized by upregulation of factors enabling extravasation of leukocytes and extracellular matrix remodeling in blood in sALS cases, in addition to increased TNFA levels paralleling skeletal muscle damage.

  11. Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients.

    Science.gov (United States)

    Vrabec, Katarina; Boštjančič, Emanuela; Koritnik, Blaž; Leonardis, Lea; Dolenc Grošelj, Leja; Zidar, Janez; Rogelj, Boris; Glavač, Damjan; Ravnik-Glavač, Metka

    2018-01-01

    Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS) through mutations in several genes. However, the cause of a majority of sporadic cases remains unknown. Recently, epigenetics, especially miRNA studies, show some promising aspects. We aimed to evaluate the differential expression of 10 miRNAs, including miR-9, miR-338, miR-638, miR-663a, miR-124a, miR-143, miR-451a, miR-132, miR-206, and let-7b, for which some connection to ALS was shown previously in ALS culture cells, animal models or patients, and in three miRNA host genes, including C1orf61 (miR-9), AATK (miR-338), and DNM2 (miR-638), in leukocyte samples of 84 patients with sporadic ALS. We observed significant aberrant dysregulation across our patient cohort for miR-124a, miR-206, miR-9, let-7b, and miR-638. Since we did not use neurological controls we cannot rule out that the revealed differences in expression of investigated miRNAs are specific for ALS. Nevertheless, the group of these five miRNAs is worth of additional research in leukocytes of larger cohorts from different populations in order to verify their potential association to ALS disease. We also detected a significant up-regulation of the AAKT gene and down-regulation of the DNM2 gene, and thus, for the first time, we connected these with sporadic ALS cases. These findings open up new research toward miRNAs as diagnostic biomarkers and epigenetic processes involved in ALS. The detected significant deregulation of AAKT and DNM2 in sporadic ALS also represents an interesting finding. The DNM2 gene was previously found to be mutated in Charcot-Marie-Tooth neuropathy-type CMT2M and centronuclear myopathy (CNM). In addition, as recent studies connected AATK and frontotemporal dementia (FTD) and DNM2 and hereditary spastic paraplegia (HSP), these two genes together with our results genetically connect, at least in part, five diseases, including FTD, HSP, Charcot-Marie-Tooth (type CMT2M), CNM, and ALS

  12. Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing.

    Science.gov (United States)

    Wagner, Karin N; Nagaraja, Haikady N; Allain, Dawn C; Quick, Adam; Kolb, Stephen J; Roggenbuck, Jennifer

    2017-12-20

    Amyotrophic lateral sclerosis (ALS) is increasingly recognized as a genetic disease. There is no consensus, however, as to the role of genetic testing in the care of the ALS patient. We conducted a survey to study patient access, attitudes, and experience with ALS genetic testing among patients enrolled in a US ALS registry. Among 449 survey respondents, 156 (34.7%) were offered testing and 105 of 156 (67.3%) completed testing. The majority of respondents with familial ALS (fALS) (31/45, 68.9%) were offered testing, while a minority of respondents with sporadic ALS (sALS) (111/404, 27.5%) were offered testing (p = .00001). Comparison of mean test experience scores between groups revealed that respondents with fALS were no more likely to report a favorable experience with genetic testing than those with sALS (p = .51). Respondents who saw a genetic counselor did not have significantly different test experience scores, compared to those who did not (p = .14). In addition, no differences in test experience scores were observed between those who received positive or negative genetic test results (p = .98). These data indicate that patients with ALS found value in clinical genetic testing. © 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

  13. Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

    Science.gov (United States)

    Sangare, Modibo; Dicko, Ilo; Guinto, Cheick Oumar; Sissoko, Adama; Dembele, Kekouta; Coulibaly, Youlouza; Coulibaly, Siaka Y; Landoure, Guida; Diallo, Abdallah; Dolo, Mamadou; Dolo, Housseini; Maiga, Boubacar; Traore, Moussa; Karembe, Mamadou; Traore, Kadiatou; Toure, Amadou; Sylla, Mariam; Togora, Arouna; Coulibaly, Souleymane; Traore, Sékou Fantamady; Hendrickson, Brant; Bricceno, Katherine; Schindler, Alice B; Kokkinis, Angela; Meilleur, Katherine G; Sangho, Hammadoun Ali; Diakite, Brehima; Kassogue, Yaya; Coulibaly, Yaya Ibrahim; Burnett, Barrington; Maiga, Youssoufa; Doumbia, Seydou; Fischbeck, Kenneth H

    2016-06-01

    Spinal muscular atrophy (SMA) and sporadic amyotrophic lateral sclerosis (SALS) are both motor neuron disorders. SMA results from the deletion of the survival motor neuron ( SMN ) 1 gene. High or low SMN1 copy number and the absence of SMN2 have been reported as risk factors for the development or severity of SALS. To investigate the role of SMN gene copy number in the onset and severity of SALS in Malians. We determined the SMN1 and SMN2 copy number in genomic DNA samples from 391 Malian adult volunteers, 120 Yoruba from Nigeria, 120 Luyha from Kenya and 74 U.S. Caucasians using a Taqman quantitative PCR assay. We evaluated the SALS risk based on the estimated SMA protein level using the Veldink formula ( SMN1 copy number + 0.2 ∗  SMN2 copy number). We also characterized the disease natural history in 15 ALS patients at the teaching hospital of Point G, Bamako, Mali. We found that 131 of 391 (33.5%) had an estimated SMN protein expression of ≤ 2.2; 60 out of 391 (15.3%) had an estimated SMN protein expression < 2 and would be at risk of ALS and the disease onset was as early as 16 years old. All 15 patients were male and some were physically handicapped within 1-2 years in the disease course. Because of the short survival time of our patients, family histories and sample DNA for testing were not done. However, our results show that sporadic ALS is of earlier onset and shorter survival time as compared to patients elsewhere. We plan to establish a network of neurologists and researchers for early screening of ALS.

  14. Salões de maio

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    Paulo Monteiro

    2008-12-01

    Full Text Available O texto traz uma visão geral sobre a documentação pertencente ao Arquivo Quirino da Silva, guardado no Centro Cultural São Paulo, principalmente sobre a parte que se refere aos "Salões de Maio", destacando fontes primárias e secundárias que poderão servir a futuras pesquisas na área de história da arte brasileira.

  15. Blood-CNS Barrier Impairment in ALS Patients versus an Animal Model

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    Svitlana eGarbuzova-Davis

    2014-02-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is a severe neurodegenerative disease with a compli-cated and poorly understood pathogenesis. Recently, alterations in the blood-Central Nervous System barrier (B-CNS-B have been recognized as a key factor possibly aggravating motor neuron damage. The majority of findings on ALS microvascular pathology have been deter-mined in mutant SOD1 rodent models, identifying barrier damage during disease develop-ment which might similarly occur in familial ALS patients carrying the SOD1 mutation. However, our knowledge of B-CNS-B competence in sporadic ALS (SALS has been limited. We recently showed structural and functional impairment in postmortem gray and white mat-ter microvessels of medulla and spinal cord tissue from SALS patients, suggesting pervasive barrier damage. Although numerous signs of barrier impairment (endothelial cell degenera-tion, capillary leakage, perivascular edema, downregulation of tight junction proteins, and microhemorrhages are indicated in both mutant SOD1 animal models of ALS and SALS pa-tients, other pathogenic barrier alterations have as yet only been identified in SALS patients. Pericyte degeneration, perivascular collagen IV expansion, and white matter capillary abnor-malities in SALS patients are significant barrier related pathologies yet to be noted in ALS SOD1 animal models. In the current review, these important differences in blood-CNS barrier damage between ALS patients and animal models, which may signify altered barrier transport mechanisms, are discussed. Understanding discrepancies in barrier condition between ALS patients and animal models may be crucial for developing effective therapies.

  16. Neuroinflammation and ALS: Transcriptomic Insights into Molecular Disease Mechanisms and Therapeutic Targets

    Directory of Open Access Journals (Sweden)

    Giovanna Morello

    2017-01-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is a neurodegenerative disease affecting the motor nervous system. Despite the mechanism underlying motor neuron death is not yet clarified, multiple pathogenic processes have been proposed to account for ALS. Among these, inflammatory/immune responses have recently gained particular interest, although there are conflicting reports on the role of these processes in ALS pathogenesis and treatment. This apparent discrepancy may be due to the absence of an effective stratification of ALS patients into subgroups with markedly different clinical, biological, and molecular features. Our research group recently described genome-wide characterization of motor cortex samples from sporadic ALS (SALS patients, revealing the existence of molecular and functional heterogeneity in SALS. Here, we reexamine data coming from our previous work, focusing on transcriptomic changes of inflammatory-related genes, in order to investigate their potential contribution in ALS. A total of 1573 inflammatory genes were identified as differentially expressed between SALS patients and controls, characterizing distinct topological pathways and networks, suggestive of specific inflammatory molecular signatures for different patient subgroups. Besides providing promising insights into the intricate relationship between inflammation and ALS, this paper represents a starting point for the rationale design and development of novel and more effective diagnostic and therapeutic applications.

  17. Introduction to Sporadic Groups

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    Luis J. Boya

    2011-01-01

    Full Text Available This is an introduction to finite simple groups, in particular sporadic groups, intended for physicists. After a short review of group theory, we enumerate the 1+1+16=18 families of finite simple groups, as an introduction to the sporadic groups. These are described next, in three levels of increasing complexity, plus the six isolated ''pariah'' groups. The (old five Mathieu groups make up the first, smallest order level. The seven groups related to the Leech lattice, including the three Conway groups, constitute the second level. The third and highest level contains the Monster group M, plus seven other related groups. Next a brief mention is made of the remaining six pariah groups, thus completing the 5+7+8+6=26 sporadic groups. The review ends up with a brief discussion of a few of physical applications of finite groups in physics, including a couple of recent examples which use sporadic groups.

  18. The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients

    International Nuclear Information System (INIS)

    Cistaro, Angelina; Fania, Piercarlo; Pagani, Marco; Montuschi, Anna; Moglia, Cristina; Canosa, Antonio; Calvo, Andrea; Lopiano, Leonardo; Restagno, Gabriella; Brunetti, Maura; Traynor, Bryan J.; Nobili, Flavio; Carrara, Giovanna; Valentini, M.C.; Chio, Adriano

    2014-01-01

    Recently, a GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene, located on chromosome 9p21 has been demonstrated to be the commonest cause of familial amyotrophic lateral sclerosis (ALS) and to account for 5 to 10 % of apparently sporadic ALS. Relatively little is known about the brain metabolism profile of patients carrying the expansion. Our aim was to identify the [ 18 F]FDG PET profile in ALS patients with the C9ORF72 expansion (C9ORF72-ALS). Fifteen C9ORF72-ALS patients were compared with 12 patients with ALS and comorbid frontotemporal dementia (FTD) without the C9ORF72 expansion (ALS-FTD) and 30 cognitively normal patients with ALS without mutations of ALS-related genes (sALS). The three groups were then cross-matched to 40 neurologically normal controls. All patients underwent FDG PET within 4 months of diagnosis. The C9ORF72-ALS patients compared with the sALS patients showed significant hypometabolism in the anterior and posterior cingulate cortex, insula, caudate and thalamus, the left frontal and superior temporal cortex, and hypermetabolism in the midbrain, bilateral occipital cortex, globus pallidus and left inferior temporal cortex. The ALS-FTD patients compared with the sALS patients showed more limited hypometabolic areas, including the orbitofrontal, prefrontal, anterior cingulate and insular cortex, and hypermetabolic areas, including the bilateral occipital cortex, the left precentral and postcentral cortex and superior temporal gyrus. The C9ORF72-ALS patients compared with the ALS-FTD patients showed hypometabolism in the left temporal cortex. ALS patients with the C9ORF72 hexanucleotide repeat expansion had a more widespread central nervous system involvement than ALS patients without genetic mutations, with or without comorbid FTD, consistent with their more severe clinical picture. (orig.)

  19. The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients

    Energy Technology Data Exchange (ETDEWEB)

    Cistaro, Angelina; Fania, Piercarlo [Positron Emission Tomography Center IRMET S.p.A, Torino (Italy); Pagani, Marco [Institute of Cognitive Sciences and Technologies, Consiglio Nazionale delle Ricerche (CNR), Rome (Italy); Karolinska Hospital, Department of Nuclear Medicine, Stockholm (Sweden); Montuschi, Anna; Moglia, Cristina; Canosa, Antonio [University of Torino, ' Rita Levi Montalcini' Department of Neuroscience, Torino (Italy); Calvo, Andrea; Lopiano, Leonardo [University of Torino, ' Rita Levi Montalcini' Department of Neuroscience, Torino (Italy); Neuroscience Institute of Turin, Turin (Italy); Restagno, Gabriella; Brunetti, Maura [Azienda Ospedaliera Citta della Salute e della Scienza, Molecular Genetics Unit, Department of Clinical Pathology, Torino (Italy); Traynor, Bryan J. [National Institute on Ageing, National Institutes of Health, Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, Bethesda, MD (United States); Nobili, Flavio [University of Genova, Clinical Neurophysiology Unit, Department of Neurosciences, Ophthalmology and Genetics, Genova (Italy); Carrara, Giovanna; Valentini, M.C. [Azienda Ospedaliera Citta della Salute e della Scienza, Department of Neuroradiology, Torino (Italy); Chio, Adriano [University of Torino, ' Rita Levi Montalcini' Department of Neuroscience, Torino (Italy); Neuroscience Institute of Turin, Turin (Italy); ALS Center, ' Rita Levi Montalcini' Department of Neuroscience, Torino (Italy)

    2014-05-15

    Recently, a GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene, located on chromosome 9p21 has been demonstrated to be the commonest cause of familial amyotrophic lateral sclerosis (ALS) and to account for 5 to 10 % of apparently sporadic ALS. Relatively little is known about the brain metabolism profile of patients carrying the expansion. Our aim was to identify the [{sup 18}F]FDG PET profile in ALS patients with the C9ORF72 expansion (C9ORF72-ALS). Fifteen C9ORF72-ALS patients were compared with 12 patients with ALS and comorbid frontotemporal dementia (FTD) without the C9ORF72 expansion (ALS-FTD) and 30 cognitively normal patients with ALS without mutations of ALS-related genes (sALS). The three groups were then cross-matched to 40 neurologically normal controls. All patients underwent FDG PET within 4 months of diagnosis. The C9ORF72-ALS patients compared with the sALS patients showed significant hypometabolism in the anterior and posterior cingulate cortex, insula, caudate and thalamus, the left frontal and superior temporal cortex, and hypermetabolism in the midbrain, bilateral occipital cortex, globus pallidus and left inferior temporal cortex. The ALS-FTD patients compared with the sALS patients showed more limited hypometabolic areas, including the orbitofrontal, prefrontal, anterior cingulate and insular cortex, and hypermetabolic areas, including the bilateral occipital cortex, the left precentral and postcentral cortex and superior temporal gyrus. The C9ORF72-ALS patients compared with the ALS-FTD patients showed hypometabolism in the left temporal cortex. ALS patients with the C9ORF72 hexanucleotide repeat expansion had a more widespread central nervous system involvement than ALS patients without genetic mutations, with or without comorbid FTD, consistent with their more severe clinical picture. (orig.)

  20. A differential autophagy-dependent response to DNA double-strand breaks in bone marrow mesenchymal stem cells from sporadic ALS patients.

    Science.gov (United States)

    Wald-Altman, Shane; Pichinuk, Edward; Kakhlon, Or; Weil, Miguel

    2017-05-01

    Amyotrophic lateral sclerosis (ALS) is an incurable motor neurodegenerative disease caused by a diversity of genetic and environmental factors that leads to neuromuscular degeneration and has pathophysiological implications in non-neural systems. Our previous work showed abnormal levels of mRNA expression for biomarker genes in non-neuronal cell samples from ALS patients. The same genes proved to be differentially expressed in the brain, spinal cord and muscle of the SOD1 G93A ALS mouse model. These observations support the idea that there is a pathophysiological relevance for the ALS biomarkers discovered in human mesenchymal stem cells (hMSCs) isolated from bone marrow samples of ALS patients (ALS-hMSCs). Here, we demonstrate that ALS-hMSCs are also a useful patient-based model to study intrinsic cell molecular mechanisms of the disease. We investigated the ALS-hMSC response to oxidative DNA damage exerted by neocarzinostatin (NCS)-induced DNA double-strand breaks (DSBs). We found that the ALS-hMSCs responded to this stress differently from cells taken from healthy controls (HC-hMSCs). Interestingly, we found that ALS-hMSC death in response to induction of DSBs was dependent on autophagy, which was initialized by an increase of phosphorylated (p)AMPK, and blocked by the class III phosphoinositide 3-kinase (PI3K) and autophagy inhibitor 3-methyladenine (3MeA). ALS-hMSC death in response to DSBs was not apoptotic as it was caspase independent. This unique ALS-hMSC-specific response to DNA damage emphasizes the possibility that an intrinsic abnormal regulatory mechanism controlling autophagy initiation exists in ALS-patient-derived hMSCs. This mechanism may also be relevant to the most-affected tissues in ALS. Hence, our approach might open avenues for new personalized therapies for ALS. © 2017. Published by The Company of Biologists Ltd.

  1. La sal en el queso: diversas interacciones.

    OpenAIRE

    Juan Sabastián Ramírez-Navas; Jessica Aguirre-Londoño; Víctor Alexander Aristizabal-Ferreira; Sandra Castro-Narváez

    2016-01-01

    El objetivo de este trabajo fue analizar el efecto de la sal sobre algunas propiedades físicas del queso, su interacción con los componentes del queso, y el efecto del contenido de sodio sobre la salud de los consumidores. La sal es un ingrediente importante, ya que determina en gran parte la calidad del producto y la aceptación del consumidor. El salado del queso tiene in uencia en la calidad debido a sus efectos sobre la composición, el crecimiento microbiano y la actividad enzimática. Ejer...

  2. The LO-BaFL method and ALS microarray expression analysis

    Directory of Open Access Journals (Sweden)

    Baciu Cristina

    2012-09-01

    Full Text Available Abstract Background Sporadic Amyotrophic Lateral Sclerosis (sALS is a devastating, complex disease of unknown etiology. We studied this disease with microarray technology to capture as much biological complexity as possible. The Affymetrix-focused BaFL pipeline takes into account problems with probes that arise from physical and biological properties, so we adapted it to handle the long-oligonucleotide probes on our arrays (hence LO-BaFL. The revised method was tested against a validated array experiment and then used in a meta-analysis of peripheral white blood cells from healthy control samples in two experiments. We predicted differentially expressed (DE genes in our sALS data, combining the results obtained using the TM4 suite of tools with those from the LO-BaFL method. Those predictions were tested using qRT-PCR assays. Results LO-BaFL filtering and DE testing accurately predicted previously validated DE genes in a published experiment on coronary artery disease (CAD. Filtering healthy control data from the sALS and CAD studies with LO-BaFL resulted in highly correlated expression levels across many genes. After bioinformatics analysis, twelve genes from the sALS DE gene list were selected for independent testing using qRT-PCR assays. High-quality RNA from six healthy Control and six sALS samples yielded the predicted differential expression for 7 genes: TARDBP, SKIV2L2, C12orf35, DYNLT1, ACTG1, B2M, and ILKAP. Four of the seven have been previously described in sALS studies, while ACTG1, B2M and ILKAP appear in the context of this disease for the first time. Supplementary material can be accessed at: http://webpages.uncc.edu/~cbaciu/LO-BaFL/supplementary_data.html. Conclusion LO-BaFL predicts DE results that are broadly similar to those of other methods. The small healthy control cohort in the sALS study is a reasonable foundation for predicting DE genes. Modifying the BaFL pipeline allowed us to remove noise and systematic errors

  3. La sal en el queso: diversas interacciones.

    Directory of Open Access Journals (Sweden)

    Juan Sabastián Ramírez-Navas

    2016-12-01

    Full Text Available El objetivo de este trabajo fue analizar el efecto de la sal sobre algunas propiedades físicas del queso, su interacción con los componentes del queso, y el efecto del contenido de sodio sobre la salud de los consumidores. La sal es un ingrediente importante, ya que determina en gran parte la calidad del producto y la aceptación del consumidor. El salado del queso tiene in uencia en la calidad debido a sus efectos sobre la composición, el crecimiento microbiano y la actividad enzimática. Ejerce una in uencia signi cativa sobre la reología y textura, así como en la maduración, principalmente a través de sus efectos sobre la actividad del agua. Los niveles de sal en queso van desde aproximadamente 0,6% p/p hasta aproximadamente 7% p/p. Debido a que el consumo de queso está aumentando en todo el mundo, se debe dar importancia a la reducción de la sal sin afectar su consumo. Entre las estrategias que se han planteado con tal n está la sustitución parcial de la sal por otros compuestos. Pero el inconveniente de la sustitución del NaCl es su efecto sobre las propiedades sensoriales, la composición química, la proteólisis y la textura del queso. Otra interesante alternativa para el reemplazo del NaCl, es el uso de la tecnología de membranas para obtener permeado rico en sales provenientes del lactosuero; la adición de estas sales en la elaboración quesera, produce quesos bajos en sodio, con buena textura.

  4. Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

    DEFF Research Database (Denmark)

    Tümer, Zeynep; Bertelsen, Birgitte; Gredal, Ole

    2012-01-01

    Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. About 10% of ALS cases are familial (FALS) and the genetic defect is known only in approximately 20%-30% of these cases. The most common genetic cause of ALS is SOD1 (superoxide dismutase 1) mutation. Very recently......, mutations of the optineurin gene (OPTN), which is involved in open-angle glaucoma, were identified in 3 Japanese patients/families with ALS, and subsequently in a few FALS patients of European descent. We found a heterozygous nonsense mutation (c.493C>T, p.Gln165X, exon 6) in the OPTN gene in a Danish...... patient with ALS, and the mutation segregated from his affected father. The p.Gln165X mutation could not be detected in 1070 healthy Danish controls, in 1000 Danish individuals with metabolic phenotypes or in 64 sporadic ALS (SALS) cases. The p.Gln165X mutation described in this study is the first...

  5. Protection against tauopathy by the drug candidates NAP (davunetide) and D-SAL: biochemical, cellular and behavioral aspects.

    Science.gov (United States)

    Shiryaev, Natalia; Pikman, Regina; Giladi, Eliezer; Gozes, Illana

    2011-01-01

    Activity-dependent neuroprotective protein (ADNP) is essential for brain formation and partial deficiency in ADNP results in cognitive deficits coupled with tauopathy and neuronal cell death. Our previous results indicated that a peptide snippet from ADNP, NAPVSIPQ (NAP, generic name, davunetide) can restore in part ADNP deficiencies. NAP interacts with tubulin and this interaction is displaced by the NAP related peptide that is derived from activity-dependent neurotrophic factor (ADNF), SALLRSIPA (SAL) and its all D-amino acid peptide derivative (D-SAL, also known as AL-309). Both NAP and D-SAL were shown to protect neurons against amyloid beta toxicity however the mechanism of protection is still under investigation. In addition, NAP protects against tau hyperphosphorylation associated with ADNP deficiency, in vivo. To investigate whether the mechanism of in vitro neuroprotection relates to the in vivo protection against tauopathy and to draw potential additional parallelism between NAP and D-SAL, we asked if: 1]NAP and D-SAL protect against amyloid beta related tau hyperphosphorylation in vitro; and 2] D-SAL protects against haploinsufficiency in ADNP, inhibiting tauopathy in vivo. Assessment of NAP and D-SAL neuroprotection in primary cortical neuro-glial cultures treated with amyloid beta showed that both peptides reduced toxin-related neuronal damage and protected against tau hyperphosphorylation. In vivo, chronic D-SAL administration protected against tau hyperphosphorylation associated with ADNP deficiency (ADNP+/- mice), showing for the first time protection against deficits in odor discrimination and in social recognition. These studies associate neuroprotection in vivo and in vitro and provide a broad base for future drug development based on NAP and D-SAL against multiple neurodegenerative conditions.

  6. Modeling and Analysis of Asynchronous Systems Using SAL and Hybrid SAL

    Science.gov (United States)

    Tiwari, Ashish; Dutertre, Bruno

    2013-01-01

    We present formal models and results of formal analysis of two different asynchronous systems. We first examine a mid-value select module that merges the signals coming from three different sensors that are each asynchronously sampling the same input signal. We then consider the phase locking protocol proposed by Daly, Hopkins, and McKenna. This protocol is designed to keep a set of non-faulty (asynchronous) clocks phase locked even in the presence of Byzantine-faulty clocks on the network. All models and verifications have been developed using the SAL model checking tools and the Hybrid SAL abstractor.

  7. Microarray analysis of peripheral blood lymphocytes from ALS patients and the SAFE detection of the KEGG ALS pathway

    Science.gov (United States)

    2011-01-01

    Background Sporadic amyotrophic lateral sclerosis (sALS) is a motor neuron disease with poorly understood etiology. Results of gene expression profiling studies of whole blood from ALS patients have not been validated and are difficult to relate to ALS pathogenesis because gene expression profiles depend on the relative abundance of the different cell types present in whole blood. We conducted microarray analyses using Agilent Human Whole Genome 4 × 44k Arrays on a more homogeneous cell population, namely purified peripheral blood lymphocytes (PBLs), from ALS patients and healthy controls to identify molecular signatures possibly relevant to ALS pathogenesis. Methods Differentially expressed genes were determined by LIMMA (Linear Models for MicroArray) and SAM (Significance Analysis of Microarrays) analyses. The SAFE (Significance Analysis of Function and Expression) procedure was used to identify molecular pathway perturbations. Proteasome inhibition assays were conducted on cultured peripheral blood mononuclear cells (PBMCs) from ALS patients to confirm alteration of the Ubiquitin/Proteasome System (UPS). Results For the first time, using SAFE in a global gene ontology analysis (gene set size 5-100), we show significant perturbation of the KEGG (Kyoto Encyclopedia of Genes and Genomes) ALS pathway of motor neuron degeneration in PBLs from ALS patients. This was the only KEGG disease pathway significantly upregulated among 25, and contributing genes, including SOD1, represented 54% of the encoded proteins or protein complexes of the KEGG ALS pathway. Further SAFE analysis, including gene set sizes >100, showed that only neurodegenerative diseases (4 out of 34 disease pathways) including ALS were significantly upregulated. Changes in UBR2 expression correlated inversely with time since onset of disease and directly with ALSFRS-R, implying that UBR2 was increased early in the course of ALS. Cultured PBMCs from ALS patients accumulated more ubiquitinated proteins

  8. Conocimientos, actitudes y aceptación de la sal fluorada en una población peruana

    OpenAIRE

    Picasso Pozo, Miguel Ángel; Huillca Castillo, Nancy; Gallardo Schultz, Adriana; Ávalos Márquez, Juan Carlos; Pita Nakamoto, Kathy

    2014-01-01

    Objetivo. Determinar los conocimientos, actitudes y aceptación de la sal fluorada de los padres de familia atendidos en la Casa del Adulto Mayor y la Casa de la Mujer de la Municipalidad de Chorrillos. Lima – Perú. Materiales y métodos. La muestra estuvo conformada por 130 padres de familia. Se realizó una entrevista estructurada y se presentaron los datos mediante tablas de distribución de frecuencias. Resultados. Respecto al conocimiento sobre la sal fluorada, solo el 16,2% conocía...

  9. Growth of Azospirillum irakense KBC1 on the Aryl β-Glucoside Salicin Requires either salA or salB

    Science.gov (United States)

    Faure, Denis; Desair, Jos; Keijers, Veerle; Bekri, My Ali; Proost, Paul; Henrissat, Bernard; Vanderleyden, Jos

    1999-01-01

    The rhizosphere nitrogen-fixing bacterium Azospirillum irakense KBC1 is able to grow on pectin and β-glucosides such as cellobiose, arbutin, and salicin. Two adjacent genes, salA and salB, conferring β-glucosidase activity to Escherichia coli, have been identified in a cosmid library of A. irakense DNA. The SalA and SalB enzymes preferentially hydrolyzed aryl β-glucosides. A Δ(salA-salB) A. irakense mutant was not able to grow on salicin but could still utilize arbutin, cellobiose, and glucose for growth. This mutant could be complemented by either salA or salB, suggesting functional redundancy of these genes in salicin utilization. In contrast to this functional homology, the SalA and SalB proteins, members of family 3 of the glycosyl hydrolases, show a low degree of amino acid similarity. Unlike SalA, the SalB protein exhibits an atypical truncated C-terminal region. We propose that SalA and SalB are representatives of the AB and AB′ subfamilies, respectively, in glycosyl hydrolase family 3. This is the first genetic implication of this β-glucosidase family in the utilization of β-glucosides for microbial growth. PMID:10321999

  10. Intracellular trapping of cycloSal-pronucleotides by enzymatic cleavage.

    Science.gov (United States)

    Jessen, H J; Tonn, V; Meier, C

    2007-01-01

    A new synthesis for cycloSal-pronucleotides bearing enzymatically cleavable triggers is presented. This trigger is introduced to trap the pronucleotide inside cells. The general concept and hydrolysis data in different media are discussed.

  11. Asynchronous Mid-Value Select in Hybrid SAL

    Data.gov (United States)

    National Aeronautics and Space Administration — The following SAL model is an abstraction of a module that implements a fault-tolerant mid-value select on asynchronously produced inputs. This is part of a larger...

  12. SOD1 Transcriptional and Posttranscriptional Regulation and Its Potential Implications in ALS

    Directory of Open Access Journals (Sweden)

    Pamela Milani

    2011-01-01

    Full Text Available Copper-zinc superoxide dismutase (SOD1 is a detoxifying enzyme localized in the cytosol, nucleus, peroxisomes, and mitochondria. The discovery that mutations in SOD1 gene cause a subset of familial amyotrophic lateral sclerosis (FALS has attracted great attention, and studies to date have been mainly focused on discovering mutations in the coding region and investigation at protein level. Considering that changes in SOD1 mRNA levels have been associated with sporadic ALS (SALS, a molecular understanding of the processes involved in the regulation of SOD1 gene expression could not only unravel novel regulatory pathways that may govern cellular phenotypes and changes in diseases but also might reveal therapeutic targets and treatments. This review seeks to provide an overview of SOD1 gene structure and of the processes through which SOD1 transcription is controlled. Furthermore, we emphasize the importance to focus future researches on investigating posttranscriptional mechanisms and their relevance to ALS.

  13. Preclinical safety evaluation of intravenously administered SAL200 containing the recombinant phage endolysin SAL-1 as a pharmaceutical ingredient.

    Science.gov (United States)

    Jun, Soo Youn; Jung, Gi Mo; Yoon, Seong Jun; Choi, Yun-Jaie; Koh, Woo Suk; Moon, Kyoung Sik; Kang, Sang Hyeon

    2014-01-01

    Phage endolysins have received increasing attention as potent antibacterial agents. However, although safety evaluation is a prerequisite for the drug development process, a good laboratory practice (GLP)-compliant safety evaluation has not been reported for phage endolysins. A safety evaluation of intravenously administered SAL200 (containing phage endolysin SAL-1) was conducted according to GLP standards. No animals died in any of the safety evaluation studies. In general toxicity studies, intravenously administered SAL200 showed no sign of toxicity in rodent single- and repeated-dose toxicity studies. In the dog repeated-dose toxicity test, there were no abnormal findings, with the exception of transient abnormal clinical signs that were observed in some dogs when daily injection of SAL200 was continued for more than 1 week. In safety pharmacology studies, there were also no signs of toxicity in the central nervous and respiratory system function tests. In the cardiovascular function test, there were no abnormal findings in all tested dogs after the first and second administrations, but transient abnormalities were observed after the third and fourth administrations (2 or 3 weeks after the initial administration). All abnormal findings observed in these safety evaluation studies were slight to mild, were apparent only transiently after injection, and resolved quickly. The safety evaluation results for SAL200 support the implementation of an exploratory phase I clinical trial and underscore the potential of SAL200 as a new drug. We have designed an appropriate phase I clinical trial based on the results of this study.

  14. Reducing salt intake to prevent hypertension and cardiovascular disease Reducción del consumo de sal para prevenir la hipertensión y las enfermedades cardiovasculares

    Directory of Open Access Journals (Sweden)

    Feng J. He

    2012-10-01

    Full Text Available There is compelling evidence that dietary salt intake is the major cause of raised blood pressure (BP and that a reduction in salt intake from the current level of ≈ 9 - 12 g/day in most countries to the recommended level of 9 g/day is highly prevalent. Sources of salt in the diet vary hugely among countries; in developed countries, 75% of salt comes from processed foods, whereas in developing countries such as parts of Brazil, 70% comes from salt added during cooking or at the table. To reduce population salt intake, the food industry needs to implement a gradual and sustained reduction in the amount of salt added to foods in developed countries. In developing countries, a public health campaign plays a more important role in encouraging consumers to use less salt coupled with widespread replacement of salt with substitutes that are low in sodium and high in potassium. Numerous countries in the Americas have started salt reduction programs. The challenge now is to engage other countries. A reduction in population salt intake will result in a major improvement in public health along with major health-related cost savings.Hay datos probatorios irrefutables de que la ingesta de sal alimentaria es la principal causa de hipertensión y de que una reducción del consumo de sal, del nivel actual de aproximadamente 9 a 12 g/d en la mayor parte de los países al nivel recomendado de menos de 5 g/d, disminuye la presión arterial. Una reducción adicional hasta 3 a 4 g/d tiene un mayor efecto y es necesario seguir teniendo en cuenta la posibilidad de metas de consumo de sal inferiores en la población. Los estudios de cohortes y los ensayos clínicos han demostrado que el menor consumo de sal se asocia con una reducción del riesgo de padecer enfermedades cardiovasculares. La reducción de sal es una de las medidas más rentables para mejorar la salud pública a escala mundial. En la Región de las Américas, hay una alta prevalencia de un consumo de

  15. The C-2 derivatives of salvinorin A, ethoxymethyl ether Sal B and β-tetrahydropyran Sal B, have anti-cocaine properties with minimal side effects.

    Science.gov (United States)

    Ewald, Amy W M; Bosch, Peter J; Culverhouse, Aimee; Crowley, Rachel Saylor; Neuenswander, Benjamin; Prisinzano, Thomas E; Kivell, Bronwyn M

    2017-08-01

    Kappa-opioid receptor (KOPr) agonists have pre-clinical anti-cocaine and analgesic effects. However, side effects including sedation, dysphoria, aversion, anxiety and depression limit their therapeutic development. The unique structure of salvinorin A has been used to develop longer acting KOPr agonists. We evaluate two novel C-2 analogues of salvinorin A, ethoxymethyl ether Sal B (EOM Sal B) and β-tetrahydropyran Sal B (β-THP Sal B) alongside U50,488 for their ability to modulate cocaine-induced behaviours and side effects, pre-clinically. Anti-cocaine properties of EOM Sal B were evaluated using the reinstatement model of drug seeking in self-administering rats. EOM Sal B and β-THP Sal B were evaluated for effects on cocaine-induced hyperactivity, spontaneous locomotor activity and sucrose self-administration. EOM Sal B and β-THP Sal B were evaluated for aversive, anxiogenic and depressive-like effects using conditioned place aversion (CPA), elevated plus maze (EPM) and forced swim tests (FSTs), respectively. EOM Sal B (0.1, 0.3 mg/kg, intraperitoneally (i.p.)) dose dependently attenuated drug seeking, and EOM Sal B (0.1 mg/kg, i.p.) and β-THP Sal B (1 mg/kg, i.p.) attenuated cocaine-induced hyperactivity. No effects on locomotor activity, open arm times (EPM) or swimming behaviours (FST) were seen with EOM (0.1 or 0.3 mg/kg, i.p.) or β-THP Sal B (1 or 2 mg/kg, i.p.). However, β-THP Sal B decreased time spent in the drug-paired chamber. EOM Sal B is more potent than Sal A and β-THP Sal B in reducing drug-seeking behaviour with fewer side effects. EOM Sal B showed no effects on sucrose self-administration (0.1 mg/kg), locomotor, depressive-like, aversive-like or anxiolytic effects.

  16. Isolasi dan karakterisasi mutan sal4 di ragi (Saccharomyces cereviceae

    Directory of Open Access Journals (Sweden)

    Ni Nyoman Tri Puspaningsih

    1995-03-01

    Full Text Available Recently, genetics manipulation in yeast Saccharomyces cereviceae have much been done. It because yeast can be used as a host cell alternative in the forign protein expression, therefore information about fidelity from yeast should be studied. Preliminary study showed that sal4 gene has assumed to has a role in translation fidelity control and/or termination factor. To study the gene function, mutation in yeast BSC483/1a has been done by Ethylmethane sulphonate. Mutants wished are mutated at sal4 locus and have characteristic of both allosuppressor and omnipotent suppressor. Phenotype of alosuppresor mutants were indicated by white colour consistency in YPD and Y8 medium, temperature sensitivity, paremomcyn sensitivity and growth rate. Quantitatively, effectiveness as omnipotent suppressor has been done by using gene fuion between PGK and β-galaktosidase. The result showed that BSC483/1a strain could be mutated by Ethylmethane sulphonate 1% and produced eight allosuppressor mutants. Two of them (Number 8 and 10 have characteristic of temperature sensitivity, and the two others (Number 1 and 13 were mutated at sal4 gene locus. Characterize of sal4 mutants (1 and 13 didn't show temperature sensitive and have growth rate re;atively more slowly than the wild type. Mutant (number 13 could suppress nonsense mutation (realthrough at termination codon UAG with β-galaktosidase activity as amount 2.70 unit/ml.

  17. El consumo de sal ¿Riesgo o necesidad?

    Directory of Open Access Journals (Sweden)

    Rubén García Núñez

    2011-12-01

    Full Text Available Se realizó una revisión acerca del consumo de sal y sus usos en las diferentes etapas de la historia de la humanidad. Se abordan elementos relacionados con su presencia en el organismo, las funciones fisiológicas esenciales para el mantenimiento homeostático en la vida, así como las complicaciones cuando sus niveles son inferiores a los límites fisiológicos, o superiores a estos. Se analizaron diferentes estudios y sus contradicciones sobre los daños que ocasiona a la salud el consumo de sal. Se precisan los grupos poblacionales sal sensibles (SS y sal resistentes (SR, pautados por estudios realizados, así como las posibles causas de sus variaciones. Se emiten conclusiones en cuanto a riesgo y beneficio del consumo de sal. Se recomienda intervenir en un equilibrado consumo, tanto para los individuos como para las poblaciones. Salt Intake: ¿Risk or Need? A literary review on salt intake and its uses throughout the different stages in the history of mankind was conducted. It addresses issues related to salt concentrations in the human body, its physiological functions that are essential for homeostatic control, as well as the complications when salt levels are below or over the physiological limits. Different studies were analyzed including the contradictions they all present on the damage that salt intake can cause to human health. Population groups are defined as salt sensitive (SS and salt resistant (SR according to study that was conducted as well as to the possible causes for their variations. Conclusions are drawn on the risks and benefits of salt intake. Intervention is recommended for balanced consumption, both for individuals and for populations.

  18. Auditoria del proceso de producción de sal en la provincia de Guayas, con el objetivo de sugerir estándares de control

    OpenAIRE

    Pinos Ullauri, Nathalia; Fernandez Ronquillo, Jorge

    2009-01-01

    Este trabajo es una auditoria al proceso de producción de la sal en la provincia del Guayas, proceso que se comparará con un modelo mejorado obtenido a base de consultas con otras industrias en el mundo, para poder así sugerir mejoras y nuevos estándares de control. El Capítulo I presenta una serie de generalidades de la sal, de los principales productores en el mundo, el consumo a nivel mundial, las normativas de calidad para consumo humano, las formas de cultivo y la extracción, etc. ...

  19. Adult onset sporadic ataxias: a diagnostic challenge

    Directory of Open Access Journals (Sweden)

    Orlando Graziani Povoas Barsottini

    2014-03-01

    Full Text Available Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic conditions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.

  20. Tsunami vulnerability and damage assessment in the coastal area of Rabat and Salé, Morocco

    Directory of Open Access Journals (Sweden)

    A. Atillah

    2011-12-01

    Full Text Available This study, a companion paper to Renou et al. (2011, focuses on the application of a GIS-based method to assess building vulnerability and damage in the event of a tsunami affecting the coastal area of Rabat and Salé, Morocco. This approach, designed within the framework of the European SCHEMA project (www.schemaproject.org is based on the combination of hazard results from numerical modelling of the worst case tsunami scenario (inundation depth based on the historical Lisbon earthquake of 1755 and the Portugal earthquake of 1969, together with vulnerability building types derived from Earth Observation data, field surveys and GIS data. The risk is then evaluated for this highly concentrated population area characterized by the implementation of a vast project of residential and touristic buildings within the flat area of the Bouregreg Valley separating the cities of Rabat and Salé. A GIS tool is used to derive building damage maps by crossing layers of inundation levels and building vulnerability. The inferred damage maps serve as a base for elaborating evacuation plans with appropriate rescue and relief processes and to prepare and consider appropriate measures to prevent the induced tsunami risk.

  1. Hipertensión arterial sistémica y sensibilidad a la sal

    OpenAIRE

    Rodríguez Castellanos,Francisco E

    2006-01-01

    Individuos con hipertensión arterial tienen mayor riesgo de eventos cardiovasculares y muerte. En 50% de los casos de hipertensión ésta es sensible a sal, lo cual se vuelve más prevalente con la edad. La sensibilidad a sal se ha relacionado con hipertrofia ventricular izquierda, proteinuria y ausencia de la caída nocturna de la presión arterial. La sensibilidad a sal implica una alteración en la natriuresis de presión. Se ha propuesto que el desarrollo de sensibilidad a sal ocurre en 3 fases....

  2. Outcome of sporadic amyotrophic lateral sclerosis treated With non-invasive ventilation and riluzole Sobrevida en pacientes con esclerosis lateral amiotrófica esporádica tratados con ventilación no invasiva y riluzole

    Directory of Open Access Journals (Sweden)

    Martín Sívori

    2007-08-01

    Full Text Available Sporadic amyotrophic lateral sclerosis (sALS is a progressive degenerative motor neuron disorder lacking specific treatment. Riluzole is the only drug able to modestly slow down the course of the disease. Respiratory insufficiency is the main cause of death; non invasive ventilation (NIV has shown to improve survival. Our aim was to evaluate the effect of NIV and riluzole on survival. Ninety seven patients with a diagnosis of sALS were assessed and followed up for 60 months. Twenty nine patients received NIV and 68 did not (nNIV. Overall median survival In the NIV group was 15.41 ± 7.78 months vs. 10.88 ± 7.78 months in the nNIV group (p= 0.028. Median survival time was not different in patients receiving riluzole (n=44, as compared with those who did not (n=53, although at month 4th and 5th riluzole treated patients showed a modest benefit. In those who only received NIV (n=11 or only riluzole (n=26, survival time was 13.45 ± 13.44 months and 11.19 ± 7.79 months, respectively. Patients who received both NIV and riluzole (n=18 had a median survival time of 16.61 ± 10.97 months vs. 10.69 ± 7.86 months for those who received only supportive treatment (n=42 (p= 0.021. NIV improved survival in our series of patients. Riluzole did not show any significant impact on survival when employed as the only therapy. Patients receiving both treatments simultaneously had a significant longer survival.La esclerosis lateral amiotrófica esporádica (sALS es una enfermedad degenerativa para la que no existe tratamiento etiológico eficaz. El riluzole prolonga poco la sobrevida. La principal causa de muerte es la insuficiencia respiratoria. Uno de los tratamientos para esta última es la ventilación asistida no invasiva (NIV con equipos de doble nivel de presión. El objetivo de este trabajo fue determinar el impacto en la sobrevida de estos enfermos combinando ventilación no invasiva y riluzole. Se evaluaron y siguieron durante 60 meses 97 pacientes con

  3. Exploration of Shorea robusta (Sal seeds, kernels and its oil

    Directory of Open Access Journals (Sweden)

    Shashi Kumar C.

    2016-12-01

    Full Text Available Physical, mechanical, and chemical properties of Shorea robusta seed with wing, seed without wing, and kernel were investigated in the present work. The physico-chemical composition of sal oil was also analyzed. The physico-mechanical properties and proximate composition of seed with wing, seed without wing, and kernel at three moisture contents of 9.50% (w.b, 9.54% (w.b, and 12.14% (w.b, respectively, were studied. The results show that the moisture content of the kernel was highest as compared to seed with wing and seed without wing. The sphericity of the kernel was closer to that of a sphere as compared to seed with wing and seed without wing. The hardness of the seed with wing (32.32, N/mm and seed without wing (42.49, N/mm was lower than the kernels (72.14, N/mm. The proximate composition such as moisture, protein, carbohydrates, oil, crude fiber, and ash content were also determined. The kernel (30.20%, w/w contains higher oil percentage as compared to seed with wing and seed without wing. The scientific data from this work are important for designing of equipment and processes for post-harvest value addition of sal seeds.

  4. Patterns of Weakness, Classification of Motor Neuron Disease, and Clinical Diagnosis of Sporadic Amyotrophic Lateral Sclerosis.

    Science.gov (United States)

    Statland, Jeffrey M; Barohn, Richard J; McVey, April L; Katz, Jonathan S; Dimachkie, Mazen M

    2015-11-01

    When approaching a patient with suspected motor neuron disease (MND), the pattern of weakness on examination helps distinguish MND from other diseases of peripheral nerves, the neuromuscular junction, or muscle. MND is a clinical diagnosis supported by findings on electrodiagnostic testing. MNDs exist on a spectrum, from a pure lower motor neuron to mixed upper and lower motor neuron to a pure upper motor neuron variant. Amyotrophic lateral sclerosis (ALS) is a progressive mixed upper and lower motor neuron disorder, most commonly sporadic, which is invariably fatal. This article describes a pattern approach to identifying MND and clinical features of sporadic ALS. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. Pharmacokinetics and Tolerance of the Phage Endolysin-Based Candidate Drug SAL200 after a Single Intravenous Administration among Healthy Volunteers.

    Science.gov (United States)

    Jun, Soo Youn; Jang, In Jin; Yoon, Seonghae; Jang, Kyungho; Yu, Kyung-Sang; Cho, Joo Youn; Seong, Moon-Woo; Jung, Gi Mo; Yoon, Seong Jun; Kang, Sang Hyeon

    2017-06-01

    This study was a phase 1, single-center, randomized, double-blind, placebo-controlled, single-dosing, and dose-escalating study of intravenous SAL200. It is a new candidate drug for the treatment of antibiotic-resistant staphylococcal infections based on a recombinant form of the phage endolysin SAL-1. The study evaluated the pharmacokinetics, pharmacodynamics, and tolerance among healthy male volunteers after the intravenous infusion of single ascending doses of SAL200 (0.1, 0.3, 1, 3, and 10 mg/kg of body weight). SAL200 was well tolerated, and no serious adverse events (AEs) were observed in this clinical study. Most AEs were mild, self-limiting, and transient. The AEs reported in more than three participants were fatigue, rigors, headache, and myalgia. No clinically significant values with respect to the findings of clinical chemistry, hematology, and coagulation analyses, urinalysis, vital signs, and physical examinations were observed, and no notable trends in our electrocardiogram (ECG) results for any tested dose were noticed. A greater-than-dose-proportional increase with regard to systemic exposure and the maximum serum concentration was observed when the SAL200 dose was increased from 0.1 mg/kg to 10 mg/kg. This investigation constitutes the first-in-human phase 1 study of an intravenously administered, phage endolysin-based drug. (This study has been registered at ClinicalTrials.gov under identifier NCT01855048 and at the Clinical Research Information Service [https://cris.nih.go.kr/cris/] under identifier KCT0000968.). Copyright © 2017 Jun et al.

  6. Sporadic lymphoplasmacytic cholecystitis: a clinicopathologic entity.

    Science.gov (United States)

    Hammer, Suntrea T G; Appelman, Henry D

    2014-08-01

    To describe a sporadic form of lymphoplasmacytic cholecystitis (LPC), a condition known to occur in patients with chronic biliary tract disease. One year's worth of cholecystectomies was reviewed for sporadic cases of LPC. Histologic, radiologic, and clinical findings were reviewed and compared with noninflamed controls. Sporadic cases were also compared histologically with obstructive LPC cases. Sporadic LPC made up 7% of cholecystectomies, had a male predominance (54.2%), and more often presented with clinical signs of acute inflammation compared with controls. Radiologic findings identified gallstones in 71.4% of patients. The second most common finding was unexplained extrahepatic biliary dilation. There were no unique histologic findings to separate sporadic cases from those associated with pancreatobiliary disease. While obstructive LPC is traditionally described as acalculous, chronic cholecystitis, we show this inflammatory pattern occurs both in the presence of gallstones and outside of previously described disease categories. In addition, LPC occurs in a unique patient demographic (older men), often presenting similarly to acute cholecystitis. Copyright© by the American Society for Clinical Pathology.

  7. Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis.

    NARCIS (Netherlands)

    Es, M.A. van; Vught, P.W. van; Veldink, J.H.; Andersen, P.M.; Birve, A.; Lemmens, R.; Cronin, S.; Kooi, A.J. van der; Visser, M. de; Schelhaas, H.J.; Hardiman, O.; Ragoussis, I.; Lambrechts, D.; Robberecht, W.; Wokke, J.H.J.; Ophoff, R.A.; Berg, L.H. van den

    2009-01-01

    A genome-wide association study (GWAS) using pooled DNA samples from 386 sporadic ALS patients and 542 controls from the USA, identified genetic variation in FGGY (FLJ10986) as a risk factor, as well as 66 additional candidate SNPs. Considering the large number of hypotheses that are tested in GWAS,

  8. Erigeron mancus (Asteraceae) density as a baseline to detect future climate change in La Sal Mountain habitats

    Science.gov (United States)

    James F. Fowler; Barb Smith

    2010-01-01

    The La Sal Daisy, Erigeron mancus Rydb., is endemic to timberline and alpine habitats of the La Sal Mountains in Utah, an insular, laccolithic mountain range on the Colorado Plateau in southeastern Utah. It occurs in alpine herbaceous communities from timberline to the crestline of the La Sals. Our primary goal in this study was to measure basic population biology...

  9. Erigeron mancus elevational density gradient as a baseline to detect future climate change in LaSal Mountain habitats

    Science.gov (United States)

    James F. Fowler; Barb Smith

    2010-01-01

    The LaSal daisy, Erigeron mancus, is endemic to timberline and alpine habitats of the LaSal Mountains in Utah (Nesom 2006)(Fig. 1), an insular, laccolithic mountain range on the Colorado Plateau in southeastern Utah (Blakey and Ranney 2008). Erigeron mancus occurs in alpine herbaceous communities from timberline to the crestline of the Middle Group of the LaSals (Smith...

  10. Efecto de la adición de sal y bicarbonato sódico sobre el porcentaje de grasa abdominal y minerales en el tejido óseo de los pollos

    OpenAIRE

    Brenes, Agustín; Díez, M. V.; Rubio, L.; Yuste, P

    1988-01-01

    Se han llevado a cabo dos experimentos utilizando pollos, con el objeto de observar el efecto de la adición de sal y bicarbonato sódico en la ración, sobre la acumulación de grasa abdominal. En el experimento 1, pollos con un día de edad fueron alimentados con dietas de maíz-soja, sin sal y con distintas concentraciones de sal (0.2, 0.4 y 0.8%) añadidas al agua de bebida. En el experimento 2 se utilizaron también pollos de un día de edad repartidos en cuatro tratamientos, que consumían dietas...

  11. Adana, Gaziantep, Hatay, Kahramanmaraş bölgesi halk oyunlarının yapısal özellikleri ve karşılaştırmalı analizi

    OpenAIRE

    SÜMBÜL, Muzaffer

    2004-01-01

    Bölgesel halk oyunlarının yapısal özellikleri: Adana,Gaziantep-Hatay- Kahramanmaraş halk oyunlarının karşılaştırmalı analizi adlı bu çalışmamızda, yerel oyunlar çok yönlü olarak incelenmiştir. Bu analiz gerçekleştirilirken Halk oyunlarının yapısal özellikleri adlı model rehber olarak berıimsenmiştir. Halk oyunlarının yapısal özellikleri, düşünsel boyu...

  12. Clinical and neuropathological features of ALS/FTD with TIA1 mutations.

    Science.gov (United States)

    Hirsch-Reinshagen, Veronica; Pottier, Cyril; Nicholson, Alexandra M; Baker, Matt; Hsiung, Ging-Yuek R; Krieger, Charles; Sengdy, Pheth; Boylan, Kevin B; Dickson, Dennis W; Mesulam, Marsel; Weintraub, Sandra; Bigio, Eileen; Zinman, Lorne; Keith, Julia; Rogaeva, Ekaterina; Zivkovic, Sasha A; Lacomis, David; Taylor, J Paul; Rademakers, Rosa; Mackenzie, Ian R A

    2017-12-07

    Mutations in the stress granule protein T-cell restricted intracellular antigen 1 (TIA1) were recently shown to cause amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia (FTD). Here, we provide detailed clinical and neuropathological descriptions of nine cases with TIA1 mutations, together with comparisons to sporadic ALS (sALS) and ALS due to repeat expansions in C9orf72 (C9orf72+). All nine patients with confirmed mutations in TIA1 were female. The clinical phenotype was heterogeneous with a range in the age at onset from late twenties to the eighth decade (mean = 60 years) and disease duration from one to 6 years (mean = 3 years). Initial presentation was either focal weakness or language impairment. All affected individuals received a final diagnosis of ALS with or without FTD. No psychosis or parkinsonism was described. Neuropathological examination on five patients found typical features of ALS and frontotemporal lobar degeneration (FTLD-TDP, type B) with anatomically widespread TDP-43 proteinopathy. In contrast to C9orf72+ cases, caudate atrophy and hippocampal sclerosis were not prominent. Detailed evaluation of the pyramidal motor system found a similar degree of neurodegeneration and TDP-43 pathology as in sALS and C9orf72+ cases; however, cases with TIA1 mutations had increased numbers of lower motor neurons containing round eosinophilic and Lewy body-like inclusions on HE stain and round compact cytoplasmic inclusions with TDP-43 immunohistochemistry. Immunohistochemistry and immunofluorescence failed to demonstrate any labeling of inclusions with antibodies against TIA1. In summary, our TIA1 mutation carriers developed ALS with or without FTD, with a wide range in age at onset, but without other neurological or psychiatric features. The neuropathology was characterized by widespread TDP-43 pathology, but a more restricted pattern of neurodegeneration than C9orf72+ cases. Increased numbers of round eosinophilic and Lewy

  13. Genetic instability in inherited and sporadic leukemias.

    Science.gov (United States)

    Popp, Henning D; Bohlander, Stefan K

    2010-12-01

    Genetic instability due to increased DNA damage and altered DNA repair is of central significance in the initiation and progression of inherited and sporadic human leukemias. Although very rare, some inherited DNA repair insufficiency syndromes (e.g., Fanconi anemia, Bloom's syndrome) have added substantially to our understanding of crucial mechanisms of leukemogenesis in recent years. Conversely, sporadic leukemias account for the main proportion of leukemias and here DNA damaging reactive oxygen species (ROS) play a central role. Although the exact mechanisms of increased ROS production remain largely unknown and no single pathway has been detected thus far, some oncogenic proteins (e.g., the activated tyrosine kinases BCR-ABL1 and FLT3-ITD) seem to play a key role in driving genetic instability by increased ROS generation which influences the disease course (e.g., blast crisis in chronic myeloid leukemia or relapse in FLT3-ITD positive acute myeloid leukemia). Of course other mechanisms, which promote genetic instability in leukemia also exist. A newly emerging mechanism is the genome-wide alteration of epigenetic marks (e.g., hypomethylation of histone H3K79), which promotes chromosomal instability. Taken together genetic instability plays a critical role both in inherited and sporadic leukemias and emerges as a common theme in both inherited and sporadic leukemias. Beyond its theoretical impact, the analysis of genetic instability may lead the way to the development of innovative therapy strategies. © 2010 Wiley-Liss, Inc.

  14. Estrategias mundiales en la reducción de sal/sodio en el pan

    OpenAIRE

    Mónica Valverde Guillén; Jennifer Picado Pérez

    2013-01-01

    Objetivo: Proporcionar información sobre las acciones mundiales en la reducción de sal/sodio en el pan para generar datos útiles en la implementación de estrategias que busquen la disminución del consumo de sal/sodio a partir de productos panificados. Método: Se realizó una búsqueda de información en las bases de datos de Binass, PubMed, Scielo e instituciones gubernamentales. Las palabras claves fueron: contenido de sodio en el pan, menos sodio en pan, acciones para reducir sal en el pan, co...

  15. Magnetic resonance spectroscopic abnormalities in sporadic and variant Creutzfeldt-Jakob disease

    International Nuclear Information System (INIS)

    Pandya, H.G.; Coley, S.C.; Wilkinson, I.D.; Griffiths, P.D.

    2003-01-01

    AIM: To study the proton MR spectroscopic findings in Creutzfeldt-Jakob disease (CJD) (sporadic and variant). MATERIALS AND METHODS: MR imaging and proton MR spectra were acquired in two patients with sporadic CJD (biopsy proven) and one patient with variant CJD. RESULTS: The two patients with sporadic CJD demonstrated MR signal change within the basal ganglia and thalami and reduced N-acetylaspartate (NAA):creatine ratios. The patient with variant CJD showed characteristic signal change within the pulvinar of the thalami and a markedly reduced N-acetylaspartate:creatine ratio. CONCLUSION: All three patients with CJD demonstrated evidence of reduced N-acetylaspartate: creatine ratios on MR spectroscopy. These changes imply that neuronal loss and/or dysfunction is a consistent finding in established CJD. Pandya H. G., et al (2003) Clinical Radiology58, 148--153

  16. Magnetic resonance spectroscopic abnormalities in sporadic and variant Creutzfeldt-Jakob disease

    Energy Technology Data Exchange (ETDEWEB)

    Pandya, H.G.; Coley, S.C.; Wilkinson, I.D.; Griffiths, P.D

    2003-02-01

    AIM: To study the proton MR spectroscopic findings in Creutzfeldt-Jakob disease (CJD) (sporadic and variant). MATERIALS AND METHODS: MR imaging and proton MR spectra were acquired in two patients with sporadic CJD (biopsy proven) and one patient with variant CJD. RESULTS: The two patients with sporadic CJD demonstrated MR signal change within the basal ganglia and thalami and reduced N-acetylaspartate (NAA):creatine ratios. The patient with variant CJD showed characteristic signal change within the pulvinar of the thalami and a markedly reduced N-acetylaspartate:creatine ratio. CONCLUSION: All three patients with CJD demonstrated evidence of reduced N-acetylaspartate: creatine ratios on MR spectroscopy. These changes imply that neuronal loss and/or dysfunction is a consistent finding in established CJD. Pandya H. G., et al (2003) Clinical Radiology58, 148--153.

  17. Tsunami hazard assessment in the coastal area of Rabat and Salé, Morocco

    Directory of Open Access Journals (Sweden)

    C. Renou

    2011-08-01

    Full Text Available In the framework of the three-year SCHEMA European project (www.schemaproject.org, we present a generic methodology developed to produce tsunami building vulnerability and impact maps. We apply this methodology to the Moroccan coast. This study focuses on the Bouregreg Valley which is at the junction between Rabat (administrative capital, and Salé. Both present large populations and new infrastructure development. Using a combination of numerical modelling, field surveys, Earth Observation and GIS data, the risk has been evaluated for this vulnerable area.

    Two tsunami scenarios were studied to estimate a realistic range of hazards on this coast: a worst-case scenario based on the historical Lisbon earthquake of 1755 and a moderate scenario based on the Horseshoe earthquake of 28 February 1969. For each scenario, numerical models allowed the production of tsunami hazard maps (maximum inundation extent and maximum inundation depths. Moreover, the modelling results of these two scenarios were compared with the historical data available.

    A companion paper to this article (Atillah et al., 2011 presents the following steps of the methodology, namely the elaboration of building damage maps by crossing layers of building vulnerability and the so-inferred inundation depths.

  18. O Manifesto dos artistas no Salão Moderno de 1942 no RS

    Directory of Open Access Journals (Sweden)

    Úrsula Rosa Silva

    2017-05-01

    Full Text Available RESUMO: O movimento Modernista teve diferenciadas manifestações no Brasil entre os anos das décadas de 1920 e 1940. O presente texto apresenta o contexto do Rio Grande do Sul nos anos 1940 e como foi organizado o 1º. Salão Moderno de Artes Plásticas. O estudo teve como fonte principal de pesquisa o jornal Diário de Notícias, teve como metodologia a história das idéias, e foi desenvolvido junto à pesquisa de doutorado. Além disso, o texto considera as abordagens históricas sobre a arte no Rio Grande do Sul dos pesquisadores Maria Lúcia Kern, Carlos Scarinci e Ângelo Guido. ABSTRACT: The Modernista movement had different manifestations in Brazil between the years of 1920 and 1940. This paper presents the Rio Grande do Sul context in the 1940s and as was organized the 1st Modern Hall of Plastic Arts. The study had as its main source of research the newspaper Diario de Noticias, was to approach the history of ideas, and was developed by the doctoral research. In addition, the text considers the historical approaches to art in Rio Grande do Sul researchers Maria Lucia Kern, Carlos Scarinci and Angelo Guido. KEYWORDS: modernism; art; modern Art

  19. TV REKLAMLARINDAN KAÇINMA: DAVRANIŞSAL VE MEKANİK KAÇINMAYA ETKİ EDEN FAKTÖRLER

    Directory of Open Access Journals (Sweden)

    Ayşen AKYÜZ

    2012-11-01

    Full Text Available TV ADVERTISING AVOIDANCE: THE FACTORS INFLUINCING BEHAVIOURAL AND MECHANISTIC AVOIDANCEAbstract: TV advertising avoidance, presents a main issue for advertisers and marketers. Creation of TV ads involves great effort, imaginative strategy formulation and high expenditures. The expectations of the companies and advertisers from the medium are intrinsically high. The current study examines the influence of both the general attitude towards advertising and the belief factors (product information, good for economy, hedonic/pleasure and materialism on behavioral (e.g .making phone calls and mechanical avoidance (e.g. zapping by conducting surveys with the university students. Structural Equation Model is employed to investigate the relationship between the dependent and independent variables. It is believed that, the findings would make a significant contribution towards a development of the theory and create bases for a further research on this topic. Keywords: Ad Avoidance, Behavioral Avoidance, Mechanical Avoidance, Beliefs, Attitude Toward Advertising.  TV REKLAMLARINDAN KAÇINMA: DAVRANIŞSAL VE MEKANİK KAÇINMAYA ETKİ EDEN FAKTÖRLER Özet: Reklamdan kaçınma davranışı, reklamcılar ve pazarlamacılar için oldukça önemli bir gündem oluşturmaktadır. Televizyon reklamlarının yaratılması yoğun çaba, yaratıcı strateji ve yüksek harcamaları kapsar. Firmaların ve reklamcıların bu iletişim aracından beklentileri ise doğal olarak yüksek olacaktır. Bu çalışma, hem inanç faktörlerinin (bilgilendirme, ekonomik fayda, zevk/hoşnutluk, materyalizm; hem de reklama yönelik genel tutumun, davranışsal ve mekanik kaçınma üzerindeki etkilerini üniversite öğrencileri ile yapılan bir anket çalışması ile incelemektedir. Bağımlı ve bağımsız değişkenler arasındaki ilişkiyi incelemek için Yapısal Eşitlik Modeli kullanılmıştır. Bulguların hem konuyla ilgili gelecekte yapılacak araştırmalarda hem de

  20. O Debate do Salário Mínimo no Brasil

    Directory of Open Access Journals (Sweden)

    Sara Eloisa Vilmar da Silva Lemos

    2011-04-01

    Full Text Available Num contexto de estabilidade econômica, o salário mínimo pode voltar a desempenhar o seu papel original de tentar garantir ao trabalhador um salário que é o mínimo para a sua sobrevivência. Para a análise do papel do salario mínimo no mercado de trabalho brasileiro, uma resenha da literatura especifica existente parece ser um bom ponto de partida.

    1. The driver landscape of sporadic chordoma.

      Science.gov (United States)

      Tarpey, Patrick S; Behjati, Sam; Young, Matthew D; Martincorena, Inigo; Alexandrov, Ludmil B; Farndon, Sarah J; Guzzo, Charlotte; Hardy, Claire; Latimer, Calli; Butler, Adam P; Teague, Jon W; Shlien, Adam; Futreal, P Andrew; Shah, Sohrab; Bashashati, Ali; Jamshidi, Farzad; Nielsen, Torsten O; Huntsman, David; Baumhoer, Daniel; Brandner, Sebastian; Wunder, Jay; Dickson, Brendan; Cogswell, Patricia; Sommer, Josh; Phillips, Joanna J; Amary, M Fernanda; Tirabosco, Roberto; Pillay, Nischalan; Yip, Stephen; Stratton, Michael R; Flanagan, Adrienne M; Campbell, Peter J

      2017-10-12

      Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T) in up to 27% of cases. These variants recapitulate the rearrangement architecture of the pathogenic germline duplications of T that underlie familial chordoma. In addition, we find potentially clinically actionable PI3K signalling mutations in 16% of cases. Intriguingly, one of the most frequently altered genes, mutated exclusively by inactivating mutation, was LYST (10%), which may represent a novel cancer gene in chordoma.Chordoma is a rare often incurable malignant bone tumour. Here, the authors investigate driver mutations of sporadic chordoma in 104 cases, revealing duplications in notochordal transcription factor brachyury (T), PI3K signalling mutations, and mutations in LYST, a potential novel cancer gene in chordoma.

    2. [mSalUV: a new mobile messaging system for diabetes control in Mexico].

      Science.gov (United States)

      Cabrera Mendoza, Néstor Iván; Castro Enriquez, Pedro Pablo; Demeneghi Marini, Verónica Patricia; Fernández Luque, Luis; Morales Romero, Jaime; Sainz Vazquez, Luis; Ortiz León, María Cristina

      2014-01-01

      Design and develop a mobile messaging system called mSalUV, which reminds patients with type 2 diabetes about taking their medication and attending appointments and promotes healthy lifestyles, and explore patient opinion regarding use of the system. The study had three stages: 1) design and development of mSalUV; 2) design and development of text messages; and 3) exploration of patient opinion regarding use of mSalUV. The mSalUV system was created and around 40 text messages were designed. A total of 1 850 messages were sent during the 45 day intervention. Patients thought that mSalUV helped them to treat their disease and that it was easy to use, they were inclined to continue using the system in the future, and people close to them (family members and support networks) supported them using it. Furthermore, they perceived the system as "someone that cared about them." The results suggest that a system such as mSalUV would be well accepted by its potential users; in this case, people with type 2 diabetes. This presents a very interesting scenario that will enable taking advantage of new technologies for health. Further research is needed to evaluate the system's efficiency and effectiveness.

    3. Comparison Between Sporadic and Misdiagnosed Sporadic Creutzfeldt-Jakob Disease: A Report of Two Cases.

      Science.gov (United States)

      Zhao, Xiongfei; Yu, Yingxin; Zhao, Zhiru; Xu, Jiaping

      2015-06-01

      Definite accurate diagnosis for Creutzfeldt-Jakob disease (CJD) depends on neuropathologic examination of brain biopsy or autopsy. However, transmissible nature makes the invasive examination dangerous. This study was set to determine that the clinical features are for the diagnosis of CJD through a comparison study. We compared clinical features of two cases with initial diagnosis of sporadic CJD. One case was finally diagnosed as definite sporadic CJD. According to World Health Organization diagnosis criteria, the other one, which had been diagnosed as probable sporadic CJD, was confirmed as limbic encephalitis after long-term follow-up. Compared with the case of definite sporadic CJD, the misdiagnosed case did not present typical electroencephalogram (EEG) and diffusion-weighted in magnetic resonance images (DWI) of CJD. However, cerebrospinal fluid in the misdiagnosed patient showed 14-3-3 protein positivity. The patient conditions improved after treatment. Through this case comparison, we conclude that EEG and DWI are necessary for accurate diagnosis of sporadic CJD. Further, long-term follow-up is crucial to diagnosis and treatment of CJD.

    4. Characterisation of SalRAB a salicylic acid inducible positively regulated efflux system of Rhizobium leguminosarum bv viciae 3841.

      Directory of Open Access Journals (Sweden)

      Adrian J Tett

      Full Text Available Salicylic acid is an important signalling molecule in plant-microbe defence and symbiosis. We analysed the transcriptional responses of the nitrogen fixing plant symbiont, Rhizobium leguminosarum bv viciae 3841 to salicylic acid. Two MFS-type multicomponent efflux systems were induced in response to salicylic acid, rmrAB and the hitherto undescribed system salRAB. Based on sequence similarity salA and salB encode a membrane fusion and inner membrane protein respectively. salAB are positively regulated by the LysR regulator SalR. Disruption of salA significantly increased the sensitivity of the mutant to salicylic acid, while disruption of rmrA did not. A salA/rmrA double mutation did not have increased sensitivity relative to the salA mutant. Pea plants nodulated by salA or rmrA strains did not have altered nodule number or nitrogen fixation rates, consistent with weak expression of salA in the rhizosphere and in nodule bacteria. However, BLAST analysis revealed seventeen putative efflux systems in Rlv3841 and several of these were highly differentially expressed during rhizosphere colonisation, host infection and bacteroid differentiation. This suggests they have an integral role in symbiosis with host plants.

    5. A randomized trial of mexiletine in ALS: Safety and effects on muscle cramps and progression.

      Science.gov (United States)

      Weiss, Michael D; Macklin, Eric A; Simmons, Zachary; Knox, Angela S; Greenblatt, David J; Atassi, Nazem; Graves, Michael; Parziale, Nicholas; Salameh, Johnny S; Quinn, Colin; Brown, Robert H; Distad, Jane B; Trivedi, Jaya; Shefner, Jeremy M; Barohn, Richard J; Pestronk, Alan; Swenson, Andrea; Cudkowicz, Merit E

      2016-04-19

      To determine the safety and tolerability of mexiletine in a phase II double-blind randomized controlled trial of sporadic amyotrophic lateral sclerosis (SALS). Sixty participants with SALS from 10 centers were randomized 1:1:1 to placebo, mexiletine 300 mg/d, or mexiletine 900 mg/d and followed for 12 weeks. The primary endpoints were safety and tolerability. Secondary endpoints were pharmacokinetic study from plasma and CSF, ALS Functional Rating Scale-Revised (ALSFRS-R) score, slow vital capacity (SVC), and muscle cramp frequency and severity. The only serious adverse event among active arm participants was one episode of imbalance. Thirty-two percent of participants receiving 900 mg of mexiletine discontinued study drug vs 5% on placebo (p = 0.026). Pharmacokinetic study demonstrated a peak plasma concentration 2 hours postdose and strong correlation between plasma and CSF (p cramp frequency (300 mg: rate = 31% of placebo, p = 0.047; 900 mg: 16% of placebo, p = 0.002) and cramp intensity (300 mg: mean = 45% of placebo, p = 0.08; 900 mg: 25% of placebo, p = 0.005). Mexiletine was safe at both doses and well-tolerated at 300 mg/d but adverse effects at 900 mg/d led to a high rate of discontinuation. Mexiletine treatment resulted in large dose-dependent reductions in muscle cramp frequency and severity. No effect on rate of progression was detected, but clinically important differences could not be excluded in this small and short-duration study. This study provides Class I evidence that mexiletine is safe when given daily to patients with amyotrophic lateral sclerosis at 300 and 900 mg and well-tolerated at the lower dose. © 2016 American Academy of Neurology.

    6. Excess circulating alternatively activated myeloid (M2 cells accelerate ALS progression while inhibiting experimental autoimmune encephalomyelitis.

      Directory of Open Access Journals (Sweden)

      Ilan Vaknin

      Full Text Available Circulating immune cells including autoreactive T cells and monocytes have been documented as key players in maintaining, protecting and repairing the central nervous system (CNS in health and disease. Here, we hypothesized that neurodegenerative diseases might be associated, similarly to tumors, with increased levels of circulating peripheral myeloid derived suppressor cells (MDSCs, representing a subset of suppressor cells that often expand under pathological conditions and inhibit possible recruitment of helper T cells needed for fighting off the disease.We tested this working hypothesis in amyotrophic lateral sclerosis (ALS and its mouse model, which are characterized by a rapid progression once clinical symptoms are evident. Adaptive transfer of alternatively activated myeloid (M2 cells, which homed to the spleen and exhibited immune suppressive activity in G93A mutant superoxide dismutase-1 (mSOD1 mice at a stage before emergence of disease symptoms, resulted in earlier appearance of disease symptoms and shorter life expectancy. The same protocol mitigated the inflammation-induced disease model of multiple sclerosis, experimental autoimmune encephalomyelitis (EAE, which requires circulating T cells for disease induction. Analysis of whole peripheral blood samples obtained from 28 patients suffering from sporadic ALS (sALS, revealed a two-fold increase in the percentage of circulating MDSCs (LIN(-/LowHLA-DR(-CD33(+ compared to controls.Taken together, these results emphasize the distinct requirements for fighting the inflammatory neurodegenerative disease, multiple sclerosis, and the neurodegenerative disease, ALS, though both share a local inflammatory component. Moreover, the increased levels of circulating MDSCs in ALS patients indicates the operation of systemic mechanisms that might lead to an impairment of T cell reactivity needed to overcome the disease conditions within the CNS. This high level of suppressive immune cells might

    7. Risk factors for sporadic ovarian cancer

      Directory of Open Access Journals (Sweden)

      M. M. Vysotsky

      2010-01-01

      Full Text Available The review of the literature on the problems of sporadic ovarian cancer details the present views of its disputable risk factors, such as dietary habits, body weight, contraception, and labor, and age of commencing a sexual activity. It discusses the dietary and sexual behavior model that has changed since the Neolithic, as well as the number of menses and ovulations throughout the reproductive peri- od. The works by authors dealing with the impact of smoking and alcohol consumption on the risk of ovarian cancer are analyzed.

    8. La comunidad sefardita de Salónica después de las guerras balcánicas (1912-1913

      Directory of Open Access Journals (Sweden)

      Matilde Morcillo Rosillo

      1993-01-01

      Full Text Available Esta comunicación no pretende ir más allá de una primera aproximación al colectivo de judíos españoles de Salónica tras finalizar las guerras balcánicas. Un período justificado en sí mismo por cuanto coincide con el hundimiento del Imperio otomano y el resurgimiento de la nueva Grecia, lo que dificultará las relaciones de convivencia entre israelitas y griegos.

    9. Early Detection of Sporadic Pancreatic Cancer

      Science.gov (United States)

      Kenner, Barbara J.; Chari, Suresh T.; Cleeter, Deborah F.; Go, Vay Liang W.

      2015-01-01

      Abstract Innovation leading to significant advances in research and subsequent translation to clinical practice is urgently necessary in early detection of sporadic pancreatic cancer. Addressing this need, the Early Detection of Sporadic Pancreatic Cancer Summit Conference was conducted by Kenner Family Research Fund in conjunction with the 2014 American Pancreatic Association and Japan Pancreas Society Meeting. International interdisciplinary scientific representatives engaged in strategic facilitated conversations based on distinct areas of inquiry: Case for Early Detection: Definitions, Detection, Survival, and Challenges; Biomarkers for Early Detection; Imaging; and Collaborative Studies. Ideas generated from the summit have led to the development of a Strategic Map for Innovation built upon 3 components: formation of an international collaborative effort, design of an actionable strategic plan, and implementation of operational standards, research priorities, and first-phase initiatives. Through invested and committed efforts of leading researchers and institutions, philanthropic partners, government agencies, and supportive business entities, this endeavor will change the future of the field and consequently the survival rate of those diagnosed with pancreatic cancer. PMID:25938853

    10. Tumour suppressor genes in sporadic epithelial ovarian cancer

      DEFF Research Database (Denmark)

      Liu, Ying; Ganesan, Trivadi S

      2002-01-01

      Ovarian cancer is the most frequent cause of death from gynaecological malignancies in the western world, and sporadic epithelial ovarian cancer is its most predominant form. The aetiology of sporadic ovarian cancer remains unknown. Genetic studies have enabled a better understanding...... of the evolution of tumour progression. A major focus of research has been to identify tumour suppressor genes implicated in sporadic ovarian cancer over the past decade. Several tumour suppressor genes have been identified by strategies such as positional cloning and differential expression display. Further...... research is warranted to understand fully their contribution to the pathogenesis of sporadic ovarian cancer....

    11. Striving for Diversity, Accessibility and Quality: Evaluating SiSAL Journal

      Directory of Open Access Journals (Sweden)

      Jo Mynard

      2014-06-01

      Full Text Available After establishing a journal, it is important to evaluate its progress to ensure that the principles that underpin its existence continue to be a priority. In this article, the author reports on measures that were used to evaluate Studies in Self-Access Learning (SiSAL Journal. The research was designed to investigate the three principles that the journal values: diversity, accessibility and quality. The results identified some successful factors such as accessibility and favourable perceptions of SiSAL Journal’s quality. However, the results also identified areas that could be improved to further increase diversity and to encourage submissions from more authors based in different locations.

    12. Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers

      NARCIS (Netherlands)

      Dekker, Annelot M.; Seelen, Meinie; van Doormaal, Perry T. C.; van Rheenen, Wouter; Bothof, Reinoud J. P.; van Riessen, Tim; Brands, William J.; van der Kooi, Anneke J.; de Visser, Marianne; Voermans, Nicol C.; Pasterkamp, R. Jeroen; Veldink, Jan H.; van den Berg, Leonard H.; van Es, Michael A.

      2016-01-01

      Sporadic amyotrophic lateral sclerosis (ALS) is considered to be a complex disease with multiple genetic risk factors contributing to the pathogenesis. Identification of genetic risk factors that co-occur frequently could provide relevant insight into underlying mechanisms of motor neuron

    13. Diseño de un sistema de mobiliario para el salón principal de las viviendas de interés social a partir de principios de diseño sostenible

      OpenAIRE

      Gómez Martínez, Álvaro Andrés; Herrera Jaramillo, Jully Andrea

      2010-01-01

      El proyecto presenta una solución de un sistema mobiliario para el salón principal de las Viviendas de Interés Social teniendo en cuenta principios de diseño sostenible, dando respuesta a la problemática social que tienen los usuarios de las VIS al adquirir mobiliario a bajo costo y adicionalmente para un espacio reducido.

    14. MRI of sporadic Creutzfeldt-Jakob disease

      International Nuclear Information System (INIS)

      Kong, A.; Vliet, A. Van der.

      2008-01-01

      Full text: The key MRI findings in five cases of sporadic Creutzfeldt-Jakob disease (CJD) are illustrated with four 'definite' and one 'probable' according to World Health Organization criteria. Close attention to fluid-attenuation inversion recovery and diffusion-weighted imaging sequences are important for diagnosis, noting especially restricted diffusion in cortical and deep grey matter. Our study and those of others show predominant cortical, caudate and thalamic involvement. This pattern is highly sensitive and specific for the diagnosis. Fluid-attenuation inversion recovery and diffusion-weighted imaging signal abnormality becomes progressively more extensive and bilateral as disease progresses, but may become less pronounced in end-stage disease because of atrophy.

    15. Dietary factors and microsatellite instability in sporadic colon carcinomas

      NARCIS (Netherlands)

      Diergaarde, B.; Braam, H.; Muijen, van G.N.P.; Ligtenberg, M.J.L.; Kok, F.J.; Kampman, E.

      2003-01-01

      Microsatellite instability (MSI) occurs in 10-20% of the sporadic colon carcinomas and appears to be primarily due to alterations in hMLH1 and hMSH2. Little is known about the role of diet in MSI-related colon carcinogenesis. We used data from a Dutch population-based case-control study on sporadic

    16. Pharmacokinetics of the phage endolysin-based candidate drug SAL200 in monkeys and its appropriate intravenous dosing period.

      Science.gov (United States)

      Jun, Soo Youn; Jung, Gi Mo; Yoon, Seong Jun; Youm, So Young; Han, Hyoung-Yun; Lee, Jong-Hwa; Kang, Sang Hyeon

      2016-10-01

      SAL200 is a new phage endolysin-based candidate drug for the treatment of staphylococcal infections. An intravenous administration study was conducted in monkeys to obtain pharmacokinetic information on SAL200 and to assess the safety of a short SAL200 dosing period (<1 week). Maximum serum drug concentrations and systemic SAL200 exposure were proportional to the dose and comparable in male and female monkeys. SAL200 was well tolerated, and no adverse events or laboratory abnormalities were detected after injection of a single dose of up to 80 mg/kg per day, or injection of multiple doses of up to 40 mg/kg per day. © 2016 John Wiley & Sons Australia, Ltd.

    17. XX salón de artistas nacionales vs. salón nacional 1969: botín de guerra entre sociedad colombiana de artes plásticas y museo de arte moderno

      Directory of Open Access Journals (Sweden)

      María Mercedes Herrera Buitrago

      2011-12-01

      Full Text Available Este artículo aborda la enconada disputa entre los dos grupos que compitieron por el manejo del Salón Nacional de Artistas en 1969 —elMuseo de Arte Moderno y la Sociedad Colombiana de Artes Plásticas—, que se dio en medio de una desbandada de ataques e improperios que radicalizaron las posiciones y desencadenaron un doble rompimiento: la salida de Marta Traba de la dirección tácita del Museo de Arte Moderno, seguida de su abandono del país, y la extracción temeraria de dicho museo del campus universitario. Para rastrear esta querella se consultó la documentación del Archivo Central Histórico de la Universidad Nacional de Colombia, al igual que los principales periódicos de la época, con el propósito de comprender cómo estos altercados y escándalos se configuraron en rasgos propios de la constitución del campo artístico colombiano, donde antes que a partir de posturas intelectuales frente al arte, se compite desde intereses de grupo, mientras se enarbolaba la defensa de los “verdaderos” valores de la plástica nacional

    18. Economic contribution of participatory agroforestry program to poverty alleviation: a case from Sal forests, Bangladesh

      NARCIS (Netherlands)

      Islam, K.K.; Hoogstra, M.A.; Ullah, M.O.; Sato, N.

      2012-01-01

      In the Forest Department of Bangladesh, a Participatory Agroforestry Program (PAP) was initiated at a denuded Sal forests area to protect the forest resources and to alleviate poverty amongst the local poor population. We explored whether the PAP reduced poverty and what factors might be responsible

    19. The Safeguards Analytical Laboratory (SAL) in the Agency's safeguards measurement system activity in 1990

      International Nuclear Information System (INIS)

      Bagliano, G.; Cappis, J.; Deron, S.; Parus, J.L.

      1991-05-01

      The IAEA applies Safeguards at the request of a Member State to whole or part of its nuclear materials. The verification of nuclear material accountability still constitutes the fundamental method of control, although sealing and surveillance procedures play an important complementary and increasing role in Safeguards. A small fraction of samples must still be analyzed at independent analytical laboratories using conventional Destructive Analytical (DA) methods of highest accuracy in order to verify that small potential biases in the declarations of the State are not masking protracted diversions of significant quantities of fissile materials. The Safeguards Analytical Laboratory (SAL) is operated by the Agency's Laboratories at Seibersdorf to provide to the Department of Safeguards and its inspectors such off-site Analytical Services, in collaboration with the Network of Analytical Laboratories (NWAL) of the Agency. In the last years SAL and the Safeguards DA Services have become more directly involved in the qualification and utilization of on-site analytical instrumentation such as K-edge X-Ray absorptiometers and quadrupole mass spectrometers. The nature and the origin of the samples analyzed, the measurements usually requested by the IAEA inspectors, the methods and the analytical techniques available at SAL and at the Network of Analytical Laboratories (NWAL) with the performances achieved during the past years are described and discussed in several documents. This report gives an evaluation compared with 1989 of the volume and the quality of the analyses reported in 1990 by SAL and by the NWAL in reply to requests of IAEA Safeguards inspectors. The reports summarizes also on-site DA developments and support provided by SAL to the Division of Safeguards Operation and special training courses to the IAEA Safeguards inspectors. 55 refs, 7 figs, 15 tabs

    20. Earth's influx of different populations of sporadic meteoroids from photographic and television data

      International Nuclear Information System (INIS)

      Ceplecha, Z.

      1988-01-01

      Precise photographic and television double- and multi-station data on 3624 sporadic meteors in the mass range from 2 x 10 -5 grams to 2 x 10 7 grams form the basis of this paper. The applied classification criteria and procedures are defined and described. A survey of 7 different populations of sporadic meteoroids known so far is presented. The total numbers and masses of meteoroids as a function of mass are given for individual groups and for all sporadic meteors. The absolute calibration of the influx to the Earth was carried out by comparison with the results of Halliday et al. (1984). The comparison with the visual and cratering data revealed good agreement in the narrow ''visual'' interval of masses, and disagreement in the extrapolated parts of the visual and cratering flux curves. The slope of the cumulative number curve for the meteorite-dropping fireballs (type I) with masses larger than 1 kg was found as -0.69 in perfect agreement with the results of Halliday et al. (1984). The final mass scale derived in this paper is situated between the scale of McCrosky and the scale of Halliday. The relative significance of the different groups of meteoroids changes with the mass quite dramatically. The total influx of sporadic meteoroids in the mass interval of 12 orders from 2 x 10 7 to 2 x 10 -5 grams resulted in 5 x 10 9 grams per year for the entire Earth's surface. Most of this mass comes in the form of larger meteoroids. Bulk densities and ablation coefficient are presented for the individual meteor groups depending on different ablation models of several authors and some extreme concepts of this problem are discussed. (author). 3 figs., 6 tabs., 38 refs

    1. Sporadic aurorae observed in East Asia

      Directory of Open Access Journals (Sweden)

      D. M. Willis

      2007-03-01

      Full Text Available All the accessible auroral observations recorded in Chinese and Japanese histories during the interval AD 1840–1911 are investigated in detail. Most of these auroral records have never been translated into a Western language before. The East Asian auroral reports provide information on the date and approximate location of each auroral observation, together with limited scientific information on the characteristics of the auroral luminosity such as colour, duration, extent, position in the sky and approximate time of occurrence. The full translations of the original Chinese and Japanese auroral records are presented in an appendix, which contains bibliographic details of the various historical sources. (There are no known reliable Korean observations during this interval. A second appendix discusses a few implausible "auroral" records, which have been rejected. The salient scientific properties of all exactly dated and reliable East Asian auroral observations in the interval AD 1840–1911 are summarised succinctly. By comparing the relevant scientific information on exactly dated auroral observations with the lists of great geomagnetic storms compiled by the Royal Greenwich Observatory, and also the tabulated values of the Ak (Helsinki and aa (Greenwich and Melbourne magnetic indices, it is found that 5 of the great geomagnetic storms (aa>150 or Ak>50 during either the second half of the nineteenth century or the first decade of the twentieth century are clearly identified by extensive auroral displays observed in China or Japan. Indeed, two of these great storms produced auroral displays observed in both countries on the same night. Conversely, at least 29 (69% of the 42 Chinese and Japanese auroral observations occurred at times of weak-to-moderate geomagnetic activity (aa or Ak≤50. It is shown that these latter auroral displays are very similar to the more numerous (about 50 examples of sporadic aurorae observed in the United States

    2. Sporadic aurorae observed in East Asia

      Directory of Open Access Journals (Sweden)

      D. M. Willis

      2007-03-01

      Full Text Available All the accessible auroral observations recorded in Chinese and Japanese histories during the interval AD 1840–1911 are investigated in detail. Most of these auroral records have never been translated into a Western language before. The East Asian auroral reports provide information on the date and approximate location of each auroral observation, together with limited scientific information on the characteristics of the auroral luminosity such as colour, duration, extent, position in the sky and approximate time of occurrence. The full translations of the original Chinese and Japanese auroral records are presented in an appendix, which contains bibliographic details of the various historical sources. (There are no known reliable Korean observations during this interval. A second appendix discusses a few implausible "auroral" records, which have been rejected. The salient scientific properties of all exactly dated and reliable East Asian auroral observations in the interval AD 1840–1911 are summarised succinctly. By comparing the relevant scientific information on exactly dated auroral observations with the lists of great geomagnetic storms compiled by the Royal Greenwich Observatory, and also the tabulated values of the Ak (Helsinki and aa (Greenwich and Melbourne magnetic indices, it is found that 5 of the great geomagnetic storms (aa>150 or Ak>50 during either the second half of the nineteenth century or the first decade of the twentieth century are clearly identified by extensive auroral displays observed in China or Japan. Indeed, two of these great storms produced auroral displays observed in both countries on the same night. Conversely, at least 29 (69% of the 42 Chinese and Japanese auroral observations occurred at times of weak-to-moderate geomagnetic activity (aa or Ak≤50. It is shown that these latter auroral displays are very similar to the more numerous (about 50 examples of sporadic

    3. Influencia del consumo de sal y de analgésicos efervescentes con sodio en pacientes con hipertensión y riesgo vascular

      Directory of Open Access Journals (Sweden)

      Martínez Pérez SR

      2010-12-01

      Full Text Available La ingesta del sodio que contienen los alimentos y algunos medicamentos puede producir una elevación de los valores de presión arterial de los individuos. La Organización Mundial de la Salud recomienda de forma global no superar la ingesta diaria de 2 g de sodio en los adultos sanos (5 g de sal común. Para grupos de riesgo se establecen límites más estrictos (0,5-1,5 g de sodio diarios. En España se estima que cada persona consume al día 11 g de sal por término medio. Diversos estudios, realizados en distintas poblaciones, han podido objetivar una correlación directa entre la ingesta de sodio en la dieta y la prevalencia de hipertensión arterial. Otros estudios corroboran el efecto de la reducción del consumo de sal en la dieta sobre la disminución de los valores de presión arterial y de la morbilidad y mortalidad cardiovascular. Muchos medicamentos contienen una elevada cantidad de sodio por tener excipientes efervescentes (1 g de paracetamol efervescente puede llegar a aportar más de 0,5 g de sodio, de forma que, si su posología es cada 6-8 horas, pueden superar los límites diarios de sodio recomendados, incluso para un adulto sano. En este artículo se revisa la evidencia disponible sobre el efecto beneficioso de una dieta hiposódica para el control de la hipertensión, las consideraciones sobre el uso de analgésicos y AINE en los pacientes con enfermedad cardiovascular y se insiste en la advertencia de evitar, siempre que sea posible, el uso de medicamentos efervescentes, especialmente en los mayores de 50 años.

    4. CAMS newly detected meteor showers and the sporadic background

      Science.gov (United States)

      Jenniskens, P.; Nénon, Q.; Gural, P. S.; Albers, J.; Haberman, B.; Johnson, B.; Morales, R.; Grigsby, B. J.; Samuels, D.; Johannink, C.

      2016-03-01

      The Cameras for Allsky Meteor Surveillance (CAMS) video-based meteoroid orbit survey adds 60 newly identified showers to the IAU Working List of Meteor Showers (numbers 427, 445-446, 506-507, and part of 643-750). 28 of these are also detected in the independent SonotaCo survey. In total, 230 meteor showers and shower components are identified in CAMS data, 177 of which are detected in at least two independent surveys. From the power-law size frequency distribution of detected showers, we extrapolate that 36% of all CAMS-observed meteors originated from ∼700 showers above the N = 1 per 110,000 shower limit. 71% of mass falling to Earth from streams arrives on Jupiter-family type orbits. The transient Geminids account for another 15%. All meteoroids not assigned to streams form a sporadic background with highest detected numbers from the apex source, but with 98% of mass falling in from the antihelion source. Even at large ∼7-mm sizes, a Poynting-Robertson drag evolved population is detected, which implies that the Grün et al. collisional lifetimes at these sizes are underestimated by about a factor of 10. While these large grains survive collisions, many fade on a 104-y timescale, possibly because they disintegrate into smaller particles by processes other than collisions, leaving a more resilient population to evolve.

    5. Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

      Directory of Open Access Journals (Sweden)

      Modibo Sangare

      2016-06-01

      Conclusion: Because of the short survival time of our patients, family histories and sample DNA for testing were not done. However, our results show that sporadic ALS is of earlier onset and shorter survival time as compared to patients elsewhere. We plan to establish a network of neurologists and researchers for early screening of ALS.

    6. DAVRANIŞSAL KURUMSAL FİNANS EKSENİNDE KURUMSAL FİNANSAL KARARLAR: BİR LİTERATÜR DEĞERLENDİRMESİ

      OpenAIRE

      BULUT, Esra; ER, Bünyamin

      2018-01-01

      Kurumsal finansta geleneksel bakış açısı, yöneticileri rasyonel ve beklenen faydayı artırmaya çalışan bireylerolarak değerlendirmektedir. Bu anlamda yöneticilerin kararlarında önyargısız davrandıkları varsayılmaktadır.Günümüzde ise bu yaklaşım önemli eleştirilere uğramış ve bazı bilişsel önyargıların kurumsal finansalkararlar üzerinde etkili olabileceği düşüncesi yapılan çalışmalardan elde edilen ampirik bulgularladesteklenmiştir Bu eksende ortaya çıkan davranışsal kurumsal finans, yönetici i...

    7. Presencia de lesiones cariosas en escolares que consumen y no consumen sal fluorada en dos poblados de Tarma

      OpenAIRE

      Mansilla Rojas, Yhanderee Cynthia

      2008-01-01

      Objetivo: El objetivo del presente estudio fue determinar y comparar la presencia de lesiones cariosas mediante el uso del índice de CPOD (dientes cariados, perdidos/extraídos y obturados) en escolares de 12 años pertenecientes a dos poblados de Tarma, de los cuales uno consume sal fluorada y el otro no. Material y método: Se trabajó con dos muestras: 78 sujetos para la población consumidora de sal fluorada y 104 para la población consumidora de sal no fluorada. Para realizar el e...

    8. EL PUERTO DE TORREVIEJA: GESTACIÓN Y DESARROLLO DE UN LARGO PROYECTO PARA LA COMERCIALIZACIÓN DE LA SAL

      Directory of Open Access Journals (Sweden)

      Gregorio Canales Martínez

      1997-01-01

      Full Text Available El proyecto de construcción de un puerto en la rada de Torrevieja ha constituido, desde mediados del siglo XIX, una de las aspiraciones económicas más importantes de los habitantes del Bajo Segura. Desde los primeros planteamientos se vio en esta dota- ción la solución a los problemas de infraestructura para el embarque de la importante producción de sal de las lagunas cercanas a la localidad. Además, la comarca aspiraba a contar con un centro de conexión marítimo internacional para dar salida a las distintas cosechas agrícolas de su espacio de huerta. Estos dos factores fueron determinantes para mantener vivo el proyecto del puerto, a pesar de las constantes demoras y aplazamientos de su ejecución. No sería hasta bien entrado el siglo XX cuando se vieron cumplidas estas pretensiones debido al empuje que mantuvo el comercio de la sal.

    9. Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers

      DEFF Research Database (Denmark)

      Halvarsson, Britta; Anderson, Harald; Domanska, Katarina

      2008-01-01

      Identification of sporadic mismatch repair (MMR)-defective colon cancers is increasingly demanded for decisions on adjuvant therapies. We evaluated clinicopathologic factors for the identification of these prognostically favorable tumors. Histopathologic features in 238 consecutive colon cancers...

    10. Reducing Aircraft Down for Lack of Parts with Sporadic Demand

      National Research Council Canada - National Science Library

      Bachman, Tovey

      2004-01-01

      .... Because of their sporadic demand, it is difficult to decide when to buy these items and in what quantities. As systems become more reliable and failure rates decrease, the number of these infrequently demanded parts is likely to grow...

    11. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

      Science.gov (United States)

      Kallenberg, K.; Summers, D. M.; Romero, C.; Taratuto, A.; Heinemann, U.; Breithaupt, M.; Varges, D.; Meissner, B.; Ladogana, A.; Schuur, M.; Haik, S.; Collins, S. J.; Jansen, Gerard H.; Stokin, G. B.; Pimentel, J.; Hewer, E.; Collie, D.; Smith, P.; Roberts, H.; Brandel, J. P.; van Duijn, C.; Pocchiari, M.; Begue, C.; Cras, P.; Will, R. G.; Sanchez-Juan, P.

      2009-01-01

      Several molecular subtypes of sporadic Creutzfeldt–Jakob disease have been identified and electroencephalogram and cerebrospinal fluid biomarkers have been reported to support clinical diagnosis but with variable utility according to subtype. In recent years, a series of publications have demonstrated a potentially important role for magnetic resonance imaging in the pre-mortem diagnosis of sporadic Creutzfeldt–Jakob disease. Magnetic resonance imaging signal alterations correlate with distinct sporadic Creutzfeldt–Jakob disease molecular subtypes and thus might contribute to the earlier identification of the whole spectrum of sporadic Creutzfeldt–Jakob disease cases. This multi-centre international study aimed to provide a rationale for the amendment of the clinical diagnostic criteria for sporadic Creutzfeldt–Jakob disease. Patients with sporadic Creutzfeldt–Jakob disease and fluid attenuated inversion recovery or diffusion-weight imaging were recruited from 12 countries. Patients referred as ‘suspected sporadic Creutzfeldt–Jakob disease’ but with an alternative diagnosis after thorough follow up, were analysed as controls. All magnetic resonance imaging scans were assessed for signal changes according to a standard protocol encompassing seven cortical regions, basal ganglia, thalamus and cerebellum. Magnetic resonance imaging scans were evaluated in 436 sporadic Creutzfeldt–Jakob disease patients and 141 controls. The pattern of high signal intensity with the best sensitivity and specificity in the differential diagnosis of sporadic Creutzfeldt–Jakob disease was identified. The optimum diagnostic accuracy in the differential diagnosis of rapid progressive dementia was obtained when either at least two cortical regions (temporal, parietal or occipital) or both caudate nucleus and putamen displayed a high signal in fluid attenuated inversion recovery or diffusion-weight imaging magnetic resonance imaging. Based on our analyses, magnetic

    12. Clinical Significance of Microsatellite Instability in Sporadic Epithelial Ovarian Tumors

      OpenAIRE

      Yoon, Bo-Sung; Kim, Young-Tae; Kim, Jae-Hoon; Kim, Sang-Wun; Nam, Eun-Ji; Cho, Nam-Hoon; Kim, Jae-Wook; Kim, Sunghoon

      2008-01-01

      Purpose We evaluated the expression of microsatellite instability (MSI) in sporadic ovarian tumors using 5 standard and 9 new MSI markers to determine the clinical significance of MSI in sporadic epithelial ovarian tumors. Materials and Methods MSI was examined in 21 borderline and 25 malignant ovarian tumors. Polymerase chain reaction (PCR) was performed using the 5 markers recommended by the National Cancer Institute (NCI) for colon cancer and 9 additional markers. MSI was determined using ...

    13. Marx e a crítica à forma salário

      Directory of Open Access Journals (Sweden)

      Carlos Prado

      2011-09-01

      Full Text Available

      O objetivo desse artigo é descrever, a partir da leitura de “O Capital”, a crítica de Marx a forma salário. Tal categoria é fundamental para encobrir e mistificar as relações entre capital e trabalho. A partir de uma feroz crítica a Economia Política, Marx afirma que fetiche da forma salário cumpre a função de ocultar a apropriação da mais-valia pelo capitalista. Por conseguinte, trata-se de uma forma fundamental para a manutenção das relações capitalistas de produção.

    14. NAP and D-SAL: neuroprotection against the β amyloid peptide (1–42

      Directory of Open Access Journals (Sweden)

      Piltzer Inbar

      2008-12-01

      Full Text Available Abstract Introduction NAP (Asn-Ala-Pro-Val-Ser-Ile-Pro-Gln, single amino acid letter code, NAPVSIPQ, an eight amino acid neuroprotective peptide derived from activity-dependent neuroprotective protein (ADNP, exhibits some structural similarity to activity-dependent neurotropic factor-9 (ADNF-9; Ser-Alal-Leu-Leu-Arg-Ser-Ile-Pro-Ala, SALLRSIPA. Both peptides are also active in the all D-amino acid conformation, termed D-NAP and D-SAL. Original results utilizing affinity chromatography coupled to mass spectrometry identified tubulin, the subunit protein of microtubules, as the major NAP-associating protein in brain. The NAP-tubulin association was found to be diminished in the presence of ADNF-9, D-NAP, and D-SAL, suggesting a common target of neuroprotection. The β amyloid peptide interacts with microtubules, and previous studies have demonstrated protection against β amyloid (25–35 toxicity by NAP and ADNF-9. NAP also inhibits β amyloid (25–35 and 1–40 aggregation. Methods Cerebral cortical cultures derived from newborn rats were used in neuronal survival assays to test the activity of both NAP and D-SAL against the major Alzheimer's disease toxic peptide β amyloid (1–42. Results NAP and D-SAL protected cerebral cortical neurons against the major Alzheimer's disease toxic peptide β amyloid (1–42. Maximal protection of both peptides was observed at concentrations of 10-15 to 10-10 mol/l. Conclusion These findings, together with those of previous in vivo studies conducted in relevant Alzheimer's disease models, pave the path to drug development. Bioavailability studies indicated that NAP penetrates cells and crosses the blood-brain barrier after nasal or systemic administration. Phase II clinical trials of NAP are currently in progress by Allon Therapeutics Inc.

    15. Reparation and validation of a large size dried spike: Batch SAL-9951

      International Nuclear Information System (INIS)

      Doubek, N.; Jammet, G.; Zoigner, A.

      1991-02-01

      To determine uranium and plutonium concentration using isotope dilution mass spectrometry, weighed aliquands of a synthetic mixture containing about 2mg of Pu (with a 239 Pu abundance of about 98%) and 37mg of U (with a 235 U enrichment of about 19%) have been prepared by the IAEA-SAL and verified by three analytical laboratories: NMCC-SAL, OEFZS, IAEA-SAL; they will be used to spike samples of concentrated spent fuel solutions with a high burnup and a low 235 U enrichment. Certified Reference Materials Pu-NBL-126, natural U-NBL-112A and 93% enriched U-NBL-116 were used to prepare a stock solution containing about 3.2 mg/ml of Pu and 64.3 mg/ml of 18.7% enriched U. Before shipment to the Reprocessing Plant, aliquands of the stock solution are dried to give Large Size Dried (LSD) Spikes which resist shocks encountered during transportation, so that they can readily be recovered quantitatively at the plant. This paper describes the preparation and the validation of a fifth batch of LSD-spike which is intended to be used as a common spike by the plant operator, the national and the IAEA inspectorates. 7 refs, 6 tabs

    16. New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

      Science.gov (United States)

      Penco, Silvana; Buscema, Massimo; Patrosso, Maria Cristina; Marocchi, Alessandro; Grossi, Enzo

      2008-05-30

      Few genetic factors predisposing to the sporadic form of amyotrophic lateral sclerosis (ALS) have been identified, but the pathology itself seems to be a true multifactorial disease in which complex interactions between environmental and genetic susceptibility factors take place. The purpose of this study was to approach genetic data with an innovative statistical method such as artificial neural networks to identify a possible genetic background predisposing to the disease. A DNA multiarray panel was applied to genotype more than 60 polymorphisms within 35 genes selected from pathways of lipid and homocysteine metabolism, regulation of blood pressure, coagulation, inflammation, cellular adhesion and matrix integrity, in 54 sporadic ALS patients and 208 controls. Advanced intelligent systems based on novel coupling of artificial neural networks and evolutionary algorithms have been applied. The results obtained have been compared with those derived from the use of standard neural networks and classical statistical analysis Advanced intelligent systems based on novel coupling of artificial neural networks and evolutionary algorithms have been applied. The results obtained have been compared with those derived from the use of standard neural networks and classical statistical analysis. An unexpected discovery of a strong genetic background in sporadic ALS using a DNA multiarray panel and analytical processing of the data with advanced artificial neural networks was found. The predictive accuracy obtained with Linear Discriminant Analysis and Standard Artificial Neural Networks ranged from 70% to 79% (average 75.31%) and from 69.1 to 86.2% (average 76.6%) respectively. The corresponding value obtained with Advanced Intelligent Systems reached an average of 96.0% (range 94.4 to 97.6%). This latter approach allowed the identification of seven genetic variants essential to differentiate cases from controls: apolipoprotein E arg158cys; hepatic lipase -480 C/T; endothelial

    17. Salça Üretim Aşamalarına Göre Bakteri ve Maya Florasındaki Değişim ve Bozulmadaki Etkileri Üzerinde Araştırmalar

      Directory of Open Access Journals (Sweden)

      Vildan Uylaşer

      2015-02-01

      Full Text Available Bu çalışma salça üretim sanayiinde büyük bir sorun oluşturan ve bu nedenle ekonomik kayıplara yol açan mikrobiyolojik bozulmalara ışık tutması, bu bozulmaların etkileri olan mikroorganizmaların hangileri olduğu ve üretimin hangi aşamasında ne yoğunlukta bulunduklarının belirlenmesi amacıyla yapılmıştır. Bunun için iki farklı firmadan, salça üretiminin tüm aşamalarını kapsayacak şekilde örnekler alınarak hem mikrobiyolojik, kimyasal ve fiziksel analizler, hem de bakteri ve maya izolasyonları yapılmıştır. Analizler sonucu elde edilen bulgulara göre salça üretimi sırasında rastlanılan bakterilerin Bacillus, Lactobacillus, Listeria, Corynebacterium, Kurthia ve Streptococcus cinslerinin; mayaların ise Aureobasidium, Candida, Endomycopsis, Hansenula, Kloeckera, Saccharomyces, Torulopsis ve Trichrosporon cinslerinin temsilcileri oldukları belirlenmiştir. Bu mikroorganizmaların salça üretimi sırasında sayıca en fazla bulundukları aşamaların ise hammadde, yıkama sonrası, palper çıkışı ve 1. evaporasyon sonrası (1. efekt olduğu tespit edilmiştir. Ayrıca salça üretiminin 6 değişik aşamasından 2 üretim sezonunda 14 farklı zamanda alınan örneklerde kuru madde, briks, pH, asit tuz ve invert şeker analizleri yapılmış ve değişimleri izlenmiştir.

    18. Onset and spreading patterns of lower motor neuron involvements predict survival in sporadic amyotrophic lateral sclerosis.

      Science.gov (United States)

      Fujimura-Kiyono, Chieko; Kimura, Fumiharu; Ishida, Simon; Nakajima, Hideto; Hosokawa, Takafumi; Sugino, Masakazu; Hanafusa, Toshiaki

      2011-11-01

      To define patterns of spread through the order of lower motor neuron involvement (first, second or third order), relationships between interval or sites of affected areas from onset to involvement of a second region, and prognosis, including 5 year survival, normal preservation of motor function at onset of respiratory symptoms and cumulative occurrence of each region and direction of spread. 150 patients with sporadic amyotrophic lateral sclerosis (ALS) underwent follow-up at 3 month intervals until the appearance of respiratory symptoms. Symptom appearances were determined using the revised version of the ALS Functional Rating Scale. Median survival with combined type onset (two regions simultaneously) was shorter (18 months) than with bulbar onset (26 months, p=0.01). The interval from onset to involvement of the second region correlated significantly with survival, independent of particular combinations. 5 year survival rate was 21% for lower limb onset, 18% for upper limb onset and 16% for bulbar onset. No patient with a rapid spread pattern (two regions within 3 months from onset) survived >5 years. Early manifestations of bulbar symptoms within 1 year were associated with worse survival (pspread longitudinally to adjacent regions. Bulbar function remained preserved in 27%, lower limb function in 10% and upper limb function in 2.7%. The interval between onset and involvement of the second region is an important predictor of survival. The data support the contiguous anatomical propagation of lower motor neuron involvement in sporadic ALS.

    19. Geographical and seasonal correlation of multiple sclerosis to sporadic schizophrenia

      Directory of Open Access Journals (Sweden)

      Fritzsche Markus

      2002-12-01

      Full Text Available Abstract Background Clusters by season and locality reveal a striking epidemiological overlap between sporadic schizophrenia and multiple sclerosis (MS. As the birth excesses of those individuals who later in life develop schizophrenia mirror the seasonal distribution of Ixodid ticks, a meta analysis has been performed between all neuropsychiatric birth excesses including MS and the epidemiology of spirochaetal infectious diseases. Results The prevalence of MS and schizophrenic birth excesses entirely spares the tropical belt where human treponematoses are endemic, whereas in more temperate climates infection rates of Borrelia garinii in ticks collected from seabirds match the global geographic distribution of MS. If the seasonal fluctuations of Lyme borreliosis in Europe are taken into account, the birth excesses of MS and those of schizophrenia are nine months apart, reflecting the activity of Ixodes ricinus at the time of embryonic implantation and birth. In America, this nine months' shift between MS and schizophrenic births is also reflected by the periodicity of Borrelia burgdorferi transmitting Ixodes pacificus ticks along the West Coast and the periodicity of Ixodes scapularis along the East Coast. With respect to Ixodid tick activity, amongst the neuropsychiatric birth excesses only amyotrophic lateral sclerosis (ALS shows a similar seasonal trend. Conclusion It cannot be excluded at present that maternal infection by Borrelia burgdorferi poses a risk to the unborn. The seasonal and geographical overlap between schizophrenia, MS and neuroborreliosis rather emphasises a causal relation that derives from exposure to a flagellar virulence factor at conception and delivery. It is hoped that the pathogenic correlation of spirochaetal virulence to temperature and heat shock proteins (HSP might encourage a new direction of research in molecular epidemiology.

    20. D-SAL and NAP: Two Peptides Sharing a SIP Domain.

      Science.gov (United States)

      Gozes, Illana; Sragovich, Shlomo; Schirer, Yulie; Idan-Feldman, Anat

      2016-06-01

      NAPVSIPQ (NAP) and all D-amino acid SALLRSIPA (D-SAL) are neuroprotective peptides derived from activity-dependent neuroprotective protein (ADNP) and activity-dependent neurotrophic factor (ADNF), respectively. Both proteins were shown to protect against cognitive impairment, using different animal models and to increase neuronal survival following exposure to neurotoxins. NAP was extensively tested and found to increase microtubule stability, protect axonal transport, and inhibit apoptosis. Here, we aimed to further evaluate and correlate effects at the behavioral level, in a rat model of diabetes. Diabetes is primarily a metabolic disorder which presents secondary neurological manifestations. Diabetes induces peripheral nervous system damage which is translated into impaired sensory perception and is termed diabetic neuropathy. Diabetes-related central nervous system damage causes cognitive decline. The behavioral study aimed to evaluate the effect of NAP and D-SAL on peripheral neuropathy and cognitive decline. Peripheral neuropathy was tested by measuring the response to a thermal stimulus, and cognitive ability was measured by a social memory test and a spatial memory test using long- and short-term dependent tasks and a reference memory task. Results indicated an immediate sensory neuropathy in the diabetic model, which was prevented by both peptides and a later neuropathic phase, prevented only by NAP treatment. Cognitive tests revealed impaired performance in both social and spatial memory tests in the diabetes model. Each of the peptides improved different aspects of cognitive behavior, with NAP being more potent than D-SAL. Mechanistically, both NAP and SAL contain a SIP (SxIP) domain that has been shown to interact with microtubule end-binding proteins (EBs). Specifically, we have previously shown a direct interaction of NAP with EB1 and EB3; we have further shown an interaction of the NAP-derived 4 amino acid SKIP peptide with EB3, stimulating axonal

    1. [The primary evaluation of Sal-Ammoniac extract on the therapy action in mice bearing Lewis lung cancer].

      Science.gov (United States)

      Han, Xiao-Fen; Du, Gang-Jun; Lin, Hai-Hong; Song, Zi-Hui; Wang, Mei; Zhang, Shuo

      2008-02-01

      To evaluate the therapy action of Sal-Ammoniac extract on Lewis lung cancer and its toxicity to immunity. The proliferation and cell cycle of Lewis lung cancer cells were determined by MTT assay and flow cytometry respectively. The antitumor effect of Sal-Ammoniac extract was observed by tumor injected subcutaneously in mice and its toxicity to immunity was examined by clearance rate of charcoal particles and delayed type hypersensitivity. Sal-Ammoniac extract could inhibit the proliferation of Lewis lung cancer cells with S cell cycle arrest in a dose-dependent manner in vitro. Sal-Ammoniac extract solution injected in tumor for eight days had 46.7% inhibition on Lewis lung cancer, if taken orally had only 15.7% inhibition on Lewis lung cancer in mice. Sal-Ammoniac extract solution injected subcutaneously or taken orally had no effect on the clearance rate of charcoal particles and delayed type hypersensitivity in mice. The antitumor action of Sal-Ammoniac extract has relation to its recipe and has no influence on immunity.

    2. Unraveling ALS due to SOD1 mutation through the combination of brain and cervical cord MRI.

      Science.gov (United States)

      Agosta, Federica; Spinelli, Edoardo Gioele; Marjanovic, Ivan V; Stevic, Zorica; Pagani, Elisabetta; Valsasina, Paola; Salak-Djokic, Biljana; Jankovic, Milena; Lavrnic, Dragana; Kostic, Vladimir S; Filippi, Massimo

      2018-02-20

      To explore structural and functional changes of the brain and cervical cord in patients with amyotrophic lateral sclerosis (ALS) due to mutation in the superoxide dismutase ( SOD1 ) gene compared with sporadic ALS. Twenty patients with SOD1 ALS, 11 with sporadic ALS, and 33 healthy controls underwent clinical evaluation and brain MRI. Cortical thickness analysis, diffusion tensor MRI of the corticospinal tracts (CST) and corpus callosum, and resting-state functional connectivity were performed. Patients with ALS also underwent cervical cord MRI to evaluate cord cross-sectional area and magnetization transfer ratio (MTR). Patients with SOD1 ALS showed longer disease duration and slower rate of functional decline relative to those with sporadic ALS. No cortical thickness abnormalities were found in patients with ALS compared with controls. Fractional anisotropy showed that sporadic ALS patients had significant CST damage relative to both healthy controls ( p = 0.001-0.02) and SOD1-related ALS ( p = 0.05), although the latter showed alterations that were intermediate between controls and sporadic ALS. Functional hyperconnectivity of the motor cortex in the sensorimotor network was observed in patients with sporadic ALS relative to controls. Conversely, patients with SOD1 ALS showed lower cord cross-sectional area along the whole cervical cord relative to those with sporadic ALS ( p ALS showed cervical cord atrophy relative to those with sporadic ALS and a relative preservation of brain motor structural and functional networks. Neurodegeneration in SOD1 ALS is likely to occur primarily in the spinal cord. An objective and accurate estimate of spinal cord damage has potential in the future assessment of preventive SOD1 ALS therapies. © 2018 American Academy of Neurology.

    3. Investigación: La historia de la sal en México, las salinas de Cuyutlán y el caso de la cooperativa de salineros de Colima

      Directory of Open Access Journals (Sweden)

      Oriana Zaret Gaytán Gómez

      2015-11-01

      Full Text Available En México, y en muchos lugares del mundo, existen productores artesanales que extraen sal de maneras casi tan autóctonas como lo hicieron nuestros antepasado prehispánicos. En este trabajo se pretende exponer el caso de una cooperativa ubicada en la región de Cuyutlán, en el Estado de Colima, que, si bien ya ha implementado algunas innovaciones, aún sigue utilizando el trabajo intensivo para poder llevar a cabo la extracción de la sal. Conoceremos un poco de la historia de la cooperativa, de los conflictos que enfrentó durante su constitución y a lo largo de toda su existencia. Asimismo, se abordará el tema de la cultura regional que ha emergido alrededor de ella. Antes de exponer dicha situación, se presentará un panorama general de lo que ha sido la historia de la sal en México antes y después de la llegada de los españoles, durante el México independiente y la Revolución, hasta llegar a la situación actual; ello con el fin de contextualizar la investigación y poner en antecedentes al lector de la importancia de este mineral en la historia de nuestro país. Para finalizar el trabajo, se expondrá la realidad presente y pasada de las salinas de la Costa de Colima para con ello exponer la pertinencia de estudiar a mayor profundidad el fenómeno de explotación de la sal a través de dicha sociedad, la cual el 1º de enero de 2015 cumplió 90 años de existencia.

    4. Microcrustáceos y Vibrio cholerae O1 viable no cultivable (VNC: resultados en la Cuenca del Río Salí, Tucumán, Argentina Microcrustaceans and viable but nonculturable (VNC Vibrio cholerae O1: results in the Salí River basin, Tucumán, Argentina

      Directory of Open Access Journals (Sweden)

      Cecilia Locascio de Mitrovich

      2010-01-01

      Full Text Available Vibrio cholerae reside habitualmente en aguas marinas y continentales. Según las condiciones ambientales y los recursos le sean “favorables” o “desfavorables”, se generan estados viables cultivables (VC o viables no cultivables (VNC respectivamente y, bajo esta última forma sobrevive. Para abordar la problemática del cólera en la Cuenca del Río Salí (Tucumán, Argentina, se realizaron muestreos durante los años 2003-2005 donde se consideraron aspectos fisicos, químicos, biológicos y sanitarios. Para evaluar los probables reservorios del patógeno, se analizó el zooplancton del Río Salí (Canal Norte y Banda Río Salí y Río Lules. La mayor representatividad taxonómica la registraron los copépodos, especialmente Eucyclops neumani (Pesta, 1927, junto a Acanthocyclops robustus (Sars, 1863, Metacyclops sp., Paracyclops chiltoni y Notodiaptomus incompositus (Brian, 1925, además de algunos rotíferos y cladóceros como (Lecane sp., y (Brachionus sp., Moina sp. y Leydigia sp.. La frecuencia de ocurrencia fue baja y no superó el 25%. El Canal Norte fue ambiente más propicio por la riqueza específica, abundancia y constancia de la comunidad. Las variables fisicas y químicas asociadas al zooplancton coincidirían con los valores que por nuestros registros y los antecedentes, se conocen para el desarrollo del patógeno. En el período estival hubo coincidencia entre la presencia de la forma VNC de V. cholerae O1 (inmunofluorescencia con anticuerpos anti O1 y el desarrollo del zooplancton. Se observaron formas VNC sobre apéndices o estructuras de copépodos ciclopoideos y cladóceros quidóridos, reflejando probablemente afinidad con sustratos quitinosos.Vibrio cholerae habitually lives in marine and continental waters. According to "favourable" or "unfavourable" resources and environmental conditions, viable (VC or viable non-culturable (VNC states will be generated, surviving only the latter form. To address the problem of

    5. A specific superoxide dismutase mutation is on the same genetic background in sporadic and familial cases of amyotrophic lateral sclerosis

      Energy Technology Data Exchange (ETDEWEB)

      Hayward, C.; Brock, D.J.H. [Univ. of Edinburgh (United Kingdom); Swingler, R.J. [Dundee Royal Infirmary (United Kingdom)] [and others

      1996-11-01

      Amyotrophic lateral sclerosis (ALS) is a degenerative disease of motor neurons, causing progressive muscular atrophy, weakness, and death from respiratory failure, often within 2-3 years. Although most cases are sporadic, some 5%-10% are inherited as autosomal dominants with age-dependent penetrance. An ALS locus has been mapped to chromosome 21q, and causative mutations identified in the Cu/Zn superoxide dismutase (SOD1) gene. A majority of SOD1 mutations have been found in cases with a clear family history of ALS. However, we and others have also described SOD1 mutations in patients where the disease appears to be sporadic. This is especially true for the missense mutation in codon 113 of the SOD1 gene, which substitutes threonine for isoleucine (I113T). One explanation for this finding is that this codon is a mutational hot spot with sporadic cases representing new mutations. Another is that the inherited nature of the cases is disguised by the reduced penetrance of this specific mutation. We have now shown that each of six unrelated cases of I113T mutation that we have collected in the Scottish population occurs on the same genetic background. Association analysis of multiple flanking loci on chromosome 21q supports the conclusion of a founder effect, with the original mutational event occurring {ge}10 generations ago. 12 refs., 1 fig., 1 tab.

    6. A recombinant Sal k 1 isoform as an alternative to the polymorphic allergen from Salsola kali pollen for allergy diagnosis.

      Science.gov (United States)

      Mas, Salvador; Boissy, Patrice; Monsalve, Rafael I; Cuesta-Herranz, Javier; Díaz-Perales, Araceli; Fernández, Javier; Colás, Carlos; Rodríguez, Rosalía; Barderas, Rodrigo; Villalba, Mayte

      2015-01-01

      The incidence of Amaranthaceae pollen allergy has increased due to the desertification occurring in many countries. In some regions of Spain, Salsola kali is the main cause of pollinosis, at almost the same level as olive and grass pollen. Sal k 1 - the sensitization marker of S. kali pollinosis - is used in clinical diagnosis, but is purified at a low yield from pollen. We aimed to produce a recombinant (r)Sal k 1 able to span the structural and immunological properties of the natural isoforms from pollen, and validate its potential use for diagnosis. Specific cDNA was amplified by PCR, cloned into the pET41b vector and used to transform BL21 (DE3) Escherichia coli cells. Immunoblotting, ELISA, basophil activation and skin-prick tests were used to validate the recombinant protein against Sal k 1 isolated from pollen. Sera and blood cells from S. kali pollen-sensitized patients and specific monoclonal and polyclonal antisera were used. rSal k 1 was produced in bacteria with a yield of 7.5 mg/l of cell culture. The protein was purified to homogeneity and structural and immunologically validated against the natural form. rSal k 1 exhibited a higher IgE cross-reactivity with plant-derived food extracts such as peanut, almond or tomato than with pollen sources such as Platanus acerifolia and Oleaceae members. rSal k 1 expressed in bacteria retains intact structural and immunological properties in comparison to the pollen-derived allergen. It spans the immunological properties of most of the isoforms found in pollen, and it might substitute natural Sal k 1 in clinical diagnosis. © 2015 S. Karger AG, Basel.

    7. Similar phenotype characteristics comparing familial and sporadic premature ovarian failure.

      Science.gov (United States)

      Janse, Femi; Knauff, Erik A H; Niermeijer, Martinus F; Eijkemans, Marinus J; Laven, Joop S E; Lambalk, Cornelius B; Fauser, Bart C J M; Goverde, Angelique J

      2010-07-01

      Premature ovarian failure (POF) is characterized by secondary amenorrhea before the age of 40 years, along with repeated increased follicle-stimulating hormone and low estrogen concentrations. POF is considered a complex genetic disease with a familial presentation in 12% to 50% of cases. POF may originate from different genes and various gene-environment interactions. The aim of this study was to identify possible differences in phenotype comparing women with familial and women with sporadic POF. A multicenter study was initiated in the Netherlands using standardized phenotyping. For each woman, medical history, menstrual cycle, and fertility and smoking status were assessed and a standardized examination was performed. Based on a detailed three-generation family history, women were identified as having either familial (defined as having at least one relative with POF) or sporadic POF. A total of 58 familial cases and 142 sporadic cases of POF were identified. Maternal age at menopause was significantly lower in the women with familial compared with the women with sporadic POF (41.0 +/- 7.5 and 49.7 +/- 2.6 y, respectively; P hormone-binding globulin concentration was significantly higher in the women with familial than in the women with sporadic POF (73.6 +/- 37.1 and 55.2 +/- 26.9 nmol/L, respectively; P = 0.002). All other characteristics, such as parity, bone mineral density, and serum follicle-stimulating hormone and lipid levels were similar, as was the incidence of autoimmunity and cytogenetic abnormalities. Familial and sporadic POF do not differ in phenotype except for maternal menopause age and sex hormone-binding globulin concentration. Future studies are needed to unravel the genotype-phenotype interactions in POF.

    8. Changements climatiques et infiltrations d'eau salée le long du ...

      International Development Research Centre (IDRC) Digital Library (Canada)

      La Méditerranée orientale est très exposée aux infiltrations d'eau salée dans les aquifères (qui contiennent de l'eau douce) se trouvant sur son littoral. La dégradation des aquifères pourrait entraîner de graves conséquences socioéconomiques pour les personnes qui vivent en ces lieux. Le projet consistera à étudier ...

    9. Sal die ‘ewolusie’ vanaf biologie na lewenswetenskappe ‘uitsterwing’ van die vakgebied voorkom?

      Directory of Open Access Journals (Sweden)

      Johanna G. Ferreira

      2012-03-01

      Full Text Available In hierdie artikel word die wysiging van die skoolvak van ‘biologie’ na ‘lewenswetenskappe’ bespreek, asook die gepaardgaande en verwagte implikasies van die verandering. Die vraag word gestel of die beoogde wysiging wel noemenswaardig is en of dit enigsins ‘n verskil aan die dalende belangstelling in die lewenswetenskappe op tersiêre vlak sal maak. Die wysigings in die nuwe kurrikula verhoog die relevansie van die vakinhoud vir leerders en vir die gemeenskap, maar sekere kwessies kry nie aandag nie. Voorstelle word gemaak om die kurrikulum te wysig en onderrigmetodes aan te pas om die nodige vaardighede by leerders te vestig.

    10. Variante CA-135 Cabezón de la Sal-Comillas

      OpenAIRE

      Martínez Uslé, Sara

      2015-01-01

      RESUMEN: El proyecto que se presenta es una variante de carretera autonómica, realizada en el término municipal de Comillas, que permite solucionar los problemas de paso y acceso reconduciendo el tráfico fuera del núcleo urbano. La variante se unirá mediante dos glorietas a las actuales carreteras CA-135, que cumple funciones de acceso desde Cabezón de la Sal a Comillas y la CA-131, que canaliza tráficos costeros que presentan puntas muy acusadas durante los fines de semana y en época esti...

    11. Consumo e digestibilidade de nutrientes em ovinos alimentados com sal forrageiro de faveleira (Cnidoscolus phyllacanthus)

      OpenAIRE

      OLIVEIRA,Fernanda Melo de; OLIVEIRA,Gabriel Jorge Carneiro de; OLIVEIRA,Marcos Lemos Andrade de; JAEGER,Soraya Maria Palma Luz; ALMEIDA,Luiz Henrique Silva; NERY,Igor Bomfim Quadros; LEITE,Laudi Cunha

      2016-01-01

      RESUMO Objetivou-se com este estudo avaliar o consumo e a digestibilidade aparente dos nutrientes em ovinos alimentados com sal forrageiro de faveleira (Cnidoscolus phyllacanthus) com níveis crescentes de cloreto de sódio na sua composição. Foram utilizados 25 carneiros, sem padrão racial definido, não castrados, alocados em baias individuais, distribuídos em um delineamento experimental inteiramente casualizado, com cinco tratamentos e cinco repetições. As dietas que continham 1, 3, 5 e 7% d...

    12. Mobility Analysis of the Population of Rabat-Salé-Zemmour-Zaer

      OpenAIRE

      F. Ghaiti

      2007-01-01

      In this paper, we present the 2006 survey study origin destination and price that we carried out during 2006 fall in the area in the Moroccan region of Rabat-Salé-Zemmour-Zaer. The survey concerns the people-s characteristics, their displacements behavior and the price that they will be able to pay for a tramway ticket. The main objective is to study a set of relative features to the households and to their displacement's habits and to their choices among public and privet transport modes. A ...

    13. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

      NARCIS (Netherlands)

      van Es, Michael A.; Veldink, Jan H.; Saris, Christiaan G. J.; Blauw, Hylke M.; van Vught, Paul W. J.; Birve, Anna; Lemmens, Robin; Schelhaas, Helenius J.; Groen, Ewout J. N.; Huisman, Mark H. B.; van der Kooi, Anneke J.; de Visser, Marianne; Dahlberg, Caroline; Estrada, Karol; Rivadeneira, Fernando; Hofman, Albert; Zwarts, Machiel J.; van Doormaal, Perry T. C.; Rujescu, Dan; Strengman, Eric; Giegling, Ina; Muglia, Pierandrea; Tomik, Barbara; Slowik, Agnieszka; Uitterlinden, Andre G.; Hendrich, Corinna; Waibel, Stefan; Meyer, Thomas; Ludolph, Albert C.; Glass, Jonathan D.; Purcell, Shaun; Cichon, Sven; Nöthen, Markus M.; Wichmann, H.-Erich; Schreiber, Stefan; Vermeulen, Sita H. H. M.; Kiemeney, Lambertus A.; Wokke, John H. J.; Cronin, Simon; McLaughlin, Russell L.; Hardiman, Orla; Fumoto, Katsumi; Pasterkamp, R. Jeroen; Meininger, Vincent; Melki, Judith; Leigh, P. Nigel; Shaw, Christopher E.; Landers, John E.; Al-Chalabi, Ammar; Brown, Robert H.; Robberecht, Wim; Andersen, Peter M.; Ophoff, Roel A.; van den Berg, Leonard H.

      2009-01-01

      We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P <1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide

    14. Sporadic potassium layers and their connection to sporadic E layers in the mesopause region at Beijing, China

      Directory of Open Access Journals (Sweden)

      Jing Jiao

      2017-06-01

      Full Text Available A double-laser beam lidar to measure potassium (K layer at Beijing (40.5° N, 116.2° E was successfully developed in 2010. The parameters of sporadic Ks layers and their distributions were given. The seasonal distribution of Ks occurrence frequency was obtained, with two maxima in July and January. The seasonal distributions of sporadic Es layer occurrence frequency over Beijing differ from those of Ks. However, the good correlation between Es and Ks in the case-by-case studies supports the mechanism of neutralization of metal ions in a descending Es layer.

    15. A influência da dança de salão na percepção corporal The ballroomdance influence in body perception

      Directory of Open Access Journals (Sweden)

      Cristiane Costa Fonseca

      2012-03-01

      Full Text Available A dança de salão é uma forma de expressão dos sentimentos através dos movimentos. Os casais devem perceber as suas possibilidades de ação motora e o espaço disponível para interagir com o outro organizando seu corpo em um padrão espacial. Esses fatores combinados com o resgate das emoções despertadas pela dança tornam a prática potencializadora de alterações positivas na relação mente-corpo modificando a percepção corporal, tanto no seu aspecto proprioceptivo (esquema corporal, como emocional (imagem corporal. O objetivo desse estudo foi discutir a dança de salão e sua contribuição na percepção corporal dos seus praticantes. Para isso foi realizada de uma pesquisa bibliográfica de caráter descritivo e abordagem qualitativa. Sendo assim, concluímos que além da técnica na dança é necessário, também, saber utilizar os recursos como uma ferramenta e não como uma "prisão". A beleza da dança de salão é resultado do equilíbrio entre a técnica e emoções do dançarino.Ballroomdance is a feeling expression through the movements. Couples should realize their potential motor action and space available to interact appropriately one with the others leading to a correct organization of their bodies in space. Dancing with a partner, exploring perceptual diversity together, bringing the emotions aroused in a musical rhythm, makes this practice responsible for positive changes in the relationship between mind and body, modifying the body perception, both in proprioceptive (body schema, as in emotional (body image aspects. The aim of this study was to discuss the dance and its contribution to the body perception of its practitioners. The study included a descriptive review of the literature with a qualitative approach consideration. However, more than learning the dance technique is necessary to know how to use these resources as a tool and not as a "prison." The beauty of ballroomdance achieves a balance between

    16. Compassar e urdir: a construção de um intercâmbio através dos dois primeiros SAL

      Directory of Open Access Journals (Sweden)

      Gisela Barcellos de Souza

      2011-12-01

      Full Text Available O presente artigo aborda a constituição de encontros culturais cuja concretização ocorre em momentos precisos e depende do engajamento direto dos agentes envolvidos. Enfoca-se, em específico, o processo de construção de um intercâmbio que ocorreu de forma programática ao longo de dez anos e marcou profundamente a cultura arquitetônica latino-americana, nos anos 80-90: os Seminários de Arquitetura Latino-americana (SAL. As tentativas de explicação para o surgimento dos SAL enfatizam, frequentemente, a existência de múltiplas origens. Se, por um lado, a afirmação dessas procedências diversas busca ressaltar a devida contribuição de cada um dentre os países envolvidos, por outro, essa incide, também, no risco de fazer parecer que o surgimento dos seminários seja obra de uma conjuntura fortuita, fruto do somatório de uma série de experiências isoladas e de coincidências. O objetivo deste artigo é demonstrar que, a essas contribuições e origens diversas, soma-se, também, a atuação direta de um grupo de críticos engajados na construção desses seminários. Ou seja, busca-se, ao longo deste texto, explicitar a existência de um trabalho operativo, empenhado por alguns dos personagens à frente dos dois primeiros seminários, que visou dotar de sentido e coerência as supracitadas experiências, inicialmente desconexas. Para tanto, o presente artigo coloca em foco - para além das múltiplas origens - a atuação de personagens em específico, bem como as estratégias e os dispositivos diversos que, combinados, promoveram a conversão de interesses múltiplos em uma pauta de reflexão comum. O recorte temporal aqui abordado abrange desde os primeiros ensaios de intercâmbios até o II SAL, momento em que o trabalho operativo de construção de uma pauta comum parece completado.

    17. Etkin Piyasalar Hipotezi ve Davranışsal Finans Çatışması(A Conflict Beetween The Efficient Market Hypothesis and Behavioral Finance

      Directory of Open Access Journals (Sweden)

      İhsan Kulali

      2016-03-01

      Full Text Available Etkin piyasalar hipotezi (EPH, çoğu finansal iktisatçı tarafından yaygın şekilde kabul görmektedir. Modeli savunanlar sermaye piyasalarının, hisse senedi fiyatlarının ilgili elde edilebilir tüm bilgileri yansıtması nedeniyle, etkin olduğuna inanmaktadır. Yeni bir bilgi ortaya çıktığı zaman, haberler anında yayılmakta ve hisse senedi fiyatlarına gecikmeksizin yansımaktadır. Bu görüşe göre hisse senetlerinin gelecek fiyatlarının tahmini için teknik ve temel analize ihtiyaç bulunmamaktadır çünkü hiçbir yatırımcının piyasayı yenmesi ve aşırı kar elde etmesi mümkün değildir. Model, bütün yatırımcıların rasyonel ve faydalarını maksimize etmeye çalışan kişiler olduğunu varsaymaktadır. Yirminci yüzyılın başlarında davranışsal finans gündeme gelmiştir. Birçok finansal iktisatçı hisse senedi fiyatlarının en azında belirli ölçülerde tahmin edilebilir olduğuna inanmaktadır. Pek çok piyasa anomalisi ise psikolojik ve davranışsal faktörler ile açıklanmaktadır. Davranışsal finans yatırımcıları rasyonel değil normal olarak kabul etmektedir. Buna göre piyasa balonları ve krizler bilişsel ön yargılardan kaynaklanmaktadır.

    18. Brain sonography in African infants with complicated sporadic ...

      African Journals Online (AJOL)

      Background: To determine the structural findings in brain sonography of African infants with complicated sporadic bacterial meningitis. Materials and Methods: Retrospective assessment of medical records of patients who underwent brain sonography on account of complicated bacterial meningitis. The brain sonography ...

    19. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

      NARCIS (Netherlands)

      I. Zerr; K. Kallenberg; D.M. Summers; C. Romero; A. Taratuto; U. Heinemann; M. Breithaupt; D. Varges; B. Meissner; A. Ladogana (Anna); M. Schuur (Maaike); S. Haik; S.J. Collins (Steven); G.H. Jansen (Gerard); G.B. Stokin; J. Pimentel; E. Hewer; D. Collie; P. Smith; H. Roberts; J.P. Brandel; P. Tikka-Kleemola (Päivi); M. Pocchiari (Maurizio); C. Begue; P. Cras (Patrick); R.G. Will; P. Sanchez-Juan (Pascual)

      2009-01-01

      textabstractSeveral molecular subtypes of sporadic Creutzfeldt-Jakob disease have been identified and electroencephalogram and cerebrospinal fluid biomarkers have been reported to support clinical diagnosis but with variable utility according to subtype. In recent years, a series of publications

    20. Comparing Sporadic and Outbreak-associated Foodborne Illness

      Centers for Disease Control (CDC) Podcasts

      2016-11-04

      Dr. Eric Ebel, a veterinarian and risk analyst with USDA’s Food Safety and Inspection Service, discusses his article on sporadic and outbreak-associated cases of foodborne illness.  Created: 11/4/2016 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 11/4/2016.

    1. Prevalence of Abnormal Cervical Smears from Sporadic Screening ...

      African Journals Online (AJOL)

      The aim of the study was to find the prevalence of abnormal smears in an unscreened population of sexually active women attending a gynaecological clinic. “Pap” smears were taken sporadically for cytological examination from sexually active women attending gynaecological clinics at the Federal Medical Centre Gombe.

    2. Legionnaires’ Disease: Clinicoradiological Comparison of Sporadic Versus Outbreak Cases

      Directory of Open Access Journals (Sweden)

      Hafiz Rizwan Talib Hashmi

      2017-06-01

      Full Text Available Background: In 2015, New York City experienced the worst outbreak of Legionnaires’ disease in the history of the city. We compare patients seen during the 2015 outbreak with sporadic cases of Legionella during the past 5 years. Methods: We conducted a retrospective chart review of 90 patients with Legionnaires’ disease, including sporadic cases of Legionella infection admitted from 2010 to 2015 (n = 55 and cases admitted during the 2015 outbreak (n = 35. Results: We saw no significant differences between the 2 groups regarding demographics, smoking habits, alcohol intake, underlying medical disease, or residence type. Univariate and multivariate analyses showed that patients with sporadic case of Legionella had a longer stay in the hospital and intensive care unit as well as an increased stay in mechanical ventilation. Short-term mortality, discharge disposition, and most clinical parameters did not differ significantly between the 2 groups. Conclusions: We found no specific clinicoradiological characteristics that could differentiate sporadic from epidemic cases of Legionella . Early recognition and high suspicion for Legionnaires’ disease are critical to provide appropriate treatment. Cluster of cases should increase suspicion for an outbreak.

    3. Cyclin D1 genotype and expression in sporadic hemangioblastomas.

      NARCIS (Netherlands)

      Gijtenbeek, J.M.M.; Sprenger, S.H.E.; Franke, B.; Wesseling, P.; Jeuken, J.W.M.

      2005-01-01

      Central nervous system (CNS) hemangioblastomas are highly-vascularized tumors occurring in sporadic form or as a manifestation of von Hippel-Lindau disease (VHL). The VHL protein (pVHL) regulates various target genes, one of which is the CCND1 gene, encoding cyclin D1, a protein that plays a

    4. Dyschromatosis symmetrica hereditaria: Report of a sporadic case ...

      African Journals Online (AJOL)

      ... hands and feet, with no family history of similar lesions. The diagnosis was confirmed by the typical histologic finding of basal hyperpigmentation with normal number of melanocytes and absence of melanin incontinence from a hyperpigmented lesion. Keywords: DyschromatosisSymmetricaHereditaria, Nigerian, Sporadic ...

    5. Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy

      NARCIS (Netherlands)

      Visser, J.; de Visser, M.; van den Berg-Vos, R. M.; van den Berg, L. H.; Wokke, J. H. J.; de Jong, J. M. B. V.; Franssen, H.

      2008-01-01

      Objective We present the electrophysiologic data at baseline of 37 patients who were included in our prospective study on sporadic adult-onset progressive muscular atrophy (PMA). The aim was to correlate electrophysiological. signs of lower motor neuron (LMN) loss with clinical signs of LMN loss,

    6. Clinicopathologic factors identify sporadic mismatch repair-defective colon cancers

      DEFF Research Database (Denmark)

      Halvarsson, Britta; Anderson, Harald; Domanska, Katarina

      2008-01-01

      Identification of sporadic mismatch repair (MMR)-defective colon cancers is increasingly demanded for decisions on adjuvant therapies. We evaluated clinicopathologic factors for the identification of these prognostically favorable tumors. Histopathologic features in 238 consecutive colon cancers...... and excluded 61.5% of the tumors from MMR testing. This clinicopathologic index thus successfully selects MMR-defective colon cancers. Udgivelsesdato: 2008-Feb...

    7. [The practice guideline 'Dermatomyositis, polymyositis and sporadic inclusion body myositis'

      NARCIS (Netherlands)

      Hoogendijk, J.E.; Bijlsma, J.W.J.; Engelen, B.G.M. van; Lindeman, E.J.M.; Royen-Kerkhof, A. van; Rie, M.A. de; Visser, M. de; Jennekens, F.G.I.

      2005-01-01

      This guideline presents recommendations for the diagnosis and treatment of dermatomyositis, polymyositis and sporadic inclusion body myositis (sIBM) according to the best available evidence. Characteristic skin abnormalities can be sufficient for the diagnosis of dermatomyositis. In case of doubt, a

    8. Litter decomposing fungi in sal (Shorea robusta forests of central India

      Directory of Open Access Journals (Sweden)

      RAM KEERTI VERMA

      2011-11-01

      Full Text Available Soni KK, Pyasi A, Verma RK. 2011. Litter decomposing fungi in sal (Shorea robusta forests of central India. Nusantara Bioscience 3: 136-144. The present study aim on isolation and identification of fungi associated with decomposition of litter of sal forest in central India. Season wise successional changes in litter mycoflora were determined for four main seasons of the year namely, March-May, June-August, September-November and December-February. Fungi like Aspergillus flavus, A. niger and Rhizopus stolonifer were associated with litter decomposition throughout the year, while Aspergillus fumigatus, Cladosporium cladosporioides, C. oxysporum, Curvularia indica, and C. lunata were recorded in three seasons. Some fungi including ectomycorrhiza forming occur only in the rainy season (June-August these are Astraeus hygrometricus, Boletus fallax, Calvatia elata, Colletotrichum dematium, Corticium rolfsii, Mycena roseus, Periconia minutissima, Russula emetica, Scleroderma bovista, S. geaster, S. verrucosum, Scopulariopsis alba and four sterile fungi. Fungi like Alternaria citri, Gleocladium virens, Helicosporium phragmitis and Pithomyces cortarum were rarely recorded only in one season.

    9. Fodder salt fed to small ruminants Sal forrageiro para pequenos ruminantes

      Directory of Open Access Journals (Sweden)

      Gabriel Jorge Carneiro de Oliveira

      2010-07-01

      Full Text Available The price of the products used for animal supplementation and the existence of a rich native flora of eudicotyledon forage, drove the idea for develop a technique feed supplementation aiming improve livestock yield levels in the semiarid zone. The fodder salt technique has been developed by the Tropical Zootechnical Rsearch Group at the Centro de Ciências Agrárias Ambientais e Biológicas da Universidade Federal do Recôncavo da Bahia (CCAAB/UFRB. Defined as a mixture of mineral salt and ground eudocotyledon forage hay, among them, some xerophitas species, the"fodder salt" consisting to a low cost technique with high applicability potential for ruminant production in semiarid environment. The salt controls consumption, for it facilitates the offer of eudicotyledon hay. When added to the mixture, it becomes salty, and the animals ingest it slowly and repeatedly. This behavior results in a reduction of feed intake, in less fighting among animals, and allows a better even distribution of feed for all of them. The researches on "fodder salt" have presented satisfactory responses of animal performance, and without doubt, this technique facilitates feed management and increases herd yield.O custo dos insumos utilizados na suplementação alimentar e a riqueza do semiárido em forrageiras eudicotiledoneas de bom valor nutritivo despertaram a idéia de desenvolver tecnologias adaptadas às condições tropicais semiáridas. O sal forrageiro é uma tecnologia que está sendo desenvolvida pelo grupo de pesquisa em Zootecnia Tropical (CNPq, do Centro de Ciências Agrárias Ambientais e Biológicas da Universidade Federal do Recôncavo da Bahia (CCAAB/UFRB. Definido como uma mistura de sal mineral com feno moído de forrageiras eudicotiledôneas, dentre elas algumas espécies vegetais xerófilas, o sal forrageiro consiste em uma tecnologia de baixo custo, com grande potencial de aplicação no sistema de produção de ruminantes. Nesta técnica, o sal

    10. Lucernas romanas de Alcácer do Sal. Entre a prática e o sagrado.

      OpenAIRE

      Pereira, Carlos

      2013-01-01

      Estudo de lucernas romanas provenientes de Alcácer do Sal (Salacia), importante para a compreensão dos padrões e volumes de importação e consumo destas peças, em contexto funcional, ritual ou funerário. Analisam-se comparativamente dois contextos arqueológicos, que não representam a totalidade de cerâmicas de iluminação recolhidas em Alcácer do Sal, mas dão a conhecer materiais até agora ocultos em reservas de museus. Abstract: This study of Roman lamps from Alcácer do Sal (Salacia) is import...

    11. Análisis físico-químico de la sal sódica de la prostaciclina obtenida en Cuba

      Directory of Open Access Journals (Sweden)

      José A González Lavaut

      1999-12-01

      Full Text Available Se realizó el análisis físico-químico de la sal sódica de la prostaciclina por espectroscopia infrarroja, resonancia magnética nuclear protónica y de carbono-13. Como corroboración de la estructura de la molécula estudida se realizó también el estudio espectroscópico al producto de su hidrólisis, la 6-ceto protaglandina F1a mediante la espectroscopia infrarroja, resonancia magnética nuclear protónica y de carbono-13 con ayuda de las técnicas COSY, así como el reporte de la composición elemental. Se realizó un estudio de la transformación hidrolítica de la sal sódica de la prostaciclina en 6-ceto prostaglandina F1a con el empleo de la detección por cromatografía líquida de alta resolución, lo cual corroboró que éste es el producto único que se forma en dicho proceso.The physical and chemical analysis of prostacyclin sodium salt was made by infrared spectroscopy, proton-emission and carbon-13 nuclear magnetic resonance. To corroborate the structure of the studied molecule, the product of its hydrolysis, 6-ketoprostaglandin F1a , was also studied by infrared spectroscopy, and proton-emission and carbon-13 nuclear magnetic resonance assisted by COSY techniques. The report of the elemental composition was made, too. A study of the hydrolytic transformation of prostacyclin sodium salt into 6-keto-prostaglandin was carried out by high resolution liquid chromatography, which confirmed that this is the only product obtained in such a process.

    12. EFFECTS OF LAND-USE CHANGE ON THE PROPERTIES OF TOP SOIL OF DECIDUOUS SAL FOREST IN BANGLADESH

      Directory of Open Access Journals (Sweden)

      M. A. Kashem

      2016-08-01

      Full Text Available This study examined the effects of land use change on the physico-chemical properties of top soil in the deciduous Sal forest of Bangladesh. Relatively less disturbed Sal (Shorea robusta Roxb. Ex Gaertn. forest stands and the nearby stands those were converted into Acacia (Acacia auriculiformis Benth. plantation and pineapple (Ananus comosus (L. Merr. cultivation were selected to examine the effects of land use change on soil properties. For each land use type, soil samples were collected from 4 locations, 50m distant from each other, as replicates. Soil samples were collected at 0-5, 5-10, and 10-15 cm depths. Soil moisture content, conductivity, pH organic C, total N and total P were determined as soil properties. Leaf litter of Sal, Acacia and pineapple was incubation for 90 and 180 days in independent identical soil in order to examine the effects of plant species through leaf litter on the soil chemical nutrient (N and P status. Data showed that soil moisture content, conductivity and pH were significantly affected by land use but not by depth. However, soil organic C was affected by both land-use type (P< 0.02 and soil depth (P< 0.003, although no significant interactions appeared between these two factors. Soil total N and P did not differ between land use types but by depth and, N and P contents decreased with the increase of depth. Rates of nutrients (N and P released from Sal, Acacia and pineapple did not differ significantly among them during incubation. Results of the present study reveal that properties of the top soil of the Madhupur Sal forest are different in their responses to the varying land uses. The findings of this study are thus relevant for the sustainable management of the deciduous Sal forest ecosystems.

    13. Fatores associados à adição de sal à refeição pronta

      Directory of Open Access Journals (Sweden)

      Raquel da Silva Assunção de Castro

      2014-05-01

      Full Text Available O objetivo desta pesquisa foi investigar se existem diferenças na adição de sal à refeição pronta entre homens e mulheres. Foram incluídos 47.557 indivíduos de 18 a 64 anos, participantes do sistema de Vigilância de Fatores de Risco e Proteção para Doenças Crônicas por Inquérito Telefônico, das 26 capitais e Distrito Federal, em 2006. As diferenças entre homens e mulheres foram analisadas pelo teste do qui-quadrado e as magnitudes da associação estimadas pelo Odds Ratio obtido por meio da regressão logística múltipla. A prevalência da adição de sal à refeição pronta foi 8,3%, sendo maior entre homens (9,8% vs 6,9%, p < 0,01. Após ajustes, a adição de sal à refeição pronta foi maior em indivíduos com a autoavaliação de saúde regular e ruim, relato de doença cardiovascular e que residiam na região Norte do Brasil. Indivíduos hipertensos relataram adicionar menos sal à refeição pronta. A escolaridade não foi associada à adição de sal. Homens adicionam mais sal à refeição pronta do que mulheres. Políticas públicas de saúde voltadas para a redução da ingestão de sal pela população devem levar em consideração a diferença de gênero no uso discricionário de sal e nos fatores que favorecem essas diferenças.

    14. White matter involvement in sporadic Creutzfeldt-Jakob disease.

      Science.gov (United States)

      Caverzasi, Eduardo; Mandelli, Maria Luisa; DeArmond, Stephen J; Hess, Christopher P; Vitali, Paolo; Papinutto, Nico; Oehler, Abby; Miller, Bruce L; Lobach, Irina V; Bastianello, Stefano; Geschwind, Michael D; Henry, Roland G

      2014-12-01

      Sporadic Creutzfeldt-Jakob disease is considered primarily a disease of grey matter, although the extent of white matter involvement has not been well described. We used diffusion tensor imaging to study the white matter in sporadic Creutzfeldt-Jakob disease compared to healthy control subjects and to correlated magnetic resonance imaging findings with histopathology. Twenty-six patients with sporadic Creutzfeldt-Jakob disease and nine age- and gender-matched healthy control subjects underwent volumetric T1-weighted and diffusion tensor imaging. Six patients had post-mortem brain analysis available for assessment of neuropathological findings associated with prion disease. Parcellation of the subcortical white matter was performed on 3D T1-weighted volumes using Freesurfer. Diffusion tensor imaging maps were calculated and transformed to the 3D-T1 space; the average value for each diffusion metric was calculated in the total white matter and in regional volumes of interest. Tract-based spatial statistics analysis was also performed to investigate the deeper white matter tracts. There was a significant reduction of mean (P=0.002), axial (P=0.0003) and radial (P=0.0134) diffusivities in the total white matter in sporadic Creutzfeldt-Jakob disease. Mean diffusivity was significantly lower in most white matter volumes of interest (PCreutzfeldt-Jakob disease. Mean diffusivity reduction reflected concomitant decrease of both axial and radial diffusivity, without appreciable changes in white matter anisotropy. Tract-based spatial statistics analysis showed significant reductions of mean diffusivity within the white matter of patients with sporadic Creutzfeldt-Jakob disease, mainly in the left hemisphere, with a strong trend (P=0.06) towards reduced mean diffusivity in most of the white matter bilaterally. In contrast, by visual assessment there was no white matter abnormality either on T2-weighted or diffusion-weighted images. Widespread reduction in white matter mean

    15. Genil Central: de sal??n barroco perif??rico a distribuidor central contempor??neo. Concurso de ideas para la rehabilitaci??n del Paseo del Sal??n

      OpenAIRE

      Rivas-Navarro, Juan L.; Cabrera-Manzano, David; G??mez-Ord????ez, Jos?? Luis; Bravo-Rodr??guez, Bel??n; Lomas-Casanova, Marta; Osuna-P??rez, Fernando; Garc??a-Trivi??o, Francisco; Aguilera, David

      2013-01-01

      Esta publicaci??n presenta la propuesta para el ???Concurso de ideas para la rehabilitaci??n del Paseo del Sal??n??? elaborado desde el Laboratorio de Urbanismo de la Universidad de Granada en Febrero de 2012, con el que se gan?? un premio.

    16. Stakeholder perceptions of decision-making process on marine biodiversity conservation on sal island (Cape Verde

      Directory of Open Access Journals (Sweden)

      Jorge Ramos

      2011-01-01

      Full Text Available In the Sal Island (Cape Verde there is a growing involvement, will and investment in the creation of tourism synergies. However, much of the economic potential of the island can be found submerged in the sea: it is its intrinsic 'biodiversity'. Due to this fact, and in order to balance environmental safety and human pressure, it has been developed a strategy addressing both diving and fishing purposes. That strategy includes the deployment of several artificial reefs (ARs around the island. In order to allocate demand for diving and fishing purposes, we have developed a socio-economic research approach addressing the theme of biodiversity and reefs (both natural and artificial and collected expectations from AR users by means of an inquiry method. It is hypothesized a project where some management measures are proposed aiming marine biodiversity conservation. Using the methodology named as analytic hierarchy process (AHP it was scrutinized stakeholders' perception on the best practice for marine biodiversity conservation in the Sal Island. The results showed that to submerge obsolete structures in rocky or mixed areas have a high potential, but does not gathers consensuality. As an overall conclusion, it seems that limitation of activities is the preferred management option to consider in the future.Na Ilha do Sal (Cabo Verde existe um crescente envolvimento, vontade e investimento na criação de sinergias turísticas. Contudo, muito do potencial económico da ilha está submerso - a biodiversidade marinha. Devido a este facto, e tendo em vista promover a sustentabilidade ambiental associada ao eco-turismo, vem sendo desenvolvida uma estratégia direccionada, quer ao mergulho, quer à pesca. Esta estratégia inclui a implantação de vários recifes artificiais (RA na Baía de Santa Maria. De modo a alocar a procura para propósitos como o mergulho e a pesca, desenvolvemos um plano de pesquisa socio-económica relativo ao tema da biodiversidade

    17. Investigation of the Hosgri Fault, offshore Southern California, Point Sal to Point Conception

      Science.gov (United States)

      Payne, C.M.; Swanson, O.E.; Schell, B.A.

      1979-01-01

      A high-resolution seismic reflection survey of the inner continental shelf between Point Sal and Point Conception has revealed faults that displace post-Wisconsin strata (less than 17,000-20,000 years). These faults are the Hosgri fault, the Offshore Lompoc fault, and smaller unnamed faults. Faults trending offshore from the adjacent shoreline such as the Pezzoni, Lions Head, Honda, and Pacifico faults, do not show post-Wisconsin activity. The Hosgri fault trends directly toward the coastline between Purisima Point and Point Arguello where it appears to merge with folds and smaller faults in the western Transverse Ranges. This trend of offshore structures toward the Point Arguello-Point Conception area is consistent with a hypothesis that the regional structural fabric of the southern California Coast Ranges and its adjacent offshore area merge with the Transverse Ranges.

    18. MAJOR MOLECULAR GENETIC DRIVERS IN SPORADIC PRIMARY HYPERPARATHYROIDISM.

      Science.gov (United States)

      Arnold, Andrew

      2016-01-01

      Primary hyperparathyroidism is primarily due to a solitary parathyroid adenoma but multi-gland disease, parathyroid carcinoma, and ectopic parathyroid hormone production can occur. Although primary hyperparathyroidism mostly presents sporadically, strong familial predispositions also exist. Much is known about heritable genetic mutations responsible for these syndromes, including multiple endocrine neoplasia types 1 and 2A, hyperparathyroidism-jaw tumor syndrome, and familial hypocalciuric hypercalcemia. Acquired mutations in common sporadic hyperparathyroidism have also been discovered. Here we focus on the most common and well-established genetic drivers: 1) involvement of the oncogene cyclin D1 in human neoplasia was first established in parathyroid adenomas, followed by recognition of its importance in other tumor types including breast cancer and B-lymphoid malignancy; and 2) somatic mutation of the MEN1 gene, first identified as the source of pathogenic germline mutations in patients with familial endocrinopathies, is found in a substantial fraction of non-familial parathyroid adenomas.

    19. Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.

      Science.gov (United States)

      Erlic, Zoran; Ploeckinger, Ursula; Cascon, Alberto; Hoffmann, Michael M; von Duecker, Laura; Winter, Aurelia; Kammel, Gerit; Bacher, Janina; Sullivan, Maren; Isermann, Berend; Fischer, Lars; Raffel, Andreas; Knoefel, Wolfram Trudo; Schott, Matthias; Baumann, Tobias; Schaefer, Oliver; Keck, Tobias; Baum, Richard P; Milos, Ioana; Muresan, Mihaela; Peczkowska, Mariola; Januszewicz, Andrzej; Cupisti, Kenko; Tönjes, Anke; Fasshauer, Mathias; Langrehr, Jan; von Wussow, Peter; Agaimy, Abbas; Schlimok, Günter; Lamberts, Regina; Wiech, Thorsten; Schmid, Kurt Werner; Weber, Alexander; Nunez, Mercedes; Robledo, Mercedes; Eng, Charis; Neumann, Hartmut P H

      2010-12-01

      Pancreatic islet cell tumors (ICTs) occur as sporadic neoplasias or as a manifestation of multiple endocrine neoplasia type 1 (MEN1) and von Hippel-Lindau disease (VHL). Molecular classification of ICTs is mandatory for timely diagnosis and surveillance. Systematic comparison of VHL-ICTs and sporadic ICTs has been lacking. Our registry-based approaches used the German NET-Registry with 259 patients with neuroendocrine tumors (NETs), who were primarily diagnosed with NETs, and the German VHL-Registry with 485 molecular genetically confirmed patients who had undergone magnetic resonance imaging or computed tomography of the abdomen. All patients provided blood DNA for testing of the MEN1 and VHL genes for intragenic mutations and large deletions. In the NET-Registry, 9/101 patients (8.9%) with ICTs had germline mutations, 8 in MEN1 and 1 in VHL. In the VHL-Registry, prevalence of NETs was 52/487 (10.6%), and all were ICTs. Interestingly, of those with VHL p.R167W, 47% developed ICTs, compared to 2% of those with p.Y98H. In total, there were 92 truly sporadic, i.e. mutation-negative ICT patients. Comparing these with the 53 VHL-ICT patients, the statistically significant differences were predominance of female gender (P=0.01), multifocal ICTs (P=0.0029), and lower malignancy rate (PICTs compared to sporadic cases. VHL was prevalent in ICTs, which are rarely the first presentation. Patients with NETs should not be subjected to genetic testing of the VHL gene, unless they have multifocal ICTs, other VHL-associated tumors, and/or a family history for VHL.

    20. The Role of Iron In Sporadic E Layers

      Science.gov (United States)

      Vondrak, T.; Woodcock, K. R. I.; Plane, J. M. C.

      Sporadic E layers in the lower thermosphere are mostly composed of metallic ions, of which Fe+ is the most abundant. Because dielectric recombination (Fe+ + elec- tron) is very slow, the lifetime of Fe+ above about 100 km is at least several days. However, below this height molecular ions such as FeO+, FeO2+ and FeN2+ form in- creasingly rapidly through reactions with O3, O2 and N2, respectively. These undergo rapid dissociative recombination with electrons, causing Fe+ to be neutralised increas- ingly rapidly as a sporadic E layer descends. Indeed, this is the most likely mechanism for the formation of the sporadic neutral Fe layers that are observed by lidar. However, atomic O plays a very important role in reducing these molecular ions back to Fe+, competing with dissociative recombination and thus slowing the rate at which Fe+ is neutralised and a sporadic E layer dissipates. This paper will discuss a laboratory and modelling study of the reactions of FeO+, FeO2+ and FeN2+ with atomic O. These reactions were studied (for the first time) in a fast flow tube, using the pulsed laser ablation of a rotating iron rod as the source of Fe+ ions in the upstream section of the tube. Reactants were then added to produce molecular ions, and atomic O further downstream through a movable injector. Fe+ and the molecular ions were detected at the downstream end of the tube using a two-stage quadrupole mass spectrometer. The spectroscopy of the FeO+ ion, observed by laser induced fluorescence, will also be discussed as a candidate for future ground-based lidar studies of the ion chemistry of the lower thermosphere.

    1. Measurements of the ionization heights of sporadic radio-meteors

      International Nuclear Information System (INIS)

      Baggaley, W.J.; Webb, T.H.

      1980-01-01

      The echo heights and echo point ionization densities of 4587 sporadic radio-meteors have been determined using a calibrated interferometric height-finding system. Over the height interval 92 to 96 km no association was found between height and ionization but, for radio-meteors ablating above and below this region, significant and opposite trends exist in the data. It is suggested that this could be evidence for the influx of two distinct meteoroid populations. (author)

    2. Hepatoprotective Activity of Herbal Composition SAL, a Standardize Blend Comprised of Schisandra chinensis, Artemisia capillaris, and Aloe barbadensis

      Directory of Open Access Journals (Sweden)

      Mesfin Yimam

      2016-01-01

      Full Text Available Some botanicals have been reported to possess antioxidative activities acting as scavengers of free radicals rendering their usage in herbal medicine. Here we describe the potential use of “SAL,” a standardized blend comprised of three extracts from Schisandra chinensis, Artemisia capillaris, and Aloe barbadensis, in mitigating chemically induced acute liver toxicities. Acetaminophen and carbon tetrachloride induced acute liver toxicity models in mice were utilized. Hepatic functional tests from serum collected at T24 and hepatic glutathione and superoxide dismutases from liver homogenates were evaluated. Histopathology analysis and merit of blending 3 standardized extracts were also confirmed. Statistically significant and dose-correlated inhibitions in serum ALT ranging from 52.5% (p=0.004 to 34.6% (p=0.05 in the APAP and 46.3% (p<0.001 to 29.9% (p=0.02 in the CCl4 models were observed for SAL administered at doses of 400–250 mg/kg. Moreover, SAL resulted in up to 60.6% and 80.2% reductions in serums AST and bile acid, respectively. The composition replenished depleted hepatic glutathione in association with an increase of hepatic superoxide dismutase. Unexpected synergistic protection from liver damage was also observed. Therefore, the composition SAL could be potentially utilized as an effective hepatic-detoxification agent for the protection from liver damage.

    3. Impact of LbSapSal Vaccine in Canine Immunological and Parasitological Features before and after Leishmania chagasi-Challenge.

      Science.gov (United States)

      Resende, Lucilene Aparecida; Aguiar-Soares, Rodrigo Dian de Oliveira; Gama-Ker, Henrique; Roatt, Bruno Mendes; Mendonça, Ludmila Zanandreis de; Alves, Marina Luiza Rodrigues; Silveira-Lemos, Denise da; Corrêa-Oliveira, Rodrigo; Martins-Filho, Olindo Assis; Araújo, Márcio Sobreira Silva; Fujiwara, Ricardo Toshio; Gontijo, Nelder Figueiredo; Reis, Alexandre Barbosa; Giunchetti, Rodolfo Cordeiro

      2016-01-01

      Dogs represent the most important domestic reservoir of L. chagasi (syn. L. infantum). A vaccine against canine visceral leishmaniasis (CVL) would be an important tool for decreasing the anxiety related to possible L. chagasi infection and for controlling human visceral leishmaniasis (VL). Because the sand fly salivary proteins are potent immunogens obligatorily co-deposited during transmission of Leishmania parasites, their inclusion in an anti-Leishmania vaccine has been investigated in past decades. We investigated the immunogenicity of the "LbSapSal" vaccine (L. braziliensis antigens, saponin as adjuvant, and Lutzomyia longipalpis salivary gland extract) in dogs at baseline (T0), during the post-vaccination protocol (T3rd) and after early (T90) and late (T885) times following L. chagasi-challenge. Our major data indicated that immunization with "LbSapSal" is able to induce biomarkers characterized by enhanced amounts of type I (tumor necrosis factor [TNF]-α, interleukin [IL]-12, interferon [IFN]-γ) cytokines and reduction in type II cytokines (IL-4 and TGF-β), even after experimental challenge. The establishment of a prominent pro-inflammatory immune response after "LbSapSal" immunization supported the increased levels of nitric oxide production, favoring a reduction in spleen parasitism (78.9%) and indicating long-lasting protection against L. chagasi infection. In conclusion, these results confirmed the hypothesis that the "LbSapSal" vaccination is a potential tool to control the Leishmania chagasi infection.

    4. Impact of LbSapSal Vaccine in Canine Immunological and Parasitological Features before and after Leishmania chagasi-Challenge.

      Directory of Open Access Journals (Sweden)

      Lucilene Aparecida Resende

      Full Text Available Dogs represent the most important domestic reservoir of L. chagasi (syn. L. infantum. A vaccine against canine visceral leishmaniasis (CVL would be an important tool for decreasing the anxiety related to possible L. chagasi infection and for controlling human visceral leishmaniasis (VL. Because the sand fly salivary proteins are potent immunogens obligatorily co-deposited during transmission of Leishmania parasites, their inclusion in an anti-Leishmania vaccine has been investigated in past decades. We investigated the immunogenicity of the "LbSapSal" vaccine (L. braziliensis antigens, saponin as adjuvant, and Lutzomyia longipalpis salivary gland extract in dogs at baseline (T0, during the post-vaccination protocol (T3rd and after early (T90 and late (T885 times following L. chagasi-challenge. Our major data indicated that immunization with "LbSapSal" is able to induce biomarkers characterized by enhanced amounts of type I (tumor necrosis factor [TNF]-α, interleukin [IL]-12, interferon [IFN]-γ cytokines and reduction in type II cytokines (IL-4 and TGF-β, even after experimental challenge. The establishment of a prominent pro-inflammatory immune response after "LbSapSal" immunization supported the increased levels of nitric oxide production, favoring a reduction in spleen parasitism (78.9% and indicating long-lasting protection against L. chagasi infection. In conclusion, these results confirmed the hypothesis that the "LbSapSal" vaccination is a potential tool to control the Leishmania chagasi infection.

    5. Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.

      Science.gov (United States)

      Amitrano, Sara; Marozza, Annabella; Somma, Serena; Imperatore, Valentina; Hadjistilianou, Theodora; De Francesco, Sonia; Toti, Paolo; Galimberti, Daniela; Meloni, Ilaria; Cetta, Francesco; Piu, Pietro; Di Marco, Chiara; Dosa, Laura; Lo Rizzo, Caterina; Carignani, Giulia; Mencarelli, Maria Antonietta; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca

      2015-11-01

      In about 50% of sporadic cases of retinoblastoma, no constitutive RB1 mutations are detected by conventional methods. However, recent research suggests that, at least in some of these cases, there is somatic mosaicism with respect to RB1 normal and mutant alleles. The increased availability of next generation sequencing improves our ability to detect the exact percentage of patients with mosaicism. Using this technology, we re-tested a series of 40 patients with sporadic retinoblastoma: 10 of them had been previously classified as constitutional heterozygotes, whereas in 30 no RB1 mutations had been found in lymphocytes. In 3 of these 30 patients, we have now identified low-level mosaic variants, varying in frequency between 8 and 24%. In 7 out of the 10 cases previously classified as heterozygous from testing blood cells, we were able to test additional tissues (ocular tissues, urine and/or oral mucosa): in three of them, next generation sequencing has revealed mosaicism. Present results thus confirm that a significant fraction (6/40; 15%) of sporadic retinoblastoma cases are due to postzygotic events and that deep sequencing is an efficient method to unambiguously distinguish mosaics. Re-testing of retinoblastoma patients through next generation sequencing can thus provide new information that may have important implications with respect to genetic counseling and family care.

    6. Stable and sporadic symbiotic communities of coral and algal holobionts

      Science.gov (United States)

      Hester, Eric R; Barott, Katie L; Nulton, Jim; Vermeij, Mark JA; Rohwer, Forest L

      2016-01-01

      Coral and algal holobionts are assemblages of macroorganisms and microorganisms, including viruses, Bacteria, Archaea, protists and fungi. Despite a decade of research, it remains unclear whether these associations are spatial–temporally stable or species-specific. We hypothesized that conflicting interpretations of the data arise from high noise associated with sporadic microbial symbionts overwhelming signatures of stable holobiont members. To test this hypothesis, the bacterial communities associated with three coral species (Acropora rosaria, Acropora hyacinthus and Porites lutea) and two algal guilds (crustose coralline algae and turf algae) from 131 samples were analyzed using a novel statistical approach termed the Abundance-Ubiquity (AU) test. The AU test determines whether a given bacterial species would be present given additional sampling effort (that is, stable) versus those species that are sporadically associated with a sample. Using the AU test, we show that coral and algal holobionts have a high-diversity group of stable symbionts. Stable symbionts are not exclusive to one species of coral or algae. No single bacterial species was ubiquitously associated with one host, showing that there is not strict heredity of the microbiome. In addition to the stable symbionts, there was a low-diversity community of sporadic symbionts whose abundance varied widely across individual holobionts of the same species. Identification of these two symbiont communities supports the holobiont model and calls into question the hologenome theory of evolution. PMID:26555246

    7. Consumer attitudes, knowledge, and behavior related to salt consumption in sentinel countries of the Americas Actitudes, conocimientos y comportamiento de los consumidores en relación con el consumo de sal en países centinelas de la Región de las Américas

      Directory of Open Access Journals (Sweden)

      Rafael Moreira Claro

      2012-10-01

      Full Text Available OBJECTIVE: To describe individual attitudes, knowledge, and behavior regarding salt intake, its dietary sources, and current food-labeling practices related to salt and sodium in five sentinel countries of the Americas. METHODS: A convenience sample of 1 992 adults (≥ 18 years old from Argentina, Canada, Chile, Costa Rica, and Ecuador (approximately 400 from each country was obtained between September 2010 and February 2011. Data collection was conducted in shopping malls or major commercial areas using a questionnaire containing 33 questions. Descriptive estimates are presented for the total sample and stratified by country and sociodemographic characteristics of the studied population. RESULTS: Almost 90% of participants associated excess intake of salt with the occurrence of adverse health conditions, more than 60% indicated they were trying to reduce their current intake of salt, and more than 30% believed reducing dietary salt to be of high importance. Only 26% of participants claimed to know the existence of a recommended maximum value of salt or sodium intake and 47% of them stated they knew the content of salt in food items. More than 80% of participants said that they would like food labeling to indicate high, medium, and low levels of salt or sodium and would like to see a clear warning label on packages of foods high in salt. CONCLUSIONS: Additional effort is required to increase consumers' knowledge about the existence of a maximum limit for intake and to improve their capacity to accurately monitor and reduce their personal salt consumption.OBJETIVO: Describir las actitudes, los conocimientos y el comportamiento individuales con respecto al consumo de sal, sus fuentes alimentarias, y las prácticas actuales de etiquetado de alimentos en relación con su contenido en sal y sodio en cinco países centinelas de la Región de las Américas. MÉTODOS: De septiembre del 2010 a febrero del 2011, se obtuvo una muestra de conveniencia de 1

    8. Synthesis of high-surface-area spinel-type MgAl2O4 nanoparticles ...

      Indian Academy of Sciences (India)

      Home; Journals; Bulletin of Materials Science; Volume 40; Issue 1. Synthesis of high-surface-area spinel-type MgAl 2 O 4 nanoparticles by [Al(sal) 2 (H 2 O) 2 ] 2 [Mg(dipic) 2 ] and [Mg(H 2 O) 6 ][Al(ox) 2 (H 2 O) 2 ] 2 ·5H 2 O: influence of inorganic precursor type. Volume 40 Issue 1 February 2017 pp 45-53 ...

    9. Fueros y sal: controversias fiscales entre la provincia de Álava y la corona durante el periodo Borbónico

      Directory of Open Access Journals (Sweden)

      María Rosario PORRES MARIJUÁN

      2009-11-01

      Full Text Available RESUMEN: A partir del reinado de Felipe II, la política fiscal de la Corona en relación a la sal entró en contradicción con algunos de los usos, costumbres y privilegios detentados por las provincias vascas en esa materia. Álava, como consumidora y productora con sus salinas de Añana mantuvo algunas controversias durante el primer período borbónico. Sus autoridades se enfrentaron a la Corona por cuestiones relacionadas con la sal en esta etapa que coincide con una fase evolutiva en la administración aduanera del Distrito de Cantabria. Una fase de reforma que tiene en 1740 la fecha clave, pues es entonces cuando se implanta la administración directa de la Corona sobre las rentas. Su objetivo era doble: la obtención de ingresos más elevados y más regulares, al mismo tiempo que hacer más efectiva la maquinaria aduanera en su fin de perseguir y eliminar las actividades fraudulentas. Álava tuvo que resignarse a la pérdida de ciertos privilegios relacionados con el consumo de la sal, pero nunca llegó a renunciar a los referidos al precio y su exención ante los continuos sobreprecios impuestos por la Corona con fines diversos. Las autoridades alavesas se aferraban a la figura del contrafuero en la medida en la que los fines destinatarios del «crecimiento» solían ser dos materias que los alaveses asumían a través de su propia hacienda: los servicios militares y el reparo de los caminos.ABSTRACT: From Philip ll’s reign onwards, the taxation policy of the Crown in relation to salt came into conflict with some of the uses, customs and privileges retained by the Basque provinces in this field. Alava, as both consumer and producer, with its Añana saltworks, sustained some controversy during the first Bourbon period. Its authorities opposed the Crown on questions related to salt iln this period, which coincided with a developmental phase in the customs administration of the district of Cantabria. The key date of this reform phase was

    10. Eliminación de sal inorgánica residual producida en la fermentación farmacéutica por nanofiltración y ósmosis inversa: experimento y modelo matemático

      Directory of Open Access Journals (Sweden)

      Jesús Mora Molina

      2007-05-01

      Full Text Available El problema del agua residual con altos contenidos de sal es una importante preocupación de las autoridades medioambientalistas. Los metódos de tratamientos de aguas residuales existentes, tanto municipales como industriales, son incapaces de retener eficientemente los compuestos inorgánicos. En este trabajo se presentan nuevos resultados con membranas de ósmosis inversa (OI y nanofiltración (NF preparadas por las compañías Filmtec y Millipore. Los objetivos principales de esta investigación fueron estos: 1. Encontrar un sistema con alta eficiencia para separar la sal del agua residual generada en el proceso fermentativo farmacéutico y obtener una concentración según lo establecido por la legislación ambiental (concentración de sal: 2500 mg/l, y concentración de los sólidos totales: 1200 mgO2/l; además, que a la planta de tratamiento biológico o directamente al medio ambiente. 2.Determinar la retención de sal demanda química de oxígeno y el flujo del filtrado con sistemas de NF y OI. Asimismo, con base en los datos experimentales, poder describir soluciones similares a las basadas en el modelo de ósmosis a aguas residuales. La temperatura experimental, la presión y el flujo de recirculación fueron mantenidos constantes, en la NF 30°C, 30 bar y 200 l/h, en la OI 30-40°C, 40-50 bar y 300 l/h. En los experimentos de la NF y la OI el factor de concentración fue de Cff = Vaguaori(m3 /Vretenido (m3 = 2,67. Se midieron y se calcularon el flujo del filtrado, la conductividad eléctrica del filtrado, la demanda química de oxígeno y los sólidos totales. En el sistema de OI se obtuvieron los siguientes resultados: contenido de sólidos totales en el agua original 2,06%, en el filtrado, 0,048%; demanda química de oxígeno en el agua original 8750 mg O2/l, en el filtrado 289 mgO2/l. Los resultados demostraron claramente que las membranas de NF investigadas no fueron lo suficientemente eficientes en la retención de sal del agua

    11. Application of quantitative DTI metrics in sporadic CJD

      Directory of Open Access Journals (Sweden)

      E. Caverzasi

      2014-01-01

      Full Text Available Diffusion Weighted Imaging is extremely important for the diagnosis of probable sporadic Jakob–Creutzfeldt disease, the most common human prion disease. Although visual assessment of DWI MRI is critical diagnostically, a more objective, quantifiable approach might more precisely identify the precise pattern of brain involvement. Furthermore, a quantitative, systematic tracking of MRI changes occurring over time might provide insights regarding the underlying histopathological mechanisms of human prion disease and provide information useful for clinical trials. The purposes of this study were: 1 to describe quantitatively the average cross-sectional pattern of reduced mean diffusivity, fractional anisotropy, atrophy and T1 relaxation in the gray matter (GM in sporadic Jakob–Creutzfeldt disease, 2 to study changes in mean diffusivity and atrophy over time and 3 to explore their relationship with clinical scales. Twenty-six sporadic Jakob–Creutzfeldt disease and nine control subjects had MRIs on the same scanner; seven sCJD subjects had a second scan after approximately two months. Cortical and subcortical gray matter regions were parcellated with Freesurfer. Average cortical thickness (or subcortical volume, T1-relaxiation and mean diffusivity from co-registered diffusion maps were calculated in each region for each subject. Quantitatively on cross-sectional analysis, certain brain regions were preferentially affected by reduced mean diffusivity (parietal, temporal lobes, posterior cingulate, thalamus and deep nuclei, but with relative sparing of the frontal and occipital lobes. Serial imaging, surprisingly showed that mean diffusivity did not have a linear or unidirectional reduction over time, but tended to decrease initially and then reverse and increase towards normalization. Furthermore, there was a strong correlation between worsening of patient clinical function (based on modified Barthel score and increasing mean diffusivity.

    12. Mutations in the RET proto-oncogene in sporadic pheochromocytomas

      Energy Technology Data Exchange (ETDEWEB)

      Thibodeau, S.N.; Lindor, N.M.; Honchel, R. [Mayo Clinic and Foundation, Rochester, MN (United States)] [and others

      1994-09-01

      Mutations in the RET proto-oncogene have recently been demonstrated in kindreds with Multiple Endocrine Neoplasia (MEN) types 2A and 2B. Both of these autosomal dominant disorders are characterized by the development of neoplasia in cell lines of neural crest origin, such as medullary throid carcinomas and pheochromocytomas. Individuals with MEN 2B have, in addition, ganglioneuromas of the lips, tongue and colon, a marfanoid habitus, and corneal nerve thickening. Approximately 90% of patients with MEN 2A have a germline mutation in exons 10 or 11, while 95% of patients with MEN 2B have a T{yields}C transition in codon 918 of exon 16. In this study, pheochromocytomas from 29 individuals who had no clinical evidence of MEN 2A or 2B (sporadic) were examined for the presence of either germline or somatic mutations in exons 10, 11, and 16 of the RET proto-oncogene. Of the 29 tumors examined, 3 (10%) were found to have a mutation in one of the three exons. One tumor had a G{yields}A transition in codon 609 (exon 10), another had a 6 bp deletion encompassing codons 632 & 633 (exon 11), and the final tumor had a T{yields}C transition in codon 918 (exon 16). These mutations were not found in the corresponding normal DNA from these individuals, indicating that the mutation were somatic in origin. Although we cannot exclude the possibility of mutations in other regions of the RET proto-oncogene, our data suggests that: (1) individuals presenting with apparently sporadic pheochromocytomas are not likely to have undiagnosed MEN 2A or 2B; and (2) somatic mutations in the RET proto-oncogene contribute to the process of tumorigenesis in a small percentage of sporadic pheochromocytomas.

    13. Imaging and clinical characteristics of sporadic Creutzfeldt-Jakob disease

      Directory of Open Access Journals (Sweden)

      HAN Shun-chang

      2013-04-01

      Full Text Available Five patients with sporadic Creutzfeldt-Jakob disease (sCJD presented rapidly progressive dementia which were subacute onset from 1 to 4 months. Among these cases, periodic synchronous discharge (PSD of electroencephalography (EEG was seen in 2 patients. Besides, 4 patients obtained positive results in cerebrospinal fluid (CSF analysis for 14-3-3 protein. The cranial MRI examination showed symmetrical or asymmetrical colored-ribbon-shaped high signals in cerebral cortex or basal ganglia by diffusion weighted imaging (DWI, suggesting that DWI had high sensitivity and specificity for the diagnosis of sCJD as a preferred method in the clinical examination of sCJD.

    14. Diffusion MR imaging in sporadic Creutzfeldt-Jakob disease

      Directory of Open Access Journals (Sweden)

      Burcak Cakir Pekoz

      2014-08-01

      Full Text Available Creutzfeldt-Jakob disease (CJD is a rare dementing disease and is thought to caused by a prion. It is characterized by rapidly progressive dementia, ataxia, myoclonus, akinetic mutism and eventual death. Brain biopsy or autopsy is required for a definitive diagnosis of CJD. Diffusion-weighted imaging became an important tool for early diagnosis of CJD because of the high sensitivity. We present 59-year-old female patient diagnosed as sporadic CJD with typical MR imagings. [Cukurova Med J 2014; 39(4.000: 880-883

    15. The monster sporadic group and a theory underlying superstring models

      International Nuclear Information System (INIS)

      Chapline, G.

      1996-09-01

      The pattern of duality symmetries acting on the states of compactified superstring models reinforces an earlier suggestion that the Monster sporadic group is a hidden symmetry for superstring models. This in turn points to a supersymmetric theory of self-dual and anti-self-dual K3 manifolds joined by Dirac strings and evolving in a 13 dimensional spacetime as the fundamental theory. In addition to the usual graviton and dilaton this theory contains matter-like degrees of freedom resembling the massless states of the heterotic string, thus providing a completely geometric interpretation for ordinary matter. 25 refs

    16. Landscape and Astronomy in Megalithic Portugal: the Carregal do Sal Nucleus and Star Mountain Range

      Directory of Open Access Journals (Sweden)

      Fabio Silva

      2013-02-01

      Full Text Available Central Portugal, delimited by the Douro river to the north and the Mondego to the south, is the second densest region of megalithic monuments in the country. The Neolithic archaeological record indicates seasonal transhumance between higher pastures in the summer and lower grounds in the winter. The monuments are found in lower ground and it has been suggested that they were built during the winter occupation of their surroundings. The astronomical orientation of their entrances lends further support to this hypothesis. A recent survey of the orientation of the chambers and corridors of these dolmens, conducted by the author, found good agreement with prior surveys, but also demonstrated that other interpretations are possible. This paper presents an update on the survey, including extra sites surveyed in the spring of 2011, as well as the GIS confirmation of all horizon altitudes that couldn’t be empirically measured. The megalithic nucleus of Carregal do Sal, on the Mondego valley, is then looked at in more detail. It is found that there is a preference for the orientation of dolmens towards Star Mountain Range in-line with the topographic arguments of landscape archaeology. In addition, it was found that the topography also marks the rise of particular red stars, Betelgeuse and Aldebaran, during the period of megalithic building, at the onset of spring marking the transition from low ground to the high pastures. This hypothesis finds further support from toponymic folktales that explain the origin of the name of the mountain range.

    17. SalHUD--A Graphical Interface to Public Health Data in Puerto Rico.

      Science.gov (United States)

      Ortiz-Zuazaga, Humberto G; Arce-Corretjer, Roberto; Solá-Sloan, Juan M; Conde, José G

      2015-12-22

      This paper describes SalHUD, a prototype web-based application for visualizing health data from Puerto Rico. Our initial focus was to provide interactive maps displaying years of potential life lost (YPLL). The public-use mortality file for year 2008 was downloaded from the Puerto Rico Institute of Statistics website. Data was processed with R, Python and EpiInfo to calculate years of potential life lost for the leading causes of death on each of the 78 municipalities in the island. Death records were classified according to ICD-10 codes. YPLL for each municipality was integrated into AtlasPR, a D3 Javascript map library. Additional Javascript, HTML and CSS programing was required to display maps as a web-based interface. YPLL for all municipalities are displayed on a map of Puerto Rico for each of the ten leading causes of death and for all causes combined, so users may dynamically explore the impact of premature mortality. This work is the first step in providing the general public in Puerto Rico with user-friendly, interactive, visual access to public health data that is usually published in numerical, text-based media.

    18. Preparation and provisional validation of a large size dried spike: Batch SAL-9931

      International Nuclear Information System (INIS)

      Jammet, G.; Zoigner, A.; Doubek, N.; Grabmueller, G.; Bagliano, G.

      1990-05-01

      To determine uranium and plutonium concentration using isotope dilution mass spectrometry, weighed aliquands of a synthetic mixture containing about 2 mg of Pu (with a 239 Pu abundance of about 98%) and 40 mg of U (with a 235 U enrichment of about 19%) have been prepared and verified by SAL to be used to spike samples of concentrated spent fuel solutions with a high burn-up and a low 235 U enrichment. The advantages of such a Large Size Dried (LSD) Spike have been pointed out elsewhere and proof of the usefulness in the field reported. Certified Reference Materials Pu-NBL-126, natural U-NBS-960 and 93% enriched U-NBL-116 were used to prepare a stock solution containing 1.8 mg/ml of Pu and 37.3 mg/ml of 19.4% enriched U. Before shipment to the Reprocessing Plant, aliquands of the stock solution are dried to give Large Size Dried Spikes which resist shocks encountered during transportation, so that they can readily be recovered quantitatively at the plant. This paper describes the preparation and the validation of a Large Size Dried Spike which is intended to be used as a common spike by the plant operator, the national and the IAEA inspectorates. 6 refs, 7 tabs

    19. Preparation and provisional validation of a large size dried spike: Batch SAL-9934

      International Nuclear Information System (INIS)

      Jammet, G.; Zoigner, A.; Doubek, N.; Aigner, H.; Deron, S.; Bagliano, G.

      1990-05-01

      To determine uranium and plutonium concentration using isotope dilution mass spectrometry, weighed aliquands of a synthetic mixture containing about 2 mg of Pu (with a 239 Pu abundance of about 98%) and 40 mg of U (with a 235 U enrichment of about 19%) have been prepared and verified by SAL to be used to spike samples of concentrated spent fuel solutions with a high burn-up and a low 235 U enrichment. Certified Reference Materials Pu-NBL-126, natural U-NBS-960 and 93% enriched U-NBL-116 were used to prepare a stock solution containing 3.2 mg/ml of Pu and 64.3 mg/ml of 18.8% enriched U. Before shipment to the Reprocessing Plant, aliquands of the stock solution are dried to give Large Size Dried (LSD) Spikes which resist shocks encountered during transportation, so that they can readily be recovered quantitatively at the plant. This paper describes the preparation and the validation of a third batch of LSD-Spike which is intended to be used as a common spike by the plant operator, the national and the IAEA inspectorates. 6 refs, 6 tabs

    20. Contato corporal entre adolescentes através da dança de salão na escola

      OpenAIRE

      Sousa,Nilza Coqueiro Pires de; Caramaschi,Sandro

      2011-01-01

      A finalidade deste estudo foi identificar a reação e percepção dos adolescentes em relação ao contato corporal bem como as expressões emocionais através da dança de salão. Participaram 42 adolescentes do ensino fundamental estadual do interior do Estado de São Paulo. A coleta de dados foi realizada em grupo através de uma filmagem da aula de dança de salão e aplicação de um questionário referente à vivência. Verificou-se que as experiências de dança propiciam uma maior proximidade corporal e ...

    1. Effect of co-fractionation technique in the preparation of palm oil and sal fat based cocoa butter equivalent.

      Science.gov (United States)

      Md Ali, A R

      1996-01-01

      Two types of palm oil and sal fat based cocoa butter equivalents, namely fCBE (produced by using co-fractionation method) and mCBE (produced by using conventional method) were prepared. Results showed that the fCBE had triglyceride composition and solidification characteristics closer to the Malaysian cocoa butter than the mCBE produced at the same yield percentage. Increasing acetone washing time had little effect on the fCBE if compared to the effect of increasing palm olein to sal fat blend ratio. Co-fractionation technique increase the compatibility between CBE component triglycerides. Thus, more palm oil can be incorporated in the preparation and the process can be carried out at not low temperature as compared to the conventional method.

    2. Slower Dynamics and Aged Mitochondria in Sporadic Alzheimer's Disease

      Science.gov (United States)

      Gargini, Ricardo; García, Esther; Perry, George

      2017-01-01

      Sporadic Alzheimer's disease corresponds to 95% of cases whose origin is multifactorial and elusive. Mitochondrial dysfunction is a major feature of Alzheimer's pathology, which might be one of the early events that trigger downstream principal events. Here, we show that multiple genes that control mitochondrial homeostasis, including fission and fusion, are downregulated in Alzheimer's patients. Additionally, we demonstrate that some of these dysregulations, such as diminished DLP1 levels and its mitochondrial localization, as well as reduced STOML2 and MFN2 fusion protein levels, take place in fibroblasts from sporadic Alzheimer's disease patients. The analysis of mitochondrial network disruption using CCCP indicates that the patients' fibroblasts exhibit slower dynamics and mitochondrial membrane potential recovery. These defects lead to strong accumulation of aged mitochondria in Alzheimer's fibroblasts. Accordingly, the analysis of autophagy and mitophagy involved genes in the patients demonstrates a downregulation indicating that the recycling mechanism of these aged mitochondria might be impaired. Our data reinforce the idea that mitochondrial dysfunction is one of the key early events of the disease intimately related with aging. PMID:29201274

    3. ¿Políticas públicas o acciones de gobierno turísticas en Ixtapan de la Sal? El caso del Cocdetur

      Directory of Open Access Journals (Sweden)

      Graciela Cruz Jiménez

      2008-01-01

      Full Text Available Los cambios en la forma de gobierno en México han impulsado, al menos en teoría, a las políticas públicas como un mecanismo para propiciar la participación de los distintos sectores de la sociedad en su diseño, implementación y evaluación, contrario a las tradicionales acciones de gobierno, asumidas en solitario por la autoridad pública. El Consejo Consultivo de Ixtapan de la Sal (Cocdetur se erigió como un órgano de consulta tendiente a incorporar los principios de las políticas públicas a la conducción de la actividad turística. Este artículo pretende determinar si se cumplieron estos propósitos o se mantuvo el esquema tradicional. Con base en ello, las condiciones sustentables o no que propicia una u otra en la comunidad receptora.

    4. Sal de iodônio aumenta a resistência coesiva de uma resina adesiva experimental na presença de solvente

      Directory of Open Access Journals (Sweden)

      Fernanda B. Leal

      2013-01-01

      Full Text Available Este estudo avaliou o efeito da concentração de solvente na resistência coesiva de um adesivo experimental contendo um derivado do difeniliodônio. Uma blenda monomérica baseada em Bis-GMA, TEGDMA e HEMA foi utilizada como resina adesiva modelo. Foram avaliados dois sistemas de fotoiniciação: um sistema bináriocanforquinona (CQ e etil 4-dimetilamino benzoato (EDAB] e um sistema ternário [CQ, EDAB e hexafluorfosfato de difeniliodônio (DPI]. Nestas resinas foram adicionadas diferentes concentrações de etanol, 0, 5, 10, 20, 30, 40% e teste de resistência coesiva foi utilizado para investigar o efeito deste solvente sobre as propriedades do material. A presença de solvente reduziu a resistência coesiva do polímero, independentemente do sistema de fotoiniciação utilizado. Além disso, o uso do sal de iodônio no sistema de fotoiniciação aumentou a resistência coesiva quando comparado com o sistema binário, e independentemente da concentração de solvente, a resistência coesiva dos polímeros contendo difeniliodônio foi superior à do sistema binário de fotoiniciação.

    5. O salário na obra de Frederick Winslow Taylor Frederick Winslow Taylor's oeuvre: an analysis of wages

      Directory of Open Access Journals (Sweden)

      Victor Paulo Gomes da Silva

      2011-08-01

      Full Text Available O presente artigo analisa e explica a perspectiva de Frederick Winslow Taylor sobre o salário, tal como enunciada em suas duas grandes obras: Shop management (1903 e Principles of scientific management (1911. A primeira parte consubstancia-se na apresentação de aspectos econômicos relevantes que caracterizaram o tempo em que ele viveu e o quanto influenciaram suas obras. Na segunda parte, é efetuada uma análise da forma como o salário é apresentado nas duas obras de F. W. Taylor. O artigo termina com um comentário sobre as obras supracitadas no que se refere à perspectiva taylorista do salário.This paper analyses and explains Frederick Winslow Taylor's perspective on wages, as it is presented in his main literary works: Shop management (1903 and Principles of scientific management (1911. The first part presents the main economic aspects that characterized his lifetime, which undoubtedly influenced his literary works. The second part analyses F. W. Taylor's two main books in which the author's perspective about wages is discussed. The paper concludes with a critical view of F. W. Taylor's view on wages.

    6. Novel acyloxy derivatives of branched mono- and polyol esters of sal fat: multiviscosity grade lubricant base stocks.

      Science.gov (United States)

      Kamalakar, Kotte; Sai Manoj, Gorantla N V T; Prasad, Rachapudi B N; Karuna, Mallampalli S L

      2014-12-10

      Sal fat, a nontraditional seed oil, was chemically modified to obtain base stocks with a wide range of specifications that can replace mineral oil base stocks. Sal fatty acids were enriched to 72.6% unsaturation using urea adduct method and reacted with branched mono alcohol, 2-ethylhexanol (2-EtH), and polyols namely neopentyl glycol (NPG) and trimethylolpropane (TMP) to obtain corresponding esters. The esters were hydroxylated and then acylated using propionic, butyric, and hexanoic anhydrides to obtain corresponding acylated derivatives. The acylated TMP esters exhibited very high viscosities (427.35-471.93 cSt at 40 °C) similar to those of BS 150 mineral oil base stock range, ISO VG 460, while the acylated NPG esters (268.81-318.84 cSt at 40 °C) and 2-EtH esters viscosities (20.94-24.44 cSt at 40 °C) exhibited viscosities in the range of ISO VG 320 and 22 respectively with good viscosity indices. Acylated NPG esters were found suitable for high temperature and acylated 2-ethylhexyl esters for low viscosity grade industrial applications. It was observed that the thermo-oxidative stabilities of all acylated products were found better compared to other vegetable oil based base stocks. Overall, all the sal fat based lubricant base stocks are promising candidates with a wide range of properties, which can replace most of the mineral oil base stocks with appropriate formulations.

    7. Dança de salão e lazer na sociedade contemporânea: um estudo sobre academias de Belo Horizonte

      OpenAIRE

      Tiago Tonial

      2011-01-01

      A presente pesquisa se ateve à dança de salão enquanto atividade de lazer na sociedade contemporânea belorizontina. Através da teoria do jogo (em especial de Huizinga) e do lazer (principalmente os conceitos de Gomes) procurou-se questionar, do ponto de vista teórico, a dança de salão, o objetivo foi então entender melhor o que é dança de salão. A pesquisa de campo se constituiu por formulários e entrevistas semi-estruturadas com pessoas que vivenciam a dança de salão em academias de Belo Hor...

    8. Ecología de Vibrio cholerae en relación al Fitoplancton y variables fisicoquímicas en ríos de Tucumán (Argentina Ecology of Vibrio cholerae in relation to phytoplankton and physico-chemical variables in rivers of Tucumán (Argentina

      Directory of Open Access Journals (Sweden)

      V. Mirande

      Full Text Available Vibrio cholerae muestra gran diversidad serológica en base a su antígeno somático O, conociéndose al menos 200 serogrupos. De éstos, solamente O1 y O139 son causantes de epidemias o pandemias. En Latinoamérica el serogrupo O1 reapareció en 1991, tras cien años de no presentar brotes en el continente. Esta bacteria sobrevive y se multiplica asociada al plancton, independientemente de la aparición de infecciones humanas. Desde la década del noventa, en Tucumán, se detectaron casos esporádicos de diarrea por Vibrio cholerae no-O1. El objetivo del presente trabajo fue estudiar la posible relación entre la presencia de especímenes de fitoplancton, variables fisicoquímicas y aislamientos de Vibrio cholerae en ríos de Tucumán. Se realizaron 18 campañas en los ríos Lules y Salí entre 2003-2005. Se estudiaron las variables fisicoquímicas del agua (pH, temperatura, conductividad y oxígeno disuelto, el fitoplancton (riqueza y frecuencia relativa y las cepas aisladas de V. cholerae. Los resultados evidenciaron diferencias en la calidad del agua, observándose períodos de anoxia en el río Salí. Las diatomeas sobresalieron en la mayoría de los meses y generalmente estuvieron en porcentajes superiores al 85 %. Sólo se aisló Vibrio cholerae no-O1, no-O139, detectándose más frecuentemente en los meses cálidos, con pH alcalino, aún con baja concentración de oxígeno.Vibrio cholerae shows a great serologic diversity in relation to his O somatic antigen and we know at least 200 serogroups. About these, only O1 and O139 are responsible of epidemics and pandemics. The serogroup O1 reemerged in Latin America in 1991 after being absent from the continent for nearly a century. This bacterium survives and grows up associated to plankton, independently of appearance of human infections. From 90 th decade, there were sporadic cases of diarrhea because of Vibrio cholerae O1 in Tucumán. The aims of this paper were to study the possible

    9. Rutas de circulación e intercambio de sal en la provincia de Tunja, segunda mitad del siglo XVI

      Directory of Open Access Journals (Sweden)

      Blanca Ofelia Acuña Rodriguez

      2018-02-01

      Full Text Available A través de este texto se pretende dar a conocer cómo las rutas de circulación de sal en la Provincia de Tunja contribuyeron a configurar un gran espacio económico, que integró a las provincias de Santa Fe, Pamplona y Tunja en el Nuevo Reino de Granada, durante el siglo XVI. Se partió de una reflexión historiográfica relacionada con la circulación y el comercio de la sal, los medios de transporte y las rutas usadas por los indígenas y los españoles; a partir de las cuales se consolidó un espacio económico mediado por la producción y distribución de la sal, que convirtió a la provincia de Tunja en un eje articulador de relaciones entre los sitios productores de sal en la provincia de Santa Fe y los consumidores de las provincias de Tunja y Pamplona. Esta articulación regional facilitó tanto la circulación de productos de distintos pisos térmicos, como la integración de un amplio territorio colonial. Esto debido a que la localización de Tunja como lugar de paso y conexión entre las Provincias de Santafé, Pamplona y los Llanos de San Juan, hizo de esta ciudad y sus términos un atractivo para el asentamiento hispano, a la vez que generó, durante la segunda mitad del siglo XVI, la posibilidad para que se organizaran en toda la Provincia de Tunja, sitios de aposento, venta y reventa de productos importados de España y productos de la tierra, para el sustento y abastecimiento de las necesidades básicas, y de esta forma sacar provecho de las producciones locales como la sal, el hayo, el algodón, las mantas y otros productos.

    10. BRCAness profile of sporadic ovarian cancer predicts disease recurrence.

      Directory of Open Access Journals (Sweden)

      Weiya Z Wysham

      Full Text Available The consequences of defective homologous recombination (HR are not understood in sporadic ovarian cancer, nor have the potential role of HR proteins other than BRCA1 and BRCA2 been clearly defined. However, it is clear that defects in HR and other DNA repair pathways are important to the effectiveness of current therapies. We hypothesize that a subset of sporadic ovarian carcinomas may harbor anomalies in HR pathways, and that a BRCAness profile (defects in HR or other DNA repair pathways could influence response rate and survival after treatment with platinum drugs. Clinical availability of a BRCAness profile in patients and/or tumors should improve treatment outcomes.To define the BRCAness profile of sporadic ovarian carcinoma and determine whether BRCA1, PARP, FANCD2, PTEN, H2AX, ATM, and P53 protein expression correlates with response to treatment, disease recurrence, and recurrence-free survival.Protein microarray analysis of ovarian cancer tissue was used to determine protein expression levels for defined DNA repair proteins. Correlation with clinical and pathologic parameters in 186 patients with advanced stage III-IV and grade 3 ovarian cancer was analyzed using Chi square, Kaplan-Meier method, Cox proportional hazard model, and cumulative incidence function.High PARP, FANCD2 and BRCA1 expressions were significantly correlated with each other; however, elevated p53 expression was associated only with high PARP and FANCD2. Of all patients, 9% recurred within the first year. Among early recurring patients, 41% had high levels of PARP, FANCD2 and P53, compared to 19.5% of patients without early recurrence (p = 0.04. Women with high levels of PARP, FANCD2 and/or P53 had first year cumulative cancer incidence of 17% compared with 7% for the other groups (P = 0.03.Patients with concomitantly high levels of PARP, FANCD2 and P53 protein expression are at increased risk of early ovarian cancer recurrence and platinum resistance.

    11. Aberrant gene promoter methylation associated with sporadic multiple colorectal cancer.

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      Victoria Gonzalo

      Full Text Available BACKGROUND: Colorectal cancer (CRC multiplicity has been mainly related to polyposis and non-polyposis hereditary syndromes. In sporadic CRC, aberrant gene promoter methylation has been shown to play a key role in carcinogenesis, although little is known about its involvement in multiplicity. To assess the effect of methylation in tumor multiplicity in sporadic CRC, hypermethylation of key tumor suppressor genes was evaluated in patients with both multiple and solitary tumors, as a proof-of-concept of an underlying epigenetic defect. METHODOLOGY/PRINCIPAL FINDINGS: We examined a total of 47 synchronous/metachronous primary CRC from 41 patients, and 41 gender, age (5-year intervals and tumor location-paired patients with solitary tumors. Exclusion criteria were polyposis syndromes, Lynch syndrome and inflammatory bowel disease. DNA methylation at the promoter region of the MGMT, CDKN2A, SFRP1, TMEFF2, HS3ST2 (3OST2, RASSF1A and GATA4 genes was evaluated by quantitative methylation specific PCR in both tumor and corresponding normal appearing colorectal mucosa samples. Overall, patients with multiple lesions exhibited a higher degree of methylation in tumor samples than those with solitary tumors regarding all evaluated genes. After adjusting for age and gender, binomial logistic regression analysis identified methylation of MGMT2 (OR, 1.48; 95% CI, 1.10 to 1.97; p = 0.008 and RASSF1A (OR, 2.04; 95% CI, 1.01 to 4.13; p = 0.047 as variables independently associated with tumor multiplicity, being the risk related to methylation of any of these two genes 4.57 (95% CI, 1.53 to 13.61; p = 0.006. Moreover, in six patients in whom both tumors were available, we found a correlation in the methylation levels of MGMT2 (r = 0.64, p = 0.17, SFRP1 (r = 0.83, 0.06, HPP1 (r = 0.64, p = 0.17, 3OST2 (r = 0.83, p = 0.06 and GATA4 (r = 0.6, p = 0.24. Methylation in normal appearing colorectal mucosa from patients with multiple and solitary CRC showed no relevant

    12. Consumo elevado de sal autorreferido em adultos: dados da Pesquisa Nacional de Saúde, 2013

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      Max Moura de Oliveira

      Full Text Available OBJETIVOS:descrever a prevalência de consumo elevado de sódio autorreferido em adultos e comparar resultados das capitais brasileiras e Distrito Federal, coletados pela Pesquisa Nacional de Saúde (PNS e pelo Sistema de Vigilância de Fatores de Risco e Proteção para Doenças Crônicas por Inquérito Telefônico (Vigitel, ambos de 2013.MÉTODOS:estudo descritivo utilizando dados da PNS e Vigitel, estimando prevalências e intervalos de confiança (IC95%.RESULTADOS:segundo a PNS, 14,2% (IC95%:13,6%-14,7% dos adultos referiram consumo elevado de sal, com prevalência maior em homens (16,1%; IC95%:15,3-16,9, indivíduos de 18-29 anos de idade (17,7%; IC95%:16,2-19,2, com Ensino Superior completo (17,3%; IC95%:15,6-19,0, residentes na área urbana (14,8%; IC95%:13,6-14,7 e na macrorregião Sul (18,2%; IC95%:16,8-19,7; no total das capitais, não houve diferenças entre PNS (15,0%; IC95%:14,2-15,8 e Vigitel (16,0%; IC95%:15,3-16,6, porém observaram-se diferenças significativas para Rio Branco e Aracaju.CONCLUSÃO:encontrou-se prevalências elevadas, semelhantes em ambos estudos, reforçando a importância do Vigitel para monitoramento.

    13. Simulating SAL formation and aerosol size distribution during SAMUM-I

      KAUST Repository

      Khan, Basit Ali

      2015-04-01

      To understand the formation mechanisms of Saharan Air Layer (SAL), we combine model simulations and dust observations collected during the first stage of the Saharan Mineral Dust Experiment (SAMUM-I), which sampled dust events that extended from Morocco to Portugal, and investigated the spatial distribution and the microphysical, optical, chemical, and radiative properties of Saharan mineral dust. We employed the Weather Research Forecast model coupled with the Chemistry/Aerosol module (WRF-Chem) to reproduce the meteorological environment and spatial and size distributions of dust. The experimental domain covers northwest Africa including the southern Sahara, Morocco and part of the Atlantic Ocean with 5 km horizontal grid spacing and 51 vertical layers. The experiments were run from 20 May to 9 June 2006, covering the period of most intensive dust outbreaks. Comparisons of model results with available airborne and ground-based observations show that WRF-Chem reproduces observed meteorological fields as well as aerosol spatial distribution across the entire region and along the airplane\\'s tracks. We evaluated several aerosol uplift processes and found that orographic lifting, aerosol transport through the land/sea interface with steep gradients of meteorological characteristics, and interaction of sea breezes with the continental outflow are key mechanisms that form a surface-detached aerosol plume over the ocean. Comparisons of simulated dust size distributions with airplane and ground-based observations are generally good, but suggest that more detailed treatment of microphysics in the model is required to capture the full-scale effect of large aerosol particles.

    14. A Unifying Hypothesis for Familial and Sporadic Alzheimer's Disease

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      Carole J. Proctor

      2012-01-01

      Full Text Available Alzheimer's disease (AD is characterised by the aggregation of two quite different proteins, namely, amyloid-beta (Aβ, which forms extracellular plaques, and tau, the main component of cytoplasmic neurofibrillary tangles. The amyloid hypothesis proposes that Aβ plaques precede tangle formation but there is still much controversy concerning the order of events and the linkage between Aβ and tau alterations is still unknown. Mathematical modelling has become an essential tool for generating and evaluating hypotheses involving complex systems. We have therefore used this approach to discover the most probable pathway linking Aβ and tau. The model supports a complex pathway linking Aβ and tau via GSK3β, p53, and oxidative stress. Importantly, the pathway contains a cycle with multiple points of entry. It is this property of the pathway which enables the model to be consistent with both the amyloid hypothesis for familial AD and a more complex pathway for sporadic forms.

    15. Physical function and muscle strength in sporadic inclusion body myositis

      DEFF Research Database (Denmark)

      Jørgensen, Anders N; Aagaard, Per; Nielsen, Jakob L

      2017-01-01

      INTRODUCTION: In this study, self-reported physical function, functional capacity, and isolated muscle function were investigated in sporadic inclusion body myositis (sIBM) patients. METHODS: The 36-item Short Form (SF-36) Health Survey and 2-min walk test (2MWT), timed up & go test (TUG), and 30-s...... chair stand performance were evaluated. In addition, patients were tested for knee extensor muscle strength (isokinetic dynamometer) and leg extension power (Nottingham power rig). RESULTS: TUG performance was the strongest predictor of self-reported physical function (r(2) = 0.56, P ... to sensitively predict self-perceived physical function in sIBM patients. Notably, between-limb asymmetry in lower limb muscle strength had a substantial negative impact on motor tasks involving gait function. Muscle Nerve, 2017....

    16. Sporadic Insulinoma Presenting as Early Morning Night Terrors.

      Science.gov (United States)

      Beisang, Daniel; Forlenza, Gregory P; Luquette, Mark; Sarafoglou, Kyriakie

      2017-06-01

      A 16-year-old boy with a recent diagnosis of night terrors was evaluated for recurrent early morning hypoglycemia after an early morning seizure. Evaluation in clinic with critical laboratories identified hyperinsulinemic hypoglycemia. Additional investigation revealed a sporadic insulinoma as the etiology of his hypoglycemia and all symptoms were resolved after pancreaticoduodenectomy. The importance of obtaining critical laboratory samples is highlighted and appropriate radiologic, medical, and pathologic testing is discussed. We additionally review the medical and surgical management of hyperinsulinemic hypoglycemia. A discussion of multiple endocrine neoplasia type 1 associated insulinomas is included as well. This case highlights the importance of considering hypoglycemia in the evaluation of night terrors and new-onset seizures. Copyright © 2017 by the American Academy of Pediatrics.

    17. Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease.

      Science.gov (United States)

      Bagnoli, Silvia; Nacmias, Benedetta; Tedde, Andrea; Guarnieri, Bianca Maria; Cellini, Elena; Ciantelli, Monica; Petruzzi, Concetta; Bartoli, Antonella; Ortenzi, Luigi; Serio, Antonio; Sorbi, Sandro

      2002-08-16

      A recent study has shown that a genetic variation in the Cathepsin D (catD) gene is a major risk factor for the development of Alzheimer's disease (AD). CatD is an intracellular aspartyl protease involved in neurodegeneration. A C-->T (Ala-->Val) transition at position 224 has been associated with altered intracellular maturation. Recently, a significant overrepresentation of the T allele of the catD gene in AD patients compared with controls was reported. However, this finding has not yet been confirmed. We analyzed the distribution of catD and apolipoprotein E polymorphisms in Italian patients with sporadic and familial AD (FAD). Our studies revealed that the distribution of catD polymorphism did not differ in AD and FAD patients and controls. Thus, our data do not support a role for the catD gene as a genetic risk factor in the development of AD.

    18. Retención y Penetración en Estacones de Eucalyptus Saligna. Sometidos a Tratamiento con CuSO4 y Sal CCC, en Baño Caliente y frio y Vacio-Presión

      Directory of Open Access Journals (Sweden)

      Escobar C. Oscar

      1987-09-01

      Full Text Available Este trabajo describe y da los resultados obtenidos con el pretratamiento de estacones de Eucalyptus saligna a tres soluciones de CUS04 y su posterior tratamiento con sales CCA (OSMOSE K-33. El sulfato de cobre se aplicó por el método de baño caliente y frío, seguido por el proceso de difusión durante una semana; para los anteriores tratamientos se usó madera verde o parcialmente seca al aire; las sales CCA se aplicaron a madera seca por el método de vacío-presión. Una de las razones para llevar a cabo este refuerzo de las sales CCA, es haber encontrado postes de eucalipto severamente atacados por hongos, en especial con pudrición blanda. Los estacones fueron tratados inicialmente con soluciones de sulfato de cobre a 1 %, 2% y 3% de concentración; luego los estacones fueron tratados con una solución de sal CCA al 2.5% de concentración por vacío-presión. Se usaron 40 estacones distribuídos en 4 grupos de 10: tres (3 grupos fueron usados para el tratamiento con las soluciones de CUS04 y solución de CCA; el grupo restante fue tratado con la sal CCA únicamente, el cual fue usado como grupo testigo para fines de comparación en los ensayos de campo (cementerios.

    19. Domates Salçalarının Mikroflorası ve Depolama Sürecinde Miktarlarındaki Değişiklikler

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      Fikri Başoğlu

      2015-02-01

      Full Text Available - Ticari sterilize edilen domates salçasının muhafazası esnasında sterilliği azalmaktadır. 12 aylık muhafaza süresinde sterillik %100’den %15 ve 8’e hatta daha aza düşebilir. - Pastörizasyonda tatbik edilen sıcaklık derecesi (89-93 oC laktik asit bakterileri ile maya ve küflerin yaşamasına imkan vermemektedir. - Domates salçasının kalıntı mikroflorasını umumiyetle spor yapan bakteriler (B. subtilis, B. mesentericus, B. cereus ..... temsil etmektedir. - Domates salçasının kuru maddesi %28-30 veya %38-40 olması B. subtilis ve B. mesentericus’un ölmesine tesir etmemektedir. - Salçanın 10-15 oC ta muhafaza edilmesi termofil mikroorganizmaların çoğalmasına engel olmaktadır. - Salçanın pH’sı yükseltilirse sporlar çabuk gelişmektedir. - Hermetikli kapatmadaki hatalarda laktik asit bakterileri ve mayalar salçayı bozmaktadırlar. - Salçada bulunan bazı sporlu ve sporsuz mikroorganizmaların termal ölüm müddetlerine ortamın pH’sı, organik asitler ve spor konsantrasyonu etki etmektedir.

    20. Sporadic Ca and Ca+ layers at mid-latitudes: Simultaneous observations and implications for their formation

      Directory of Open Access Journals (Sweden)

      M. Gerding

      2001-01-01

      Full Text Available We report on the observations of 188 sporadic layers of either Ca atoms and/or Ca ions that we have observed during 112 nights of lidar soundings of Ca, and 58 nights of Ca+ soundings, at Kühlungsborn, Germany (54° N, 12° E. The Ca+ soundings have been performed simultaneously and in a common volume with the Ca soundings by two separate lidars. Correlations between sporadic neutral and ionized metal layers are demonstrated through four case studies. A systematic study of the variations of occurrence of sporadic Ca and Ca+ layers reveals that neutral and ionized Ca layers are not as closely correlated as expected earlier: (a The altitude distribution shows the simultaneous occurrence of both sporadic Ca and Ca+ layers to be most likely only in the narrow altitude range between 90 and 95 km. Above that region, in the lower thermosphere, the sporadic ion layers are much more frequent than atom layers. Below 90 km only very few sporadic layers have been observed; (b The seasonal variation of sporadic Ca layers exhibits a minimum of occurrence in summer, while sporadic Ca+ layers do not show a significant seasonal variation (only the dense Ca+ layers appear to have a maximum in summer. At mid-latitudes sporadic Ca layers are more frequent than sporadic layers of other atmospheric metals like Na or K. For the explanation of our observations new formation mechanisms are discussed.Key words. Ionosphere (ion chemistry and composition; ionosphere-atmosphere interactions; mid-latitude ionosphere

    1. Toxicidade aguda ao sal comum e larvicultura intensiva do jundiá Rhamdia quelen em água salobra

      Directory of Open Access Journals (Sweden)

      T.E.H.P. Fabregat

      2015-04-01

      Full Text Available A tolerância de peixes de água doce à salinidade e os níveis adequados de náuplios de Artemia na alimentação durante a larvicultura são de extrema importância para a padronização dos manejos em ambientes de criação intensiva. Dessa forma, o objetivo do trabalho foi estimar a salinidade letal (SL50 para larvas de jundiá Rhamdia quelen e determinar o efeito da salinidade e da concentração de presas vivas na larvicultura intensiva. No primeiro ensaio, larvas ao final do período lecitotrófico (1,1±0,8mg foram submetidas às salinidades de 0, 2, 4, 6, 8, 10, 15 e 20g de sal/L por um período de 96h. No segundo experimento, as larvas de jundiá, no início da alimentação exógena (1,2±0,3mg, foram submetidas a três salinidades (água doce 0, 2 e 4g de sal/L e três concentrações de presas vivas (início: 300, 500, 700 náuplios de Artemia/larvas/dia, sendo esse montante aumentado a cada cinco dias. O experimento foi realizado em delineamento inteiramente ao acaso, em esquema fatorial 3x3, por um período de 15 dias. No experimento 1, as larvas de jundiá submetidas às salinidades de 10, 15 e 20g de sal/L morreram após 12, duas e uma hora de exposição, respectivamente. As SL50 de 72 e 96h foram estimadas em 9,93 e 4,95g de sal/L, respectivamente. No final do teste de toxicidade, não houve diferença na sobrevivência entre as salinidades de 0, 2 e 4g de sal/L. No experimento 2, não foi observado efeito da interação entre salinidade e concentração de presas para o peso e o comprimento. Quanto maior a quantidade de presas, maior o crescimento das larvas. A sobrevivência apresentou interação entre os fatores. O aumento da salinidade proporcionou uma diminuição da sobrevivência, independentemente da concentração de presas. Dessa forma, conclui-se que a SL50 diminuiu com o aumento do tempo de exposição à água salinizada e que a larvicultura da espécie pode ser realizada em salinidades de até 2g de sal/L, com

    2. ELABORAÇÃO DE PÃO DE SAL UTILIZANDO FARINHA MISTA DE TRIGO E LINHAÇA

      Directory of Open Access Journals (Sweden)

      T. M. OLIVEIRA

      2008-11-01

      Full Text Available

      A linhaça (Linum usitatissimum L. é uma semente que possui compostos fisiologicamente ativos, sendo fonte de fibras, ômega-3 e lignanas. Seu consumo vem sendo associado à prevenção de algumas doenças e a benefícios nutricionais. O objetivo desse trabalho foi testar a viabilidade de utilização de uma farinha mista, composta de trigo e linhaça na produção de pão de sal através da avaliação das características físico-químicas, sensoriais e tecnológicas do pão. Testes preliminares de farinografia, extensografia e panificação experimental foram realizados para determinaçãoda melhor formulação, que foi utilizada para produção do pão em uma panificadora comercial. Esse pão foi avaliado quanto a características físico-químicas, sensoriais e de textura. A adição de farinha de linhaça ao pão de sal na proporção de 10% mostrou ser viável tecnicamente, com uma excelente aceitação pelos consumidores, sabor agradável e características físico-químicas similares ao pão de sal tradicional, representando uma opção mais nutritiva e saborosa para a alimentação diária de vários consumidores.

    3. Yoduria y concentración de yodo en sal de consumo en escolares peruanos del nivel primario

      Directory of Open Access Journals (Sweden)

      Carolina Tarqui-Mamani

      Full Text Available Objetivos. Determinar la yoduria y concentración de yodo sal de consumo en escolares peruanos del nivel primario. Materiales y métodos. Se realizó un estudio transversal. Se incluyó 8023 escolares del nivel primario, que participaron voluntariamente. Se realizó un muestreo probabilístico, multietápico y estratificado, la selección se realizó por muestreo sistemático. La determinación de yoduria se realizó por espectrofotometría (método de Sandell-Kolthoff y la evaluación de yodo en sal se realizó por volumetría. El procesamiento de datos se realizó mediante análisis para muestras complejas con factor de ponderación. Se calculó medianas, percentiles e intervalos de confianza, se usó la prueba de U Mann Whitney y Kruskall Wallis cuando correspondía. Resultados. A nivel nacional, la mediana de yoduria en los escolares fue 258,53 ug/L, siendo mayor en los varones (265,90 ug/L que en las mujeres (250,77 ug/L. La mediana de yoduria en el área urbana fue mayor (289,89 ug/L que en el área rural (199,67 ug/L, mientras que en los colegios privados fue 315,48 ug/L y en los públicos fue 241,56 ug/L (p<0,001. La mediana de yodo en sal fue 28,69 mg/kg. El 23,1% de las muestras de sal, tuvieron menos de 15 mg/kg de yodo. Conclusiones. La mediana de yoduria en los escolares del nivel primario presenta niveles superiores a las necesarias, según lo recomendado por la OMS, con diferencias entre la zona urbana y rural, y colegios públicos y privados.

    4. OPTIMIZACIÓN DE LA LOGÍSTICA DE OPERACIONES DE UNA PLANTA DE MOLIENDA DE SAL

      Directory of Open Access Journals (Sweden)

      Oscar Araya Pasten

      2001-09-01

      Full Text Available

      El presente trabajo tuvo como objetivo desarrollar un modelo de simulación mediante el uso del software Awesim para optimizar el sistema de producción y transporte de sal de una empresa minera del norte de Chile, con la finalidad de incrementar la productividad mediante la reducción de los tiempos de detención de la planta de producción, compatibilizando los ciclos de llenado de las tolvas de almacenamiento con los ciclos de transporte de los camiones.

    5. OPTIMIZACIÓN DE LA LOGÍSTICA DE OPERACIONES DE UNA PLANTA DE MOLIENDA DE SAL

      OpenAIRE

      Raúl Zúñiga Arriaza

      2001-01-01

      El presente trabajo tuvo como objetivo desarrollar un modelo de simulación mediante el uso del software Awesim para optimizar el sistema de producción y transporte de sal de una empresa minera del norte de Chile, con la finalidad de incrementar la productividad mediante la reducción de los tiempos de detención de la planta de producción, compatibilizando los ciclos de llenado de las tolvas de almace...

    6. OPTIMIZACIÓN DE LA LOGÍSTICA DE OPERACIONES DE UNA PLANTA DE MOLIENDA DE SAL

      Directory of Open Access Journals (Sweden)

      Raúl Zúñiga Arriaza

      2001-01-01

      Full Text Available

      El presente trabajo tuvo como objetivo desarrollar un modelo de simulación mediante el uso del software Awesim para optimizar el sistema de producción y transporte de sal de una empresa minera del norte de Chile, con la finalidad de incrementar la productividad mediante la reducción de los tiempos de detención de la planta de producción, compatibilizando los ciclos de llenado de las tolvas de almacenamiento con los ciclos de transporte de los camiones.

    7. Modulation de la perception du goût salé par reformulation de matrices alimentaires

      OpenAIRE

      Thomas Danguin, Thierry; Guichard, Elisabeth

      2014-01-01

      La consommation excessive de sel participe au développement des maladies cardiovasculaires. C’est pourquoi les autorités sanitaires ont émis des recommandations visant à diminuer la teneur en sel des aliments. Toutefois, la réduction du taux de sel dans les aliments entraîne une forte diminution de leur appréciation et de leur acceptabilité par les consommateurs. Pour tenter de remédier à cette difficulté, des études visant à compenser la diminution de la perception de la saveur salée...

    8. Predictors of Preoperative Tinnitus in Unilateral Sporadic Vestibular Schwannoma

      Directory of Open Access Journals (Sweden)

      Georgios Naros

      2017-08-01

      Full Text Available ObjectiveNearly two-thirds of patients with vestibular schwannoma (VS are reporting a significantly impaired quality of life due to tinnitus. VS-associated tinnitus is attributed to an anatomical and physiological damage of the hearing nerve by displacing growth of the tumor. In contrast, the current pathophysiological concept of non-VS tinnitus hypothesizes a maladaptive neuroplasticity of the central nervous system to a (hidden hearing impairment resulting in a subjective misperception. However, it is unclear whether this concept fits to VS-associated tinnitus. This study aims to determine the clinical predictors of VS-associated tinnitus to ascertain the compatibility of both pathophysiological concepts.MethodsThis retrospective study includes a group of 478 neurosurgical patients with unilateral sporadic VS evaluated preoperatively regarding the occurrence of ipsilateral tinnitus depending on different clinical factors, i.e., age, gender, tumor side, tumor size (T1–T4 according to the Hannover classification, and hearing impairment (Gardner–Robertson classification, GR1–5, using a binary logistic regression.Results61.8% of patients complain about a preoperative tinnitus. The binary logistic regression analysis identified male gender [OR 1.90 (1.25–2.75; p = 0.002] and hearing impairment GR3 [OR 1.90 (1.08–3.35; p = 0.026] and GR4 [OR 8.21 (2.29–29.50; p = 0.001] as positive predictors. In contrast, patients with large T4 tumors [OR 0.33 (0.13–0.86; p = 0.024] and complete hearing loss GR5 [OR 0.36 (0.15–0.84; p = 0.017] were less likely to develop a tinnitus. Yet, 60% of the patients with good clinical hearing (GR1 and 25% of patients with complete hearing loss (GR5 suffered from tinnitus.ConclusionThese data are good accordance with literature about non-VS tinnitus indicating hearing impairment as main risk factor. In contrast, complete hearing loss appears a negative predictor for tinnitus. For the first

    9. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.

      Science.gov (United States)

      Bayley, Jean-Pierre; Kunst, Henricus P M; Cascon, Alberto; Sampietro, Maria Lourdes; Gaal, José; Korpershoek, Esther; Hinojar-Gutierrez, Adolfo; Timmers, Henri J L M; Hoefsloot, Lies H; Hermsen, Mario A; Suárez, Carlos; Hussain, A Karim; Vriends, Annette H J T; Hes, Frederik J; Jansen, Jeroen C; Tops, Carli M; Corssmit, Eleonora P; de Knijff, Peter; Lenders, Jacques W M; Cremers, Cor W R J; Devilee, Peter; Dinjens, Winand N M; de Krijger, Ronald R; Robledo, Mercedes

      2010-04-01

      Paragangliomas and phaeochromocytomas are neuroendocrine tumours associated frequently with germline mutations of SDHD, SDHC, and SDHB. Previous studies have shown the imprinted SDHAF2 gene to be mutated in a large Dutch kindred with paragangliomas. We aimed to identify SDHAF2 mutation carriers, assess the clinical genetic significance of SDHAF2, and describe the associated clinical phenotype. We undertook a multicentre study in Spain and The Netherlands in 443 apparently sporadic patients with paragangliomas and phaeochromocytomas who did not have mutations in SDHD, SDHC, or SDHB. We analysed DNA of 315 patients for germline mutations of SDHAF2; a subset (n=200) was investigated for gross gene deletions. DNA from a group of 128 tumours was studied for somatic mutations. We also examined a Spanish family with head and neck paragangliomas with a young age of onset for the presence of SDHAF2 mutations, undertook haplotype analysis in this kindred, and assessed their clinical phenotype. We did not identify any germline or somatic mutations of SDHAF2, and no gross gene deletions were noted in the subset of apparently sporadic patients analysed. Investigation of the Spanish family identified a pathogenic germline DNA mutation of SDHAF2, 232G-->A (Gly78Arg), identical to the Dutch kindred. SDHAF2 mutations do not have an important role in phaeochromocytoma and are rare in head and neck paraganglioma. Identification of a second family with the Gly78Arg mutation suggests that this is a crucial residue for the function of SDHAF2. We conclude that SDHAF2 mutation analysis is justified in very young patients with isolated head and neck paraganglioma without mutations in SDHD, SDHC, or SDHB, and in individuals with familial antecedents who are negative for mutations in all other risk genes. Dutch Cancer Society, European Union 6th Framework Program, Fondo Investigaciones Sanitarias, Fundación Mutua Madrileña, and Red Temática de Investigación Cooperativa en Cáncer. 2010

    10. Sporadic cases of adult measles: a research article.

      Science.gov (United States)

      Premaratna, Ranjan; Luke, Nathasha; Perera, Harsha; Gunathilake, Mahesh; Amarasena, Pubudu; Chandrasena, T G A Nilmini

      2017-01-10

      Measles caused by a paramyxovirus, characterized by fever, malaise, cough, coryza conjunctivitis, a maculopapular rash is known to result in pneumonia, encephalitis and death. Fatal cases of measles in Sri Lanka are rare after implementation of the National Immunization Programme in 1984. Thereafter 0.1% case fatality rate was observed during October 1999-June 2000 which is a very low figure compared to other regional countries. Immunization guidelines were further revised in 2001, 2011 and in 2012 when additional immunization was recommended to age group 4-21 years; who are likely to have inadequate immunization, in order to achieve elimination of Measles by 2020. However, in 2013-2014, 4690 cases were reported and the majority were children less than 1 year of age. The occurrence in adults is hard to retrieve in published epidemiological reports, however had been 38% (out of 1008 patients) in the 3rd quarter of 2013. During this outbreak 73/101 (72%) reported from the North Central Province of Sri Lanka had been more than 12 years of age with 50% being more than 29 years. 14 Sri lankan adult patients [median age 32 years (range 25-48)] who presented sporadically from June 2014 to March 2016, with confirmed measles infection were enrolled retrospectively after informed consent. Details with regards to their clinical presentation, immunization and other relevant areas were collected using an interviewer administered questionnaire or using patient management records. The patients presented with high fever, headache, severe body aches, sore throat, dry cough, intense tearing, red eyes and posterior cervical lymphadenopathy over 3-5 days duration. Later they developed discrete maculopapular rash helping the diagnosis. They had a variable degree of leucopenia, lymphocytosis, thrombocytopenia and derangements in the liver functions mimicking any other acute febrile illnesses such as dengue, chikungunya, leptospirosis or Zika virus infection. At least a 3-5

    11. Global transcriptional and phenotypic analyses of Escherichia coli O157:H7 strain Xuzhou21 and its pO157_Sal cured mutant.

      Science.gov (United States)

      Zhao, Hongqing; Chen, Chen; Xiong, Yanwen; Xu, Xuefang; Lan, Ruiting; Wang, Haiyin; Yao, Xinyue; Bai, Xiangning; Liu, Xuetong; Meng, Qiong; Zhang, Xiaoai; Sun, Hui; Zhao, Ailan; Bai, Xuemei; Cheng, Yuli; Chen, Qiang; Ye, Changyun; Xu, Jianguo

      2013-01-01

      Escherichia coli O157:H7 is an important food-borne pathogen that can cause hemorrhagic colitis and hemolytic-uremic syndrome in humans. pO157_Sal, a novel conjugative plasmid is present in a Chinese O157:H7 outbreak strain Xuzhou21. Here we investigated the phenotypic and transcriptional differences between the wild type strain Xuzhou21 and the pO157_Sal cured mutant strain Xuzhou21m. RNA-Seq analysis found that all 52 ORFs encoded on pO157_Sal were transcribed. One hundred and sixty eight chromosomal and pO157 genes were differentially expressed (≥2 fold difference) between Xuzhou21 and Xuzhou21m. Sixty-seven and 101 genes were up-regulated and down-regulated respectively by pO157_Sal including genes related to stress response, adaption and virulence. The plasmid-cured mutant Xuzhou21m grew slower than wild type Xuzhou21 and pO157_Sal plasmid complemented strain Xuzhou21c in M9 medium under the condition of high NaCl or presence of sodium deoxycholate (NaDC), corroborating with the RNA-Seq data. Seven differentially expressed genes are associated with NaDC resistance, including the adenine-specific DNA-methyltransferase gene (dam), multidrug efflux system subunit gene mdtA, hyperosmotically inducible periplasmic protein gene osmY and oxidation-reduction related genes while two differentially expressed genes (osmY and pspD) are likely to be related to resistance to osmotic pressure. A number of differentially expressed genes were virulence associated including four genes encoding T3SS effectors from the chromosome and ehxD from pO157. Through complementation of Xuzhou21m with a plasmid construct carrying the pO157_Sal hha homolog we further showed that the pO157_Sal hha represses the expression of T3SS effectors. These findings demonstrated that the plasmid pO157_Sal affects the transcription of the chromosomal and pO157 plasmid genes and contributes to the enhanced ability to resist stress. We conclude that pO157_Sal plays an important role in regulating global

    12. Global transcriptional and phenotypic analyses of Escherichia coli O157:H7 strain Xuzhou21 and its pO157_Sal cured mutant.

      Directory of Open Access Journals (Sweden)

      Hongqing Zhao

      Full Text Available Escherichia coli O157:H7 is an important food-borne pathogen that can cause hemorrhagic colitis and hemolytic-uremic syndrome in humans. pO157_Sal, a novel conjugative plasmid is present in a Chinese O157:H7 outbreak strain Xuzhou21. Here we investigated the phenotypic and transcriptional differences between the wild type strain Xuzhou21 and the pO157_Sal cured mutant strain Xuzhou21m. RNA-Seq analysis found that all 52 ORFs encoded on pO157_Sal were transcribed. One hundred and sixty eight chromosomal and pO157 genes were differentially expressed (≥2 fold difference between Xuzhou21 and Xuzhou21m. Sixty-seven and 101 genes were up-regulated and down-regulated respectively by pO157_Sal including genes related to stress response, adaption and virulence. The plasmid-cured mutant Xuzhou21m grew slower than wild type Xuzhou21 and pO157_Sal plasmid complemented strain Xuzhou21c in M9 medium under the condition of high NaCl or presence of sodium deoxycholate (NaDC, corroborating with the RNA-Seq data. Seven differentially expressed genes are associated with NaDC resistance, including the adenine-specific DNA-methyltransferase gene (dam, multidrug efflux system subunit gene mdtA, hyperosmotically inducible periplasmic protein gene osmY and oxidation-reduction related genes while two differentially expressed genes (osmY and pspD are likely to be related to resistance to osmotic pressure. A number of differentially expressed genes were virulence associated including four genes encoding T3SS effectors from the chromosome and ehxD from pO157. Through complementation of Xuzhou21m with a plasmid construct carrying the pO157_Sal hha homolog we further showed that the pO157_Sal hha represses the expression of T3SS effectors. These findings demonstrated that the plasmid pO157_Sal affects the transcription of the chromosomal and pO157 plasmid genes and contributes to the enhanced ability to resist stress. We conclude that pO157_Sal plays an important role in

    13. Empleo de factores de conversión en cálculos estequiométricos. Valoración ácido-base de una sal doble.

      OpenAIRE

      Milla González, Miguel

      2011-01-01

      Se valora una sal doble constituida por carbonato, hidrogenocarbonato y agua de hidratación. Se debe encontrar la masa molar de la sal y su composición en términos de moléculas de cada especie en la sal, utilizando la valoración con fenolftaleína seguida por la valoracón con naranja de metilo. La particularidad del ejercicio es que el factor de conversión contiene las incógnitas (número de moléculas de hidrogenocarbonato y de agua de la sal analizada).

    14. Radiosurgical treatment of sporadic vestibular schwannomas: A prospective cohort study

      International Nuclear Information System (INIS)

      Martel V, Freddy; Iniguez S, Rodrigo; Venencia M, Daniel; Tagle M, Patricio; Besa D, Pelayo; Lorenzoni S, Jose

      2008-01-01

      Objective: To analyze the preliminary experience of radiosurgery for Vestibular Schwannomas at the Pontificia Universidad Catolica de Chile. Material and methods: The first 17 patients with sporadic Vestibular Schwannomas treated by radiosurgery at our institution are reported. The marginal dose used was 12 to 12.5 Gy. prescribed at the 70 or 80 isodose fine. Patients were controlled at 6, 12 and 24 months with magnetic resonance, audiometric study and clinical examination. Results: In all of the 17 patients treated a decrease tumor enhancement on MR was demonstrated. In 16 patients (94%) a pattern of central tumor necrosis was observed during the firs year Actuarial useful hearing was maintained in 62.5% at 2 year after treatment. Facial nerve function was maintained in all of the 15 patients with normal function at treatment (100%). Trigeminal function was maintained in ah of the 14 patients (100%) with previous normal trigeminal function. The mean time to return to work or normal activities was 11.5 days after treatment. Conclusions: These preliminary results are comparable with results published in the literature and reinforce the demonstrate role of radiosurgery in the management of vestibular schwannomas

    15. A review of drug therapy for sporadic fatal insomnia.

      Science.gov (United States)

      Tabaee Damavandi, Pardis; Dove, Martin T; Pickersgill, Richard W

      2017-09-03

      Sporadic fatal insomnia (sFI) is a rapid progressive neurodegenerative disease characterised by gradual to perpetual insomnia, followed by dysautonomia, coma and death. 1 The cause of sFI was recently mapped to a mutation in a protein, the prion, found in the human brain. It is the unfolding of the prion that leads to the generation of toxic oligomers that destroy brain tissue and function. Recent studies have confirmed that a methionine mutation at codon 129 of the human Prion is characteristic of sFI. Current treatment slows down the progression of the disease, but no cure has been found, yet. We used Molecular Docking and Molecular Dynamics simulation methods, to study the toxic Fatal-Insomnia-prion conformations at local unfolding. The idea was to determine these sites and to stabilise these regions against unfolding and miss-folding, using a small ligand, based on a phenothiazine "moiety". As a result we here discuss current fatal insomnia therapy and present seven novel possible compounds for in vitro and in vivo screening.

    16. Facing and managing natural disasters in the Sporades islands, Greece

      Science.gov (United States)

      Karanikola, P.; Panagopoulos, T.; Tampakis, S.; Karantoni, M. I.; Tsantopoulos, G.

      2014-04-01

      The region of the Sporades islands located in central Greece is at the mercy of many natural phenomena, such as earthquakes due to the marine volcano Psathoura and the rift of Anatolia, forest fires, floods, landslides, storms, hail, snowfall and frost. The present work aims at studying the perceptions and attitudes of the residents regarding how they face and manage natural disasters. A positive public response during a hazard crisis depends not only upon the availability and good management of a civil defense plan but also on the knowledge and perception of the possible hazards by the local population. It is important for the stakeholders to know what the citizens expect so that the necessary structures can be developed in the phase of preparation and organization. The residents were asked their opinion about what they think should be done by the stakeholders after a catastrophic natural disaster, particularly about the immediate response of stakeholders and their involvement and responsibilities at different, subsequent intervals of time following the disaster. The residents were also asked about the most common disasters that happen in their region and about the preparation activities of the stakeholders.

    17. [Lung transplantation in sporadic lymphangioleiomyomatosis: study of 7 cases].

      Science.gov (United States)

      Ansótegui Barrera, Emilio; Mancheño Franch, Nuria; Peñalver Cuesta, Juan Carlos; Vera-Sempere, Francisco; Padilla Alarcón, José

      2013-10-19

      Sporadic lymphangioleiomyomatosis (S-LAM) is a rare disease that affects only women. It is characterized by an abnormal proliferation of immature smooth muscle cells (LAM cells) that grow in an aberrant manner in the airway, parenchymal lung lymph and blood vessels, determining the onset of pulmonary cystic lesions. The disease has no treatment, progressing to respiratory failure, and lung transplantation (LT) may be a treatment option at this stage. Our goal was to study 7 patients undergoing LT for S-LAM. We studied a series of clinical and demographic characteristics, diagnostic modality and post-transplant outcomes. We performed a descriptive analysis of the series. The Kaplan-Meier method was used to estimate survival. The mean age of onset of symptoms was 35 years, the diagnosis of 37 years and that of LT 38 years. The most common symptom was dyspnea. Four patients had a history of pneumothorax and pleural effusion. The mean forced expiratory volume in one second was 32.7% and the diffusing capacity for carbon monoxide was 29%. All patients were subjected to LT and survival was 100, 85.7 and 57.1% at one, 3 and 5 years, respectively. Three died of bronchiolitis obliterans and 2 necropsies did not show evidence of disease recurrence. LT is a therapeutic option in patients with S-LAM with an advanced respiratory functional impairment. Copyright © 2013 Elsevier España, S.L. All rights reserved.

    18. Thyroid Sporadic Goiter with Adult Heterotopic Bone Formation

      Directory of Open Access Journals (Sweden)

      Adriana Handra-Luca

      2015-01-01

      Full Text Available Thyroid heterotopic bone formation (HBF in goiter is a rare finding. Five thyroid resection specimens were analyzed for HBF. The results were correlated with clinicomorphological features. All patients were women (33–82 years. The preoperative diagnosis was thyroid goiter or nodule. Treatment consisted in thyroidectomy and lobectomy (3 and 2, resp.. Microscopy showed sporadic nodular goiter. Malformative blood vessels and vascular calcifications were seen in intra- and extrathyroid location (5 and 3, resp.. The number and size of HBFs (total: 28 ranged between 1 and 23/thyroid gland (one bilateral and 1 and 10 mm, respectively. Twelve HBFs were in contact with the thyroid capsule. Most were extranodular (21, versus 6 intranodular. The medical history was positive for dyslipidemia, hyperglycemia, renal dysfunction, and hyperuricemia (2, 3, and 3 cases and 1 case, resp. without any parathyroid abnormality. In conclusion, thyroid HBF may be characterized by subcapsular or extranodular location, various size (usually ≥2 mm, and vascular calcifications and malformations. Features of metabolic syndrome and renal dysfunction may be present, but their exact role in the pathogenesis of HBFs remains to be elucidated.

    19. La solución constructiva de la bóveda encamonada del salón de plenos del palacio del Senado en Madrid (España

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      Bustamante, R.

      2012-12-01

      Full Text Available The constructive type of the timber vault that covers the Plenary Hall of the Palace of the Senate of Spain belonging to the first quarter of the 19th century is analyzed, being composed of the following elements: a rectangular soffit or timber slab with the voids filled up with plaster armed with fibers of esparto, which is hung by means of claspers from a few longitudinal straps of the wooden trusses of the original cover; a half vault formed by double table “camones” supported by a continuous wooden perimeter. By the inner face the soffit and the half vault are provided by plaster and separated by a semicircular perimetric molding in the North and South sides. The papers presents a historical investigation of the changes since the former Augustinian church to the Lounge of Spanish Parliament and Lounge of Plenary sessions, an analysis of the constructive type to which the vault belongs, a geometric characterization and a description of the principal elements.

      Se analiza el tipo constructivo de la bóveda encamonada que cubre el Salón de Plenos del Palacio del Senado de España del primer cuarto del siglo XIX, que está compuesta por los siguientes elementos: un plafón rectangular o forjado de tablas con entrevigado de yeso armado con fibras de esparto, que está colgado mediante abrazaderas de unas vigas longitudinales que se apoyan sobre los tirantes de las cerchas de madera de la cubierta original. Y por una semibóveda formada por camones de dobles tablas apoyados en un encadenado perimetral. Por el intradós el plafón y la semibóveda están guarnecidos con yeso y separados entre sí por una moldura perimetral semicircular en los lados Norte y Sur. En el trabajo se presenta una investigación histórica de los cambios registrados desde la antigua iglesia agustina, hasta el Salón de Cortes y Salón de Plenos, un análisis del tipo constructivo al que pertenece la bóveda, una caracterización geométrica y una descripci

    20. “Kevin Hakkında Konuşmalıyız” Filminin Bowlby’nin Çocukluk Dönemi Bağlanma Stilleri Ve Minuchin’in Yapısal Aile Sistemleri Yaklaşımı Temel Kavramları Kullanılarak Değerlendirilmesi

      OpenAIRE

      Mert, Abdullah; Soyer, Betül

      2014-01-01

      Bu çalışmanın amacı, “Kevin Hakkında Konuşmalıyız” filmini, Bowlby’nin çocukluk dönemi bağlanma stillerini ve Minuchin’in yapısal aile sistemleri yaklaşımı temel kavramlarını kullanarak değerlendirmek ve her iki yaklaşım arasında ilişkiyi, filmde ele alınan ergenin suç işleme davranışı ile göstermektir. Bu çalışma, film analizi yöntemi ile gerçekleştirilmiştir. Analiz için, bağlanma stillerine, yapısal aile yaklaşımı kavramlarına ve ergenin suç işleme davranışlarına örnek gösterecek 50 sahne ...

    1. Memory, Art and Mourning: the Case of the 'Salón del Nunca Más' of Granada (Antioquia, Colombia

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      Elkin Rubiano Pinilla

      2017-07-01

      Full Text Available This document examines the work produced in the 'Salón del Nunca Más', located in Granada (Antioquia on the subject of collective memory. In this rural town, the 'Salón' has articulated different practices that, along with the construction of memory, have allowed survivors of violence and family members of killed and disappeared individuals to symbolize loss by means of public rituals. On the other hand, the article explores the visual settings that lay down the event, not only the exposure of violent events but the practices of the local community: what happens in the 'Salón', the journalistic covering (written press, the documental photography (Jesús Abad Colorado and the artistic work (Erika Diettes. For this purpose, archival material, a historical interdisciplinary approach, psychoanalysis and image and communication theories, as well as interviews is referenced through this article.

    2. MTHFR polymorphisms as prognostic factors in sporadic colorectal cancer.

      Science.gov (United States)

      Osian, Gelu; Procopciuc, Lucia; Vlad, Liviu

      2007-09-01

      Theoretically, individuals having at least one mutant allele present a modified activity of the MTHFR enzyme and low methylation, DNA synthesis-repair respectively, which could imply a higher risk of colorectal cancer. The purpose of this study was to investigate the relations of these mutations with the clinico-pathological aspects of colorectal cancer. The study included 69 patients with sporadic colorectal cancer. The relative risk in homozygous patients with a normal allele and for mutations C667T and A1298C, in heterozygous patients with one normal and one mutant allele, and for homozygous patients for the mutant allele was calculated. C667T and A1298C mutations represent a risk factor for colorectal cancer with an OR (odds ratio) = 2.13 (CI (0.51-8.91)) and 3 (CI(0.3-29.58), respectively, in homozygous patients. These mutations are associated with a more frequent location of lesions at the colon level, OR=2.3 and 2.15 respectively. The incidence of the A1298C mutation was more frequent in stage N0 than N+ (p<0.05), pT2 vs. pT3 (p<0.05), as well as in Dukes stages B and D vs. A or C (p<0.05). The results obtained support the hypothesis of an increased colorectal cancer prevalence in patients with one of the MTHFR gene mutations. These patients develop colon cancer more frequently, they present lymph node invasion more rarely, and develop more often distant metastases.

    3. Upregulated Genes In Sporadic, Idiopathic Pulmonary Arterial Hypertension

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      Yacoub Magdi H

      2006-01-01

      Full Text Available Abstract Background To elucidate further the pathogenesis of sporadic, idiopathic pulmonary arterial hypertension (IPAH and identify potential therapeutic avenues, differential gene expression in IPAH was examined by suppression subtractive hybridisation (SSH. Methods Peripheral lung samples were obtained immediately after removal from patients undergoing lung transplant for IPAH without familial disease, and control tissues consisted of similarly sampled pieces of donor lungs not utilised during transplantation. Pools of lung mRNA from IPAH cases containing plexiform lesions and normal donor lungs were used to generate the tester and driver cDNA libraries, respectively. A subtracted IPAH cDNA library was made by SSH. Clones isolated from this subtracted library were examined for up regulated expression in IPAH using dot blot arrays of positive colony PCR products using both pooled cDNA libraries as probes. Clones verified as being upregulated were sequenced. For two genes the increase in expression was verified by northern blotting and data analysed using Student's unpaired two-tailed t-test. Results We present preliminary findings concerning candidate genes upregulated in IPAH. Twenty-seven upregulated genes were identified out of 192 clones examined. Upregulation in individual cases of IPAH was shown by northern blot for tissue inhibitor of metalloproteinase-3 and decorin (P Conclusion Four of the up regulated genes, magic roundabout, hevin, thrombomodulin and sucrose non-fermenting protein-related kinase-1 are expressed specifically by endothelial cells and one, muscleblind-1, by muscle cells, suggesting that they may be associated with plexiform lesions and hypertrophic arterial wall remodelling, respectively.

    4. Chlamydia pecorum: fetal and placental lesions in sporadic caprine abortion.

      Science.gov (United States)

      Giannitti, Federico; Anderson, Mark; Miller, Myrna; Rowe, Joan; Sverlow, Karen; Vasquez, Marce; Cantón, Germán

      2016-03-01

      Chlamydial abortion in small ruminants is usually associated with Chlamydia abortus infection. Although Chlamydia pecorum has been detected in aborted ruminants and epidemiological data suggests that C. pecorum is abortigenic in these species, published descriptions of lesions in fetuses are lacking. This work describes fetoplacental lesions in a caprine abortion with C. pecorum infection, and further supports the abortigenic role of C. pecorum in ruminants. A 16-month-old Boer goat aborted twin fetuses at ~130 days of gestation. Both fetuses (A and B) and the placenta of fetus A were submitted for postmortem examination and diagnostic workup. At autopsy, the fetuses had moderate anasarca, intermuscular edema in the hindquarters (A), and brachygnathia and palatoschisis (B). In the placenta, the cotyledons were covered by yellow fibrinosuppurative exudate that extended into the adjacent intercotyledonary areas. Histologically, there was severe suppurative and necrotizing placentitis with vasculitis (arteriolitis) and thrombosis, multifocal lymphohistiocytic and neutrophilic hepatitis (A), and fibrinosuppurative enteritis in both fetuses. Chlamydia antigen was detected in the placenta by the direct fluorescent antibody test and in fetal intestines by immunohistochemistry. Nested polymerase chain reaction of DNA extracted from formalin-fixed, paraffin-embedded sections of placenta and intestine amplified 400 bp of the Chlamydia 16S rRNA gene that was sequenced and found to be 99% identical to C. pecorum by BLAST analysis. Other known abortigenic infectious agents were ruled out by specific testing. It is concluded that C. pecorum infection is associated with fetoplacental lesions and sporadic abortion in goats. © 2015 The Author(s).

    5. Genotype and phenotype analysis of patients with sporadic periodic paralysis.

      Science.gov (United States)

      Sung, Chih-Chien; Cheng, Chih-Jen; Lo, Yi-Fen; Lin, Mei-Shan; Yang, Sung-Sen; Hsu, Yu-Chuan; Lin, Shih-Hua

      2012-04-01

      Sporadic periodic paralysis (SPP), the second leading cause of hypokalemic periodic paralysis (HPP) in Asia, has a presentation similar to that of familial periodic paralysis (FPP) and is caused by gene mutations in the calcium (Ca(2+)) (CACNA1S) and sodium (Na(+)) (SCN4A) channels of skeletal muscle. The authors determined whether SPP shares similar genotype and phenotype with FPP. Sixty SPP patients who did not have a family history of paralysis, abnormal thyroid function tests and other identifiable causes of HPP, and 8 FPP patients were enrolled. Genomic DNA was isolated from blood leukocytes of all SPP and FPP patients. Genetic analysis of whole S4 segment in CACNA1S and SCN4A was performed. Phenotypic analysis included clinical presentations, laboratory data and precipitating events. All FPP patients had mutations in either CACNA1S or SCN4A, but only 4 SPP patients had de novo mutations in CACNA1S (R1239H) and SCN4A (R669×2, R1135H). SPP patients with de novo mutations manifested a phenotype indistinguishable from that of FPP patients except a later age of onset. SPP patients without mutations also had a later age of onset, significantly fewer attacks of paralysis than FPP patients, and unidentifiable precipitating factors. A minority of SPP patients had de novo CACNA1S or SCN4A mutations and may have a variant of FPP. The majority of SPP patients, those without mutations in CACNA1S and SCN4A, represent a unique subgroup of HPP patients, and this form of SPP usually manifests at a later age, is associated with fewer attacks and lacks apparent triggering factors.

    6. Avaliação dos efeitos da adição de sal e da densidade no transporte de tambaqui

      Directory of Open Access Journals (Sweden)

      Gomes Levy de Carvalho

      2003-01-01

      Full Text Available Os objetivos deste trabalho foram testar a eficiência do sal como redutor de estresse e verificar a melhor densidade de transporte de juvenis de tambaqui (Colossoma macropomun em caixas de plástico adaptadas. No primeiro experimento foram testadas diferentes concentrações de sal de cozinha (NaCl na água; no segundo, o transporte foi realizado por três horas em caixas de plástico de 200 L estocadas com diferentes densidades de peixe, com 8 g de sal/L de água. O cortisol plasmático dos peixes sofreu aumento significativo após o transporte no tratamento sem sal e com 2 g de sal/L de água, retornando para níveis normais após 96 horas. A glicose plasmática dos peixes sofreu aumento após o transporte em todas as concentrações de sal testadas, com exceção da com 8 g/L de água, retornando para níveis normais em 24 horas. Nos peixes transportados no segundo experimento, com 8 g de sal/L de água, não foi verificada mudança significativa no cortisol plasmático, mas a glicose aumentou significativamente em todas as densidades após o transporte, retornando para níveis normais em 24 horas. Houve mortalidade de 11% em uma das repetições da densidade de 200 kg/m³ de água. Para o transporte com 8 g de sal/L de água, a densidade máxima deve ser de 150 kg/m³ de água. Nesta densidade os parâmetros físico-químicos de qualidade de água se mantêm com características adequadas, as respostas ao estresse são mínimas e não há mortalidade.

    7. Visual art therapy in sporadic Creutzfeldt-Jakob disease: a case study.

      Science.gov (United States)

      Shrestha, Rajeet; Trauger-Querry, Barbara; Loughrin, Athena; Appleby, Brian S

      2016-01-01

      This paper describes the diagnostic and treatment utility of visual art therapy in a case of sporadic Creutzfeldt-Jakob disease. Visual art therapy was compared longitudinally with clinical and neuroimaging data over five-month period in an autopsy-confirmed case of sporadic Creutzfeldt-Jakob disease of MM2-cortical subtype. Art therapy sessions and content were useful in ascertaining neuropsychiatric symptoms during the course of her illness. Art therapy offered a unique emotional and cognitive outlet as illness progressed. Patients and families affected by sporadic Creutzfeldt-Jakob disease may benefit from art therapy despite the rapidly progressive nature of the illness. Art therapy can also be useful for assessment of patients with sporadic Creutzfeldt-Jakob disease by healthcare professionals.

    8. Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

      DEFF Research Database (Denmark)

      Ferrari, Raffaele; Wang, Yunpeng; Vandrovcova, Jana

      2017-01-01

      BACKGROUND: Clinical, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's disease (AD) and Parkinson's disease (PD) has been suggested; however, the relationship between these disorders is still not well understood. Here we evaluated genetic overlap betwee...

    9. Serum uric acid and lipid profiles in sporadic Creutzfeldt-Jakob disease.

      Science.gov (United States)

      Chen, Shuai; He, Shuang; Shang, Jun-Kui; Ma, Ming-Ming; Xu, Chang-Shui; Shi, Xiao-Hong; Zhang, Jie-Wen

      2016-02-01

      Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and fatal neurodegenerative disease affecting the central nervous system. Brain lipid homeostasis and oxidative stress seem to play an important role in the disease pathogenesis. But little was known whether serum lipids and uric acid (a natural antioxidant) levels changed in patients with prion disease. Here we retrospectively reviewed and compared the serum lipids and uric acid levels of 19 probable sporadic CJD patients and 26 healthy control subjects. We found that the serum uric acid levels in sporadic CJD patients were significantly lower than that in controls (P=0.01). Serum triglycerides, cholesterol, low-density lipoprotein (LDL), high-density lipoprotein (HDL), and apolipoprotein A1 (ApoA1) were similar in sporadic CJD patients and controls. However, LDL/HDL ratio was lower in sporadic CJD patients (P=0.003). The low serum uric acid and LDL/HDL ratio levels in sporadic CJD indicate that dysfunction in the lipid homeostasis and oxidative stress is associated with sporadic prion disease. Copyright © 2015 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

    10. The Prion Protein Preference of Sporadic Creutzfeldt-Jakob Disease Subtypes*

      Science.gov (United States)

      Klemm, Helen M. J.; Welton, Jeremy M.; Masters, Colin L.; Klug, Genevieve M.; Boyd, Alison; Hill, Andrew F.; Collins, Steven J.; Lawson, Victoria A.

      2012-01-01

      Sporadic Creutzfeldt-Jakob disease (CJD) is the most prevalent manifestation of the transmissible spongiform encephalopathies or prion diseases affecting humans. The disease encompasses a spectrum of clinical phenotypes that have been correlated with molecular subtypes that are characterized by the molecular mass of the protease-resistant fragment of the disease-related conformation of the prion protein and a polymorphism at codon 129 of the gene encoding the prion protein. A cell-free assay of prion protein misfolding was used to investigate the ability of these sporadic CJD molecular subtypes to propagate using brain-derived sources of the cellular prion protein (PrPC). This study confirmed the presence of three distinct sporadic CJD molecular subtypes with PrPC substrate requirements that reflected their codon 129 associations in vivo. However, the ability of a sporadic CJD molecular subtype to use a specific PrPC substrate was not determined solely by codon 129 as the efficiency of prion propagation was also influenced by the composition of the brain tissue from which the PrPC substrate was sourced, thus indicating that nuances in PrPC or additional factors may determine sporadic CJD subtype. The results of this study will aid in the design of diagnostic assays that can detect prion disease across the diversity of sporadic CJD subtypes. PMID:22930754

    11. Sporadic-E and spread-F in high latitude region

      International Nuclear Information System (INIS)

      Tao, Kazuhiko

      1974-01-01

      The heretofore made morphological studies of sporadic-E and spread-F as the typical irregularities of electron density are reviewed. These phenomena have close correlation with other geophysical phenomena which occur in the atmosphere of superhigh altitude in high latitude region. Many of these phenomena occur from same causes. Although the quantitative data are insufficient, the sporadic-E and spread-F in high latitude region are supposed to be caused by the precipitating charged particles falling from magnetosphere. A system, which can observe such phenomena simultaneously using the measuring instruments carried by satellites in the atmosphere of high altitude over high latitude region, is desirable to solve such problems. In detail, the morphological study on sporadic-E obtained from the observation of vertically projected ionosphere and the morphological study on sporadic-E from the observation of forward scattering and slanting entrance are reviewed. The correlation of the occurrence frequency of sporadic-E with solar activity, geomagnetic activity and other phenomena was studied. The morphological study on spread-F occurrence is reviewed. The observation of the spread-F in high latitude region by the application of top side sounding is reviewed. The correlation of the sporadic-E and spread-F in high latitude region with other geophysical phenomena is discussed. Finally, the discrete phenomenon and the diffuse phenomenon are discussed too. (Iwakiri, K.)

    12. Ph Sal henoty lmonel ypic an lla sero p d mole otypes produc ecular ...

      African Journals Online (AJOL)

      SAM

      man and animals generally cause gastrointestinal infections usually less severe than enteric fever. However, they also have the ... (2011), epidemiologic classification of Salmonella is based on the host preferences. The first ..... serotypes to nalidixic and ofloxacin may account for the non- abuse of these antibiotics. Pui et al.

    13. 'Wat jy ook op die aarde mag bind, sal in die hemel gebonde wees ...

      African Journals Online (AJOL)

      Test

      19 Jul 2010 ... lig.' Sy 'juk' verskil van die sware laste wat die skrifgeleerdes op mense gelaai het deur hulle te hiet en te gebied, te bind en te verbied. Sy juk is lig en sag, want Hy maak mense los; Hy vergewe en verwelkom mense, al verdien hulle dit nie. Hy bevestig hierdie 'losmaak' as Hy in die volgende hoofstuk ...

    14. ALS Association

      Science.gov (United States)

      ... toward a world without ALS! Walk to Defeat ALS® Walk to Defeat ALS® draws people of all ... We need your help. I Will Advocate National ALS Registry The National ALS Registry is a congressionally ...

    15. Sporadic colorectal cancer: Studying ways to an end

      Science.gov (United States)

      Fidalgo, Paulo; Filipe, Bruno; Albuquerque, Cristina; Fonseca, Ricardo; Chaves, Paula; Pereira, António D

      2015-01-01

      Introduction Although colorectal cancer (CRC) has often been regarded as a single entity, different pathways may lead to macroscopically similar cancers. These pathways may evolve into a patchy colonic field defect that we aimed to study in consecutive CRC patients. Methods In a single-center, observational, prospective study, consecutive CRC patients were included if surgery and a perioperative colonoscopy were planned. Personal and familial history data were collected. Tumors were studied for microsatellite instability (MSI) status, DNA repair protein expression (DRPE) and presence of BRAF and/or APC mutations. Macroscopically normal mucosa samples were tested for APC mutations. Presence and location of synchronous and metachronous adenomas and patient follow-up were analyzed. The association of two categorical variables was tested through the Fisher’s exact test (SPSS 19). Results Twenty-four patients (12 male, mean age 69 years) were studied. High-grade MSI (MSI-H) was found in eight tumors—these were significantly more common in the right colon (p = 0.047) and more likely to have an altered DRPE (p = 0.007). BRAF mutation was found in two of six tested MSI-H tumors. APC gene mutations were found in nine of 16 non-MSI-H tumors and absent in normal mucosa samples. There was a nonsignificant co-localization of CRC and synchronous adenomas and a significant co-localization (p = 0.05) of synchronous and metachronous adenomas. Discussion Sporadic CRCs evolve through distinct pathways, evidenced only by pathological and molecular analysis, but clinically relevant both for patients and their families. In non-MSI-H tumors, the expected APC gene mutations were not detected by the most commonly used techniques in a high number of cases. More studies are needed to fully characterize these tumors and to search for common early events in normal mucosa patches, which might explain the indirect evidence found here for a field defect in the colon. PMID:27087959

    16. Estudo comparativo de desempenho: Salário Mínimo Nacional X Dólar e Euro

      Directory of Open Access Journals (Sweden)

      Daiane Almeida Aguiar

      2014-12-01

      Full Text Available A pesquisa descrita neste trabalho teve como objetivo analisar o desempenho do SM (Salário Mínimo Nacional nos períodos de 1994 a 2014 em comparação  com as moedas norte americana e europeia, o dólar e o euro, respctivamente, pois são moedas de referência mundial. A fundamentação teórica desse estudo foi baseada em pesquisas bibliográficas e artigos.  Este trabalho verificou que a inflação reduziu com a chegada do plano real, pois o país sofria com a hiperinflação. Observou-se que comparado com o dólar e o euro o SM foi valorizado.

    17. Progression des marais salés à l'ouest du Mont-Saint-Michel entre 1984 et 1994

      Directory of Open Access Journals (Sweden)

      Virginie BOUCHARD

      1995-12-01

      Full Text Available Les aménagements réalisés par l'homme en baie du Mont-Saint-Michel depuis des siècles ont accéléré le processus naturel de sédimentation au voisinage du Mont. Une carte du marais salé (ou herbu le plus menaçant pour l'insularité du Mont a été réalisée en 1984, juste avant la destruction de la digue de la Roche-Torin, opération qui devait limiter la progression de cet herbu. Une nouvelle analyse cartographique indique aujourd'hui que sa croissance vers le large se poursuit.

    18. Familial ALS

      Science.gov (United States)

      Boylan, Kevin

      2015-01-01

      Synopsis Genes linked to ALS susceptibility are being identified at an increasing rate owing to advances in molecular genetic technology. Genetic mechanisms in ALS pathogenesis appear to exert major effects in ~10% of patients, but genetic factors at some level may be important components of disease risk in most ALS patients. Identification of gene variants associated with ALS has informed concepts of the pathogenesis of ALS, aided the identification of therapeutic targets, facilitated research to develop new ALS biomarkers, and supported the establishment of clinical diagnostic tests for ALS-linked genes. Translation of this knowledge to ALS therapy development is ongoing. PMID:26515623

    19. Temperature and pressure effects on the spin state of ferric ions in the [Fe(sal2-trien)][Ni(dmit)2] spin crossover complex

      OpenAIRE

      2010-01-01

      Temperature and pressure effects on the spin state of ferric ions in the [Fe(sal2-trien)][Ni(dmit)2] spin crossover complex correspondance: Corresponding author. Tel.: +33561333190; fax: +33561553003. (Bousseksou, Azzedine) (Bousseksou, Azzedine) Laboratoire de Chimie de Coordination--> , CNRS UPR8241--> , Toulouse--> - FRANCE (Szilagyi, P.A. Petra A.) Eotvos Lorand University--> ...

    20. Sporadic diarrhoea due to Clostridium perfringens in children aged ...

      African Journals Online (AJOL)

      Fred

      2004-07-25

      Jul 25, 2004 ... out so far had not given an accurate assessment of the relative importance of C. perfringens in ... counting the colonies in each dilution series using the Miles and. Misra technique (Miles and Misra, 1938.). .... cases of C. perfringens type C in Thailand and Van Loon et al. (1990) reported it in Australia.

    1. Türkiye’de süs bitkileri sektörünün üretim ve yapısal sorunları ve öneriler

      OpenAIRE

      ONAY, Hatice Aslı

      2008-01-01

      ÖZET:

      Bu tez çalışması Türkiye’de süs bitkileri sektörünün üretim ve yapısal sorunlarını analiz ederek bunlara yapıcı ve sürdürülebilir çözümler üretmek amacıyla yapılmıştır. Bunun için öncelikle sektörün ülkemizdeki mevcut durumu ortaya konulmaya çalışılmıştır. Mevcut durumu ortaya koymak için ise sektörün üretim, ithalat ve ihracat verilerinden yararlanılmıştır. Birçok kurum ve kuruluşlardan edinilen bu veriler ışığında sekt...

    2. Hacia un nuevo modelo de epilepsia: el hámster GASH:sal

      OpenAIRE

      Carballosa González, Melissa

      2008-01-01

      La epilepsia es una e las enfermedades neurológicas más frecuentes en el hombre, desconociéndose actualmente los mecanismos celulares y moleculares que transforman una parte del cerebro normal en epiléptico.El estudio de la epilepsias ha sido dependiente del estudio de diversos modelos animales. De entre todos los modelos,los de carácter genético,constituyen un grupo muy útil, y entre ellos, los que presentan epilepsias reflejas más aún, ya que pueden desencadenarse las crisis a voluntad al ...

    3. Electronic structure and chemical bonding anisotropy investigation of wurtzite AlN

      Science.gov (United States)

      Magnuson, M.; Mattesini, M.; Höglund, C.; Birch, J.; Hultman, L.

      2009-10-01

      The electronic structure and the anisotropy of the AlN π and σ chemical bonding of wurtzite AlN has been investigated by bulk-sensitive total fluorescence yield absorption and soft x-ray emission spectroscopies. The measured NK , AlL1 , and AlL2,3 x-ray emission and N1s x-ray absorption spectra are compared with calculated spectra using first-principles density-functional theory including dipole transition matrix elements. The main N2p-Al3p-Al 3d and N2p-Al3s hyridization regions are identified at -1.0 to -1.8eV and -5.0 to -5.5eV below the top of the valence band, respectively. In addition, N2s-Al3p and N2s-Al3s hybridization regions are found at the bottom of the valence band around -13.5 and -15eV , respectively. A strongly modified spectral shape of Al3s states in the AlL2,3 emission from AlN in comparison to Al metal is found, which is also reflected in the N2p-Al3p hybridization observed in the AlL1 emission. The differences between the electronic structure and chemical bonding of AlN and Al metal are discussed in relation to the position of the hybridization regions and the valence-band edge influencing the magnitude of the large band gap.

    4. Hospital Admissions, Biological Therapy, and Surgery in Familial and Sporadic Cases of Inflammatory Bowel Disease

      DEFF Research Database (Denmark)

      Trier Moller, Frederik; Andersen, Vibeke; Andersson, Mikael

      2015-01-01

      BACKGROUND: Easily accessible predictors of disease course in inflammatory bowel disease (IBD) are scarce, and it remains largely unknown whether a family history of IBD predicts the course of Crohn's disease (CD) and ulcerative colitis (UC). We aimed to compare the course of disease in familial...... and sporadic cases of IBD. However, patients with familial CD had significantly higher risk of major surgery than sporadic CD cases after 2 years of disease duration (hazard ratio, 1.62; 95% confidence interval, 1.26-2.07). Also, sensitivity analysis suggested a slightly reduced time from diagnosis to first......-related hospitalization, biological treatment, and surgery in familial versus sporadic cases of IBD. RESULTS: A total of 27,886 IBD cases, including 1006 IBD-relative pairs, were followed-up for up to 16 years, totaling 164,979 person-years. We observed no difference in risk of hospital admissions between familial...

    5. The genetics of radiation-induced and sporadic osteosarcoma: a unifying theory?

      International Nuclear Information System (INIS)

      Rosemann, Michael; Kuosaite, Virginija; Nathrath, Michaela; Atkinson, Michael J.

      2002-01-01

      Cancer is a disease of the genome, with the neoplastic phenotype being passed from one cell generation to the other. Radiation-induced cancer has often been considered to represent a unique entity amongst neoplasia, with the energy deposition being held responsible for both direct (gene mutations) and indirect (bystander effects, induced instability etc) alterations to the cellular genome. However, radiogenic tumours in man and experimental animals appear to be physiologically and genetically indistinguishable from their sporadic counterparts, suggesting that the aetiologies of these two tumour types are in fact closely related. We have conducted a general screen of the genetic alterations in radiation-induced mouse osteosarcoma, a tumour that is histopathologically indistinguishable from human sporadic osteosarcoma. Comparison of the two tumour types indicates the existence of a common set of genetic changes, providing additional evidence to support the concept that the molecular pathology of radiation-induced malignancy is no different to that of sporadic cancers. (author)

    6. BRCA 1/2-Mutation Related and Sporadic Breast and Ovarian Cancers: More Alike than Different

      Science.gov (United States)

      Burgess, Melissa; Puhalla, Shannon

      2014-01-01

      No longer is histology solely predictive of cancer treatment and outcome. There is an increasing influence of tumor genomic characteristics on therapeutic options. Both breast and ovarian cancers are at higher risk of development in patients with BRCA 1/2-germline mutations. Recent data from The Cancer Genome Atlas and others have shown a number of genomic similarities between triple negative breast cancers (TNBCs) and ovarian cancers. Recently, poly (ADP-ribose) polymerase (PARP) inhibitors have shown promising activity in hereditary BRCA 1/2-mutated and sporadic breast and ovarian cancers. In this review, we will summarize the current literature regarding the genomic and phenotypic similarities between BRCA 1/2-mutation related cancers, sporadic TNBCs, and sporadic ovarian cancers. We will also review Phase I, II, and III data using PARP inhibitors for these malignancies and compare and contrast the results with respect to histology. PMID:24579064

    7. Microsatellite D21D210 (GT-12) allele frequencies in sporadic Alzheimer's disease

      International Nuclear Information System (INIS)

      Lannfelt, L.; Lilius, L.; Viitanen, M.; Winblad, B.; Basun, H.; Houlden, H.; Rossor, M.; Hardy, J.

      1995-01-01

      Four disease-causing mutations have so far been described in the amyloid precursor protein gene on chromosome 21 in familial early-onset Alzheimer's disease. Linkage analysis with a fourteen-allele microsatellite at D21S210 named GT-12 has proven useful in the elucidation of amyloid presursor protein gene involvement in Alzheimer's disease families, as it is closely linked to the gene. Most cases of Alzheimer's disease are thought to be sporadic and not familial. However, evidence from earlier studies suggests an important genetic contribution also in sporadic cases, where gene-environment interaction may contribute to the disease. We have determined frequencies of the GT-12 alleles in 78 Swedish and 49 British sporadic Alzheimer's disease cases and 104 healthy elderly control subjects, to investigate if the disease associates with a particular genotype in GT-12. However, no differences in allele frequencies were observed between any of the groups. (au) (26 refs.)

    8. Neuropathological and biochemical criteria to identify acquired Creutzfeldt-Jakob disease among presumed sporadic cases.

      Science.gov (United States)

      Kobayashi, Atsushi; Parchi, Piero; Yamada, Masahito; Mohri, Shirou; Kitamoto, Tetsuyuki

      2016-06-01

      As an experimental model of acquired Creutzfeldt-Jakob disease (CJD), we performed transmission studies of sporadic CJD using knock-in mice expressing human prion protein (PrP). In this model, the inoculation of the sporadic CJD strain V2 into animals homozygous for methionine at polymorphic codon 129 (129 M/M) of the PRNP gene produced quite distinctive neuropathological and biochemical features, that is, widespread kuru plaques and intermediate type abnormal PrP (PrP(Sc) ). Interestingly, this distinctive combination of molecular and pathological features has been, to date, observed in acquired CJD but not in sporadic CJD. Assuming that these distinctive phenotypic traits are specific for acquired CJD, we revisited the literature and found two cases showing widespread kuru plaques despite the 129 M/M genotype, in a neurosurgeon and in a patient with a medical history of neurosurgery without dura mater grafting. By Western blot analysis of brain homogenates, we revealed the intermediate type of PrP(Sc) in both cases. Furthermore, transmission properties of brain extracts from these two cases were indistinguishable from those of a subgroup of dura mater graft-associated iatrogenic CJD caused by infection with the sporadic CJD strain V2. These data strongly suggest that the two atypical CJD cases, previously thought to represent sporadic CJD, very likely acquired the disease through exposure to prion-contaminated brain tissues. Thus, we propose that the distinctive combination of 129 M/M genotype, kuru plaques, and intermediate type PrP(Sc) , represents a reliable criterion for the identification of acquired CJD cases among presumed sporadic cases. © 2015 Japanese Society of Neuropathology.

    9. Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonism.

      Science.gov (United States)

      Tomiyama, Hiroyuki; Li, Yuanzhe; Yoshino, Hiroyo; Mizuno, Yoshikuni; Kubo, Shin-Ichiro; Toda, Tatsushi; Hattori, Nobutaka

      2009-05-22

      DJ-1 mutations cause autosomal recessive parkinsonism (ARP). Although some reports of DJ-1 mutations have been published, there is lack of information on the prevalence of these mutations in large-scale studies of both familial and sporadic parkinsonism. In this genetic screening study, we analyzed the distribution and frequency of DJ-1 mutations by direct nucleotide sequencing of coding exons and exon-intron boundaries of DJ-1, in 386 parkin-negative parkinsonism patients (371 index cases: 67 probands of autosomal recessive parkinsonism families, 90 probands of autosomal dominant parkinsonism families, 201 patients with sporadic parkinsonism, and 13 with unknown family histories) from 12 countries (Japan 283, China 27, Taiwan 22, Korea 22, Israel 16, Turkey 5, Philippines 2, Bulgaria 2, Greece 2, Tunisia 1, USA 2, Ukraine 1, unknown 1). None had causative mutation in DJ-1, suggesting DJ-1 mutation is very rare among patients with familial and sporadic parkinsonism from Asian countries and those with other ethnic background. This is in contrast to the higher frequencies and worldwide distribution of parkin- and PINK1-related parkinsonism in ARP and sporadic parkinsonism. Thus, after obtaining clinical information, screening for mutations in (1) parkin, (2) PINK1, (3) DJ-1, (4) ATP13A2 should be conducted in that order, in ARP and sporadic parkinsonism, based on their reported frequencies. In addition, haplotype analysis should be employed to check for homozygosity of 1p36, which harbors a cluster of causative genes for ARP such as DJ-1, PINK1 and ATP13A2 in ARP and sporadic parkinsonism, especially in parkinsonism with consanguinity.

    10. Simultaneous observation of sporadic E with a rapid-run ionosonde and VHF coherent backscatter radar

      Directory of Open Access Journals (Sweden)

      T. Maruyama

      2006-03-01

      Full Text Available During the SEEK 2 rocket campaign, ionograms were recorded every minute at the Yamagawa Radio Observatory at about 90km west of the region monitored by a VHF (very high frequency coherent backscatter radar. Sporadic E-layer parameters, which include the critical (foEs and blanketing (fbEs frequencies, the layer height (h'Es, and the width of the range spread of sporadic E-traces, were compared with RTI (range-time-intensity plots of VHF quasi-periodic (QP and continuous coherent backscatter echoes. A close relationship was found between the appearance of QP echoes in the RTI plots and the level of spatial inhomogeneity in sporadic E plasma, signified here by the difference between foEs and fbEs. During QP echo events, foEs increased while fbEs decreased, so that the difference foEs-fbEs was enhanced, indicating the development of strong spatial structuring in electron density within a sporadic E-layer. On the other hand, increases in sporadic E range spreading also correlated with the occurrence of QP echoes but the degree of correlation varied from event to event. Continuous radar echoes were observed in association with low altitude sporadic E-layers, located well below 100 km and at times as low as 90 km. During the continuous echo events, both foEs and fbEs were less variable, and the difference foEs-fbEs was small and not as dynamic as in the QP echoes. On the other hand, the Es-layer spread intensified during continuous echoes, which means that some patchiness or corrugation in those low altitude layers is also necessary for the continuous backscatter echoes to take place.

    11. Simultaneous observation of sporadic E with a rapid-run ionosonde and VHF coherent backscatter radar

      Directory of Open Access Journals (Sweden)

      T. Maruyama

      2006-03-01

      Full Text Available During the SEEK 2 rocket campaign, ionograms were recorded every minute at the Yamagawa Radio Observatory at about 90km west of the region monitored by a VHF (very high frequency coherent backscatter radar. Sporadic E-layer parameters, which include the critical (foEs and blanketing (fbEs frequencies, the layer height (h'Es, and the width of the range spread of sporadic E-traces, were compared with RTI (range-time-intensity plots of VHF quasi-periodic (QP and continuous coherent backscatter echoes. A close relationship was found between the appearance of QP echoes in the RTI plots and the level of spatial inhomogeneity in sporadic E plasma, signified here by the difference between foEs and fbEs. During QP echo events, foEs increased while fbEs decreased, so that the difference foEs-fbEs was enhanced, indicating the development of strong spatial structuring in electron density within a sporadic E-layer. On the other hand, increases in sporadic E range spreading also correlated with the occurrence of QP echoes but the degree of correlation varied from event to event. Continuous radar echoes were observed in association with low altitude sporadic E-layers, located well below 100 km and at times as low as 90 km. During the continuous echo events, both foEs and fbEs were less variable, and the difference foEs-fbEs was small and not as dynamic as in the QP echoes. On the other hand, the Es-layer spread intensified during continuous echoes, which means that some patchiness or corrugation in those low altitude layers is also necessary for the continuous backscatter echoes to take place.

    12. Cortical restricted diffusion as the predominant MRI finding in sporadic Creutzfeldt-Jakob disease

      Energy Technology Data Exchange (ETDEWEB)

      Talbott, Sabrina D.; Sattenberg, Ronald J.; Heidenreich, Jens O. (Dept. of Radiology, Univ. of Louisville, Louisville (United States)), e-mail: sdtalb02@gwise.louisville.edu; Plato, Brian M (Dept. of Neurology, Univ. of Louisville, Louisville (United States)); Parker, John (Dept. of Pathology and Laboratory Medicine, Univ. of Louisville, Louisville (United States))

      2011-04-15

      Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder with MR findings predominantly limited to the grey matter of the cortex and the basal ganglia. Sporadic Creutzfeldt-Jakob disease can produce a spectrum of MR imaging findings of the brain, most notably on DWI and FLAIR sequences. Involvement of the basal ganglia and neocortex is the most common finding, but isolated involvement of the cortex can also be seen. We describe the clinical history and MRI findings of three patients with sporadic Creutzfeldt-Jakob disease confirmed by brain biopsy or autopsy and review the literature of imaging manifestations of this disease

    13. Cortical restricted diffusion as the predominant MRI finding in sporadic Creutzfeldt-Jakob disease

      International Nuclear Information System (INIS)

      Talbott, Sabrina D.; Sattenberg, Ronald J.; Heidenreich, Jens O.; Plato, Brian M; Parker, John

      2011-01-01

      Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder with MR findings predominantly limited to the grey matter of the cortex and the basal ganglia. Sporadic Creutzfeldt-Jakob disease can produce a spectrum of MR imaging findings of the brain, most notably on DWI and FLAIR sequences. Involvement of the basal ganglia and neocortex is the most common finding, but isolated involvement of the cortex can also be seen. We describe the clinical history and MRI findings of three patients with sporadic Creutzfeldt-Jakob disease confirmed by brain biopsy or autopsy and review the literature of imaging manifestations of this disease

    14. Sporadic Endolymphatic Sac Tumor-A Very Rare Cause of Hearing Loss, Tinnitus, and Dizziness

      DEFF Research Database (Denmark)

      Schnack, Didde Trærup; Kiss, Katalin; Hansen, Søren

      2017-01-01

      Sporadic endolymphatic sac tumor is a very rare neoplasm. It is low malignant, locally destructive and expansive, but non-metastasizing. The tumor is very rare in the sporadic form, but more often associated with Von Hippel-Lindau disease. A 65-year old man with left sided tinnitus and hearing loss......-operative freeze-microscopy showed inflammation tissue, whereas subsequent microscopy showed papillary-cystic endolymphatic sac tumor. Endolymphatic sac tumor is a rare neoplasm. The tumor may present with asymmetrically sensory neural hearing loss with or without tinnitus, dizziness and facial nerve paresis...

    15. Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease

      DEFF Research Database (Denmark)

      van Eimeren, Thilo; Binkofski, Ferdinand; Buhmann, Carsten

      2010-01-01

      Treatment-related motor complications such as dyskinesias are a major problem in the long-term management of Parkinson's disease (PD). In sporadic PD, a relatively early onset of the disease is known to be associated with an early development of dyskinesias. Although linked with early onset...... selected movements. Patients with Parkin-associated and sporadic PD showed no difference in movement-related activation patterns. Moreover, the covariates 'age' and 'disease duration' similarly influenced brain activation in both patient groups. The present finding suggests that a stable long-term motor...

    16. Reactive GTS Allocation Protocol for Sporadic Events Using the IEEE 802.15.4

      Directory of Open Access Journals (Sweden)

      Mukhtar Azeem

      2014-01-01

      by the IEEE 802.15.4 standard. The proposed control protocol ensures that a given offline sporadic schedule can be adapted online in a timely manner such that the static periodic schedule has not been disturbed and the IEEE 802.15.4 standard compliance remains intact. The proposed protocol is simulated in OPNET. The simulation results are analyzed and presented in this paper to prove the correctness of the proposed protocol regarding the efficient real-time sporadic event delivery along with the periodic event propagation.

    17. Deformation mechanisms of nanotwinned Al

      Energy Technology Data Exchange (ETDEWEB)

      Zhang, Xinghang [Texas A & M Univ., College Station, TX (United States)

      2016-11-10

      The objective of this project is to investigate the role of different types of layer interfaces on the formation of high density stacking fault (SF) in Al in Al/fcc multilayers, and understand the corresponding deformation mechanisms of the films. Stacking faults or twins can be intentionally introduced (via growth) into certain fcc metals with low stacking fault energy (such as Cu, Ag and 330 stainless steels) to achieve high strength, high ductility, superior thermal stability and good electrical conductivity. However it is still a major challenge to synthesize these types of defects into metals with high stacking fault energy, such as Al. Although deformation twins have been observed in some nanocrystalline Al powders by low temperature, high strain rate cryomilling or in Al at the edge of crack tip or indentation (with the assistance of high stress intensity factor), these deformation techniques typically introduce twins sporadically and the control of deformation twin density in Al is still not feasible. This project is designed to test the following hypotheses: (1) Certain type of layer interfaces may assist the formation of SF in Al, (2) Al with high density SF may have deformation mechanisms drastically different from those of coarse-grained Al and nanotwinned Cu. To test these hypotheses, we have performed the following tasks: (i) Investigate the influence of layer interfaces, stresses and deposition parameters on the formation and density of SF in Al. (ii) Understand the role of SF on the deformation behavior of Al. In situ nanoindentation experiments will be performed to probe deformation mechanisms in Al. The major findings related to the formation mechanism of twins and mechanical behavior of nanotwinned metals include the followings: 1) Our studies show that nanotwins can be introduced into metals with high stacking fault energy, in drastic contrast to the general anticipation. 2) We show two strategies that can effectively introduce growth twins in

    18. Aboveground tree biomass in a recovering tropical sal (Shorea robusta Gaertn. f.) forest of Eastern Ghats, India

      Energy Technology Data Exchange (ETDEWEB)

      Behera, Soumit K.; Misra, Malaya K. [Ecology and Floristic Laboratory, Department of Botany, Berhampur University, Berhampur 760 007, Orissa (India)

      2006-06-15

      Aboveground biomass of individual tree species by component and total biomass per unit area for four different stages of a recovering tropical dry deciduous forest stands, dominated by sal (Shorea robusta Gaertn. f.) of the Eastern Ghats, India were investigated during 2001-2002. Different periods of recovering (2, 4, 6, and 10-year) forest stands (84{sup o}13'E, 20{sup o}29'N) were selected in the Kandhamal district of Orissa, India and sample trees of all species were harvested. Tree species diversity was 23, 23, 21 and 22 in 2, 4, 6, and 10-year recovering stands, respectively. Species-wise Ixora pavetta showed the highest biomass in 2 and 4-year stands while Shorea robusta in 6 and 10-year stands. Component-wise, in all species, bole-wood contribution ranged between 22.6% and 60.9%. Aboveground tree biomass, in all the stands, was dominated by Shorea robusta, which ranged between 12.68 and 231.91Mgha{sup -1}. Total aboveground tree biomass was 30.12, 49.21, 107.54 and 261.08Mgha{sup -1} in 2, 4, 6 and 10-year stands, respectively. (author)

    19. Assessment of trace metal levels in catfish (Cathorops spixii) from Sal River estuary, Aracaju, state of Sergipe, northeastern Brazil.

      Science.gov (United States)

      Barbieri, Edison; Passos, Elisangela de Andrade; Aragão, Kennedy Alexandre Sousa; Santos, Danielle Barros; Garcia, Carlos Alexandre Borges

      2010-12-01

      The concentrations of cadmium, copper, nickel, zinc, and lead were determined in the catfish (Cathorops spixii) from the Sal River estuary, Brazil, to evaluate the potential role of domestic and industrial effluents released without treatment on the quality of the estuarine environment with consequences to fish resources. Muscle, liver, and kidney samples were analyzed for trace metal composition by flame atomic absorption spectrophotometry. The mean concentration (microg/g wet weight) of trace metals in the tissues of C. spixii were as follows: cadmium = 1.65, 2.81, and 0.71 microg/g; copper = 29.07, 4.38, and 3.40 microg/g; zinc = 229, 312, and 15.57 microg/g; nickel = 1.22, 1.04, and 117 microg/g; and lead = 7.09, 10.77, and 11.18 microg/g. The results show that metal accumulation in organs indicates the difference between them. The results showed high concentrations of copper, zinc, nickel, lead, and cadmium in the Cathorops spixii compared with the maximum values registered from fish in studies reported in other coastal regions of Brazil.

    20. Las expediciones a salinas: caravanas en la pampa colonial. El abastecimiento de sal a Buenos Aires (Siglos XVII y XVIII

      Directory of Open Access Journals (Sweden)

      Gabriel Darío Taruselli

      2005-01-01

      Full Text Available El abastecimiento de sal en cantidades sufi cientes fue una de las principales preocupaciones del Cabildo de Buenos Aires. Fue este un producto de importancia vital no sólo por su aplicación en las comidas cotidianas, sino también por su aplicación en la conservación de las carnes y los cueros. Las características de su uso y su obtención, aumentaron su valor, no sólo comercial sino también estratégico. El hallazgo de yacimientos locales permitió a los habitantes de Buenos Aires abastecerse mediante la práctica de expediciones periódicas que fueron promovidas por las autoridades capitulares, lo que les permitió ejercer un mayor control sobre dicha producción. Como la actividad requería una importante capacidad de transporte y de mano de obra, era una práctica aprovechada por muchos para emplearse en ella y para obtener benefi cios con el comercio que se generaba en la oportunidad. Esto convertía a las expediciones a salinas, organizadas por las autoridades de la ciudad, en grandes caravanas que se internaban en pleno territorio indí-gena, involucrando un amplio conjunto de actores sociales tanto de la ciudad como de la campaña y el mundo indígena

    1. Efeito do enriquecimento de biscoitos tipo água e sal, com extrato de levedura (Saccharomyces sp.

      Directory of Open Access Journals (Sweden)

      Santucci Marjorie Carelli Costa

      2003-01-01

      Full Text Available Os objetivos desta pesquisa foram a caracterização química de um autolisado (AT de levedura (Saccharomyces sp. , subproduto da fermentação alcoólica e de seus derivados, fração solúvel (Ex e insolúvel (FI. O autolisado integral (AT e o extrato (Ex, depois de desidratados por atomização (spray dryer foram utilizados como enriquecedores do gosto e do aroma de biscoitos salgados do tipo água e sal. A adição ao biscoito de 5% de Ex elevou o escore de aminoácidos essenciais (EAE de 38% para 60% e o índice de utilização líquida da proteína (NPR de 1,0 para 2,0 (100%. Houve ainda uma melhora significativa na aceitabilidade e na preferência dos biscoitos enriquecidos, pelos consumidores.

    2. Avances en la reducción del consumo de sal y sodio en Costa Rica Advances in reducing salt and sodium intake in Costa Rica

      Directory of Open Access Journals (Sweden)

      Adriana Blanco-Metzler

      2012-10-01

      Full Text Available En el presente artículo se describen los avances logrados en Costa Rica -así como los desafíos y limitaciones- en la reducción del consumo de sal. El establecimiento del Plan Nacional para la Reducción del Consumo de Sal/sodio en la Población de Costa Rica 2011 - 2021 se complementó con programas y proyectos multisectoriales específicos dirigidos a: 1 conocer la ingesta de sodio y el contenido de sal o sodio en los alimentos de mayor consumo; identificar los conocimientos, actitudes y comportamientos del consumidor respecto a la sal/sodio, su relación con la salud y el etiquetado nutricio-nal; evaluar la relación costo-efectividad de las medidas dirigidas a reducir la prevalencia de hipertensión arterial; 2 implementar estrategias para disminuir el contenido de sal/sodio en los alimentos procesados y los preparados en casa; 3 promover cambios de conducta en la población para reducir el consumo de sal en la alimentación; y 4 monitorear y evaluar las acciones dirigidas a reducir el consumo de sal o sodio en la población. Para alcanzar las metas propuestas se debe lograr una exitosa coordinación interinstitucional con los actores estratégicos, negociar compromisos con la industria alimentaria y los servicios de alimentación, y mejorar la regulación de los nutrientes críticos asociados con las enfermedades crónicas no transmisibles, en los alimentos. Se espera que a partir de los avances logrados durante la ejecución del Plan Nacional, Costa Rica logre alcanzar la meta internacional de reducción del consumo de sal.This article describes the progress-as well as the challenges and limitations-in reducing salt intake in Costa Rica. The National Plan to Reduce Public Consumption of Salt/Sodium in Costa Rica 2011 - 2021 was complemented with multisectoral programs and projects specifically designed to: 1 determine sodium intake and the salt/sodium content of the most widely consumed foods; identify the consumer knowledge, attitudes

    3. Aboveground Biomass and Carbon Stocks of an Undisturbed Regenerating Sal (Shorea Robusta Gaertn. F. Forest Of Goalpara District, Assam, Northeast India

      Directory of Open Access Journals (Sweden)

      Debajit Rabha

      2014-12-01

      Full Text Available The present paper deals with the above ground biomass and carbon stocks of an undisturbed Sal forest of Goalpara district, Assam, Northeast India. The average AGB and C were recorded 239.45 ± 12.8 Mg ha-1 and 119.73 ± 6.4 Mg ha-1. Density distribution curve indicates the high carbon sequestration potential of the stand in near future which further helps in climate change mitigation. Currently, conservation measures are well imposed in combine effort of local community and government. Legal involvement of local community in conservation exercises along with the forest department might be very effective in management of Sal forests.DOI: http://dx.doi.org/10.3126/ije.v3i4.11743   International Journal of EnvironmentVolume-3, Issue-4, Sep-Nov 2014Page: 147-155 

    4. Solving the AI Planning Plus Scheduling Problem Using Model Checking via Automatic Translation from the Abstract Plan Preparation Language (APPL) to the Symbolic Analysis Laboratory (SAL)

      Science.gov (United States)

      Butler, Ricky W.; Munoz, Cesar A.; Siminiceanu, Radu I.

      2007-01-01

      This paper describes a translator from a new planning language named the Abstract Plan Preparation Language (APPL) to the Symbolic Analysis Laboratory (SAL) model checker. This translator has been developed in support of the Spacecraft Autonomy for Vehicles and Habitats (SAVH) project sponsored by the Exploration Technology Development Program, which is seeking to mature autonomy technology for the vehicles and operations centers of Project Constellation.

    5. Concentraciones de yodo en orina y en sal de consumo en mujeres entre 12 a 49 años del Perú

      Directory of Open Access Journals (Sweden)

      Carolina Tarqui-Mamani

      Full Text Available Objetivos. Determinar las concentraciones de yodo en orina y sal de consumo en mujeres entre 12 a 49 años en Perú. Materiales y métodos. Se realizó un estudio observacional y transversal. Durante el 2012 y 2013, se incluyó mujeres entre 12 a 49 años residentes en los hogares peruanos seleccionadas mediante un muestreo probabilístico, estratificado y multietápico. La determinación de yodo en orina se realizó por espectrofotometría basada en la reacción de Sandell-Kolthoff. La evaluación cualitativa de yodo en sal se realizó por yoditest y la cuantitativa por volumetría. El procesamiento se realizó mediante muestras complejas con ponderaciones. Se obtuvo medianas, rango intercuartílico y percentiles. Resultados. La mediana de yoduria en las participantes fue 250,4 ug/L; los departamentos con medianas de yoduria elevadas fueron: Moquegua (389,3 ug/L; Tacna (320,5 ug/L; Madre de Dios (319,8 ug/L, y Ucayali (306,0 ug/L; mientras que Puno (192,9 ug/L; Piura (188,1 ug/L y Tumbes (180,5 ug/L tuvieron medianas dentro de lo recomendado por la OMS. La mediana de yoduria en gestantes fue 274,6 ug/L (RIQ: 283 ug/L. El 82,5% de las muestras de sal tuvieron yodo ≥30 ppm y 1,9% tuvo valores de 0 ppm. Conclusiones. La mediana de yoduria en las mujeres peruanas está por encima de lo recomendado por la OMS y la mayoría de las muestras de sal tuvieron concentraciones adecuadas de yodo según la OMS

    6. Higher cytoplasmic and nuclear poly(ADP-ribose) polymerase expression in familial than in sporadic breast cancer

      NARCIS (Netherlands)

      Klauke, M.L.; Hoogerbrugge-van der Linden, N.; Budczies, J.; Bult, P.; Prinzler, J.; Radke, C.; van Krieken, J.H.; Dietel, M.; Denkert, C.; Muller, B.M.

      2012-01-01

      Poly(ADP-ribose) polymerase 1 (PARP) is a key element of the single-base excision pathway for repair of DNA single-strand breaks. To compare the cytoplasmic and nuclear poly(ADP-ribose) expression between familial (BRCA1, BRCA2, or non BRCA1/2) and sporadic breast cancer, we investigated 39 sporadic

    7. A randomized trial comparing levothyroxine with radioactive iodine in the treatment of sporadic nontoxic goiter

      NARCIS (Netherlands)

      Wesche, M. F.; Tiel-V Buul, M. M.; Lips, P.; Smits, N. J.; Wiersinga, W. M.

      2001-01-01

      A randomized clinical trial was performed in consecutive patients with sporadic nontoxic nodular goiter to compare efficacy and side effects of iodine-131 ((131)I) therapy with suppressive levothyroxine (L-thyroxine) treatment. Sixty-four patients were randomized after stratification for sex and

    8. CSF Neurofilament Proteins Levels are Elevated in Sporadic Creutzfeldt-Jakob Disease

      NARCIS (Netherlands)

      van Eijk, Jeroen J. J.; van Everbroeck, Bart; Abdo, W. Farid; Kremer, Berry P. H.; Verbeek, Marcel M.

      2010-01-01

      In this study we investigated the cerebrospinal fluid (CSF) levels of neurofilament light (NFL) and heavy chain (NFHp35), total tau (t-tau), and glial fibrillary acidic protein (GFAP) to detect disease specific profiles in sporadic Creutzfeldt Jakob disease (sCJD) patients and Alzheimer's disease

    9. Health professions and risk of sporadic Creutzfeldt- Jakob disease, 1965 to 2010

      NARCIS (Netherlands)

      E. Alcalde-Cabero; J. Almazán-Isla; J-P. Brandel (Jean-Philippe); M. Breithaupt; J. Catarino; S.J. Collins (Steven); J. Haybäck; R. Höftberger (Romana); E. Kahana; G.G. Kovacs (Gabor); A. Ladogana (Anna); E. Mitrová (Eva); A. Molesworth; Y. Nakamura; M. Pocchiari (Maurizio); M. Popovic; M. Ruiz-Tovar; A. Taratuto; C. van Duin; M. Yamada; R.G. Will (Robert); I. Zerr (Inga); J. de Pedro-Cuesta (Jesús)

      2012-01-01

      textabstractIn 2009, a pathologist with sporadic Creutzfeldt- Jakob Disease (sCJD) was reported to the Spanish registry. This case prompted a request for information on health-related occupation in sCJD cases from countries participating in the European Creutzfeldt Jakob Disease Surveillance network

    10. Detection of infectivity in blood of persons with variant and sporadic Creutzfeldt-Jakob disease.

      Science.gov (United States)

      Douet, Jean Yves; Zafar, Saima; Perret-Liaudet, Armand; Lacroux, Caroline; Lugan, Séverine; Aron, Naima; Cassard, Herve; Ponto, Claudia; Corbière, Fabien; Torres, Juan Maria; Zerr, Inga; Andreoletti, Olivier

      2014-01-01

      We report the presence of infectivity in erythrocytes, leukocytes, and plasma of 1 person with variant Creutzfeldt-Jakob disease and in the plasma of 2 in 4 persons whose tests were positive for sporadic Creutzfeldt-Jakob disease. The measured infectivity levels were comparable to those reported in various animals with transmissible spongiform encephalopathies.

    11. CT and MRI in iatrogenic and sporadic Creutzfeldt-Jakob disease: as far as imaging perseives

      Energy Technology Data Exchange (ETDEWEB)

      Garcia Santos, J.M. [Servicio de Radiodiagnostico, HU Dr. Morales Meseguer, Murcia (Spain)]|[Section of Neuroradiology, HU Virgen de la Arrixaca, Murcia (Spain); Lopez Corbalan, J.A. [Section of Neuroradiology, HU Virgen de la Arrixaca, Murcia (Spain); Martinez-Lage, J.F. [Service of Neurosurgery, HU Virgen de la Arrixaca, Murcia (Spain); Sicilis Guillen, J. [Service of Neurology, HU Virgen de la Arrixaca, Murcia (Spain)

      1996-04-01

      Creutzfeldt-Jakob Disease (CJD), an invariably fatal dementing illness, affects patients in middle and old age (sporadic form). However, the association of CJD with certain treatments (iatrogenic form) has been described in younger patients. The clinical onset of the two forms seems to differ; in the iatrogenic form a high frequency of the ataxic CJD variant has been reported. Nowadays, a definitive diagnosis of CJD is exclusively histological. We present five cases of CJD, one sporadic and the others iatrogenic, following dura mater grafts and analyse their CT and MRI features. CT typically demonstrates brain atrophy, generally progressive, but in sporadic CJD midfield MRI also showed abnormal signal, with predominant deep grey matter involvement. The use of narrow windows with proton-density sequences may reveal subtle cortical signal abnormalities not clearly visible with conventional windows. The early demonstration of these changes, in the appropriate clinical context, may suggest CJD and this supports the use of mid- or high magnetic fields in the diagnosis of CJD and other forms of dementia. In our cases of iatrogenic CJD, low-field MRI did not reveal more than the progressive atrophy displayed by CT, and raises the question on the one hand of possible differences, based on imaging, from the sporadic form, and on the other of the lack of sensitivity of low-field magnets to signal changes in CJD. (orig.)

    12. CT and MRI in iatrogenic and sporadic Creutzfeldt-Jakob disease: as far as imaging perseives

      International Nuclear Information System (INIS)

      Garcia Santos, J.M.; Lopez Corbalan, J.A.; Martinez-Lage, J.F.; Sicilis Guillen, J.

      1996-01-01

      Creutzfeldt-Jakob Disease (CJD), an invariably fatal dementing illness, affects patients in middle and old age (sporadic form). However, the association of CJD with certain treatments (iatrogenic form) has been described in younger patients. The clinical onset of the two forms seems to differ; in the iatrogenic form a high frequency of the ataxic CJD variant has been reported. Nowadays, a definitive diagnosis of CJD is exclusively histological. We present five cases of CJD, one sporadic and the others iatrogenic, following dura mater grafts and analyse their CT and MRI features. CT typically demonstrates brain atrophy, generally progressive, but in sporadic CJD midfield MRI also showed abnormal signal, with predominant deep grey matter involvement. The use of narrow windows with proton-density sequences may reveal subtle cortical signal abnormalities not clearly visible with conventional windows. The early demonstration of these changes, in the appropriate clinical context, may suggest CJD and this supports the use of mid- or high magnetic fields in the diagnosis of CJD and other forms of dementia. In our cases of iatrogenic CJD, low-field MRI did not reveal more than the progressive atrophy displayed by CT, and raises the question on the one hand of possible differences, based on imaging, from the sporadic form, and on the other of the lack of sensitivity of low-field magnets to signal changes in CJD. (orig.)

    13. Diet-gene interactions in sporadic and hereditary colorectal carcinogenesis : epidemiological perspectives

      NARCIS (Netherlands)

      Voskuil, D.

      1999-01-01

      Colorectal cancer is known to develop by accumulation of alterations in regulatory genes. Both familial and environmental factors play a role in the etiology of colorectal cancer and its adenomatous precursor lesions. This thesis examines diet-gene interactions in sporadic and hereditary

    14. Ophthalmoscopy for congenital hypertrophy of the retinal pigment epithelium (CHRPE) in patients with sporadic colorectal carcinoma

      DEFF Research Database (Denmark)

      Hartvigsen, A; Myrhøj, T; Bülow, Steffen

      1995-01-01

      In order to investigate the frequency of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in sporadic colorectal cancer, ophthalmoscopy was carried out in 34 patients with colorectal carcinoma without known familial disposition. CHRPE is one of the most frequent extracolonic...

    15. Mechanism for the formation of sporadic-E layers in the high-latitude ionosphere

      Energy Technology Data Exchange (ETDEWEB)

      Vlasov, M.N.; Mishin, E.V.; Telegin, V.A.

      1980-09-01

      A model of the collective interaction of precipitating electrons and the ionospheric plasma is used to explain the formation of short-duration sporadic-E layers in the high-latitude ionosphere. The changes produced in electron density by this collective interaction mechanism are considered.

    16. Interrelationships between age, thyroid volume, thyroid nodularity, and thyroid function in patients with sporadic nontoxic goiter

      NARCIS (Netherlands)

      Berghout, A.; Wiersinga, W. M.; Smits, N. J.; Touber, J. L.

      1990-01-01

      To test the hypothesis that during the natural history of sporadic nontoxic goiter (SNG), a diffuse goiter precedes a multinodular goiter with gradual development of autonomous thyroid function. A cross-sectional survey of 102 consecutive patients with SNG (seven male, 95 female) was performed.

    17. Sporadic minute medullary thyroid carcinoma with a double RET mutation: A case report.

      Science.gov (United States)

      Yamamoto, Hiroyuki; Ishii, Jun; Chiba, Tomohiro; Nakazato, Yoko; Hirano, Kouichi; Kamma, Hiroshi

      2017-11-01

      We describe a 74-year-old man with a nodular goiter accompanied by an incidental sporadic minute medullary thyroid carcinoma (MTC). Histopathologically, the MTC was a well-defined 1.7 mm tumor in the upper one-third right lobe, with solid cell nests (SCNs) adjacent to the MTC. C-cells were scattered mainly around the SCNs, but C-cell hyperplasia was not evident in the background thyroid. The MTC cell phenotype was immunohistochemically identical to background C-cells, but was completely different from the SCN main cells. Direct DNA analyses of isolated MTC paraffin-embedded specimens revealed two RET proto-oncogene missense point mutations in exon 11 (i.e., C630R and C634W). The non-tumor thyroid tissue did not reveal any mutations. This study reports the smallest case of sporadic MTC with a double RET somatic mutation, substantiating that RET mutations can occur during a very early stage of carcinogenesis. The combined presence of C630R and C634W represent a novel somatic mutation in sporadic MTC. The present case indicates that the sporadic MTC originated from the surrounding C-cells of the SCNs without C-cell hyperplasia and that the SCN main cells may not be able to develop into an MTC. © 2017 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.

    18. Medical and environmental risk factors for sporadic frontotemporal dementia: a retrospective case-control study

      NARCIS (Netherlands)

      S.M. Rosso (Sonia); E.J. Landweer; M. Houterman; C.M. van Duijn (Cornelia); J.C. van Swieten (John); L. Donker Kaat (Laura)

      2003-01-01

      textabstractA retrospective case-control study was carried out on 80 patients with sporadic frontotemporal dementia and 124 age, sex, and surrogate informant matched controls with respect to various medical and environmental risk factors. Head trauma was associated with an odds ratio of 3.3 (95%

    19. Glycoform-selective prion formation in sporadic and familial forms of prion disease

      NARCIS (Netherlands)

      Xiao, X.; Yuan, J.; Haïk, S.; Cali, I.; Zhan, Y.; Moudjou, M.; Li, B.; Laplanche, J.L.; Laude, H.; Langeveld, J.P.M.; Gambetti, P.

      2013-01-01

      The four glycoforms of the cellular prion protein (PrP(C)) variably glycosylated at the two N-linked glycosylation sites are converted into their pathological forms (PrP(Sc)) in most cases of sporadic prion diseases. However, a prominent molecular characteristic of PrP(Sc) in the recently identified

    20. The clinical phenotype of hereditary versus sporadic prostate cancer: HPC definition revisited

      NARCIS (Netherlands)

      Cremers, R.G.H.M.; Aben, K.K.H.; Oort, I.M. van; Sedelaar, J.P.M.; Vasen, H.F.A.; Vermeulen, S.H.; Kiemeney, L.A.L.M.

      2016-01-01

      BACKGROUND: The definition of hereditary prostate cancer (HPC) is based on family history and age at onset. Intuitively, HPC is a serious subtype of prostate cancer but there are only limited data on the clinical phenotype of HPC. Here, we aimed to compare the prognosis of HPC to the sporadic form

    1. ATM down-regulation is associated with poor prognosis in sporadic breast carcinomas

      DEFF Research Database (Denmark)

      Bueno, R C; Canevari, R A; Villacis, R A R

      2014-01-01

      BACKGROUND: Ataxia telangiectasia-mutated (ATM) gene downexpression has been reported in sporadic breast carcinomas (BC); however, the prognostic value and mechanisms of ATM deregulation remain unclear. PATIENTS AND METHODS: ATM and miRNAs (miR-26a, miR-26b, miR-203, miR-421, miR-664, miR-576-5p...

    2. Sporadic nocturnal frontal lobe epilepsy: A consecutive series of 8 cases

      Directory of Open Access Journals (Sweden)

      Shih-Bin Yeh

      2014-09-01

      Discussion: These cases confirm that sporadic NFLE closely resembles familial NFLE, and comprises a set of distinct clinical manifestations, with variable intensity, and variable scalp EEG epileptiform abnormalities across sleep and wakefulness, which have previously been identified in Caucasian patients from Europe and North America.

    3. S182 and STM2 gene missense mutations in sporadic alzheimer disease

      Energy Technology Data Exchange (ETDEWEB)

      Higuchi, Susumu; Matsushita, Sachio; Hasegawa, Yoshio; Muramatsu, Taro [Kurihama National Hospital, Yokosuka (Japan)] [and others

      1996-07-26

      The linkage of genes S182 and STM2 to early-onset or late-onset sporadic Alzheimer disease (AD) was not found in a group of 97 clinically-diagnosed AD patients and 46 autopsy-confirmed AD cases, using PCR-RFLP methods. 7 refs.

    4. Variation of sporadic meteor activity during the 23. cycle of solar activity

      International Nuclear Information System (INIS)

      Porubcan, V.; Zigo, P.; Cevolani, G.; Rozboril, J.; Pupillo, G.

      2009-01-01

      Analyses of the influence of solar activity on sporadic meteor counts based on visual and radar meteor observations present rather contradictory results, indicating a possible variation of the sporadic meteor counts with a solar activity, with the maximum in observed meteor rates occurring from zero up to about five years after the solar activity maximum. With this perspective, in the present paper observations of the sporadic meteor background, obtained by a forward-scatter radio system for meteor observation operating along the Bologna (Italy)-Modra (Slovakia) baseline in 1996-2007, are analysed and discussed. The activity curves of all echoes and their variations indicate a correlation with solar activity in the 23. solar cycle represented by the solar relative number R (corr. coef. 0.71), as well as with the solar coronal index C1 (corr. coef. 0.73). The mass distribution exponent s and its variations (with corr. coef. against R and C1, 0.12 and 0.25, respectively) does not show a correlation consistent with solar activity and, from the viewpoint of s, suggest the existence of a relatively stable population of sporadic background meteoroids in the surroundings of the Earth's orbit during the investigated period.

    5. Clinical characteristics of familial and sporadic age-related macular degeneration: differences and similarities

      NARCIS (Netherlands)

      Saksens, N.T.M.; Kersten, E.; Groenewoud, J.M.M.; Grinsven, M.J.J.P. van; Ven, J.P.H. van de; Sanchez, C.I.; Schick, T.; Fauser, S.; Hollander, A.I. den; Hoyng, C.B.; Boon, C.J.F.

      2014-01-01

      PURPOSE: We describe the differences and similarities in clinical characteristics and phenotype of familial and sporadic patients with age-related macular degeneration (AMD). METHODS: We evaluated data of 1828 AMD patients and 1715 controls enrolled in the European Genetic Database. All subjects

    6. KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?

      NARCIS (Netherlands)

      Wijnen, Mark; Alders, Mariëlle; Zwaan, Christian M.; Wagner, Anja; van den Heuvel-Eibrink, Marry M.

      2012-01-01

      Pediatric adrenal tumors, other than neuroblastoma, are rare and can be associated with a genetic predisposition. In this report we describe two patients with an isolated and apparently sporadic adrenocortical tumor; one girl with a carcinoma, the other girl with an adenoma. In both patients genetic

    7. An effective parameter optimization technique for vibration flow field characterization of PP melts via LS-SVM combined with SALS in an electromagnetism dynamic extruder

      Science.gov (United States)

      Xian, Guangming

      2018-03-01

      A method for predicting the optimal vibration field parameters by least square support vector machine (LS-SVM) is presented in this paper. One convenient and commonly used technique for characterizing the the vibration flow field of polymer melts films is small angle light scattering (SALS) in a visualized slit die of the electromagnetism dynamic extruder. The optimal value of vibration vibration frequency, vibration amplitude, and the maximum light intensity projection area can be obtained by using LS-SVM for prediction. For illustrating this method and show its validity, the flowing material is used with polypropylene (PP) and fifteen samples are tested at the rotation speed of screw at 36rpm. This paper first describes the apparatus of SALS to perform the experiments, then gives the theoretical basis of this new method, and detail the experimental results for parameter prediction of vibration flow field. It is demonstrated that it is possible to use the method of SALS and obtain detailed information on optimal parameter of vibration flow field of PP melts by LS-SVM.

    8. Arquitectura y espacio urbano. SAL 2013 Bogotá: 28 años y 15 convocatorias de Seminarios de Arquitectura Latinoamericana

      Directory of Open Access Journals (Sweden)

      Ana Esteban Maluenda

      2014-02-01

      Full Text Available Durante el mes de septiembre de 2013 se ha celebrado en Bogotá el XV Seminario de Arquitectura Latinoamericana (SAL bajo el tema “Arquitectura y espacio urbano: memorias del futuro”. Los SAL surgieron de forma espontánea hace casi treinta años (1985 ante la necesidad que sintieron los arquitectos latinoamericanos por organizarse como un movimiento de profesionales interesados en el entendimiento de un horizonte cultural común a todos ellos e independiente, aunque no ajeno, a la producción arquitectónica internacional. Desde entonces hasta ahora, y de forma ininterrumpida, han ido revisando muy distintos temas de interés, desde la búsqueda de una identidad propiamente latinoamericana, que marcó los primeros encuentros, hasta la visión de futuro que está caracterizando los más recientes. Este texto es una crónica del útimo SAL, a la que antecede una revisión de la historia de dichos encuentros, cuya trayectoria, exitosa en participantes, prolija en discusiones y prolongada en el tiempo, los ha convertido en una de las referencias fundamentales para los estudiosos e interesados en el devenir de la arquitectura contemporánea latinoamericana.

    9. Determinantes da satisfação e atributos da qualidade em serviços de salão de beleza

      Directory of Open Access Journals (Sweden)

      José Luis Duarte Ribeiro

      2013-09-01

      Full Text Available Este artigo apresenta um modelo de representação dos determinantes da satisfação dos clientes de serviços em salões de beleza e dos atributos de qualidade percebidos por eles. Para isso, foram aplicadas duas pesquisas junto a usuários de salões de beleza com a finalidade de: (i determinar as relações entre os determinantes da satisfação dos clientes; e (ii identificar e hierarquizar atributos de qualidade percebidos, de acordo com sua importância para os clientes do serviço em questão. A confirmação de expectativas e a qualidade percebida aparecem como os principais determinantes da satisfação dos clientes. Competência técnica, limpeza do ambiente e dos utensílios, cumprimento de horários e localização conveniente aparecem como os principais atributos de qualidade percebidos. Os resultados desta pesquisa podem ser usados pelos gerentes de salões de beleza para aprimorar a qualidade do serviço e a satisfação dos clientes, estabelecendo um diferencial competitivo para sua empresa.

    10. Substrate specificity of the Bacillus subtilis BY-kinase PtkA is controlled by alternative activators: TkmA and SalA

      Directory of Open Access Journals (Sweden)

      Abderahmane Derouiche

      2016-09-01

      Full Text Available Bacterial protein-tyrosine kinases (BY-kinases are known to regulate different aspects of bacterial physiology, by phosphorylating cellular protein substrates. Physiological cues that trigger BY-kinases activity are largely unexplored. In Proteobacteria, BY-kinases contain a cytosol-exposed catalytic domain and a transmembrane activator domain in a single polypeptide chain. In Firmicutes, the BY-kinase catalytic domain and the transmembrane activator domain exist as separate polypeptides. We have previously speculated that this architecture might enable the Firmicutes BY-kinases to interact with alternative activators, and thus account for the observed ability of these kinases to phosphorylate several distinct classes of protein substrates. Here we present experimental evidence that supports this hypothesis. We focus on the model Firmicute-type BY-kinase PtkA from Bacillus subtilis, known to phosphorylate several different protein substrates. We demonstrate that the transcriptional regulator SalA, hitherto known as a substrate of PtkA, can also act as a PtkA activator. In doing so, SalA competes with the canonical PtkA activator, TkmA. Our results suggest that the respective interactions of SalA and TkmA with PtkA favor phosphorylation of different protein substrates in vivo and in vitro. This observation may contribute to explaining how specificity is established in the seemingly promiscuous interactions of BY-kinases with their cellular substrates.

    11. Apmierinātības ar dzīvi saistība ar sociālo salīdzināšanu.

      OpenAIRE

      Tamsone, Liliāna

      2011-01-01

      Šajā bakalaura darbā tika izvirzīti trīs pētījuma jautājumi: 1)Kāda saistība pastāv starp apmierinātību ar dzīvi un sociālās salīdzināšanas līmeni? 2)Kāda saistība pastāv starp apmierinātību ar dzīvi un augšupejošo salīdzināšanu? 3)Kāda saistība pastāv starp apmierinātību ar dzīvi un lejupejošo salīdzināšanu? Pētījumā piedalījās 58 respondenti – 12 vīrieši un 46 sievietes vecumā no 25 līdz 45 gadiem. Respondentu vidējais vecums ir M = 31,67, SD = 5,11. Pētījuma instrumentārijs iekļauj divas m...

    12. Pré-Sal: Petróleo e políticas públicas no Brasil (2007-2016

      Directory of Open Access Journals (Sweden)

      Paulo Henrique Martinez

      2016-06-01

      Full Text Available O artigo analisa a relação entre políticas sociais e economia no Brasil a partir da exploração do Pré-sal até os dias de hoje. O anúncio das reservas de petróleo na camada de Pré-sal resultou em rápidas alterações nas perspectivas econômicas, sociais e legais do país nas primeiras duas décadas do século XXI. A nova escala da produção petrolífera nacional seria a base para uma agenda de desenvolvimento econômico e social nos governos dos presidentes Lula e Dilma. Em seus respectivos governos ambos promoveram reformulações no marco regulatório do petróleo. A legislação foi alterada no tocante aos modelos de contrato, a distribuição dos royalties e o controle das reservas, assegurando ao Governo Federal maior soberania na extração, refino e distribuição do petróleo. As modificações legislativas e políticas visavam à destinação de parte dos lucros do Pré-sal para investimentos em infraestrutura e para políticas setoriais de desenvolvimento humano no Brasil.

    13. Oestrogen receptor beta isoform expression in sporadic colorectal cancer, familial adenomatous polyposis and progressive stages of colorectal cancer

      DEFF Research Database (Denmark)

      Stevanato Filho, Paulo Roberto; Aguiar Júnior, Samuel; Begnami, Maria Dirlei

      2017-01-01

      BACKGROUND: Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial adenomatous polyposis (FAP) syndrome and sporadic colorectal carcinomas are ...... provide a better understanding of oestrogens and their potential preventive and therapeutic effects on sporadic colorectal cancer and cancers associated with FAP syndrome.......BACKGROUND: Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial adenomatous polyposis (FAP) syndrome and sporadic colorectal carcinomas...... was identified in sporadic polyps and in sporadic colorectal cancer as well as in polyps from FAP syndrome patients compared with normal tissues (p

    14. Mutation analysis of the RET gene in individuals with sporadic and familial pheochromocytoma

      Energy Technology Data Exchange (ETDEWEB)

      Iyengar, S.; Sirugo, G.; Bale, A.E. [Yale Univ. School of Medicine, New Haven, CT (United States)] [and others

      1994-09-01

      Pheochromocytoma is common to many familial cancer syndromes including multiple endocrine neoplasia type 2A (MEN2A), von Hippel-Lindau (VHL) and neurofibromatosis (NF). Although sporadic cases of pheochromocytoma have been examined for mutations in exons 10, 11 and 16 of the RET gene, only one case with a mutation in exon 16 has been reported thus far. We are performing systematic examination of exons of the RET gene, which has previously been associated with mutation in both MEN2 A and B, to determine the role RET may play in the etiology of pheochromocytoma. Seventeen cases of sporadic pheochromocytoma and 3 cases of sporadic medullary thyroid carcinoma were obtained from the pathology archives. Histopathology of all specimens was confirmed to be either pheochromocytoma or medullary thyroid carcinoma before DNA was extracted from 0.5{mu} thin sections of paraffin-embedded tissue. DNA from familial pheochromocytoma patients was also available for analysis. All sporadic and familial cases were amplified for exons 2, 6 and 16 of the RET gene. Single strand conformational polymorphism (SSCP) analysis was performed for exons 2 and 6. On finding a variation in the SSCP pattern in the pheochromocytoma kindred we sequenced all the samples for exon 2. A single base pair variation was found, which did not segregate with pheochromocytoma in the family. No variant SSCP patterns have been observed with the exon 6 PCR products thus far. Exon 16 PCR products were subjected to DNA restriction analysis with Fok I. This enzyme detects a single base pair change associated with MEN2 B. With the exception of one sample with sporadic medullary thyroid carcinoma, all samples showed the normal pattern on DNA restriction analysis. Thus we can exclude exons 2 and 6 of the RET gene in the pathogenesis of pheochromocytoma. SSCP analyses with other exons in the RET gene are underway.

    15. BRCA promoter methylation in sporadic versus BRCA germline mutation-related breast cancers.

      Science.gov (United States)

      Vos, Shoko; Moelans, Cathy Beatrice; van Diest, Paul Joannes

      2017-05-31

      In breast cancer, BRCA promoter hypermethylation and BRCA germline mutations are said to occur together rarely, but this property has not yet been translated into a clinical test. Our aim in this study was to investigate the diagnostic value of BRCA1/2 methylation in distinguishing breast carcinomas of BRCA1 and BRCA2 germline mutation carriers from sporadic breast carcinomas using a recently developed BRCA methylation assay based on methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). MS-MLPAs were performed to assess BRCA1 and BRCA2 methylation in breast carcinoma tissues from 39 BRCA1 and 33 BRCA2 germline mutation carriers, 80 patients with sporadic breast cancer, and normal breast tissues from 5 BRCA1 and 4 BRCA2 mutation carriers and 5 nonmutation carriers. Methylation frequencies varied considerably between CpG sites across the BRCA1 and BRCA2 promoters. Some CpG sites were methylated more frequently in BRCA1/2-related than in sporadic carcinomas, whereas other CpG sites were methylated more frequently in sporadic carcinomas, with large variances in sensitivity and specificity as a consequence. The diagnostic value of BRCA promoter methylation analysis in distinguishing BRCA1/2-related from sporadic breast carcinomas seems to be considerably dependent on the targeted CpG sites. These findings are important for adequate use of BRCA methylation analysis as a prescreening tool for BRCA germline genetic testing or to identify BRCAness patients who may benefit from targeted therapies such as poly(adenosine diphosphate-ribose) polymerase inhibitors.

    16. Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.

      LENUS (Irish Health Repository)

      Kimmich, Okka

      2012-02-01

      Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadic adult-onset primary torsion dystonia are much more prevalent than familial. The temporal discrimination threshold is the shortest time interval at which two stimuli are detected to be asynchronous and has been shown to be abnormal in adult-onset primary torsion dystonia. The aim was to determine the frequency of abnormal temporal discrimination thresholds in patients with sporadic adult-onset primary torsion dystonia and their first-degree relatives. We hypothesized that abnormal temporal discrimination thresholds in first relatives would be compatible with an autosomal dominant endophenotype. Temporal discrimination thresholds were examined in 61 control subjects (39 subjects <50 years of age; 22 subjects >50 years of age), 32 patients with sporadic adult-onset primary torsion dystonia (cervical dystonia n = 30, spasmodic dysphonia n = 1 and Meige\\'s syndrome n = 1) and 73 unaffected first-degree relatives (36 siblings, 36 offspring and one parent) using visual and tactile stimuli. Z-scores were calculated for all subjects; a Z > 2.5 was considered abnormal. Abnormal temporal discrimination thresholds were found in 1\\/61 (2%) control subjects, 27\\/32 (84%) patients with adult-onset primary torsion dystonia and 32\\/73 (44%) unaffected relatives [siblings (20\\/36; 56%), offspring (11\\/36; 31%) and one parent]. When two or more relatives were tested in any one family, 22 of 24 families had at least one first-degree relative with an abnormal temporal discrimination threshold. The frequency of abnormal temporal discrimination thresholds in first-degree relatives of patients with sporadic adult-onset primary torsion dystonia is compatible with an autosomal dominant disorder and supports the hypothesis that apparently sporadic adult-onset primary torsion dystonia is genetic in origin.

    17. Characteristics of epidemic and sporadic strains of Acinetobacter baumannii isolated in Abu Dhabi hospitals.

      Science.gov (United States)

      Sonnevend, Agnes; Ghazawi, Akela; Al Munthari, Noura; Pitout, Martin; Hamadeh, Mohammad Baraa; Hashmey, Rayhan; Girgis, Safinaz Khaleel; Sheikh, Farrukh Amin; Al Haj, Mohamed; Nagelkerke, Nico; Pál, Tibor

      2013-04-01

      We compared the antibiotic susceptibility, clonal lineages and resistance genes of singleton Acinetobacter baumannii strains to those of isolates representing repeatedly encountered molecular types in five Abu Dhabi hospitals. One hundred and ten clinically relevant, non-repeat strains were typed by blaOXA-51-like allele sequencing and by PFGE, and selected isolates also by MLST. Resistance was assessed by MIC determinations and by disc diffusion. Genotyping was carried out by PCR, targeting 28 genes. The 80 epidemic strains belonged to worldwide lineages 1, 2 and 7, representing 11 pulsotypes and 9 genotypes, while the 30 sporadic isolates exhibited a high level of genetic variability and, with the exception of a small subgroup, were not associated with any recognized epidemic lineages. All epidemic subtypes carried the ISAba1-linked blaOXA-23 gene, and harboured the int, the blaPER and the armA genes significantly more frequently than their sporadic counterparts. They were all multi-drug resistant, including non-susceptibility to carbepenems, and were often extensively drug resistant, a phenomenon rarely seen among sporadic strains. Epidemic strains represented 78.8 % of intensive care unit isolates, causing more respiratory infections, while sporadic strains were more frequently isolated from wound and soft tissue infections. The study showed that among strains collected at the same time and from the same region, the very heterogeneous, sensitive sporadic strains, with the exception of a few non-susceptible singleton isolates, clearly differed from the highly resistant epidemic ones, which belonged to multiple pulsotypes and genotypes clustered into three worldwide clonal lineages carrying blaOXA-64, blaOXA-66 and blaOXA-69, respectively.

    18. A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.

      Directory of Open Access Journals (Sweden)

      Nasrine Bendjilali

      Full Text Available Brain arteriovenous malformations (BAVM are clusters of abnormal blood vessels, with shunting of blood from the arterial to venous circulation and a high risk of rupture and intracranial hemorrhage. Most BAVMs are sporadic, but also occur in patients with Hereditary Hemorrhagic Telangiectasia, a Mendelian disorder caused by mutations in genes in the transforming growth factor beta (TGFβ signaling pathway.To investigate whether copy number variations (CNVs contribute to risk of sporadic BAVM, we performed a genome-wide association study in 371 sporadic BAVM cases and 563 healthy controls, all Caucasian. Cases and controls were genotyped using the Affymetrix 6.0 array. CNVs were called using the PennCNV and Birdsuite algorithms and analyzed via segment-based and gene-based approaches. Common and rare CNVs were evaluated for association with BAVM.A CNV region on 1p36.13, containing the neuroblastoma breakpoint family, member 1 gene (NBPF1, was significantly enriched with duplications in BAVM cases compared to controls (P = 2.2×10(-9; NBPF1 was also significantly associated with BAVM in gene-based analysis using both PennCNV and Birdsuite. We experimentally validated the 1p36.13 duplication; however, the association did not replicate in an independent cohort of 184 sporadic BAVM cases and 182 controls (OR = 0.81, P = 0.8. Rare CNV analysis did not identify genes significantly associated with BAVM.We did not identify common CNVs associated with sporadic BAVM that replicated in an independent cohort. Replication in larger cohorts is required to elucidate the possible role of common or rare CNVs in BAVM pathogenesis.

    19. Aberrant distributions of nuclear pore complex proteins in ALS mice and ALS patients.

      Science.gov (United States)

      Shang, Jingwei; Yamashita, Toru; Nakano, Yumiko; Morihara, Ryuta; Li, Xianghong; Feng, Tian; Liu, Xia; Huang, Yong; Fukui, Yusuke; Hishikawa, Nozomi; Ohta, Yasuyuki; Abe, Koji

      2017-05-14

      Nuclear pore complexes (NPCs) play important roles in traffic of molecules between the nucleus and cytoplasm, aberrant distributions of components of NPCs were demonstrated in C9orf72 amyotrophic lateral sclerosis (C9-ALS) patients, but it is elusive whether such abnormities are also the case with other cause of ALS disease. In the present study, we investigated the spatiotemporal distributions of RanGAP1 and 4 representative nucleoporins (GP210, NUP205, NUP107 and NUP50) of NPCs in human Cu/Zn superoxide dismutase-1 mutation transgenic (SOD1-Tg) mice and sporadic ALS patients. Compared with wild type (WT), these proteins displayed age-dependent and progressive nuclear precipitations, and cytoplasmic aberrant expressions in motor neurons of lumbar cord in SOD1-Tg mice from 10 to 18weeks (W). Double immunofluorescent analysis showed abnormal nuclear retention and apparent co-localizations of RanGAPl with NUP205 and NUP205 with NUPl07, meanwhile, GP210 with NUP205 mainly co-localized in the nuclear envelope (NE) of motor neurons. Furthermore, RanGAP1, GP210 and NUP50 showed similarly abnormal nuclear precipitations and cytoplasmic upregulations in SOD1-Tg mice and ALS patients, moreover, aberrant co-localizations of RanGAP1 with TDP-43 and NUP205 with TDP-43 were also observed in motor neurons. The present study indicated that the mislocalization of these proteins of NPCs may underlie the pathogenesis of ALS both in SOD1-Tg mice and human sporadic ALS patients, and these dysfunctions may be a fundamental pathway for ALS that is not specific only in C9-ALS but also in SOD1-ALS, which may be amenable to pharmacotherapeutic intervention. Copyright © 2017 IBRO. Published by Elsevier Ltd. All rights reserved.

    20. Geometric microliths as chronological and cultural markers in the Sado shell middens? Reflections from Amoreiras (Alcácer do Sal, Portugal

      Directory of Open Access Journals (Sweden)

      Diana Nukushina

      2015-02-01

      a comprehensive approach to the social issues in the Sado valley, during the Mesolithic-Neolithic transition. La producción de microlitos geométricos a partir de hojitas ha sido considerada como una de las principales estrategias de producción de herramientas líticas en el suroeste de Portugal durante el Mesolítico Final. Los concheros del Sado contienen generalmente gran cantidad de estas herramientas, al igual que ocurre en yacimientos de otras regiones. Sin embargo, todavía son escasos los estudios sistemáticos realizados a estas industrias líticas. En este trabajo discutimos el valor de los microlitos geométricos como marcadores cronológicos y culturales, a partir del análisis de los materiales líticos recuperados en el conchero de Amoreiras (Alcácer do Sal. En primer lugar realizamos una caracterización formal de estas industrias. En segundo lugar ofrecemos una perspectiva diacrónica y cultural de estos materiales de los concheros del Sado. Finalmente los comparamos con otros conjuntos del Mesolítico Final y del Neolítico Antiguo procedentes del sudoeste de la península ibérica. Hemos realizado un análisis tecno-tipológico a un conjunto de piezas procedentes de Amoreiras y recuperadas en los años cincuenta y sesenta, siguiendo el modelo de ‘chaîne opératoire’ (cadena operativa lítica; y también un estudio estadístico, incluyendo un análisis de la varianza. Mostramos que en Amoreiras la elaboración de microlitos representa con claridad uno de trabajos principales de talla, con una considerable uniformidad tipológica y de tamaño; todo ello sugiere la existencia de una producción de microlitos geométricos perfectamente estandarizada, siguiendo un esquema productivo que sería más económico en cuanto a las necesidades de materia prima y la relación tiempo-esfuerzo. El material y los datos cronológicos procedentes de Amoreiras contradicen la uniformidad cultural habitualmente defendida para este yacimiento y en general para

    1. Ti, Al

      Indian Academy of Sciences (India)

      In the present study, authors report on the effect that substrate bias voltage has on the microstructure and mechanical properties of (Ti, Al)N hard coatings deposited with cathodic arc evaporation (CAE) technique. The coatings were deposited from a Ti0.5Al0.5 powder metallurgical target in a reactive nitrogen atmosphere at ...

    2. EVALUACIÓN DE LA ACTIVIDAD CITOTÓXICA Y ANTIMICROBIANA DEL COMPUESTO [Ag(phen2]salH

      Directory of Open Access Journals (Sweden)

      Daniel Moyano

      2011-12-01

      Full Text Available En este artículo se evaluó la actividadantimicrobiana y citotóxica de un nuevocomplejo de plata(I con el ión salicilatoy 1,10-fenantrolina. La caracterizaciónde este compuesto se realizó por espectroscopiade resonancia magnética nuclearde protón y carbono-13 (RMN 1Hy 13C, espectroscopia de absorción en laregión de infrarrojo (IR, análisis térmico(TG/DSC y análisis elemental (CHN.Los resultados obtenidos a través de estosmétodos sugieren la formación del compuestocon fórmula empírica [Ag(phen2]salH. Cuando fue comparada la actividadantimicrobiana y citotóxica de este complejocon otros compuestos de plata(I ycobre(II de actividad conocida, se observóque el ligante 1,10-fenantrolina incrementaestas propiedades. El compuestoen estudio, presenta la mayor inhibicióndel crecimiento bacteriano, los microorganismosGram positivos fueron los mássusceptibles. La actividad citotóxica fueevaluada en un panel de cinco líneas celularestumorales humanas: MDA-MB231,PC-3, HT-29, HEp-2 y A549. A las concentracionesevaluadas, el compuestoprodujo una respuesta citotóxica dosisdependienteen todas las líneas celularestumorales, particularmente para laslíneas tumorales HT-29, MDA-MB231 yA549. Todo esto, sugiere su gran potencialpara usos quimioterapéuticos.

    3. The Heterogeneity Between Lynch-Associated and Sporadic MMR Deficiency in Colorectal Cancers.

      Science.gov (United States)

      Liu, Guo-Chen; Liu, Ran-Yi; Yan, Jun-Ping; An, Xin; Jiang, Wu; Ling, Yi-Hong; Chen, Jie-Wei; Bei, Jin-Xin; Zuo, Xiao-Yu; Cai, Mu-Yan; Liu, Ze-Xian; Zuo, Zhi-Xiang; Liu, Ji-Hong; Pan, Zhi-Zhong; Ding, Pei-Rong

      2018-02-20

      Previous studies demonstrated that prognosis of germline deficiency in mismatch repair protein (dMMR) was different from that of sporadic dMMR. The underlying mechanism has not been studied. From a prospectively maintained database, we collected dMMR colorectal cancer (CRC) patients identified by postoperative immunohistochemistry screening. According to genetic test, patients were grouped as Lynch-associated or sporadic dMMR. We compared the clinical-pathological features, prognosis, and immunoreactive differences between the two groups. By whole-exome sequencing and neoantigen detection pipeline, mutational frequencies and neoantigen burdens were also compared. All statistical tests were two-sided. Sixty-seven sporadic dMMR and 85 Lynch-associated CRC patients were included in the study. Sporadic dMMR patients were older (P < .001) and their tumors were poorly differentiated (P = .03). The survival was better in the Lynch-associated group (P = .001). After adjustment, the difference still remained statistically significant (hazard ratio = 0.29, 95% confidence interval = 0.09 to 0.95, P = .04). The scores of Crohn's-like reaction (CRO; P < .001), immunoreactions in the invasive margin (IM; P = .01), tumor stroma (TS; P = .009), and cancer nest (CN; P = .02) of the Lynch-associated group were statistically significantly higher. The numbers of CD3+, CD8+, Foxp3+ tumor-infiltrating lymphocytes (TILs) in IM; CD3+, CD4+ TILs in TS; and CD3+, CD4+, CD8+ TILs in CN were statistically significantly higher in Lynch-associated dMMR patients. Based on the 16 patients who under went whole-exome sequencing, there were also more somatic mutations and neoantigen burdens in the Lynch-associated group compared with the sporadic dMMR group (439/pt vs 68/pt, P = .006; 628/pt vs 97/pt, P = .009). There are heterogeneities in dMMR CRCs. Lynch-associated dMMR patients present with more somatic mutations and neoantigens compared with sporadic dMMR, which probably results in stronger

    4. Can the TLR-4-Mediated Signaling Pathway Be “A Key Inflammatory Promoter for Sporadic TAA”?

      Directory of Open Access Journals (Sweden)

      Giovanni Ruvolo

      2014-01-01

      Full Text Available Thoracic aorta shows with advancing age various changes and a progressive deterioration in structure and function. As a result, vascular remodeling (VR and medial degeneration (MD occur as pathological entities responsible principally for the sporadic TAA onset. Little is known about their genetic, molecular, and cellular mechanisms. Recent evidence is proposing the strong role of a chronic immune/inflammatory process in their evocation and progression. Thus, we evaluated the potential role of Toll like receptor- (TLR- 4-mediated signaling pathway and its polymorphisms in sporadic TAA. Genetic, immunohistochemical, and biochemical analyses were assessed. Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR=14.4, P=0.0008 and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor. In consistency with these data, a significant association was observed between their combined risk genotype and sporadic TAA. Cases bearing this risk genotype showed higher systemic inflammatory mediator levels, significant inflammatory/immune infiltrate, a typical MD phenotype, lower telomere length, and positive correlations with histopatological abnormalities, hypertension, smoking, and ageing. Thus, TLR4 pathway should seem to have a key role in sporadic TAA. It might represent a potential useful tool for preventing and monitoring sporadic TAA and developing personalized treatments.

    5. Immunohistochemistry for annexin A10 can distinguish sporadic from Lynch syndrome-associated microsatellite-unstable colorectal carcinoma.

      Science.gov (United States)

      Pai, Reetesh K; Shadrach, Bonnie L; Carver, Paula; Heald, Brandie; Moline, Jessica; Church, James; Kalady, Matthew F; Burke, Carol A; Plesec, Thomas P; Lai, Keith K; Gonzalo, David H; Pai, Rish K

      2014-04-01

      Differentiating sporadic microsatellite-unstable colorectal carcinoma due to MLH1 promoter hypermethylation from Lynch syndrome (LS)-associated tumors due to mutations in mismatch-repair proteins is time consuming, cost intensive, and requires advanced laboratory testing. A mutation in BRAF has been shown to be highly specific for sporadic tumors; however, a significant proportion of sporadic microsatellite-unstable tumors lack BRAF mutations. MLH1 promoter methylation analysis is subsequently used to differentiate LS and sporadic tumors, but both tests require specialized laboratories and are costly. Through previous gene expression profiling of serrated polyps, we identified annexin A10 as a protein highly expressed in sessile serrated adenomas/polyps. As these polyps give rise to the majority of sporadic microsatellite-unstable tumors, we evaluated the ability of annexin A10 expression to discriminate between LS and sporadic tumors. A marked increase in annexin A10 mRNA was observed in sporadic microsatellite-unstable tumors compared with LS tumors (378-fold increase, Pimmunohistochemistry, annexin A10 was expressed in 23/53 (43%) BRAF-mutated and 9/22 (41%) BRAF wild-type sporadic tumors. In contrast, only 3/56 (5%) LS tumors were positive for annexin A10 (Pimmunohistochemistry. Only 1/28 (4%) LS tumors with loss of MLH1 was positive for annexin A10. This patient did not have a deleterious MLH1 mutation but rather germline promoter hypermethylation of MLH1. On the basis of these results, immunohistochemistry for annexin A10 may be a useful marker to distinguish sporadic from LS-associated microsatellite-unstable colon cancer.

    6. al junctions

      African Journals Online (AJOL)

      Preferred Customer

      Bruan and Heeger,. 1991), Schottky barrier devices (Gardner and Tan,. 1989; Bantikassegn Workalemahu and Inganas,. 1997; Granstrom et al., 1998), organic solar cells. (Abay Gadisa and ... the capacitance per unit area of the cell as well as.

    7. MRI in sporadic Creutzfeldt-Jakob disease: Correlation with clinical and neuropathological data

      Energy Technology Data Exchange (ETDEWEB)

      Urbach, H.; Solymosi, L. [Department of Neuroradiology, University of Wuerzburg (Germany); Klisch, J.; Brechtelsbauer, D. [Department of Neuroradiology, University of Bonn, Bonn (Germany); Wolf, H.K. [Department of Neuropathology, University of Bonn, Bonn (Germany); Gass, S. [Department of Neurology, University of Bonn, Bonn (Germany)

      1998-02-01

      To ascertain whether increased grey matter signal intensity on T2-weighted images in patients with sporadic Creutzfeldt-Jakob disease (CJD) corresponds to the stage and severity of this disease, we correlated MRI findings in four of our own and previously reported patients with sporadic CJD with the clinical variants, neuropathological changes at autopsy, duration of the disease and survival time after MRI examination. Of 15 patients with the extrapyramidal type of CJD, 10 showed increased signal in the basal ganglia on T2-weighted images. One of seven patients with the Heidenhain variant had increased signal in the occipital cortex. Patients without increased grey matter signal intensity had a longer overall duration of CJD (P = 0.035). Although the interval between onset of neurological symptoms and MRI was not different, patients without increased grey matter signal also survived longer after MRI examination (P = 0.022). (orig.) With 5 figs., 2 tabs., 23 refs.

    8. MRI in sporadic Creutzfeldt-Jakob disease: Correlation with clinical and neuropathological data

      International Nuclear Information System (INIS)

      Urbach, H.; Solymosi, L.; Klisch, J.; Brechtelsbauer, D.; Wolf, H.K.; Gass, S.

      1998-01-01

      To ascertain whether increased grey matter signal intensity on T2-weighted images in patients with sporadic Creutzfeldt-Jakob disease (CJD) corresponds to the stage and severity of this disease, we correlated MRI findings in four of our own and previously reported patients with sporadic CJD with the clinical variants, neuropathological changes at autopsy, duration of the disease and survival time after MRI examination. Of 15 patients with the extrapyramidal type of CJD, 10 showed increased signal in the basal ganglia on T2-weighted images. One of seven patients with the Heidenhain variant had increased signal in the occipital cortex. Patients without increased grey matter signal intensity had a longer overall duration of CJD (P = 0.035). Although the interval between onset of neurological symptoms and MRI was not different, patients without increased grey matter signal also survived longer after MRI examination (P = 0.022). (orig.)

    9. Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients

      Directory of Open Access Journals (Sweden)

      Hanae Takatsuki, PhD

      2016-10-01

      Full Text Available Human prion diseases are neurodegenerative disorders caused by abnormally folded prion proteins in the central nervous system. These proteins can be detected using the quaking-induced conversion assay. Compared with other bioassays, this assay is extremely sensitive and was used in the present study to determine prion distribution in sporadic Creutzfeldt-Jakob disease patients at autopsy. Although infectivity of the sporadic form is thought to be restricted within the central nervous system, results showed that prion-seeding activities reach 106/g from a 50% seeding dose in non-neuronal tissues, suggesting that prion-seeding activity exists in non-neural organs, and we suggested that non-neural tissues of 106/g SD50 did not exist the infectivity.

    10. Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients.

      Science.gov (United States)

      Takatsuki, Hanae; Fuse, Takayuki; Nakagaki, Takehiro; Mori, Tsuyoshi; Mihara, Ban; Takao, Masaki; Iwasaki, Yasushi; Yoshida, Mari; Murayama, Shigeo; Atarashi, Ryuichiro; Nishida, Noriyuki; Satoh, Katsuya

      2016-10-01

      Human prion diseases are neurodegenerative disorders caused by abnormally folded prion proteins in the central nervous system. These proteins can be detected using the quaking-induced conversion assay. Compared with other bioassays, this assay is extremely sensitive and was used in the present study to determine prion distribution in sporadic Creutzfeldt-Jakob disease patients at autopsy. Although infectivity of the sporadic form is thought to be restricted within the central nervous system, results showed that prion-seeding activities reach 10 6 /g from a 50% seeding dose in non-neuronal tissues, suggesting that prion-seeding activity exists in non-neural organs, and we suggested that non-neural tissues of 10 6 /g SD50 did not exist the infectivity. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

    11. Data on inflammasome gene polymorphisms of patients with sporadic malignant melanoma in a Brazilian cohort

      Directory of Open Access Journals (Sweden)

      Wanessa Cardoso da Silva

      2017-02-01

      Full Text Available This article presents data related to our another article entitled, Genotyping and differential expression analysis of inflammasome genes in sporadic malignant melanoma reveal novel contribution of CARD8, IL1B and IL18 in melanoma susceptibility and progression (W.C. Silva, T.M. Oshiro, D.C. Sá, D.D.G.S. Franco, C. Festa Neto, A. Pontillo, 2016 [2]. Data presented here refers to the distribution of selected inflammasome SNPs in a Brazilian case/control cohort. We have identified 4 inflammasome related Single Nucleotide Polymorphisms (SNPs for CARD8 (rs6509365; IL1B (rs1143643 and IL18 (rs5744256 and rs1834481 related to melanoma susceptibility/protection. This data can serve as a potential prognostic marker in sporadic malignant melanoma.

    12. Source attribution of human salmonellosis and campylobacteriosos using a systematic review of studies of sporadic infections

      DEFF Research Database (Denmark)

      Coutinho Calado Domingues, Ana Rita; Pires, Sara Monteiro; Hald, Tine

      . Identifying the most important sources of human disease is essential for prioritizing food safety interventions and setting public health goals. Numerous case-control studies of sporadic infections of salmonellosis and campylobacteriosis have been published. These studies investigate a variety of potential...... or statistical analysis of data, and conclusions. With the objective of identifying the most important risk factors for human sporadic salmonellosis and campylobacteriosis, we performed a SR of case-control studies and meta-analysis of the obtained results. From 1,295 identified references, 132 passed...... the relevance screening, 73 passed the quality assessment stage, and data was extracted from 72. Of these studies, 34 investigated risk factors for human salmonellosis and 37 focused on campylobacteriosis. Heterogeneity between the studies and possible sources of bias were assessed. Information on exposures...

    13. Sporadic sodium and E layers observed during the summer 2002 MaCWAVE/MIDAS rocket campaign

      Directory of Open Access Journals (Sweden)

      B. P. Williams

      2006-07-01

      Full Text Available On 5 July 2002, a MaCWAVE (Mountain and Convective Waves Ascending VErtically payload launched from Andøya Rocket Range, Norway, observed narrow enhanced layers of electron density that were nearly coincident with sporadic sodium layers measured by the Weber sodium lidar at the nearby ALOMAR Observatory. We investigate the formation mechanism of these layers using the neutral wind and temperature profiles measured directly by the lidar and the vertical motion deduced from the sodium mixing ratio. Through comparisons of the lidar data to the sporadic E in situ data, we find support for the concentration and downward motion of ions to an altitude where chemical models predict the rapid conversion of sodium ions to neutral sodium.

    14. Post-and prenatal testing for FSHD: Diagnostic approach for sporadic and familial cases

      Energy Technology Data Exchange (ETDEWEB)

      Bakker, E.; Wielen, M.J.R. van der; Losekoot, M. [Leiden Univ. (Netherlands)] [and others

      1994-09-01

      Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder. A major locus for FSHD was localized at the distal part of chromosome 4q. More recently, a disease associated DNA rearrangement was detected with the polymorphic probe p13E-11 (D4F104S1). In most FSHD patients, a shortened (< 28 kb instead of 50-300 kb) allele was detected. In sporadic patients a de novo deletion was found to be associated with the occurrence of FSHD. Diagnostically there were a number of problems to overcome. (1) About 5% of families show no linkage to chromosome 4q35. (2) Some 10% normal individuals show a shortened p13E11 allele, which is located at chromosome 10q. Our diagnostic strategy is as follows: If in sporadic patients a shortened p13E-11 allele is detected and neither parent shows this allele, then a de novo deletion has occurred and FSHD is proven. If no shortened allele is detected FSHD is less likely. In case one of the parents shows a shortened allele then clinical investigations and linkage studies are performed for both chromosome 4 and 10 markers. In familial cases both p13E-11 and polymorphic markers are tested. A shortened p13E-11 allele and/or chromosome 4 haplotype segregating with FSHD can be used for presymptomatic and prenatal diagnosis. Up to now, 45 sporadic cases and 21 families were referred for diagnosis. In 22 sporadic cases a shortened allele was detected, 13 were proven de novo. The first prenatal test was recently performed. The index patient was a de novo case with a shortened allele; the fetus had inherited this allele.

    15. BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan.

      Directory of Open Access Journals (Sweden)

      Ainur R. Akilzhanova

      2013-05-01

      Full Text Available Background: A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Kazakhstan women. Aim: To evaluate the role of BRCA1/2 mutations in Kazakhstan women presenting with sporadic breast cancer. Methods: We investigated the distribution and nature of polymorphisms in BRCA1 and BRCA2 entire coding regions in 156 Kazakhstan sporadic breast cancer cases and 112 age-matched controls using automatic direct sequencing. Results: We identified 22 distinct variants, including 16 missense mutations and 6 polymorphisms in BRCA1/2 genes. In BRCA1, 9 missense mutations and 3 synonymous polymorphisms were observed. In BRCA2, 7 missense mutations and 3 polymorphisms were detected. There was a higher prevalence of observed mutations in Caucasian breast cancer cases compared to Asian cases (p<0.05; higher frequencies of sequence variants were observed in Asian controls. No recurrent or founder mutations were observed in BRCA1/2 genes. There were no statistically significant differences in age at diagnosis, tumor histology, size of tumor, and lymph node involvement between women with breast cancer with or without the BRCA sequence alterations. Conclusions: Considering the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of BRCA1/2 mutations and reliable genetic counseling for Kazakhstan sporadic breast cancer patients. Evaluation of common polymorphisms and mutations and breast cancer risk in families with genetic predisposition to breast cancer is ongoing in another current investigation. 

    16. Association of apolipoprotein E allele {epsilon}4 with late-onset sporadic Alzheimer`s disease

      Energy Technology Data Exchange (ETDEWEB)

      Lucotte, G.; David, F.; Berriche, S. [Regional Center of Neurogenetics, Reims (France)] [and others

      1994-09-15

      Apolipoprotein E, type {epsilon}4 allele (ApoE {epsilon}4), is associated with late-onset sporadic Alzheimer`s disease (AD) in French patients. The association is highly significant (0.45 AD versus 0.12 controls for {epsilon}4 allele frequencies). These data support the involvement of ApoE {epsilon}4 allele as a very important risk factor for the clinical expression of AD. 22 refs., 1 fig., 3 tabs.

    17. High-risk population in sporadic pancreatic adenocarcinoma: guidelines for screening.

      Science.gov (United States)

      Bruenderman, Elizabeth H; Martin, Robert C G

      2015-03-01

      Pancreatic cancer (PC) is one of the most deadly forms of cancer in the United States, with an annual incidence to death ratio of 0.92 because of the late stage at diagnosis. Identification of high-risk individuals (HRIs) that would be ideal for screening is needed to identify precursor lesions and small early stage disease. Those with a genetic predisposition have largely been identified, but little is known about those at high-risk for sporadic PC. This study asserts that a high-risk population does exist in sporadic pancreatic adenocarcinoma and proposes simple guidelines for screening. A systematic review was conducted of the literature regarding identification of and screening in high-risk groups. Those with the highest genetic risk of developing PC include those with hereditary pancreatitis (87 times more likely at age 55), Peutz-Jehgers syndrome (132 times more likely at age 50), p16-Leiden mutations (48 times more likely), and familial pancreatic cancer (FPC) kindreds (32 times more likely). Those with the highest risk of developing sporadic PC include those with new-onset diabetes older than 50 y and smoking history. Given that sporadic PC is the single largest patient population effected with this devastating disease, some form of screening should be initiated. Currently, the medical community does nothing to attempt early detection of PC. However, sufficient evidence now exists to begin a screening protocol in a high-risk cohort, which would be patients with new-onset diabetes older than 50 y and a smoking history. Copyright © 2015 Elsevier Inc. All rights reserved.

    18. Absence of RET proto-oncogene abnormalities in sporadic parathyroid tumors

      Energy Technology Data Exchange (ETDEWEB)

      Pausova, Z.; Janicic, N.; Konrad, E. [McGill Univ. and Royal Victoria Hospital, Montreal (Canada)] [and others

      1994-09-01

      Parathyroid tumors can occur either sporadically or as a part of inherited cancer syndromes such as multiple endocrine neoplasia (MEN) type 2A. Recently, development of this syndrome has been shown to be related to specific mutations in the RET proto-oncogene, a putative receptor tyrosine kinase. Activation of this proto-oncogene has been demonstrated not only in tumors of the MEN 2A syndrome, but also in other neoplasia of neuroectoderm origin, namely papillary thyroid carcinoma where a rearrangement of the RET proto-oncogene has been found. In the present study, a role of the RET proto-oncogene in the development of sporadic parathyroid tumors was investigated by analyzing DNA samples obtained from 13 parathyroid adenomas and 6 parathyroid hyperplasias. Southern blot, using BamHI restricted DNA, did not reveal any gross alteration of the gene. Polymerase chain reaction (PCR) was then employed to amplify DNA fragments corresponding to exons 10 and 11 in which all MEN 2A mutations have been identified. Amplified DNA fragments were all of expected size (exon 10, 182 bp; exon 11, 233 bp). Since a single point mutation at codon 634 has been found to be associated in close to 90% of cases with development of parathyroid tumors in patients with the MEN 2A syndrome, exon 11, containing this codon, was further examined by direct sequence analysis. Sequences obtained from all tumors tested, however, did not differ from the wild type sequence. Therefore, the mutation of the RET proto-oncogene commonly associated with parathyroid neoplasias in MEN 2A is uncommon in sporadic parathyroid tumors. This suggests that the pathogenesis of parathyroid tumors occurring sporadically may be different from those occurring in patients with the MEN 2A syndrome.

    19. Height and critical frequency variations of the sporadic-E layer at midlatitudes

      Czech Academy of Sciences Publication Activity Database

      Šauli, Petra; Bourdillon, A.

      2008-01-01

      Roč. 70, č. 15 (2008), s. 1904-1910 ISSN 1364-6826 R&D Projects: GA AV ČR IAA300420704 Grant - others:European Union(XE) COST 296 Institutional research plan: CEZ:AV0Z30420517 Keywords : Sporadic E * Planetary waves * Tidal waves * Mid-latitude ionosphere * Wavelet transform Subject RIV: DG - Athmosphere Sciences, Meteorology Impact factor: 1.667, year: 2008

    20. Novel multiple endocrine neoplasia type 1 variations in patients with sporadic primary hyperparathyroidism

      Directory of Open Access Journals (Sweden)

      S Birla

      2016-01-01

      Full Text Available Background and Objectives: Primary hyperparathyroidism (PHPT can occur either as a sporadic case or in association with syndromes such as multiple endocrine neoplasia. Multiple endocrine neoplasia type 1 (MEN1 is a rare autosomal-dominant disease resulting from mutations in MEN1 gene encoding a 621 amino acid long tumor suppressor protein “menin.” We report here the results of MEN1 screening in 31 patients diagnosed with sporadic PHPT. Materials and Methods: Diagnosis of sporadic PHPT was made when blood urea and serum creatinine were normal, serum parathyroid hormone was high, and parathyroid enlargement could be localized on ultrasound and/or parathyroid scan. A total of 31 patients and 50 healthy volunteers were recruited for molecular analysis after taking informed consent. Results: Major symptoms at presentation were bone pain, fatigue, muscle weakness, and renal stones. Molecular genetic analysis revealed the presence of two novel intronic variations, c. 913-79T>A and c. 784-129T>A which by human splicing finder are predicted to cause potential alteration of splicing by either activating an intronic cryptic acceptor site or converting a conserved exonic splicing silencer sequence to an exonic splicing enhancer site. Apart from these, two reported polymorphisms rs144677807 and rs669976 were seen only in patients and none of the controls. Other reported polymorphisms rs2071313 and rs654440 were identified both in controls and patients. Conclusions: This is the first study of MEN1 gene screening in sporadic PHPT in India reporting on the clinical and genetic findings, wherein two novel intronic variations c. 913-79T>A and c. 784-129T>A were identified showing their possible role in disease causation.

    1. Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas

      Science.gov (United States)

      Moura, M M; Cavaco, B M; Pinto, A E; Domingues, R; Santos, J R; Cid, M O; Bugalho, M J; Leite, V

      2009-01-01

      Screening of REarranged during Transfection (RET) gene mutations has been carried out in different series of sporadic medullary thyroid carcinomas (MTC). RET-positive tumours seem to be associated to a worse clinical outcome. However, the correlation between the type of RET mutation and the patients' clinicopathological data has not been evaluated yet. We analysed RET exons 5, 8, 10–16 in fifty-one sporadic MTC, and found somatic mutations in thirty-three (64.7%) tumours. Among the RET-positive cases, exon 16 was the most frequently affected (60.6%). Two novel somatic mutations (Cys630Gly, c.1881del18) were identified. MTC patients were divided into three groups: group 1, with mutations in RET exons 15 and 16; group 2, with other RET mutations; group 3, having no RET mutations. Group 1 had higher prevalence (P=0.0051) and number of lymph node metastases (P=0.0017), and presented more often multifocal tumours (P=0.037) and persistent disease at last control (P=0.0242) than group 2. Detectable serum calcitonin levels at last screening (P=0.0119) and stage IV disease (P=0.0145) were more frequent in group 1, than in the other groups. Our results suggest that, among the sporadic MTC, cases with RET mutations in exons 15 and 16 are associated with the worst prognosis. Cases with other RET mutations have the most indolent course, and those with no RET mutations have an intermediate risk. PMID:19401695

    2. Down-regulation of BRCA1 in chronic pancreatitis and sporadic pancreatic adenocarcinoma.

      Science.gov (United States)

      Beger, Carmela; Ramadani, Marco; Meyer, Stephan; Leder, Gerd; Krüger, Martin; Welte, Karl; Gansauge, Frank; Beger, Hans G

      2004-06-01

      BRCA1 and BRCA2 are considered to be breast cancer susceptibility genes that may also contribute to pancreatic cancer development because family studies revealed mutation carriers to have an increased risk of developing pancreatic cancer. However, as demonstrated for breast and ovarian cancer, inactivation of BRCA in sporadic diseases is based on alteration in gene expression or functional alteration. To study a potential correlation of BRCA1 and BRCA2 to chronic pancreatitis and development of sporadic pancreatic adenocarcinoma, we have analyzed the expression of these genes by quantitative PCR and performed immunohistochemical analyses in normal pancreatic tissues, chronic pancreatitis, and pancreatic cancer specimens. BRCA1 expression was down-regulated in chronic alcoholic pancreatitis, in particular on the RNA level. Furthermore, our data indicate suppressed BRCA1 expression in pancreatic cancer on both the RNA and protein levels. Quantitative analysis of BRCA1 protein expression demonstrated regular staining in 50% of tumor specimens tested and reduced staining in 50% of tumor specimens tested. Correlation with the clinical outcome revealed a significantly better 1-year overall survival for patients with BRCA1-regular as compared with BRCA1-reduced or BRCA1-absent tumors. In contrast, no substantial differences in BRCA2 expression were found in chronic pancreatitis and pancreatic cancer samples. Our data demonstrate alteration of BRCA1 expression in chronic pancreatitis and sporadic pancreatic adenocarcinoma. We, for the first time, provide evidence for a role of BRCA1 in pancreatic carcinogenesis of noninherited tumors and for clinical outcome.

    3. Measuring sporadic gastrointestinal illness associated with drinking water - an overview of methodologies.

      Science.gov (United States)

      Bylund, John; Toljander, Jonas; Lysén, Maria; Rasti, Niloofar; Engqvist, Jannes; Simonsson, Magnus

      2017-06-01

      There is an increasing awareness that drinking water contributes to sporadic gastrointestinal illness (GI) in high income countries of the northern hemisphere. A literature search was conducted in order to review: (1) methods used for investigating the effects of public drinking water on GI; (2) evidence of possible dose-response relationship between sporadic GI and drinking water consumption; and (3) association between sporadic GI and factors affecting drinking water quality. Seventy-four articles were selected, key findings and information gaps were identified. In-home intervention studies have only been conducted in areas using surface water sources and intervention studies in communities supplied by ground water are therefore needed. Community-wide intervention studies may constitute a cost-effective alternative to in-home intervention studies. Proxy data that correlate with GI in the community can be used for detecting changes in the incidence of GI. Proxy data can, however, not be used for measuring the prevalence of illness. Local conditions affecting water safety may vary greatly, making direct comparisons between studies difficult unless sufficient knowledge about these conditions is acquired. Drinking water in high-income countries contributes to endemic levels of GI and there are public health benefits for further improvements of drinking water safety.

    4. Sporadic nesting reveals long distance colonisation in the philopatric loggerhead sea turtle (Caretta caretta).

      Science.gov (United States)

      Carreras, Carlos; Pascual, Marta; Tomás, Jesús; Marco, Adolfo; Hochscheid, Sandra; Castillo, Juan José; Gozalbes, Patricia; Parga, Mariluz; Piovano, Susanna; Cardona, Luis

      2018-01-23

      The colonisation of new suitable habitats is crucial for species survival at evolutionary scale under changing environmental conditions. However, colonisation potential may be limited by philopatry that facilitates exploiting successful habitats across generations. We examine the mechanisms of long distance dispersal of the philopatric loggerhead sea turtle (Caretta caretta) by analysing 40 sporadic nesting events in the western Mediterranean. The analysis of a fragment of the mitochondrial DNA and 7 microsatellites of 121 samples from 18 of these nesting events revealed that these nests were colonising events associated with juveniles from distant populations feeding in nearby foraging grounds. Considering the temperature-dependent sex determination of the species, we simulated the effect of the incubation temperature and propagule pressure on a potential colonisation scenario. Our results indicated that colonisation will succeed if warm temperature conditions, already existing in some of the beaches in the area, extend to the whole western Mediterranean. We hypothesize that the sporadic nesting events in developmental foraging grounds may be a mechanism to overcome philopatry limitations thus increasing the dispersal capabilities of the species and the adaptability to changing environments. Sporadic nesting in the western Mediterranean can be viewed as potential new populations in a scenario of rising temperatures.

    5. Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.

      Science.gov (United States)

      Verma, Anshuman; Das, Manoranjan; Srinivasan, Muthiah; Prajna, Namperumalsamy V; Sundaresan, Periasamy

      2013-03-18

      The involvement of VSX1 gene for the genetic basis of keratoconus is unclear and controversial. The genetic screening of VSX1 from different ethnic populations can enlighten this subject. The aim of the present study is to investigate the role of VSX1 gene in patients with sporadic cases of keratoconus from South India. The VSX1 gene coding regions, including exon-intron boundaries were screened by direct sequencing analysis in 117 sporadic cases of keratoconus. The identified variations were also analyzed in 108 ethnic matched healthy blood donors. In the VSX1 gene screening, no pathogenic mutation was identified, whereas we could find the presence of four reported single nucleotide polymorphisms; c.546A>G (rs12480307), c.627+23G>A (rs6138482), c.627+84T>A (rs56157240) and c.504-24C>T (IVS3-24C). These variations were observed in similar frequency between cases and controls. The lack of VSX1 pathogenic variations in a large number of unrelated sporadic keratoconus patients tend to omit its role, and corroborate the involvement of other genetic, environmental or behavioural factors in the development of this complex disorder.

    6. Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

      Science.gov (United States)

      Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; Machts, Judith; Schöls, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin M; Boesch, Sylvia; Eigentler, Andreas; van de Warrenburg, Bart; van Gaalen, Judith; Kamm, Christoph; Dudesek, Ales; Kang, Jun-Suk; Timmann, Dagmar; Silvestri, Gabriella; Masciullo, Marcella; Klopstock, Thomas; Neuhofer, Christiane; Ganos, Christos; Filla, Alessandro; Bauer, Peter; Tezenas du Montcel, Sophie; Klockgether, Thomas

      2017-09-05

      To define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations. The primary measure of disease severity was the Scale for the Assessment and Rating of Ataxia (SARA). DNA samples were screened for mutations using a high-coverage ataxia-specific gene panel in combination with next-generation sequencing. The analysis was performed on 249 participants. Among them, 83 met diagnostic criteria of clinically probable multiple system atrophy cerebellar type (MSA-C) at baseline and another 12 during follow-up. Positive MSA-C criteria (4.94 ± 0.74, p 10 years were designated sporadic adult-onset ataxia of unknown etiology/non-MSA (SAOA/non-MSA). Compared with MSA-C, SAOA/non-MSA patients had lower SARA scores (13.6 ± 6.0 vs 16.0 ± 5.8, p = 0.0200) and a slower annual SARA increase (1.1 ± 2.3 vs 3.3 ± 3.2, p = 0.0013). In 11 of 194 tested participants (6%), a definitive or probable genetic diagnosis was made. Our study provides quantitative data on the clinical phenotype and progression of sporadic ataxia with adult onset. Screening for causative mutations with a gene panel approach yielded a genetic diagnosis in 6% of the cohort. NCT02701036. © 2017 American Academy of Neurology.

    7. Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review.

      Science.gov (United States)

      Iijima, Shigeo

      2017-12-18

      Isolated congenital asplenia (ICA) is a rare and life-threatening condition that predisposes patients to severe bacterial infections. Most of the reported cases are familial and the mode of inheritance is usually autosomal dominant. Here, we report a case of sporadic isolated asplenia and review the literature while focusing on sporadic cases. We report the case of an 11-month-old female infant who developed fulminant pneumococcal meningitis. The pneumococcal vaccine-unimmunized patient was hospitalized with fever, irritability, and purpura, and was diagnosed as having meningitis, septic shock, and disseminated intravascular coagulation. Streptococcus pneumoniae was isolated from both cerebrospinal fluid and blood. She was successfully treated with prompt antibiotic therapy. During hospitalization, abdominal ultrasonography and computed tomography findings, scintigraphy results, and Howell-Jolly body-containing red blood cells indicated the presence of asplenia without any visceroarterial anomalies. Moreover, the findings of peripheral blood smears and spleen ultrasonographic examinations of her parents were normal. Majority of sporadic ICA cases were detected only after the onset of overwhelming infection and had a high mortality. In cases of severe invasive pneumococcal disease, a systematic search for Howell-Jolly bodies on blood smears and the presence of asplenia on abdominal imaging are essential for detecting ICA even in the absence of any family history. After the diagnosis of ICA, patient and parent education, vaccinations, antibiotic prophylaxis, and prompt empiric treatment of febrile episode should be provided.

    8. Fruit and vegetable intake during pregnancy and risk for development of sporadic retinoblastoma.

      Science.gov (United States)

      Orjuela, Manuela A; Titievsky, Lina; Liu, Xinhua; Ramirez-Ortiz, Marco; Ponce-Castaneda, Veronica; Lecona, Evelia; Molina, Evelyn; Beaverson, Katherine; Abramson, David H; Mueller, Nancy E

      2005-06-01

      Little is known about the causes of sporadic (noninherited) retinoblastoma. Rates seem to be somewhat higher among poorer populations in Mexico. Fruits and vegetables are important sources of carotenoids and folate. We examined whether decreased gestational maternal intake of fruits and vegetables may contribute to development of sporadic retinoblastoma. At the Instituto Nacional de Pediatria in Mexico City, we conducted a hospital-based case-control study to evaluate prenatal maternal diet. We examined dietary intake of fruits and vegetables of mothers of 101 children with retinoblastoma and 172 control children using a dietary recall questionnaire and published food nutrient content tables. The reported number of mean daily servings of fruits and vegetables was lower among case mothers when compared with control mothers [vegetables: 2.28 in controls, 1.75 in cases (P vegetables and fruits was higher in controls (103 microg) than in cases (48 microg; P vegetables [odds ratios (OR), 3.4; 95% confidence interval (95% CI), 2.0-6.0] or with a low intake of folate (OR, 3.9; 95% CI, 2.1, 7.3), or lutein/zeaxanthin (OR, 2.6; 95% CI, 1.5-4.6) derived from fruits and vegetables. Decreased intake of vegetables and fruits during pregnancy and the consequent decreased intake of nutrients such as folate and lutein/zeaxanthin, necessary for DNA methylation, synthesis, and retinal function, may increase risk for having a child with sporadic retinoblastoma.

    9. Expression of the Circadian Clock Genes Pert, Per2 in Sporadic, Familial Breast Tumors

      Directory of Open Access Journals (Sweden)

      Sherry L. Winter

      2007-10-01

      Full Text Available There is a growing body of evidence implicating aberrant circadian clock expression in the development of cancer. Based on our initial experiments identifying a putative interaction between BRCA1, the clock proteins Per1, Per2, as well as the reported involvement of the circadian clock in the development of cancer, we have performed an expression analysis of the circadian clock genes Per1, Per2 in both sporadic, familial primary breast tumors, normal breast tissues using real-time polymerase chain reaction. Significantly decreased levels of Per1 were observed between sporadic tumors, normal samples (P < .00001, as well as a further significant decrease between familial, sporadic breast tumors for both Per1 (P < .00001, Per2 (P < .00001. Decreased Per1 was also associated with estrogen receptor negativity (53% vs 15%, P = .04. These results suggest a role for both Perl, Per2 in normal breast function, show for the first time that deregulation of the circadian clock may be an important factor in the development of familial breast cancer. Aberrant expression of circadian clock genes could have important consequences on the transactivation of downstream targets that control the cell cycle, on the ability of cells to undergo apoptosis, potentially promoting carcinogenesis.

    10. Occurrence of the blanketing sporadic E layer during the recovery phase of the October 2003 superstorm

      Science.gov (United States)

      Denardini, Clezio Marcos; Resende, Laysa Cristina Araújo; Moro, Juliano; Chen, Sony Su

      2016-05-01

      We have routinely monitored the total frequency ( ftEs) and the blanketing frequency ( fbEs) of sporadic E layers with the digital sounder under the magnetic equator in the Brazilian sector. Sporadic layers appear in the equatorial region (Esq) at heights between 90 and 130 km, mainly due to irregularities in the equatorial electrojet current. However, during the recovery phase of the October 2003 superstorm, an anomalous intensification of the ionospheric density that exceeded the normal ambient background values for local time and location was observed. The parameter fbEs rose to almost 7.5 MHz during this event, due to a type "c" blanketing sporadic layer (Esc), which is driven by wind shear. This result is discussed in terms of the atmosphere dynamics based on magnetic signature of the equatorial electrojet current using magnetometer data. Also, using data measured by sensors onboard the Geostationary Operational Environmental Satellite (GOES) 10 we analyze the possible influence of the solar flare-associated X-ray flux as an additional source of ionization.

    11. Performance of D-Parameters in Isolating Meteor Showers from the Sporadic Background

      Science.gov (United States)

      Moorhead, Althea

      2016-01-01

      It is often necessary to draw a division between meteor showers and the sporadic meteor complex in order to study these components of the meteoroid environment. Meteor showers persist for less than a season and are composed of members with a greater-than-average degree of orbital similarity. The level of orbital similarity is often quantified using so-called D-parameters; a D-parameter cutoff may be employed to define or extract a shower. Depending on the study, this cutoff value may be chosen based on the size of the data-set, the percentage of sporadic meteors within the data-set, or the inclination of the shower in question. We argue that the cutoff value should also reject the strength of the shower compared to the local sporadic background. We therefore present a method for determining, on a per-shower basis, the D-parameter cutoff that limits the false-positive rate to an acceptable percentage. If the false-positive rate exceeds this percentage regardless of cutoff value, we deem the shower to be undetectable in our data. We apply this method to optical meteor observations from the NASA All-Sky and Southern Ontario Meteor Networks and present the detectable meteor showers and their characteristics.

    12. Large-scale carbonate platform development of Cay Sal Bank, Bahamas, and implications for associated reef geomorphology

      Science.gov (United States)

      Purkis, Sam; Kerr, Jeremy; Dempsey, Alexandra; Calhoun, Andrew; Metsamaa, Liisa; Riegl, Bernhard; Kourafalou, Villy; Bruckner, Andrew; Renaud, Philip

      2014-10-01

      The Bahama Archipelago consists of an arcuate chain of carbonate platforms. Average water depths on the platform-tops, such as the Great Bahama Bank (GBB), are typically 10 m or less, with coral reef-rimmed margins, thick sediment accumulations, and the frequent occurrence of islands. There are, however, exceptions. For example, Cay Sal Bank (CSB), a little studied detached Bahamian carbonate platform with depths ranging from 30 to 7 m, is only slightly deeper than the GBB, but devoid of islands, lacks platform-margin coral reefs and holds little sediment on the platform-top; the platform is incipiently drowned. CSB is interesting as it is conspicuously larger (6000 sq. km) than other incipiently drowned platforms in the region, such as Serranilla Bank (1100 sq. km) and the Cat Island platform (1500 sq. km). Field and remote sensing data are assembled to provide insight into the sedimentology and geomorphology of the CSB. The influence of ocean climate, regional hydrodynamics, and Holocene flooding history are investigated to understand why platform-margin coral reef growth on CSB has been unable to keep pace with Holocene sea-level rise. A decade of regional sea-surface temperature data for the Bahamas report CSB to be situated in the same ocean climate regime as GBB. Temperature cannot explain the platform's different morphologies. The Florida Current has been evoked as a possible reason for the immature development of platform-top processes on the CSB, but numeric modeling suggests its influence to be restricted to the deep flanks of the bank. Further, sediment distribution on CSB, including infill patterns of karst depressions, suggest trade winds (easterlies) to drive platform-top hydrodynamics. By assembling a satellite-derived bathymetry map, it can be shown that CSB flooded earlier and at relatively higher rates of Holocene sea-level rise than its neighboring platforms. Flooding history is identified as the most feasible explanation for the atypical

    13. Surto de intoxicação por sal em ovinos no estado do Pará

      Directory of Open Access Journals (Sweden)

      Marcos D. Duarte

      2014-11-01

      Full Text Available O presente trabalho relata um surto de intoxicação por sal em ovinos no Brasil, em uma propriedade no estado do Pará. De um total de 545 ovinos, oito animais adoeceram (1,46% e quatro destes morreram (50%. A avaliação das instalações e do manejo indicaram como fatores predisponentes a ingestão excessiva de mistura mineral e a restrição hídrica. Os principais sinais clínicos foram decúbito, diminuição ou ausência da sensibilidade cutânea, ausência dos reflexos de ameaça, palpebral e auricular, midríase, nistagmo, opistótono, espasticidade de membros, sonolência e estupor. Havia ainda, timpanismo, diarreia, taquipneia, taquicardia, desidratação e poliúria. A evolução do quadro clínico nos animais que morreram variou de duas horas e meia a 48 horas. As médias das concentrações séricas de sódio e de potássio de 31 ovinos do mesmo lote afetado pela intoxicação, em amostras colhidas durante o surto, revelaram hipernatremia (190mEq/l e hipercalemia (8,2mEq/l. À necropsia, observou-se em um animal, achatamento das circunvoluções cerebrais. Microscopicamente, neste animal, evidenciou-se vacuolização moderada do neurópilo, particularmente nas lâminas intermediárias do córtex cerebral, com aumento dos espaços perineural e perivascular. Nessas áreas foram observados ainda, acentuada tumefação e edema dos astrócitos e necrose neuronal aguda. A dosagem de sódio no encéfalo de um ovino, revelou-se elevada com valor de 3.513ppm. O diagnóstico foi realizado com base na epidemiologia, nos sinais clínicos, nas lesões macro e microscópicas e nas dosagens de sódio no soro e no encéfalo dos ovinos.

    14. Uso de sal durante o transporte de juvenis (1kg de pirarucu (Arapaima gigas Use of salt during the transportation of pirarucu juveniles (1kg (Arapaima gigas

      Directory of Open Access Journals (Sweden)

      Franmir Rodrigues Brandão

      2008-12-01

      Full Text Available O pirarucu é um peixe nativo da bacia Amazônica cuja criaçãovem sendo estudada em algumas partes do Brasil. O objetivo desse trabalho foi testar o sal de cozinha como mitigador de estresse durante o transporte de juvenis de pirarucu (1 kg. Para isso, os peixes foram transportados em dois diferentes sistemas: caixas sem adição de oxigênio (transporte aberto e sacos plásticos com injeção de oxigênio e lacrado (transporte fechado. Nos dois sistemas os peixes foram transportados em três diferentes tratamentos: controle e duas concentrações de sal na água (3 e 6 g.L-1. Após o transporte os peixes foram colocados em viveiros para avaliação da recuperação. Foram analisados parâmetros do metabolismo energético (cortisol, glicose e lactato e de hematologia (hematócrito. O sal de cozinha não foi eficiente em mitigar as respostas de estresse no transporte em nenhum dos dois sistemas de transporte estudados.Pirarucu is a native fish of the Amazon basin, widely used in culture systems in some parts of Brazil. The objective of this work was to test table salt as a stress mitigator during transportation of pirarucu juveniles (1kg. Fish were transported by two different systems: boxes without addition of oxygen (open system and closed oxygen filled plastic bags (closed system. To both systems fish were transported at three different treatments: control and two table salt concentration (3 and 6 gL-1. After transportation, fish were stocked in ponds to monitor recovery. Metabolic (cortisol, glucose and lactate and hematological (hematocrit parameters were analyzed. The table salt was not efficient in mitigating stress response during the both tested transport system.

    15. Estudo microbiológico do sal (Cloreto de sódio de origem marinha Microbiological study of marine salt (sodium chloride

      Directory of Open Access Journals (Sweden)

      Niber da Paz Moreira da Silva

      1976-01-01

      Full Text Available Foram analisadas 19 amostras de SAL (NaCl, tipo grosso, oriundas de diferentes salinas, para verificação da flora microbiana e presença de bactérias nocivas em Microbiologia Alimentar. O material apresentou grande contaminação por microrganismos saprófitas, bactérias aeróbias e anaeróbias, Gram positivas e negativas, proteolíticas, pigmentadas, esporuladas, leveduras e fungos. A alta incidência das bactérias halofílicas "vermelhas", responsáveis pela deterioração de carnes, pescados e outros produtos salgados foi estudada. A freqüência, em 15 amostras de SAL, de bactérias esporuladas termorresistentes foi calculada em 33%, possuindo um SAL germe termofílico. Para anaeróbios a positividade foi de 80%, havendo esporulação em 40% das culturas isoladas. Os índices para leveduras e fungos foram de 73% e 93%, respectivamente.19 samples of marine salt (NaCl, granular type, from different salines, were analized to verify the microbial flora and the presence of "food-poisoning" bacteria. The material presented a great contamination by saprofit microorganisms, aerobic and anaerobic bacteria Gram positives and negatives, proteolitics, pigmented, sporulated, yeast and fungi. The high incidence of "red halophilic bacteria", responsible for meat deterioration, fish and other salted products, was studied. The frequence, in 15 samples of salt, of sporulated heat-resistant bacteria was estimated at 33% containing one salt termophilic germ. For anaerobic microorganisms the positiveness reached 80%, sporulation processed in 40% of the isolated cultures. The index for yeast and fungi was 73% and 93%, respectively.

    16. Effectiveness of sal deoiled seed cake as an inducer for protease production from Aeromonas sp. S1 for its application in kitchen wastewater treatment.

      Science.gov (United States)

      Saini, Vandana; Bhattacharya, Amrik; Gupta, Anshu

      2013-08-01

      The present study is an attempt to demonstrate the feasibility of sal (Shorea robusta) deoiled cake--a forest-based industrial by-product--as a cheaper media supplement for augmented protease production from Aeromonas sp. S1 and application of protease in the treatment of kitchen wastewater. Under optimized conditions, protease production could successfully be enhanced to 5.13-fold (527.5 U mL(-1)) on using sal deoiled seed cake extract (SDOCE), as medium additive, compared to an initial production of 102.7 U mL(-1) in its absence. The culture parameters for optimum production of protease were determined to be incubation time (48 h), pH (7.0), SDOCE concentration (3 % (v/v)), inoculum size (0.3-0.6 % (v/v)), and agitation rate (100 rpm). The enzyme was found to have an optimum pH and temperature of 8.0 and 60 °C, respectively. The protease preparation was tested for treatment of organic-laden kitchen wastewater. After 96 h of wastewater treatment under static condition, enzyme preparation was able to reduce 74 % biological oxygen demand, 37 % total suspended solids, and 41 % oil and grease. The higher and improved level of protease obtained using sal deoiled seed cake-based media hence offers a new approach for value addition to this underutilized biomass through industrial enzyme production. The protease produced using this biomass could also be used as pretreatment tool for remediation of organic-rich food wastewater.

    17. An Experiment to Study Sporadic Sodium Layers in the Earth's Mesosphere and Lower Thermosphere

      Science.gov (United States)

      Swenson, Charles M.

      2002-01-01

      The Utah State University / Space Dynamics Lab was funded under a NASA Grant. This investigation has been part of Rockwell Universities Sudden Atom Layer Investigation (SAL). USU/SDL provided an electron density measurement instrument, the plasma frequency probe, which was launched on the vehicle 21.117 from Puerto-Rico in February of 1998. The instrument successfully measured electron density as designed and measurement techniques included in this version of the Plasma Frequency probe provided valuable insight into the electron density structures associated with sudden sodium layers in a collisional plasma. Electron density data was furnished to Rockwell University but no science meetings were held by Rockwell Data from the instrument was presented to the scientific community at the URSI General Session in 1999. A paper is in preparation for publication in Geophysical Research Letters. The following document provides a summary of the experiment and data obtained as a final report on this grant.

    18. Preservation of the Digital Culture: Archiving the World Wide Web Sayısal (Dijital Kültürün Korunması: Web Arşivleme

      Directory of Open Access Journals (Sweden)

      Ahmet Aldemir

      2006-09-01

      Full Text Available Information growth in the web medium has required the necessity of archiving these information to transmit them to future generations. Web archiving is a versatile application which covers technical, legal and organizational dimensions. Any stage within the life cycle of digital information is critically important for the information in web environment. All over the world, many countries have started web archiving efforts through the leadership of their national libraries and attempted to carry these initiatives on a legal bases. In the light of these developments, this paper examines the necessity and major techniques in web archiving and it also discuss national and international web archiving projects. Web ortamında yaşanan bilgi artışı, beraberinde bu bilgilerin gelecek nesillere aktarılması amacıyla arşivlenmesi gereğini gündeme getirmiştir. Web'in arşivlenmesi teknik, yasal ve örgütsel boyutları olan çok yönlü bir uygulamadır. Sayısal ortamda üretilmiş bilginin yaşam döngüsündeki her bir aşama, web ortamında yer alan bilgiler için hayati önem taşımaktadır. Dünyada bir çok ülke milli kütüphaneleri öncülüğünde web arşivleme çalışmalarını başlatmış ve bu girişimlerinin yasal bir platforma taşınması için gerekli adımlar atılmıştır. Bu gelişmeler ışığında çalışmamızda, web'in neden arşivlenmesi gerektiğine değinilmiş, web arşivlemede kullanılan belli başlı yaklaşımlar ele alınmış, ulusal ve uluslararası ölçekli web arşivleme çalışmalarına yer verilmiştir.

    19. Poder judiciário fluminense e capixaba diante do comércio internacional e do pré-sal: novos desafios

      OpenAIRE

      Saraiva, Wellington Beckman

      2012-01-01

      As transformações recentes das relações sociais e econômicas incrementados pelo dinamismo do comércio internacional, sua crescente complexidade e as recémdescobertas reservas petrolíferas na camada pré-sal, aliadas ao fenômeno da globalização, contribuem para o processo de internacionalização do Direito. Esse cenário tem demandado, ainda, novos instrumentos de solução dos conflitos e de controle social, exigindo dos magistrados brasileiros maior expertise no julgamento das d...

    20. Análise comparativa entre as propriedades do gesso obtido de rejeito da produção de sal e gesso comerciais

      OpenAIRE

      Costa, Juliana Elionara Bezerra

      2013-01-01

      Os impactos ambientais, ocasionados pela geração de resíduos sólidos, são uma preocupação bastante citada na atualidade. Alguns desses resíduos, provenientes das mais variadas atividades humanas, podem ser totalmente reaproveitados, diminuindo o efeito desses impactos, geralmente ocasionado pela má disposição, no meio ambiente. Durante o processo de produção do sal, os primeiros cristais formados são descartados como resíduo industrial. Este é constituído basicamente por gipsita, um sulfato d...

    1. Los orígenes de la producción de sal: evidencias, funciones y valor en el Neolítico europeo

      OpenAIRE

      Weller, Olivier

      2004-01-01

      A partir de un recorrido sobre los conocimientos actuales a escala europea, el autor trata sobre los orígenes de la producción de la sal durante el Neolítico y el Calcolítico, dedicando una especial atención a los diferentes tipos de evidencias (vertederos cerámicos, estructuras, carbones, útiles mineros ... ), a las técnicas de fabricación y a los sistemas de control de la producción. Una vez analizada la manera cómo estas producciones se sitúan en determinados contextos sociales, se llega a...

    2. Sporadic diffuse segmental interstitial cell of Cajal hyperplasia harbouring two gastric gastrointestinal stromal tumours (GIST mimicking hereditary GIST syndromes

      Directory of Open Access Journals (Sweden)

      Mafalda Costa Neves

      2015-01-01

      Conclusion: We describe a diffuse form of sporadic ICC hyperplasia harbouring multifocal GISTs, mimicking diffuse ICC hyperplasia in hereditary GIST syndromes. Detection of somatic c-KIT exon 11 mutation ruled out a hereditary disorder.

    3. Cancer driver-passenger distinction via sporadic human and dog cancer comparison: a proof of principle study with colorectal cancer

      OpenAIRE

      Tang, Jie; Li, Yaping; Lyon, Kenneth; Camps, Jordi; Dalton, Stephen; Ried, Thomas; Zhao, Shaying

      2013-01-01

      Herein we report a proof of principle study illustrating a novel dog-human comparison strategy that addresses a central aim of cancer research, namely cancer driver–passenger distinction. We previously demonstrated that sporadic canine colorectal cancers (CRCs) share similar molecular pathogenesis mechanisms as their human counterparts. In this study, we compared the genome-wide copy number abnormalities between 29 human- and 10 canine sporadic CRCs. This led to the identification of 73 drive...

    4. Allele doses of apolipoprotein E type {epsilon}4 in sporadic late-onset Alzheimer`s disease

      Energy Technology Data Exchange (ETDEWEB)

      Lucotte, G.; Aouizerate, A.; Gerard, N. [Regional Center of Neurogenetics, Paris (France)] [and others

      1995-12-18

      Apoliprotein E, type {epsilon}4 allele (ApoE-{epsilon}4) is associated with late-onset sporadic Alzheimer`s disease (AD). We have found that the cumulative probability of remaining unaffected over time decreases for each dose of ApoE-{epsilon}4 in sporadic, late-onset French AD. The effect of genotypes on age at onset of AD was analyzed using the product limit method, to compare unaffected groups during aging. 26 refs., 2 figs., 1 tab.

    5. Sporadic early-onset colorectal cancer is a specific sub-type of cancer: a morphological, molecular and genetics study.

      Directory of Open Access Journals (Sweden)

      Sylvain Kirzin

      Full Text Available Sporadic early onset colorectal carcinoma (EOCRC which has by definition no identified hereditary predisposition is a growing problem that remains poorly understood. Molecular analysis could improve identification of distinct sub-types of colorectal cancers (CRC with therapeutic implications and thus can help establish that sporadic EOCRC is a distinct entity. From 954 patients resected for CRC at our institution, 98 patients were selected. Patients aged 45-60 years were excluded to help define "young" and "old" groups. Thirty-nine cases of sporadic EOCRC (patients ≤ 45 years with microsatellite stable tumors were compared to both microsatellite stable tumors from older patients (36 cases, patients>60 years and to groups of patients with microsatellite instability. Each group was tested for TP53, KRAS, BRAF, PIK3CA mutations and the presence of a methylator phenotype. Gene expression profiles were also used for pathway analysis. Compared to microsatellite stable CRC from old patients, sporadic EOCRC were characterized by distal location, frequent synchronous metastases and infrequent synchronous adenomas but did not have specific morphological characteristics. A familial history of CRC was more common in sporadic EOCRC patients despite a lack of identified hereditary conditions (p = 0.013. Genetic studies also showed the absence of BRAF mutations (p = 0.022 and the methylator phenotype (p = 0.005 in sporadic EOCRC compared to older patients. Gene expression analysis implicated key pathways such as Wnt/beta catenin, MAP Kinase, growth factor signaling (EGFR, HGF, PDGF and the TNFR1 pathway in sporadic EOCRC. Wnt/beta catenin signaling activation was confirmed by aberrant nuclear beta catenin immunostaining (p = 0.01. This study strongly suggests that sporadic EOCRC is a distinct clinico-molecular entity presenting as a distal and aggressive disease associated with chromosome instability. Furthermore, several signaling pathways including the

    6. Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones

      NARCIS (Netherlands)

      Highley, J. Robin; Kirby, Janine; Jansweijer, Joeri A.; Webb, Philip S.; Hewamadduma, Channa A.; Heath, Paul R.; Higginbottom, Adrian; Raman, Rohini; Ferraiuolo, Laura; Cooper-Knock, Johnathan; McDermott, Christopher J.; Wharton, Stephen B.; Shaw, Pamela J.; Ince, Paul G.

      2014-01-01

      Loss of nuclear TDP-43 characterizes sporadic and most familial forms of amyotrophic lateral sclerosis (ALS). TDP-43 (encoded by TARDBP) has multiple roles in RNA processing. We aimed to determine whether (1) RNA splicing dysregulation is present in lower motor neurones in ALS and in a motor

    7. Validación del método Potenciométrico por Ión Selectivo para la determinación de Flúor en sal, agua y orina

      Directory of Open Access Journals (Sweden)

      Patricia Aguilar R

      2001-01-01

      Full Text Available Objetivo: Validar el método potenciómetro por ión selectivo en la determinación de fluoruro. Materiales y métodos: Se analizaron 3 tipos de muestras (sal, agua, y orina, trabajándose con 3 analistas para el agua y sal, y 2 para la orina. La validación se realizó en 2 días, realizándose 10 ensayos por día. Se calculó la precisión (en condiciones de repetibilidad y reproducibilidad y exactitud del método (en términos de recuperación del analito adicionado a la muestra. Resultados: Se obtuvo una desviación estándar relativa (RSD de 2.68%, 3.29% y 2.52% en sal, agua y orina, respectivamente, y se logró recuperar 98.20%, 99.42% y 98.11 % del analito en las mismas muestras de sal, agua y orina, respectivamente. Conclusión: El método potenciómetro, por ión selectivo, realizado en condiciones óptimas y apropiadas, puede aplicarse para la determinación de flúor en muestras de sal, agua y orina.

    8. Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES).

      Science.gov (United States)

      Liu, Yong; Cao, Yu; Li, Yaxiong; Lei, Dongyun; Li, Lin; Hou, Zong Liu; Han, Shen; Meng, Mingyao; Shi, Jianlin; Zhang, Yayong; Wang, Yi; Niu, Zhaoyi; Xie, Yanhua; Xiao, Benshan; Wang, Yuanfei; Li, Xiao; Yang, Lirong; Wang, Wenju; Jiang, Lihong

      2018-03-05

      BACKGROUND Recently, mutations in several genes have been described to be associated with sporadic ASD, but some genetic variants remain to be identified. The aim of this study was to use whole-exome sequencing (WES) combined with bioinformatics analysis to identify novel genetic variants in cases of sporadic congenital ASD, followed by validation by Sanger sequencing. MATERIAL AND METHODS Five Han patients with secundum ASD were recruited, and their tissue samples were analyzed by WES, followed by verification by Sanger sequencing of tissue and blood samples. Further evaluation using blood samples included 452 additional patients with sporadic secundum ASD (212 male and 240 female patients) and 519 healthy subjects (252 male and 267 female subjects) for further verification by a multiplexed MassARRAY system. Bioinformatic analyses were performed to identify novel genetic variants associated with sporadic ASD. RESULTS From five patients with sporadic ASD, a total of 181,762 genomic variants in 33 exon loci, validated by Sanger sequencing, were selected and underwent MassARRAY analysis in 452 patients with ASD and 519 healthy subjects. Three loci with high mutation frequencies, the 138665410 FOXL2 gene variant, the 23862952 MYH6 gene variant, and the 71098693 HYDIN gene variant were found to be significantly associated with sporadic ASD (PASD (PASD, and supported the use of WES and bioinformatics analysis to identify disease-associated mutations.

    9. High prevalence of exon 8 G533C mutation in apparently sporadic medullary thyroid carcinoma in Greece.

      Science.gov (United States)

      Sarika, H L; Papathoma, A; Garofalaki, M; Vasileiou, V; Vlassopoulou, B; Anastasiou, E; Alevizaki, M

      2012-12-01

      Genetic screening for ret mutation has become routine practice in the evaluation of medullary thyroid carcinoma (MTC). Approximately 25% of these tumours are familial, and they occur as components of the multiple endocrine neoplasia type 2 syndromes (MEN 2A and 2B) or familial MTC. In familial cases, the majority of mutations are found in exons 10, 11, 13, 14 or 15 of the ret gene. A rare mutation involving exon 8 (G533C) has recently been reported in familial cases of MTC in Brazil and Greece; some of these cases were originally thought to be sporadic. The aim of this study was to re-evaluate a series of sporadic cases of MTC, with negative family history, and screen them for germline mutations in exon 8. Genomic DNA was extracted from peripheral lymphocytes in 129 unrelated individuals who had previously been characterized as 'sporadic' based on the negative family history and negative screening for ret gene mutations. Samples were analysed in Applied Biosystems 7500 real-time PCR and confirmed by sequencing. The G533C exon 8 mutation was identified in 10 of 129 patients with sporadic MTC. Asymptomatic gene carriers were subsequently identified in other family members. In our study, we found that 7·75% patients with apparently sporadic MTC do carry G533C mutation involving exon 8 of ret. We feel that there is now a need to include exon 8 mutation screening in all patients diagnosed as sporadic MTC, in Greece. © 2012 Blackwell Publishing Ltd.

    10. et al

      African Journals Online (AJOL)

      Schalk Cloete

      experienced (Bath, 2006), while indications are that no new drenches are in the process of being developed. Existing strategies for the control of these pathogens are thus challenged (Bath, 2006), and alternative strategies need to be formulated (Vatta et al., 2000). A possible avenue for dealing with the challenge of ...

    11. A relação entre educação pré-primária, salários, escolaridade e proficiência escolar no Brasil

      Directory of Open Access Journals (Sweden)

      Andréa Zaitune Curi

      2009-12-01

      Full Text Available Neste artigo analisamos a relação entre a educação pré-primária (creche e pré-escola e os salários, a escolaridade e a proficiência escolar no Brasil, utilizando dados da PPV e do SAEB. Os resultados mostram que a pré-escola tem uma relação positiva e significante com a conclusão dos quatro ciclos escolares, com efeito marginal crescente nos três primeiros, e que a creche tem relação positiva e significante apenas com a conclusão do ensino médio e do ensino universitário. Além disso, a pré-escola está associada com um aumento de 1 ano e meio de escolaridade e de 16% na renda, independentemente da sua relação com a educação. Finalmente, os alunos que frequentaram a pré-escola têm um desempenho escolar melhor, medido por testes de proficiência, na 4ª e 8ª séries do ensino fundamental e na 3ª série do ensino médio.This paper examines the relations between daycare and pre-school, wages, education and school performance in Brazil using a survey with detailed information on education and earnings trajectories. We find that pre-school attendance has a positive relationship with primary, middle school, high school and college conclusion, even when we condition on parental education. Pre-schooling is associated with increases of 1.5 year in schooling and about 27% in wages. Pre-schooling is also associated with increases in standardized test scores in the 4th, 8th and 11th grades.

    12. Preparation and characterization of Tb3+ and Tb(sal)3.nH2O doped PC:PMMA blend

      International Nuclear Information System (INIS)

      Dwivedi, Y.; Singh, A.K.; Prakash, Rajiv; Rai, S.B.

      2011-01-01

      Tb doped polycarbonate:poly(methyl methacrylate) (Tb-PC:PMMA) blend was prepared with varying proportions of PC and PMMA. Thermal and spectroscopic properties of the doped polymer have been investigated employing Fourier Transform Infrared (FTIR) absorption and differential scanning calorimetric (DSC) techniques. PC:PMMA blend (with 10 wt% PC and 90 wt% PMMA) shows better miscibility. Optical properties of the dopant Tb 3+ ions have been investigated using UV-vis absorption and fluorescence excited by 355 nm radiation. It is seen that luminescence intensity of Tb 3+ ion depends on PC:PMMA ratio and on Tb 3+ ion concentration. Concentration quenching is seen for TbCl 3 .6H 2 O concentration larger than 4 wt%. Addition of salicylic acid to the polymer blend increases the luminescence from Tb 3+ ions. Luminescence decay curve analysis affirms the non-radiative energy transfer from salicylic acid to Tb 3+ ions, which is identified as the reason behind this enhancement. - Highlights: → Blend formation is confirmed at PC/90PMMA, using FTIR and DSC techniques. → Absorption and bandgap studies of blend and parent components were studied. → Optical properties of Tb and Tb(sal) 3 .nH 2 O complex have been studied in PC/PMMA blend. → Luminescence decay curves confirm non-radiative energy transfer from Sal to Tb 3+ ions.

    13. O discurso sob outros discursos: Salústio e a disputa entre grupos políticos no final da República

      Directory of Open Access Journals (Sweden)

      Marcelo Vieira Fernandes

      2008-12-01

      Full Text Available Salústio se empenha na caracterização moral da nobilitas, ao menos daquela cujos vícios teriam conduzido à exacerbação das desigualdades e finalmente à guerra civil. Entretanto, o pareamento entre César e Catão, mediante os respectivos discursos, estando o último a censurar o comportamento da pars mesma de que ele próprio é defensor, bem como o retrato de Mário, cujas qualidades iniciais teriam degenerado no vício da ambitio, apontam para um plano de construção da Conjuração de Catilina e da Guerra de Jugurta que, se pode ser acusado de parcialidade política, parece ter como pretensão uma espécie de “neutralidade” filosófica, que buscaria evidenciar os vícios de uns e outros, e assim compor, no espaço das letras, um quadro complexo: o retrato, para Salústio, de seu ideal político irrealizado. Procurarei mostrar como o discurso próprio desse ideal, presente nos prefácios àquelas monografias, se deixa entrever também na reconstrução retórica dos discursos daquelas personagens.

    14. Motivos da prática de dança de salão nas aulas de educação física escolar

      OpenAIRE

      Shibukawai,Rodrigo Massami; Guimarães,Adriana Coutinho de Azevedo; Machado,Zênite; Soares,Amanda

      2011-01-01

      O estudo de corte transversal analisou os motivos da prática da dança de salão nas aulas de Educação Física escolar de escolas particulares, relacionando-os com o gênero, seu tempo de prática e participação em eventos de dança de salão. Obteve-se uma amostra de 279 alunos com idade de 15,5 ± 1,0 anos, matriculados nas aulas de dança de salão como Educação Física escolar. Aplicou-se o questionário de motivação para as atividades desportivas - QMAD, adaptado de SERPA e FRIAS (1990) e SERPA (199...

    15. Seasonal variability and descent of mid-latitude sporadic E layers at Arecibo

      Directory of Open Access Journals (Sweden)

      N. Christakis

      2009-03-01

      Full Text Available Sporadic E layers (Es follow regular daily patterns in variability and altitude descent, which are determined primarily by the vertical tidal wind shears in the lower thermosphere. In the present study a large set of sporadic E layer incoherent scatter radar (ISR measurements are analyzed. These were made at Arecibo (Geog. Lat. ~18° N; Magnetic Dip ~50° over many years with ISR runs lasting from several hours to several days, covering evenly all seasons. A new methodology is applied, in which both weak and strong layers are clearly traced by using the vertical electron density gradient as a function of altitude and time. Taking a time base equal to the 24-h local day, statistics were obtained on the seasonal behavior of the diurnal and semidiurnal tidal variability and altitude descent patterns of sporadic E at Arecibo. The diurnal tide, most likely the S(1,1 tide with a vertical wavelength around 25 km, controls fully the formation and descent of the metallic Es layers at low altitudes below 110 km. At higher altitudes, there are two prevailing layers formed presumably by vertical wind shears associated mainly with semidiurnal tides. These include: 1 a daytime layer starting at ~130 km around midday and descending down to 105 km by local midnight, and 2 a less frequent and weaker nighttime layer which starts prior to midnight at ~130 km, descending downwards at somewhat faster rate to reach 110 km by sunrise. The diurnal and semidiurnal-like pattern prevails, with some differences, in all seasons. The differences in occurrence, strength and descending speeds between the daytime and nighttime upper layers are not well understood from the present data alone and require further study.

    16. Transarterial ethanol ablation for sporadic and non-hemorrhaging angiomyolipoma in the kidney

      Energy Technology Data Exchange (ETDEWEB)

      Takebayashi, Shigeo [Department of Radiology, Yokohama City University Medical Center, 4-57, Urafune-cho, Minami-ku, Yokohama 232-0024 (Japan)], E-mail: take2922@urahp.yokohama-cu.ac.jp; Horikawa, Ayumi; Arai, Mito; Iso, Shinichiroh [Department of Radiology, Yokohama City University Medical Center, 4-57, Urafune-cho, Minami-ku, Yokohama 232-0024 (Japan); Noguchi, Kazumi [Department of Urology, Yokohama City University Medical Center, Yokohama (Japan)

      2009-10-15

      Purpose: We evaluated the efficacy and side effects of transarterial ethanol ablation in sporadic and non-hemorrhaging angiomyolipomas (AMLs) in the kidney. Material and Methods: A total of 10 patients with solitary and sporadic AMLs underwent selective transarterial absolute ethanol ablation for prophylaxis against hemorrhage. We confirmed the ratio areas of tumor vessel on angiogram, those of infraction on post-ablation computed tomography (CT) and those of tumor reduction in a 3-, 6- and 12-month follow-up CT. Results: Once or twice a single infusion of 1 or 2 ml absolute ethanol achieved in a total occlusion of 22 feeding arteries which consisted of 7 proximal interlobar arteries, 12 distal interlobar arteries and 3 renal capsular arteries. Nontarget occlusion did not occur by ethanol reflux in any cases but occurred causing spasms provoked by repeated inflation and deflation of the balloon in one case. Total occlusion of tumor vessels was observed in 7 patients and 92-95% occlusion in 3. Ethanol ablation produced 1.8-22.5% (mean 8.4 {+-} 6.8%) areas of infarctions but the outcome was not serious in all cases. Mean percentage areas of tumor reduction were 29.4 {+-} 10.6% in a 3-month follow-up, 45.7 {+-} 11.9% in a 6-month and 59.3 {+-} 11.5% in a 12-month follow-up. Conclusions: Absolute ethanol ablation for sporadic and non-hemorrhaging AML is safe and effective in reducing majority of tumor area in a 1-year follow-up.

    17. Prevalence of mitochondrial DNA mutations in sporadic patients with nonsyndromic sensorineural hearing loss.

      Science.gov (United States)

      Jiang, Hua; Chen, Jia; Li, Ying; Lin, Peng-Fang; He, Jian-Guo; Yang, Bei-Bei

      2016-01-01

      Several mitochondrial DNA mutations have been reported to be associated with nonsyndromic hearing loss in several families. However, little is known about the prevalence of these mutations in sporadic patients with nonsyndromic sensorineural hearing loss. The purpose of our study was to investigate the incidence of these mitochondrial DNA mutations in such population. A total of 178 sporadic patients with nonsyndromic sensorineural hearing loss were enrolled in this study. Genomic DNA was extracted from the peripheral blood sample. We employed the SNaPshot(®) sequencing method to detect five mitochondrial DNA mutations, including A1555G and A827G in 12S rRNA gene and A7445G, 7472insC, and T7511C in tRNA(Ser(UCN)) gene. Meanwhile, we used polymerase chain reaction and sequenced the products to screen GJB2 gene mutations in patients carrying mitochondrial DNA mutations. We failed to detect the presence of A1555G mutation in 12S rRNA gene, and of A7445G, 7472insC, T7511C mutations in tRNA(Ser(UCN)) gene in our population. However, we found that 6 patients (3.37%) were carriers of a homozygous A827G mutation and one of them also carried homozygous GJB2 235delC mutation. Our findings in the present study indicate that even in sporadic patients with nonsyndromic sensorineural hearing loss, mitochondrial DNA mutations might also contribute to the clinical phenotype. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

    18. Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.

      Directory of Open Access Journals (Sweden)

      Ulrike Esslinger

      Full Text Available Dilated cardiomyopathy (DCM is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS to assess the contribution of missense variants to sporadic DCM.116,855 single nucleotide variants (SNVs were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0.01. The lead-SNVs at novel loci are common and located in TTN, SLC39A8, MLIP, FLNC, ALPK3 and FHOD3. In silico fine mapping identified HSPB7 as the most likely candidate at the ZBTB17 locus. Rare variant analysis (MAF<0.01 demonstrated significant association for TTN variants only (P = 0.0085. All candidate genes but one (SLC39A8 exhibit preferential expression in striated muscle tissues and mutations in TTN, BAG3, FLNC and FHOD3 are known to cause familial cardiomyopathy. We also investigated a panel of 48 known cardiomyopathy genes. Collectively, rare (n = 228, P = 0.0033 or common (n = 36, P = 0.019 variants with elevated in silico severity scores were associated with DCM, indicating that the spectrum of genes contributing to sporadic DCM extends beyond those identified here.We identified eight loci independently associated with sporadic DCM. The functions of the best candidate genes at these loci suggest that proteostasis regulation might play a role in DCM pathophysiology.

    19. Comparative analysis of copy number variations in ulcerative colitis associated and sporadic colorectal neoplasia

      International Nuclear Information System (INIS)

      Shivakumar, B. M.; Chakrabarty, Sanjiban; Rotti, Harish; Seenappa, Venu; Rao, Lakshmi; Geetha, Vasudevan; Tantry, B. V.; Kini, Hema; Dharamsi, Rajesh; Pai, C. Ganesh; Satyamoorthy, Kapaettu

      2016-01-01

      The incidence of and mortality from colorectal cancers (CRC) can be reduced by early detection. Currently there is a lack of established markers to detect early neoplastic changes. We aimed to identify the copy number variations (CNVs) and the associated genes which could be potential markers for the detection of neoplasia in both ulcerative colitis-associated neoplasia (UC-CRN) and sporadic colorectal neoplasia (S-CRN). We employed array comparative genome hybridization (aCGH) to identify CNVs in tissue samples of UC nonprogressor, progressor and sporadic CRC. Select genes within these CNV regions as a panel of markers were validated using quantitative real time PCR (qRT-PCR) method along with the microsatellite instability (MSI) in an independent cohort of samples. Immunohistochemistry (IHC) analysis was also performed. Integrated analysis showed 10 overlapping CNV regions between UC-Progressor and S-CRN, with the 8q and 12p regions showing greater overlap. The qRT-PCR based panel of MYC, MYCN, CCND1, CCND2, EGFR and FNDC3A was successful in detecting neoplasia with an overall accuracy of 54 % in S-CRN compared to that of 29 % in UC neoplastic samples. IHC study showed that p53 and CCND1 were significantly overexpressed with an increasing frequency from pre-neoplastic to neoplastic stages. EGFR and AMACR were expressed only in the neoplastic conditions. CNVs that are common and unique to both UC-associated and sporadic colorectal neoplasm could be the key players driving carcinogenesis. Comparative analysis of CNVs provides testable driver aberrations but needs further evaluation in larger cohorts of samples. These markers may help in developing more effective neoplasia-detection strategies during screening and surveillance programs. The online version of this article (doi:10.1186/s12885-016-2303-4) contains supplementary material, which is available to authorized users

    20. Seasonal variability and descent of mid-latitude sporadic E layers at Arecibo

      Directory of Open Access Journals (Sweden)

      N. Christakis

      2009-03-01

      Full Text Available Sporadic E layers (Es follow regular daily patterns in variability and altitude descent, which are determined primarily by the vertical tidal wind shears in the lower thermosphere. In the present study a large set of sporadic E layer incoherent scatter radar (ISR measurements are analyzed. These were made at Arecibo (Geog. Lat. ~18° N; Magnetic Dip ~50° over many years with ISR runs lasting from several hours to several days, covering evenly all seasons. A new methodology is applied, in which both weak and strong layers are clearly traced by using the vertical electron density gradient as a function of altitude and time. Taking a time base equal to the 24-h local day, statistics were obtained on the seasonal behavior of the diurnal and semidiurnal tidal variability and altitude descent patterns of sporadic E at Arecibo. The diurnal tide, most likely the S(1,1 tide with a vertical wavelength around 25 km, controls fully the formation and descent of the metallic Es layers at low altitudes below 110 km. At higher altitudes, there are two prevailing layers formed presumably by vertical wind shears associated mainly with semidiurnal tides. These include: 1 a daytime layer starting at ~130 km around midday and descending down to 105 km by local midnight, and 2 a less frequent and weaker nighttime layer which starts prior to midnight at ~130 km, descending downwards at somewhat faster rate to reach 110 km by sunrise. The diurnal and semidiurnal-like pattern prevails, with some differences, in all seasons. The differences in occurrence, strength and descending speeds between the daytime and nighttime upper layers are not well understood from the present data alone and require further study.

    1. Searching for possible effects on midlatitude sporadic E layer, caused by tropospheric lightning.

      Science.gov (United States)

      Barta, Veronika; Haldoupis, Christos; Sátori, Gabriella; Buresova, Dalia

      2016-07-01

      Thunderstorms in the troposphere may affect the overlying ionosphere through electrodynamic and/or neutral atmosphere wave coupling processes. For example, it is well known that lightning discharges may impact upper atmosphere through quasi-electrostatic fields and strong electromagnetic pulses, leading to transient luminous phenomena, such as sprites and elves, along with electron heating and ionization changes in the upper D and lower E-region ionosphere that have been detected in VLF transmissions propagating in the earth-ionosphere waveguide. On the other hand, mechanical coupling between the troposphere and the ionosphere may be caused by neutral atmosphere gravity waves which are known to have their origin in massive thunderstorms. The effects of troposphere-ionosphere coupling during thunderstorms, are not yet fully established and understood, therefore there is need for more correlative studies, for example by using concurrent ionospheric and lightning observations. In the present work an effort is made to investigate a possible relationship between tropospheric lighting and sporadic E layer, which are known to dominate at bottomside ionosphere and at middle latitudes during summer. For this, a correlative analysis was undertaken using lightning data obtained with the LINET lightning detection network in Central Europe, and E region ionospheric parameters (fmin, foE, foEs, fbEs) measured with the Pruhonice (50° N, 14.5° E) DPS-4D digisonde in the summer of 2009. For direct correlation with the digisonde data, the lightning activity was quantified every 15 minutes in coincidence with the measured ionogram parameters. In the search for relation between lightning and sporadic E, the digisonde observations during lightning were also compared with those taken during a number of tropospheric storm-free days in Pruhonice. The results of this correlative study did not provide evidence of significance that favors a relationship between tropospheric lightning and

    2. Respuesta de cultivares de patata a la salinidad y potencial efecto protector del metil jasmonato frente al estrés salino

      OpenAIRE

      Rodríguez Buitrón, Ricardo

      2014-01-01

      En aquesta Tesi Doctoral es van caracteritzar in vitro quatre cultivars de patata amb diferent cicle de maduració, Agata, Monalisa, Kennebec i Red Pontiac en base al desenvolupament vegetatiu i radical dels explants. L’efecte del MeJa es va avaluar en base al desenvolupament vegetatiu i radical dels explants exposats a 0,10, 50, 250 i 1250 nM de MeJa. La tolerància a l’estrès salí es va avaluar en base al desenvolupament vegetatiu i radical dels explants dels quatre cultivars exposats a 0, 30...

    3. The diagnostic efficiency of biomarkers in sporadic Creutzfeldt-Jakob disease compared to Alzheimer's disease

      DEFF Research Database (Denmark)

      Bahl, J.M.; Heegaard, N.H.; Falkenhorst, G.

      2009-01-01

      Laboratory markers have a prominent place among the diagnostic criteria for sporadic Creutzfeldt-Jakob disease (sCJD). Here we investigate the capability of protein 14-3-3, total-tau (t-tau), threonin-181-phosphorylated tau (p-tau), and neuron-specific enolase (NSE) in cerebrospinal fluid (CSF......) together with the prion protein gene genotype to discriminate patients with sCJD (n=21) from neurological controls (n=164) and Alzheimer's disease (AD) patients (n=49). Low p-tau/t-tau ratio was the best single marker for sCJD with 90% specificity against neurological controls at 86% sensitivity whilst NSE...

    4. Analysis of wave-like oscillations in parameters of sporadic E layer and neutral atmosphere

      Czech Academy of Sciences Publication Activity Database

      Mošna, Zbyšek; Koucká Knížová, Petra

      90-91, SI (2012), s. 172-178 ISSN 1364-6826. [IAGA/ICMA/CAWSES-II TG4 Workshop on Vertical Coupling in the Atmosphere-Ionosphere System /4./. Prague, 14.02.2011-18.02.2011] R&D Projects: GA AV ČR IAA300420704 Institutional support: RVO:68378289 Keywords : Sporadic E * Planetary waves * Tidal waves * Mid-latitude ionosphere Subject RIV: DG - Athmosphere Sciences, Meteorology Impact factor: 1.417, year: 2012 http://www.sciencedirect.com/science/article/pii/S1364682612001186

    5. HAEMOPHILUS INFLUENZAE INFECTION IN CHILDREN DURING SPORADIC MORBIDITY: CLINICAL CASES WITH DIFFERENT (FAVORABLE OR FATAL OUTCOMES

      Directory of Open Access Journals (Sweden)

      Gennadii A. Kharchenko

      2017-01-01

      Full Text Available Haemophilus influenzae infection in children is detected as sporadic cases and is characterized by polymorphism of clinical symptoms (rhinopharyngitis, purulent meningitis, acute epiglottitis, panniculitis, etc., which complicates an early diagnosis and treatment of this pathology. In young children, Haemophilus influenzae infection (type b often occurs in generalized forms and may result in death. The article presents  literature data and the results of own clinical observations  of Haemophilus influenzae cases that occurred with an aspect of purulent meningitis and panniculitis in young children. The tactics of a complex therapy and ways to prevent Haemophilus in fluenzae infection are discussed.

    6. Searching for effects caused by thunderstorms in midlatitude sporadic E layers

      Czech Academy of Sciences Publication Activity Database

      Barta, V.; Haldoupis, C.; Sátori, G.; Burešová, Dalia; Chum, Jaroslav; Pozoga, M.; Berényi, K. A.; Bór, J.; Popek, Martin; Kis, Á.; Bencze, P.

      2017-01-01

      Roč. 161, August (2017), s. 150-159 ISSN 1364-6826 R&D Projects: GA ČR(CZ) GC15-07281J; GA ČR(CZ) GAP209/12/2440; GA ČR(CZ) GA14-31899S Institutional support: RVO:68378289 Keywords : atmospheric gravity waves * ionosphere coupling * lightning * sporadic E layer * sprites * thunderstorm Subject RIV: DG - Athmosphere Sciences, Meteorology OBOR OECD: Meteorology and atmospheric sciences Impact factor: 1.326, year: 2016 https://arxiv.org/abs/1708.00270

    7. Congenital terminal transverse deformity of upper limb: clinical and radiological findings in a sporadic care.

      Science.gov (United States)

      Malik, Sajid; Afzal, Muhammad

      2013-03-01

      Congenital transverse limb anomalies are rare, which affect upper and/or lower limbs and may accompany several syndromic malformations. We present a sporadic male subject with congenital, unilateral transverse arrest of the left hand. The affected arm was observed to be short with reduced zeugopod and truncated palm. Fingers were represented by five bead-like nubbins. Roentgenographic examination revealed short radius and ulna with hypoplastic distal heads, absent carpals/metacarpals, and a hypoplastic bony island in each nubbin. Consanguinity was denied, and the subject had no symptoms in the orofacial, neurological and skeletal systems. Detailed clinical data with literature survey is presented.

    8. The diagnostic efficiency of biomarkers in sporadic Creutzfeldt-Jakob disease compared to Alzheimer's disease

      DEFF Research Database (Denmark)

      Bahl, Justyna Maria Czarna; Heegaard, Niels Henrik Helweg; Falkenhorst, Gerhard

      2009-01-01

      ) together with the prion protein gene genotype to discriminate patients with sCJD (n=21) from neurological controls (n=164) and Alzheimer's disease (AD) patients (n=49). Low p-tau/t-tau ratio was the best single marker for sCJD with 90% specificity against neurological controls at 86% sensitivity whilst NSE......Laboratory markers have a prominent place among the diagnostic criteria for sporadic Creutzfeldt-Jakob disease (sCJD). Here we investigate the capability of protein 14-3-3, total-tau (t-tau), threonin-181-phosphorylated tau (p-tau), and neuron-specific enolase (NSE) in cerebrospinal fluid (CSF...

    9. Sporadic and genetic forms of paediatric somatotropinoma: a retrospective analysis of seven cases and a review of the literature

      Directory of Open Access Journals (Sweden)

      Nozières Cécile

      2011-10-01

      Full Text Available Abstract Background Somatotropinoma, a pituitary adenoma characterised by excessive production of growth hormone (GH, is extremely rare in childhood. A genetic defect is evident in some cases; known genetic changes include: multiple endocrine neoplasia type 1 (MEN1; Carney complex; McCune-Albright syndrome; and, more recently identified, aryl hydrocarbon receptor-interacting protein (AIP. We describe seven children with somatotropinoma with a special focus on the differences between genetic and sporadic forms. Methods Seven children who presented in our regional network between 1992 and 2008 were included in this retrospective analysis. First-type therapy was somatostatin (SMS analogues or transsphenoidal surgery. Control was defined as when insulin-like growth factor-1 (IGF-1 levels were within the normal range for the patient's age at 6 months after therapy, associated with decreasing tumour volume. Results Patients were aged 5-17 years and the majority (n = 6 were male. Four patients had an identified genetic mutation (McCune-Albright syndrome: n = 1; MEN1: n = 1; AIP: n = 2; the remaining three cases were sporadic. Accelerated growth rate was reported as the first clinical sign in four patients. Five patients presented with macroadenoma; invasion was noted in four of them (sporadic: n = 1; genetic: n = 3. Six patients were treated with SMS analogues; normalisation of IGF-1 occurred in one patient who had a sporadic intrasellar macroadenoma. Multiple types of therapy were necessary in all patients with an identified genetic mutation (4 types: n = 1; 3 types: n = 2; 2 types: n = 1, whereas two of the three patients with sporadic somatotropinoma required only one type of therapy. Conclusions This is the first series that analyzes the therapeutic response of somatotropinoma in paediatric patients with identified genetic defects. We found that, in children, genetic somatotropinomas are more invasive than sporadic somatotropinomas. Furthermore

    10. AL Amyloidosis

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      Desport Estelle

      2012-08-01

      Full Text Available Abstract Definition of the disease AL amyloidosis results from extra-cellular deposition of fibril-forming monoclonal immunoglobulin (Ig light chains (LC (most commonly of lambda isotype usually secreted by a small plasma cell clone. Most patients have evidence of isolated monoclonal gammopathy or smoldering myeloma, and the occurrence of AL amyloidosis in patients with symptomatic multiple myeloma or other B-cell lymphoproliferative disorders is unusual. The key event in the development of AL amyloidosis is the change in the secondary or tertiary structure of an abnormal monoclonal LC, which results in instable conformation. This conformational change is responsible for abnormal folding of the LC, rich in β leaves, which assemble into monomers that stack together to form amyloid fibrils. Epidemiology AL amyloidosis is the most common type of systemic amyloidois in developed countries with an estimated incidence of 9 cases/million inhabitant/year. The average age of diagnosed patients is 65 years and less than 10% of patients are under 50. Clinical description The clinical presentation is protean, because of the wide number of tissues or organs that may be affected. The most common presenting symptoms are asthenia and dyspnoea, which are poorly specific and may account for delayed diagnosis. Renal manifestations are the most frequent, affecting two thirds of patients at presentation. They are characterized by heavy proteinuria, with nephrotic syndrome and impaired renal function in half of the patients. Heart involvement, which is present at diagnosis in more than 50% of patients, leading to restrictive cardiopathy, is the most serious complication and engages prognosis. Diagnostic methods The diagnosis relies on pathological examination of an involved site showing Congo red-positive amyloid deposits, with typical apple-green birefringence under polarized light, that stain positive with an anti-LC antibody by immunohistochemistry and

    11. Otistik Çocuklar İçin Davranışsal Eğitim Programı (OÇİDEP Ev Uygulamasının Bir Çocukla İncelenmesi

      Directory of Open Access Journals (Sweden)

      Yeşim Güleç-Aslan

      2009-01-01

      Full Text Available Yoğun davranışsal eğitim, otizm tanılı çocuklar üzerindeki etkileri bilimsel araştırma bulgularıyla desteklenmiş bir uygulamadır. Otistik Çocuklar için Davranışsal Eğitim Programı (OÇİDEP Türkiye’de bu tür eğitim sunmak üzere geliştirilen öncü programlar arasında yer almaktadır. Bu araştırmada OÇİDEP ev uygulamasının bir çocukla yürütülme süreci incelenmiştir. Araştırma, program uygulama sürecinin incelenmesi amacıyla yürütülen, nicel veri toplama ve analiz tekniklerini de içeren bir nitel araştırmadır. Araştırmanın katılımcısı dokuz yaşında, otizm tanılı bir erkek çocuktur. Bulgular; (a OÇİDEP ev uygulamasının planlama aşamasında belirlenen genel ilkelerde değişiklikler ya da uyarlamalar yapılarak yürütülebildiğini, (b uygulama boyunca çeşitli davranış ve öğretim sorunları yaşandığını ve bu sorunlara yönelik uygun önlemler alınarak yürütmenin sürdürüldüğünü, (c uygulama süresince OÇİDEP ekip üyelerinin bilgi ve becerilerinde artışlar olduğunu, (d OÇİDEP ev uygulaması katılımcısında program içinde ve dışında çeşitli gelişmeler görüldüğünü, (e ekip üyelerinin ve ailenin OÇİDEP’in çocukların gelişimine önemli katkılarda bulunan, ancak, belirli unsurlara dikkat edilerek uygulanması gereken bir program olduğu yönünde görüşleri olduğunu göstermiştir. Intensive Behavioral Intervention (IBI is an evidence-based practice for children with autism. Intensive Behavioral Home Intervention Program called OCIDEP is one of the first IBI-type programs in Turkey. The purpose of the present study was to investigate the implementation process of the OCIDEP home program with one nine-years- old boy with autism. During the study both qualitative and quantitative data collection and analysis methods were systematically utilized on a regular basis. Findings of the study were as follows: (a some of the guidelines did not

    12. Sporadic-E associated with the Leonid meteor shower event of November 1998 over low and equatorial latitudes

      Directory of Open Access Journals (Sweden)

      H. Chandra

      2001-01-01

      Full Text Available Rapid radio soundings were made over Ahmedabad, a low latitude station during the period 16–20 November 1998 to study the sporadic-E layer associated with the Leonid shower activity using the KEL Aerospace digital ionosonde. Hourly ionograms for the period 11 November to 24 November were also examined during the years from 1994 to 1998. A distinct increase in sporadic-E layer occurrence is noticed on 17, 18 and 19 November from 1996 to 1998. The diurnal variations  of  f0Es and fbEs also show significantly enhanced values for the morning hours of 18 and 19 November 1998. The ionograms clearly show strong sporadic-E reflections at times of peak shower activity with multiple traces in the altitude range of 100–140 km in few ionograms. Sporadic-E layers with multiple structures in altitude are also seen in some of the ionograms (quarter hourly at Thumba, situated near the magnetic equator. Few of ionograms recorded at Kodaikanal, another equatorial station, also show sporadic- E reflections in spite of the transmitter power being significantly lower. These new results highlighting the effect of intense meteor showers in the equatorial and low latitude E-region are presented.Key words. Ionosphere (equatorial ionosphere – Radio science (ionospheric physics

    13. Sporadic-E associated with the Leonid meteor shower event of November 1998 over low and equatorial latitudes

      Directory of Open Access Journals (Sweden)

      H. Chandra

      Full Text Available Rapid radio soundings were made over Ahmedabad, a low latitude station during the period 16–20 November 1998 to study the sporadic-E layer associated with the Leonid shower activity using the KEL Aerospace digital ionosonde. Hourly ionograms for the period 11 November to 24 November were also examined during the years from 1994 to 1998. A distinct increase in sporadic-E layer occurrence is noticed on 17, 18 and 19 November from 1996 to 1998. The diurnal variations 
      of  f0Es and fbEs also show significantly enhanced values for the morning hours of 18 and 19 November 1998. The ionograms clearly show strong sporadic-E reflections at times of peak shower activity with multiple traces in the altitude range of 100–140 km in few ionograms. Sporadic-E layers with multiple structures in altitude are also seen in some of the ionograms (quarter hourly at Thumba, situated near the magnetic equator. Few of ionograms recorded at Kodaikanal, another equatorial station, also show sporadic- E reflections in spite of the transmitter power being significantly lower. These new results highlighting the effect of intense meteor showers in the equatorial and low latitude E-region are presented.

      Key words. Ionosphere (equatorial ionosphere – Radio science (ionospheric physics

    14. Advanced atherosclerosis is associated with increased medial degeneration in sporadic ascending aortic aneurysms.

      Science.gov (United States)

      Albini, Paul T; Segura, Ana Maria; Liu, Guanghui; Minard, Charles G; Coselli, Joseph S; Milewicz, Dianna M; Shen, Ying H; LeMaire, Scott A

      2014-02-01

      The pathogenesis of non-familial, sporadic ascending aortic aneurysms (SAAA) is poorly understood, and the relationship between ascending aortic atherosclerosis and medial degeneration is unclear. We evaluated the prevalence and severity of aortic atherosclerosis and its association with medial degeneration in SAAA. Atherosclerosis was characterized in ascending aortic tissues collected from 68 SAAA patients (mean age, 62.9 ± 12.0 years) and 15 controls (mean age, 56.6 ± 11.4 years [P = 0.07]) by using a modified American Heart Association classification system. Upon histologic examination, 97% of SAAA patients and 73% of controls showed atherosclerotic changes. Most SAAA samples had intermediate (types 2 and 3, 35%) or advanced atherosclerosis (types ≥ 4; 40%), whereas most control samples showed minimal atherosclerosis (none or type 1, 80%; P atherosclerosis grade. Advanced atherosclerosis was associated with higher grades of smooth muscle cell depletion (P atherosclerosis than in patients with minimal (P = 0.04) or intermediate atherosclerosis (P = 0.04). Immunostaining showed marked CD3+ T-cell and CD68+ macrophage infiltration, MMP-2 and MMP-9 production, and cryopyrin expression in the medial layer adjacent to atherosclerotic plaque. SAAA tissues exhibited advanced atherosclerosis that was associated with severe medial degeneration and increased aortic diameter. Our findings suggest a role for atherosclerosis in the progression of sporadic ascending aortic aneurysms. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

    15. The ‘Pokemon’ (ZBTB7) Gene: No Evidence of Association with Sporadic Breast Cancer

      Science.gov (United States)

      Salas, Antonio; Vega, Ana; Milne, Roger L.; García-Magariños, Manuel; Ruibal, Álvaro; Benítez, Javier; Carracedo, Ángel

      2008-01-01

      It has been proposed that the excess of familiar risk associated with breast cancer could be explained by the cumulative effect of multiple weakly predisposing alleles. The transcriptional repressor FBI1, also known as Pokemon, has recently been identified as a critical factor in oncogenesis. This protein is encoded by the ZBTB7 gene. Here we aimed to determine whether polymorphisms in ZBTB7 are associated with breast cancer risk in a sample of cases and controls collected in hospitals from North and Central Spanish patients. We genotyped 15 SNPs in ZBTB7, including the flanking regions, with an average coverage of 1 SNP/2.4 Kb, in 360 sporadic breast cancer cases and 402 controls. Comparison of allele, genotype and haplotype frequencies between cases and controls did not reveal associations using Pearson’s chi-square test and a permutation procedure to correct for multiple test. In this, the first study of the ZBTB7 gene in relation to, sporadic breast cancer, we found no evidence of an association. PMID:21892298

    16. Are there tumor suppressor genes on chromosome 4p in sporadic colorectal carcinoma?

      Science.gov (United States)

      Zheng, Hai-Tao; Jiang, Li-Xin; Lv, Zhong-Chuan; Li, Da-Peng; Zhou, Chong-Zhi; Gao, Jian-Jun; He, Lin; Peng, Zhi-Hai

      2008-01-07

      To study the candidate tumor suppressor genes (TSG) on chromosome 4p by detecting the high frequency of loss of heterozygosity (LOH) in sporadic colorectal carcinoma in Chinese patients. Seven fluorescent labeled polymorphic microsatellite markers were analyzed in 83 cases of colorectal carcinoma and matched normal tissue DNA by PCR. PCR products were electrophoresed on an ABI 377 DNA sequencer. Genescan 3.7 and Genotype 3.7 software were used for LOH scanning and analysis. The same procedure was performed by the other six microsatellite markers spanning D4S3013 locus to make further detailed deletion mapping. Comparison between LOH frequency and clinicopathological factors was performed by c2 test. Data were collected from all informative loci. The average LOH frequency on 4p was 24.25%, and 42.3% and 35.62% on D4S405 and D4S3013 locus, respectively. Adjacent markers of D4S3013 displayed a low LOH frequency (4p15.2) and D4S405 (4p14) locus are detected. Candidate TSG, which is involved in carcinogenesis and progression of sporadic colorectal carcinoma on chromosome 4p, may be located between D4S3017 and D4S2933 (about 1.7 cm).

    17. Unconsidered sporadic sources of carbon dioxide emission from soils in taiga forests.

      Science.gov (United States)

      Karelin, D V; Zamolodchikov, D G; Isaev, A S

      2017-07-01

      Long-term monitoring in the Russian taiga zone has shown that all known extreme destructive effects resulting in the weakening and death of tree stands (windfalls, pest attacks, drought events, etc.) can be sporadic, but significant sources of CO 2 soil emission. Among them are (i) a recently found effect of the multiyear CO 2 emission from soil at the bottom of deadwood of spruce trees that died due to climate warming and subsequent pest outbreaks, (ii) increased soil CO 2 emissions due to to the fall of tree trunks during massive windfalls, and (iii) pulse CO 2 emission as a result of the so-called Birch effect after drought events in the taiga zone. According to the modeling, while depending on the spatial and temporal scales of their manifestation, the impact of these sporadic effects on the regional and global soil respiration fluxes could be significant and should be taken into consideration. This is due to continuing Climate Change, and further increase of local, regional and Global human impacts on the atmospheric greenhouse gases balance, and land use, as well.

    18. Hierarchical imputation of systematically and sporadically missing data: An approximate Bayesian approach using chained equations.

      Science.gov (United States)

      Jolani, Shahab

      2018-03-01

      In health and medical sciences, multiple imputation (MI) is now becoming popular to obtain valid inferences in the presence of missing data. However, MI of clustered data such as multicenter studies and individual participant data meta-analysis requires advanced imputation routines that preserve the hierarchical structure of data. In clustered data, a specific challenge is the presence of systematically missing data, when a variable is completely missing in some clusters, and sporadically missing data, when it is partly missing in some clusters. Unfortunately, little is known about how to perform MI when both types of missing data occur simultaneously. We develop a new class of hierarchical imputation approach based on chained equations methodology that simultaneously imputes systematically and sporadically missing data while allowing for arbitrary patterns of missingness among them. Here, we use a random effect imputation model and adopt a simplification over fully Bayesian techniques such as Gibbs sampler to directly obtain draws of parameters within each step of the chained equations. We justify through theoretical arguments and extensive simulation studies that the proposed imputation methodology has good statistical properties in terms of bias and coverage rates of parameter estimates. An illustration is given in a case study with eight individual participant datasets. © 2017 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

    19. Gene expression profiles of sporadic canine hemangiosarcoma are uniquely associated with breed.

      Directory of Open Access Journals (Sweden)

      Beth A Tamburini

      2009-05-01

      Full Text Available The role an individual's genetic background plays on phenotype and biological behavior of sporadic tumors remains incompletely understood. We showed previously that lymphomas from Golden Retrievers harbor defined, recurrent chromosomal aberrations that occur less frequently in lymphomas from other dog breeds, suggesting spontaneous canine tumors provide suitable models to define how heritable traits influence cancer genotypes. Here, we report a complementary approach using gene expression profiling in a naturally occurring endothelial sarcoma of dogs (hemangiosarcoma. Naturally occurring hemangiosarcomas of Golden Retrievers clustered separately from those of non-Golden Retrievers, with contributions from transcription factors, survival factors, and from pro-inflammatory and angiogenic genes, and which were exclusively present in hemangiosarcoma and not in other tumors or normal cells (i.e., they were not due simply to variation in these genes among breeds. Vascular Endothelial Growth Factor Receptor 1 (VEGFR1 was among genes preferentially enriched within known pathways derived from gene set enrichment analysis when characterizing tumors from Golden Retrievers versus other breeds. Heightened VEGFR1 expression in these tumors also was apparent at the protein level and targeted inhibition of VEGFR1 increased proliferation of hemangiosarcoma cells derived from tumors of Golden Retrievers, but not from other breeds. Our results suggest heritable factors mold gene expression phenotypes, and consequently biological behavior in sporadic, naturally occurring tumors.

    20. Prognostic impact of changes in base excision repair machinery in sporadic colorectal cancer.

      Science.gov (United States)

      Azambuja, Daniel B; Leguisamo, Natalia M; Gloria, Helena C; Kalil, Antonio Nocchi; Rhoden, Ernani; Saffi, Jenifer

      2018-01-01

      to evaluate the prognostic value of base excision repair proteins in sporadic colorectal cancer. Pre-treatment tumor samples from 72 patients with sporadic colorectal adenocarcinoma were assessed for APC, MPG, Polβ, XRCC1 and Fen1 expression by immunohistochemistry. The associations of molecular data were analyzed in relation to clinical features and TNM staging as a prognosis predictor and disease-free survival. Higher levels of MPG, Polβ and XRCC1, but not Fen1, were associated with unfavorable pathological outcomes, such as poor cellular differentiation, advanced TNM stages, presence of lymphatic and perineural invasions and metastatic lymph nodes. MPG and Polβ overexpression were associated with right-sided CRC. However, only MPG high expression is associated with shorter disease-free survival in CRC patients. Our results suggest that increased expression of MPG, Polβ and XRCC1 are more likely to evolve to poor pathological outcomes, but only the elevated expression of MPG protein predicts recurrence. The BER proteins appear to be suitable candidates to refine the TNM current staging of colorectal cancer. Copyright © 2017 Elsevier GmbH. All rights reserved.

    1. Gene Expression Profiles of Sporadic Canine Hemangiosarcoma Are Uniquely Associated with Breed

      Science.gov (United States)

      Tamburini, Beth A.; Trapp, Susan; Phang, Tzu Lip; Schappa, Jill T.; Hunter, Lawrence E.; Modiano, Jaime F.

      2009-01-01

      The role an individual's genetic background plays on phenotype and biological behavior of sporadic tumors remains incompletely understood. We showed previously that lymphomas from Golden Retrievers harbor defined, recurrent chromosomal aberrations that occur less frequently in lymphomas from other dog breeds, suggesting spontaneous canine tumors provide suitable models to define how heritable traits influence cancer genotypes. Here, we report a complementary approach using gene expression profiling in a naturally occurring endothelial sarcoma of dogs (hemangiosarcoma). Naturally occurring hemangiosarcomas of Golden Retrievers clustered separately from those of non-Golden Retrievers, with contributions from transcription factors, survival factors, and from pro-inflammatory and angiogenic genes, and which were exclusively present in hemangiosarcoma and not in other tumors or normal cells (i.e., they were not due simply to variation in these genes among breeds). Vascular Endothelial Growth Factor Receptor 1 (VEGFR1) was among genes preferentially enriched within known pathways derived from gene set enrichment analysis when characterizing tumors from Golden Retrievers versus other breeds. Heightened VEGFR1 expression in these tumors also was apparent at the protein level and targeted inhibition of VEGFR1 increased proliferation of hemangiosarcoma cells derived from tumors of Golden Retrievers, but not from other breeds. Our results suggest heritable factors mold gene expression phenotypes, and consequently biological behavior in sporadic, naturally occurring tumors. PMID:19461996

    2. The 2-min walk test is sufficient for evaluating walking abilities in sporadic inclusion body myositis.

      Science.gov (United States)

      Alfano, L N; Lowes, L P; Dvorchik, I; Yin, H; Maus, E G; Flanigan, K M; Mendell, J R

      2014-03-01

      Sporadic inclusion body myositis causes progressive functional loss due to declining muscle strength. Although the underlying cause is unknown, clinical trials are underway to improve strength and function. Selection of appropriate outcome measures is critical for the success of these trials. The 6-min walk test has been the de facto standard for assessing function in neuromuscular disease; however, the optimal walking test has not been determined in this disease. In this study, 67 individuals with sporadic inclusion body myositis completed a battery of quantitative strength and functional tests including timed walking tests, patient-reported outcomes, and other tasks. The 2-min and 6-min walk tests are highly correlated to each other (r=0.97, pwalk test, but 7% of subjects were unable to walk the full 6-min of the 6-min walk test due to fatigue. The 2-min walk test demonstrates similar correlation to all outcomes compared to the 6-min walk test, is less fatiguing and better tolerated. Results suggest that the 2-min walk test is a better alternative to tests of longer duration. Further research is needed to determine longitudinal changes on this outcome. Copyright © 2013 Elsevier B.V. All rights reserved.

    3. Temporal evolution of the HF-enhanced plasma line in sporadic E

      International Nuclear Information System (INIS)

      Djuth, F.T.; Gonzales, C.A.

      1988-01-01

      The high-power, high-frequency (HF) facility at Arecibo, Puerto Rico, has been used to study the excitation of Langmuir waves in mid-latitude sporadic E. Measurements of the temporal evolution of so-called HF-enhanced plasma line (HFPL) were made using the Arecibo 430-MHz radar. After HF turn-on in the plasma the HFPL exhibits a rapid growth phase followed by a quick overshoot. During periods of strong HFPL excitation the e-folding growth time of the HFPL power is typically approx-lt 20 μs, and the total overshoot period is ∼1 ms. On the basis of the current observations, mode conversion of the HF wave into Langmuir waves near HF reflection appears to be a promising mechanism for the production of Langmuir waves in sporadic E. Caviton formation at the critical layer is expected to accompany this process, and there is some evidence that the 430-MHz radar is probing the plasma in a region where density cavities of this nature form. While no specific explanation is offered for the HFPL overshoot, it appears that this phenomenon is fundamental to the Langmuir wave excitation process

    4. [Microsatellite alterations on chromosome 9p21-22 in sporadic colorectal cancer].

      Science.gov (United States)

      Zhang, Y; Lai, M

      1999-12-01

      To study whether alteration of p16 plays an important role in the development of colorectal carcinomas and the relationship between the molecular changes of 9p21-22 chromosome subregion in sporadic colorectal cancers. To detect microsatellite instability (MSI) and loss of heterozygosity (LOH) by PCR, denatured-polyacrylamide gel-electrophoresis and silver staining (microsatellite DNA-PCR-silver staining method) and to compare the results with the clinopathological parameters. Between MSI positive and negative cases and the clinopathological findings, some evidences found in the MSI positive group were as follows: (1) tendency towards younger patients (usually < 50 years in age, P < 0.05); (2) more frequently seen in mucoid carcinomas (P < 0.01). Microsatellite DNA-PCR-silver staining method is very sensitive in detecting even a tiny change of a single base. MSI occured in the selected microsatellite loci of different subregions and different chromosomes might be different in significance, therefore, a right choice of the suitable loci for studying the microsatellite changes is important. Since the frequency of loss of heterozygosity at 9p21-22 is low (merely 8.42%), it is considered that p16 is not closely associated with the development of sporadic colorectal cancer.

    5. Angiotensin converting enzyme insertion/deletion polymorphism in sporadic and familial Alzheimer's disease and longevity.

      Science.gov (United States)

      Nacmias, Benedetta; Bagnoli, Silvia; Tedde, Andrea; Cellini, Elena; Bessi, Valentina; Guarnieri, Biancamaria; Ortensi, Luigi; Piacentini, Silvia; Bracco, Laura; Sorbi, Sandro

      2007-01-01

      A recent, large meta-analysis has reproposed the role of the angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism as a risk factor for Alzheimer's disease (AD). To further investigate the proposed association and to better clarify the role of ACE as a risk factor for AD, we analyzed the genotype and allele frequency distribution of ACE I/D and apolipoprotein E (APOE) gene polymorphisms in 235 Italian patients with sporadic AD, 153 with familial AD (FAD), 192 healthy controls and 111 centenarians. Patients with AD were consecutively gathered from among the outpatients from the Neurology Department at the University of Florence. All 691 subjects were genotyped for ACE and APOE polymorphisms. There were no significant differences in ACE genotypes or allele frequencies in all the studied groups, even after stratification for APOE epsilon4 carrier status. Centenarians show the highest allele D frequency, although the value is not significant, thus suggesting a possible implication of the D allele as an epistatic allele that has pleiotropic age-dependent effects. In conclusion, our data suggest that the ACE allelic variant is not a susceptibility factor in sporadic and familial AD (FAD), nor does it mitigate the effect of the APOE epsilon4 allele in the risk of developing AD. Moreover, our data do not suggest a possible involvement of the D allele in longevity.

    6. Early detection of sporadic pancreatic cancer: strategic map for innovation--a white paper.

      Science.gov (United States)

      Kenner, Barbara J; Chari, Suresh T; Cleeter, Deborah F; Go, Vay Liang W

      2015-07-01

      Innovation leading to significant advances in research and subsequent translation to clinical practice is urgently necessary in early detection of sporadic pancreatic cancer. Addressing this need, the Early Detection of Sporadic Pancreatic Cancer Summit Conference was conducted by Kenner Family Research Fund in conjunction with the 2014 American Pancreatic Association and Japan Pancreas Society Meeting. International interdisciplinary scientific representatives engaged in strategic facilitated conversations based on distinct areas of inquiry: Case for Early Detection: Definitions, Detection, Survival, and Challenges; Biomarkers for Early Detection; Imaging; and Collaborative Studies. Ideas generated from the summit have led to the development of a Strategic Map for Innovation built upon 3 components: formation of an international collaborative effort, design of an actionable strategic plan, and implementation of operational standards, research priorities, and first-phase initiatives. Through invested and committed efforts of leading researchers and institutions, philanthropic partners, government agencies, and supportive business entities, this endeavor will change the future of the field and consequently the survival rate of those diagnosed with pancreatic cancer.

    7. Effect of sporadic destratification, seasonal overturn, and artificial mixing on CH4 emissions from a subtropical hydroelectric reservoir

      Science.gov (United States)

      Guérin, Frédéric; Deshmukh, Chandrashekhar; Labat, David; Pighini, Sylvie; Vongkhamsao, Axay; Guédant, Pierre; Rode, Wanidaporn; Godon, Arnaud; Chanudet, Vincent; Descloux, Stéphane; Serça, Dominique

      2016-06-01

      Inland waters in general and freshwater reservoirs specifically are recognized as a source of CH4 into the atmosphere. Although the diffusion at the air-water interface is the most studied pathway, its spatial and temporal variations are poorly documented. We measured temperature and O2 and CH4 concentrations every 2 weeks for 3.5 years at nine stations in a subtropical monomictic reservoir which was flooded in 2008 (Nam Theun 2 Reservoir, Lao PDR). Based on these results, we quantified CH4 storage in the water column and diffusive fluxes from June 2009 to December 2012. We compared diffusive emissions with ebullition from Deshmukh et al. (2014) and aerobic methane oxidation and downstream emissions from Deshmukh et al. (2016). In this monomictic reservoir, the seasonal variations of CH4 concentration and storage were highly dependent on the thermal stratification. Hypolimnic CH4 concentration and CH4 storage reached their maximum in the warm dry season (WD) when the reservoir was stratified. Concentration and storage decreased during the warm wet (WW) season and reached its minimum after the reservoir overturned in the cool dry (CD) season. The sharp decreases in CH4 storage were concomitant with extreme diffusive fluxes (up to 200 mmol m-2 d-1). These sporadic emissions occurred mostly in the inflow region in the WW season and during overturn in the CD season in the area of the reservoir that has the highest CH4 storage. Although they corresponded to less than 10 % of the observations, these extreme CH4 emissions (> 5 mmol m-2 d-1) contributed up to 50 % of total annual emissions by diffusion. During the transition between the WD and WW seasons, a new emission hotspot was identified upstream of the water intake where diffusive fluxes peaked at 600 mmol m-2 d-1 in 2010 down to 200 mmol m-2 d-1 in 2012. The hotspot was attributed to the mixing induced by the water intakes (artificial mixing). Emissions from this area contributed 15-25 % to total annual emissions

    8. Metode Penafsiran al-Shâfi‘î dalam Tafsîr al-Imâm al-Shâfi‘î

      Directory of Open Access Journals (Sweden)

      M. Masykur Abdillah

      2015-09-01

      Full Text Available In the Abbasid period, the understanding of the Koran is still fairly freely, each reader has its own way to understand it. Freedom in understanding the Koran is ultimately impressed the wild, especially for those who do not master language of Koran. Therefore, at that time the scholars took the initiative to make the rules in the understanding of the Koran. Al-Shâfi‘î began drafting rules neatly in the form of scientific discourse that ultimately became a reference for commentators to understand the Koran. With his expertise, al-Shâfi‘î interprets the verses of the Koran by some combination of the two methods of flow on the body of Muslims at that time. The second stream is the hadîth experts and the rational. Seeing the importance of the interpretation of al-Shâfi‘î, Islamic scholars vying to compile the results of the interpretation of al-Shâfi‘î spread sporadically in his works, so comes the book Ahkâm al-Qur’ân li al-Imâm al-Shâfi‘î created by Bayhaqî, Tafsîr al-Imâm al-Shâfi‘î created by al-Shaurî, and the Tafsîr al-Imâm al-Shâfi‘î created by al-Farran. This paper will explore the history of the Tafsîr al-Shâfi‘î, al-Shâfi‘î’s method of interpreting the Koran, and the characteristic that distinguishes it from the others commentators.

    9. Conocimientos, percepciones y comportamientos relacionados con el consumo de sal, la salud y el etiquetado nutricional en Argentina, Costa Rica y Ecuador Knowledge, perceptions, and behavior related to salt consumption, health, and nutritional labeling in Argentina, Costa Rica, and Ecuador

      Directory of Open Access Journals (Sweden)

      Germana Sánchez

      2012-10-01

      Full Text Available OBJETIVO: Identificar los conocimientos, percepciones y comportamientos relacionados con el consumo de la sal y el sodio alimentarios y su relación con la salud y el etiquetado nutricional de los alimentos, en tres países de la Región. MÉTODOS: Estudio cualitativo-exploratorio basado en entrevistas semiestructuradas, según las categorías del modelo de creencias en salud. Se realizaron 34 entrevistas y 6 grupos focales con líderes comunales (71 informantes en total en áreas rurales y urbanas de Argentina, Costa Rica y Ecuador. RESULTADOS: El consumo de sal varía en las áreas rurales y urbanas de los tres países. Para la mayoría de los entrevistados, los alimentos no se podrían consumir sin sal y solo las personas que consumen una cantidad excesiva de sal tendrían riesgos para la salud. Se desconoce que los alimentos procesados contienen sal y sodio. Aunque no medían la cantidad de sal agregada a las comidas, los participantes consideraban que consumían poca sal y no percibían su salud en riesgo. La mayoría de los informantes no revisaba la información nutricional y los que lo hacían manifestaron no comprenderla. CONCLUSIONES: Existe un conocimiento popular en relación con la sal, no así con el término "sodio". Se consume más sal y sodio de lo informado y no hay perspectivas de reducción. Aunque se sabe que el consumo excesivo de sal representa un riesgo para la salud, no se perciben en riesgo. El reemplazo de la palabra sodio por sal facilitaría la elección de los alimentos.OBJECTIVE: To identify the knowledge, perceptions, and behavior related to the consumption of salt and sodium in food and its relationship to health and the nutritional labeling of food in three countries of the Region. METHODS: Qualitative-exploratory study based on semi-structured interviews, according to the categories of the Health Belief Model. Thirty-four interviews and six focus groups were conducted with community leaders (71 total

    10. Suplementação com zinco pode recuperar apetite para refeições de sal Zinc supplementation may recover taste for salt meals

      Directory of Open Access Journals (Sweden)

      Dioclécio Campos Jr

      2004-02-01

      Full Text Available OBJETIVO: Avaliar o efeito do zinco em crianças de 8 meses a 5 anos de idade com falta de apetite para refeições de sal. POPULAÇÃO E MÉTODOS: Estudo duplo-cego com placebo. Dois grupos de crianças apresentando recusa a alimentos de sal foram acompanhados durante 6 meses. As crianças do primeiro grupo receberam 1 mg/kg/dia de zinco sob forma de quelato, durante três meses, enquanto as do segundo grupo receberam uma solução placebo durante o mesmo período. Os dois grupos eram semelhantes quanto a idade, sexo, peso, duração do aleitamento materno, idade de desmame e exames hetamatológicos e bioquímicos. A resposta das crianças ao tratamento foi informada em questionário preenchido regularmente pelas mães. RESULTADOS: 17/20 (85% das crianças que receberam zinco e 10/20 (50% das que receberam placebo recuperaram o apetite para refeições de sal. A diferença foi estatisticamente significativa para p OBJECTIVE: To evaluate the effect of zinc on the appetite for salt foods in children aged 8 months to 5 years. METHOD: Double-blind, placebo-controlled study. Two groups of 20 children refusing to eat salt foods were followed during six months. The children in the first group received zinc chelate 1 mg/kg daily for three months. The second group received a placebo solution. The two groups were similar in terms of age, sex, weight, duration of breastfeeding, age at weaning, biochemical and hematological data. The response of children to treatment was informed by their mothers. RESULTS: 17/20 (85% of the children receiving zinc chelate and 10/20 (50% of the children receiving placebo improved their appetite for salt foods. The difference was statistically significant (p < 0.05, chi-square test. CONCLUSION: Zinc supplementation may improve the acceptance of salt foods by children.

    11. Intervenciones para reducir el consumo de sal a través del etiquetado Interventions to reduce salt consumption through labeling

      Directory of Open Access Journals (Sweden)

      Javier Sanz-Valero

      2012-04-01

      Full Text Available OBJETIVO: Determinar el grado en que el etiquetado de productos alimentarios informa acerca del consumo de sal. MÉTODOS: Se realizó un análisis crítico y sistemático de 9 estudios -seleccionados de un total de 133- recogidos mediante revisión de la literatura científica sobre las intervenciones realizadas en población humana orientadas a reducir el consumo de sal a través de mensajes en el etiquetado. Toda la información se obtuvo mediante consulta directa y vía Internet a la literatura científica recogida en varias bases de datos. RESULTADOS: De los 133 artículos recuperados, una vez aplicados los criterios de inclusión y exclusión, se seleccionaron para la revisión 9 trabajos: en todos ellos se planteaba a la población en estudio su conocimiento acerca de la interpretación de la etiqueta sobre el contenido de sal de los alimentos. CONCLUSIONES: Los consumidores de alimentos entienden y valoran más a los logotipos que a la composición nutricional que figura en la etiqueta. Se justificaría entonces el uso de logotipos alternativos que facilitaran esta información y que además fueran normalizados. Esta situación se ve reforzada porque la inclusión de símbolos fácilmente entendibles favorece la correcta elección por parte de los consumidores.OBJECTIVE: Determine the extent to which labeling of food products informs about salt consumption. METHODS: A critical and systematic analysis was conducted of 9 studies selected out of a total of 133 studies. The studies were collected by reviewing the scientific literature on interventions conducted in the human population aimed towards reducing salt consumption through label messaging. All of the information was obtained by direct consultation and by Internet from the scientific literature collected in several databases. RESULTS: Out of the 133 articles recovered, after the inclusion and exclusion criteria were applied, 9 studies were selected for review. All of them took into

    12. Lou Gehrig's Disease (ALS)

      Science.gov (United States)

      ... for Educators Search English Español Lou Gehrig's Disease (ALS) KidsHealth / For Kids / Lou Gehrig's Disease (ALS) What's ... with ALS in the 1930s. What Happens in ALS? ALS damages motor neurons in the brain and ...

    13. Source attribution of human campylobacteriosis using a meta-analysis of case-control studies of sporadic infections

      DEFF Research Database (Denmark)

      Coutinho Calado Domingues, Ana Rita; Pires, Sara Monteiro; Hisham Beshara Halasa, Tariq

      2012-01-01

      important sources of human disease is essential for prioritizing food safety interventions and setting public health goals. Numerous case-control studies of sporadic infections of campylobacteriosis have been published. These studies investigated a variety of potential risk factors for disease, often using......, and conclusions. With the objective of identifying the most important risk factors for human sporadic campylobacteriosis, we performed a SR of case-control studies of human sporadic cases and a meta-analysis of the obtained results. A combined SR focusing on Salmonella and Campylobacter studies was performed...... and the results analysed separately. From 1295 identified references, 131 passed the relevance screening, 73 passed the quality assessment stage, and data was extracted from 72 studies. Of these, 38 focused on campylobacteriosis. Information on exposures of cases and controls, and estimated odds ratios...

    14. Economia do petróleo e desenvolvimento: estudo exploratório sobre as perspectivas do pré-sal brasileiro

      OpenAIRE

      Roos, Breno Carvalho

      2013-01-01

      A pesquisa analisa as possibilidades abertas pela exploração de petróleo na camada pré-sal, avaliando de que maneira a expansão do setor petrolífero poderá acelerar o crescimento econômico brasileiro e contribuir para novas estratégias de desenvolvimento. A hipótese inicial é que o Brasil enfrenta uma restrição estrutural de balanço de pagamentos, que poderá ser amenizada pela diminuição das importações de petróleo e derivados e pelo aumento do valor exportado no setor. Para avaliá-la são res...

    15. A influência da dança de salão na percepção corporal

      OpenAIRE

      Fonseca,Cristiane Costa; Vecchi,Rodrigo Luiz; Gama,Eliane Florencio

      2012-01-01

      A dança de salão é uma forma de expressão dos sentimentos através dos movimentos. Os casais devem perceber as suas possibilidades de ação motora e o espaço disponível para interagir com o outro organizando seu corpo em um padrão espacial. Esses fatores combinados com o resgate das emoções despertadas pela dança tornam a prática potencializadora de alterações positivas na relação mente-corpo modificando a percepção corporal, tanto no seu aspecto proprioceptivo (esquema corporal), como emociona...

    16. É possível determinar a maturidade fisiológica das sementes de milho (Zea mays) utilizando o sal de tetrazólio?

      OpenAIRE

      Luiz Felipe Nicoleti Torrezan

      2016-01-01

      Nessa pesquisa foi avaliada a utilização do sal de tetrazólio para determinar a maturidade fisiológica das sementes de milho. As sementes utilizadas foram dos híbridos Pioneer 4285 e Dow 2B587, semeadas em 03/10/2014 e 05/12/2014 respectivamente, e colhidas a partir dos 40 dias após o florescimento (DAF), com intervalos de 4 dias até os 68 DAF. As sementes colhidas foram avaliadas quanto à viabilidade e ao vigor (testes de germinação, de emergência da plântula, de condutividade elétrica, de e...

    17. Bioécologie des Coléoptères (Arthropodes- Insectes) du marais salé de l’embouchure de la Tafna (Tlemcen)

      OpenAIRE

      BOUKLI HACENE, Samira

      2012-01-01

      Le marais salé de l‘embouchure de la Tafna présente plusieurs originalités liées, d‘une part à sa situation naturelle en tant que zone éponge de la zone d‘estuaire du bassin versant de la Tafna et d‘autre part à son état perturbé engendré par une action anthropique intense (mise en place de l‘usine d‘aquaculture et agriculture). L‘hydrologie de surface a révélé des niveaux de submersion différents, ainsi le marais est soumis à des inondations fréquentes déterminant une unité de...

    18. El piano de la música de salón. Un estudio de caso en Guadalajara de Buga, 1890-1930

      Directory of Open Access Journals (Sweden)

      Maria Victoria Casas Figueroa

      2010-01-01

      Full Text Available El artículo analiza, a partir de las partituras empastadas y obras manuscritas, entre otro tipo de fuentes, la música de salón y la interpretación del piano en Guadalajara de Buga (Valle del Cauca entre 1897 y 1930. En particular el papel jugado por las mujeres pianistas, los compositores y directores locales. La autora estudia también la composición musical y tendencias registradas, los distintos esquemas rítmicos del vals y el pasillo manifiestos en la escritura de la música para piano. Identifica que para ciertos aires tales como el vals, el pasillo, entre otros, existen diferentes formas de ejecución del instrumento, uso del teclado, y que la armonía del repertorio está dada por el ambiente tonal. El piano se muestra como un factor diferenciador respecto de la colectividad.

    19. Use of coccidiostat in mineral salt and study on ovine eimeriosis Uso de coccidiostático no sal mineral e estudo da eimeriose ovina

      Directory of Open Access Journals (Sweden)

      Alberto Luiz Freire de Andrade Júnior

      2012-03-01

      Full Text Available Coccidiosis is a serious obstacle to sheep production, which is becoming a limiting factor, especially with regard to lamb production. However, there are few studies on this parasite in the State of Rio Grande do Norte. The aim of this study was to evaluate the action of decoquinate, added to mineral salt, for controlling Eimeria infection in lambs, and to identify which species are infecting sheep in the eastern region of the state. This study was carried out from August 2009 to January 2010, and used 76 animals. These were divided into two treatment groups: one with common mineral salt, and the other with mineral salt enriched with 6% micronized decoquinate. Fecal samples and body weight measurements were taken every 14 days for parasitological diagnosis, weight gain follow-up and quantitative analysis. The study showed that there was a significant difference in OPG only at the 7th collection, but no significant difference in weight gain. The Eimeria species found were E. ahsata. E. crandallis. E. granulosa. E. intrincata. E. ovina. E. faurei. E. ovinoidalis. E. pallida and E. parva. It was concluded that addition of decoquinate to mineral salt gave rise to lower oocyst elimination, thus favoring eimeriosis control in sheep.A coccidiose constitui-se num sério obstáculo à ovinocultura, a qual vem se tornando um fator limitante para a exploração, especialmente para a produção de cordeiros precoces. Porém, poucos são os estudos com esse parasito no Estado do Rio Grande do Norte. O objetivo deste trabalho foi avaliar a ação do decoquinato, adicionado ao sal mineral, no controle da infecção causada por parasitas do gênero Eimeria em cordeiros, e identificar quais as espécies infectam ovinos na região leste Potiguar. O trabalho foi desenvolvido entre agosto de 2009 e janeiro de 2010, e foram usados 76 animais, distribuídos em dois tratamentos, um com sal mineral comum e o outro com sal mineral enriquecido com decoquinato a 6

    20. Salários e tecnologia num modelo de crescimento com restrição externa Wages and technology in a growth model with external constraints

      Directory of Open Access Journals (Sweden)

      Marcus Dutra

      2006-04-01

      Full Text Available O modelo proposto formaliza uma preocupação que se encontra cada vez com mais freqüência na literatura, a saber, a de que trabalhadores que não têm acesso a condições adequadas de capacitação, saúde e motivação tendem a aprender menos, reduzindo a velocidade de inovação em produtos e processos na firma. Na medida em que a competitividade internacional repousa crescentemente na inovação e/ou na imitação rápida de tecnologia, um nível baixo de desenvolvimento humano implicará oportunidades de crescimento perdidas. Assim, o modelo assume que, até certo valor crítico do salário real, aumentos de salário real produzem aumentos de competitividade e da taxa de crescimento com equilíbrio externo, tornando compatíveis o crescimento econômico e a distribuição da renda, inclusive num contexto de abertura e de intensa concorrência internacional.The model formalizes a topic that the economic literature addresses with increasing frequency, namely that workers who have no access to adequate levels of education, health and motivation tend to learn more slowly and this in turn reduces the rate of innovation in products and processes in the firm. To the extent that international competitiveness increasingly relies on innovation and imitation of technology, a low level of human development will render lost opportunities for growth. Thus, the model assumes that - up to a certain critical level of the real wage - increases in real wages lead to a higher rate of growth consistent with balance-of-payments equilibrium, which makes compatible growth and income distribution even in contexts of external openness and intense international competition.

    1. O diferencial de salários formal-informal no Brasil: segmentação ou viés de seleção?

      Directory of Open Access Journals (Sweden)

      Naércio Aquino Menezes Filho

      2004-06-01

      Full Text Available Neste artigo são investigados os determinantes do diferencial de salários entre os mercados de trabalho formal e informal no Brasil. Utiliza-se um método econométrico de cross-section repetidas (pseudo-paineis, no qual o agrupamento dos dados por geração, tempo e escolaridade permite controlar o fenômeno estudado por características observáveis e não observáveis dos indivíduos. Há fortes evidências de viés de auto-seleção, indicando que os salários mais altos no setor formal decorrem dos melhores atributos individuais não observáveis dos empregados neste setor e não de características intrínsecas a este setor, como seria de se esperar pela hipótese de segmentação.The paper examines the determinants of the wage differential between workers in the formal and informal sectors of the Brazilian labor market. An econometric method of repeated cross-sections (pseudo-panel is used, that allows the researcher to control for observed and unobserved characteristics of the individuals in the sample. We present strong evidence of self-selection bias, meaning that the wage differentials are the consequence of better individual non-observable characteristics of the workers in the formal sector and not to the characteristics of this sector.

    2. Consumo de sal fortificada con yodo en niños de 12 a 35 meses de edad y mujeres en edad fértil en el Perú

      Directory of Open Access Journals (Sweden)

      Marianella Miranda C

      2004-04-01

      Full Text Available Objetivo: Determinar la prevalencia del consumo de sal fortificada con yodo en niños de 12 a 35 meses de edad y mujeres en edad fértil. Material y Métodos: La información fue obtenida de la Encuesta Nacional de Consumo de Alimentos en Mujeres en Edad Fértil y Niños entre 12 y 35 meses del año 2003. La muestra estuvo constituida por 2907 niños y 2909 mujeres. La determinación de la presencia de yodo en sal se realizó a través de un método cualitativo normado para su uso en el Perú. Resultados: El porcentaje de niños y mujeres con consumo de sal yodada adecuadamente fue 92,9% y 92,8%, respectivamente; las menores prevalencias se encontraron en la selva y en el departamento de Loreto. Conclusiones: Se encontró un alto porcentaje de niños y mujeres en edad fértil con consumo de sal yodada adecuada, resultado de la estrategia nacional desarrollada para el control de los desórdenes por deficiencia de yodo en nuestro país.

    3. Establishment of induced pluripotent stem cell (iPSC line from a 57-year old patient with sporadic Alzheimer's disease

      Directory of Open Access Journals (Sweden)

      Anna Ochalek

      2016-07-01

      Full Text Available Peripheral blood mononuclear cells (PBMCs were collected from a clinically characterised 57-year old woman with sporadic Alzheimer's disease. The PMBCs were reprogrammed with the human OSKM transcription factors using the Sendai-virus delivery system. The transgene-free iPSC showed pluripotency verified by immunocytochemistry for pluripotency markers and differentiated spontaneously towards the 3 germ layers in vitro. Furthermore, the iPSC line showed normal karyotype. Our model might offer a good platform to further study the pathomechanism of sporadic AD, to identify early biomarkers and also for drug testing and gene therapy studies.

    4. La Rama Judicial frente al conflicto armado

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      Luis Alberto Gómez Araujo

      2003-01-01

      Full Text Available La Rama Judicial en Colombia ha sido victima continua de la violencia, pero en igual sentido, se ha convertido también en un factor generador en la medida en que la falta de una pronta y cumplida justicia o la imposibilidad de acceder a ella, trae como consecuencia una desconfianza en la institucionalídad y una tenencia a la búsqueda de otras soluciones al margen de la ley. No obstante la existencia de un marco normativo idóneo para impulsar procesos de paz en Colombia y los intentos formales por acudir a los mecanismos concertados de solución de conflictos, el fracaso de tales esfuerzos se debe a la ausencia de voluntad política real de los actores del conflicto, lo que ha venido generando en la comunidad incredulidad y desesperanza en la solución del conflicto por estas vias. Sin embargo, es vital para elfuturo de la sociedad colombiana persistir en la exploración defórmulas que busquen una salída a la coyuntura dolorosa de violencia que estamos pasando.

    5. Results of Experimental and Theoretical Studies of the Atmospheric Turbulence, Internal Gravity Waves and Sporadic-E Layers by Resonant Scattering of Radio Waves on Artificial Periodic Irregularities

      Science.gov (United States)

      Bakhmetieva, Nataliya V.; Grigoriev; Tolmacheva, Ariadna V.

      Artificial periodic irregularities (API) formed by the powerful standing radio waves in the ionospheric plasma give the good chance for the lower ionosphere comprehensive studies. In this paper we present some applications of the API technique for experimental studies of sporadic E-layers (E _{s}), internal gravity waves and turbulent events in the lower ionosphere. API are formed in the field of the standing radio wave produced by interference of the incident wave and reflected one from the ionosphere (in more details about the API technique one can see in the book Belikovich et al., Ionospheric Research by Means of Artificial Periodic Irregularities - Katlenburg-Lindau, Germany. 2002. Copernicus GmbH. ISBN 3-936586-03-9). The spatial period of the irregular structure is equal to the standing wavelength Lambda or one-half the powerful wavelength lambda/2. API diagnostics are carried out at the API relaxation or decay stage by their sounding of probing radio pulses. Based on the measurement of an amplitude and a phase of the API scattered signal their relaxation time and regular vertical plasma velocity are measured. In the E-region of the ionosphere API are formed as a result of the diffusion redistribution of the non-uniformly heated plasma. The relaxation of the periodic structure is specified by the ambipolar diffusion process. The diffusion time is tau=(K (2) D _{a}) (-1) where K=2pi/Lambda and D _{a} is the ambipolar diffusion rate. The atmospheric turbulence causes reduction of the API relaxation time in comparison the diffusion time. Determination of the turbulent velocity is based on this fact. The vertical plasma velocity is determined by measuring the phase of the scattered signal. Atmospheric waves having the periods from 5-10 minutes to 5-6 hours give the contribution to temporal variations of the velocity. Parameters and effects of atmospheric waves and the turbulence on the API relaxation process are presented. Determination of the masses of the

    6. Genetic architecture of ALS in Sardinia

      Science.gov (United States)

      Borghero, Giuseppe; Pugliatti, Maura; Marrosu, Francesco; Marrosu, Maria Giovanna; Murru, Maria Rita; Floris, Gianluca; Cannas, Antonino; Parish, Leslie D; Occhineri, Patrizia; Cau, Tea B.; Loi, Daniela; Ticca, Anna; Traccis, Sebastiano; Manera, Umberto; Canosa, Antonio; Moglia, Cristina; Calvo, Andrea; Barberis, Marco; Brunetti, Maura; Pliner, Hannah A; Renton, Alan E; Nalls, Mike A; Traynor, Bryan J; Restagno, Gabriella; Chiò, Adriano

      2014-01-01

      Conserved populations, such as Sardinians, displaying elevated rates of familial or sporadic ALS provide unique information on the genetics of the disease. Our aim was to describe the genetic profile of a consecutive series of ALS patients of Sardinian ancestry. All ALS patients of Sardinian ancestry, identified between 2008 and 2013 through the ITALSGEN consortium, were eligible to be included in the study. Patients and controls underwent the analysis of TARDBP, C9ORF72, SOD1, and FUS genes. Genetic mutations were identified in 155 out of 375 Sardinian ALS cases (41.3%), more commonly the p.A382T and p.G295S mutations of TARDBP, and the GGGGCC hexanucleotide repeat expansion of C9ORF72. One patient had both p.G295S and p.A382T mutation of TARDBP and eight carried both the heterozygous p.A382T mutation of TARDBP and a repeat expansion of C9ORF72. Patients carrying the p.A382T and the p.G295S mutations of TARDBP and the C9ORF72 repeat expansion shared distinct haplotypes across these loci. Patients with co-occurrence of C9ORF72 and TARDBP p.A382T missense mutation had a significantly lower age at onset and shorter survival. More than 40% of all cases on the island of Sardinia carry a mutation of an ALS-related gene, representing the highest percentage of ALS cases genetically explained outside of Scandinavia. Clinical phenotypes associated with different genetic mutations show some distinctive characteristics, but the heterogeneity between and among families carrying the same mutations implies that ALS manifestation is influenced by other genetic and non-genetic factors. PMID:25123918

    7. Cis-2,6-bis(2-klorofenil-3,3-dimetilpiperidin-4-one bileşiği üzerine yapısal, spektroskopik, elektronik ve doğrusal olmayan optiksel araştırmalar

      Directory of Open Access Journals (Sweden)

      Ömer Tamer

      2016-12-01

      Full Text Available Piperidin, heterosiklik moleküller arasında en iyi bilinen yapılardan biridir. Güncel çalışmalar bu tür bileşiklerin yapı-doğrusal olmayan optiksel performans ilişkisine odaklanmaktadır. Doğrusal olmayan optik malzemelerin fiber optik iletişim ve optik sinyal işlemlerinde hayati öneme sahip oldukları bilinmektedir. Bu çalışmada, bir piperidin türevi olan cis-2,6-bis(2-klorofenil-3,3-dimetilpiperidin-4-one (2C3DMPO bileşiğinin yapısal, spektroskopik, elektronik ve doğrusal olmayan optik özellikleri analiz edilmiştir. 2C3DMPO için elde edilen teorik sonuçlar deneysel değerler ile iyi bir uyum içindedirler. NMR spektrumunda, elektronegatif O atomundan dolayı, C4 atomu aşağı alanda sinyal vermiştir. HOMO ve LUMO arasındaki küçük enerji aralığı, bağ ve antibağ yörüngeleri arasındaki yoğun etkileşmeler yüksek doğrusal olmayan optik özelliklerin göstergesidir.

    8. Sporadic hemiplegic migraine with normal imaging as the initial manifestation of CADASIL.

      Science.gov (United States)

      Monteiro, Cecília; Barros, José; Taipa, Ricardo; Pereira-Monteiro, José

      2012-02-01

      Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can be present with negative family history and, especially in younger patients, with normal brain magnetic resonance. For this reason, those CADASIL patients that present only with migraine may be misdiagnosed. In the case of migraine with motor aura, sporadic hemiplegic migraine (SHM) is one of the possible misdiagnoses. We present a case of a patient who, in the first years of her disease, met the clinical criteria for SHM. A diagnosis of CADASIL was considered only when her sister presented with headache and an unknown leukoencephalopathy. This case illustrates the need for a careful review of the clinical and family history during the follow-up of primary headaches.

    9. Long-term preclinical magnetic resonance imaging alterations in sporadic Creutzfeldt-Jakob disease.

      Science.gov (United States)

      Zanusso, Gianluigi; Camporese, Giulia; Ferrari, Sergio; Santelli, Luca; Bongianni, Matilde; Fiorini, Michele; Monaco, Salvatore; Manara, Renzo; Cagnin, Annachiara

      2016-10-01

      An asymptomatic 74-year-old woman, on follow-up for a carotid body tumor, showed magnetic resonance imaging (MRI) focal restricted diffusion confined to the left temporal and occipital cortices. Thirteen months later, diffusion-weighted images revealed a bilateral cortical ribbon sign involving all lobes. After 1 month, the patient developed gait instability and cognitive decline rapidly evolving to severe dementia and death within 3 months. Prion protein gene sequence, molecular, and neuropathological studies confirmed the diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) MM1 subtype. Here we show the kinetics of MRI changes and prion spreading in preclinical sCJD MM1. Ann Neurol 2016;80:629-632. © 2016 American Neurological Association.

    10. Association between the PRNP 1368 polymorphism and the occurrence of sporadic Creutzfeldt-Jakob disease

      Science.gov (United States)

      Bratosiewicz-Wąsik, Jolanta; Smoleń-Dzirba, Joanna; Rozemuller, Annemieke J.; Jansen, Casper; Spliet, Wim; Jansen, Gerard H.; Wąsik, Tomasz J.; Liberski, Paweł P.

      2012-01-01

      Creutzfeldt-Jakob disease (CJD) is a rare transmissible neurodegenerative disorder. The etiology of sporadic form of CJD remains unsolved. In addition to the codon 129 polymorphism, polymorphisms in the non-coding region of PRNP are considered as important factors in sCJD development. To assess a possible association between PRNP 1368 SNP and sCJD, we compared the genotype, allele and haplotype frequencies of the 1368 SNP among 46 sCJD patients of Dutch origin with the respective frequencies in healthy controls. We detected a significant association between sCJD and 1368T/T genotype. A significant difference was also observed in 1368 alleles’ distribution. In the haplotype analysis, haplotype 1368C-129G was associated with decreased risk of sCJD in Dutch population. Our findings support the hypothesis that genetic variations in the regulatory region of the PRNP gene may influence the pathogenesis of sCJD. PMID:22895088

    11. MRI manifestation for the diagnosis of sporadic Creutzfeldt-Jakob disease

      International Nuclear Information System (INIS)

      Xue Yonggang; Qi Ji; Xia Shuang

      2007-01-01

      Objective: To study the MRI features of sporadic Creutzfeldt-Jakob disease (sCJD). Methods: Three patients with clinically diagnosed sCJD underwent MR study, including SE T 1 WI, FSE T 2 WI, and DWI sequences. The MR imaging features were analyzed. Results: The lesions were not definite either in SE T 1 WI or in FSE T 2 WI, but were prominent in DWI. Abnormal hyperintensive signal appeared in the cerebral cortex, with the frontal, parietal, and occipital lobes being the mostly involved region. The subcortical white matter was normal. The bilateral caudate nuclei and thalami could also be involved. The abnormal signal could be either symmetrical or asymmetrical. There was diffuse atrophy of the brain parenchyma in the late phase of disease, especially in the cortex. Conclusion: With the application of MR study, especially the DWI, combined with its characteristic clinical manifestation, the diagnosis of sCJD can be made definitely. (authors)

    12. Cerebrospinal fluid tau levels are a marker for molecular subtype in sporadic Creutzfeldt-Jakob disease.

      Science.gov (United States)

      Karch, André; Hermann, Peter; Ponto, Claudia; Schmitz, Matthias; Arora, Amandeep; Zafar, Saima; Llorens, Franc; Müller-Heine, Annika; Zerr, Inga

      2015-05-01

      The molecular subtype of sporadic Creutzfeldt-Jakob disease (sCJD) is an important prognostic marker for patient survival. However, subtype determination is not possible during lifetime. Because the rate of disease progression is associated with the molecular subtype, this study aimed at investigating if total tau, a marker of neuronal death, allows premortem diagnosis of molecular subtype when codon 129 genotype is known. Two hundred ninety-six sCJD patients were tested for their cerebrospinal fluid total tau level at the time of diagnosis and were investigated for their sCJD subtype postmortem. There was a significant association between tau levels and the prion protein type in patients with codon 129 MM (p disease. Copyright © 2015 Elsevier Inc. All rights reserved.

    13. Endplate Structure and Parameters of Neuromuscular Transmission in Sporadic Centronuclear Myopathy Associated with Myasthenia

      Science.gov (United States)

      Liewluck, Teerin; Shen, Xin-Ming; Milone, Margherita; Engel, Andrew G.

      2011-01-01

      Centronuclear myopathy is a pathologically diagnosed congenital myopathy. The disease genes encode proteins with membrane modulating properties (MTM1, DNM2, and BIN1) or alter excitation-contraction coupling (RYR1). Some patients also have myasthenic symptoms but electrodiagnostic and endplate studies in these are limited. A sporadic patient had fatigable weakness and a decremental EMG response. Analysis of centronuclear myopathy disease- and candidate- genes identified no mutations. Quantitative endplate structure and in vitro microelectrode studies revealed simplified postsynaptic regions, endplate remodeling with normal nerve terminal size, normal synaptic vesicle density, and mild acetylcholine receptor deficiency. The amplitude of the miniature endplate potential was decreased to 60% of normal. Quantal release by nerve impulse was reduced to 40% of normal due to a decreased number of releasable quanta. The safety margin of neuromuscular transmission is compromised by decreased quantal release by nerve impulse and by a reduced postsynaptic response to the released quanta. PMID:21482111

    14. Wernicke-Korsakoff syndrome as a rare phenotype of sporadic Creutzfeldt-Jakob disease.

      Science.gov (United States)

      Bielewicz, Joanna; Szczepańska-Szerej, Anna; Ogórek, Magdalena; Dropko, Piotr; Wojtal, Katarzyna; Rejdak, Konrad

      2018-02-09

      We reported the case of a patient with Wernicke-Korsakoff syndrome (WKs) as an early clinical manifestation of sporadic Creutzfeld-Jakob disease (sCJD). The 66-year-old female complained of dizziness and imbalance which mostly occurred while walking. A neurological examination revealed a triad of symptoms characteristic for WKs such as gaze paresis, ataxia of limbs and trunk as well as memory disturbances with confabulations. The disturbances increased during the course of the disease, which led to the death of the patient four months after the appearance of the signs. The patient was finally diagnosed with sCJD disease. The most useful ancillary examination results supporting sCJD diagnosis were brain diffusion DWI MRI (diffusion weighted magnetic resonance imaging) and the presence of 14-3-3 protein in CSF (cerebrospinal fluid). Since that manifestation of sCJD is very unique other causes should be taken into consideration while making a final diagnosis.

    15. High-resolution analysis of DNA copy number alterations in patients with isolated sporadic keratoconus.

      Science.gov (United States)

      Abu-Amero, Khaled K; Hellani, Ali M; Al Mansouri, Sameer M; Kalantan, Hatem; Al-Muammar, Abdulrahman M

      2011-03-30

      To determine whether patients with sporadic, non-familial keratoconus and no pathogenic mutations in the visual system homeobox 1 (VSX1) gene have evidence of chromosomal copy number alterations. Twenty Saudi Arabian patients with isolated keratoconus, no family history of the disease and no mutations in VSX1 were recruited. Additionally, 10 ethnically-matched healthy controls were also recruited for this study. We screened patients for chromosomal copy number aberrations using the Agilent Human Genome CGH 244A Oligo Microarray Chip. None of the keratoconus patients screened had evidence of chromosomal copy number alterations when compared to normal ethnically matched controls. Chromosomal deletions and/or duplications were not detected in any of the patients tested here. Other chromosomal imbalances such as translocations, inversions, and some ploidies cannot be detected by current array CGH technology and other nuclear genetic or epigenetic factors cannot be excluded as a possible contributing factor to keratoconus pathogenesis.

    16. Primary sporadic Burkitt lymphoma of the orbit, clinical characteristics, management, and outcomes: a case study.

      Science.gov (United States)

      Bouali, Sofiene; Said, Imed Ben; Yedeas, Mohamed Dahmani; Abderrahmen, Khansa; Maatar, Nidhal; Boubaker, Adnen; Kallel, Jalel; Jemel, Hafedh

      2016-03-01

      Involvement of the orbit with Burkitt's lymphoma is a very rare presentation of extra-nodal lymphoma. We report a case of a 2-year-old female presented an unusual location of sporadic Burkitt's lymphoma arising in the orbital region. Diagnostic magnetic resonance imagining identified an oval-shaped mass on the lateral rectus of the right orbit that caused dislocation of eyeball, for which she underwent a biopsy from the periorbital swellings. The mass was histologically confirmed as Burkitt's lymphoma, and postoperative aggressive chemotherapy was initiated. We describe clinical diagnosis, histological aspects, radiological features, and current management of this rapidly growing malignant tumor. Because of the rapid progression of Burkitt lymphoma, and considering that it responds well to treatment, early recognition and appropriate management are important factors for survival and to preserve visual function.

    17. Primary generalized familial and sporadic glucocorticoid resistance (Chrousos syndrome) and hypersensitivity.

      Science.gov (United States)

      Charmandari, Evangelia; Kino, Tomoshige; Chrousos, George P

      2013-01-01

      Familial or sporadic primary generalized glucocorticoid resistance or Chrousos syndrome is a rare genetic condition characterized by generalized, partial, target-tissue insensitivity to glucocorticoids and a consequent hyperactivation of the hypothalamic-pituitary-adrenal (HPA) axis. Primary generalized glucocorticoid hypersensitivity (PGGH) represents the mirror image of the former, and is characterized by generalized, partial, target-tissue hypersensitivity to glucocorticoids, and compensatory hypoactivation of the HPA axis. The molecular basis of both conditions has been ascribed to mutations in the human glucocorticoid receptor (hGR) gene, which impair the molecular mechanisms of hGR action and alter tissue sensitivity to glucocorticoids. This review summarizes the pathophysiology, molecular mechanisms and clinical aspects of Chrousos syndrome and PGGH. Copyright © 2013 S. Karger AG, Basel.

    18. No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia

      DEFF Research Database (Denmark)

      Raitila, A; Georgitsi, M; Karhu, A

      2007-01-01

      . Here, we have analyzed 32 pituitary adenomas and 79 other tumors of the endocrine system for somatic AIP mutations by direct sequencing. No somatic mutations were identified. However, two out of nine patients with prolactin-producing adenoma were shown to harbor a Finnish founder mutation (Q14X...... as non-secreting pituitary adenomas have been reported, most mutation-positive patients have had growth hormone-producing adenomas diagnosed at relatively young age. Pituitary adenomas are also component tumors of some familial endocrine neoplasia syndromes such as multiple endocrine neoplasia type 1...... (MEN1) and Carney complex (CNC). Genes underlying MEN1 and CNC are rarely mutated in sporadic pituitary adenomas, but more often in other lesions contributing to these two syndromes. Thus far, the occurrence of somatic AIP mutations has not been studied in endocrine tumors other than pituitary adenomas...

    19. Loss of p27 expression and microsatellite instability in sporadic colorectal cancer.

      Science.gov (United States)

      Sarli, Leopoldo; Bottarelli, Lorena; Azzoni, Cinzia; Campanini, Nicoletta; Di Cola, Gabriella; Barilli, Angela Luciana; Marchesi, Federico; Mazzeo, Antonio; Salvemini, Carlo; Morari, Silvia; Di Mauro, Davide; Donadei, Enrico; Necchi, Fransesca; Roncoroni, Luigi; Bordi, Cesare

      2006-08-01

      The role of the loss of p27 protein expression in the oncogenesis of colorectal cancer is still in debate. In this study, we prospectively examined the immunohistochemical expression of p27 in 108 consecutive colorectal cancers, and we analysed the relationship with the results, the clinicopathological data, microsatellite instability (MSI) and other genetic alterations of tumours. Unselected patients (108) who underwent curative colorectal resection for sporadic colorectal cancer in a three-year period were evaluated for MSI using 6 microsatellite markers, and for the presence of p27, p53, Fhit, Mlh1 and Msh2 proteins by means of immunostaining. The relationships between these markers were analysed. p27 protein expression was examined for association with disease recurrences and survival. Lack of p27 expression was noted in 33 out of 108 (30.5%) colorectal cancer cases (Pcancers (Pcancers with MSI (Pcancers.

    20. Four Sporadic Pediatric Cases of Yersinia enterocolitica O:8 Infection in a Rural Area of Japan.

      Science.gov (United States)

      Minami, Kisei; Yasuda, Ryu; Terakawa, Runa; Koike, Yumi; Takeuchi, Koichi; Higuchi, Tsukasa; Horiuchi, Ayaka; Kubota, Noriko; Hidaka, Eiko; Kawakami, Yoshiyuki

      2017-03-24

      In the spring of 2015, we experienced a cluster of 4 sporadic cases of yersiniosis in children in Nagano prefecture, a rural area of Japan. Two patients developed appendicitis-like episodes; one had acute gastroenteritis, and the other had bacteremia associated with liver abscess. The causative agent of these infections was Yersinia enterocolitica serogroup O:8. None of the patients had an underlying illness, and all have recovered completely. The patients were neither socially nor geographically related to each other. These 4 consecutive cases suggest that Y. enterocolitica O:8 has spread substantially in the middle part of Japan, and that this virulent strain might be more common than previously reported in our country.

    1. [Gene expression profile of spinal ventral horn in ALS].

      Science.gov (United States)

      Yamamoto, Masahiko; Tanaka, Fumiaki; Sobue, Gen

      2007-10-01

      The causative pathomechanism of sporadic amyotrophic lateral sclerosis (ALS) is not clearly understood. Using microarray technology combined with laser-captured microdissection, gene expression profiles of degenerating spinal motor neurons as well as spinal ventral horn from autopsied patients with sporadic ALS were examined. Spinal motor neurons showed a distinct gene expression profile from the whole spinal ventral horn. Three percent of genes examined were significantly downregulated, and 1% were upregulated in motor neurons. In contrast with motor neurons, the total spinal ventral horn homogenates demonstrated 0.7% and 0.2% significant upregulation and downregulation of gene expression, respectively. Downregulated genes in motor neurons included those associated with cytoskeleton/axonal transport, transcription and cell surface antigens/receptors, such as dynactin 1 (DCTN1) and early growth response 3 (EGR3). In particular, DCTN1 was markedly downregulated in most residual motor neurons prior to the accumulation of pNF-H and ubiquitylated protein. Promoters for cell death pathway, death receptor 5 (DR5), cyclins C (CCNC) and A1 (CCNA), and caspases were upregulated, whereas cell death inhibitors, acetyl-CoA transporter (ACATN) and NF-kappaB (NFKB) were also upregulated. In terms of spinal ventral horn, the expression of genes related to cell surface antigens/receptors, transcription and cell adhesion/ECM were increased. The gene expression resulting in neurodegenerative and neuroprotective changes were both present in spinal motor neurons and ventral horn. Moreover, Inflammation-related genes, such as belonging to the cytokine family were not, however, significantly upregulated in either motor neurons or ventral horn. The sequence of motor neuron-specific gene expression changes from early DCTN1 downregulation to late CCNC upregulation in sporadic ALS can provide direct information on the genes leading to neurodegeneration and neuronal death, and are helpful

    2. Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

      Directory of Open Access Journals (Sweden)

      Celeste Sassi

      Full Text Available The cerebral deposition of Aβ42, a neurotoxic proteolytic derivate of amyloid precursor protein (APP, is a central event in Alzheimer's disease (AD(Amyloid hypothesis. Given the key role of APP-Aβ metabolism in AD pathogenesis, we selected 29 genes involved in APP processing, Aβ degradation and clearance. We then used exome and genome sequencing to investigate the single independent (single-variant association test and cumulative (gene-based association test effect of coding variants in these genes as potential susceptibility factors for AD, in a cohort composed of 332 sporadic and mainly late-onset AD cases and 676 elderly controls from North America and the UK. Our study shows that common coding variability in these genes does not play a major role for the disease development. In the single-variant association analysis, the main hits, none of which statistically significant after multiple testing correction (1.9e-4sporadic AD.

    3. Herpes Simplex Virus Type 1 and Other Pathogens are Key Causative Factors in Sporadic Alzheimer's Disease.

      Science.gov (United States)

      Harris, Steven A; Harris, Elizabeth A

      2015-01-01

      This review focuses on research in epidemiology, neuropathology, molecular biology, and genetics regarding the hypothesis that pathogens interact with susceptibility genes and are causative in sporadic Alzheimer's disease (AD). Sporadic AD is a complex multifactorial neurodegenerative disease with evidence indicating coexisting multi-pathogen and inflammatory etiologies. There are significant associations between AD and various pathogens, including Herpes simplex virus type 1 (HSV-1), Cytomegalovirus, and other Herpesviridae, Chlamydophila pneumoniae, spirochetes, Helicobacter pylori, and various periodontal pathogens. These pathogens are able to evade destruction by the host immune system, leading to persistent infection. Bacterial and viral DNA and RNA and bacterial ligands increase the expression of pro-inflammatory molecules and activate the innate and adaptive immune systems. Evidence demonstrates that pathogens directly and indirectly induce AD pathology, including amyloid-β (Aβ) accumulation, phosphorylation of tau protein, neuronal injury, and apoptosis. Chronic brain infection with HSV-1, Chlamydophila pneumoniae, and spirochetes results in complex processes that interact to cause a vicious cycle of uncontrolled neuroinflammation and neurodegeneration. Infections such as Cytomegalovirus, Helicobacter pylori, and periodontal pathogens induce production of systemic pro-inflammatory cytokines that may cross the blood-brain barrier to promote neurodegeneration. Pathogen-induced inflammation and central nervous system accumulation of Aβ damages the blood-brain barrier, which contributes to the pathophysiology of AD. Apolipoprotein E4 (ApoE4) enhances brain infiltration by pathogens including HSV-1 and Chlamydophila pneumoniae. ApoE4 is also associated with an increased pro-inflammatory response by the immune system. Potential antimicrobial treatments for AD are discussed, including the rationale for antiviral and antibiotic clinical trials.

    4. Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.

      Science.gov (United States)

      Salvi, Alessandro; Giacopuzzi, Edoardo; Bardellini, Elena; Amadori, Francesca; Ferrari, Lia; De Petro, Giuseppina; Borsani, Giuseppe; Majorana, Alessandra

      2016-11-01

      Dental agenesis is one of the most common congenital craniofacial abnormalities. Dental agenesis can be classified, relative to the number of missing teeth (excluding third molars), as hypodontia (1 to 5 missing teeth), oligodontia (6 or more missing teeth), or anodontia (lack of all teeth). Tooth agenesis may occur either in association with genetic syndromes, based on the presence of other inherited abnormalities, or as a non-syndromic trait, with both familiar and sporadic cases reported. In this study, we enrolled 16 individuals affected by tooth agenesis, prevalently hypodontia, and we carried out direct Sanger sequencing of paired box 9 (PAX9) and Msh homeobox 1 (MSX1) genes in 9 subjects. Since no mutations were identified, we performed whole exome sequencing (WES) in the members of 5 families to identify causative gene mutations either novel or previously described. Three individuals carried a known homozygous disease mutation in the Wnt family member 10A (WNT10A) gene (rs121908120). Interestingly, two of these individuals were siblings and also carried a heterozygous functional variant in EDAR-associated death domain (EDARADD) (rs114632254), another disease causing gene, generating a combination of genetic variants never described until now. The analysis of exome sequencing data in the members of other 3 families highlighted new candidate genes potentially involved in tooth agenesis and considered suitable for future studies. Overall, our study confirmed the major role played by WNT10A in tooth agenesis and the genetic heterogeneity of this disease. Moreover, as more genes are shown to be involved in tooth agenesis, WES analysis may be an effective approach to search for genetic variants in familiar or sporadic tooth agenesis, at least in more severe clinical manifestations.

    5. Seizures in E200K familial and sporadic Creutzfeldt-Jakob disease.

      Science.gov (United States)

      Appel, S; Chapman, J; Cohen, O S; Rosenmann, H; Nitsan, Z; Blatt, I

      2015-03-01

      Although seizures (other than myoclonus) are frequently reported in Creutzfeldt-Jakob disease (CJD), their frequency, clinical manifestations, and effect on the disease course is unknown. To characterize the frequency of seizures in E200K familial and sporadic CJD, to describe its semiology, EEG and MRI findings. In this retrospective study, we reviewed all patients with CJD who were seen in the Sheba Medical Center between the years 2003-2012 and underwent clinical evaluation, genetic testing, EEG and MRI studies. The diagnosis of seizures was carried out based on documentation of episodes consistent with seizures or episode of unresponsiveness correlated with ictal activity in EEG. Sixty-four probable patients with CJD were included in the study, 57 (89%) with E200K familial (fCJD) and 7 (11%) with sporadic (sCJD). Seizures occurred in 8 patients: 3 of 7 (43%) in patients with sCJD compared to 5/57 (9%) in patients with E200K fCJD (P = 0.04, chi-square test). Two of E200K fCJD patients with seizures had other non-prion etiologies for seizures (brain metastasis, known history of temporal lobe epilepsy which started 44 years before the diagnosis of CJD). Seizures occurred late in the course of the disease with an average of 12 days between the onset of seizures and death. Seizures in E200K fCJD were infrequent and occurred late in the disease course. This difference suggests that E200K fCJD represents a separate subtype of the disease with distinct clinical characteristics. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

    6. Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.

      Directory of Open Access Journals (Sweden)

      Alexandra V Stavropoulou

      Full Text Available Germline mutations in the BRCA1 and BRCA2 genes contribute to approximately 18% of hereditary ovarian cancers conferring an estimated lifetime risk from 15% to 50%. A variable incidence of mutations has been reported for these genes in ovarian cancer cases from different populations. In Greece, six mutations in BRCA1 account for 63% of all mutations detected in both BRCA1 and BRCA2 genes. This study aimed to determine the prevalence of BRCA1 mutations in a Greek cohort of 106 familial ovarian cancer patients that had strong family history or metachronous breast cancer and 592 sporadic ovarian cancer cases. All 698 patients were screened for the six recurrent Greek mutations (including founder mutations c.5266dupC, p.G1738R and the three large deletions of exon 20, exons 23-24 and exon 24. In familial cases, the BRCA1 gene was consequently screened for exons 5, 11, 12, 20, 21, 22, 23, 24. A deleterious BRCA1 mutation was found in 43/106 (40.6% of familial cancer cases and in 27/592 (4.6% of sporadic cases. The variant of unknown clinical significance p.V1833M was identified in 9/698 patients (1.3%. The majority of BRCA1 carriers (71.2% presented a high-grade serous phenotype. Identifying a mutation in the BRCA1 gene among breast and/or ovarian cancer families is important, as it enables carriers to take preventive measures. All ovarian cancer patients with a serous phenotype should be considered for genetic testing. Further studies are warranted to determine the prevalence of mutations in the rest of the BRCA1 gene, in the BRCA2 gene, and other novel predisposing genes for breast and ovarian cancer.

    7. Regional neuronal network failure and cognition in late-onset sporadic Alzheimer disease.

      Science.gov (United States)

      Carter, S F; Embleton, K V; Anton-Rodriguez, J M; Burns, A; Ralph, M A L; Herholz, K

      2014-06-01

      The severe cognitive deficits in Alzheimer disease are associated with structural lesions in gray and white matter in addition to changes in synaptic function. The current investigation studied the breakdown of the structure and function in regional networks involving the Papez circuit and extended neocortical association areas. Cortical volumetric and diffusion tensor imaging (3T MR imaging), positron-emission tomography with (18)F fluorodeoxyglucose on a high-resolution research tomograph, and comprehensive neuropsychological assessments were performed in patients with late-onset sporadic Alzheimer disease, those with mild cognitive impairment, and elderly healthy controls. Atrophy of the medial temporal lobes was the strongest and most consistent abnormality in patients with mild cognitive impairment and Alzheimer disease. Atrophy in the temporal, frontal, and parietal regions was most strongly related to episodic memory deficits, while deficits in semantic cognition were also strongly related to reductions of glucose metabolism in the posterior cingulate cortex and temporoparietal regions. Changes in fractional anisotropy within white matter tracts, particularly in the left cingulum bundle, uncinate fasciculus, superior longitudinal fasciculus, and inferior fronto-occipital fasciculus, were significantly associated with the cognitive deficits in multiple regression analyses. Posterior cingulate and orbitofrontal metabolic deficits appeared to be related to microstructural changes in projecting white matter tracts. Many lesioned network components within the Papez circuit and extended neocortical association areas were significantly associated with cognitive dysfunction in both mild cognitive impairment and late-onset sporadic Alzheimer disease. Hippocampal atrophy was the most prominent lesion, with associated impairment of the uncinate and cingulum white matter microstructures and hippocampal and posterior cingulate metabolic impairment. © 2014 by American

    8. Paleolithic and Mediterranean diet pattern scores and risk of incident, sporadic colorectal adenomas.

      Science.gov (United States)

      Whalen, Kristine A; McCullough, Marji; Flanders, W Dana; Hartman, Terryl J; Judd, Suzanne; Bostick, Roberd M

      2014-12-01

      The Western dietary pattern is associated with higher risk of colorectal neoplasms. Evolutionary discordance could explain this association. We investigated associations of scores for 2 proposed diet patterns, the "Paleolithic" and the Mediterranean, with incident, sporadic colorectal adenomas in a case-control study of colorectal polyps conducted in Minnesota (1991-1994). Persons with no prior history of colorectal neoplasms completed comprehensive questionnaires prior to elective, outpatient endoscopy; of these individuals, 564 were identified as cases and 1,202 as endoscopy-negative controls. An additional group of community controls frequency-matched on age and sex (n = 535) was also recruited. Both diet scores were calculated for each participant and categorized into quintiles, and associations were estimated using unconditional logistic regression. The multivariable-adjusted odds ratios comparing persons in the highest quintiles of the Paleolithic and Mediterranean diet scores relative to the lowest quintiles were, respectively, 0.71 (95% confidence interval (CI): 0.50, 1.02; Ptrend = 0.02) and 0.74 (95% CI: 0.54, 1.03; Ptrend = 0.05) when comparing cases with endoscopy-negative controls and 0.84 (95% CI: 0.56, 1.26; Ptrend = 0.14) and 0.77 (95% CI: 0.53, 1.11; Ptrend = 0.13) when comparing cases with community controls. These findings suggest that greater adherence to the Paleolithic diet pattern and greater adherence to the Mediterranean diet pattern may be similarly associated with lower risk of incident, sporadic colorectal adenomas. © The Author 2014. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

    9. Sporadic versus Radiation-Associated Angiosarcoma: A Comparative Clinicopathologic and Molecular Analysis of 48 Cases

      Directory of Open Access Journals (Sweden)

      Jennifer Hung

      2013-01-01

      Full Text Available Angiosarcomas are aggressive tumors of vascular endothelial origin, occurring sporadically or in association with prior radiotherapy. We compared clinicopathologic and biologic features of sporadic angiosarcomas (SA and radiation-associated angiosarcomas (RAA. Methods. From a University of Michigan institutional database, 37 SA and 11 RAA were identified. Tissue microarrays were stained for p53, Ki-67, and hTERT. DNA was evaluated for TP53 and ATM mutations. Results. Mean latency between radiotherapy and diagnosis of RAA was 11.9 years: 6.7 years for breast RAA versus 20.9 years for nonbreast RAA (P=0.148. Survival after diagnosis did not significantly differ between SA and RAA (P=0.590. Patients with nonbreast RAA had shorter overall survival than patients with breast RAA (P=0.03. The majority of SA (86.5% and RAA (77.8% were classified as high-grade sarcomas (P=0.609. RAA were more likely to have well-defined vasoformative areas (55.6% versus 27%, P=0.127. Most breast SA were parenchymal in origin (80%, while most breast RAA were cutaneous in origin (80%. TMA analysis showed p53 overexpression in 25.7% of SA and 0% RAA, high Ki-67 in 35.3% of SA and 44.4% RAA, and hTERT expression in 100% of SA and RAA. TP53 mutations were detected in 13.5% of SA and 11.1% RAA. ATM mutations were not detected in either SA or RAA. Conclusions. SA and RAA are similar in histology, immunohistochemical markers, and DNA mutation profiles and share similar prognosis. Breast RAA have a shorter latency period compared to nonbreast RAA and a significantly longer survival.

    10. The subcatchment- and catchment-scale hydrology of a boreal headwater peatland complex with sporadic permafrost.

      Science.gov (United States)

      Sonnentag, O.; Helbig, M.; Connon, R.; Hould Gosselin, G.; Ryu, Y.; Karoline, W.; Hanisch, J.; Moore, T. R.; Quinton, W. L.

      2017-12-01

      The permafrost region of the Northern Hemisphere has been experiencing twice the rate of climate warming compared to the rest of the Earth, resulting in the degradation of the cryosphere. A large portion of the high-latitude boreal forests of northwestern Canada grows on low-lying organic-rich lands with relative warm and thin isolated, sporadic and discontinuous permafrost. Along this southern limit of permafrost, increasingly warmer temperatures have caused widespread permafrost thaw leading to land cover changes at unprecedented rates. A prominent change includes wetland expansion at the expense of Picea mariana (black spruce)-dominated forest due to ground surface subsidence caused by the thawing of ice-rich permafrost leading to collapsing peat plateaus. Recent conceptual advances have provided important new insights into high-latitude boreal forest hydrology. However, refined quantitative understanding of the mechanisms behind water storage and movement at subcatchment and catchment scales is needed from a water resources management perspective. Here we combine multi-year daily runoff measurements with spatially explicit estimates of evapotranspiration, modelled with the Breathing Earth System Simulator, to characterize the monthly growing season catchment scale ( 150 km2) hydrological response of a boreal headwater peatland complex with sporadic permafrost in the southern Northwest Territories. The corresponding water budget components at subcatchment scale ( 0.1 km2) were obtained from concurrent cutthroat flume runoff and eddy covariance evapotranspiration measurements. The highly significant linear relationships for runoff (r2=0.64) and evapotranspiration (r2=0.75) between subcatchment and catchment scales suggest that the mineral upland-dominated downstream portion of the catchment acts hydrologically similar to the headwater portion dominated by boreal peatland complexes. Breakpoint analysis in combination with moving window statistics on multi

    11. Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases.

      Science.gov (United States)

      Chong, Michael; O'Donnell, Martin; Thijs, Vincent; Dans, Antonio; López-Jaramillo, Patricio; Gómez-Arbeláez, Diego; Mondo, Charles; Czlonkowska, Anna; Skowronska, Marta; Oveisgharan, Shahram; Yusuf, Salim; Paré, Guillaume

      2017-08-01

      Mendelian strokes are rare genetic disorders characterized by early-onset small-vessel stroke. Although extensively studied among families with syndromic features, whether these genes affect risk among sporadic cases is unknown. We sequenced 8 genes responsible for Mendelian stroke in a case-control study of sporadic stroke cases (≤70 years). Participants included 1251 primary stroke cases of small-vessel pathology (637 intracerebral hemorrhage and 614 small-vessel ischemic stroke cases) and 1716 controls from the INTERSTROKE study (Study of the Importance of Conventional and Emerging Risk Factors of Stroke in Different Regions and Ethnic Groups of the World). Overall, the prevalence of canonical disease-causing mutations was 0.56% in cases and 0.23% in controls (odds ratio=1.89; 95% confidence interval, 0.54-7.57; P =0.33). CADASIL (Cerebral Autosomal Dominant Arteriopathies with Subcortical Infarcts and Leukoencephalopathies) mutations were more frequent among cases (0.48%) than controls (0.23%) but were not significantly associated with stroke risk (odds ratio=2.03; 95% confidence interval, 0.58-8.02; P =0.27). Next, we included all rare nonsynonymous mutations to investigate whether other types of mutations may contribute to stroke risk. Overall, 13.5% of cases and 14.2% of controls were carriers of at least one rare nonsynonymous mutation among the 8 Mendelian stroke genes. Mutation carriers were not at elevated risk of stroke (odds ratio=0.93; 95% confidence interval, 0.75-1.16; P =0.55). In the absence of syndromic features and family history of stroke, screening for Mendelian mutations among small-vessel stroke patients is unlikely to have high diagnostic utility. © 2017 American Heart Association, Inc.

    12. Un nuevo caso de resistencia a un bismuto oleo-soluble: curación por una sal insoluble

      Directory of Open Access Journals (Sweden)

      Ch. Petouraud

      1934-07-01

      Full Text Available Acabamos de observar, simple coincidencia o efecto de la casualidad, un nuevo caso de bismuto resistencia que recuerda al que uno de nosotros encontró recientemente con el Profesor Nicolas. S. Joseph, 24 años, es visto por primera vez el 6 de mayo de 1933, en la consulta del servicio hospitalario de Dermato-Syphiligraphie de Antiquille (ficha Nv 5886, Dr. Gaté, para accidentes secundarios típicos; roséola discreta, sifilides papulosas y córneas de las regiones palmares, ganglios supraepitrccleanos y oervicales, reacción de Wassermann muy positiva en la sangre.

    13. Nosocomial transmission of sporadic Creutzfeldt-Jakob disease: results from a risk-based assessment of surgical interventions

      DEFF Research Database (Denmark)

      de Pedro-Cuesta, Jesús; Mahillo-Fernández, Ignacio; Rábano, Alberto

      2011-01-01

      Evidence of surgical transmission of sporadic Creutzfeldt-Jakob disease (sCJD) remains debatable in part due to misclassification of exposure levels. In a registry-based case-control study, the authors applied a risk-based classification of surgical interventions to determine the association...

    14. Identification of chromosome aberrations in sporadic microsatellite stable and unstable colorectal cancers using array comparative genomic hybridization

      DEFF Research Database (Denmark)

      Jensen, Thomas Dyrsø; Li, Jian; Wang, Kai

      2011-01-01

      cancers constitute approximately 85% of sporadic cases, whereas microsatellite unstable (MSI) cases constitute the remaining 15%. In this study, we used array comparative genomic hybridization (aCGH) to identify genomic hotspot regions that harbor recurrent copy number changes. The study material...

    15. Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations

      NARCIS (Netherlands)

      Lakhani, S. R.; Jacquemier, J.; Sloane, J. P.; Gusterson, B. A.; Anderson, T. J.; van de Vijver, M. J.; Farid, L. M.; Venter, D.; Antoniou, A.; Storfer-Isser, A.; Smyth, E.; Steel, C. M.; Haites, N.; Scott, R. J.; Goldgar, D.; Neuhausen, S.; Daly, P. A.; Ormiston, W.; McManus, R.; Scherneck, S.; Ponder, B. A.; Ford, D.; Peto, J.; Stoppa-Lyonnet, D.; Bignon, Y. J.; Struewing, J. P.; Spurr, N. K.; Bishop, D. T.; Klijn, J. G.; Devilee, P.; Cornelisse, C. J.; Lasset, C.; Lenoir, G.; Barkardottir, R. B.; Egilsson, V.; Hamann, U.; Chang-Claude, J.; Sobol, H.; Weber, B.; Stratton, M. R.; Easton, D. F.

      1998-01-01

      BACKGROUND: We have previously demonstrated that breast cancers associated with inherited BRCA1 and BRCA2 gene mutations differ from each other in their histopathologic appearances and that each of these types differs from breast cancers in patients unselected for family history (i.e., sporadic

    16. Mutational analysis using Sanger and next generation sequencing in sporadic spindle cell hemangiomas: A study of 19 cases

      NARCIS (Netherlands)

      Broek, R.W. ten; Bekers, E.M.; Leng, W.W.J. de; Strengman, E.; Tops, B.B.J.; Kutzner, H.; Leeuwis, J.W.; Gorp, J.M. van; Creytens, D.H.; Mentzel, T.; Diest, P.J. van; Eijkelenboom, A.; Flucke, U.

      2017-01-01

      Spindle cell hemangioma (SCH) is a distinct vascular soft-tissue lesion characterized by cavernous blood vessels and a spindle cell component mainly occurring in the distal extremities of young adults. The majority of cases harbor heterozygous mutations in IDH1/2 sporadically or rarely in

    17. Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma

      NARCIS (Netherlands)

      H. Dannenberg (Hilde); W.N.M. Dinjens (Winand); M. Abbou; H. van Urk (Hero); B.K. Pauw; D. Mouwen; W.J. Mooi (Wolter); R.R. de Krijger (Ronald)

      2002-01-01

      textabstractPURPOSE: Recently, familial paraganglioma (PGL) was shown to be caused bymutations in the gene encoding succinate dehydrogenase subunit D (SDHD). However, the prevalence of SDHD mutations in apparently sporadic PGL is unknown. We studied the frequency and spectrum of

    18. Predictors of future growth of sporadic vestibular schwannomas obtained by history and radiologic assessment of the tumor.

      NARCIS (Netherlands)

      Artz, J.C.; Timmer, F.C.A.; Mulder, J.J.S.; Cremers, C.W.R.J.; Graamans, K.

      2009-01-01

      Management of a sporadic vestibular schwannoma (VS) is still a subject of controversy, mainly due to distinct and unpredictable growth patterns. To embark on an appropriate therapy it is necessary to dispose of a reliable prediction about tumor progression. This study aims to design a risk profile

    19. Genetic determinants for cadmium and arsenic resistance among Listeria monocytogenes serotype 4b isolates from sporadic human listeriosis patients

      Science.gov (United States)

      In Listeria monocytogenes serotype 4b from sporadic listeriosis, heavy metal resistance was primarily encountered in certain clonal groups (ECI, ECII, ECIa). All arsenic-resistant isolates harbored the arsenic resistance cassette previously identified in pLI100; ECIa harbored additional arsenic resi...

    20. Espectroradiometría de campo del visible al infrarrojo térmico de muestras con características espectrales singulares

      OpenAIRE

      Mira Sarrió, Maria

      2015-01-01

      La calibración de sensores a bordo de satélite requiere medidas espectrales de campo simultáneas al paso del satélite. El objetivo de este trabajo es determinar y validar el protocolo óptimo para medir en el campo espectros de reflectividad (del visible al infrarrojo cercano) y emisividad (en el infrarrojo térmico) de muestras con características espectrales singulares (calcita, cuarzo, yeso y sal). Los espectrorradiómetros analizados son el Ocean Optics USB2000+ (200–1100 nm) y el

    1. O mercado de trabalho brasileiro é segmentado? Alterações no perfil da informalidade e nos diferenciais de salários nas décadas de 1980 e 1990

      Directory of Open Access Journals (Sweden)

      Andréa Zaitune Curi

      2006-12-01

      Full Text Available Neste artigo examinamos o comportamento do mercado de trabalho formal e informal no Brasil nas últimas duas décadas, utilizando dados longitudinais da Pesquisa Mensal de Emprego para 6 regiões metropolitanas no Brasil. Os resultados mostram que a redução da formalidade no Brasil decorreu, principalmente, do aumento das transições do setor formal para o informal e devido à redução da taxa de saída do desemprego para o setor formal, que ocorreu principalmente entre os mais escolarizados vivendo na região metropolitana de São Paulo e que estavam desempregados há mais de três meses. Além disto, os resultados mostram que a rotatividade entre o setor informal e formal é bastante elevada e que a probabilidade de saída do desemprego ou do setor informal diminui com o tempo de permanência na situação inicial. O diferencial de salários entre o setor formal e o informal, após o controle pelas características não-observáveis dos trabalhadores, era de apenas 10% na década de 1980 e declinou para cerca de 5% na década de 1990. Isto indica que a segmentação no mercado de trabalho brasileiro é muito baixa, o que o aproxima de um mercado competitivo.In this paper we examine the determinants of the mobility of Brazilian workers from the formal sector to informality, self-employment and unemployment, using longitudinal data from Monthly household surveys for 6 metropolitan regions. The results show that the reduction in formality was due to an increase in the transitions from the formal to the informal sector and to a decline in the exits from unemployment to the formal sector. Moreover, sector turn-over in Brazil is quite high and the transitions from unemployment and from the informal sector are time dependent. Finally, the wage differentials between workers in the formal and in the informal sector, after controlling for workers fixed effects was 10% in the 1980s and declined to about 5% in the 1990s, showing that the Brazilian

    2. Abu al-Layth al-Libi

      Science.gov (United States)

      2015-02-01

      opponents were the stringent militants in the Khaldan camp and its Institute of the Faith Brigades (Ma`had Kata`ib al-Iman), where the virulent ...local fighter remembered that al-Libi used to live together with Hamza al- Rabi `a, the former head of al-Qa`ida’s external operations, and Abu Khabbab

    3. The survival of patients with Stage III Colon Cancer is improved in HNPCC compared with sporadic cases. A Danish registry based study

      DEFF Research Database (Denmark)

      Brixen, Line Merrild; Bernstein, Inge Thomsen; Bülow, Steffen

      2013-01-01

      AIM: Patients with hereditary non-polyposis colorectal cancer (HNPCC) seem to have a better prognosis than those with sporadic colon cancer (CC)s. The aim was to compare survival after stage III CC in patients with HNPCC with those having sporadic CC. METHOD: 230 patients with hereditary cancer...... history of cancer. Patient characteristics, geographic differences and survival data were analyzed. RESULTS: The overall survival (OS) was better in HNPCC patients compared to sporadic CC after stratification for sex and age (p=0.02; CI 1.04-1.7). The 5-year survival was 70% in HNPCC patients compared...... from The Danish HNPCC-Register and 3557 patients with sporadic CC from The Danish Colorectal Cancer Database, diagnosed during May 2001-December 2008 were included. HNPCC patients were classified according to Mismatch Repair mutation status and family pedigree. Sporadic cases had no known family...

    4. Relación entre la ingesta de sal y la presión arterial en pacientes hipertensos

      Directory of Open Access Journals (Sweden)

      Lucía Navas Santos

      2016-03-01

      Full Text Available Introducción: La hipertensión arterial resistente o refractaria al tratamiento supone un serio problema de salud pública y aunque, no están claros los mecanismos por los que se produce esta resistencia, se sospecha que el consumo de sodio puede jugar un papel importante en el mantenimiento de la misma. Objetivo: Determinar si los pacientes con hipertensión resistente toman sodio oculto en los alimentos ingeridos en su dieta; así como relacionar este consumo con sus hábitos dietéticos. Pacientes y Métodos: Se estudiaron 32 pacientes con una media de edad de 74,25±6,38 años, (65,6% hombres y 34,4% mujeres. Se realizó un estudio descriptivo y transversal mediante entrevista estructurada sobre consumo de alimentos. Se estudió: edad, género, estado civil, presión arterial, responsable de la elaboración de las comidas, índice de masa corporal (IMC, consumo de sodio oculto en la dieta y percepción de los pacientes sobre su consumo de sodio. Resultados: Se encontró una ingesta media real de 3693,56±2330,97 mg de sodio. En el 59,4% de los casos las comidas las elaboraba otra persona diferente al paciente, siendo mayor el consumo de sodio en estos pacientes (3.709,44±529,37 frente a 3.677,69±649,27 mg. Respecto a la percepción sobre la cantidad de sodio ingerida, el 9,4% decían no tomar nada, el 56,3% poco, el 21,9% lo normal y el 12,5% bastante. Los que decían no tomar nada de sodio y lo normal, el mayor aporte lo hacían durante la cena; y los que decían tomar poco sodio y bastante, era en el almuerzo. Se encontró correlación significativa entre ingesta de sodio total e IMC (r=0,411, p & lt0,05. No se encontró relación entre consumo de sodio y hipertensión arterial. Conclusiones: Al menos en la muestra estudiada, no existe relación entre ingesta de sodio y presión arterial; existe una relación directa entre consumo de sodio y la persona que cocina. Por otro lado, la percepción que tienen estos pacientes respecto a su

    5. Need for coordinated programs to improve global health by optimizing salt and iodine intake Necesidad de programas coordinados para mejorar la salud a escala mundial mediante la optimización de la ingesta de sal y yodo

      Directory of Open Access Journals (Sweden)

      Norm R. C. Campbell

      2012-10-01

      Full Text Available High dietary salt is a major cause of increased blood pressure, the leading risk for death worldwide. The World Health Organization (WHO has recommended that salt intake be less than 5 g/day, a goal that only a small proportion of people achieve. Iodine deficiency can cause cognitive and motor impairment and, if severe, hypothyroidism with serious mental and growth retardation. More than 2 billion people worldwide are at risk of iodine deficiency. Preventing iodine deficiency by using salt fortified with iodine is a major global public health success. Programs to reduce dietary salt are technically compatible with programs to prevent iodine deficiency through salt fortification. However, for populations to fully benefit from optimum intake of salt and iodine, the programs must be integrated. This review summarizes the scientific basis for salt reduction and iodine fortification programs, the compatibility of the programs, and the steps that need to be taken by the WHO, national governments, and nongovernmental organizations to ensure that populations fully benefit from optimal intake of salt and iodine. Specifically, expert groups must be convened to help countries implement integrated programs and context-specific case studies of successfully integrated programs; lessons learned need to be compiled and disseminated. Integrated surveillance programs will be more efficient and will enhance current efforts to optimize intake of iodine and salt. For populations to fully benefit, governments need to place a high priority on integrating these two important public health programs.El alto contenido de sal en la dieta es una causa principal de incremento de la presión arterial, el principal factor de riesgo de muerte a escala mundial. La Organización Mundial de la Salud (OMS ha recomendado que el consumo de sal sea inferior a 5 g/d, una meta que solo logran una pequeña proporción de personas. La falta de yodo puede causar deficiencia cognoscitiva y

    6. Trastorno de deficit de atención e hiperactividad en el salón de clases

      OpenAIRE

      González Acosta, Edder

      2006-01-01

      Los Capítulos I y II define el TDAH, utilizando como marcos de referencia el Manual de Diagnóstico y Estadístico de los Desórdenes Mentales de la AAP, enfoques de investigadores y organizaciones. El Capítulo III y IV tratan del proceso de evaluación y tratamiento. El Capítulo V describe la metodología de la investigación. El Capítulo VI presenta los hallazgos de la investigación sobre el conocimiento y las actitudes de los maestros de escuela pública y privada con relación al TDAH. El Capít...

    7. Geo-diversity and geo-materials in the region of Rabat-Salé-Zemmour-Zaer: Characterization and Rationalization of Utilization

      Science.gov (United States)

      Belhaj, Siham; Bahi, Lahcen; Akhssas, Ahmed

      2016-04-01

      The Rabat-Salé-Zemmour-Zaer (RSZZ) is distinguished by a rich geology is varied. Outcrops are found in both the Paleozoic basement, especially along the major wadis in the area and a fairly extensive coverage postpaléozoïque and locally very thick. It offers a wide variety of petrographic facies some of which the construction of geomaterials value (GMC), very solicited by the construction sector and public works (BTP). Among the most important GMC furniture and beds of RSZZ: - The sands. They are a fundamental component for the preparation of mortar and hydraulic concrete. They also enter into the composition of adobe and are used for the foundation of shoes. -The Clays. They are mainly used by ceramists (industrial units manufacturing tiles). The red clay of Triassic age are most represented in the Region in deposits whose thickness can reach several tens of meters. -The Calcarenite. : It is the most used local stone in building the cities of Rabat and Salé, where she is well known as the Stone of Salé. The same stone is used in the manufacture of lime through calcination. Geologically, it is a calcareous sandstone, of Pliocene-Quaternary age that is in the form of a dune system that runs parallel to the Atlantic coast. -The Limestones: These massive limestones and more or less metamorphosed dolomitized Devonian. These limestone outcrop along major wadis of the region (Akrech, Ykem, ...) as layers sometimes quite thick and more or less tectonized. According to localities, these limestones show a wide range of colors (white, gray, black pink) and a wide variety of structures (colorful, beaded, veined, textured) - The quartzites. They correspond to Ordovician bars that appear quite often emerged in relation to other surrounding formations because of their high resistance to erosion. The rock is generally brownish gray and shows a very high hardness related to its siliceous. Local and temporary holdings allow blocks extraction for various public works

    8. ALS-linked mutant SOD1 proteins promote Aβ aggregates in ALS through direct interaction with Aβ.

      Science.gov (United States)

      Jang, Ja-Young; Cho, Hyungmin; Park, Hye-Yoon; Rhim, Hyangshuk; Kang, Seongman

      2017-11-04

      Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive degeneration of motor neurons. Aggregation of ALS-linked mutant Cu/Zn superoxide dismutase (SOD1) is a hallmark of a subset of familial ALS (fALS). Recently, intracellular amyloid-β (Aβ) is detected in motor neurons of both sporadic and familial ALS. We have previously shown that intracellular Aβ specifically interacts with G93A, an ALS-linked SOD1 mutant. However, little is known about the pathological and biological effect of this interaction in neurons. In this study, we have demonstrated that the Aβ-binding region is exposed on the SOD1 surface through the conformational changes due to misfolding of SOD1. Interestingly, we found that the intracellular aggregation of Aβ is enhanced through the direct interaction of Aβ with the Aβ-binding region exposed to misfolded SOD1. Ultimately, increased Aβ aggregation by this interaction promotes neuronal cell death. Consistent with this result, Aβ aggregates was three-fold higher in the brains of G93A transgenic mice than those of non Tg. Our study provides the first direct evidence that Aβ, an AD-linked factor, is associated to the pathogenesis of ALS and provides molecular clues to understand common aggregation mechanisms in the pathogenesis of neurodegenerative diseases. Furthermore, it will provide new insights into the development of therapeutic approaches for ALS. Copyright © 2017 Elsevier Inc. All rights reserved.

    9. Salón social del club natación Metropole Las Palmas de Gran Canaria, España

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      López Díaz, Luis

      1978-02-01

      Full Text Available This hall is the first stage of an ambitious programme of reforms and extensions to the Metropole Swimming Club which, apart from increasing and diversifying the number of the sports installations, includes others of an eminently social nature. The numerous conditioning factors which limited the construction of the hall from the beginning, both regarding the surface —rectangular and extremely elongated, messuring 13 x 13 m, and height— about 3 m, and regarding its situation within the whole, lead to the arrangement of three articulated atmospheres within a single space, covered with thin reinforced concrete warped membranes, as the only solution capable, on the one hand, of reducing the coldness and stiffness of the structure imposed, and on the other, of satisfactorily answering the design bases which prefixed multifunctionality, transparency and representativity of the building. A final premiss which called for the integration of the work in a surrounding gardaned environment was solved by the complete glazing of the frontages and the light tones of the finishing materials.

      Este salón es la primera fase de un ambicioso programa de reformas y ampliaciones para el Club Natación Metropole que, además de aumentar y diversificar el número de las instalaciones deportivas, incluye otras de carácter eminentemente social. Los numerosos condicionantes que desde un principio limitaron la construcción del salón, tanto en cuanto a superficie —rectángulo sumamente alargado de 13 x 33 m— y altura —unos 3 m—, como a su situación dentro del conjunto, condujeron a la organización de tres ambientes articulados dentro de un espacio único, cubiertos con sendas membranas delgadas de hormigón armado, de formas alabeadas, como única solución capaz, por una parte, de reducir la frialdad y rigidez de la conformación impuesta, y por otra, de responder satisfactoriamente a las bases de diseño que prefijaban la multifuncionalidad

    10. Proximity to Parental Symptom Onset and Amyloid-β Burden in Sporadic Alzheimer Disease.

      Science.gov (United States)

      Villeneuve, Sylvia; Vogel, Jacob W; Gonneaud, Julie; Pichet Binette, Alexa; Rosa-Neto, Pedro; Gauthier, Serge; Bateman, Randall J; Fagan, Anne M; Morris, John C; Benzinger, Tammie L S; Johnson, Sterling C; Breitner, John C S; Poirier, Judes

      2018-02-26

      Alzheimer disease (AD) develops during several decades. Presymptomatic individuals might be the best candidates for clinical trials, but their identification is challenging because they have no symptoms. To assess whether a sporadic parental estimated years to symptom onset calculation could be used to identify information about amyloid-β (Aβ) levels in asymptomatic individuals with a parental history of AD dementia. This cohort study analyzed Aβ1-42 in cerebrospinal fluid (CSF) specimens from 101 cognitively normal individuals who had a lumbar puncture as part of the Presymptomatic Evaluation of Novel or Experimental Treatments for Alzheimer Disease (PREVENT-AD) cohort from September 1, 2011, through November 30, 2016 (374 participants were enrolled in the cohort during this period). The study estimated each participant's proximity to his/her parent's symptom onset by subtracting the index relative's onset age from his/her current age. The association between proximity to parental symptom onset and Aβ levels was then assessed using apolipoprotein E ε4 (APOE4) status and sex as interactive terms. These analyses were performed again in 2 independent cohorts using CSF and Pittsburgh compound B carbon 11-labeled positron emission tomography (PIB-PET) Aβ biomarkers: the Adult Children Study (ACS) and the Wisconsin Registry for Alzheimer Prevention (WRAP) cohorts. The association between proximity to parental symptom onset and Aβ burden in asymptomatic individuals with a parental history of sporadic AD. The present analysis included a subset of 101 PREVENT-AD individuals (mean [SD] age, 61.8 [5.1] years; 30 [29.7%] male), 128 ACS participants (112 participants underwent CSF measurement: mean [SD] age, 63.4 [5.1] years; 31 [27.7%] male; and 107 underwent PIB-PET: mean [SD] age, 64.6 [5.3] years; 27 [25.2%] male), and 135 WRAP participants (85 participants underwent CSF measurement: mean [SD] age, 59.9 [6.0] years; 27 [31.8%] male; and 135 underwent PIB-PET: mean

    11. Glycoform-Selective Prion Formation in Sporadic and Familial Forms of Prion Disease

      Science.gov (United States)

      Xiao, Xiangzhu; Yuan, Jue; Haïk, Stéphane; Cali, Ignazio; Zhan, Yian; Moudjou, Mohammed; Li, Baiya; Laplanche, Jean-Louis; Laude, Hubert; Langeveld, Jan; Gambetti, Pierluigi; Kitamoto, Tetsuyuki; Kong, Qingzhong; Brandel, Jean-Philippe; Cobb, Brian A.; Petersen, Robert B.; Zou, Wen-Quan

      2013-01-01

      The four glycoforms of the cellular prion protein (PrPC) variably glycosylated at the two N-linked glycosylation sites are converted into their pathological forms (PrPSc) in most cases of sporadic prion diseases. However, a prominent molecular characteristic of PrPSc in the recently identified variably protease-sensitive prionopathy (VPSPr) is the absence of a diglycosylated form, also notable in familial Creutzfeldt-Jakob disease (fCJD), which is linked to mutations in PrP either from Val to Ile at residue 180 (fCJDV180I) or from Thr to Ala at residue 183 (fCJDT183A). Here we report that fCJDV180I, but not fCJDT183A, exhibits a proteinase K (PK)-resistant PrP (PrPres) that is markedly similar to that observed in VPSPr, which exhibits a five-step ladder-like electrophoretic profile, a molecular hallmark of VPSPr. Remarkably, the absence of the diglycosylated PrPres species in both fCJDV180I and VPSPr is likewise attributable to the absence of PrPres glycosylated at the first N-linked glycosylation site at residue 181, as in fCJDT183A. In contrast to fCJDT183A, both VPSPr and fCJDV180I exhibit glycosylation at residue 181 on di- and monoglycosylated (mono181) PrP prior to PK-treatment. Furthermore, PrPV180I with a typical glycoform profile from cultured cells generates detectable PrPres that also contains the diglycosylated PrP in addition to mono- and unglycosylated forms upon PK-treatment. Taken together, our current in vivo and in vitro studies indicate that sporadic VPSPr and familial CJDV180I share a unique glycoform-selective prion formation pathway in which the conversion of diglycosylated and mono181 PrPC to PrPSc is inhibited, probably by a dominant-negative effect, or by other co-factors. PMID:23527023

    12. SEEK-2 (Sporadic-E Experiment over Kyushu 2 − Project Outline, and Significance

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      R. Pfaff

      2005-10-01

      Full Text Available SEEK-2 (Sporadic-E Experiment over Kyushu 2 is an observation campaign to study the spatial structure of the field-aligned irregularity (FAI and sporadic-E(Es-layer by means of two sounding rockets and a ground-based observation network with radars and optical instruments. The experiment was successfully conducted on 3 August 2002, with successive launches of two sounding rockets from the Uchinoura Space Center (USC of the Japan Aerospace Exploration Agency (JAXA. The timing of the experiment was carefully selected, while intense quasi-periodic (QP echoes were observed with two radars in Tanegashima. The main Es-layer, with its double-layered structure, was observed at altitudes of 103–105 km, the presence of which was well accounted for by the ion accumulation due to neutral-wind shear. Several minor peaks were detected in the electron density profiles at altitudes of up to 130 km. The intensity of the electric field was 5–10 mV/m and showed intense fluctuations below 110 km. Wave-like variation of the electric field was seen above 110 km. From radar experiments, we found that QP echoes appeared around 105 km, which agreed well with the main Es-layer height. The QP echoes propagated to the west-northwest, with frontal structures elongated from north-northeast to south-southwest. Radar observations conduced throughout the SEEK-2 period, on the other hand, showed that frontal structures of the QP echoes were most frequently propagated to the southeast. This result was consistent with the direction of gravity-wave propagation observed with the OH imager during the same period. The rocket beacon experiment with the Es-layers revealed the spatial structure of the plasma densities. On the basis of these results and those from SEEK-1 in 1996, we examined the structures of the nighttime mid-latitude E-region. We concluded that the QP echoes reflect the horizontal structures of the main Es-layers. The source of the structures was not clearly

    13. Análisis del papel del turismo residencial en la cabecera municipal de Ixtapan de la Sal, Estado de México

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      Esteban Arias

      2007-01-01

      Full Text Available El presente artículo es resultado de un trabajo de tesis para la obtención del título de licenciatura. El propósito del estudio fue analizar los efectos que genera el turismo residencial en Ixtapan de la Sal a fin de conocer de manera puntual la incidencia en el desarrollo turístico de este destino. El método aplicado en este trabajo, fue el clínico y se empleó con la finalidad de conocer la situación actual del turismo residencial. Así también, con el método deductivo emanado de la revisión teórica de la propuesta de Daniel Hiernaux en su obra Segundas Residencias fue posible lograr confrontar su teoría con los datos recogidos en campo. A partir de la década de los cuarenta, el turismo en México ha presentado distintas modalidades: el turismo de sol y playa; el turismo religioso o el ecoturismo; particularmente, el turismo residencial es una tendencia de reciente auge, práctica aún cuestionada como modalidad turística por no hacer uso de los servicios de alojamiento hotelero como lo hace el turismo convencional, pero que tiene repercusiones importantes en las comunidades anfitrionas, como es el caso de estudio.

    14. Late Holocene Changes in Vegetation of the Mrągowo Lakeland (NE Poland as Registered in the Pollen Record from Lake Salęt

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      Szal Marta

      2014-04-01

      Full Text Available Pollen analysis of sediments from the upper part of bottom deposits from Lake Salęt allowed reconstruction of main stages of the Late Holocene vegetation transformation in the Mrągowo Lake District (from ca. 3600 cal. years BC and to correlate some of these changes with immigration and economic activity of local human groups. Significant spreading of secondary semi-natural birch forest, development of horn beam forest and increasing importance of anthropogenic open communities were the most characteristic features of vegetation evolution. A definite break down of elm took place between 2900 and 2500 cal. years BC, slightly after increased contribution of birch in wood lands. Disappearance of hazel around 1200 cal. years BC, accompanied by expansion of horn beam has been observed and should be linked with activity of the Ząbie-Szestno type culture and the Lusatian culture tribes during the Bronze Age, but not with a climate change. Considerable intensification of settlement processes recorded in the younger part of the Subatlantic chronozone was one of the important reasons that were responsible for quick changes in forest structure. Strong and continued deforestation started as early as the end of the 10th century AD and was substantially intensified in the first half of the 13th century.

    15. SARC006: Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated Chemotherapy-Naive Malignant Peripheral Nerve Sheath Tumors

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      Christine S. Higham

      2017-01-01

      Full Text Available Background. Worse chemotherapy response for neurofibromatosis type 1- (NF1- associated compared to sporadic malignant peripheral nerve sheath tumors (MPNST has been reported. Methods. We evaluated the objective response (OR rate of patients with AJCC Stage III/IV chemotherapy-naive NF1 MPNST versus sporadic MPNST after 4 cycles of neoadjuvant chemotherapy, 2 cycles of ifosfamide/doxorubicin, and 2 cycles of ifosfamide/etoposide. A Simon optimal two-stage design was used (target response rate 40%. Results. 34 NF1 (median age 33 years and 14 sporadic (median age 40 years MPNST patients enrolled. Five of 28 (17.9% evaluable NF1 MPNST patients had a partial response (PR, as did 4 of 9 (44.4% patients with sporadic MPNST. Stable disease (SD was achieved in 22 NF1 and 4 sporadic MPNST patients. In both strata, results in the initial stages met criteria for expansion of enrollment. Only 1 additional PR was observed in the expanded NF1 stratum. Enrollment was slower than expected and the trial closed before full accrual. Conclusions. This trial was not powered to detect differences in response rates between NF1 and sporadic MPNST. While the OR rate was lower in NF1 compared to sporadic MPNST, qualitative responses were similar, and disease stabilization was achieved in most patients.

    16. The multi-dimensional roles of astrocytes in ALS.

      Science.gov (United States)

      Yamanaka, Koji; Komine, Okiru

      2018-01-01

      Despite significant progress in understanding the molecular and genetic aspects of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease characterized by the progressive loss of motor neurons, the precise and comprehensive pathomechanisms remain largely unknown. In addition to motor neuron involvement, recent studies using cellular and animal models of ALS indicate that there is a complex interplay between motor neurons and neighboring non-neuronal cells, such as astrocytes, in non-cell autonomous neurodegeneration. Astrocytes are key homeostatic cells that play numerous supportive roles in maintaining the brain environment. In neurodegenerative diseases such as ALS, astrocytes change their shape and molecular expression patterns and are referred to as reactive or activated astrocytes. Reactive astrocytes in ALS lose their beneficial functions and gain detrimental roles. In addition, interactions between motor neurons and astrocytes are impaired in ALS. In this review, we summarize growing evidence that astrocytes are critically involved in the survival and demise of motor neurons through several key molecules and cascades in astrocytes in both sporadic and inherited ALS. These observations strongly suggest that astrocytes have multi-dimensional roles in disease and are a viable therapeutic target for ALS. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

    17. Defining sporadic Creutzfeldt-Jakob disease strains and their transmission properties

      Science.gov (United States)

      Bishop, Matthew T.; Will, Robert G.; Manson, Jean C.

      2010-01-01

      The biological determinants of the phenotypic variation in sporadic Creutzfeldt-Jakob disease (sCJD) are unknown. To categorize sCJD cases, the prion protein (PrP) codon 129 genotype and the biochemical characteristics of the disease-associated form of PrP (PrPSc) can be combined to form six subgroups (MM1, MM2, MV1, MV2, VV1, and VV2). This classification largely correlates with the known variation in the clinical and pathological features of sCJD, with the MM1 and MV1 cases representing the “classic” phenotype of sCJD. To address how this classification relates to different strains of sCJD we have inoculated each subgroup of sCJD to a panel of mice expressing different forms of the human PRNP gene (129MM, 129VV, and 129MV). We have established that all subtypes are transmissible to at least one genotype of mouse, and both agent and host factors determine transmission efficiency and the form of PrPSc deposited in the brain. Moreover, we have identified four distinct strains of sCJD using our in vivo strain typing panel. PMID:20547859

    18. Regulation of human cerebrospinal fluid malate dehydrogenase 1 in sporadic Creutzfeldt-Jakob disease patients.

      Science.gov (United States)

      Schmitz, Matthias; Llorens, Franc; Pracht, Alexander; Thom, Tobias; Correia, Ângela; Zafar, Saima; Ferrer, Isidre; Zerr, Inga

      2016-11-14

      The identification of reliable diagnostic biomarkers in differential diagnosis of neurodegenerative diseases is an ongoing topic. A previous two-dimensional proteomic study on cerebrospinal fluid (CSF) revealed an elevated level of an enzyme, mitochondrial malate dehydrogenase 1 (MDH1), in sporadic Creutzfeldt-Jakob disease (sCJD) patients. Here, we could demonstrate the expression of MDH1 in neurons as well as in the neuropil. Its levels are lower in sCJD brains than in control brains. An examination of CSF-MDH1 in sCJD patients by ELISA revealed a significant elevation of CSF-MDH1 levels in sCJD patients (independently from the PRNP codon 129 MV genotype or the prion protein scrapie (PrP Sc ) type) in comparison to controls. In combination with total tau (tau), CSF-MDH1 detection exhibited a high diagnostic accuracy for sCJD diagnosis with a sensitivity of 97.5% and a specificity of 95.6%. A correlation study of MDH1 level in CSF with other neurodegenerative marker proteins revealed a significant positive correlation between MDH1 concentration with tau, 14-3-3 and neuron specific enolase level. In conclusion, our study indicated the potential of MDH1 in combination with tau as an additional biomarker in sCJD improving diagnostic accuracy of tau markedly.

    19. Psychiatric symptoms in patients with sporadic Creutzfeldt-Jakob disease in Germany.

      Science.gov (United States)

      Krasnianski, Anna; Bohling, Geeske T; Harden, Markus; Zerr, Inga

      2015-09-01

      Psychiatric symptoms in sporadic Creutzfeldt-Jakob disease (sCJD) are still not sufficiently evaluated. To describe psychiatric symptoms in sCJD with respect to molecular subtype. Patients in this retrospective study were classified according to established diagnostic criteria. 248 sCJD patients with known molecular subtype were recruited from January 1993 to December 2004 and investigated. Psychiatric symptoms were defined according to Möller and colleagues and the AMDP system (Study Group for Methods and Documentation in Psychiatry) and were collected by direct examination by study physicians or extracted from medical documentation. Our data were compared with published data on variant CJD (vCJD). Psychiatric symptoms were common in sCJD patients (90%) and mostly found already at the disease onset (agitation in 64% of the patients, hallucinations in 45%, anxiety in 50%, depression in 37%). All psychiatric symptoms but illusions were found early in the disease course. Psychiatric symptoms in sCJD were less frequent than in vCJD. We provide the first detailed analysis of psychiatric symptoms in a large group of patients with sCJD with respect to differences concerning frequency and time point of occurrence of psychiatric symptoms between molecular subtypes. These data suggest that psychiatric symptoms occurring early in the disease course are common not only in vCJD but also in other CJD types. © Copyright 2015 Physicians Postgraduate Press, Inc.

    20. Sporadic Creutzfeldt–Jakob disease with cerebellar ataxia at onset in the UK

      Science.gov (United States)

      Cooper, S A; Murray, K L; Heath, C A; Will, R G; Knight, R S G

      2006-01-01

      Objective To determine the frequency, in the UK, of sporadic Creutzfeldt–Jakob Disease (sCJD) with a cerebellar ataxic onset, and to describe the clinical features of the syndrome. Methods A retrospective review of autopsy‐proved cases of sCJD cases in the UK, 1990–2005, identifying those presenting with cerebellar features without early cognitive decline. Results 29 of 618 (5%) patients with sCJD had an isolated cerebellar onset. Mean illness duration was 9 months. Subsequently, 21 (72%) developed myoclonus and 23 (79%) developed pyramidal features. Magnetic resonance imaging showed high signal in the basal ganglia in 11 of 14 (79%) patients. 7 of 15 (47%) patients were valine homozygotic at prion protein gene (PRNP)‐129. Only 8 (28%) cases were referred to the surveillance unit after death. Conclusion A better definition of sCJD presenting with an isolated cerebellar syndrome might improve future case recognition and contribute to the determination of its cause. PMID:16835290

    1. Towards an age-dependent transmission model of acquired and sporadic Creutzfeldt-Jakob disease.

      Science.gov (United States)

      de Pedro-Cuesta, Jesús; Mahillo-Fernandez, Ignacio; Calero, Miguel; Rábano, Alberto; Cruz, Mabel; Siden, Åke; Martínez-Martín, Pablo; Laursen, Henning; Ruiz-Tovar, María; Mølbak, Kåre

      2014-01-01

      Sporadic Creutzfeldt-Jakob disease (sCJD) might be transmitted by surgery. The purpose of this study was to investigate potential susceptibility to sCJD from surgery at juvenile age and in early adulthood. From Danish and Swedish national registries we identified 167 definite and probable sCJD cases with onset from 1987 through 2003, and 835 age-, sex- and residence-matched controls along with their surgical histories. Main, anatomically or etiologically classified surgical procedures followed by a ≥20-year lag were analyzed using logistic regression, and stratified by age at first-registered surgical discharge. The risk of having a diagnosis of CJD depended strongly on age at first surgery with odds ratio (OR) of 12.80 (95% CI 2.56-64.0) in patients <30 years, 3.04 (95% 1.26-7.33) in 30-39 years, and 1.75 (95% CI 0.89-3.45) in ≥40 years, for anatomically classified surgical procedures. Similar figures were obtained for etiologically classified surgical procedures. Risk of surgical-acquired sCJD depends on age at exposure; this pattern is similar to age-specific profiles reported for CJD accidentally transmitted by human pituitary-derived growth hormone and susceptibility curves for variant CJD estimated after adjustment for dietary exposure to bovine spongiform encephalopathy. There might be an age-at-exposure-related susceptibility to acquire all CJD forms, including sCJD from routine surgery.

    2. Subtype and regional regulation of prion biomarkers in sporadic Creutzfeldt-Jakob disease.

      Science.gov (United States)

      Llorens, Franc; Zafar, Saima; Ansoleaga, Belén; Shafiq, Mohsin; Blanco, Rosi; Carmona, Marga; Grau-Rivera, Oriol; Nos, Carlos; Gelpí, Ellen; Del Río, José Antonio; Zerr, Inga; Ferrer, Isidre

      2015-08-01

      Creutzfeldt-Jakob disease (CJD) is a rapid progressive neurological disease leading to dementia and death. Prion biomarkers are altered in the cerebrospinal fluid (CSF) of CJD patients, but the pathogenic mechanisms underlying these alterations are still unknown. The present study examined prion biomarker levels in the brain and CSF of sporadic CJD (sCJD) cases and their correlation with neuropathological lesion profiles. The expression levels of 14-3-3, Tau, phospho-Tau and α-synuclein were measured in the CSF and brain of sCJD cases in a subtype- and region-specific manner. In addition, the activity of prion biomarker kinases, the expression levels of CJD hallmarks and the most frequent neuropathological sCJD findings were analysed. Prion biomarkers levels were increased in the CSF of sCJD patients; however, correlations between mRNA, total protein and their phosphorylated forms in brain were different. The observed downregulation of the main Tau kinase, GSK3, in sCJD brain samples may help to explain the differential phospho-Tau/Tau ratios between sCJD and other dementias in the CSF. Importantly, CSF biomarkers levels do not necessarily correlate with sCJD neuropathological findings. Present findings indicate that prion biomarkers levels in sCJD tissues and their release into the CSF are differentially regulated following specific modulated responses, and suggest a functional role for these proteins in sCJD pathogenesis. © 2014 British Neuropathological Society.

    3. Sporadic Creutzfeldt-Jakob disease in a native Puerto Rican patient.

      Science.gov (United States)

      Del Pilar-Morales, Esteban A; Cali, Ignazio; Chapas, Javier; Bertrán-Pasarell, Jorge; Puoti, Gianfranco; Gambetti, Pierluigi; Nobo, Ulises

      2015-03-01

      The diagnosis of Creutzfeldt-Jakob disease (CJD) is often a challenge for most physicians given its extremely low incidence and different clinico-pathological presentations. We report the case of a 56-year old patient native to Puerto Rico suspected of sporadic Creutzfeldt-Jakob disease (sCD). The symptoms at onset were notorious for bilateral cortical blindness followed by rapidly progressive cognitive decline, visual deficit, increased levels of CSF 14-3-3 and tau along with positive brain MRI and EEG, are highly indicative of CJD. The definite diagnosis was confirmed by the National Prion Disease Pathology Surveillance Center (NPDPSC), in Cleveland, Ohio, USA. Lack of genetic mutations in the prion protein (PrP) gene, widespread histopathological changes and the accumulation of scrapie PrP (PrPSc) in the brain confirmed the diagnosis of sCJD. The patient, admitted to our institution in 2011, represents the first detailed report of sCJD in a native Puerto Rican patient living in Puerto Rico.

    4. Case series of probable sporadic Creutzfeldt-Jakob disease from Eastern India

      Directory of Open Access Journals (Sweden)

      Atanu Biswas

      2013-01-01

      Full Text Available Background: Creutzfeldt-Jakob disease is a rapidly progressive, fatal, transmissible neurodegenerative disorder caused by prion protein. It is still considered rare in countries like India. This is probably due to nonavailability of autopsy studies in majority of the center. The recent European diagnostic criterion for sporadic CJD (sCJD is useful for making an early diagnosis. Objective: To report a series of patients of probable sCJD from a neurology institute of eastern India. Materials and Methods: Patients of rapidly developing dementia fulfilling the diagnostic criteria for sCJD were included. All were investigated in detail to find out any possible treatable cause including electroencephalography (EEG, magnetic resonance imaging (MRI of brain, and cerebrospinal fluid analysis. Results: A total 10 patients of probable sCJD diagnosed using the European diagnostic criterion between December 2011 and January 2013. The clinical features are consistent with other reported series. While 60% of patients had the classical EEG findings, 100% had typical MRI features. Eight patients died within a mean duration of 4.56 months from the disease onset. Conclusions: The clinical features are similar to other reported series. Our observation raises question about the prevalence of this disease in India which needs more elaborate studies.

    5. Comparative Study of Prions in Iatrogenic and Sporadic Creutzfeldt-Jakob Disease

      Science.gov (United States)

      Xiao, Xiangzhu; Yuan, Jue; Qing, Liuting; Cali, Ignazio; Mikol, Jacqueline; Delisle, Marie-Bernadette; Uro-Coste, Emmanuelle; Zeng, Liang; Abouelsaad, Mai; Gazgalis, Dimitris; Martinez, Manuel Camacho; Wang, Gong-Xian; Brown, Paul; Ironside, James W.; Gambetti, Pierluigi; Kong, Qingzhong; Zou, Wen-Quan

      2014-01-01

      Differentiating iatrogenic Creutzfeldt-Jakob disease (iCJD) from sporadic CJD (sCJD) would be useful for the identification and prevention of human-to-human prion transmission. Currently, the diagnosis of iCJD depends on identification of a recognized source of contamination to which patients have been exposed, in addition to fulfilling basic requirements for the establishment of diagnosis of CJD. Attempts to identify differences in clinical manifestations, neuropathological changes and pathological prion protein (PrPSc) between iCJD and sCJD have been unsuccessful. In the present study, using a variety of more sophisticated methods including sucrose step gradient sedimentation, conformational stability immunoassay, protein misfolding cyclic amplification (PMCA), fragment-mapping, and transmission study, we show no significant differences in gel profiles, oligomeric state, conformational stability and infectivity of PrPSc between iCJD and sCJD. However, using PMCA, we find that convertibility and amplification efficiency of PrPSc is greater in iCJD than in sCJD in a polymorphism-dependent manner. Moreover, two protease-resistant PrP C-terminal fragments (termed PrP-CTF12/13) were detected in all 9 cases of sCJD but not in 6 of 8 cases of iCJD tested in this study. The use of fragment mapping- and PMCA-based assays thus provides a means to distinguish most cases of iCJD from sCJD. PMID:25419482

    6. Medical Procedures and Risk for Sporadic Creutzfeldt-Jakob Disease, Japan, 1999–2008

      Science.gov (United States)

      Hamaguchi, Tsuyoshi; Noguchi-Shinohara, Moeko; Nozaki, Ichiro; Nakamura, Yosikazu; Sato, Takeshi; Kitamoto, Tetsuyuki; Mizusawa, Hidehiro

      2009-01-01

      To elucidate the association between medical procedures and sporadic Creutzfeldt-Jakob disease (sCJD), we analyzed medical procedures (any surgical procedure, neurosurgery, ophthalmic surgery, and blood transfusion) for patients registered by the CJD Surveillance Committee in Japan during 1999–2008. We conducted an age-stratified case–control study with 753 sCJD patients and 210 controls and a study of patients who underwent neurosurgical or ophthalmic surgical procedures at the same hospital. Although the control group was relatively small, no evidence was found that prion disease was transmitted through the investigated medical procedures before onset of sCJD. After onset of sCJD, 4.5% of the sCJD patients underwent operations, including neurosurgical for 0.8% and ophthalmic for 1.9%; no special precautions against transmission of prion diseases were taken. Fortunately, we have not identified patients with prion disease attributed to these operations. Our findings indicate that surgical procedures or blood transfusion had little effect on the incidence of sCJD. PMID:19193271

    7. Cerebrospinal fluid markers in the differentiation of molecular subtypes of sporadic Creutzfeldt-Jakob disease.

      Science.gov (United States)

      Gmitterová, K; Heinemann, U; Krasnianski, A; Gawinecka, J; Zerr, I

      2016-06-01

      Cerebrospinal fluid (CSF) analysis supports the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) when applied within an adequate clinical context. A diagnostic potential has been attributed to CSF proteins such as 14-3-3, but also tau protein, phosphorylated tau (181P) (p-tau) protein, amyloid β1-42 , S100B and neuron-specific enolase (NSE). There has been only limited information available about the contribution of CSF analysis in the differentiation of various molecular sCJD subtypes. The CSF levels of the aforementioned proteins from 73 sCJD patients with distinct molecular subtypes were determined. Differences in tau values were significant amongst the homozygous patients (MM and VV genotype) compared to the heterozygous group (P = 0.07 and P = 0.02 respectively). Significantly higher CSF tau levels (P = 0.003) and NSE (P = 0.02) but lower p-tau/tau ratio (P = 0.01) were observed in MM1 compared to MM2 patients. The p-tau/tau ratio enabled the differentiation of MV genotype with higher levels in PrP(sc) type 2 (P = 0.04). Elevation of S100B (P disease duration and clinical stage influenced the test sensitivity in all proteins. Cerebrospinal fluid protein levels might be useful in the pre-mortem differentiation of molecular sCJD subtypes when the codon 129 genotype is known. © 2016 EAN.

    8. Laminar Distribution of the Pathological Changes in Sporadic and Variant Creutzfeldt-Jakob Disease

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      R. A. Armstrong

      2011-01-01

      Full Text Available The laminar distributions of the pathological changes in the cerebral cortex were compared in the prion diseases sporadic Creutzfeldt-Jakob disease (sCJD and variant CJD (vCJD. First, in some cortical regions, the vacuolation (“spongiform change” was more generally distributed across the cortex in sCJD. Second, there was greater neuronal loss in the upper cortex in vCJD and in the lower cortex in sCJD. Third, the “diffuse” and “florid” prion protein (PrPsc deposits were more frequently distributed in the upper cortex in vCJD and the “synaptic” deposits in the lower cortex in sCJD. Fourth, there was a significant gliosis mainly affecting the lower cortex of both disorders. The data suggest that the pattern of cortical degeneration is different in sCJD and vCJD which may reflect differences in aetiology and the subsequent spread of prion pathology within the brain.

    9. Factors influencing the survival period in Japanese patients with sporadic Creutzfeldt-Jakob disease.

      Science.gov (United States)

      Iwasaki, Yasushi; Akagi, Akio; Mimuro, Maya; Kitamoto, Tetsuyuki; Yoshida, Mari

      2015-10-15

      Although Japanese cases of sporadic Creutzfeldt-Jakob disease (sCJD) generally involve longer survival periods compared to those from other countries, details regarding the factors influencing survival are unclear. To determine the influence of certain factors on survival, we retrospectively assessed 51 Japanese MM1-type sCJD patients with respect to background, clinical course, and disease management. No significant differences were found between men and women, tracheotomy and nontracheotomy patients, or patients treated in public and other types of hospitals. Although the survival period of tube-fed patients was significantly longer than that of patients who were not tube fed, survival of patients fed via a nasal tube did not differ significantly from that of gastrostomy-fed patients. The proportion of tube-fed patients was 68.6% (35/51). Disease duration was not significantly associated with age or year of onset. However, it was associated with time from onset to first recognition of myoclonus, first recognition of periodic sharp-wave complexes on electroencephalogram, and progression to the akinetic mutism state. Mechanical ventilation was not performed for any patient. Because the total disease duration increased in cases with a slowly progressive clinical course as a natural outcome, we concluded that the most crucial factor contributing to the prolonged survival of Japanese sCJD patients was tube feeding once the akinetic mutism state had been reached. Copyright © 2015 Elsevier B.V. All rights reserved.

    10. LGI1 antibody encephalopathy overlapping with sporadic Creutzfeldt-Jakob disease

      Science.gov (United States)

      Kim, Boaz; Yoo, Patrick; Sutherland, Tom; Boyd, Alison; Stehmann, Christiane; McLean, Catriona

      2016-01-01

      Objective: To report a rare case of leucine-rich, glioma inactivated 1 (LGI1) antibody–mediated autoimmune encephalopathy clinically overlapping with pathologically confirmed sporadic Creutzfeldt-Jakob disease (CJD). Methods: The patient was investigated with repeated brain MRI, EEG, CSF examination, whole-body fluorodeoxy-glucose positron emission tomography, genetic analysis of the prion protein gene (PRNP), and extensive serologic screening for paraneoplastic and autoimmune encephalopathy markers. Written informed consent was obtained from the patient's next of kin for access to clinical files for research purposes and for publication. Results: The patient was a 77-year-old man who presented with faciobrachial dystonic seizures (FBDS) secondary to LGI1 antibody–mediated autoimmune encephalopathy, with suggestive MRI findings and a complete response to treatment with combinatorial immunosuppression. Stereotactic biopsy of a nonenhancing T1 hyperintense basal ganglia lesion during the initial FBDS phase, albeit following immunosuppression, did not disclose evidence of lymphocytic inflammation. Following full remission of the FBDS, the patient manifested a rapidly progressive dementia associated with gross motor decline confirmed to be CJD at autopsy (molecular subtype VV3), with no evidence of a pathogenic PRNP mutation. Conclusions: Our patient highlights that these rare diseases are not invariably mutually exclusive and underscores the benefits of comprehensive neuropathologic examination of the brain to achieve an accurate diagnosis, especially in complex cases when the clinical trajectory dramatically deviates and a concomitant disease may need to be conscientiously considered to best explain the new clinical course. PMID:27354985

    11. Neuropsychological Symptoms in Sporadic Creutzfeldt-Jakob Disease Patients in Germany.

      Science.gov (United States)

      Krasnianski, Anna; Bohling, Geeske T; Heinemann, Uta; Varges, Daniela; Meissner, Bettina; Schulz-Schaeffer, Walter J; Reif, Andreas; Zerr, Inga

      2017-01-01

      The polymorphism at codon 129 of the prion protein gene (PRNP) and the PrPSc types 1 and 2 belong to a molecular classification of sporadic Creutzfeldt-Jakob disease (sCJD) that correlates well with the clinical and neuropathological phenotype of sCJD. The aim of the study was to perform the first detailed evaluation of neuropsychological deficits in a large group of definite sCJD patients with known molecular subtype. We analyzed neuropsychological symptoms in a cohort of 248 sCJD patients with known M129 V polymorphism of PRNP and prion protein type. Neuropsychological symptoms were very frequent in our patients (96%) and occurred as early as in the first third of the disease course. Besides amnesia and impaired attention (89% each), frontal lobe syndrome (75%), aphasia (63%), and apraxia (57%) were the most common neuropsychological deficits. There was no statistically significant difference with regard to frequency of neuropsychological symptoms between the subtypes. In MV2 and VV2 patients, the onset of neuropsychological symptoms was significantly later than in all other subtypes. We provide the first detailed analysis of neuropsychological symptoms in a large group of sCJD patients with known M129 V genotype and prion protein type. We suggest that the rate of progression of neuropsychological symptoms is subtype-specific. These data may improve the diagnosis in atypical sCJD subtypes.

    12. Peripheral Tissue Involvement in Sporadic, Iatrogenic, and Variant Creutzfeldt-Jakob Disease

      Science.gov (United States)

      Head, Mark W.; Ritchie, Diane; Smith, Nadine; McLoughlin, Victoria; Nailon, William; Samad, Sazia; Masson, Stephen; Bishop, Matthew; McCardle, Linda; Ironside, James W.

      2004-01-01

      Human prion diseases are rare fatal neurodegenerative conditions that occur as acquired, familial, or idiopathic disorders. A key event in their pathogenesis is the accumulation of an altered form of the prion protein, termed PrPSc, in the central nervous system. A novel acquired human prion disease, variant Creutzfeldt-Jakob disease, is thought to result from oral exposure to the bovine spongiform encephalopathy agent. This disease differs from other human prion diseases in its neurological, neuropathological, and biochemical phenotype. We have used immunohistochemistry and Western blot techniques to analyze the tissue distribution and biochemical properties of PrPSc in peripheral tissues in a unique series of nine cases of variant Creutzfeldt-Jakob disease. We have compared this with the distribution and biochemical forms found in all of the major subtypes of sporadic Creutzfeldt-Jakob disease and in a case of iatrogenic Creutzfeldt-Jakob disease associated with growth hormone therapy. The results show that involvement of the lymphoreticular system is a defining feature of variant Creutzfeldt-Jakob disease, but that the biochemical isoform of PrPSc found is influenced by the cell type in which it accumulates. PMID:14695328

    13. Increased sporadic extremes decrease the intraseasonal variability in the Indian summer monsoon rainfall.

      Science.gov (United States)

      Karmakar, Nirupam; Chakraborty, Arindam; Nanjundiah, Ravi S

      2017-08-10

      The Indian summer monsoon (ISM) shows quasi-rhythmic intraseasonal oscillations (ISO) manifested as alternate 'active' phases of copious rainfall and quiescent phases of 'break'. Within these periodic phases, the daily rainfall shows large variability and exhibits spatiotemporally sporadic extreme rainfall events. The recent decades have witnessed a significant increase in the number of these extreme rainfall events, especially in the quiescent phases. This increase is accompanied by a decreasing trend in the mean monsoon rainfall and a weakening variance of its low-frequency ISO (LF-ISO) cycle. However, any physical link between this apparent paradox of increased extreme rainfall events and weakened slower-time-scale components is not yet reported. Here, using observations and numerical model simulations, we show that the occurrence of extreme rainfall events, primarily in the break phase of an LF-ISO cycle, reduce the intensity of the following active phase by stabilizing the atmosphere. We found that extreme events in a monsoon break leads to a reduction in the vertical shear of zonal winds and an increase in the static stability of the atmosphere in the following break-to-active transition and active phases. These conditions oppose the initiation and development of an active phase and lessen its intensity. This reduces the LF-ISO intensity and mean ISM rainfall.

    14. Insulin-Resistant Brain State: the culprit in sporadic Alzheimer’s Disease?

      Science.gov (United States)

      Correia, Sónia C.; Santos, Renato X.; Perry, George; Zhu, Xiongwei; Moreira, Paula I.; Smith, Mark A.

      2011-01-01

      Severe abnormalities in brain glucose/energy metabolism and insulin signaling have been documented to take a pivotal role in early sporadic Alzheimer’s disease (sAD) pathology. Indeed, the “insulin-resistant brain state” has been hypothesized to form the core of the neurodegenerative events that occur in sAD. In this vein, intracerebroventricular administration of subdiabetogenic doses of streptozotocin (STZ) in rats can induce an insulin-resistant brain state, which is proposed as a suitable experimental model of sAD. This review highlights the involvement of disturbed brain insulin metabolism in sAD etiopathogenesis. Furthermore, current knowledge demonstrates that central STZ administration produces brain pathology and behavioral changes that resemble changes found in sAD patients. The STZ-intracerebroventricularly treated rat represents a promising experimental tool in this field by providing new insights concerning early brain alterations in sAD, which can be translated in novel etiopathogenic and therapeutic approaches in this disease. PMID:21262392

    15. A common BACE1 polymorphism is a risk factor for sporadic Creutzfeldt-Jakob disease.

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      Olga Calero

      Full Text Available The β site APP cleaving enzyme 1 (BACE1 is the rate-limiting β-secretase enzyme in the amyloidogenic processing of APP and Aβ formation, and therefore it has a prominent role in Alzheimer's disease (AD pathology. Recent evidence suggests that the prion protein (PrP interacts directly with BACE1 regulating its β-secretase activity. Moreover, PrP has been proposed as the cellular receptor involved in the impairment of synaptic plasticity and toxicity caused by Aβ oligomers. Provided that common pathophysiologic mechanisms are shared by Alzheimer's and Creutzfeldt-Jakob (CJD diseases, we investigated for the first time to the best of our knowledge a possible association of a common synonymous BACE1 polymorphism (rs638405 with sporadic CJD (sCJD. Our results indicate that BACE1 C-allele is associated with an increased risk for developing sCJD, mainly in PRNP M129M homozygous subjects with early onset. These results extend the very short list of genes (other than PRNP involved in the development of human prion diseases; and support the notion that similar to AD, in sCJD several loci may contribute with modest overall effects to disease risk. These findings underscore the interplay in both pathologies of APP, Aβ oligomers, ApoE, PrP and BACE1, and suggest that aging and perhaps vascular risk factors may modulate disease pathologies in part through these key players.

    16. [Sporadic case of non-progressive neurogenic muscular atrophy localized in both calf muscles].

      Science.gov (United States)

      Hara, Kenju; Tateyama, Maki; Suzuki, Naoki; Shibano, Ken; Tanaka, Keiko; Ishiguro, Hideaki

      2013-01-01

      A 60-year-old woman was admitted to our hospital because of difficulty in standing on her toes. Neurological examination showed muscle weakness in both calf muscles. Her serum creatine kinase (CK) level was slightly elevated. MRI revealed hyper-intense signals localized in both the gastrocnemius and soleus muscles. Histological examinations of biopsied muscle specimens showed a marked variation in fiber size, small angular fibers, and hypertrophic and splitting fibers, but no muscle fiber necrosis or regeneration or inflammatory cell infiltration. ATPase stained sections showed small grouped atrophy of type 1 fibers. NADH-TR stained sections showed target/targetoid fibers predominantly in type 1 fibers. Dysferlin immunoreactivity was normal. Follow-up clinical evaluation for one year showed no progression. This patient was diagnosed as having an unknown type of spinal muscular atrophy or benign calf amyotrophy. Sporadic cases characterized by elderly-onset, neurogenic muscular atrophy localized in both calf muscles, and non-progressive course are extremely rare in Japan.

    17. Seasonal correlation of sporadic schizophrenia to Ixodes ticks and Lyme borreliosis

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      Fritzsche Markus

      2002-11-01

      Full Text Available Abstract Background Being born in winter and spring is considered one of the most robust epidemiological risk factors for schizophrenia. The aetiology and exact timing of this birth excess, however, has remained elusive so far. Since during phylogeny, Borrelia DNA has led to multiple germ-line mutations within the CB1 candidate gene for schizophrenia, a meta analysis has been performed of all papers on schizophrenic birth excesses with no less than 3000 cases each. All published numerical data were then plotted against the seasonal distributions of Ixodes ticks worldwide. Results In the United States, Europe and Japan the birth excesses of those individuals who later in life develop schizophrenia mirror the seasonal distribution of Ixodes ticks nine months earlier at the time of conception. South of the Wallace Line, which limits the spread of Ixodes ticks and Borrelia burgdorferi into Australia, seasonal trends are less significant, and in Singapore, being non-endemic for Ixodes ticks and Lyme disease, schizophrenic birth excesses are absent. Conclusion At present, it cannot be excluded that prenatal infection by B. burgdorferi is harmful to the implanting human blastocyst. The epidemiological clustering of sporadic schizophrenia by season and locality rather emphasises the risk to the unborn of developing a congenital, yet preventable brain disorder later in life.

    18. Carotid, aorta and renal arteries intima-media thickness in patients with sporadic idiopathic hypoparathyroidism

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      Deshraj Meena

      2015-01-01

      Full Text Available Background: Alteration in homeostasis of calcium, phosphate and parathyroid hormone (PTH predispose to vascular calcification that increases the risk of cardiovascular morbidity and mortality. The data on this aspect are scarce in patients with sporadic idiopathic hypoparathyroidism (SIH. Objective: The aim was to assess the effect of altered calcium, phosphate and PTH homeostasis in patients with SIH on intima media thickness (IMT, a surrogate marker of increased vascular risk. Methods: In this case-control study, we measured carotid IMT (CIMT, aortic IMT (AIMT and renal arteries IMT (RIMT in 30 consecutive patients with SIH, and compared with healthy subjects. IMT was measured by ultrasound by a single operator blinded to subject′s details. Results: CIMT, AIMT, RIMT values in patients with SIH were significantly more than healthy subjects (0.60 ± 0.08 mm vs. 0.52 ± 0.09 mm, P = 0.001; 0.73 ± 0.09 mm vs. 0.65 ± 0.10, P = 0.004; and 0.34 ± 0.04 mm vs. 0.30 ± 0.05, P = 0.003, respectively. Clinical or biochemical parameters did not correlate with CIMT, AIMT and RIMT in patients with SIH. Conclusion: The vascular risk is increased in patients with SIH as assessed by CIMT, AIMT, and RIMT.

    19. RET single nucleotide polymorphism in Indonesians with sporadic Hirschsprung’s disease

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      Saryono

      2010-08-01

      Full Text Available The tyrosine kinase receptor RET, which is the protein product of the RET gene, is involved in the development of the mammalian nervous system that causes Hirschsprung’s disease (HSCR. RETs are cell surface molecules that are expressed in cells derived from the neural crest. The purpose of this study was to investigate the polymorphism of the RET gene in HSCR in the Yogyakarta population. Genomic DNA was extracted from surgically removed bowel tissues of 54 unrelated HSCR patients. Exon 2 of the RET gene was amplified by polymerase chain reaction (PCR and analyzed by restriction fragment length polymorphism (RFLP. Molecular results were compared with clinical performance of Hirschsprung patients. RET polymorphism was detected in exon 2 in all of the 54 Indonesian HSCR patients. The allelic distribution of the c135GàA polymorphism in the RET exon 2 indicated that the A allele was more frequent in patients than in control individuals (chi-square test, p= 0.001. Thus the RET variant allele A is over-represented in patients affected with the HSCR phenotype. Polymorphism of exon 2 of the RET gene was found in sporadic Hirschsprung’s disease in the Yogyakarta population, which suggests that the RET gene plays important roles in the pathogenesis of HSCR.

    20. Sporadic Hirschsprung`s disease due to a novel nonsense mutation in the RET protooncogene

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      Carlson, K.M.; Donis-Keller, H.; Langer, J.C. [and others

      1994-09-01

      Hirschsprung`s disease (HSCR, aganglionic megacolon) is characterized by a lack of ganglion cells along variable lengths of the hindgut. This is most likely due to a failure of the progenitor cells (that are destined to become the ganglion cells of the submucosal and myenteric plexuses) to complete their distal migration in the colon. Recently, mutations in the RET protoocogene have been reported in association with HSCR. We report a novel nonsense mutation resulting in a severely truncated protein. Germline DNA from a panel of 6 HSCR patients was analyzed by SSCP for 20 exons of RET. Eight exons were also directly sequenced. We identified a novel mutation within RET exon 2. The mutation (TAC{sub 36}{yields}TAG{sub 36}), which occurs at nucleotide position 108, involves the replacement of tyrosine with a stop codon and results in a truncated 35 amino acid protein. This mutation is the most 5{prime} nonsense mutation reported thus far. Interestingly, the patient has no prior family history of HSCR and was also diagnosed with multiple developmental anomalies including dysplastic kidney. Recent gene targeting studies with mouse models have shown that RET is essential for normal renal development. However, a parallel phenotype has not been seen in other reported HSCR patients with RET mutations. The observations reported here provide evidence that RET plays a role in human renal development. Ongoing studies will determine the extent of RET involvement in sporadic cases of HSCR.

    1. RET single nucleotide polymorphism in Indonesians with sporadic Hirschsprung’s disease

      Directory of Open Access Journals (Sweden)

      Saryono Saryono

      2016-02-01

      Full Text Available The tyrosine kinase receptor RET, which is the protein product of the RET gene, is involved in the development of the mammalian nervous system that causes Hirschsprung’s disease (HSCR. RETs are cell surface molecules that are expressed in cells derived from the neural crest. The purpose of this study was to investigate the polymorphism of the RET gene in HSCR in the Yogyakarta population. Genomic DNA was extracted from surgically removed bowel tissues of 54 unrelated HSCR patients. Exon 2 of the RET gene was amplified by polymerase chain reaction (PCR and analyzed by restriction fragment length polymorphism (RFLP. Molecular results were compared with clinical performance of Hirschsprung patients. RET polymorphism was detected in exon 2 in all of the 54 Indonesian HSCR patients. The allelic distribution of the c135GàA polymorphism in the RET exon 2 indicated that the A allele was more frequent in patients than in control individuals (chi-square test, p= 0.001. Thus the RET variant allele A is over-represented in patients affected with the HSCR phenotype. Polymorphism of exon 2 of the RET gene was found in sporadic Hirschsprung’s disease in the Yogyakarta population, which suggests that the RET gene plays important roles in the pathogenesis of HSCR.

    2. Sporadic naturally occurring melanoma in dogs as a preclinical model for human melanoma.

      Science.gov (United States)

      Simpson, R Mark; Bastian, Boris C; Michael, Helen T; Webster, Joshua D; Prasad, Manju L; Conway, Catherine M; Prieto, Victor M; Gary, Joy M; Goldschmidt, Michael H; Esplin, D Glen; Smedley, Rebecca C; Piris, Adriano; Meuten, Donald J; Kiupel, Matti; Lee, Chyi-Chia R; Ward, Jerrold M; Dwyer, Jennifer E; Davis, Barbara J; Anver, Miriam R; Molinolo, Alfredo A; Hoover, Shelley B; Rodriguez-Canales, Jaime; Hewitt, Stephen M

      2014-01-01

      Melanoma represents a significant malignancy in humans and dogs. Different from genetically engineered models, sporadic canine melanocytic neoplasms share several characteristics with human disease that could make dogs a more relevant preclinical model. Canine melanomas rarely arise in sun-exposed sites. Most occur in the oral cavity, with a subset having intra-epithelial malignant melanocytes mimicking the in situ component of human mucosal melanoma. The spectrum of canine melanocytic neoplasia includes benign lesions with some analogy to nevi, as well as invasive primary melanoma, and widespread metastasis. Growing evidence of distinct subtypes in humans, differing in somatic and predisposing germ-line genetic alterations, cell of origin, epidemiology, relationship to ultraviolet radiation and progression from benign to malignant tumors, may also exist in dogs. Canine and human mucosal melanomas appear to harbor BRAF, NRAS, and c-kit mutations uncommonly, compared with human cutaneous melanomas, although both species share AKT and MAPK signaling activation. We conclude that there is significant overlap in the clinical and histopathological features of canine and human mucosal melanomas. This represents opportunity to explore canine oral cavity melanoma as a preclinical model. © 2013 The Authors. Pigment Cell & Melanoma Research published by John Wiley & Sons Ltd.

    3. Lympho-vascular invasion in BRCA related breast cancer compared to sporadic controls

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      van der Wall Elsken

      2010-04-01

      Full Text Available Abstract Background Germline mutations in the BRCA1 gene predispose to the development of breast cancer, exhibiting a specific histological phenotype. Identification of possible hallmarks of these tumors is important for selecting patients for genetic screening and provides inside in carcinogenetic pathways. Since BRCA1-associated breast cancers have pushing borders that prevent them from easily reaching vessels and are often of the medullary (like type that is known to have a low rate of lympho-vascular invasion (LVI, we hypothesized that absence of LVI could characterize BRCA1 related breast cancer. Methods A population of 68 BRCA1 related invasive breast cancers was evaluated for LVI by an experienced breast pathologist blinded to mutation status, and compared to a control group matched for age, grade and tumor type. Results LVI was present in 25.0% of BRCA1 related cases, compared to 20.6% of controls (P = 0.54, OR = 1.29, CI 0.58-2.78. Conclusion LVI is frequent in BRCA1 germline mutation related breast cancers, but seems to occur as often in sporadic controls matched for age, grade and tumor type. Apparently, these hereditary cancers find their way to the blood and lymph vessels despite their well demarcation and often medullary differentiation.

    4. Computed tomographic features of 23 sporadic cases with Legionella pneumophila pneumonia

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      Yu Hui [Department of Respiratory Diseases, Shanghai Pneumology Hospital, Tongji University, Shanghai (China); Higa, Futoshi; Hibiya, Kenji; Furugen, Makoto [Department of Medicine and Therapeutics, Control and Prevention of Infectious Diseases (First Department of Internal Medicine), Faculty of Medicine, University of the Ryukyus, Okinawa (Japan); Sato, Yoko [Tomishiro Chuo Hospital, Okinawa (Japan); Shinzato, Takashi [Nakagami General Hospital, Okinawa (Japan); Haranaga, Shusaku; Yara, Satomi; Tateyama, Masao [Department of Medicine and Therapeutics, Control and Prevention of Infectious Diseases (First Department of Internal Medicine), Faculty of Medicine, University of the Ryukyus, Okinawa (Japan); Fujita, Jiro, E-mail: fujita@med.u-ryukyu.ac.j [Department of Medicine and Therapeutics, Control and Prevention of Infectious Diseases (First Department of Internal Medicine), Faculty of Medicine, University of the Ryukyus, Okinawa (Japan); Li, Huiping [Department of Respiratory Diseases, Shanghai Pneumology Hospital, Tongji University, Shanghai (China)

      2010-06-15

      Objective: To describe the chest computed tomographic (CT) findings of Legionella pneumophila pneumonia. Methods: CT scans obtained from 23 sporadic cases of L. pneumophila pneumonia were retrospectively reviewed. Chest CT findings were analyzed with regard to the patterns and distributions of pulmonary abnormalities. We also analyzed the histopathology of lungs from guinea pigs with experimentally induced L. pneumophila pneumonia. Results: Consolidation and ground-glass opacity (GGO) were the main findings of CT scans in L. pneumophila pneumonia. The distribution of opacities was categorized as non-segmental (n = 20) and segmental (n = 4). Non-segmental distribution may follow an onset of segmental distribution. Pleural effusion was observed in 14 (58.3%) patients, of which 13 were accompanied with non-segmental distribution. Abscess formation was observed in only one immunocompromised patient. In the animal pneumonia model, the lesions comprised of terminal bronchioles, alveolar spaces, and interstitia. Small bacilli were observed to be contained by many macrophages within the alveoli. Conclusion: Non-segmental distribution was significantly more frequent than segmental distribution in L. pneumophila pneumonia. It is possible that L. pneumophila infection initially results in segmental pneumonia, which progresses to typical non-segmental distribution.

    5. Maxillary sporadic Burkitt′s lymphoma associated with neuro-orbital involvement in an Indian male

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      Rakesh Kumar Manne

      2014-01-01

      Full Text Available Burkitt′s lymphoma (BL is the fastest growing malignancy of the lymphoreticular system to affect humans and has a potential ability to double in size every day. A case of maxillary sporadic BL (sBL associated with neuro-orbital involvement in an Indian male is presented. sBL initially presented as maxillary swelling with no obvious dental and periodontal changes. Histological specimen from incisional biopsy revealed a round cell malignant tumor and immunohistochemistry reactions favored nonHodgkin′s lymphoma consistent with BL. Four weeks later, patient presented with orbital involvement as diplopia, sixth cranial nerve palsy, and medial rectus palsy. Chemotherapy regimen according to LMB 89 protocol was started. During chemotherapy regimen patient showed bradycardia and Babinski response, suggestive of central nervous system involvement. sBL associated with orbital involvement is extremely rare and only seven cases have been reported. Our case showed unusual presentation; despite the aggressive tumor did not show any common clinical, radiological, and hematological findings. We also discussed the role of oral medicine specialist, importance of early diagnosis, and prompt referral in management of maxillary sBL.

    6. Epidemiological trends and clinicopathological features of cutaneous melanoma in sporadic and xeroderma pigmentosum Tunisian patients.

      Science.gov (United States)

      Naouali, Chokri; Jones, Meriem; Nabouli, Imen; Jerbi, Manel; Tounsi, Haifa; Ben Rekaya, Mariem; Ben Ahmed, Melika; Bouhaouala, Balkiss; Messaoud, Olfa; Khaled, Aida; Zghal, Mohamed; Abdelhak, Sonia; Boubaker, Samir; Yacoub-Youssef, Houda

      2017-01-01

      Epidemiological features and trends of cutaneous melanoma (CM) in North-African populations remain unclear. Those populations are of particular interest as they belong to a mosaic of various other origins (sub-Saharan, European Ancestry, and North-African Berbers). The aim of this study is to draw epidemiological profile and clinicopathological features of CM in the Tunisian population. Incidence analyses were based on data from regional cancer registries. Clinical data were collected from dermatological departments and xeroderma pigmentosum (XP) referral centers and provided CM clinicopathological characteristics and progression. Statistical analyses were achieved using R packages and SPSS 20.0. The incidence of CM in Tunisia is relatively low (0.5-0.7 per 100,000 inhabitants per year). Gender differences were observed regarding anatomical distribution (P = 0.004). Acral lentiginous melanoma (ALM) was the most frequent histological subtype (32.3%); however, nodular melanoma (NM) was the most aggressive and responsible for 54.8% of deaths. CM in XP patients develops at a median age that is 42 years earlier than sporadic cases, with preferential localization on the head and neck (P melanoma features in Tunisia are closer to those of non-Caucasians, even though gender differences that are similar to those observed in Caucasians were uncovered. This study also emphasizes the aggressiveness of NM and its effect on melanoma patient deaths. Xeroderma pigmentosum stands as the major predisposing host factor. © 2016 The International Society of Dermatology.

    7. SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

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      Bourdon Violaine

      2011-01-01

      Full Text Available Abstract Background Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic NF2 mutations are found in schwannomas, no germ line event is detected in schwannomatosis patients. In contrast, germline mutations of the SMARCB1 (INI1 tumor suppressor gene were described in familial and sporadic schwannomatosis patients. Methods To delineate the SMARCB1 gene contribution, the nine coding exons were sequenced in a series of 56 patients affected with a variable number of non-vestibular schwannomas. Results Nine variants scattered along the sequence of SMARCB1 were identified. Five of them were classified as deleterious. All five patients carrying a SMARCB1 mutation had more multiple schwannomas, corresponding to 10.2% of patients with schwannomatosis. They were also diagnosed before 35 years of age. Conclusions These results suggest that patients with schwannomas have a significant probability of carrying a SMARCB1 mutation. Combined with data available from other studies, they confirm the clinical indications for genetic screening of the SMARCB1 gene.

    8. SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.

      Science.gov (United States)

      Rousseau, Guillaume; Noguchi, Tetsuro; Bourdon, Violaine; Sobol, Hagay; Olschwang, Sylviane

      2011-01-24

      Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic NF2 mutations are found in schwannomas, no germ line event is detected in schwannomatosis patients. In contrast, germline mutations of the SMARCB1 (INI1) tumor suppressor gene were described in familial and sporadic schwannomatosis patients. To delineate the SMARCB1 gene contribution, the nine coding exons were sequenced in a series of 56 patients affected with a variable number of non-vestibular schwannomas. Nine variants scattered along the sequence of SMARCB1 were identified. Five of them were classified as deleterious. All five patients carrying a SMARCB1 mutation had more multiple schwannomas, corresponding to 10.2% of patients with schwannomatosis. They were also diagnosed before 35 years of age. These results suggest that patients with schwannomas have a significant probability of carrying a SMARCB1 mutation. Combined with data available from other studies, they confirm the clinical indications for genetic screening of the SMARCB1 gene.

    9. Microsatellite analysis of sporadic and hereditary gynaecological cancer in routine diagnostics.

      Science.gov (United States)

      Libera, Laura; Sahnane, Nora; Carnevali, Ileana Wanda; Cimetti, Laura; Cerutti, Roberta; Chiaravalli, Anna Maria; Riva, Cristina; Tibiletti, Maria Grazia; Sessa, Fausto; Furlan, Daniela

      2017-09-01

      Microsatellite instability (MSI) testing is tricky in gynaecological cancers (GC). Thus, we aimed to describe the instability patterns to improve MSI test interpretation in sporadic and hereditary GCs. Ninety-five cases, including uterine and ovarian cancers, with known genetic and immunohistochemical (IHC) features, were analysed for MSI by a mononucleotide repeats pentaplex (MRP). We identified 13 ambiguous cases that did not fully meet MSI criteria ('borderline' cases, B-MSI), which were mainly represented by MSH2/MSH6-deficient and Lynch syndrome cases. Also, we evaluated nine additional loci of candidate MSI markers that did not improve the detection of MSI cases, but might be useful for discordant or borderline samples. In conclusion, although MSI and IHC test are highly concordant, a subset of ambiguous MSI cases deserves a careful interpretation in particular when MSH2/MSH6 are involved. RPL22 and SRPR testing may be useful to integrate MRP panel for the analysis of critical cases. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

    10. Disease progression and regression in sporadic small vessel disease-insights from neuroimaging.

      Science.gov (United States)

      van Leijsen, Esther M C; de Leeuw, Frank-Erik; Tuladhar, Anil M

      2017-06-01

      Cerebral small vessel disease (SVD) is considered the most important vascular contributor to the development of dementia. Comprehensive characterization of the time course of disease progression will result in better understanding of aetiology and clinical consequences of SVD. SVD progression has been studied extensively over the years, usually describing change in SVD markers over time using neuroimaging at two time points. As a consequence, SVD is usually seen as a rather linear, continuously progressive process. This assumption of continuous progression of SVD markers was recently challenged by several studies that showed regression of SVD markers. Here, we provide a review on disease progression in sporadic SVD, thereby taking into account both progression and regression of SVD markers with emphasis on white matter hyperintensities (WMH), lacunes and microbleeds. We will elaborate on temporal dynamics of SVD progression and discuss the view of SVD progression as a dynamic process, rather than the traditional view of SVD as a continuous progressive process, that might better fit evidence from longitudinal neuroimaging studies. We will discuss possible mechanisms and clinical implications of a dynamic time course of SVD, with both progression and regression of SVD markers. © 2017 The Author(s); published by Portland Press Limited on behalf of the Biochemical Society.

    11. Regulation of human cerebrospinal fluid malate dehydrogenase 1 in sporadic Creutzfeldt-Jakob disease patients

      Science.gov (United States)

      Schmitz, Matthias; Llorens, Franc; Pracht, Alexander; Thom, Tobias; Correia, Ângela; Zafar, Saima; Ferrer, Isidre; Zerr, Inga

      2016-01-01

      The identification of reliable diagnostic biomarkers in differential diagnosis of neurodegenerative diseases is an ongoing topic. A previous two-dimensional proteomic study on cerebrospinal fluid (CSF) revealed an elevated level of an enzyme, mitochondrial malate dehydrogenase 1 (MDH1), in sporadic Creutzfeldt-Jakob disease (sCJD) patients. Here, we could demonstrate the expression of MDH1 in neurons as well as in the neuropil. Its levels are lower in sCJD brains than in control brains. An examination of CSF-MDH1 in sCJD patients by ELISA revealed a significant elevation of CSF-MDH1 levels in sCJD patients (independently from the PRNP codon 129 MV genotype or the prion protein scrapie (PrPSc) type) in comparison to controls. In combination with total tau (tau), CSF-MDH1 detection exhibited a high diagnostic accuracy for sCJD diagnosis with a sensitivity of 97.5% and a specificity of 95.6%. A correlation study of MDH1 level in CSF with other neurodegenerative marker proteins revealed a significant positive correlation between MDH1 concentration with tau, 14-3-3 and neuron specific enolase level. In conclusion, our study indicated the potential of MDH1 in combination with tau as an additional biomarker in sCJD improving diagnostic accuracy of tau markedly. PMID:27852982

    12. Anesthetic Considerations of Sporadic Inclusion Body Myositis in an Elderly Man With Orthopedic Trauma.

      Science.gov (United States)

      Steck, Dominik T; Choi, Christine; Gollapudy, Suneeta; Pagel, Paul S

      2016-04-01

      Sporadic inclusion body myositis (IBM) is an inflammatory myopathy characterized by progressive asymmetric extremity weakness, oropharyngeal dysphagia, and the potential for exaggerated sensitivity to neuromuscular blockers and respiratory compromise. The authors describe their management of a patient with IBM undergoing urgent orthopedic surgery. An 81-year-old man with IBM suffered a left intertrochanteric femoral fracture after falling down stairs. His IBM caused progressive left proximal lower extremity, bilateral distal upper extremity weakness (left > right), and oropharyngeal dysphagia (solid food, pills). He denied dyspnea, exercise intolerance, and a history of aspiration. Because respiratory insufficiency resulting from diaphragmatic dysfunction and prolonged duration of action of neuromuscular blockers may occur in IBM, the authors avoided using a neuromuscular blocker. After applying cricoid pressure, anesthesia was induced using intravenous lidocaine, propofol, remifentanil followed by manual ventilation with inhaled sevoflurane in oxygen. Endotracheal intubation was accomplished without difficulty; anesthesia was then maintained using remifentanil and sevoflurane. The fracture was repaired with a trochanteric femoral nail. The patient was extubated without difficulty and made an uneventful recovery. In summary, there is a lack of consensus about the use of neuromuscular blockers in patients with IBM. The authors avoided these drugs and were able to easily secure the patient's airway and maintain adequate muscle relaxation using a balanced sevoflurane-remifentanil anesthetic. Clinical trials are necessary to define the pharmacology of neuromuscular blockers in patients with IBM and determine whether use of these drugs contributes to postoperative respiratory insufficiency in these vulnerable patients.

    13. A field guide to pandemic, epidemic and sporadic clones of methicillin-resistant Staphylococcus aureus.

      LENUS (Irish Health Repository)

      Monecke, Stefan

      2011-04-01

      In recent years, methicillin-resistant Staphylococcus aureus (MRSA) have become a truly global challenge. In addition to the long-known healthcare-associated clones, novel strains have also emerged outside of the hospital settings, in the community as well as in livestock. The emergence and spread of virulent clones expressing Panton-Valentine leukocidin (PVL) is an additional cause for concern. In order to provide an overview of pandemic, epidemic and sporadic strains, more than 3,000 clinical and veterinary isolates of MRSA mainly from Germany, the United Kingdom, Ireland, France, Malta, Abu Dhabi, Hong Kong, Australia, Trinidad & Tobago as well as some reference strains from the United States have been genotyped by DNA microarray analysis. This technique allowed the assignment of the MRSA isolates to 34 distinct lineages which can be clearly defined based on non-mobile genes. The results were in accordance with data from multilocus sequence typing. More than 100 different strains were distinguished based on affiliation to these lineages, SCCmec type and the presence or absence of PVL. These strains are described here mainly with regard to clinically relevant antimicrobial resistance- and virulence-associated markers, but also in relation to epidemiology and geographic distribution. The findings of the study show a high level of biodiversity among MRSA, especially among strains harbouring SCCmec IV and V elements. The data also indicate a high rate of genetic recombination in MRSA involving SCC elements, bacteriophages or other mobile genetic elements and large-scale chromosomal replacements.

    14. Clinical and Genetic Aspects of Sporadic Non-Medullar Thyroid Cancer

      Directory of Open Access Journals (Sweden)

      U Rumjanzeva

      2006-03-01

      Full Text Available The role of somatic mutations in sporadic thyroid cancer is unclear today. Probably they coming out as aetiological factors in carcinogenesis as well as, respectfully to many authors, can to participate in TC pathogenesis and to determine the clinical course and prognosis of the disease. For today as main oncogenes taking part in initiation of thyroid malignant tumors are considered: RET/PTC, TRK, PTEN, P53, RAS, MET, PPARγ. By means of genetic investigations scientists are trying to solve problems with thyroid cancer differentiated diagnostics (cytokeratin-19, cytokeratin-20, mesothelial cells antigen (Hector Battifora MEsotelial (cell or HBME-1, loss of heterozigitoty (LOH in short arm of 3 chromosome (gene VHL -von Hippel Lindau, 3р26. Recently in foreign literature appeared reports of activated mutations in gene BRAF which most frequently are occurred in melanoma and papillary TC. Prognosis of thyroid cancer may reflected by the LOH as a biological breakage as well as changes of tumor suppressive gene P53 which fraught with decrease of disease prognosis. Thus, both researchers and clinicians have many questions concerning the role of genome, particularly in order to precise of genetic abnormality influence on tumor growth and therefore for assessment of clinical prognosis and with aim to chose adequate treatment tactic in each case.

    15. 3D tomography of midlatitude sporadic-E in Japan from GNSS-TEC data

      Science.gov (United States)

      Muafiry, Ihsan Naufal; Heki, Kosuke; Maeda, Jun

      2018-03-01

      We studied ionospheric irregularities caused by midlatitude sporadic-E ( Es) in Japan using ionospheric total electron content (TEC) data from a dense GNSS array, GEONET, with a 3D (three-dimensional) tomography technique. Es is a thin layer of unusually high ionization that appears at altitudes of 100 km. Here, we studied five cases of Es irregularities in 2010 and 2012, also reported in previous studies, over the Kanto and Kyushu Districts. We used slant TEC residuals as the input and estimated the number of electron density anomalies of more than 2000 small blocks with dimensions of 20-30 km covering a horizontal region of 300 × 500 km. We applied a continuity constraint to stabilize the solution and performed several different resolution tests with synthetic data to assess the accuracy of the results. The tomography results showed that positive electron density anomalies occurred at the E region height, and the morphology and dynamics were consistent with those reported by earlier studies.

    16. Energetics and structure of the lower E region associated with sporadic E layer

      Directory of Open Access Journals (Sweden)

      K.-I. Oyama

      2008-09-01

      Full Text Available The electron temperature (Te, electron density (Ne, and two components of the electric field were measured from the height of 90 km to 150 km by one of the sounding rockets launched during the SEEK-2 campaign. The rocket went through sporadic E layer (Es at the height of 102 km–109 km during ascent and 99 km–108 km during decent, respectively. The energy density of thermal electrons calculated from Ne and Te shows the broad maximum in the height range of 100–110 km, and it decreases towards the lower and higher altitudes, which implies that a heat source exists in the height region of 100 km–110 km. A 3-D picture of Es, that was drawn by using Te, Ne, and the electric field data, corresponded to the computer simulation; the main structure of Es is projected to a higher altitude along the magnetic line of force, thus producing irregular structures of Te, Ne and electric field in higher altitude.

    17. A Field Guide to Pandemic, Epidemic and Sporadic Clones of Methicillin-Resistant Staphylococcus aureus

      Science.gov (United States)

      Monecke, Stefan; Coombs, Geoffrey; Shore, Anna C.; Coleman, David C.; Akpaka, Patrick; Borg, Michael; Chow, Henry; Ip, Margaret; Jatzwauk, Lutz; Jonas, Daniel; Kadlec, Kristina; Kearns, Angela; Laurent, Frederic; O'Brien, Frances G.; Pearson, Julie; Ruppelt, Antje; Schwarz, Stefan; Scicluna, Elizabeth; Slickers, Peter; Tan, Hui-Leen; Weber, Stefan; Ehricht, Ralf

      2011-01-01

      In recent years, methicillin-resistant Staphylococcus aureus (MRSA) have become a truly global challenge. In addition to the long-known healthcare-associated clones, novel strains have also emerged outside of the hospital settings, in the community as well as in livestock. The emergence and spread of virulent clones expressing Panton-Valentine leukocidin (PVL) is an additional cause for concern. In order to provide an overview of pandemic, epidemic and sporadic strains, more than 3,000 clinical and veterinary isolates of MRSA mainly from Germany, the United Kingdom, Ireland, France, Malta, Abu Dhabi, Hong Kong, Australia, Trinidad & Tobago as well as some reference strains from the United States have been genotyped by DNA microarray analysis. This technique allowed the assignment of the MRSA isolates to 34 distinct lineages which can be clearly defined based on non-mobile genes. The results were in accordance with data from multilocus sequence typing. More than 100 different strains were distinguished based on affiliation to these lineages, SCCmec type and the presence or absence of PVL. These strains are described here mainly with regard to clinically relevant antimicrobial resistance- and virulence-associated markers, but also in relation to epidemiology and geographic distribution. The findings of the study show a high level of biodiversity among MRSA, especially among strains harbouring SCCmec IV and V elements. The data also indicate a high rate of genetic recombination in MRSA involving SCC elements, bacteriophages or other mobile genetic elements and large-scale chromosomal replacements. PMID:21494333

    18. Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

      Science.gov (United States)

      Dimassi, S; Labalme, A; Ville, D; Calender, A; Mignot, C; Boutry-Kryza, N; de Bellescize, J; Rivier-Ringenbach, C; Bourel-Ponchel, E; Cheillan, D; Simonet, T; Maincent, K; Rossi, M; Till, M; Mougou-Zerelli, S; Edery, P; Saad, A; Heron, D; des Portes, V; Sanlaville, D; Lesca, G

      2016-02-01

      Infantile spasms syndrome (ISs) is characterized by clinical spasms with ictal electrodecrement, usually occurring before the age of 1 year and frequently associated with cognitive impairment. Etiology is widely heterogeneous, the cause remaining elusive in 40% of patients. We searched for de novo mutations in 10 probands with ISs and their parents using whole-exome sequencing (WES). Patients had neither consanguinity nor family history of epilepsy. Common causes of ISs were excluded by brain magnetic resonance imaging (MRI), metabolic screening, array-comparative genomic hybridization (CGH) and testing for mutations in CDKL5, STXBP1, and for ARX duplications. We found a probably pathogenic mutation in four patients. Missense mutations in SCN2A (p.Leu1342Pro) and KCNQ2 (p.Ala306Thr) were found in two patients with no history of epilepsy before the onset of ISs. The p.Asn107Ser missense mutation of ALG13 had been previously reported in four females with ISs. The fourth mutation was an in-frame deletion (p.Phe110del) in NR2F1, a gene whose mutations cause intellectual disability, epilepsy, and optic atrophy. In addition, we found a possibly pathogenic variant in KIF3C that encodes a kinesin expressed during neural development. Our results confirm that WES improves significantly the diagnosis yield in patients with sporadic ISs. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

    19. Prokineticin 1 protein expression is a useful new prognostic factor for human sporadic colorectal cancer.

      Science.gov (United States)

      Nakazawa, Toshiyuki; Goi, Takanori; Hirono, Yasuo; Yamaguchi, Akio

      2015-05-01

      Hematogenous metastasis, regarded as closely related to angiogenic growth factors, is associated with colorectal cancer prognosis. The angiogenic growth factor prokineticin 1 (PROK1) has been cloned from endocrine cells. However, its protein expression in human malignant tumors has not been studied. The current study established the anti-PROK1 monoclonal antibody (mAb) and examined the relationship between the expression of PROK1 protein and human colorectal cancer. The expression of PROK1 protein was assessed in 620 resected sporadic colorectal cancer tissue samples by immunohistochemical staining with in-house-developed human PROK1 mAb to investigate the relationship of PROK1 expression to clinicopathologic factors, recurrence, and survival rate and to evaluate its prognostic significance. The expression of PROK1 protein was detected in 36 % (223/620) of human primary colorectal cancer lesions but no in the healthy mucosa adjacent to the colorectal cancer lesions. According to the clinicopathologic examinations, the frequency of positive PROK1 expression was significantly higher in cases with serosal invasion, lymphatic invasion, venous invasion, lymph node metastasis, liver metastasis, hematogenous metastasis, and higher stage disease. The recurrence rate and prognosis for patients with PROK1 expression-positive lesions were significantly worse. In the Cox proportional hazard model, PROK1 expression was an independent prognostic factor. The expression of PROK1 protein was identified for the first time as a new prognostic factor in colorectal cancer.

    20. Consumo de sal fortificada con yodo en niños de 12 a 35 meses de edad y ujeres en edad fértil en el Perú

      OpenAIRE

      Miranda C, Marianella; Dirección Ejecutiva de Vigilancia Alimentaria Nutricional. Centro Nacional de Alimentación y Nutrición. Instituto Nacional de Salud. Lima, Perú.; Calderón A, María del Pilar; Dirección Ejecutiva de Vigilancia Alimentaria Nutricional. Centro Nacional de Alimentación y Nutrición. Instituto Nacional de Salud. Lima, Perú.; Riega D, Vanessa; Dirección Ejecutiva de Vigilancia Alimentaria Nutricional. Centro Nacional de Alimentación y Nutrición. Instituto Nacional de Salud. Lima, Perú.; Barboza Del C, Juan; Rojas D, Carlos; Dirección Ejecutiva de Vigilancia Alimentaria Nutricional. Centro Nacional de Alimentación y Nutrición. Instituto Nacional de Salud. Lima, Perú.

      2004-01-01

      Objetivo: Determinar la prevalencia del consumo de sal fortificada con yodo en niños de 12 a 35 meses de edad y mujeres en edad fértil. Material y Métodos: La información fue obtenida de la Encuesta Nacional de Consumo de Alimentos en Mujeres en Edad Fértil y Niños entre 12 y 35 meses del año 2003. La muestra estuvo constituida por 2907 niños y 2909 mujeres. La determinación de la presencia de yodo en sal se realizó a través de un método cualitativo normado para su uso en el Perú. Resultados:...