263 research outputs found

    Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population

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    Periodontitis Stage III-IV, Grade C (PerioC) is a severe form of Periodontitis. The individual genetic background has been shown to be an important etiopathogenic factor for the development of this disease in young, systemically healthy, and non-smokers patients. Recently, after exome sequencing of families with a history of the disease, PerioC was associated with three single nucleotide variations (SNVs) – rs142548867 (EEFSEC), rs574301770 (ZNF136), and rs72821893 (KRT25) – which were classified as deleterious or possibly harmful by prediction algorithms. Objective: Seeking to validate these findings in a cohort evaluation, this study aims to characterize the allele and genotypic frequency of the SNVs rs142548867, rs574301770, and rs72821893 in the Brazilian population with PerioC and who were periodontally healthy (PH). Methodology: Thus, epithelial oral cells from 200 PerioC and 196 PH patients were harvested at three distinct centers at the Brazilian Southern region, their DNA were extracted, and the SNVs rs142548867, rs574301770, rs72821893 were genotyped using 5â€Č-nuclease allelic discrimination assay. Differences in allele and genotype frequencies were analyzed using Fisher’s Exact Test. Only the SNV rs142548867 (C > T) was associated with PerioC. Results: The CT genotype was detected more frequently in patients with PerioC when compared with PH subjects (6% and 0.5% respectively), being significantly associated with PerioC (odds ratio 11.76, p=0.02). Conclusion: rs142548867 represents a potential risk for the occurrence of this disease in the Brazilian population

    Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population

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    Abstract Periodontitis Stage III-IV, Grade C (PerioC) is a severe form of Periodontitis. The individual genetic background has been shown to be an important etiopathogenic factor for the development of this disease in young, systemically healthy, and non-smokers patients. Recently, after exome sequencing of families with a history of the disease, PerioC was associated with three single nucleotide variations (SNVs) – rs142548867 (EEFSEC), rs574301770 (ZNF136), and rs72821893 (KRT25) – which were classified as deleterious or possibly harmful by prediction algorithms. Objective Seeking to validate these findings in a cohort evaluation, this study aims to characterize the allele and genotypic frequency of the SNVs rs142548867, rs574301770, and rs72821893 in the Brazilian population with PerioC and who were periodontally healthy (PH). Methodology Thus, epithelial oral cells from 200 PerioC and 196 PH patients were harvested at three distinct centers at the Brazilian Southern region, their DNA were extracted, and the SNVs rs142548867, rs574301770, rs72821893 were genotyped using 5â€Č-nuclease allelic discrimination assay. Differences in allele and genotype frequencies were analyzed using Fisher’s Exact Test. Only the SNV rs142548867 (C > T) was associated with PerioC. Results The CT genotype was detected more frequently in patients with PerioC when compared with PH subjects (6% and 0.5% respectively), being significantly associated with PerioC (odds ratio 11.76, p=0.02). Conclusion rs142548867 represents a potential risk for the occurrence of this disease in the Brazilian population

    Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

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    Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection

    Ten millennia of hepatitis B virus evolution

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    Hepatitis B virus (HBV) has been infecting humans for millennia and remains a global health problem, but its past diversity and dispersal routes are largely unknown. We generated HBV genomic data from 137 Eurasians and Native Americans dated between ~10,500 and ~400 years ago. We date the most recent common ancestor of all HBV lineages to between ~20,000 and 12,000 years ago, with the virus present in European and South American hunter-gatherers during the early Holocene. After the European Neolithic transition, Mesolithic HBV strains were replaced by a lineage likely disseminated by early farmers that prevailed throughout western Eurasia for ~4000 years, declining around the end of the 2nd millennium BCE. The only remnant of this prehistoric HBV diversity is the rare genotype G, which appears to have reemerged during the HIV pandemic

    COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational study

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    Background: The ISARIC prospective multinational observational study is the largest cohort of hospitalized patients with COVID-19. We present relationships of age, sex, and nationality to presenting symptoms. Methods: International, prospective observational study of 60 109 hospitalized symptomatic patients with laboratory-confirmed COVID-19 recruited from 43 countries between 30 January and 3 August 2020. Logistic regression was performed to evaluate relationships of age and sex to published COVID-19 case definitions and the most commonly reported symptoms. Results: ‘Typical’ symptoms of fever (69%), cough (68%) and shortness of breath (66%) were the most commonly reported. 92% of patients experienced at least one of these. Prevalence of typical symptoms was greatest in 30- to 60-year-olds (respectively 80, 79, 69%; at least one 95%). They were reported less frequently in children (≀ 18 years: 69, 48, 23; 85%), older adults (≄ 70 years: 61, 62, 65; 90%), and women (66, 66, 64; 90%; vs. men 71, 70, 67; 93%, each P &lt; 0.001). The most common atypical presentations under 60 years of age were nausea and vomiting and abdominal pain, and over 60 years was confusion. Regression models showed significant differences in symptoms with sex, age and country. Interpretation: This international collaboration has allowed us to report reliable symptom data from the largest cohort of patients admitted to hospital with COVID-19. Adults over 60 and children admitted to hospital with COVID-19 are less likely to present with typical symptoms. Nausea and vomiting are common atypical presentations under 30 years. Confusion is a frequent atypical presentation of COVID-19 in adults over 60 years. Women are less likely to experience typical symptoms than men

    Estudo da relação entre a condutividade elétrica por indução eletromagnética e outras propriedades do solo com estratificação por horizontes.

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    A realização de levantamento geoelĂ©tricos, nomeadamente por indução eletromagnĂ©tica (EMI), tem revelado grande utilidade na diferenciação de solos com base na condutividade elĂ©trica aparente (ECa). Muitos estudos tĂȘm relacionado a ECa com diversas caracterĂ­sticas do solo, usando valores mĂ©dios desde a superfĂ­cie atĂ© Ă  profundidade de alcance definida pelo equipamento de EMI usado. PorĂ©m, tem sido menos estudada a relação entre a condutividade elĂ©trica (σ) e outras caracterĂ­sticas do solo, diferenciada por horizontes ou camadas. Neste trabalho comparam-se relaçÔes das caracterĂ­sticas do solo com a ECa e com a σ. Para o primeiro caso usaram-se valores mĂ©dios desde a superfĂ­cie atĂ© Ă  profundidade de alcance da EMI e, para o segundo, os valores obtidos para cada horizonte ou camada, definidos de acordo com a morfologia do perfil do solo, sendo a σ de cada horizonte/camada calculada por tĂ©cnicas recentes de modelação inversa. O estudo realizou-se em trĂȘs parcelas da Associação dos BeneficiĂĄrios do Roxo, onde foram observados trĂȘs perfis de solo (Chromic Luvisol, Abruptic Luvisol e Endosodic Vertisol), totalizando 13 horizontes. Na ĂĄrea envolvente dos perfis realizaram-se duas passagens com um equipamento Dualem 1, a 5 cm e a 35 cm de altura. Com os dois recetores do Dualem 1 obteve-se um total de quatro leituras da ECa atĂ© Ă s profundidades de 15, 45, 115 e 145 cm. Correlacionou-se a ECa (22<ECa<127 dS m-1) e a σ (20<σ<120 dS m-1) com as seguintes propriedades de cada horizonte: fração grosseira (0<FG<41%), teor de argila (8<G<66%), condutividade elĂ©trica do extrato de saturação (0,18<ECe<4,13 dS/m), capacidade de troca catiĂłnica (5<CTC<41 cmolc kg-1) e teor de ĂĄgua na medição da ECa (0,08<Ξ<0,41 cm3 cm-3). As propriedades do solo indicadas deram melhores correlaçÔes com a ECa (mĂĄximo de r=0,67 para G) do que com a σ, exceto no caso de ECe (r=0,84 com σ e r=0,51 com ECa). Em contrapartida, combinando mais do que uma propriedade do solo, obtiveram-se sempre correlaçÔes mais altas e mais significativas com σ (ex: r=0,92 entre ECe*CTC*G e σ). Os resultados desta abordagem exploratĂłria incentivam o aprofundamento do estudo das relaçÔes entre a σ e outras propriedades do solo respeitando a sua estratificação por horizontes

    Production of the Quinone-Methide Triterpene Maytenin by In Vitro Adventitious Roots of Peritassa campestris (Cambess.) A.C.Sm. (Celastraceae) and Rapid Detection and Identification by APCI-IT-MS/MS

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    Establishment of adventitious root cultures of Peritassa campestris (Celastraceae) was achieved from seed cotyledons cultured in semisolid Woody Plant Medium (WPM) supplemented with 2% sucrose, 0.01% PVP, and 4.0 mg L−1 IBA. Culture period on accumulation of biomass and quinone-methide triterpene maytenin in adventitious root were investigated. The accumulation of maytenin in these roots was compared with its accumulation in the roots of seedlings grown in a greenhouse (one year old). A rapid detection and identification of maytenin by direct injection into an atmospheric-pressure chemical ionization ion trap tandem mass spectrometer (APCI-IT-MS/MS) were performed without prior chromatographic separation. In vitro, the greatest accumulation of biomass occurred within 60 days of culture. The highest level of maytenin—972.11 Όg·g−1 dry weight—was detected at seven days of cultivation; this value was 5.55-fold higher than that found in the roots of seedlings grown in a greenhouse
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