48 research outputs found

    Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma

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    Medullary thyroid carcinoma occurs in both sporadic (75%) and hereditary (25%) forms. The missense mutations of RET proto-oncogene in MTC development have been well demonstrated. To investigate the spectrum of predominant RET germline mutations in exons 10, 11, and 16 in hereditary MTC in Iranian population, 217 participants were included. Genomic DNAs were extracted from the leukocytes using the standard Salting Out/Proteinase K method. Mutation detection was performed through PCR-RFLP and DNA sequencing. In 217 participants, 43 missense mutations were identified in exons 10 (6%), 11 (13%), and 16 (0.9%). Moreover, a novel germline mutation was detected in exon 11 (S686N). Also four different polymorphisms were found in intron 16 in eight patients. The obtained data showed the frequency profile of RET mutations in Iranian individuals with MTC (19.8%). The most frequent mutation in our population was C634G whereas in most population it was C634R. Altogether, these results underline the importance of the genetic background of family members of any patient with MTC

    Molecular Genotyping of the Human Cystic Echinococcosis in Mazandaran Province, North of Iran

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    Background: The larval stage of the tapeworm (cestode) Echinococcus granulosus is the etiological agent of hydatidosis or cystic echinococcosis, which is the zoonotic parasitic disease causing morbidity and mortality in both humans and livestock. Due to a lack of accurate data on the human isolates of E. granulosus in Mazandaran Province, northern Iran, the current study aimed to survey the population genetic pattern of cystic echinococcosis isolated from humans by sequencing the mitochondrial genes of NADH dehydrogenase subunit 1 (nad1). Methods: Overall, 47 formalin fixed paraffin-embedded tissue (FFPT) blocks were collected from patients' files in various pathology departments of Mazandaran Province in Iran from 2003 to 2015. PCR was performed to amplify a 398bp DNA fragment of mitochondrial nad1. PCR products were sequenced by Bioneer Corporation (South Korea), and the resulting data were analyzed via relevant software to determine the genotypes. Results: The nad1 gene was successfully amplified on 10 from all of the E. granulosus isolates. Overall, 66.6% and 33.3% of the isolates in the studied area displayed the G1 and G2-G3 genotypes, respectively. Conclusion: This study may provide the foundation for further studies in revealing the regional transmission patterns and also in designing adequate control procedures

    Use of a polyphasic approach including MALDI-TOF MS for identification of Aspergillus section Flavi strains isolated from food commodities in Brazil

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    Brazil is one the largest producers and exporters of food commodities in the world. The evaluation of fungi capable of spoilage and the production mycotoxins in these commodities is an important issue that can be of help in bioeconomic development. The present work aimed to identify fungi of the genus Aspergillus section Flavi isolated from different food commodities in Brazil. Thirty-five fungal isolates belonging to the section Flavi were identified and characterised. Different classic phenotypic and genotypic methodologies were used, as well as a novel approach based on proteomic profiles produced by matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDI-TOF MS). Type or reference strains for each taxonomic group were included in this study. Three isolates that presented discordant identification patterns were further analysed using the internal transcribed spacer (ITS) region and calmodulin gene sequences. The data obtained from the phenotypic and spectral analyses divide the isolates into three groups, corresponding to taxa closely related to Aspergillus flavus, Aspergillus parasiticus, and Aspergillus tamarii. Final polyphasic fungal identification was achieved by joining data from molecular analyses, classical morphology, and biochemical and proteomic profiles generated by MALDI-TOF MS.Acknowledgments are due to FAPEMIG - Fundacao de Amparo a Pesquisa do Estado de Minas Gerais (Brazil) for financial support. F. C. da Silva extends thanks to CAPES - Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (Brazil) for the PhD grant. C. Santos and N. Lima thank CAPES for the financial support as international visiting professors in the Post-Graduate Programme in Agricultural Microbiology, Federal University of Lavras, Lavras (MG), Brazil

    Global, regional, and national incidence and mortality for HIV, tuberculosis, and malaria during 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013

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    BACKGROUND: The Millennium Declaration in 2000 brought special global attention to HIV, tuberculosis, and malaria through the formulation of Millennium Development Goal (MDG) 6. The Global Burden of Disease 2013 study provides a consistent and comprehensive approach to disease estimation for between 1990 and 2013, and an opportunity to assess whether accelerated progress has occured since the Millennium Declaration. METHODS: To estimate incidence and mortality for HIV, we used the UNAIDS Spectrum model appropriately modified based on a systematic review of available studies of mortality with and without antiretroviral therapy (ART). For concentrated epidemics, we calibrated Spectrum models to fit vital registration data corrected for misclassification of HIV deaths. In generalised epidemics, we minimised a loss function to select epidemic curves most consistent with prevalence data and demographic data for all-cause mortality. We analysed counterfactual scenarios for HIV to assess years of life saved through prevention of mother-to-child transmission (PMTCT) and ART. For tuberculosis, we analysed vital registration and verbal autopsy data to estimate mortality using cause of death ensemble modelling. We analysed data for corrected case-notifications, expert opinions on the case-detection rate, prevalence surveys, and estimated cause-specific mortality using Bayesian meta-regression to generate consistent trends in all parameters. We analysed malaria mortality and incidence using an updated cause of death database, a systematic analysis of verbal autopsy validation studies for malaria, and recent studies (2010-13) of incidence, drug resistance, and coverage of insecticide-treated bednets. FINDINGS: Globally in 2013, there were 1¡8 million new HIV infections (95% uncertainty interval 1¡7 million to 2¡1 million), 29¡2 million prevalent HIV cases (28¡1 to 31¡7), and 1¡3 million HIV deaths (1¡3 to 1¡5). At the peak of the epidemic in 2005, HIV caused 1¡7 million deaths (1¡6 million to 1¡9 million). Concentrated epidemics in Latin America and eastern Europe are substantially smaller than previously estimated. Through interventions including PMTCT and ART, 19¡1 million life-years (16¡6 million to 21¡5 million) have been saved, 70¡3% (65¡4 to 76¡1) in developing countries. From 2000 to 2011, the ratio of development assistance for health for HIV to years of life saved through intervention was US$4498 in developing countries. Including in HIV-positive individuals, all-form tuberculosis incidence was 7¡5 million (7¡4 million to 7¡7 million), prevalence was 11¡9 million (11¡6 million to 12¡2 million), and number of deaths was 1¡4 million (1¡3 million to 1¡5 million) in 2013. In the same year and in only individuals who were HIV-negative, all-form tuberculosis incidence was 7¡1 million (6¡9 million to 7¡3 million), prevalence was 11¡2 million (10¡8 million to 11¡6 million), and number of deaths was 1¡3 million (1¡2 million to 1¡4 million). Annualised rates of change (ARC) for incidence, prevalence, and death became negative after 2000. Tuberculosis in HIV-negative individuals disproportionately occurs in men and boys (versus women and girls); 64¡0% of cases (63¡6 to 64¡3) and 64¡7% of deaths (60¡8 to 70¡3). Globally, malaria cases and deaths grew rapidly from 1990 reaching a peak of 232 million cases (143 million to 387 million) in 2003 and 1¡2 million deaths (1¡1 million to 1¡4 million) in 2004. Since 2004, child deaths from malaria in sub-Saharan Africa have decreased by 31¡5% (15¡7 to 44¡1). Outside of Africa, malaria mortality has been steadily decreasing since 1990. INTERPRETATION: Our estimates of the number of people living with HIV are 18¡7% smaller than UNAIDS's estimates in 2012. The number of people living with malaria is larger than estimated by WHO. The number of people living with HIV, tuberculosis, or malaria have all decreased since 2000. At the global level, upward trends for malaria and HIV deaths have been reversed and declines in tuberculosis deaths have accelerated. 101 countries (74 of which are developing) still have increasing HIV incidence. Substantial progress since the Millennium Declaration is an encouraging sign of the effect of global action. FUNDING: Bill & Melinda Gates Foundation

    Estimates of global, regional, and national incidence, prevalence, and mortality of HIV, 1980–2015: the Global Burden of Disease Study 2015

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    Global, regional, and national disability-adjusted life-years (DALYs) for 315 diseases and injuries and healthy life expectancy (HALE), 1990-2015: a systematic analysis for the Global Burden of Disease Study 2015.

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    BACKGROUND: Healthy life expectancy (HALE) and disability-adjusted life-years (DALYs) provide summary measures of health across geographies and time that can inform assessments of epidemiological patterns and health system performance, help to prioritise investments in research and development, and monitor progress toward the Sustainable Development Goals (SDGs). We aimed to provide updated HALE and DALYs for geographies worldwide and evaluate how disease burden changes with development. METHODS: We used results from the Global Burden of Diseases, Injuries, and Risk Factors Study 2015 (GBD 2015) for all-cause mortality, cause-specific mortality, and non-fatal disease burden to derive HALE and DALYs by sex for 195 countries and territories from 1990 to 2015. We calculated DALYs by summing years of life lost (YLLs) and years of life lived with disability (YLDs) for each geography, age group, sex, and year. We estimated HALE using the Sullivan method, which draws from age-specific death rates and YLDs per capita. We then assessed how observed levels of DALYs and HALE differed from expected trends calculated with the Socio-demographic Index (SDI), a composite indicator constructed from measures of income per capita, average years of schooling, and total fertility rate. FINDINGS: Total global DALYs remained largely unchanged from 1990 to 2015, with decreases in communicable, neonatal, maternal, and nutritional (Group 1) disease DALYs offset by increased DALYs due to non-communicable diseases (NCDs). Much of this epidemiological transition was caused by changes in population growth and ageing, but it was accelerated by widespread improvements in SDI that also correlated strongly with the increasing importance of NCDs. Both total DALYs and age-standardised DALY rates due to most Group 1 causes significantly decreased by 2015, and although total burden climbed for the majority of NCDs, age-standardised DALY rates due to NCDs declined. Nonetheless, age-standardised DALY rates due to several high-burden NCDs (including osteoarthritis, drug use disorders, depression, diabetes, congenital birth defects, and skin, oral, and sense organ diseases) either increased or remained unchanged, leading to increases in their relative ranking in many geographies. From 2005 to 2015, HALE at birth increased by an average of 2¡9 years (95% uncertainty interval 2¡9-3¡0) for men and 3¡5 years (3¡4-3¡7) for women, while HALE at age 65 years improved by 0¡85 years (0¡78-0¡92) and 1¡2 years (1¡1-1¡3), respectively. Rising SDI was associated with consistently higher HALE and a somewhat smaller proportion of life spent with functional health loss; however, rising SDI was related to increases in total disability. Many countries and territories in central America and eastern sub-Saharan Africa had increasingly lower rates of disease burden than expected given their SDI. At the same time, a subset of geographies recorded a growing gap between observed and expected levels of DALYs, a trend driven mainly by rising burden due to war, interpersonal violence, and various NCDs. INTERPRETATION: Health is improving globally, but this means more populations are spending more time with functional health loss, an absolute expansion of morbidity. The proportion of life spent in ill health decreases somewhat with increasing SDI, a relative compression of morbidity, which supports continued efforts to elevate personal income, improve education, and limit fertility. Our analysis of DALYs and HALE and their relationship to SDI represents a robust framework on which to benchmark geography-specific health performance and SDG progress. Country-specific drivers of disease burden, particularly for causes with higher-than-expected DALYs, should inform financial and research investments, prevention efforts, health policies, and health system improvement initiatives for all countries along the development continuum. FUNDING: Bill & Melinda Gates Foundation

    Effect of total replacement of egg by soymilk and lecithin on physical properties of batter and cake

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    The baking industry is interested in finding cost‐effective and healthful alternatives for eggs. Therefore, in this study the effects of total replacement of egg by soymilk (SM) in combination with 0–6% soy lecithin (SL) on batter (density, microstructure, viscosity, and texture) and cakes (height, volume, density, texture, color parameters, and sensory attributes) were determined and compared with cakes manufactured with eggs. The results showed that all batters had shear thinning behavior and provided a good fit for the power law model. The egg‐free cake in the absence of SL was downgraded because of high density and viscosity, small air bubbles, dark color, firm texture, low volume, and sensory scores. Inclusion of up to 4% SL to the SM was found to be significant in improving cake quality and led to cakes more similar to the control sample; however, higher levels of SL had negative effects on organoleptic properties of cakes

    Effects of Mung Bean (<i>Vigna radiata</i>) Protein Isolate on Rheological, Textural, and Structural Properties of Native Corn Starch

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    It is critical to understand the starch–protein interactions in food systems to obtain products with desired functional properties. This study aimed to investigate the influence of mung bean protein isolate (MBPI) on the rheological, textural, and structural properties of native corn starch (NCS) and their possible interactions during gelatinization. The dynamic rheological measurements showed a decrease in the storage modulus (G’) and loss modulus (G”) and an increase in the loss factor (tan δ), by adding MBPI to NCS gels. In addition, the textural properties represented a reduction in firmness after the addition of MBPI. The Scanning electron microscope (SEM) images of the freeze-dried NCS/MBPI gels confirmed that the NCS gel became softer by incorporating the MBPI. Moreover, X-ray diffraction (XRD) patterns showed a peak at 17.4°, and the relative crystallinity decreased with increasing MBPI concentrations. The turbidity determination after 120 h refrigerated storage showed that the addition of MBPI could reduce the retrogradation of NCS gels by interacting with leached amylose. Additionally, the syneresis of NCS/MBPI gels decreased at 14 days of refrigerated storage from 60.53 to 47.87%

    Physicochemical, Pasting, and Thermal Properties of Native Corn Starch&ndash;Mung Bean Protein Isolate Composites

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    Starch is widely used in food and non-food industries because of its unique characteristics. However, native starch shows some weaknesses that restrict its applications. Recently, some studies have demonstrated the benefits of using protein to overcome these limitations. Therefore, the aim of the present study was to investigate the effect of mung bean protein isolate (MBPI) (2%, 4%, 6%, and 8%) on the physicochemical, pasting, and thermal properties of native corn starch (NCS), as a novel starch&ndash;protein composite. Higher swelling power (SP), water absorbance capacity (WAC), and solubility values of NCS were observed with increasing MBPI concentration. Additionally, by the addition of MBPI, the rapid visco analyzer (RVA) showed a reduction in pasting temperature (77.98 to 76.53 &deg;C), final viscosity (5762 to 4875 cP), and setback (3063 to 2400 cP), while the peak viscosity (4691 to 5648 cP) and breakdown (1992 to 3173 cP) increased. The thermal properties of NCS/MBPI gels investigated by differential scanning calorimetry (DSC) showed higher onset, peak, and conclusion temperatures (69.69 to 72.21 &deg;C, 73.45 to 76.72 &deg;C, and 77.75 to 82.26 &deg;C, respectively), but lower gelatinization enthalpy (10.85 to 8.79 J/g) by increasing MBPI concentration. Fourier transform infrared spectroscopy (FT-IR) indicated that the addition of MBPI decreased the amount of hydrogen bonds within starch. Furthermore, after three cycles of freeze-thaw shocks, the syneresis of NCS-MBPI composites decreased from 38.18 to 22.01%. These results indicated that the MBPI could improve the physicochemical properties of NCS, especially its syneresis and retrogradation characteristics
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