177 research outputs found

    The genetic variation of lactase persistence alleles in northeast Africa

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    Lactase persistence (LP) is a well-studied example of a Mendelian trait under selection in some human groups due to gene-culture co-evolution. We investigated the frequencies of genetic variants linked to LP in Sudanese and South Sudanese populations. These populations have diverse subsistence patterns, and some are dependent on milk to various extents, not only from cows, but also from other livestock such as camels and goats. We sequenced a 316bp region involved in regulating the expression of the LCT gene on chromosome 2, which encompasses five polymorphisms that have been associated with LP. Pastoralist populations showed a higher frequency of LP-associated alleles compared to non-pastoralist groups, hinting at positive selection also in northeast African pastoralists. There was no incidence of the East African LP allele (−14010:C) in the Sudanese groups, and only one heterozygote individual for the European LP allele (−13910:T), suggesting limited recent admixture from these geographic regions. Among the LP variants, the −14009:G variant occurs at the highest frequency among the investigated populations, followed by the −13915:G variant, which is likely of Middle Eastern origin, consistent with Middle Eastern gene-flow to the Sudanese populations. The Beja population of the Beni Amer show three different LP-variants at substantial and similar levels, resulting in one of the greatest frequencies of LP-variants among all populations across the world.Competing Interest StatementThe authors have declared no competing interest.Introduction Results and Discussion - Allele frequencies - Haplotype Structure - Selection Scan Conclusion Materials and Methods - Phasing and imputation to analyze haplotype structure - Locus specific branch length (LSBL

    Use of matrix-assisted laser desorption ionization-time of flight mass spectrometry to identify vancomycin-resistant enterococci and investigate the epidemiology of an outbreak

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    The control of vancomycin-resistant enterococci (VRE) has become an increasing burden on health care resources since their discovery over 20 years ago. Current techniques employed for their detection include time-consuming and laborious phenotypic methods or molecular methods requiring costly equipment and consumables and highly trained staff. An accurate, rapid diagnostic test has the ability to greatly reduce the spread of this organism, which has the ability to colonize patients for long periods, potentially even lifelong. Matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) is a technology with the ability to identify organisms in seconds and has shown promise in the identification of other forms of antimicrobial resistance in other organisms. Here we show that MALDI-TOF MS is capable of rapidly and accurately identifying vanB-positive Enterococcus faecium VRE from susceptible isolates. Internal validation of the optimal model generated produced a sensitivity of 92.4% and a specificity of 85.2%. Prospective validation results, following incorporation into the routine laboratory work flow, demonstrated a greater sensitivity and specificity at 96.7% and 98.1%, respectively. In addition, the utilization of MALDI-TOF MS to determine the relatedness of isolates contributing to an outbreak is also demonstrated

    Кризис экономики роста как системы: причины и следствия

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    Актуальность данной работы продиктована кризисным состоянием современной модели экономики. В основе этой модели лежат постулаты о необходимости постоянного роста экономики, который обеспечивается за счет конечного потребления. В обеспечение же реализации такой модели положены монетарные подходы и методы стимулирования потребительского спроса как основного драйвера экономического роста. Венцом данной модели стала долговая экономика потребления обществ индивидуалистов, не имеющих системы традиционных ценностей, а ориентирующихся на иллюзорные временные цели краткосрочного периода. Так, эгоцентрическая модель экономики заняла главенствующее положение по отношению к экологической модели экономики, обнажив массу системообразующих противоречий. Будущее оказалось под угрозой… Целью данной работы является анализ исходных причин этих противоречий, факторов возникновения кризисных явлений и угроз, с которыми столкнулось человечество на современном этапе развития, а также возможных альтернатив устранения этих противоречий и угроз. The relevance of this work is dictated by a critical state of the modern model of the economy. The basis of this model is construed by postulates about the need for sustained economic growth, which is provided by end-use. Monetary approaches and methods of consumer demand stimulation as a main incentive of economic growth guarantee the model implementation. On the top of this model there is a debt consumer economy of a society of individualists who do not have a system of traditional values, but instead have illusory short-term goals. Thus, an egocentric model of the economy has taken a dominant position in relation to an ecological economic model, revealing a lot of systemic contradictions. The future was under threat... The aim of this work is the analysis of the causes of these conflicts, the factors of crisis phenomena, the threats, which mankind faced at this stage of development, and the possible ways of elimination of the contradictions and threats as well. Methods: comparative analysis and synthesis of theoretical fundamental economic sources and assumptions, practical research and personal experience of various Russian and foreign scientists and business practitioners, the results, observations and conclusions arising from the personal experience of the author and his own theoretical research and inventions, and analysis of statistical data

    Cancer prevalence in 129 breast-ovarian cancer families tested for BRCA1 and BRCA2 mutations

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    Background. Women who carry germline mutations in the breast-ovarian cancer susceptibility genes, BRCA1 and BRCA2, are at very high risk of developing breast and/or ovarian cancer. Both genes are tumour suppressor genes that protect all cells from deregulation, and there are reports of their involvement in other cancers that vary and seem to depend on the population investigated. It is therefore important to investigate the other associated cancers in different populations to assist with risk assessments. Objectives. To assess the cancer risk profile in BRCA-mutation-positive and negative South African breast-ovarian cancer families, mainly of Caucasian origin. Design. Descriptive study in which the prevalence of all cancers in the pedigrees of BRCA1- and BRCA2-mutation-positive groups and a group of families without mutations in either gene were compared with the general population. Results. As expected, female breast and ovarian cancer was significantly increased in all three groups. Furthermore, male breast cancer was significantly elevated in the BRCA2-positive and BRCA-negative groups. Stomach cancer prevalence was significantly elevated in the BRCA2-positive families compared with the general population. Conclusions. These results can be applied in estimation of cancer risks and may contribute to more comprehensive counselling of mutation-positive Caucasian breast and/or ovarian cancer families

    Correlates of Suicide Ideation and Attempt among Youth Living in the Slums of Kampala

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    While suicidal behavior is recognized as a growing public health problem world-wide, little is known about the prevalence and risk factors for suicidal behaviors among street and slum youth in Africa, and in Uganda, specifically. The number of youth who live on the streets and in the slums of Kampala appears to be growing rapidly, but their mental health needs have not been documented, which has hampered resource allocation and service implementation. This study of youth, ages 14–24, was conducted in May and June of 2011, to assess the prevalence and correlates of suicidal behavior. Participants (N = 457) were recruited for a 30-minute interviewer-administered survey through eight drop-in centers operated by the Uganda Youth Development Link for youth in need of services. Bivariate and multivariate logistic regression analyses were computed to determine associations between psychosocial correlates and suicide ideation and suicide attempt. Reporting both parents deceased Adj.OR = 2.36; 95% CI: 1.23–4.52), parental neglect due to alcohol use (Adj.OR = 2.09; 95% CI: 1.16–3.77), trading sex for food, shelter or money (Adj.OR = 1.95; 95% CI: 1.09–3.51), sadnesss (Adj.OR = 2.42; 95% CI: 1.20–4.89), loneliness (Adj.OR = 2.67; 95% CI: 1.12–6.40) and expectations of dying prior to age 30 (Adj.OR = 2.54; 95% CI: 1.53–4.23) were significantly associated with suicide ideation in multivariate analyses. Parental neglect due to alcohol use (Adj.OR = 2.04; 95% CI: 1.11–3.76), sadness (Adj.OR = 2.42; 95% CI: 1.30–7.87), and expectations of dying prior to age 30 (Adj.OR = 2.18; 95% CI: 1.25–3.79) were significantly associated with suicide attempt in multivariate analyses. Given the dire circumstances of this vulnerable population, increased services and primary prevention efforts to address the risk factors for suicidal behavior are urgently needed

    Infrared thermography fails to visualize stimulation-induced meridian-like structures

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    BACKGROUND: According to Traditional Chinese Medicine (TCM) the vital energy flows through a system of channels also called meridians. Generally accepted proof for meridians cannot be considered as being given. Goal of this study was to examine whether possible stimulation-induced meridian-like structures, as recently described by other authors, can be visualized and objectified simultaneously at different infrared wavelength ranges. METHODS: The study analyses evidence for the existence of acupuncture-specific, meridian-like artifacts in 6 healthy volunteers (mean age ± SD 28.7 ± 3.7 years; range 25 – 35 years). Two infrared cameras at different wavelength ranges were used for thermographic control of possible stimulation effects (moxibustion-cigar, infrared warmth stimulation, needle and laserneedle stimulation). In addition to thermography, temperature and microcirculatory parameters were registered at a selected point using laser-Doppler flowmetry. RESULTS AND CONCLUSION: After moxibustion (or infrared light stimulation) of the body at 2 – 5 μm and 7.5 – 13 μm ranges, different structures appear on thermographic images of the human body which are technical artifacts and which are not identical to what are known as meridians in all textbooks of TCM. Further scientific studies are required regarding the possible visualization of meridians
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