18 research outputs found

    First Colombian Multicentric Newborn Screening for Congenital Toxoplasmosis

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    Congenital toxoplasmosis can result in permanent sequel as blindness or neurological damage in children and it seems to be more severe in South America than in other continents. There is a lack of information about this frequency in Colombia, where no control program is established, although it is a recognized cause of potentially preventable congenital blindness. We propose the first Colombian multicentric study to determine the frequency and impact of congenital toxoplasmosis. More than 15,000 newborns in seven cities were studied. Newborns were tested at birth by doing a cord blood test for toxoplasmosis. Additionally, children from mothers with history of toxoplasmosis acquired during pregnancy were recalled for a follow-up. The program identified fifteen children otherwise undiagnosed; three of these children died as consequence of congenital toxoplasmosis. The frequency of the congenital infection varied significantly between cities, being higher in Armenia and Florencia, intermediate in Bogota, Bucaramanga and Barranquilla and very low in western cities such as Cucuta and Riohacha. For the first time a significant correlation was found between mean rainfall at the city and the incidence of this congenital infection

    Natural History of MYH7-Related Dilated Cardiomyopathy

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    BACKGROUND: Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVE: We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS: We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 ± 19.2 years) recruited from 29 international centers. RESULTS: At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% ± 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of ≤35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS: MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare

    Nurses' perceptions of aids and obstacles to the provision of optimal end of life care in ICU

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    Contains fulltext : 172380.pdf (publisher's version ) (Open Access

    The Helicobacter pylori Genome Project : insights into H. pylori population structure from analysis of a worldwide collection of complete genomes

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    Helicobacter pylori, a dominant member of the gastric microbiota, shares co-evolutionary history with humans. This has led to the development of genetically distinct H. pylori subpopulations associated with the geographic origin of the host and with differential gastric disease risk. Here, we provide insights into H. pylori population structure as a part of the Helicobacter pylori Genome Project (HpGP), a multi-disciplinary initiative aimed at elucidating H. pylori pathogenesis and identifying new therapeutic targets. We collected 1011 well-characterized clinical strains from 50 countries and generated high-quality genome sequences. We analysed core genome diversity and population structure of the HpGP dataset and 255 worldwide reference genomes to outline the ancestral contribution to Eurasian, African, and American populations. We found evidence of substantial contribution of population hpNorthAsia and subpopulation hspUral in Northern European H. pylori. The genomes of H. pylori isolated from northern and southern Indigenous Americans differed in that bacteria isolated in northern Indigenous communities were more similar to North Asian H. pylori while the southern had higher relatedness to hpEastAsia. Notably, we also found a highly clonal yet geographically dispersed North American subpopulation, which is negative for the cag pathogenicity island, and present in 7% of sequenced US genomes. We expect the HpGP dataset and the corresponding strains to become a major asset for H. pylori genomics

    Agudeza visual, error refractivo, curvatura corneal, visión cromática y estereopsis en niños entre tres y siete años en la localidad de Chapinero de la ciudad de Bogotá

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    Objetivo: determinar los valores de referencia de agudeza visual, estado refractivo, curvatura corneal, estereopsis y visión cromática en niños entre tres y siete años en la localidad de Chapinero de la ciudad de Bogotá. Materiales y métodos: estudio observacional descriptivo de corte transversal. La población de estudio fueron escolares de tres a siete años (doscientos niños). Las mediciones incluyeron agudeza visual (AV) con los test Lea Symbols y HOTV, refracción bajo cicloplejia, queratometría con el autoqueratómetro Nidek modelo KM 500, visión cromática con el Color Vision Testing Made Easy y estereopsis con test de Randot. Resultados: la agudeza visual mediana en todos los grupos de edad fue de 0,00 (20/20). El 100 % de los niños presentaron hipermetropía (equivalente esférico para astígmatas hasta de 1,00 Dpt). El error refractivo mediano fue de + 0,75 en los grupos de tres y cuatro años, + 0,50 en los grupos de cinco y seis años y + 0,62 en los grupos de siete años. La curvatura corneal mediana en el meridiano horizontal fue de 42,62 y 41,50 para el meridiano vertical de tres y cuatro años, 42,75 para el meridiano horizontal y 43,75 para el vertical de cinco y seis años, y 41,50 y 42,50 para los siete años. Todos presentaron visión cromática normal. La estereopsis mediana fue de veinticinco segundos de arco de tres y cuatro años, veinte segundos de arco de cinco y seis años y veinticinco para el grupo de siete años

    A Coffee Berry Borer (Coleoptera: Curculionidae: Scolytinae) Bibliography

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    Native to Africa, the coffee berry borer, Hypothenemus hampei (Ferrari) (Coleoptera: Curculionidae: Scolytinae), has gradually invaded most coffee-growing areas worldwide. Adult females colonize the coffee berry and oviposit within galleries in the coffee seeds. Larvae and adults consume the seeds, resulting in drastic reductions in yields and quality, negatively affecting the income of approximately 20 million coffee-growing families (~100 million people) in ~80 countries, with losses surpassing more than $500 million annually (Vega et al. 2015). It has become evident that the coffee berry borer scientific community could greatly benefit from having access to a bibliography of the literature related to the insect. Such an information source would allow scientists to find out what research areas have been explored throughout the many coffee berry borer-infested countries after more than 100 years of research on the topic. It could also help to direct lead future research efforts into novel areas, and away from topics and ideas that have been thoroughly investigated in the past
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