Estudio de sensibilidad de amebas de vida libre a distintos agentes desinfectantes

76 p.Las amebas de vida libre (AVL) son protozoos que se desarrollan en variados ambientes, principalmente, en aguas temperadas que se mantienen relativamente inmóviles como las piscinas, lagunas y estanques. Existen numerosas AVL en el suelo y en el agua del medio ambiente, pero solamente especies de los géneros Naegleria, Vahlkampfia, Acanthamoeba, Balamuthia y Hartmannella han sido encontrados en pacientes humanos. Una de las principales características de las amebas en estudio es que son resistentes a los desinfectantes, a los cambios de temperatura y a la desecación. Estudios revelan que han sido identificadas incluso en el hielo polar. El objetivo principal de este trabajo fue determinar la resistencia de AVL, a distintos agentes desinfectantes para evaluar el grado de resistencia de cada género. La metodología utilizada en este estudio comenzó aislando AVL obtenidas de cultivos positivos de muestras de agua, las que se cultivaron en un medio no nutritivo, para luego de varias etapas obtener cultivos axénicos de cada género y a continuación ser sometidas a distintos desinfectantes en distintas concentraciones visualizando el efecto de estos por la técnica de difusión en pocillo. Podemos concluir a partir de esta larga investigación que el mejor agente desinfectante contra las AVL es el alguicida, siendo altamente efectivo en el 100% de las muestras. Además podemos decir que los principales agentes desinfectantes que se utilizan comúnmente para la desinfección de las aguas como el cloro, bromo, yodo y cobre, no son efectivos contra la erradicación de las AVL. Por lo tanto a partir de este estudio se deja de manifiesto que el alguicida es un potente agente eliminador de AVL de bajo costo, el que podría ser evaluado como un posible desinfectante de las aguas de Chile

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

AbstractThe activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of the cytidine deaminase family. We herein report mutations in the human counterpart of AID in patients with the autosomal recessive form of hyper-IgM syndrome (HIGM2). Three major abnormalities characterize AID deficiency: (1) the absence of immunoglobulin class switch recombination, (2) the lack of immunoglobulin somatic hypermutations, and (3) lymph node hyperplasia caused by the presence of giant germinal centers. The phenotype observed in HIGM2 patients (and in AID−/− mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses

Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population

IntroductionMetastatic breast cancer causes the most breast cancer-related deaths around the world, especially in countries where breast cancer is detected late into its development. Genetic testing for cancer susceptibility started with the BRCA 1 and 2 genes. Still, recent research has shown that variations in other members of the DNA damage response (DDR) are also associated with elevated cancer risk, opening new opportunities for enhanced genetic testing strategies.MethodsWe sequenced BRCA1/2 and twelve other DDR genes from a Mexican-mestizo population of 40 metastatic breast cancer patients through semiconductor sequencing.ResultsOverall, we found 22 variants –9 of them reported for the first time– and a strikingly high proportion of variations in ARID1A. The presence of at least one variant in the ARID1A, BRCA1, BRCA2, or FANCA genes was associated with worse progression-free survival and overall survival in our patient cohort.DiscussionOur results reflected the unique characteristics of the Mexican-mestizo population as the proportion of variants we found differed from that of other global populations. Based on these findings, we suggest routine screening for variants in ARID1A along with BRCA1/2 in breast cancer patients from the Mexican-mestizo population

A relational analysis of an invisible illness: A meta-ethnography of people with chronic fatigue syndrome/myalgic encephalomyelitis and their support needs

Chronic fatigue syndrome (CFS)/myalgic encephalomyelitis (ME) is indicated by prolonged, medically unexplained fatigue (amongst other symptoms), not alleviated by rest, and causing substantial disability. There are limited treatments on offer, which may not be effective and/or acceptable for all people, and treatment views are polarised. We, thus, aimed to take a step back from this debate, to explore more broadly preferences for formal and informal support among people with CFS/ME. We used a meta-ethnography approach to examine the substantial qualitative literature available. Using the process outlined by Noblit and Hare, and guided by patient involvement throughout, 47 studies were analysed. Our synthesis suggested that to understand people with CFS/ME (such as their invisibility, loss of self, and fraught clinical encounters), it was useful to shift focus to a ‘relational goods’ framework. Emotions and tensions encountered in CFS/ME care and support only emerge via ‘sui generis’ real life interactions, influenced by how social networks and health consultations unfold, and structures like disability support. This relational paradigm reveals the hidden forces at work producing the specific problems of CFS/ME, and offers a ‘no blame’ framework going forward. Chronic fatigue syndrome; myalgic encephalomyelitis; meta-ethnography: qualitative; relational goods; social support; Users' Experience

Rôle de l'Activation Induced cytidine Deaminase (AID) dans la maturation terminale des lymphocytes B (apport de l'étude des syndromes d'Hyper-IgM)

PARIS7-Bibliothèque centrale (751132105) / SudocSudocFranceF