A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium

Genome-wide association studies (GWAS) have been successful in identifying common genetic variation involved in susceptibility to etiologically complex disease. We conducted a GWAS to identify common genetic variation involved in susceptibility to upper aero-digestive tract (UADT) cancers. Genome-wide genotyping was carried out using the Illumina HumanHap300 beadchips in 2,091 UADT cancer cases and 3,513 controls from two large European multi-centre UADT cancer studies, as well as 4,821 generic controls. The 19 top-ranked variants were investigated further in an additional 6,514 UADT cancer cases and 7,892 controls of European descent from an additional 13 UADT cancer studies participating in the INHANCE consortium. Five common variants presented evidence for significant association in the combined analysis (p≤5×10−7). Two novel variants were identified, a 4q21 variant (rs1494961, p = 1×10−8) located near DNA repair related genes HEL308 and FAM175A (or Abraxas) and a 12q24 variant (rs4767364, p = 2×10−8) located in an extended linkage disequilibrium region that contains multiple genes including the aldehyde dehydrogenase 2 (ALDH2) gene. Three remaining variants are located in the ADH gene cluster and were identified previously in a candidate gene study involving some of these samples. The association between these three variants and UADT cancers was independently replicated in 5,092 UADT cancer cases and 6,794 controls non-overlapping samples presented here (rs1573496-ADH7, p = 5×10−8; rs1229984-ADH1B, p = 7×10−9; and rs698-ADH1C, p = 0.02). These results implicate two variants at 4q21 and 12q24 and further highlight three ADH variants in UADT cancer susceptibility.

Species composition and natural infectivity of anthropophilic Anopheles (Diptera: Culicidae) in the states of Córdoba and Antioquia, Northwestern Colombia

Malaria is a serious health problem in the states of Córdoba and Antioquia, Northwestern Colombia, where 64.4% of total Colombian cases were reported in 2007. Because little entomological information is available in this region, the aim of this work was to identify the Anopheles species composition and natural infectivity of mosquitoes distributed in seven localities with highest malaria transmission. A total of 1,768 Anopheles mosquitoes were collected using human landing catches from March 2007-July 2008. Ten species were identified; overall, Anopheles nuneztovari s.l. was the most widespread (62%) and showed the highest average human biting rates. There were six other species of the Nyssorhynchus subgenus: Anopheles albimanus (11.6%), Anopheles darlingi (9.8%), Anopheles braziliensis (6.6%), Anopheles triannulatus s.l. (3.5%), Anopheles albitarsis s.l. and Anopheles oswaldoi s.l. at < 1%; and three of the Anopheles subgenus: Anopheles punctimacula, Anopheles pseudopunctipennis s.l. and Anopheles neomaculipalpusat < 1% each. Two species from Córdoba, An. nuneztovari and An. darlingi, were found to be naturally infected by Plasmodium vivax VK247, as determined by ELISA and confirmed by nested PCR. All species were active indoors and outdoors. These results provide basic information for targeted vector control strategies in these localities.

Identification of reference genes for quantitative RT-PCR in ascending aortic aneurysms.

Hypertension and congenital aortic valve malformations are frequent causes of ascending aortic aneurysms. The molecular mechanisms of aneurysm formation under these circumstances are not well understood. Reference genes for gene activity studies in aortic tissue that are not influenced by aortic valve morphology and its hemodynamic consequences, aortic dilatation, hypertension, or antihypertensive medication are not available so far. This study determines genes in ascending aortic tissue that are independent of these parameters. Tissue specimens from dilated and undilated ascending aortas were obtained from 60 patients (age ≤70 years) with different morphologies of the aortic valve (tricuspid undilated n = 24, dilated n = 11; bicuspid undilated n = 6, dilated n = 15; unicuspid dilated n = 4). Of the studied individuals, 36 had hypertension, and 31 received ACE inhibitors or AT1 receptor antagonists. The specimens were obtained intraoperatively from the wall of the ascending aorta. We analyzed the expression levels of 32 candidate reference genes by quantitative RT-PCR (RT-qPCR). Differential expression levels were assessed by parametric statistics. The expression analysis of these 32 genes by RT-qPCR showed that EIF2B1, ELF1, and PPIA remained constant in their expression levels in the different specimen groups, thus being insensitive to aortic valve morphology, aortic dilatation, hypertension, and medication with ACE inhibitors or AT1 receptor antagonists. Unlike many other commonly used reference genes, the genes EIF2B1, ELF1, and PPIA are neither confounded by aortic comorbidities nor by antihypertensive medication and therefore are most suitable for gene expression analysis of ascending aortic tissue.

Embarazo, parto y puerperio: creencias y prácticas de parteras en San Luis Potosí, México

OBJETIVO: Documentar las creencias y las prácticas de las parteras tradicionales respecto al embarazo parto y puerperio. MÉTODOS: Aprovechando un curso de capacitación de 160 parteras tradicionales locales de las regiones Media y Huasteca del Estado de San Luis Potosí, México, dos de las enfermeras-instructoras entrevistaron a 25 de los capacitandos, apoyadas por un miembro de las comunidades náhuatl y tenek. La identidad de los participantes se mantiene anónima y se obtuvo permiso para publicar los resultados mediante consentimiento informado. RESULTADOS: Las prácticas de las parteras (os) tradicionales son comunes en los grupos sociales que carecen de servicios de salud. Sus funciones no están limitadas al parto e incluyen nutrición, cuidados prenatales, del puerperio y la lactancia, así como apoyo afectivo emocional de las madres parturientas y sus familiares. En este estudio se registraron varios mitos y terapias tradicionales. CONCLUSIÓN: Los recursos de la terapia tradicional y de la atención primaria de la salud de las parteras Náhuatl y Tenek son útiles y benéficos para los cuidados perinatales.

Médecines complémentaires: vers un consensus "evidence-based" à l'hôpital universitaire. [Complementary and alternative medicines (CAM): towards an "evidence-based" consensus in the University hospital]

Après la votation fédérale demandant de prendre en compte les médecines complémentaires, un consensus a été recherché dans quatorze services et unités du Centre hospitalier universitaire vaudois (CHUV). Confrontés aux données de la littérature (Plus de 2000 publications en "Evidence-based complementary medicine" depuis 1998), les soignants étaient tous surpris par l'ampleur des résultats cliniques disponibles actuellement. Tous identifiaient un besoin en formation et en informations sur le sujet. Une prise de position officielle de l'institution était aussi souhaitée, instituant l'enseignement et la recherche sur les médecines complémentaires et assurant la production d'informations rigoureuses et pertinentes pour la clinique. [Abstract] While a popular vote supported a new article on complementary and alternative medicines (CAM) in the Swiss Constitution, this assessment in 14 wards of the University Hospital of Lausanne, Switzerland, attempted at answering the question: How can CAM use be better taken into account and patients informed with more rigor and respect for their choices? Confronted with a review of the literature (> 2000 publications in "Evidence-based cornplementary medicine" since 1998), respondents declared their ignorance of the clinical data presently available on CAM. All were in favour of more teaching and information on the subject, plus an official statement from the Hospital direction, ensuring production and diffusion of rigorous and cJinically significant information on CAM.

Cost-effectiveness of opportunistic versus organised mammography screening in Switzerland

BACKGROUND: Various centralised mammography screening programmes have shown to reduce breast cancer mortality at reasonable costs. However, mammography screening is not necessarily cost-effective in every situation. Opportunistic screening, the predominant screening modality in several European countries, may under certain circumstances be a cost-effective alternative. In this study, we compared the cost-effectiveness of both screening modalities in Switzerland. METHODS: Using micro-simulation modelling, we predicted the effects and costs of biennial mammography screening for 50-69 years old women between 1999 and 2020, in the Swiss female population aged 30-70 in 1999. A sensitivity analysis on the test sensitivity of opportunistic screening was performed. RESULTS: Organised mammography screening with an 80% participation rate yielded a breast cancer mortality reduction of 13%. Twenty years after the start of screening, the predicted annual breast cancer mortality was 25% lower than in a situation without screening. The 3% discounted cost-effectiveness ratio of organised mammography screening was euro11,512 per life year gained. Opportunistic screening with a similar participation rate was comparably effective, but at twice the costs: euro22,671-24,707 per life year gained. This was mainly related to the high costs of opportunistic mammography and frequent use of imaging diagnostics in combination with an opportunistic mammogram. CONCLUSION: Although data on the performance of opportunistic screening are limited, both opportunistic and organised mammography screening seem effective in reducing breast cancer mortality in Switzerland. However, for opportunistic screening to become equally cost-effective as organised screening, costs and use of additional diagnostics should be reduced.

Nationales Krebsprogramm für die Schweiz 2011-2015

Auteurs travaillant au CHUV: Doris Schopper, Roger Stupp, Franz Stiefel, Maya Shaha

La situación de las annonaceae en México: principales plagas, enfermedades y su control

La importancia económica de las especies de la familia Annonaceae en México es diversa y no se restringe a las especies comestibles, pues además incluye especies con propiedades aromáticas para la extracción de aceites esenciales, medicinales, insecticidas y tóxicos a peces. En general esta familia no se ha formalizado agronómica ni económicamente, sin embargo, presenta grandes perspectivas dentro de programas de mejoramiento genético, en el uso como portainjertos o bien como cultivos alternativos. Las principales plagas asociadas al género Annona son: Bephratelloides cubensis Ashmead, Cerconota anonella Sepp., Corythuca gossypii Fab., Planococcus citri, Chrysobotris sp., Talponia batesi Heinrich., Acantocephala femorata Fab.. Las principales enfermedades de las anonáceas reportadas son: Colletotrichum gloeosporioides Penz, Rhizopusstolonifer Ehr., Phyllosticta sp., Pestalotia sp., Macrophoma sp., Fusarium sp y Phytopthora sp.. Siendo la primera la principal enfermedad de mayor importancia en el cultivo del guanábano dado que disminuye el rendimiento y calidad de los frutos. En chirimoyo y guanábano es muy poca la información bibliográfica existente sobre plagas y enfermedades, y en las demás especies de Annona es nula. No se han realizado evaluaciones de las pérdidas que ocasionan las plagas y enfermedades en las Anonáceas, ocasionando un desconocimiento pleno sobre los daños ocasionados por este factor biótico.

Propuesta de un plan de desarrollo integral del guanábano (Annona muricata L.) en el estado de Veracruz México

El estado de Veracruz tiene una superficie de 71' 227 km². Cuenta con una zona potencialmente apta para el cultivo del guanábano de 18' 440 ha, (0.21%), una zona medianamente propicia de 3' 645 324 ha (51.30%) y una zona no apropiada de 3' 458 862 ha, (48.44%). Existen 20 municipios productores de guanábano en el estado de Veracruz. Actualmente la demanda por este producto ha permitido su incremento en superficie estimándose en 800 ha, en estos últimos años. Con un rendimiento aproximado de 5.0 ton/ha, por debajo de la media nacional que es de 6.5 ton/ha, esto refleja la poco tecnología empleada en el manejo del cultivo. Lamentablemente el desarrollo de este frutal en Veracruz se ha realizado de una manera desordenada. Todo ello, sin ninguna planeación y sin un estudio sobre un ordenamiento agroecológico a fin de detectar áreas potencialmente aptas para este cultivo. A pesar de toda esta complejidad se ha llegado a considerar como un frutal digno de atención por las posibilidades agroindustriales que representa. En general son tres los principales puntos prioritarios a tomar en cuenta para esta estrategia de desarrollo: Primero las características genéticas del material de propagación. Segundo las condiciones de sanidad de las plantas, principal factor que podría ser limitativo para el desarrollo del guanábano. Tercero la tecnología de producción. Existe desconocimiento en la lámina e intervalo riego, época; dosis y fuente de fertilización; época y tipo de poda. Existe una gran fortaleza en su aprovechamiento integral de este frutal: comercial, industrial, medicinal, farmacéutico, fitotóxico, alimenticio, entre otras propiedades.