51 research outputs found

    The role of the genetic counsellor: a systematic review of research evidence

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    In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and facilitation of psychosocial adjustment of the client to their genetic status and situation. To evaluate the extent to which genetic counsellors fulfil their prescribed roles, we conducted a systematic review of the published relevant scientific evidence. We searched five relevant electronic databases (Medline, CINAHL, SocIndex, AMED and PsychInfo) using relevant search terms and handsearched four subject-specific journals for research-based papers published in English between 1 January 2000 and 30 June 2013. Of 419 potential papers identified initially, seven satisfied the inclusion criteria for the review. Themes derived from the thematic analysis of the data were: (i) rationale for genetic counsellors to provide care, (ii) appropriate roles and responsibilities and (iii) the types of conditions included in the genetic counsellor caseload. The findings of this systematic review indicate that where genetic counsellors are utilised in specialist genetic settings, they undertake a significant workload associated with direct patient care and this appears to be acceptable to patients. With the burden on genetic services, there is an argument for the increased use of genetic counsellors in countries where they are under-utilised. In addition, roles undertaken by genetic counsellors in specialist genetic settings could be adapted to integrate genetic counsellors into multi-disciplinary teams in other specialisms

    Dynamic purine signaling and metabolism during neutrophil–endothelial interactions

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    During episodes of hypoxia and inflammation, polymorphonuclear leukocytes (PMN) move into underlying tissues by initially passing between endothelial cells that line the inner surface of blood vessels (transendothelial migration, TEM). TEM creates the potential for disturbances in vascular barrier and concomitant loss of extravascular fluid and resultant edema. Recent studies have demonstrated a crucial role for nucleotide metabolism and nucleoside signaling during inflammation. These studies have implicated multiple adenine nucleotides as endogenous tissue protective mechanisms invivo. Here, we review the functional components of vascular barrier, identify strategies for increasing nucleotide generation and nucleoside signaling, and discuss potential therapeutic targets to regulate the vascular barrier during inflammation

    Intraperitoneal drain placement and outcomes after elective colorectal surgery: international matched, prospective, cohort study

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    Despite current guidelines, intraperitoneal drain placement after elective colorectal surgery remains widespread. Drains were not associated with earlier detection of intraperitoneal collections, but were associated with prolonged hospital stay and increased risk of surgical-site infections.Background Many surgeons routinely place intraperitoneal drains after elective colorectal surgery. However, enhanced recovery after surgery guidelines recommend against their routine use owing to a lack of clear clinical benefit. This study aimed to describe international variation in intraperitoneal drain placement and the safety of this practice. Methods COMPASS (COMPlicAted intra-abdominal collectionS after colorectal Surgery) was a prospective, international, cohort study which enrolled consecutive adults undergoing elective colorectal surgery (February to March 2020). The primary outcome was the rate of intraperitoneal drain placement. Secondary outcomes included: rate and time to diagnosis of postoperative intraperitoneal collections; rate of surgical site infections (SSIs); time to discharge; and 30-day major postoperative complications (Clavien-Dindo grade at least III). After propensity score matching, multivariable logistic regression and Cox proportional hazards regression were used to estimate the independent association of the secondary outcomes with drain placement. Results Overall, 1805 patients from 22 countries were included (798 women, 44.2 per cent; median age 67.0 years). The drain insertion rate was 51.9 per cent (937 patients). After matching, drains were not associated with reduced rates (odds ratio (OR) 1.33, 95 per cent c.i. 0.79 to 2.23; P = 0.287) or earlier detection (hazard ratio (HR) 0.87, 0.33 to 2.31; P = 0.780) of collections. Although not associated with worse major postoperative complications (OR 1.09, 0.68 to 1.75; P = 0.709), drains were associated with delayed hospital discharge (HR 0.58, 0.52 to 0.66; P < 0.001) and an increased risk of SSIs (OR 2.47, 1.50 to 4.05; P < 0.001). Conclusion Intraperitoneal drain placement after elective colorectal surgery is not associated with earlier detection of postoperative collections, but prolongs hospital stay and increases SSI risk

    Itinerário percorrido pelas mulheres na descoberta do câncer Camino recorrido por las mujeres en la descubierta del cáncer The journey experienced by women through a cancer diagnosis

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    Este estudo se propõe a desvelar o itinerário vivenciado pelas mulheres no processo de descoberta do diagnóstico de câncer. Como estratégia teórico-metodológica, foram utilizados o Interacionismo Simbólico e a Grounded Theory. Foram informantes do estudo 20 indivíduos 10 mulheres portadoras de câncer e seus respectivos familiares significantes. Os resultados mostram desde o momento em que elas vivenciam as primeiras percepções sobre a alteração fisiológica em seu corpo, passando pela busca de ajuda profissional, até o recebimento do diagnóstico de câncer. O itinerário apresentado permite conhecer aspectos da realidade experienciada anteriormente ao recebimento do diagnóstico e ressalta a importância de os profissionais valorizarem mais as queixas das pessoas que os procuram, percebendo que se esta procura aconteceu é porque a pessoa está preocupada. Esta atitude pode favorecer a identificação precoce do problema e, por conseguinte, garantir melhor prognóstico e qualidade de vida.<br>Este estudio propone revelar el camino vivido por las mujeres en el proceso de descubierta del diagnóstico de cáncer. Como estrategia teórico-metodológica fueron utilizados el Interaccionismo Simbólico y la Grounded Theory. Fueron investigados durante el estudio 20 individuos 10 mujeres portadoras de cáncer y sus respectivos familiares próximos. Los resultados muestran desde el momento en que ellas notan las primeras diferencias sobre la alteración fisiológica en su cuerpo, pasando por la búsqueda de ayuda profesional hasta el recibimiento del diagnóstico de cáncer. El camino presentado permite conocer aspectos de la realidad vivida anteriormente al recibimiento del diagnóstico y resalta la importancia de que los profesionales valoren más las quejas de las personas que los buscan, percibiendo que si esta búsqueda ocurrió es porque la persona está preocupada. Esta actitud puede facilitar la identificación precoz del problema y, por consiguiente, garantizar un mejor pronóstico y una mejor calidad de vida.<br>This study intends to reveal the journey experienced by women in the process of facing a cancer diagnosis. Symbolic Interactionism and Grounded Theory were used as theoretical-methodological strategies. Twenty individuals took part in the study - 10 female cancer bearers and their respective significant others. The results are described starting from the moment they experience their first perceptions of the physiologic changes in their bodies, through the search for professional help, to the acknowledgement of a cancer diagnosis. The given itinerary presents aspects of the patients' reality prior to the diagnosis, and emphasizes the importance of professionals giving more credence to the complaints of patients who seek them if the patient made an appointment, it is because that person is concerned. This attitude can promote the early identification of the problem, and consequently guarantee a better prognosis and quality of life
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