13 research outputs found

    Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement

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    The recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and PMS2 has modified our understanding of carcinogenesis. Inherited loss of function variants in each of these MMR genes cause four dominantly inherited cancer syndromes with different penetrance and expressivities: the four Lynch syndromes. No person has an "average sex "or a pathogenic variant in an "average Lynch syndrome gene" and results that are not stratified by gene and sex will be valid for no one. Carcinogenesis may be a linear process from increased cellular division to localized cancer to metastasis. In addition, in the Lynch syndromes (LS) we now recognize a dynamic balance between two stochastic processes: MSI producing abnormal cells, and the host's adaptive immune system's ability to remove them. The latter may explain why colonoscopy surveillance does not reduce the incidence of colorectal cancer in LS, while it may improve the prognosis. Most early onset colon, endometrial and ovarian cancers in LS are now cured and most cancer related deaths are after subsequent cancers in other organs. Aspirin reduces the incidence of colorectal and other cancers in LS. Immunotherapy increases the host immune system's capability to destroy MSI cancers. Colonoscopy surveillance, aspirin prevention and immunotherapy represent major steps forward in personalized precision medicine to prevent and cure inherited MSI cancer

    Migrant and refugee populations: a public health and policy perspective on a continuing global crisis.

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    The 2015-2017 global migratory crisis saw unprecedented numbers of people on the move and tremendous diversity in terms of age, gender and medical requirements. This article focuses on key emerging public health issues around migrant populations and their interactions with host populations. Basic needs and rights of migrants and refugees are not always respected in regard to article 25 of the Universal Declaration of Human Rights and article 23 of the Refugee Convention. These are populations with varying degrees of vulnerability and needs in terms of protection, security, rights, and access to healthcare. Their health status, initially conditioned by the situation at the point of origin, is often jeopardised by adverse conditions along migratory paths and in intermediate and final destination countries. Due to their condition, forcibly displaced migrants and refugees face a triple burden of non-communicable diseases, infectious diseases, and mental health issues. There are specific challenges regarding chronic infectious and neglected tropical diseases, for which awareness in host countries is imperative. Health risks in terms of susceptibility to, and dissemination of, infectious diseases are not unidirectional. The response, including the humanitarian effort, whose aim is to guarantee access to basic needs (food, water and sanitation, healthcare), is gripped with numerous challenges. Evaluation of current policy shows insufficiency regarding the provision of basic needs to migrant populations, even in the countries that do the most. Governments around the world need to rise to the occasion and adopt policies that guarantee universal health coverage, for migrants and refugees, as well as host populations, in accordance with the UN Sustainable Development Goals. An expert consultation was carried out in the form of a pre-conference workshop during the 4th International Conference on Prevention and Infection Control (ICPIC) in Geneva, Switzerland, on 20 June 2017, the United Nations World Refugee Day

    Goal setting in Dutch paediatric rehabilitation. Are the needs and principal problems of children with cerebral palsy integrated into their rehabilitation goals?

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    Objective: To evaluate whether the needs and principal problems of children with cerebral palsy (CP) as formulated in their interdisciplinary rehabilitation reports are integrated into the goal descriptions and whether this depends on the nature of the needs and problems. Design: Descriptive multiple-case study. Setting: Five Dutch paediatric rehabilitation facilities. Subjects: The rehabilitation profiles of 41 children with cerebral palsy aged between 4 and 8 years. Methods: The raw text data were extracted and organized, after which two raters independently linked the extracted content to the categories of the International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY). Matches between needs, problems and goals were identified by ICF-CY code comparisons. Results: The Cohen's kappas for ICF-CY encoding were all in the range of 'fair to good' (0.52-0.78). For five children (12%) no needs had been formulated and the reports of 10 (24%) were excluded from further analyses as they lacked a principal goal. In the 31 reports analysed, 29 (23%) need constructs and 46 (46%) problem constructs were incorporated into the goals. Of the total of 95 goal constructs 49 (52%) were not related to either a need or a problem construct. No clear relationship could be established between the type of needs and problems and their inclusion or exclusion in the principal goals. Conclusion: Overall, the integration of the needs and principal problems of children with their rehabilitation goals was not optimal. However, integration was difficult to objectify because needs, problems and goals were poorly documented
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