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See detailSystems medicine approaches for the definition of complex phenotypes in chronic diseases and ageing. From concept to implementation and policies.
Bousquet, Jean; Jorgensen, Christian; Dauzat, Michel et al

in Current pharmaceutical design (2014), 20(38), 5928-44

Chronic diseases are diseases of long duration and slow progression. Major NCDs (cardiovascular diseases, cancer, chronic respiratory diseases, diabetes, rheumatologic diseases and mental health ... [more ▼]

Chronic diseases are diseases of long duration and slow progression. Major NCDs (cardiovascular diseases, cancer, chronic respiratory diseases, diabetes, rheumatologic diseases and mental health) represent the predominant health problem of the Century. The prevention and control of NCDs are the priority of the World Health Organization 2008 Action Plan, the United Nations 2010 Resolution and the European Union 2010 Council. The novel trend for the management of NCDs is evolving towards integrative, holistic approaches. NCDs are intertwined with ageing. The European Innovation Partnership on Active and Healthy Ageing (EIP on AHA) has prioritised NCDs. To tackle them in their totality in order to reduce their burden and societal impact, it is proposed that NCDs should be considered as a single expression of disease with different risk factors and entities. An innovative integrated health system built around systems medicine and strategic partnerships is proposed to combat NCDs. It includes (i) understanding the social, economic, environmental, genetic determinants, as well as the molecular and cellular mechanisms underlying NCDs; (ii) primary care and practice-based interprofessional collaboration; (iii) carefully phenotyped patients; (iv) development of unbiased and accurate biomarkers for comorbidities, severity and follow up of patients; (v) socio-economic science; (vi) development of guidelines; (vii) training; and (viii) policy decisions. The results could be applicable to all countries and adapted to local needs, economy and health systems. This paper reviews the complexity of NCDs intertwined with ageing. It gives an overview of the problem and proposes two practical examples of systems medicine (MeDALL) applied to allergy and to NCD co-morbidities (MACVIA-LR, Reference Site of the European Innovation Partnership on Active and Healthy Ageing). [less ▲]

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See detailLean mass plays a gender-specific role in familial resemblance for femoral neck bone mineral density in adult subjects
Blain, Hubert; Vuillemin, Anne; Guillemin, Francis et al

in Osteoporosis International (2006), 17(6), 897-907

Introduction Whether the femoral neck bone mineral density (FN BMD) of children may be better predicted from that of their parents when taking into account the anthropometry of the children was assessed ... [more ▼]

Introduction Whether the femoral neck bone mineral density (FN BMD) of children may be better predicted from that of their parents when taking into account the anthropometry of the children was assessed in a healthy adult sample consisting of 86 mother-daughter, 32 mother-son, 32 father-daughter, and 23 father-son pairs from 128 families. Heritability for FN BMD, which is considered to be a measurement of general resemblance, was defined as the regression coefficient of the mean of the parents’ BMD. Among the anthropometric factors, lean mass was the most strongly associated with FN BMD following the adjustment for age in women (r=0.52, p<0.0001) and men (r=0.25, p=0.02). After adjustment for age, calcium intake, physical activity, and menopause and hormonal replacement therapy if relevant, heritability estimates (h2) for FN BMD were 0.68±0.23 [95% credible interval (CI): 0.15–0.99] in father-daughter pairs, 0.40±0.17 (95% CI: 0.08–0.74) in mother-daughter pairs, and 0.19±0.15 (95% CI: 0.01–0.57) in father-son pairs. Adjustment for lean mass of children increased the h2 for FN BMD in mother-son pairs [from 0.24±0.17 (95% CI: 0.01–0.57) to 0.66±0.18 (95% CI: 0.26–0.95)]. The present results show that FN BMD is heritable in adult father-daughter pairs (7.2% of a daughter’s FN BMD variance was explained by the father’s FN BMD) and that taking into account the lean mass of sons might improve the prediction of their FN BMD based on that of their mother’s (reduction of sons’ FN BMD residual variance by 5.1%). Taking the lean mass of children into account might improve the prediction of their FN BMD by 9.1% in daughters and by 18.1% in sons, irrespective of their parent’s FN BMD. These results, obtained using a Bayesian regression model, have to be confirmed in further studies involving a greater number of adult parent-offspring pairs of both genders before extrapolation to clinical practice. [less ▲]

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