Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia A Global Call to Action

Q1Q1Artículo completoE1-E13IMPORTANCE Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease. Familial hypercholesterolemia affects 1 in 200 to 250 people around the world of every race and ethnicity. The lack of general awareness of FH among the public and medical community has resulted in only 10% of the FH population being diagnosed and adequately treated. The World Health Organization recognized FH as a public health priority in 1998 during a consultation meeting in Geneva, Switzerland. The World Health Organization report highlighted 11 recommendations to address FH worldwide, from diagnosis and treatment to family screening and education. Research since the 1998 report has increased understanding and awareness of FH, particularly in specialty areas, such as cardiology and lipidology. However, in the past 20 years, there has been little progress in implementing the 11 recommendations to prevent premature atherosclerotic cardiovascular disease in an entire generation of families with FH. OBSERVATIONS In 2018, the Familial Hypercholesterolemia Foundation and the World Heart Federation convened the international FH community to update the 11 recommendations. Two meetings were held: one at the 2018 FH Foundation Global Summit and the other during the 2018 World Congress of Cardiology and Cardiovascular Health. Each meeting served as a platform for the FH community to examine the original recommendations, assess the gaps, and provide commentary on the revised recommendations. The Global Call to Action on Familial Hypercholesterolemia thus represents individuals with FH, advocacy leaders, scientific experts, policy makers, and the original authors of the 1998 World Health Organization report. Attendees from 40 countries brought perspectives on FH from low-, middle-, and high-income regions. Tables listing country-specific government support for FH care, existing country-specific and international FH scientific statements and guidelines, country-specific and international FH registries, and known FH advocacy organizations around the world were created. CONCLUSIONS AND RELEVANCE By adopting the 9 updated public policy recommendations created for this document, covering awareness; advocacy; screening, testing, and diagnosis; treatment; family-based care; registries; research; and cost and value, individual countries have the opportunity to prevent atherosclerotic heart disease in their citizens carrying a gene associated with FH and, likely, all those with severe hypercholesterolemia as well

La médecine générale vue par la presse écrite grand public (la crise, rien que la crise !)

Cet article analyse la représentation de la médecine générale et des médecins généralistes dans la presse écrite grand public à partir d une étude qualitative des quatre quotidiens français les plus lus. L analyse de 348 articles publiés durant l année 2010 montre que la presse écrite a une vision superficielle de la médecine générale, réduite à une double crise. D une part, elle apporte une incompréhension entre les médecins généralistes et la société, témoignant d une crise identitaire. D autre part, elle fait état d une crise des régulations liées à une formation médicale inadaptée, à un exercice contraignant et peu valorisé, à une situation démographique préoccupante et aux nombreux conflits liés à un encadrement réglementaire croissant. L étendue (diversité) et la profondeur (complexité) de l exercice de la médecine générale sont sous-estimées et l expertise des médecins généralistes est insuffisamment reconnue. Les solutions de sortie de crise sont peu relayées par la presse écrite.LYON1-BU Santé (693882101) / SudocSudocFranceF

Connaissances et savoir-faire déclarés des internes de médecine générale en matière de contraception : une étude menée en subdivision d’internat de Poitou-Charentes (France)

Contexte : La contraception est un domaine important dans le cadre du programme que suivent les internes du diplôme d’études spécialisées (DES) de médecine générale. But : Recueillir les connaissances et savoir-faire déclarés des internes du DES de médecine générale en matière de contraception et identifier leurs besoins de formation dans ce domaine. Méthodes : Nous avons interrogé des internes du DES de médecine générale à l’aide d’un questionnaire administré en ligne sur internet. Les items utilisés ont été déterminés à l’issue d'une démarche de consensus formalisé en recourant à un panel d’experts. Résultats : Aucun des dix-sept items de connaissances et de savoir-faire testés n’était significativement mieux maitrisé par les internes de médecine générale de troisième année par rapport aux internes de première année. Notre travail met en évidence un manque important déclaré de connaissances et d’habiletés des internes dans le domaine de la contraception. Conclusion : Ce travail préliminaire permet de considérer des objectifs pédagogiques qui devront être planifiés dans le cadre d’un programme dédié à l’enseignement de la santé sexuelle

Long-term effect of apomorphine infusion in advanced Parkinson’s disease: a real-life study

Abstract Long-term effects of continuous subcutaneous apomorphine infusion (CSAI) on health-related quality of life (HRQoL) and predictors of CSAI discontinuation are poorly known. Data from consecutive advanced Parkinson’s disease patients treated in routine care were retrospectively collected over 24 months after CSAI initiation, with a focus on the 39-item Parkinson’s disease questionnaire (PDQ-39). We determined predictors of CSAI discontinuation and HRQoL improvement using multiple regression analysis. Of the 110 subjects evaluated over a 2-year period, 35% discontinued CSAI. Of those who continued treatment, HRQoL remained stable with a sustained reduction in motor fluctuations. The observed effect on dyskinesias was mild and transient. Of note, patients with preexisting impulse control disorders showed an overall good tolerability. PDQ-39 was the only baseline predictor of HRQoL improvement after 2 years of treatment. The presence of dyskinesias, poorer psychological status, shorter disease duration, male sex, and worse OFF state were predictors of discontinuation. Best candidates for CSAI are patients with: (i) poor baseline HRQoL and (ii) marked motor fluctuations

Impact of the COVID-19 pandemic on disease stage and treatment for patients with pancreatic adenocarcinoma: A French comprehensive multicentre ambispective observational cohort study (CAPANCOVID)

International audienceBackground: The COVID-19 pandemic caused major oncology care pathway disruption. The CAPANCOVID study aimed to evaluate the impact on pancreatic adenocarcinoma (PA) - from diagnosis to treatment - of the reorganisation of the health care system during the first lockdown.Methods: This multicentre ambispective observational study included 833 patients diagnosed with PA between September 1, 2019 and October 31, 2020 from 13 French centres. Data were compared over three periods defined as before the outbreak of COVID-19, during the first lockdown (March 1 to May 11, 2020) and after lockdown.Results: During the lockdown, mean weekly number of new cases decreased compared with that of pre-pandemic levels (13.2 vs. 10.8, -18.2%; p = 0.63) without rebound in the post-lockdown period (13.2 vs. 12.9, -1.7%; p = 0.97). The number of borderline tumours increased (13.6%-21.7%), whereas the rate of metastatic diseases rate dropped (47.1%-40.3%) (p = 0.046). Time-to-diagnosis and -treatment were not different over periods. Waiting neoadjuvant chemotherapy in resectable tumours was significantly favoured (24.7%-32.6%) compared with upfront surgery (13%-7.8%) (p = 0.013). The use of mFOLFIRINOX preoperative chemotherapy regimen decreased (84.9%-69%; p = 0.044). After lockdown, the number of borderline tumours decreased (21.7%-9.6%) and advanced diseases increased (59.7%-69.8%) (p = 0.046). SARS-CoV-2 infected 39 patients (4.7%) causing 5 deaths (12.8%).Conclusion: This cohort study suggests the existence of missing diagnoses and of a shift in disease stage at diagnosis from resectable to advanced diseases with related therapeutic modifications whose prognostic consequences will be known after the planned follow-up.Trial registration: Clinicaltrials.gov NCT04406571