We sought to ascertain the long-term outcome and genotype-phenotype correlations available for primary hyperoxaluria type 1 in a large retrospective cohort study. We examined the clinical history of 155 patients (129 families primarily from Western Europe, North Africa, or the Middle East) as well as the enzymatic or genetic diagnosis. The median age at first symptom was 4 years, and at diagnosis 7.7 years, at which time 43% had reached end-stage renal disease. Presentations included: (1) early nephrocalcinosis and infantile renal failure, (2) recurrent urolithiasis and progressive renal failure diagnosed during childhood, (3) late onset with occasional stone passage diagnosed in adulthood, (4) diagnosis occurring on post-transplantation recurrence, and (5) family screening. The cumulative patient survival was 95, 86, and 74% at ages 10, 30, and 50 years, respectively, with the cumulative renal survival of 81, 59, 41, and 10% at ages 10, 20, 30, and 50 years, respectively; 72 patients had undergone a total of 97 transplantations. Among the 136 patients with DNA analysis, the most common mutation was p.Gly170Arg (allelic frequency 21.5%), with a median age at end-stage renal disease of 47 years for homozygotes, 35 years for heterozygotes, and 21 years for other mutations. Our results underscore the severe prognosis of primary hyperoxaluria type 1 and the necessity for early diagnosis and treatment, as well as confirm a better prognosis of the p.Gly170Arg mutation.

Objective Patients with systemic sclerosis and both pulmonary hypertension and interstitial lung disease (SSc–PH‐ILD) generally carry a worse prognosis than patients with SSc and pulmonary arterial hypertension (SSc‐PAH) without ILD. There is no evidence of the efficacy of PAH therapies in SSc–PH‐ILD. We undertook this study to compare survival of and response to treatment in patients with SSc–PH‐ILD and those with SSc‐PAH. Methods We analyzed 128 patients (66 with SSc–PH‐ILD and 62 with SSc‐PAH) from 15 centers, in whom PH was diagnosed by right‐sided heart catheterization; they were prospectively included in the PH registry. All patients received PAH‐specific therapy. Computed tomography of the chest was used to confirm or exclude ILD. Results At baseline, patients with SSc–PH‐ILD had less severe hemodynamic impairment than those with SSc‐PAH (pulmonary vascular resistance 5.7 Wood units versus 8.7 Wood units; P = 0.0005) and lower diffusing capacity for carbon monoxide (median 25% [interquartile range (IQR) 18%, 35%] versus 40% [IQR 31%, 51%]; P = 0.0005). Additionally, patients with SSc–PH‐ILD had increased mortality (8.1% at 1 year, 21.2% at 2 years, and 41.5% at 3 years) compared to those with SSc‐PAH (4.1%, 8.7%, and 21.4%, respectively; P = 0.04). Upon treatment with PAH‐targeted therapy, no improvement in the 6‐minute walk distance was observed in either group. Improvement in the World Health Organization functional class was observed less frequently in patients with SSc–ILD‐PH compared to those with SSc‐PAH (13.6% versus 33.3%; P = 0.02). Hemodynamics improved similarly in both groups. Conclusion ILD confers a worse prognosis to SSc‐PH. Response to PAH‐specific therapy is clinically poor in SSc–PH‐ILD but was not found to be hemodynamically different from the response observed in SSc‐PAH.

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Background Public awareness of stroke symptoms is a key factor to ensure access to reperfusion strategies in due time. We designed and launched a regional theory-informed and user-centered information campaign and assessed its impact on emergency medical services (EMS) calls for stroke suspicion, time-to-call, and public attitudes and awareness concerning stroke. Methods A controlled before-and-after study was conducted during 3 sequential time-periods in 2 separate counties. Key messages of the campaign were underpinned by stroke representations and the theory of planned behavior, and focused on recognition of stroke warning signs and the need to call EMS urgently. The campaign included posters, leaflets, adverts and films displayed in bus and subway stations, internet, social networks, and local radio. Outcome measures on behavior, attitudes, and knowledge were assessed before the launch of the campaign, at 3 months, and 12 months. Results The number of EMS calls for stroke suspicion increased by 21% at 12 months in the intervention county and this change was significantly different to that observed in the control county (p = 0.02). No significant changes were observed regarding self-reported attitudes in case of stroke. An 8% significant increase in recognizing at least 2 stroke warning signs was observed in the intervention county (p = 0.04) at 3 months, while it did not change significantly in the control county (p = 0.6). However, there was no significant difference in warning sign recognition between both counties (p = 0.16). Conclusion The campaign significantly improved public’s behavior of calling EMS, although stroke knowledge was not improved as much as expected. Repeating these campaigns over time might further help improve timeliness and access to reperfusion strategies. Trial registration Clinical Trial Registration-URL: http://www.clinicaltrials.gov. Unique identifier: NCT02846363.

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Person-centered care has led healthcare professionals (HCPs) to be more attentive to patients’ ability to understand and apply health-related information, especially those with chronic conditions. The concept of health literacy (HL) is essential in understanding patients’ needs in routine care, but its measurement is still controversial, and few tools are validated in French. We therefore considered the brief health literacy screen (BHLS) for assessing patient-reported HL in chronic care settings, and also developed an HCP-reported version of the BHLS with the aim of using it as a research instrument to assess HCPs’ evaluation of patients’ HL levels. We assessed the content validity of the French translation of both the patient-reported and HCP-reported BHLS in chronic care within hospital settings, through cognitive interviews with patients and HCPs. We performed qualitative analysis on interview data using the survey response Tourangeau model. Our results show that the BHLS is easy and quick to administer, but some terms need to be adapted to the French chronic care settings. Health-related information was observed to be mainly communicated orally, hence a useful direction for future literacy measures would be to also address verbal HL.

Background Colorectal cancer (CRC) is a leading cause of cancer burden worldwide. In France, it is the second most common cause of cancer death after lung cancer. Systematic uptake of CRC screening can improve survival rates. However, people with limited health literacy (HL) and lower socioeconomic position rarely participate. Our aim is to assess the impact of an intervention combining HL and CRC screening training for general practitioners (GPs) with a pictorial brochure and video targeting eligible patients, to increase CRC screening and other secondary outcomes, after 1 year, in several underserved geographic areas in France. Methods We will use a two-arm multicentric randomized controlled cluster trial with 32 GPs primarily serving underserved populations across four regions in France with 1024 patients recruited. GPs practicing in underserved areas (identified using the European Deprivation Index) will be block-randomized to: 1) a combined intervention (HL and CRC training + brochure and video for eligible patients), or 2) usual care. Patients will be included if they are between 50 and 74 years old, eligible for CRC screening, and present to recruited GPs. The primary outcome is CRC screening uptake after 1 year. Secondary outcomes include increasing knowledge and patient activation. After trial recruitment, we will conduct semi-structured interviews with up to 24 GPs (up to 8 in each region) and up to 48 patients (6 to 12 per region) based on data saturation. We will explore strategies that promote the intervention’s sustained use and rapid implementation using Normalization Process Theory. We will follow a community-based participatory research approach throughout the trial. For the analyses, we will adopt a regression framework for all quantitative data. We will also use exploratory mediation analyses. We will analyze all qualitative data using a framework analysis guided by Normalization Process Theory. Discussion Limited HL and its impact on the general population is a growing public health and policy challenge worldwide. It has received limited attention in France. A combined HL intervention could reduce disparities in CRC screening, increase screening rates among the most vulnerable populations, and increase knowledge and activation (beneficial in the context of repeated screening). Trial registration Registry: ClinicalTrials.gov. Trial registration number: 2020-A01687-32. Date of registration: 17th November 2020.

Background Optimizing access to recanalization therapies in acute ischemic stroke patients is crucial. Our aim was to measure the short and long term effectiveness, at the acute phase and 1 year after stroke, of four sets of actions implemented in the Rhône County. Methods The four multilevel actions were 1) increase in stroke units bed capacity and development of endovascular therapy; 2) improvement in knowledge and skills of healthcare providers involved in acute stroke management using a bottom-up approach; 3) development and implementation of new organizations (transportation routes, pre-notification, coordination by the emergency call center physician dispatcher); and 4) launch of regional public awareness campaigns in addition to national campaigns. A before-and-after study was conducted with two identical population-based cohort studies in 2006–7 and 2015–16 in all adult ischemic stroke patients admitted to any emergency department or stroke unit of the Rhône County. The primary outcome criterion was in-hospital management times, and the main secondary outcome criteria were access to reperfusion therapy (either intravenous thrombolysis or endovascular treatment) and pre-hospital management times in the short term, and 12-month prognosis measured by the modified Rankin Scale (mRS) in the long term. Results Between 2015–16 and 2006–7 periods ischemic stroke patients increased from 696 to 717, access to reperfusion therapy increased from 9 to 23% (p < 0.0001), calls to emergency call-center from 40 to 68% (p < 0.0001), first admission in stroke unit from 8 to 30% (p < 0.0001), and MRI within 24 h from 18 to 42% (p < 0.0001). Onset-to-reperfusion time significantly decreased from 3h16mn [2 h54-4 h05] to 2h35mn [2 h05-3 h19] (p < 0.0001), mainly related to a decrease in delay from admission to imaging. A significant decrease of disability was observed, as patients with mild disability (mRS [0–2]) at 12 months increased from 48 to 61% (p < 0.0001). Pre-hospital times, however, did not change significantly. Conclusions We observed significant improvement in access to reperfusion therapy, mainly through a strong decrease of in-hospital management times, and in 12-month disability after the implementation of four sets of actions between 2006 and 2016 in the Rhône County. Reducing pre-hospital times remains a challenge.