Assessing rare diseases prevalence using literature quantification

International audienceIntroductionEstimating the prevalence of diseases is crucial for the organization of healthcare. The amount of literature on a rare pathology could help differentiate between rare and very rare diseases. The objective of this work was to evaluate to what extent the number of publications can be used to predict the prevalence of a given pathology.MethodsWe queried Orphanet for the global prevalence class for all conditions for which it was available. For these pathologies, we cross-referenced the Orphanet, MeSH, and OMIM vocabularies to assess the number of publication available on Pubmed using three different query strategies (one proposed in the literature, and two built specifically for this study). We first studied the association of the number of publications obtained by each of these query strategies with the prevalence class, then their predictive ability.ResultsClass prevalence was available for 3128 conditions, 2970 had a prevalence class < 1/1,000,000, 41 of 1–9/1,000,000, 84 of 1–9/100,000, and 33 of 1–9/10,000. We show a significant association and excellent predictive performance of the number of publication, with an AUC over 94% for the best query strategy.ConclusionOur study highlights the link and the excellent predictive performance of the number of publications on the prevalence of rare diseases provided by Orphanet

Association between chronic idiopathic cough and sensitive skin syndromes is a new argument in favor of common neuropathic pathways: results from a survey on 4050 subjects.

Sensitive skin syndrome has a neuropathic origin, which is why it is frequently associated with irritable bowel syndrome. We have looked for a possible association with chronic cough, which is commonly maintained by neurogenic mechanisms, whatever the initial cause(s). A survey was carried out on a representative sample of the population over 15 years of age using the quota method. The questionnaire included sociodemographic data and questions about sensitive skin, the presence of chronic cough, smoking and possible causes of chronic cough. Chronic cough was assessed by the Leicester Cough Questionnaire, and 4050 subjects responded (mean age: 45 years). Overall, 12.2% of subjects with a chronic cough were compared to the 87.8% without any cough. Among them, 72.5% had sensitive skin (vs. 47.8%, p < 0.001); additionally, 17.4% of the subjects with sensitive skin had a chronic cough (vs. 6.9% if no sensitive skin). These proportions were higher if very sensitive skin was reported. The risk of having chronic cough was twice as high if sensitive skin was reported [OR = 1.9 (1.5-2.4), p < 0.001]. The risk of having sensitive skin was also twice as high for chronic cough. Thus, chronic cough and sensitive skin are frequently associated. This association represents a new argument in favor of a neuropathic nature of sensitive skin. Sensitive skin and chronic cough are both modes of overreaction to environmental factors, which tend to be autonomized by neurogenic mechanisms. Dermatologists should ask their patients if they have a chronic cough, and pneumologists should ask about the presence of sensitive skin

The role of exposome in acne: results from an international patient survey: The role of exposome in acne

International audienceBACKGROUND:Acne severity and its response to treatment may be influenced by internal and external factors: the exposome.OBJECTIVES:The aim of this international real-life survey was to assess the most involved exposome factors in acne.METHODS:11000 individuals, aged between 15 and 39 years, with clinically confirmed acne or without acne, defined by age, gender and prevalence, were invited to participate in an internet survey of 63 questions in order to assess the frequency of identified acne exposome factors.RESULTS:Data from 6679 questionnaires were used for statistical analysis purposes: 2826 from the acne group and 3853 from the control group. Nibbling, consumption of dairy products, sweets, alcohol, or whey proteins, as well as exposure to pollution, stress, certain mechanical factors and humid or hot weather or sun exposure, were significantly (all P≤0.05) more frequently reported for the acne group than for the control group. This was not the case for tobacco consumption. Data regarding the impact of cannabis consumption were insufficient for drawing any conclusions.CONCLUSIONS:Data from this international, anonymized internet questionnaire conducted with more than almost 6700 participants add new arguments to assumptions made that certain exposome factors have an impact on acne. Nutrition, pollution, stress and harsh skin care, as well as climate and sun exposure may be considered the most frequent factors related to acne

Perceived clinical severity of atopic dermatitis in adolescents: Comparison between patients' and parents' evaluation

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Psoriasis and sexuality: Patients express their feelings

International audienceBackground: In France, psoriasis is a chronic inflammatory skin disease. For several years now, particular attention has been given to the quality of life (Qol) of psoriasis patients. Sexual dysfunction (SD) defined as not wanting or enjoying sexual experience is an important component of Qol. Psoriasis through its physical symptoms and psychological consequences can thus be responsible for SD. Method: The survey participants were recruited through the national psoriasis dermatitis patient association. Result: 41% (577) patients reported having SD related to their psoriasis. Women reported significantly more SD than men (387 [44.7%] vs. 190 [35%], p < 0.001). For 396 (28.1%) patients SD due to their psoriasis manifested as a reduction in the frequency of sexual activity, for 207 (14.7%) as change in their sexual practice, and for 284 (27.4%) as an absence of sexual activity without significant difference between women and men. The main consequence of sexual difficulties for patients was loss of self-confidence in 627 (44.5%) cases, guilt in 209 (14.8%) cases, couple life impairment in 214 (15.2%) cases, isolation in 260 (18.5%) cases and frustration. Discussion: In this study investigating SD related to psoriasis, we found that the disease impact sexual relations of 41% of patients of both gender. The main causes of SD were both physical alone and psychological alone, in the same proportions. The physical symptoms of psoriasis are therefore not the only ones responsible for the sexual discomfort reported from patients in their sexual relations. This may be due to a discomfort of the patient or the physician when talking about sexuality because they can't find the terms to talk about this subject often considered taboo and the age or gender difference. This aspect of the disease should be considered by physicians who care for patients with psoriasis, especially dermatologists. Finally, other strategies should be implemented, such as patient talk groups, referral guides or personalised therapeutic education

Heterogeneous study designs from the long-term clinical trials of biologics in plaque psoriasis

Here are the Table 1. Designs, population and interventions in each arm of the 76 included trials after the induction period and the Figure 1. sankey graph.</p

Impact of a personalised care plan for the elderly calling emergency medical services after a fall at home: The RISING-DOM multi-centre randomised controlled trial protocol

International audienceBackground: A growing number of emergency calls are made each year for elderly people who fall. Many of them are not taken to hospital or are rapidly discharged from the Emergency Department (ED). Evidence shows that, with no further support, this vulnerable population is particularly at risk of injuries, dependency and death. This study aims to determine the effectiveness of a comprehensive geriatric assessment and a tailored intervention in the elderly calling on an Emergency Medical Service (EMS) for a fall at home, but not conveyed to the ED or rapidly discharged from it (less than 24 h from hospitalisation), to the time to institutionalisation or death. Methods: Rising-Dom is a two-arm randomised (ratio 1:1), interventional, multi-centre and open study. Communitydwelling elderly people (≥ 70 years) who call an EMS for a fall at home are recruited. The intervention group receives home visits by a nurse with a comprehensive fall risk assessment and a personalised intervention care plan with a planned follow-up (six nurse home visits and five nurse phone calls). Subjects enrolled in the usual care-control group continue to receive their routine care for the prevention or treatment of diseases. Primary (time to institutionalisation or death) and secondary (unscheduled hospitalisations, additional EMS calls relating to falls, functional decline and quality of life) outcome data will be collected for both groups through five phone calls made by Clinical Research Associates (CRA) blind to the participants' group during the follow-up period (24-months). Twelve hospital centres in the SouthWest of France are participating in the study as study sites. The inclusion period started in October 2019 and will end in March 2022. By the end of this period, 1,190 subjects are expected to be enrolled. Discussion: Studies on elderly home falls have rarely concerned people who were not taken to hospital. The Rising-Dom intervention scheme should enhance understanding of features related to this vulnerable population and investigate the impact of a nurse care at home on delaying death and institutionalisation

<p>Individual Burden of Psoriasis (I-BOP): Building and Validation of a New Scoring Tool for Patients with Psoriasis</p>

International audienceBackground: Psoriasis impacts independently of its severity on patients' lifestyle and quality of life (QoL).Aim: To build a tool for assessing the patient-reported psoriasis burden.Methods: An expert group created a questionnaire using a standardized methodology building questionnaires assessing quality of life issues. The questionnaire was translated from French into a cultural and linguistically validated US English version.Results: A conceptual questionnaire of 54 questions was created. The confirmatory analyses resulted in a 10-feature questionnaire divided into 4 internally consistent domains with a Cronbach's alpha coefficient of 0.9. It was reproducible and highly reliable. It correlated well with the Dermatology Life Quality Index (DLQI), Perceived Stress Scale (PSS), and SF-12 mental and SF12 physical scores.Conclusion: This tool allows for the first time to assess the burden of psoriasis patients. Its use may allow improving medical and nonmedical patient care, thus improving their daily life

Factors associated with perceived stress in patients with vitiligo in the ComPaRe e-cohort

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