[Colorectal cancer screening in primary care pharmacy in Corsica: a support for the prevention in general medicine] / Dépistage du cancer colorectal en officine en Corse : un appui à la prévention en médecine générale.

Colorectal cancer (CRC) affects approximately 43,000 people each year in France and is responsible for nearly 18,000 deaths a year. The national organized screening program contributes to its early detection. The test is available to the preferred GP or, to the Regional Center in charge of the invited public. Often the process of going to his doctor to get the test is not well accepted and the participation in organized screening is low. Our project aims to evaluate the impact of the provision of this test in pharmacies on screening for colorectal cancer in Corsica. The article describes the method used to mobilize the primary care pharmacists of the territory, provide them the test kits and follow-up of the people who took part in the test. The results presented highlight a very positive impact of the experiment with a progression of the realized rate to 36% over the period of 9 months.

Factors associated with initiation of medical advanced cardiac life support after out-of-hospital cardiac arrest.

BACKGROUND: Termination of resuscitation rule permits to stop futile resuscitative efforts by paramedics. In a different setting, the decision to withhold resuscitation by emergency physician could be based on different factors. We aimed to identify the factors associated with the initiation of a medical ACLS in out-of-hospital cardiac arrest patients. METHODS: We prospectively collected the characteristics of all out-of hospital cardiac arrest patients occurring in a French district between March 2010 and December 2013 and managed by the emergency medical system. We analyzed the factors associated with the initiation of medical ACLS. RESULTS: Medical ACLS was initiated in 69 % of the 2690 patients included in the register. ACLS patients were younger (69 years [55-80] vs. 84 years [77-90]) and more frequently men. A higher percentage of witnessed cardiac arrest and BLS were observed. Duration of no-flow was shorter in the ACLS patients, whereas BLS duration was longer. A higher proportion of shockable rhythm and application of AED were found in this group. Mains factors associated with the initiation of medical ACLS were a suspected cardiac cause (1.73 [1.30-2.30]) and use of an automated external defibrillator (1.59 [1.18-2.16]), whereas factors associated with no medical ACLS were higher age (0.93 [0.92-0.94]), absence of BLS (0.62 [0.52-0.73]), asystole (0.31 [0.18-0.51]) and location in nursing home (0.23 [0.11-0.51]). CONCLUSIONS: The medical decision to not initiate ACLS in out-of-hospital cardiac arrest patients seems to rely on a complex combination of validated criteria used for termination of resuscitation and factors resulting from an intuitive perception of the outcome.

The mini mental state examination at the time of Alzheimer's disease and related disorders diagnosis, according to age, education, gender and place of residence: a cross-sectional study among the French National Alzheimer database.

THE AIM OF THIS STUDY: was firstly to describe the MMSE (Mini-Mental State Examination) score upon initial diagnosis of Alzheimer's disease and related disorders among the French population, according to age. Secondly, education, gender and place of residence were studied as factors potentially associated with delayed Alzheimer's disease diagnosis. DESIGN: we conducted a cross sectional analysis of the French National Alzheimer database (BNA). Data from 2008 to 2012 were extracted. Patients were selected at the moment of their first diagnosis of AD (n = 39,451). RESULTS: The MMSE score at initial diagnosis dropped significantly with increasing age. The test score increased with the degree of educational background regardless of age. Gender and place of residence were significantly related to the MMSE score, women and persons living in medical institutions having lower MMSE scores under the age of 90 years and at all educational levels. CONCLUSIONS: Health care professionals should be aware of these risk factors in order to maximize chances of earliest possible diagnosis of Alzheimer's disease and related disorders.

The 2008-2012 French Alzheimer plan: description of the national Alzheimer information system.

In France, one of the aims of the current national Alzheimer's disease plan is to collect data from all memory centers (memory units, memory resource and research centers, independent neurologists) throughout the country. Here we describe the French Alzheimer Information System and present a 'snapshot' of the data collected throughout the country during the first year of operation. We analyzed all data transmitted by memory centers between January 2010 and December 2010. Each participating center is required to transmit information on patients to the French National Alzheimer dataBank (BNA). This involves completing a computer file containing 31 variables corresponding to a limited data set on AD (CIMA: Corpus minimum d'information Alzheimer). In 2010, the BNA received data from 320 memory centers relating to 199,113 consultations involving 118,776 patients. An analysis of the data shows that the initial MMSE (Mini Mental State Examination) mean score for patients in France was 16.8 points for Alzheimer's disease, 25.7 points for mild cognitive impairment, and 18.8 points for 'related disorders related disorders. The BNA will provide longitudinal data that can be used to assess the needs of individual local health areas and size specialized care provision in each regional health scheme. By contributing to the BNA, the memory centers enhance their clinical activity and help to advance knowledge in epidemiology and medical research in the important field of Alzheimer's disease and related dementias.

Impact of restrictive diets on the risk of undernutrition in a free-living elderly population.

BACKGROUND & AIMS: Elderly subjects are at risk for undernutrition. Restrictive diets may increase this risk. The aim was to evaluate the impact of restrictive diets on undernutrition and its risk in free-living elderly. METHODS: Ambulatory patients over age 75 and under a restrictive diet (low salt, low cholesterol, diabetic) were included prospectively, along with age- and gender-matched controls. Weight and height were measured, and the short-form of the Mini Nutritional Assessment was scored. Groups were compared to determine variables associated with a low MNA-SF(®). RESULTS: 95 patients in the diet group (62 F, 33 M, 80 ± 4 y) and 95 controls (57 F, 38 M, 82 ± 5 y) were included. Restrictive diets (low salt n = 33, diabetic n = 19, low cholesterol n = 15, combination n = 27) had been followed since 11.0 ± 5.9 years. Using the cut-off of 12 for MNA-SF(®), 44 patients in the diet group were at risk vs. 22 among controls (P < 0.001). In multivariate analysis, a restrictive diet increased the probability of having an MNA-SF(®) < 12 (OR = 3.6, (95%)CI = 1.8-7.2, P < .001). CONCLUSIONS: Restrictive diets in patients over 75 increase the risk of undernutrition. On an individual level, these diets may need reassessment. Society guidelines should promote specific recommendations for the elderly.

Decreased daytime motor activity associated with apathy in Alzheimer disease: an actigraphic study.

OBJECTIVE: Across all stages of Alzheimer disease (AD), apathy is the most common neuropsychiatric symptom. Studies using the Neuropsychiatric Inventory (NPI) have found that apathy is present in up to 70% of individuals with Alzheimer disease. One of the main difficulties in assessing apathy and other neuropsychiatric symptoms is the absence of reliable, objective measures. Motor activity assessment using ambulatory actigraphy could provide an indirect, objective evaluation of apathy. The aim of our study was to assess the relationship between apathy and daytime motor activity in AD, using ambulatory actigraphy. METHODS: One hundred seven AD outpatients wore a wrist actigraph (Motionlogger) during seven consecutive 24-hour periods to evaluate motor activity. Participants were divided into two subgroups according to their apathy subscores on the NPI: individuals with apathy (NPI-apathy subscores >4) and those without. Daytime mean motor activity scores were compared between the two subgroups. RESULTS: Individuals with AD who had symptoms of apathy (n = 43; age = 79 ± 4.7 years; Mini-Mental State Examination = 20.9 ± 4.8) had significantly lower daytime mean motor activity than AD patients without apathy (n = 64; age = 76.3 ± 7.7; Mini-Mental State Examination = 21.5 ± 4.7), while nighttime mean motor activity did not significantly differ between the two subgroups. CONCLUSIONS: Ambulatory actigraphy could be added to currently used questionnaires as a simple, objective technique for assessing apathy in the routine assessment of AD patients.

[Innovating for an EHPAD of the future: the suggestions of professionals in the Alpes-Maritimes (France)]. / Innover pour un Établissement d'Hébergement des Personnes Âgées Dépendantes du futur : les propositions des professionnels des Alpes-Maritimes.

A collaborative group drawn from various local public institutions and organizations has been reflecting since 2007 on the issue of aging populations and the prevention of age-related dependency within the framework of a public health project. This paper describes the approach used in this research and the results produced by a working group that was asked to imagine ideal elderly care institutions for the future. Based on an?internet forum and semi-structured interviews, four workshops were organized during a?symposium attended by local professionals specializing in gerontology. Thirty recommendations were put forward, grouped according to eight separate items. The various recommendations reflect three levels of innovation: innovation aimed at translating discourse into practice; innovation aimed at improving current practices; and innovation involving a change in long-established norms and habits. The practical implementation of these innovations will begin shortly with the support of a number of elderly care institutions.

Lack of Association Between COMT Polymorphisms and Apathy in Alzheimer's Disease.

We tested the hypothesis that single nucleotide polymorphisms (SNPs) in catechol-O-methyltransferase (COMT) are associated with apathy in individuals with Alzheimer's disease (AD). We analyzed a cohort of 105 Caucasian individuals with AD (age = 79.3 ± 7.03 years; MMSE = 20.2 ± 4.4) according to the presence of apathy, as defined either by the Neuropsychiatric Inventory or the Apathy Inventory. Polymorphisms in seventeen SNPs in COMT were examined. A replication cohort consisting of 176 Caucasian AD subjects in the ADNI database was also analyzed. None of the candidate gene SNPs were significantly associated with the presence of apathy in either cohort. We did not find any SNPs in COMT that were consistently associated with apathy in individuals with AD.

Relationship between apathy and sleep disturbance in mild and moderate Alzheimer's disease: an actigraphic study.

Apathy is the most frequently reported neuropsychiatric symptom across all stages of Alzheimer's disease (AD). Both apathy and sleep disorders are known to have independent negative effects on the quality of life in individuals with AD. The aim of this study was to assess the relationship between apathy and sleep/wake patterns in individuals with AD using ambulatory actigraphy. One hundred and three non-institutionalized individuals with AD wore a wrist actigraph continuously over seven consecutive 24-h periods. Apathy was assessed using the Neuropsychiatric Inventory. Daytime mean motor activity (dMMA) was calculated from daytime wrist actigraphy data. Actigraphic parameters of sleep included total sleep time (TST), wake after sleep onset (WASO), time in bed (TIB), WASO normalized by TIB, sleep latency, and nighttime mean motor activity (nMMA). Among the 103 individuals with AD (aged 76.9 ± 7.2 years; MMSE = 21.4 ± 4.3), those with apathy had significantly lower dMMA, higher WASO (both raw and normalized), and spent more time in bed during the night than those without apathy. Sleep latency, nMMA and TST did not differ significantly between the two subgroups. To our knowledge, this study is the first to identify a relationship between apathy and sleep disturbance in those with mild or moderate AD: apathy was associated with increased TIB during the night and more WASO. These results suggest that AD patients with apathy have less consolidated nocturnal sleep than those without apathy.

UMLF: a unified medical lexicon for French.

Medical Informatics has a constant need for basic medical language processing tasks, e.g. for coding into controlled vocabularies, free text indexing and information retrieval. Most of these tasks involve term matching and rely on lexical resources: lists of words with attached information, including inflected forms and derived words, etc. Such resources are publicly available for the English language with the UMLS Specialist Lexicon, but not in other languages. For the French language, several teams have worked on the subject and built local lexical resources. The goal of the present work is to pool and unify these resources and to add extensively to them by exploiting medical terminologies and corpora, resulting in a unified medical lexicon for French (UMLF). This paper exposes the issues raised by such an objective, describes the methods on which the project relies and illustrates them with experimental results.

Predicting survival causes after out of hospital cardiac arrest using data mining method.

BACKGROUND: The prognosis of life for patients with heart failure remains poor. By using data mining methods, the purpose of this study was to evaluate the most important criteria for predicting patient survival and to profile patients to estimate their survival chances together with the most appropriate technique for health care. METHODS: Five hundred and thirty three patients who had suffered from cardiac arrest were included in the analysis. We performed classical statistical analysis and data mining analysis using mainly Bayesian networks. RESULTS: The mean age of the 533 patients was 63 (+/- 17) and the sample was composed of 390 (73 %) men and 143 (27 %) women. Cardiac arrest was observed at home for 411 (77 %) patients, in a public place for 62 (12 %) patients and on a public highway for 60 (11 %) patients. The belief network of the variables showed that the probability of remaining alive after heart failure is directly associated to five variables: age, sex, the initial cardiac rhythm, the origin of the heart failure and specialized resuscitation techniques employed. CONCLUSIONS: Data mining methods could help clinicians to predict the survival of patients and then adapt their practices accordingly. This work could be carried out for each medical procedure or medical problem and it would become possible to build a decision tree rapidly with the data of a service or a physician. The comparison between classic analysis and data mining analysis showed us the contribution of the data mining method for sorting variables and quickly conclude on the importance or the impact of the data and variables on the criterion of the study. The main limit of the method is knowledge acquisition and the necessity to gather sufficient data to produce a relevant model.

Phenotypic and molecular variability of the holoprosencephalic spectrum.

Since 1996, a European network has been organized from Rennes, France and holoprosencephalic files were collected for clinical and molecular study. Familial instances of typical and atypical holoprosencephaly (HPE) were found in 30% of cases. All affected children had psychomotor delay with microcephaly, often associated with endocrine, digestive, and respiratory abnormalities, and thermal dysregulation. Among 173 subjects in the molecular study, 28 heterozygous mutations were identified (16%): 15 SHH mutations, 6 ZIC2 mutations, 5 SIX3 mutations, and 2 TGIF mutations.

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.

Holoprosencephaly (HPE; 1 out of 16,000 live births; 1 out of 250 conceptuses) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, affecting both the forebrain and the face. Clinical expressivity is variable, ranging from a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial dominant autosomic HPE. The disease is genetically heterogeneous, but additional environmental agents also contribute to the etiology of HPE. In our cohort of 200 patients, 34 heterozygous mutations were identified, 24 of them being novel ones: 13 out of 17 in the Sonic hedgehog gene (SHH); 4 out of 7 in ZIC2; and 7 out of 8 in SIX3. The two mutations identified in TGIF have already been reported. Novel phenotypes associated with a mutation have been described, such as abnormalities of the pituitary gland and corpus callosum, colobomatous microphthalmia, choanal aperture stenosis, and isolated cleft lip. This study confirms the great genetic heterogeneity of the disease, the important phenotypic variability in HPE families, and the difficulty to establish genotype-phenotype correlations.

BioMeKe: an ontology-based biomedical knowledge extraction system devoted to transcriptome analysis.

Semantic interoperability between knowledge bases in medicine, and knowledge base in genomics and molecular biology will lead to advances in fundamental research as well as to improved patient care. DNA chips strategy is used for transcriptome analysis in order to identify deregulated genes in physio-pathological conditions. The objective of the BioMedical Knowledge Extraction project (BioMeKe) is to develop a knowledge warehouse in the context of transcriptome analysis during liver diseases. Knowledge sources include ontologies, related terminologies and annotations linked towards public databases (e.g., SWISSPROT). BioMeKe has been developed to have access to information using systematic investigation upon a concept, gene, gene products, pathology, or any target keyword, and is based on the combination of several relevant resources: UMLS, GeneOntology, MeSH supplementary terms, GOA, and HUGO. Current efforts are focusing on exploiting this ontology-based Knowledge Extractor, to enrich the expression data on genes delivered by a liver specific DNA microarray for better assistance of analysis.

Towards a unified medical lexicon for French.

Medical Informatics has a constant need for basic Medical Language Processing tasks, e.g., for coding into controlled vocabularies, free text indexing and information retrieval. Most of these tasks involve term matching and rely on lexical resources: lists of words with attached information, including inflected forms and derived words, etc. Such resources are publicly available for the English language with the UMLS Specialist Lexicon, but not in other languages. For the French language, several teams have worked on the subject and built local lexical resources. The goal of the present work is to pool and unify these resources and to add extensively to them by exploiting medical terminologies and corpora, resulting in a unified medical lexicon for French (UMLF). This paper exposes the issues raised by such an objective, describes the methods on which the project relies and illustrates them with experimental results.

Method for automatic management of the semantic network ambiguity in the UMLS: possible application for information retrieval on the Web.

The Unified Medical Language System (UMLS) is an extensive collection of terms and concepts. The UMLS includes biomedical terms from standard classifications. The semantic network (SN) links the concepts, sometimes ambiguously. In this paper we try, on one hand to describe the relationship between concepts more efficiently and on the other hand to find new relationships. Assuming that re-usability and automatic extraction of knowledge from existing thesaurus enables an improvement of the metatheasaurus, we cross the SN with linked concepts from the ADM (Assisted Medical Diagnosis). Results are presented and our discussion concerns firstly the use of the SN only; secondly the improvement that allows pre-selection of linked concepts, and thirdly the possibility to coincide with other developments that improve the metathesaurus.

Medical pedagogical resources management.

The main objective of this work is to help the management of training resources for students using a pedagogical network available at the Medical School of Rennes. With the increase of the number of connections and the number of medical documents available on this network, the management of new contents requires a lot of efforts for the webmaster. In order to improve the management of the resources, we implemented an automatic web engine for teachers, able to manage the links for the most interesting resources for their practice.

Collaborative environment for clinical reasoning and distance learning sessions.

BACKGROUND: The medical curriculum has changed with the adoption of the student-centered learning paradigm. Clinical reasoning learning (CRL) is used in order to develop and improve students' clinical reasoning and problem-solving skills. PURPOSE: We have observed that, in complement to traditional CRL sessions, students commonly consult resources available on the internet. Based on this observation, our objective is to create computer tools to coordinate CRL sessions at distance, integrating these electronic resources at every step of the reasoning process. MATERIAL AND METHODS: In order to create the system, we elaborated an object-oriented model of a computer-supported collaborative learning environment. The proposed system includes a local web-server to store electronic resources and a relational database to store their electronic addresses (urls). JAVA was used as the programming language. RESULTS: We developed a set of cooperative platform-independent tools. This environment includes a communication tool. Multimedia data exchange is possible. Information is shared thanks to an electronic notepad and whiteboard tools. PERSPECTIVES: This learning environment will be integrated in the French Virtual Medical University project, and is intended to be used for undergraduate, internships, residency or continuing medical education.

UMLF: a Unified Medical Lexicon for French.

Lexical resources for medical language, such as lists of words with inflectional and derivational information, are publicly available for the English lantuate with the UMLS Specialist Lexicon. The goal of the UMLF project is to pool and unify existing resources and to add extensively to them by exploiting medical terminologies and corpora, resulting in a Unified Medical Lexicon for French. We present here the current status of the project.

Representation of roles in biomedical ontologies: a case study in functional genomics.

OBJECTIVE: Representing roles, i.e. functions of proteins, sequences and structures, is the cornerstone of knowledge representation in functional genomics. The objective of this study is to investigate representation of roles as functional categories or associative relations. We focus on GeneOntology (GO) and the UMLS and take examples from iron metabolism. METHODS: The terms corresponding to the main proteins involved in iron metabolism were mapped to GO (including the annotations) and the UMLS. The representation of their biological roles was then analyzed. RESULTS: Functional aspects are represented in both GO and the UMLS. However, the granularity may not be appropriate. DISCUSSION: Advantages and limits of functional categories and associative relations are discussed.