Molecular analysis of NOTCH2 in patients with primary open-angle glaucoma

Le glaucome est la seconde cause de cécité dans le monde après la cataracte et est caractérisé par la perte progressive de cellules ganglionnaires de la rétine allant vers la dégénérescence du nerf optique. On distingue deux formes de glaucome; le glaucome à angle fermé et le glaucome à angle ouvert. L'hérédité du glaucome est souvent sporadique, parfois autosomique dominante. Une pression intraoculaire de plus de 21 mmHg représente un facteur de risque important pour son développement. Actuellement, la mutation la plus fréquente, observée dans 5% des cas de glaucome héréditaire, est retrouvée dans le gène MYOC (trabecular meshwork inducible glucocorticoide response). À ce jour, les causes et mécanismes moléculaires sous-jacent ne sont que partiellement compris. Récemment, il a été démontré qu'une souris transgénique exprimant le gène Notch2 dans luvée, développait un glaucome. Pour cette raison, nous avons analysé le gène NOTCH2 chez l'homme afin de déterminer s'il était impliqué. NOTCH2 est composé de 34 exons sur le chromosome 1 et code une protéine transmembranaire essentielle à la prolifération, l'apoptose, la différenciation cellulaire et le destin cellulaires. L'expression du gène est localisée dans le segment antérieur de l'oeil, le segment externe du corps ciliaire et le trabéculum. Les fonctions principales de ces deux tissus sont la production et le drainage de l'humeur aqueuse. Pour mémoire, une perturbation du flux peut générer une augmentation de la pression intraoculaire. Le but de cette étude était de rechercher d'éventuelles mutations du gène NOTCH2 chez des patients souffrant de glaucome. 130 patients ont été vu à l'hôpital ophtalmique Jules- Gonin et un échantillon d'ADN a été récolté afin d'identifier l'origine moléculaire de leur pathologie. L'analyse moléculaire s'est fait étape par étape. Premièrement, j'ai séquencé l'exon 3 du gène MYOC. Deuxièment, la Chromatographie en phase liquide à haute performance a été utilisée pour l'analyse des 34 exons du gène NOTCH2. Troisièment, tous les exons présentant une courbe suspecte au chromatogramme ont été séquencés selon la méthode de Sanger. Dans la première partie de l'étude, j'ai analysé l'exon 3 du gène MYOC afin de déterminer les éventuels porteurs d'une mutation dominante. Aucune mutation pathogénique n'a été mis en évidence mais 4 patients sur les 130 étaient porteurs d'un variant connu et fréquent. Dans la deuxième partie de mon étude, j'ai analysé les 34 exons du gène NOTCH2, qui n'ont révélé aucune mutation. Bien que les méthodes utilisées dans cette étude montrent quelques limitations, il est peu probable que des mutations dans les régions codantes de NOTCH2 soient un facteur de risque important dans le glaucome primaire à angle ouvert.

The use of COOP/WONCA charts as a screen for mental disorders in the immigrant community in primary care in primary care

Aim. To evaluate the usefulness of COOP/WONCA charts as a screening tool for mental disorders in primary care in the immigrant healthcare users in Salt. To measure self-rated health of Salt immigration population using the COOP / WONCA charts and to assess its associated factorsDesign. Descriptive and transversal study, Participants. 370 non-EU immigrants seniors selected by consecutive sampling stratified by sexMain measures. Personal information will be collected (age, sex, country of origin, years of residency in Spain, number of people living in the household and associated comorbidities). Each participant will complete the COOP/WONCA charts. An analysis of the validity of the diagnostic test will be done: sensibility, specificity, positive predictive value, negative predictive value, ROC curve and area under the curve (AUC). All variables will be subjected to descriptive analysis. Bivariate and multivariate analysis between the variables collected (sex, years of residency in Spain... ) and the results of COOP / WONCA charts will be performedResults. Preliminary results are available on a pilot test with 30 patients. The mental disorder prevalence is around 30%. Sensibility (0,89), specificity (0,89), VPP (0,80), VPN (0,94) cutoff score (3.5) and AUC (0,941). Women, people with 10 or more years of residency in Spain and unemployed people have worse self-rated healthConclusions. Based on the preliminary results, is possible to conclude that COOP/WONCA charts could be an useful, valid and applicable screening test for mental disorders in primary care with immigrant population

Implementing an Evidence-based Hypertension Guideline into Finnish Primary Care Nursing

Kohonneen verenpaineen hoitosuosituksen käyttöönottosuomen perusterveydenhiollon hoitotyössä Tutkimuksen tavoitteena oli tuottaa suosituksia näyttöön perustuvien Käypä hoito -suositusten käytön edistämiseksi perusterveydenhuollon hoitotyössä. Tutkimuksen ensimmäisessä vaiheessa arvioitiin Kohonneen verenpaineen hoitosuosituksen käyttöönottoa terveyskeskuksissa. Toisessa vaiheessa selvitettiin hoitajien hoitosuositusasenteita ja kokemuksia hoitosuosituksen käyttöönotosta. Kolmannessa vaiheessa selvitettiin hoitohenkilöstön näkemyksiä hoitosuosituksen käyttöä edistävistä tekijöistä. Kohonneen verenpaineen hoitosuositus oli ylilääkäreiden ja ylihoitajien mukaan otettu käyttöön lähes kaikissa terveyskeskuksissa, mutta heidän näkemyksensä suositusten käyttöönottoa koskevista terveyskeskuksissa tehdyistä sopimuksista erosivat toisistaan monilta osin. Myös käyttöönoton toteutuksessa oli suurta vaihtelua terveyskeskusten välillä. Toteutustavan perusteella ääripäissä sijaitsevat terveyskeskukset luokiteltiin yksittäisin ja monin keinoin käyttöönottoa tukeneiksi. Hoitajien hoitosuositusasenteet olivat hyvin myönteisiä ja hoitosuosituksia pidettiin luotettavina tiedonlähteinä, ja niiden uskottiin parantavan hoidon laatua. Hoitosuositusten paikallinen soveltaminen sekä johdon ja lääkäreiden tuki olivat hoitajien mielestä keskeisiä käyttöönotossa, vaikkakin tulosten mukaan kaikki käytetyt keinot olivat yhteydessä positiivisempiin hoitosuositusasenteisiin sekä aktiivisempaan hoitajien itsensä ilmaisemaan hoitosuositusten käyttöön. Yhteenvetona voidaan todeta, että Käypä Hoito -suositukset on hyväksytty osaksi kliinistä hoitotyön käytäntöä. Niiden käytön tehostamiseksi tulisi kiinnittää huomiota suositusten paikalliseen soveltamiseen ja eri ammattiryhmien tehtäväkuvien määrittelyyn. Tähän tarvitaan terveyskeskusten johdon ja lääkäreiden selkeää tukea.

Construction and validation of a scoring system for the selection of high-quality data in a Spanish population primary care database (SIDIAP)

Background Computerised databases of primary care clinical records are widely used for epidemiological research. In Catalonia, the InformationSystem for the Development of Research in Primary Care (SIDIAP) aims to promote the development of research based on high-quality validated data from primary care electronic medical records. Objective The purpose of this study is to create and validate a scoring system (Registry Quality Score, RQS) that will enable all primary care practices (PCPs) to be selected as providers of researchusable data based on the completeness of their registers. Methods Diseases that were likely to be representative of common diagnoses seen in primary care were selected for RQS calculations. The observed/ expected cases ratio was calculated for each disease. Once we had obtained an estimated value for this ratio for each of the selected conditions we added up the ratios calculated for each condition to obtain a final RQS. Rate comparisons between observed and published prevalences of diseases not included in the RQS calculations (atrial fibrillation, diabetes, obesity, schizophrenia, stroke, urinary incontinenceand Crohn’s disease) were used to set the RQS cutoff which will enable researchers to select PCPs with research-usable data. Results Apart from Crohn’s disease, all prevalences were the same as those published from the RQS fourth quintile (60th percentile) onwards. This RQS cut-off provided a total population of 1 936 443 (39.6% of the total SIDIAP population). Conclusions SIDIAP is highly representative of the population of Catalonia in terms of geographical, age and sex distributions. We report the usefulness of rate comparison as a valid method to establish research-usable data within primary care electronic medical records

Reações de 1,2-dicloro-4,5-dinitrobenzeno com aminas: monossubstituição de nitro e dissubstituição de cloro e nitro

1,2-dichloro-4,5-dinitrobenzene (DCDNB) reacts with primary and secondary amines, in acetonitrile, at room temperature, to give a monosubstituted nitro product with a yield of 85 to 95%. The chloro-nitro-disubstituted product is formed with excess amine under reflux. Piperidine, pyrroline, dimethylamine and methylamine were the most reactive reagents in both mono- and disubstitution.

The construction of infant and primary school teachers’ identity during their initial professional development and first years of work (Identidoc). Summary, main results and contributions

Educators who are currently beginning their professional career at any level of the educationalsystem and who will likely have to work during the next thirty to forty years will be takingpart in the education of individuals who, with the permission of prophets and doomsayers,will live part of their lives in the 22nd century. That long but simple statement causes a bit ofvertigo as well as a good amount of reflection on the part of we educators who were trainedin the 20th century, are working in the 21st century, and are responsible for preparing peopleto build a tomorrow that is already today (Millán and Sancho, 1995). This is the starting pointof our research groups’ interest in exploring how men and women who have graduated fromteacher education programs with specializations in infant and primary education learn to beteachers, and how they establish and position themselves as teachers during their university studies and the first years of their professional life...

The construction of infant and primary school teachers’ identity during their initial professional development and first years of work (Identidoc). Summary, main results and contributions

Educators who are currently beginning their professional career at any level of the educationalsystem and who will likely have to work during the next thirty to forty years will be takingpart in the education of individuals who, with the permission of prophets and doomsayers,will live part of their lives in the 22nd century. That long but simple statement causes a bit ofvertigo as well as a good amount of reflection on the part of we educators who were trainedin the 20th century, are working in the 21st century, and are responsible for preparing peopleto build a tomorrow that is already today (Millán and Sancho, 1995). This is the starting pointof our research groups’ interest in exploring how men and women who have graduated fromteacher education programs with specializations in infant and primary education learn to beteachers, and how they establish and position themselves as teachers during their university studies and the first years of their professional life...

The construction of infant and primary school teachers’ identity during their initial professional development and first years of work (Identidoc). Summary, main results and contributions

Educators who are currently beginning their professional career at any level of the educationalsystem and who will likely have to work during the next thirty to forty years will be takingpart in the education of individuals who, with the permission of prophets and doomsayers,will live part of their lives in the 22nd century. That long but simple statement causes a bit ofvertigo as well as a good amount of reflection on the part of we educators who were trainedin the 20th century, are working in the 21st century, and are responsible for preparing peopleto build a tomorrow that is already today (Millán and Sancho, 1995). This is the starting pointof our research groups’ interest in exploring how men and women who have graduated fromteacher education programs with specializations in infant and primary education learn to beteachers, and how they establish and position themselves as teachers during their university studies and the first years of their professional life...

The construction of infant and primary school teachers’ identity during their initial professional development and first years of work (Identidoc). Summary, main results and contributions

Educators who are currently beginning their professional career at any level of the educationalsystem and who will likely have to work during the next thirty to forty years will be takingpart in the education of individuals who, with the permission of prophets and doomsayers,will live part of their lives in the 22nd century. That long but simple statement causes a bit ofvertigo as well as a good amount of reflection on the part of we educators who were trainedin the 20th century, are working in the 21st century, and are responsible for preparing peopleto build a tomorrow that is already today (Millán and Sancho, 1995). This is the starting pointof our research groups’ interest in exploring how men and women who have graduated fromteacher education programs with specializations in infant and primary education learn to beteachers, and how they establish and position themselves as teachers during their university studies and the first years of their professional life...

Implementing a Cancer Fast-track programme between primary and specialised care in Catalonia(Spain): amixed methods study

BACKGROUND: The Cancer Fast-track Programme's aim was to reduce the time that elapsed between well-founded suspicion of breast, colorectal and lung cancer and the start of initial treatment in Catalonia (Spain). We sought to analyse its implementation and overall effectiveness. METHODS: A quantitative analysis of the programme was performed using data generated by the hospitals on the basis of seven fast-track monitoring indicators for the period 2006-2009. In addition, we conducted a qualitative study, based on 83 semistructured interviews with primary and specialised health professionals and health administrators, to obtain their perception of the programme's implementation. RESULTS: About half of all new patients with breast, lung or colorectal cancer were diagnosed via the fast track, though the cancer detection rate declined across the period. Mean time from detection of suspected cancer in primary care to start of initial treatment was 32 days for breast, 30 for colorectal and 37 for lung cancer (2009). Professionals associated with the implementation of the programme showed that general practitioners faced with suspicion of cancer had changed their conduct with the aim of preventing lags. Furthermore, hospitals were found to have pursued three specific implementation strategies (top-down, consensus-based and participatory), which made for the cohesion and sustainability of the circuits. CONCLUSION: The programme has contributed to speeding up diagnostic assessment and treatment of patients with suspicion of cancer, and to clarifying the patient pathway between primary and specialised care.

Las habilidades motrices básicas en educación primaria: aspectos de su desarrollo = Key motor skills in primary education: developmental aspects

The physical education curriculum stresses the importance of improving students’ key motor skills. This idea agrees with the contributions of research into motor development concerning the important role these skills play in child development. In order to facilitate this improvement is essential to know the different basic aspects of how these key motor skills evolve as well as the essential factors related to the characteristics and conditions of educational practice

El juego y su estructura interna en relación con el trabajo de la condición física en primaria = Games and their internal structure in relation to the work of physical condition in Primary Education

One of the methodological resources that teachers use in a generalised way in Physical Education classes is the game. Inthis article we define the concept of game and analyse the characteristics of their internal structure. On the other hand welook at the concepts of physical condition and conditional skills and describe the objectives of its work in Primary Education.Finally, we relate these concepts and propose two practical examples of modifying the internal structure of the game so asto produce variations in the implied conditional skills

Outdoor/indoor air quality in primary schools in Lisbon: a preliminary study

Simultaneous measurements of outdoor and indoor pollution were performed at three schools in Lisbon. Volatile organic compounds (VOCs), formaldehyde and NO2 were passively monitored over a two-week period. Bacterial and fungal colony-forming units and comfort parameters were also monitored at classrooms and playgrounds. The highest indoor levels of CO2 (2666 μg/m³), NO2 (40.3 μg/m³), VOCs (10.3 μg/m³), formaldehyde (1.03 μg/m³) and bioaerosols (1634 CFU/m³), and some indoor/outdoor ratios greater than unity, suggest that indoor sources and building conditions might have negative effects on air indoors. Increasing ventilation rates and use of low-emission materials would contribute towards improving indoor air quality.

The use of tribromoisocyanuric acid to distinguish among primary, secondary and tertiary alcohols

Primary, secondary and tertiary alcohols can be easily distinguished due to their reactivity towards tribromoisocyanuric acid (TBCA). The test is performed by adding TBCA to the alcohol in a test tube heated in a boiling water bath. Orange color develops in the tube containing the primary alcohol, light yellow is observed in the tube containing the secondary alcohol while the tertiary alcohol results in a colorless mixture.

UM MÉTODO EFICIENTE PARA A OBTENÇÃO DE DERIVADOS DE 1-ALQUILAMINO-2,4-DINITROBENZENO E A REDUÇÃO REGIOSSELETIVA PARA A OBTENÇÃO DE DERIVADOS DE 1-ALQUILAMINO-2-AMINO-4-NITROBENZENO

Both primary and secondary amines react with 2,4-dinitrochlorobenzene to give derivatives of 1-alkylamino-2,4-dinitrobenzene. These compounds are important intermediates for the synthesis of a diverse range of products. The methodology reported in the present study involves either the room temperature reaction or heating at 70 °C in ethanol in the presence of triethylamine. This transformation occurs via a nucleophilic substitution reaction. The 1-alkylamino-2,4-dinitrobenzene derivatives were obtained in greater than 90% purified yield. The selective reduction of dinitro compounds is an important synthetic strategy for the synthesis of intermediates for dyes, pharmaceuticals and agrochemicals. The use of SnCl2 as a suspension in EtOAc is a promising method for the regio- and chemo-selective reduction of 1-alkylamino-2,4-dinitrobenzenes to 1-alkylamino-2-amino-4-nitrobenzenes. These products are useful intermediates in organic synthesis.