Making Knowledge Work for Health: A Strategy for Health Research

Making Knowledge Work for Health: A Strategy for Health Research, provides a framework for the development of health research to enhance health and quality of life and help ensure that our research compares favourably with the rest of the world. I believe that an active research community working close to the delivery of health care in clinical settings, laboratories, the community, third-level institutions and the healthcare industry is critical to the improvement of the quality of health services generally. It is vital for professional development and career satisfaction of health service staff. It is also important for the translation of ideas into medical and IT products that can add value to our economy Download the Report here

Reliability and validity of the Alcohol Use Disorders Identification Test (AUDIT) imbedded within a general health risk screening questionnaire: results of a survey in 332 primary care patients.

BACKGROUND: Self-administered, general health risk screening questionnaires that are administered while patients wait in the doctor's office may be a reasonable and timesaving approach to address the requirements of preventive medicine in a typical 10-min medical visit. The psychometric characteristics of the Alcohol Use Disorders Identification Test (AUDIT) incorporated within a health questionnaire (H-AUDIT) have not been examined. METHODS: The reliability and validity of the self-administered AUDIT were compared between the H-AUDIT and the AUDIT used as a single scale (S-AUDIT) in 332 primary care patients. RESULTS: No major demographic or alcohol use characteristics were found between the 166 subjects who completed the H-AUDIT and the 166 individuals who completed the S-AUDIT. The test-retest reliability of the 166 subjects who completed the H-AUDIT [estimated by Spearman correlation coefficient at a 6-week interval (0.88), internal consistency (total correlation coefficients for all items ranged from 0.38 to 0.69; Cronbach alpha index 0.85), and the sensitivity and specificity of the H-AUDIT were used to identify at-risk drinkers' areas under receiver operating characteristic (0.77) and alcohol-dependent subjects' areas under receiver operating characteristic (0.89)] was similar to the same measurements obtained with the 166 individuals who completed the S-AUDIT. CONCLUSIONS: The AUDIT incorporated in a health risk screening questionnaire is a reliable and valid self-administered instrument to identify at-risk drinkers and alcohol-dependent individuals in primary care settings.

A Study to Examine the Attitudes of General Practitioners Towards Drug Users in the North East Region of Ireland

The research examines general practitioners attitudes and how these effect the management of drug misusers within their practice. The methodology is quantitative in approach. The instrument used is a structured postal questionnaire. Participants include all general practitioners within the North East region of Ireland. Anonymity and confidentiality of all respondents are guaranteed. Data was collected over a six week period, under the following headings - attitudes and beliefs, factors influencing treatment, treatment options, training and demographics. Attitudes and beliefs towards drug users were measured using a five point Likert scale ranging from strongly agrees to strongly disagree. The data was analysed with the aid of a computer package, SPSS allowing descriptive statistics to be presented. Results indicate that the majority of respondents are male. There appears to be sympathy towards drug users and that treatment approaches should be holistic. However, there appears to be a major lack of confidence in treating and managing drug misusers. Patient, social and practice factors all influence the decision to the drug misuser. Treatment options are varied, ranging from methadone maintenance to referral for residential treatment. However, a number of respondents offer no treatment for drug misusers. General practitioners do not feel adequately trained in treating and/or managing this client group. Results indicate that improved communication, ongoing education and more research is needed in this area.This resource was contributed by The National Documentation Centre on Drug Use.

A Study on the Feasibility of the Inclusion of General Practitioners and Prisons in the National Drug Treatment Reporting System: Plan for the Implementation of the NDTRS in Prison and GP Services

The Drug Misuse Research Division of the Health Research Board operates the National Drug Treatment Reporting System (NDTRS). The system is used to provide epidemiological information on treated problem drug misuse in Ireland and informs policy makers, researchers and the general public. The NDTRS collates data from participating treatment centres in all Health Board areas, however a gap in information exists in that drug misusers in treatment units within prisons and those treated by General Practitioners are not included. This study aims to determine the feasibility of including these two groups to increase coverage of the NDTRS and outlines preliminary steps for their inclusion.This resource was contributed by The National Documentation Centre on Drug Use.

Learning collaboration in General Internal Medicine: a pilot project for undergraduate students in nursing, physiotherapy and medicine

Background: A form of education called Interprofessional Education (IPE) occurs when two or more professions learn with, from and about each other. The purpose of IPE is to improve collaboration and the quality of care. Today, IPE is considered as a key educational approach for students in the health professions. IPE is highly effective when delivered in active patient care, such as in clinical placements. General internal medicine (GIM) is a core discipline where hospital-based clinical placements are mandatory for students in many health professions. However, few interprofessional (IP) clinical placements in GIM have been implemented. We designed such a placement. Placement design: The placement took place in the Department of Internal Medicine at the CHUV. It involved students from nursing, physiotherapy and medicine. The students were in their last year before graduation. Students formed teams consisting of one student from each profession. Each team worked in the same unit and had to take care of the same patient. The placement lasted three weeks. It included formal IP sessions, the most important being facilitated discussions or "briefings" (3x/w) during which the students discussed patient care and management. Four teams of students eventually took part in this project. Method: We performed a type of evaluation research called formative evaluation. This aimed at (1) understanding the educational experience and (2) assessing the impact of the placement on student learning. We collected quantitative data with pre-post clerkship questionnaires. We also collected qualitative data with two Focus Groups (FG) discussions at the end of the placement. The FG were audiotaped and transcribed. A thematic analysis was then performed. Results: We focused on the qualitative data, since the quantitative data lacked of statistical power due to the small numbers of students (N = 11). Five themes emerged from the FG analysis: (1) Learning of others' roles, (2) Learning collaborative competences, (3) Striking a balance between acquiring one's own professional competences and interprofessional competences, (4) Barriers to apply learnt IP competences in the future and (5) Advantages and disadvantages of IP briefings. Conclusions: Our IP clinical placement in GIM appeared to help students learn other professionals' roles and collaborative skills. Some challenges (e.g. finding the same patient for each team) were identified and will require adjustments.

Omics meets hypothesis-driven research. Partnership for innovative discoveries in vascular biology and angiogenesis.

The emergence of omics technologies allowing the global analysis of a given biological or molecular system, rather than the study of its individual components, has revolutionized biomedical research, including cardiovascular medicine research in the past decade. These developments raised the prospect that classical, hypothesis-driven, single gene-based approaches may soon become obsolete. The experience accumulated so far, however, indicates that omic technologies only represent tools similar to those classically used by scientists in the past and nowadays, to make hypothesis and build models, with the main difference that they generate large amounts of unbiased information. Thus, omics and classical hypothesis-driven research are rather complementary approaches with the potential to effectively synergize to boost research in many fields, including cardiovascular medicine. In this article we discuss some general aspects of omics approaches, and review contributions in three areas of vascular biology, thrombosis and haemostasis, atherosclerosis and angiogenesis, in which omics approaches have already been applied (vasculomics).

Instruments measuring spirituality in clinical research: a systematic review.

INTRODUCTION: Numerous instruments have been developed to assess spirituality and measure its association with health outcomes. This study's aims were to identify instruments used in clinical research that measure spirituality; to propose a classification of these instruments; and to identify those instruments that could provide information on the need for spiritual intervention. METHODS: A systematic literature search in MEDLINE, CINHAL, PsycINFO, ATLA, and EMBASE databases, using the terms "spirituality" and "adult$," and limited to journal articles was performed to identify clinical studies that used a spiritual assessment instrument. For each instrument identified, measured constructs, intended goals, and data on psychometric properties were retrieved. A conceptual and a functional classification of instruments were developed. RESULTS: Thirty-five instruments were retrieved and classified into measures of general spirituality (N = 22), spiritual well-being (N = 5), spiritual coping (N = 4), and spiritual needs (N = 4) according to the conceptual classification. Instruments most frequently used in clinical research were the FACIT-Sp and the Spiritual Well-Being Scale. Data on psychometric properties were mostly limited to content validity and inter-item reliability. According to the functional classification, 16 instruments were identified that included at least one item measuring a current spiritual state, but only three of those appeared suitable to address the need for spiritual intervention. CONCLUSIONS: Instruments identified in this systematic review assess multiple dimensions of spirituality, and the proposed classifications should help clinical researchers interested in investigating the complex relationship between spirituality and health. Findings underscore the scarcity of instruments specifically designed to measure a patient's current spiritual state. Moreover, the relatively limited data available on psychometric properties of these instruments highlight the need for additional research to determine whether they are suitable in identifying the need for spiritual interventions.

The relationship between forensic science and judicial error: a study covering error sources, bias, and remedies

Summary : Forensic science - both as a source of and as a remedy for error potentially leading to judicial error - has been studied empirically in this research. A comprehensive literature review, experimental tests on the influence of observational biases in fingermark comparison, and semistructured interviews with heads of forensic science laboratories/units in Switzerland and abroad were the tools used. For the literature review, some of the areas studied are: the quality of forensic science work in general, the complex interaction between science and law, and specific propositions as to error sources not directly related to the interaction between law and science. A list of potential error sources all the way from the crime scene to the writing of the report has been established as well. For the empirical tests, the ACE-V (Analysis, Comparison, Evaluation, and Verification) process of fingermark comparison was selected as an area of special interest for the study of observational biases, due to its heavy reliance on visual observation and recent cases of misidentifications. Results of the tests performed with forensic science students tend to show that decision-making stages are the most vulnerable to stimuli inducing observational biases. For the semi-structured interviews, eleven senior forensic scientists answered questions on several subjects, for example on potential and existing error sources in their work, of the limitations of what can be done with forensic science, and of the possibilities and tools to minimise errors. Training and education to augment the quality of forensic science have been discussed together with possible solutions to minimise the risk of errors in forensic science. In addition, the time that samples of physical evidence are kept has been determined as well. Results tend to show considerable agreement on most subjects among the international participants. Their opinions on possible explanations for the occurrence of such problems and the relative weight of such errors in the three stages of crime scene, laboratory, and report writing, disagree, however, with opinions widely represented in existing literature. Through the present research it was therefore possible to obtain a better view of the interaction of forensic science and judicial error to propose practical recommendations to minimise their occurrence. Résumé : Les sciences forensiques - considérés aussi bien comme source de que comme remède à l'erreur judiciaire - ont été étudiées empiriquement dans cette recherche. Une revue complète de littérature, des tests expérimentaux sur l'influence du biais de l'observation dans l'individualisation de traces digitales et des entretiens semi-directifs avec des responsables de laboratoires et unités de sciences forensiques en Suisse et à l'étranger étaient les outils utilisés. Pour la revue de littérature, quelques éléments étudies comprennent: la qualité du travail en sciences forensiques en général, l'interaction complexe entre la science et le droit, et des propositions spécifiques quant aux sources d'erreur pas directement liées à l'interaction entre droit et science. Une liste des sources potentielles d'erreur tout le long du processus de la scène de crime à la rédaction du rapport a également été établie. Pour les tests empiriques, le processus d'ACE-V (analyse, comparaison, évaluation et vérification) de l'individualisation de traces digitales a été choisi comme un sujet d'intérêt spécial pour l'étude des effets d'observation, due à son fort recours à l'observation visuelle et dû à des cas récents d'identification erronée. Les résultats des tests avec des étudiants tendent à prouver que les étapes de prise de décision sont les plus vulnérables aux stimuli induisant des biais d'observation. Pour les entretiens semi-structurés, onze forensiciens ont répondu à des questions sur des sujets variés, par exemple sur des sources potentielles et existantes d'erreur dans leur travail, des limitations de ce qui peut être fait en sciences forensiques, et des possibilités et des outils pour réduire au minimum ses erreurs. La formation et l'éducation pour augmenter la qualité des sciences forensiques ont été discutées ainsi que les solutions possibles pour réduire au minimum le risque d'erreurs en sciences forensiques. Le temps que des échantillons sont gardés a été également déterminé. En général, les résultats tendent à montrer un grand accord sur la plupart des sujets abordés pour les divers participants internationaux. Leur avis sur des explications possibles pour l'occurrence de tels problèmes et sur le poids relatif de telles erreurs dans les trois étapes scène de crime;', laboratoire et rédaction de rapports est cependant en désaccord avec les avis largement représentés dans la littérature existante. Par cette recherche il était donc possible d'obtenir une meilleure vue de l'interaction des sciences forensiques et de l'erreur judiciaire afin de proposer des recommandations pratiques pour réduire au minimum leur occurrence. Zusammenfassung : Forensische Wissenschaften - als Ursache und als Hilfsmittel gegen Fehler, die möglicherweise zu Justizirrtümern führen könnten - sind hier empirisch erforscht worden. Die eingestzten Methoden waren eine Literaturübersicht, experimentelle Tests über den Einfluss von Beobachtungseffekten (observer bias) in der Individualisierung von Fingerabdrücken und halbstandardisierte Interviews mit Verantwortlichen von kriminalistischen Labors/Diensten in der Schweiz und im Ausland. Der Literaturüberblick umfasst unter anderem: die Qualität der kriminalistischen Arbeit im Allgemeinen, die komplizierte Interaktion zwischen Wissenschaft und Recht und spezifische Fehlerquellen, welche nicht direkt auf der Interaktion von Recht und Wissenschaft beruhen. Eine Liste möglicher Fehlerquellen vom Tatort zum Rapportschreiben ist zudem erstellt worden. Für die empirischen Tests wurde der ACE-V (Analyse, Vergleich, Auswertung und Überprüfung) Prozess in der Fingerabdruck-Individualisierung als speziell interessantes Fachgebiet für die Studie von Beobachtungseffekten gewählt. Gründe sind die Wichtigkeit von visuellen Beobachtungen und kürzliche Fälle von Fehlidentifizierungen. Resultate der Tests, die mit Studenten durchgeführt wurden, neigen dazu Entscheidungsphasen als die anfälligsten für Stimuli aufzuzeigen, die Beobachtungseffekte anregen könnten. Für die halbstandardisierten Interviews beantworteten elf Forensiker Fragen über Themen wie zum Beispiel mögliche und vorhandene Fehlerquellen in ihrer Arbeit, Grenzen der forensischen Wissenschaften und Möglichkeiten und Mittel um Fehler zu verringern. Wie Training und Ausbildung die Qualität der forensischen Wissenschaften verbessern können ist zusammen mit möglichen Lösungen zur Fehlervermeidung im selben Bereich diskutiert worden. Wie lange Beweismitten aufbewahrt werden wurde auch festgehalten. Resultate neigen dazu, für die meisten Themen eine grosse Übereinstimmung zwischen den verschiedenen internationalen Teilnehmern zu zeigen. Ihre Meinungen über mögliche Erklärungen für das Auftreten solcher Probleme und des relativen Gewichts solcher Fehler in den drei Phasen Tatort, Labor und Rapportschreiben gehen jedoch mit den Meinungen, welche in der Literatur vertreten werden auseinander. Durch diese Forschungsarbeit war es folglich möglich, ein besseres Verständnis der Interaktion von forensischen Wissenschaften und Justizirrtümer zu erhalten, um somit praktische Empfehlungen vorzuschlagen, welche diese verringern. Resumen : Esta investigación ha analizado de manera empírica el rol de las ciencias forenses como fuente y como remedio de potenciales errores judiciales. La metodología empleada consistió en una revisión integral de la literatura, en una serie de experimentos sobre la influencia de los sesgos de observación en la individualización de huellas dactilares y en una serie de entrevistas semiestructuradas con jefes de laboratorios o unidades de ciencias forenses en Suiza y en el extranjero. En la revisión de la literatura, algunas de las áreas estudiadas fueron: la calidad del trabajo en ciencias forenses en general, la interacción compleja entre la ciencia y el derecho, así como otras fuentes de error no relacionadas directamente con la interacción entre derecho y ciencia. También se ha establecido una lista exhaustiva de las fuentes potenciales de error desde la llegada a la escena del crimen a la redacción del informe. En el marco de los tests empíricos, al analizar los sesgos de observación dedicamos especial interés al proceso de ACE-V (análisis, comparación, evaluación y verificación) para la individualización de huellas dactilares puesto que este reposa sobre la observación visual y ha originado varios casos recientes de identificaciones erróneas. Los resultados de las experimentaciones realizadas con estudiantes sugieren que las etapas en las que deben tornarse decisiones son las más vulnerables a lös factores que pueden generar sesgos de observación. En el contexto de las entrevistas semi-estructuradas, once científicos forenses de diversos países contestaron preguntas sobre varios temas, incluyendo las fuentes potenciales y existehtes de error en su trabajo, las limitaciones propias a las ciencias forenses, las posibilidades de reducir al mínimo los errores y las herramientas que podrían ser utilizadas para ello. Se han sugerido diversas soluciones para alcanzar este objetivo, incluyendo el entrenamiento y la educación para aumentar la calidad de las ciencias forenses. Además, se ha establecido el periodo de conservación de las muestras judiciales. Los resultados apuntan a un elevado grado de consenso entre los entrevistados en la mayoría de los temas. Sin embargo, sus opiniones sobre las posibles causas de estos errores y su importancia relativa en las tres etapas de la investigación -la escena del crimen, el laboratorio y la redacción de informe- discrepan con las que predominan ampliamente en la literatura actual. De este modo, esta investigación nos ha permitido obtener una mejor imagen de la interacción entre ciencias forenses y errores judiciales, y comenzar a formular una serie de recomendaciones prácticas para reducirlos al minimo.

Success of referral for alcohol dependent patients from a general hospital: predictive value of patient and process characteristics.

To assess the effectiveness of a multidisciplinary evaluation and referral process in a prospective cohort of general hospital patients with alcohol dependence. Alcohol-dependent patients were identified in the wards of the general hospital and its primary care center. They were evaluated and then referred to treatment by a multidisciplinary team; those patients who accepted to participate in this cohort study were consecutively included and followed for 6 months. Not included patients were lost for follow-up, whereas all included patients were assessed at time of inclusion, 2 and 6 months later by a research psychologist in order to collect standardized baseline patients' characteristics, process salient features and patients outcomes (defined as treatment adherence and abstinence). Multidisciplinary evaluation and therapeutic referral was feasible and effective, with a success rate of 43%for treatment adherence and 28%for abstinence at 6 months. Among patients' characteristics, predictors of success were an age over 45, not living alone, being employed and being motivated to treatment (RAATE-A score < 18), whereas successful process characteristics included detoxification of the patient at time of referral and a full multidisciplinary referral meeting. This multidisciplinary model of evaluation and referral of alcohol dependent patients of a general hospital had a satisfactory level of effectiveness. Predictors of success and failure allow to identify subsets of patients for whom new strategies of motivation and treatment referral should be designed.

Internet and the Catalan Universities Network. Research report (synthesis document)

El desenvolupament de les tecnologies de la informació i la comunicació (TIC) durant els darrers quaranta anys del segle XX i la seva incorporació en els diferents àmbits de l'activitat humana ens porten a plantejar-nos, al començament del segle XXI, quines són les transformacions profundes que acompanyen aquests fets i quines són les conseqüències que, com a mínim a curt termini, comporten. El focus d'aquest projecte és l'anàlisi dels processos de transformació de la vida acadèmica universitària en l'àmbit català, la seva vinculació amb la realitat actual i les repercussions que els processos esmentats tenen en la societat en general. De manera més específica, l'objectiu és, en primer lloc, explorar amb una perspectiva global la incorporació d'Internet a les universitats catalanes i, en segon lloc, analitzar els processos de canvi que aquest fet comporta en els processos de formació i recerca de la Universitat Rovira i Virgili (URV). Aquest informe presenta els resultats de tres estudis concrets, cadascun dels quals té uns objectius, una metodologia i una discussió particulars: Configuració de la xarxa d'universitats catalanes: connexió física i projectes compartits, Presència de les universitats catalanes a Internet, i Estudi de cas: la URV.

A century of research: what have we learned about the interaction of Trypanosoma cruzi with host cells?

Since the discovery of Trypanosoma cruzi and the brilliant description of the then-referred to "new tripanosomiasis" by Carlos Chagas 100 years ago, a great deal of scientific effort and curiosity has been devoted to understanding how this parasite invades and colonises mammalian host cells. This is a key step in the survival of the parasite within the vertebrate host, and although much has been learned over this century, differences in strains or isolates used by different laboratories may have led to conclusions that are not as universal as originally interpreted. Molecular genotyping of the CL-Brener clone confirmed a genetic heterogeneity in the parasite that had been detected previously by other techniques, including zymodeme or schizodeme (kDNA) analysis. T. cruzi can be grouped into at least two major phylogenetic lineages: T. cruzi I, mostly associated with the sylvatic cycle and T. cruzi II, linked to human disease; however, a third lineage, T. cruziIII, has also been proposed. Hybrid isolates, such as the CL-Brener clone, which was chosen for sequencing the genome of the parasite (Elias et al. 2005, El Sayed et al. 2005a), have also been identified. The parasite must be able to invade cells in the mammalian host, and many studies have implicated the flagellated trypomastigotes as the main actor in this process. Several surface components of parasites and some of the host cell receptors with which they interact have been described. Herein, we have attempted to identify milestones in the history of understanding T. cruzi- host cell interactions. Different infective forms of T. cruzi have displayed unexpected requirements for the parasite to attach to the host cell, enter it, and translocate between the parasitophorous vacuole to its final cytoplasmic destination. It is noteworthy that some of the mechanisms originally proposed to be broad in function turned out not to be universal, and multiple interactions involving different repertoires of molecules seem to act in concert to give rise to a rather complex interplay of signalling cascades involving both parasite and cellular components.

Optimized molecular resolution of cross-contamination alerts in clinical mycobacteriology laboratories

BACKGROUND. The phenomenon of misdiagnosing tuberculosis (TB) by laboratory cross-contamination when culturing Mycobacterium tuberculosis (MTB) has been widely reported and it has an obvious clinical, therapeutic and social impact. The final confirmation of a cross-contamination event requires the molecular identification of the same MTB strain cultured from both the potential source of the contamination and from the false-positive candidate. The molecular tool usually applied in this context is IS6110-RFLP which takes a long time to provide an answer, usually longer than is acceptable for microbiologists and clinicians to make decisions. Our purpose in this study is to evaluate a novel PCR-based method, MIRU-VNTR as an alternative to assure a rapid and optimized analysis of cross-contamination alerts. RESULTS. MIRU-VNTR was prospectively compared with IS6110-RFLP for clarifying 19 alerts of false positivity from other laboratories. MIRU-VNTR highly correlated with IS6110-RFLP, reduced the response time by 27 days and clarified six alerts unresolved by RFLP. Additionally, MIRU-VNTR revealed complex situations such as contamination events involving polyclonal isolates and a false-positive case due to the simultaneous cross-contamination from two independent sources. CONCLUSION. Unlike standard RFLP-based genotyping, MIRU-VNTR i) could help reduce the impact of a false positive diagnosis of TB, ii) increased the number of events that could be solved and iii) revealed the complexity of some cross-contamination events that could not be dissected by IS6110-RFLP.

A Thematic Comparison of Eight Frameworks of Quality Criteria in Qualitative Health Research

Background: Despite the increasing incidences of the publication of assessment frameworks intending to establish the "standards" of the quality of qualitative research, the research conducted using such empirical methods are still facing difficulties in being published or recognised by funding agencies. Methods: We conducted a thematic content analysis of eight frameworks from psychology/psychiatry and general medicine. The frameworks and their criteria are then compared against each other. Findings: The results illustrated the difficulties in reaching consensus on the definition of quality criteria. This showed the differences between the frameworks from the point of views of the underlying epistemology and the criteria suggested. Discussion: The aforementioned differences reflect the diversity of paradigms implicitly referred to by the authors of the frameworks, although rarely explicitly mentioned in text. We conclude that the increase in qualitative research and publications has failed to overcome the difficulties in establishing shared criteria and the great heterogeneity of concepts raises methodological and epistemological problems.

Rivaroxaban: Quantification by anti-FXa assay and influence on coagulation tests: a study in 9 Swiss laboratories.

INTRODUCTION: Rivaroxaban (RXA) is licensed for prophylaxis of venous thromboembolism after major orthopaedic surgery of the lower limbs. Currently, no test to quantify RXA in plasma has been validated in an inter-laboratory setting. Our study had three aims: to assess i) the feasibility of RXA quantification with a commercial anti-FXa assay, ii) its accuracy and precision in an inter-laboratory setting, and iii) the influence of 10mg of RXA on routine coagulation tests. METHODS: The same chromogenic anti-FXa assay (Hyphen BioMed) was used in all participating laboratories. RXA calibrators and sets of blinded probes (aim ii.) were prepared in vitro by spiking normal plasma. The precise RXA content was assessed by high-pressure liquid chromatography-tandem mass spectrometry. For ex-vivo studies (aim iii), plasma samples from 20 healthy volunteers taken before and 2 - 3hours after ingestion of 10mg of RXA were analyzed by participating laboratories. RESULTS: RXA can be assayed chromogenically. Among the participating laboratories, the mean accuracy and the mean coefficient of variation for precision of RXA quantification were 7.0% and 8.8%, respectively. Mean RXA concentration was 114±43μg/L .RXA significantly altered prothrombin time, activated partial thromboplastin time, factor analysis for intrinsic and extrinsic factors. Determinations of thrombin time, fibrinogen, FXIII and D-Dimer levels were not affected. CONCLUSIONS: RXA plasma levels can be quantified accurately and precisely by a chromogenic anti-FXa assay on different coagulometers in different laboratories. Ingestion of 10mg RXA results in significant alterations of both PT- and aPTT-based coagulation assays.

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.

Fragile X syndrome is the most common inherited form of intellectual disability. Here we report on a study based on a collaborative registry, involving 12 Spanish centres, of molecular diagnostic tests in 1105 fragile X families comprising 5062 individuals, of whom, 1655 carried a full mutation or were mosaic, three cases had deletions, 1840 had a premutation, and 102 had intermediate alleles. Two patients with the full mutation also had Klinefelter syndrome. We have used this registry to assess the risk of expansion from parents to children. From mothers with premutation, the overall rate of allele expansion to full mutation is 52.5%, and we found that this rate is higher for male than female offspring (63.6% versus 45.6%; P < 0.001). Furthermore, in mothers with intermediate alleles (45-54 repeats), there were 10 cases of expansion to a premutation allele, and for the smallest premutation alleles (55-59 repeats), there was a 6.4% risk of expansion to a full mutation, with 56 repeats being the smallest allele that expanded to a full mutation allele in a single meiosis. Hence, in our series the risk for alleles of <59 repeats is somewhat higher than in other published series. These findings are important for genetic counselling.