Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain.

OBJECTIVE: Patients' psychological reactions to multigene cancer panel testing might differ compared with the single-gene testing reactions because of the complexity and uncertainty associated with the different possible results. Understanding patients' preferences and psychological impact of multigene panel testing is important to adapt the genetic counselling model. METHODS: One hundred eighty-seven unrelated patients with clinical suspicion of hereditary cancer undergoing a 25-gene panel test completed questionnaires after pretest genetic counselling and at 1 week, 3 months, and 12 months after results to elicit their preferences regarding results disclosure and to measure their cancer worry and testing-specific distress and uncertainty. RESULTS: A pathogenic variant was identified in 38 patients (34 high penetrance and 4 moderate penetrance variants), and 54 patients had at least one variant of uncertain significance. Overall, cancer panel testing was not associated with an increase in cancer worry after results disclosure (P value = .87). Twelve months after results, carriers of a moderate penetrance variant had higher distress and uncertainty scores compared with carriers of high penetrance variants. Cancer worry prior to genetic testing predicted genetic testing specific distress after results, especially at long term (P value <.001). Most of the patients reported the wish to know all genetic results. CONCLUSIONS: Our results suggest that patients can psychologically cope with cancer panel testing, but distress and uncertainty observed in carriers of moderate penetrance cancer variants in this cohort warrant further research.

[Genetics components in patients with temporal lobe epilepsy]. / Factores genéticos asociados a la epilepsia del lóbulo temporal.

INTRODUCTION: Epilepsy is one of the major neurological disorders characterized by spontaneous and recurrent seizures. Traditionally temporal lobe epilepsy (TLE) was considered as a multifactorial syndrome due to environmental factors. Advances in molecular biology have facilitated the detection of many genetic alterations that may have a pathogenic effect in ELT. Recently, many authors show evidence about the existence of genetic components as the source of some types of ELT. DEVELOPMENT: This review aims to provide an overview of mutations and polymorphisms associated with temporal lobe epilepsy, which have been described in scientific literature and its contribution to the pathophysiology of epileptogenesis. We have reviewed the following genes; LGI1, PDYN (prodynorphin), interleucine 1beta, PRPN (prion protein), ApoE (apolipoprotein E), GABBR1, SCN1A, SCN1B, KCNA1, KCND2. CONCLUSION: The ELT is a complex disease and its development could depend on either genetics factors or other factors. Functional studies are necessary in order to correlate its molecular basis and their development.

La utilización de las pruebas de laboratorio en la hipercolesterolemia: una nueva metodología en la evaluación de la práctica clínica / No disponible

OBJETIVO. Evaluación de la utilidad del sistema de información del laboratorio (SIL) para evaluar la solicitud de las pruebas de laboratorio en la hipercolesterolemia en Atención Primaria y su adecuación a los estándares de prácticas nacionales e internacionales. MATERIAL Y MÉTODO. Se trata de un estudio transversal realizado en el año 2000 y en el año 2003 junto con un seguimiento no concurrente. Se incluyen todos los individuos con una o dos extracciones de colesterol en el año 2000 (17.815) o 2003 (12.743) y al menos una determinación de colesterol total en el primer trimestre. Se miden la frecuencia, el porcentaje y el intervalo de confianza (IC) para una probabilidad del 95,0% de los niveles del colesterol total y delas pruebas lipídicas utilizadas tanto en la primera como en la segunda extracción, así como el intervalo de tiempo transcurrido entre la primera y la segunda extracción. RESULTADOS. En el año 2000, el 65,2% (IC = 64,5-65,9) de los pacientes tenía una cifra de colesterol mayor de 200 mg/dl. En el año 2003 este porcentaje fue del 50,1% (IC =49,3-51,0). La prueba más solicitada en la segunda extracción fue el colesterol total y se registró una disminución significativa en la utilización combinada de colesterol total, triglicéridos y colesterol unido a lipoproteínas de alta densidad en el año 2003 con respecto al año 2000. El intervalo de tiempo entre la primera y la segunda solicitud de pruebas lipídicas fue mayor de 89 días del 86,43% (IC = 85,1-87,6) en el año 2000 y del 83,24% (IC = 80,9-85,4) en el año 2003. CONCLUSIONES. El SIL puede ser un instrumento útil para medir la práctica clínica de los médicos de Atención Primaria y para comparar su conducta en relación con las guías de práctica clínica

OBJECTIVE. To evaluate the usefulness of the laboratory information system (LIS) to evaluate request for laboratory tests in hypercholesterolemia in Primary Health Care and its adjustment. MATERIAL AND METHODS. Cross-sectional study in the year 2000 and the year 2003 together with a non-concurrent follow-up. All individuals with one or two blood drawings for cholesterol in 2000 (17,815) or 2003 (12,743) and at least one total cholesterol measurement in the first quarter were included. Frequency, percentage and likelihood of 95% confidence intervals for total cholesterol and lipids tests used in the first and the second drawings and in the request interval between the first and the second drawing were measured. RESULTS. In 2000, cholesterol level in 65.2% (CI: 64.5-65.9) of the patients was higher than 200 mg/dl. In 2003this percentage was 50.1% (CI: 49.3-51.0). The test requested most during the second drawing was total cholesterol level, there being a significant decrease in the combined use of total cholesterol, triglycerides and HDL-cholesterol in 2003compared to year 2000. Time interval between the first and second request for lipid tests was greater than 89 days in86.43% (CI: 85.1-87.6) in 2000 and 83.24% (CI: 80.9-85.4) in 2003. CONCLUSIONS. LIS can be a useful instrument to analyze the clinical practice of Primary Care doctors and to compare their conduct in relationship with the clinical practice guidelines

Comparación de las guías de práctica clínica de riesgo vascular / Comparison of vascular risk clinical practice guides

OBJETIVO. En estos últimos años diversos autores y organizaciones han desarrollado guías de práctica clínica (GPC) con recomendaciones para el manejo del paciente con riesgo vascular. El objetivo es la descripción de la variabilidad existente entre las recomendaciones de las distintas GPC. MÉTODOS. Se comparan los autores de las distintas GPC y si están basadas en la evidencia y en el riesgo vascular (los factores de riesgo, el método de estimación y su estratificación), tanto en aquellas guías de carácter internacional, que son la referencia bibliográfica de las guías españolas, como en las GPC nacionales en Atención Primaria. RESULTADOS. Las GPC están basadas en la evidencia o en la adaptación de otras GPC ya existentes. La importancia de las últimas versiones de las GPC radica en la llamada de atención sobre los nuevos marcadores potenciales de las enfermedades cardiovasculares (ECV): la homocisteína, los marcadores de inflamación, los factores trombogénicos, los factores genéticos, la microalbuminuria y la aterosclerosis subclínica. También prestan mayor atención al síndrome metabólico. CONCLUSIONES. Existe variabilidad entre las GPC revisadas tanto en los autores como en los factores de riesgo contemplados y en el método de estimar y de estratificar el riesgo. Los nuevos marcadores de ECV todavía no se consideran aplicables en la estimación de riesgo cardiovascular rutinario de la ECV. Se espera que la combinación de los factores de riesgo tradicionales y de los factores de riesgo que emergen facilite la valoración del riesgo global de los pacientes con el fin de optimizar los esfuerzos diagnósticos y terapéuticos. Sugerimos que en la práctica clínica los médicos de Atención Primaria utilicen la GPC editada por la semFYC II

OBJECTIVES: In recent years, several authors and organizations have developed clinical practice guides (CPG) with recommendations for the management of patients with vascular risk. Description of existing variability between recommendations of the different CPG. METHODS. A comparison is made of authors of the different CPG and if they are based on evidence and vascular risk (risk factors, estimation method and its stratification) both in those international guides, that are the bibliographic reference of the Spanish guidelines, as well as in the national CPG in Primary Care. RESULTS. The CPG are based on evidence or the adaptation of other already existing CPG. The importance of the last versions of the CPG is found in the call to attention on the new potential markers of cardiovascular diseases: homocysteine, inflammation markers, thrombogenic factors, genetic factors, microalbuminuria and subclinical atherosclerosis. Greater attention is also given to the metabolic syndrome. CONCLUSIONS. There is variability between the CPG reviewed both in the authors and in the risk factors contemplated and in the method of estimating and stratifying risk. The new CVD markers are still not considered applicable in the estimation of routine cardiovascular risk of CVD. It is hoped that the combination of the traditional risk factors and the risk factors that emerge will facilitate the assessment of global risk of the patients in order to optimize diagnostic and therapeutic efforts. We suggest that Primary Care physicians use the CPG edited by the semFYC (Spanish Society of Family and Community Medicine) II in the clinical practice

[Attitude of primary care doctors to follow-up dyslipidemias]. / Actitud de los médicos de atención primaria en el seguimiento de las dislipemias.

OBJECTIVE: To know the opinion of primary care physicians about the criteria that they use in the request of the laboratories tests of hyperlipidemia and to confirm the above-mentioned opinion with the parameters edited in some guides of clinical practice published on hyperlipidemia. DESIGN: Transverse and descriptive study. Accomplishment of 2 questionnaires, one by internal post and another one through personal or telephonic interview. Comparison of most important guides of clinical practice. EMPLACEMENT: Primary care of an area of Madrid. PARTICIPANTS: In the survey directed to all the 199 primary care physicians, 116 valid answers were obtained. In the survey directed to all 20 coordinators of the centers of primary care, 16 valid answers were obtained. MEASUREMENTS: The frequency, the percentage and the confidence interval. RESULT: 109 (94%) of the primary care physicians request laboratories tests in the goal to exclude secondary reasons of hyperlipidemia. The LDL-cholesterol is considered to be a suitable test for the follow-up of the hyperlipidemia by 108 (93.0%) primary care physicians. According to the opinion of the coordinators, the year of edition and/or review of the existing guide in the center changes between 1992-2000. CONCLUSIONS: As strategy of improvement of the clinical practice it is necessary to realize and support an updated guide of clinical practice, where the suitable tests are defined to look for the etiología of hyperlipidemia, the determinations that must be requested for the initial control of the treatment and with which periodicity they are requested.