Summer truffle in the Iberian Peninsula: current status and crop potential

La trufa de verano (Tuber aestivum, incluyendo Tuber uncinatum) es una especie de un gran valor económico y social, que se produce de modo silvestre en toda Europa, norte de África y parte de Oriente medio. Los esfuerzos de cultivo de esta especie en la península ibérica han permanecido en un segundo plano debido a las condiciones adecuadas de ciertos terrenos para cultivar especies de mayor valor económico, como la trufa negra (Tuber melanosporum). Sin embargo, la trufa de verano es una alternativa viable y muy productiva para zonas de dudosa aptitud para T. melanosporum. En este trabajo, mediante revisión bibliográfica, se ponen de manifiesto los siguientes aspectos: la distribución y ecología de T. aestivum, la situación actual del cultivo, así como las perspectivas de futuro propias de esta especie en la península ibérica. En rasgos generales, se ha constatado su mayor amplitud ecológica y geográfica en relación a la trufa negra y se ha observado que es un cultivo incipiente pero en crecimiento. Sin embargo, se ha deducido que aún es necesario realizar un gran esfuerzo para dar a conocer este producto tanto a cultivadores como a consumidores potenciales en España así como divulgar aspectos técnicos sobre la gestión de su cultivo.Summer truffle (Tuber aestivum, including Tuber uncinatum) is a species of great economic and social value. Wild summer truffles are produced all over Europe, North Africa and part of the Middle East. This species has been underutilized in the Iberian Peninsula due to ability of certain areas to cultivate species of greater economic value, such as the black truffle (Tuber melanosporum). However, the summer truffle is an alternative species for areas where the black truffle is not well adapted. In this paper, the distribution and ecology of T. aestivum, the current situation and the future prospects of this crop in the Iberian Peninsula is reviewed. Summer truffle is a growing crop, well adapted in greater ecological and geographical areas than black truffle. However, it is still necessary to carry out further efforts to publicize it to both growers and consumers in Spain and to spread technical aspects of its managementPublishe

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported patients with mosaic disease-causing variants in NIPBL and performing a retrospective cohort study from a Spanish CdLS diagnostic center. By reviewing the literature and combining our findings with previously published data, we demonstrate a negative selection against somatic deleterious NIPBL variants in blood. Furthermore, the analysis of all reported cases indicates an unusual high prevalence of mosaicism in CdLS, occurring in 13.1% of patients with a positive molecular diagnosis. It is worth noting that most of the affected individuals with mosaicism have a clinical phenotype at least as severe as those with constitutive pathogenic variants. However, the type of genetic change does not vary between germline and somatic events and, even in the presence of mosaicism, missense substitutions are located preferentially within the HEAT repeat domain of NIPBL. In conclusion, the high prevalence of mosaicism in CdLS as well as the disparity in tissue distribution provide a novel orientation for the clinical management and genetic counselling of families

Prevalence and features of ICF-disability in Spain as captured by the 2008 National Disability Survey

<p>Abstract</p> <p>Background</p> <p>Since 1986, the study of disability in Spain has been mainly addressed by National Disability Surveys (NDSs). While international attempts to frame NDS designs within the International Classification of Functioning, Disability and Health (ICF) have progressed, in general, the ICF has hardly been used in either the NDS or epidemiological studies. This study sought to identify ICF Activity- and Participation-related content in the most recent Spanish NDS, the 2008 Survey on Disabilities, Independence and Dependency Situations (<it>Encuesta sobre discapacidades, autonomía personal y situaciones de Dependencia </it>- <it>EDAD 2008</it>), and estimate the prevalence of such ICF-framed disability.</p> <p>Methods</p> <p><it>EDAD 2008 </it>methods and questions were perused. Of the 51 EDAD items analysed, 29 were backcoded to specific d2-d7 domains of the ICF Checklist and, by rating the recorded difficulty to perform specific tasks with or without help, these were then taken as performance and capacity respectively. A global ICF score was also derived, albeit lacking data for d1, "Learning and applying knowledge", d8, "Major Life Areas" and d9, "Community, Social and Civic Life". Data were grouped by sex, age, residence and initial positive screening, and prevalence figures were calculated by disability level both for the general population, using the originally designed weights, and for the population that had screened positive to disability. Data for institutionalised persons were processed separately.</p> <p>Results</p> <p>Crude prevalence of ICF severe/complete and moderate disability among the community-dwelling population aged ≥6 years was 0.9%-2.2% respectively, and that of severe/complete disability among persons living in sheltered accommodation was 0.3%.</p> <p>Prevalence of severe/complete disability was: higher in women than in men, 0.8% vs. 0.4%; increased with age; and was particularly high in domains such as "Domestic Life", 3.4%, "Mobility", 1.8%, and "Self-care", 1.9%, in which prevalence decreased when measured by reference to performance. Moreover, global scores indicated that severe/complete disability in these same domains was frequent among the moderately disabled group.</p> <p>Conclusions</p> <p>The <it>EDAD 2008 </it>affords an insufficient data set to be ICF-framed when it comes to the Activity and Participation domains. Notwithstanding their unknown validity, ratings for available ICF domains may, however, be suitable for consideration under the ADL model of functional dependency, suggesting that there are approximately 500,000 persons suffering from severe/complete disability and 1,000,000 suffering from moderate disability, with half the latter being severely disabled in domains capable of benefiting from technical or personal aid. Application of EDAD data to the planning of services for regions and other subpopulations means that need for personal help must be assessed, unmet needs ascertained, and knowledge of social participation and support, particularly for the mentally ill, improved. International, WHO-supported co-operation in ICF planning and use of NDSs in Spain and other countries is needed.</p

Antiinflammatory Therapy with Canakinumab for Atherosclerotic Disease

Background: Experimental and clinical data suggest that reducing inflammation without affecting lipid levels may reduce the risk of cardiovascular disease. Yet, the inflammatory hypothesis of atherothrombosis has remained unproved. Methods: We conducted a randomized, double-blind trial of canakinumab, a therapeutic monoclonal antibody targeting interleukin-1β, involving 10,061 patients with previous myocardial infarction and a high-sensitivity C-reactive protein level of 2 mg or more per liter. The trial compared three doses of canakinumab (50 mg, 150 mg, and 300 mg, administered subcutaneously every 3 months) with placebo. The primary efficacy end point was nonfatal myocardial infarction, nonfatal stroke, or cardiovascular death. RESULTS: At 48 months, the median reduction from baseline in the high-sensitivity C-reactive protein level was 26 percentage points greater in the group that received the 50-mg dose of canakinumab, 37 percentage points greater in the 150-mg group, and 41 percentage points greater in the 300-mg group than in the placebo group. Canakinumab did not reduce lipid levels from baseline. At a median follow-up of 3.7 years, the incidence rate for the primary end point was 4.50 events per 100 person-years in the placebo group, 4.11 events per 100 person-years in the 50-mg group, 3.86 events per 100 person-years in the 150-mg group, and 3.90 events per 100 person-years in the 300-mg group. The hazard ratios as compared with placebo were as follows: in the 50-mg group, 0.93 (95% confidence interval [CI], 0.80 to 1.07; P = 0.30); in the 150-mg group, 0.85 (95% CI, 0.74 to 0.98; P = 0.021); and in the 300-mg group, 0.86 (95% CI, 0.75 to 0.99; P = 0.031). The 150-mg dose, but not the other doses, met the prespecified multiplicity-adjusted threshold for statistical significance for the primary end point and the secondary end point that additionally included hospitalization for unstable angina that led to urgent revascularization (hazard ratio vs. placebo, 0.83; 95% CI, 0.73 to 0.95; P = 0.005). Canakinumab was associated with a higher incidence of fatal infection than was placebo. There was no significant difference in all-cause mortality (hazard ratio for all canakinumab doses vs. placebo, 0.94; 95% CI, 0.83 to 1.06; P = 0.31). Conclusions: Antiinflammatory therapy targeting the interleukin-1β innate immunity pathway with canakinumab at a dose of 150 mg every 3 months led to a significantly lower rate of recurrent cardiovascular events than placebo, independent of lipid-level lowering. (Funded by Novartis; CANTOS ClinicalTrials.gov number, NCT01327846.

Gallstone ileus: management options and results on a series of 40 patients Íleo biliar: opciones terapéuticas y resultados en una serie de 40 casos

Introduction: controversy remains about the management of gallstone ileus. While some authors propose enterotomy, others defend the one-stage procedure (simultaneously fistula repair). The objective of the present study was to analyze management options and comparative study their results. Material and methods: retrospective and descriptive study with revision of clinical stories of patients with the diagnosis of gallstone ileus between 1987 and 2008. All the following variables were recorded: dates of hospital admission, surgery and discharge, age, sex, pathological antecedents, preoperative or intraoperative diagnosis, treatment, location of the fistula and location of the obstruction. End-result variables were: postoperative complications, mortality, complications during the follow-up and biliary complications. Results: a total of 40 patients were included of 46,648 admissions. Age, comorbidity, and intraoperative diagnosis were related with poorer short- and long-outcomes. The percentage of postoperative complications was similar for groups with and without fistula repair. Mortality was higher in the group with fistula repair (15vs. 25%). Biliary complications were more frequent in the group without fistula repair (11 vs. 0%). Sex, location of the fistula and location of the obstruction did not be related with the prognosis. Conclusion: one-stage procedure is related with higher mortality rate than enterotomy alone. Nevertheless, fistula repair reduces the number of biliary complications during the follow-up.<br>Introducción: todavía existe gran controversia sobre el mejor tratamiento del íleo biliar. Algunos autores proponen la enterotomía aislada, mientras otros defienden la reparación de la fístula bilioentérica en el mismo acto quirúrgico. El objetivo del presente estudio fue analizar las opciones terapéuticas en estos pacientes y estudiar sus resultados. Material y métodos: estudio retrospectivo y descriptivo, con revisión de las historias clínicas de los pacientes diagnosticados de íleo biliar desde 1987 hasta 2008. Se recogieron las fechas de ingreso, de intervención y del alta, edad, sexo, antecedentes patológicos, diagnóstico preoperatorio o intraoperatorio, tratamiento, lugar de la fístula y lugar de la obstrucción. Como variables de resultado se utilizaron las complicaciones postoperatorias, mortalidad, complicaciones en el seguimiento y complicaciones biliares. Resultados: se incluyeron 40 pacientes sobre 46.648 ingresos. La edad, la comorbilidad y el diagnóstico intraoperatorio se relacionaron con peores resultados a corto y largo plazo. El porcentaje de complicaciones postoperatorias fue similar para el grupo con abordaje de la fístula y para el grupo con enterotomía aislada. La mortalidad fue superior en el grupo con abordaje de la fístula (15 frente a 25%). Las complicaciones biliares fueron más frecuentes en el grupo sin abordaje de la fístula biliar (11 frente a 0%). El sexo, lugar de la fístula o el lugar de la obstrucción no demostraron diferencias. Conclusión: la cirugía en un solo tiempo se relaciona con mayor mortalidad que la enterotomía aislada. No obstante, añadir la reparación de la fístula reduce el número de complicaciones biliares en el seguimiento

La trufa de verano en la Península Ibérica: Estado actual y potencialidad de cultivo

La trufa de verano (Tuber aestivum, incluyendo Tuber uncinatum) es una especie de un gran valor económico y social, que se produce de modo silvestre en toda Europa, norte de África y parte de Oriente medio. Los esfuerzos de cultivo de esta especie en la península ibérica han permanecido en un segundo plano debido a las condiciones adecuadas de ciertos terrenos para cultivar especies de mayor valor económico, como la trufa negra (Tuber melanosporum). Sin embargo, la trufa de verano es una alternativa viable y muy productiva para zonas de dudosa aptitud para T. melanosporum. En este trabajo, mediante revisión bibliográfica, se ponen de manifiesto los siguientes aspectos: la distribución y ecología de T. aestivum, la situación actual del cultivo, así como las perspectivas de futuro propias de esta especie en la península ibérica. En rasgos generales, se ha constatado su mayor amplitud ecológica y geográfica en relación a la trufa negra y se ha observado que es un cultivo incipiente pero en crecimiento. Sin embargo, se ha deducido que aún es necesario realizar un gran esfuerzo para dar a conocer este producto tanto a cultivadores como a consumidores potenciales en España así como divulgar aspectos técnicos sobre la gestión de su cultivo. Summer truffle (Tuber aestivum, including Tuber uncinatum) is a species of great economic and social value. Wild summer truffles are produced all over Europe, North Africa and part of the Middle East. This species has been underutilized in the Iberian Peninsula due to ability of certain areas to cultivate species of greater economic value, such as the black truffle (Tuber melanosporum). However, the summer truffle is an alternative species for areas where the black truffle is not well adapted. In this paper, the distribution and ecology of T. aestivum, the current situation and the future prospects of this crop in the Iberian Peninsula is reviewed. Summer truffle is a growing crop, well adapted in greater ecological and geographical areas than black truffle. However, it is still necessary to carry out further efforts to publicize it to both growers and consumers in Spain and to spread technical aspects of its management