Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert / Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

No disponible

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

PREVENTION-ACHD: PRospEctiVE study on implaNTable cardioverter-defibrillator therapy and suddeN cardiac death in Adults with Congenital Heart Disease; Rationale and Design.

BACKGROUND: Many adult congenital heart disease (ACHD) patients are at risk of sudden cardiac death (SCD). An implantable cardioverter-defibrillator (ICD) may prevent SCD, but the evidence for primary prevention indications is still unsatisfactory. STUDY DESIGN: PREVENTION-ACHD is a prospective study with which we aim to prospectively validate a new risk score model for primary prevention of SCD in ACHD patients, as well as the currently existing guideline recommendations. Patients are screened using a novel risk score to predict SCD as well as current ICD indications according to an international Consensus Statement. Patients are followed up for two years. The primary endpoint is the occurrence of SCD and sustained ventricular arrhythmias. The Study was registered at ClinicalTrials.gov (NCT03957824). CONCLUSION: PREVENTION-ACHD is the first prospective study on SCD in ACHD patients. In the light of a growing and aging population of patients with more severe congenital heart defects, more robust clinical evidence on primary prevention of SCD is urgently needed.

Alucinaciones visuales en relación al uso de ertapenem / Visual hallucinations related to use of ertapenem

No disponible

[Characteristics of suicides in Navarra by gender (2010-2013)]. / Características de los suicidios consumados en Navarra en función del sexo (2010-2013).

OBJECTIVE: To determine the number of suicides and the main social and demographic characteristics, time frames and methods involved during the period 2010-2013 in Navarra by gender. METHODS: A study of the Electronic Clinical Records provided by Navarra's Healthcare Service in which suicides in Navarra are detailed. RESULTS: One hundred and eighty individuals committed suicide. The number of suicides remained stable: 41 in 2010, 51 in 2011 and 44 in 2012 and 2013. Seventy-five point four percent were males (n=136) and 24.6 % (n=44) were females. In the 13 to 26 age group, 12 (92.3%) out of 13 suicides were committed by males. In terms of employment status, 49.3% (n=70) were pensioners. The highest rate of suicides was reached in summer (n=71) and spring (n=39). Monday was the day with the highest rate of suicides (n=37) and the time period between 8:00 and 12:00 hours was when the highest number of suicides (n=80) took place. The most usual ways of committing suicide were hanging (n=80), falling from a height (n=41) and pharmacological overdose (n=23). Males used violent methods more frequently. It is necessary to highlight the fact that in some of the sociodemographic characteristics there was up to 60% of cases without enough information. CONCLUSION: The results obtained show some specific features of the phenomenon of suicide in Navarra that should be considered for its prevention. Furthermore, the implementation of effective protocols of data collection is recommended to develop prevention strategies.

Características de los suicidios consumados en Navarra en función del sexo (2010-2013) / Characteristics of suicides in Navarra by gender (2010-2013)

Fundamento: Determinar el número de suicidios y las principales variables sociodemográficas, temporales y métodos empleados en los mismos en Navarra en el periodo 2010-2013 en función del sexo. Material y métodos: Revisión de las historias clínicas informatizadas del Servicio Navarro de Salud-Osasunbidea de los suicidios consumados en Navarra. Resultados: Se produjeron 180 suicidios. El número de suicidios se mantuvo estable: 41 en el año 2010, 51 en el año 2011 y 44 en los años 2012 y 2013. El 75,4% (n=136) eran hombres y el 24,6% (n=44) mujeres. En la franja de edad comprendida entre los 13 y los 26 años de 13 suicidios, 12 (92,3%) fueron de hombres. En cuanto a la situación laboral, el 49,3% (n=70) eran pensionistas. La mayor frecuencia de suicidios se dio en verano (n=71) y primavera (n=39). El lunes fue el día de la semana con más suicidios (n=37) y el intervalo entre las 8:00 y las 12:00 el momento del día en que más suicidios (n=80) se produjeron. Los métodos más empleados fueron el ahorcamiento (n=59), la precipitación desde altura (n=41) y la sobre ingesta farmacológica (n=23). Los varones emplearon con mayor frecuencia métodos violentos. Es necesario destacar que en algunas de las variables sociodemográficas había hasta un 60% de casos sin información. Discusión: Los resultados encontrados muestran algunas especificidades del fenómeno del suicidio en Navarra que deben considerarse para su prevención. Asimismo se recomienda desarrollar e implementar protocolos específicos de recogida de información para mejorar las estrategias preventivas (AU)

Objective: To determine the number of suicides and the main social and demographic characteristics, time frames and methods involved during the period 2010-2013 in Navarra by gender. Methods: A study of the Electronic Clinical Records provided by Navarra's Healthcare Service in which suicides in Navarra are detailed. Results: One hundred and eighty individuals committed suicide. The number of suicides remained stable: 41 in 2010, 51 in 2011 and 44 in 2012 and 2013. Seventyfive point four percent were males (n=136) and 24.6 % (n=44) were females. In the 13 to 26 age group, 12 (92.3%) out of 13 suicides were committed by males. In terms of employment status, 49.3% (n=70) were pensioners. The highest rate of suicides was reached in summer (n=71) and spring (n=39). Monday was the day with the highest rate of suicides (n=37) and the time period between 8:00 and 12:00 hours was when the highest number of suicides (n=80) took place. The most usual ways of committing suicide were hanging (n=80), falling from a height (n=41) and pharmacological overdose (n=23). Males used violent methods more frequently. It is necessary to highlight the fact that in some of the sociodemographic characteristics there was up to 60% of cases without enough information. Conclusion: The results obtained show some specific features of the phenomenon of suicide in Navarra that should be considered for its prevention. Furthermore, the implementation of effective protocols of data collection is recommended to develop prevention strategies (AU)

Determination of trichloroanisole and trichlorophenol in wineries' ambient air by passive sampling and thermal desorption-gas chromatography coupled to tandem mass spectrometry.

The present paper describes the calibration of selected passive samplers used in the quantitation of trichlorophenol and trichloroanisole in wineries' ambient air, by calculating the corresponding sampling rates. The method is based on passive sampling with sorbent tubes and involves thermal desorption-gas chromatography-triple quadrupole mass spectrometry analysis. Three commercially available sorbents were tested using sampling cartridges with a radial design instead of axial ones. The best results were found for Tenax TA™. Sampling rates (R-values) for the selected sorbents were determined. Passive sampling was also used for accurately determining the amount of compounds present in the air. Adequate correlation coefficients between the mass of the target analytes and exposure time were obtained. The proposed validated method is a useful tool for the early detection of trichloroanisole and its precursor trichlorophenol in wineries' ambient air while avoiding contamination of wine or winery facilities.

Reappraisal of classical electrocardiographic criteria in detecting accessory pathways with a strict para-Hisian location.

BACKGROUND: Identification of electrocardiographic (ECG) criteria for para-Hisian accessory pathways (APs) is based on a small series of patients. The presence of a negative delta wave in leads V(1) and V(2) has been suggested as an ECG marker of this AP location. OBJECTIVE: To validate these ECG findings in a large series of patients with strict invasive criteria for that location. METHODS: We included 105 patients (39 women, 66 men; mean age 26 ± 12 years, range 5-82 years) with an ECG pattern compatible with preexcitation through an anteroseptal or midseptal AP following established ECG criteria. A para-Hisian AP was defined when the location of its successful catheter ablation coincided with either the largest recordable His bundle electrogram or a His bundle potential of>0.1 mV. Patients without that definition were included in the control group. RESULTS: A para-Hisian location of the AP was found in 52 patients. AP locations of the remaining 53 patients (control group) were anteroseptal (n = 39), midseptal (n = 9), and fasciculoventricular (n = 5). A negative delta wave in leads V(1) and V(2) was observed in 13 patients with para-Hisian APs (sensitivity 25%; specificity 92%). However, the sum of initial r-wave amplitudes in those leads was<0.5 mV in 44 of the patients with para-Hisian APs and in 13 patients of the control group (sensitivity 85%; specificity 75.5%; area under receiver-operator characteristic curve 0.85). CONCLUSIONS: The presence of negative delta waves in leads V(1) and V(2) indicates a poor sensitivity and high specificity to detect APs with a strict definition of para-Hisian location. The sum of initial r-wave amplitudes in those ECG leads could be a useful, adjunctive marker in the noninvasive identification of these challenging APs.

Volatile composition of partially fermented wines elaborated from sun dried Pedro Ximénez grapes.

In this work, we used a cell immobilisation system consisting of Penicillium chrysogenum fungi (GRAS) bound to the osmotolerant yeast strains Saccharomyces cerevisiae X4 and X5 for the partial fermentation of raisin musts. The resulting wines were compared with others obtained by partial fermentation of musts with free yeasts and with a traditionally produced sweet wine (i.e. without fermentation of the must). The analysis of volatile compounds grouped by aroma series showed the partially fermented musts had a more complex aroma than the traditional wine. Specially prominent among aroma series was that of ripe fruit, followed by the milky and chemical series. The volatiles with the greatest impact on wine aroma as assessed in terms of odour activity were ethyl hexanoate, ethyl octanoate, butyrolactone, isoamyl alcohols, acetaldehyde, ethyl acetate, 2,3-butanediol, acetoin and 2,3-butanedione. A cluster analysis according to the Ward method was performed to assess the similarity between the traditional sweet wine and those obtained by partial fermentation with free and immobilised yeasts revealed small differences between the wines obtained with free and immobilised yeasts, and marked differences between partially fermented and traditionally obtained sweet wine. The wines provided by immobilised yeasts were the most appreciated in the sensory analysis (especially those obtained with X4 yeasts).

Use of two osmoethanol tolerant yeast strain to ferment must from Tempranillo dried grapes: effect on wine composition.

The must from Tempranillo dried grapes was divided into four batches to produce sweet wine. The first one was fortified with ethanol up to 12% (v/v) to avoid fermentation (traditional way). Other two batches were partially fermented with two osmoethanol tolerant Saccharomyces cerevisiae strains (X4 and X5). The last one was fermented with native yeast by spontaneous fermentation. Wines fermented partially with the strains X4 and X5 show high volatile acidity values (above 2g/L expressed as acetic acid), and a glycerol concentration around 20 g/L. Both strains also produce high amount of carboxylic acids and therefore the wines show a high ethyl ester concentration. Aromatic series were obtained for all the wines by grouping aroma compounds according to their odor descriptors. The series of the fermented wines with higher values in relation with the control wine were fruity, sweet and fatty, emphasizing the fruity series in the samples fermented with the X4 and X5 strains. The sensorial analysis of the wine samples by a tasting panel put in evidence that the musts fermented with the osmoethanol tolerant yeasts were better valued than the rest of the wine samples. The must fermented with the X4 strain obtained the maximum score in terms of aroma and flavour. So, the use of these osmoethanol tolerant S. cerevisiae strains could be a suitable alternative to produce sweet wines from must with high sugar concentration. The wines obtained this way are chemically and organoleptically more complex than those elaborated traditionally.

El desfibrilador automático implantable: actualización para médicos de urgencias / The implantable automatic defibrillator: an update for emergency physicians

El desfibrilador automático implantable (DAI) constituye una opción terapéutica de reciente adquisición para el tratamiento y prevención de las arritmias ventriculares y la muerte súbita de origen cardíaco. Durante los últimos años se ha producido una relevante ampliación de sus indicaciones y, dado el creciente número de pacientes en los que hoy se puede identificar un riesgo elevado de padecer estas gravísimas situaciones, también a un aumento exponencial del número de implantes de dispositivos. Por último, los dispositivos más actuales incorporan otras funciones además de la posibilidad de liberar descargas de corriente, como la del registro de eventos arrítmicos, las funciones de estimulación antitaquicardia o antibradicardia y la función de resincronización cardíaca. Todo ello ilustra la importancia de conocer esta nueva arma terapéutica en los escenarios clínicos de la fase aguda. En la presente actualización se discuten los aspectos de mayor interés para los médicos de urgencias relativos a los fundamentos clínicos y electrofisiológicos, funcionamiento e indicaciones actuales de los DAI (AU)

The implantable automatic defibrillator (IAD) represents a recentlyacquired therapeutic option for the prevention and management of ventricular arrhythmias and cardiac sudden death. A significant increase of the indications for its use has occurred over the last few years and, considering the increasing number of patients in whom an increased risk of these most severe complications may today be identified, there has been also an exponential increase in the number of device implantations. Finally, the currently most advanced devices incorporate further functions beyond that of triggering electric discharges, such as arrhythmia event recording, anti-tachycardia or anti-bradycardia stimulation functions, or cardiac resynchronisation therapy. It is thus of utmost importance for the emergency physician to know the possibilities of this new therapeutic tool in all acute-phase clinical scenarios. The present review paper addresses those aspects with the greatest interest for the emergency physicians in the context of clinical and electrophysiological background, device function and current IAD indications (AU)

Effect of a short contact time with lees on volatile composition of Airen and Macabeo wines.

Volatile compounds were analyzed in Airen and Macabeo wines at the end of the alcoholic fermentation and after a short time contact with wine lees. The concentration of 34 analyzed compounds, with the exception of hexyl acetate, linalool, ss-ionone and farnesol, increased significantly after contact with lees in Airen wines. Esters and terpenic compounds decreased significantly in Macabeo wines after contact with lees. The contact with lees could be considered as favourable in Airen wines to improve the aroma quality.

Relationship between ethanol tolerance, H+ -ATPase activity and the lipid composition of the plasma membrane in different wine yeast strains.

Ethanol tolerance, ATPase activity and the lipid composition of the plasma membrane to study potential relationship among them were examined in five different wine yeast strains. Yeast cells were subjected to ethanol stress (4% v/v). Principal component analysis of the results revealed that the wine yeasts studied can be distinguished in terms of ATPase activity and oleic acid (C18:1), and palmitoleic acid (C16:1), in plasma membrane. Multiple regression analysis was used to identify a potential influence of some components of the plasma membrane on ethanol tolerance and ATPase activity. Based on the results, the ergosterol, oleic acid and palmitoleic acid are highly correlated with ATPase activity and ethanol tolerance. Ethanol tolerance and the ATPase activity of the plasma membrane were correlated at the 96.64% level with the oleic acid and ergosterol in plasma membrane. The Saccharomyces cerevisiae var. capensis flor yeast strain, which exhibited the highest ergosterol concentration in plasma membrane when grown in the presence of 4% v/v ethanol, was found to be the most ethanol-tolerant.

Manejo de los pacientes portadores de un desfibrilador automático implantable en los servicios de urgencias hospitalarias / Management of emergencies in patients with implantable cardioverter defibrillator

El desfibrilador automático implantable (DAI) constituye una de las principales opciones terapéuticas en los pacientes con arritmias ventriculares malignas, muerte súbita cardiaca o elevado riesgo de desarrollarlas. Por ello, el número de implantes de DAI y, por consiguiente, el número de pacientes portadores de DAI que presentan alguna complicación relacionada con el mismo ha aumentado significativamente en la última década. Estos pacientes se han convertido en frecuentadores potenciales de los Servicios de Urgencias Hospitalarios (SUH), hecho que, sin duda, se verá incrementado en los próximos años. El panel de consenso del Grupo de Trabajo de DAI de la Sección de Electrofisiología y Arritmias de la Sociedad Española de Cardiología (SEC) y el Grupo de Arritmias Cardíacas de la Sociedad Española de Medicina de Urgencias y Emergencias (SEMES) han elaborado un documento en el que se detallan las recomendaciones para el manejo de las principales situaciones urgentes que pueden presentar estos pacientes. El objetivo del mismo es mejorar la atención médica de éstos y promover un uso más racional de los recursos en los SUH. En él se hace especial hincapié en la evaluación inicial del paciente con DAI en el SUH y en las causas y manejo de las principales complicaciones: descargas del DAI esporádicas y múltiples, parada cardiaca, ausencia de intervención durante una arritmia ventricular, proarritmia inducida por el DAI, fallo de estimulación, síncope, infección del dispositivo, trombosis venosa asociada al DAI, interferencia con técnicas diagnósticas y terapéuticas, síndromes psiquiátricos en pacientes con DAI, alarmas acústicas, palpitaciones no asociadas a descargas y recomendaciones en pacientes terminales (AU)

Implantable cardioverter-defibrillators (ICD) have become one of the most important therapeutic options for patients with or with high risk of having life-threatening ventricular arrhythmias. Therefore, the number of device continues to grow and an increasing number of patients are experiencing complications related to ICD. Because these patients are potentials users of Emergency departments the number of visits related to ICD will be increase in the next years. The Consensus panel of the Working Group on ICD of the Electrophysiology and Arryhtmia Section of the Spanish Society of Cardiology and the Working Group on Cardiac Arrhythmia of the Spanish Society of Emergency Medicine has developed a Consensus Document in which the main recommendations on the diagnosis and management of the emergency situations that could present these patients are reviewed. Its main objective is to facilitate delivery of optimal care for these patients and to promote a more rational use of the Emergency departments. In this document, special emphasis is done on the initial evaluation for the ICD patient at the Emergency department and on the causes and management of the main complications: single and multiple shocks, cardiac arrest, ventricular tahcyarrhythmias without ICD intervention, ICD-induced proarrhythmia, pacing malfunction, syncope, ICD system infection, venous thrombosis associated to ICD, interferences with diagnostic and therapeutic procedures, psychiatric syndromes in patients with ICD, acoustic alarms, palpitations not related to ICD shocks and terminal care issues (AU)