Síndrome de apneas-hipopneas y narcolepsia. Descripción de una serie hospitalaria / Sleep apnoea-hypopnoea syndrome and narcolepsy. Description of a series of hospital patients

Introducción. Los trastornos del sueño son muy prevalentes en la población general; sin embargo, la asociación de síndrome de apneas-hipopneas (SAHS) en pacientes con narcolepsia se ha descrito en pocas ocasiones. Se revisan los trastornos del sueño encontrados en pacientes con narcolepsia, la prevalencia de SAHS asociado a estos pacientes y su respuesta a los tratamientos. Pacientes y métodos. Análisis descriptivo retrospectivo observacional de 25 pacientes, con diagnóstico de narcolepsia, atendidos en nuestro centro desde octubre de 2012 hasta diciembre de 2016. Resultados. De 470 pacientes valorados en la consulta monográfica de neurología, hemos diagnosticado a 25 pacientes con narcolepsia (5,31%); el 65% eran hombres, y el 35%, mujeres. Edad media en el momento del diagnóstico: 40 años. El 60% presenta otros trastornos del sueño asociados, el más frecuente es el SAHS (36%). La eficacia del tratamiento con presión aérea positiva continua nasal (CPAP) es del 66% en los pacientes con SAHS con indicación de CPAP. Conclusiones. El 60% de los pacientes con narcolepsia asocia un segundo trastorno del sueño (mayor que la incidencia de coexistencia en la población general, del 20-25% de los pacientes), y los descritos también son los más frecuentes en la población general (SAHS, síndrome de piernas inquietas, movimientos periódicos de las piernas). El 36% de los pacientes con narcolepsia asocia SAHS. De ellos, en el 78% se ha conseguido un control de eventos respiratorios adecuado; el 57% se ha controlado con CPAP y el 43% restante no ha precisado CPAP por corrección de eventos con otros métodos (AU)

Introduction. Sleep disorders are highly prevalent among the general population, although very few cases of sleep apnoea-hypopnoea syndrome (SAHS) have been reported in patients with narcolepsy. This study reviews the sleep disorders found in patients with narcolepsy, the prevalence of SAHS associated with these patients and their response to the different treatments. Patients and methods. We conducted an observation-based retrospective descriptive analysis of 25 patients diagnosed with narcolepsy, who were treated in our centre between October 2012 and December 2016. Results. Of 470 patients evaluated in the specialised neurology consultation unit, 25 patients were diagnosed with narcolepsy (5.31%); 65% were males and the remaining 35% were females; the mean age at the time of diagnosis was 40 years. 60% presented other associated sleep disorders, the most frequent being SAHS (36%). The efficacy rate of treatment with continuous positive airway pressure (CPAP) is 66% in patients with SAHS with an indication of CPAP. Conclusions. Altogether, 60% of patients with narcolepsy have a second associated sleep disorder (greater than the incidence of coexistence in the general population, of 20-25% of patients), and those reported are also the most frequent among the general population (SAHS, restless legs syndrome, periodic limb movement disorder). 36% of patients with narcolepsy have SAHS as an associated condition. Of these, 78% have reached a suitable degree of control over respiratory events; 57% have achieved control with CPAP, and the remaining 43% did not require CPAP for event correction with other methods (AU)

Quantitative bioimaging of trace elements in the human lens by LA-ICP-MS.

Laser ablation inductively coupled plasma mass spectrometry (LA-ICP-MS) was used for the quantitative imaging of Fe, Cu and Zn in cryostat sections of human eye lenses and for depth profiling analysis in bovine lenses. To ensure a tight temperature control throughout the experiments, a new Peltier-cooled laser ablation cell was employed. For quantification purposes, matrix-matched laboratory standards were prepared from a pool of human lenses from eye donors and spiked with standard solutions containing different concentrations of natural abundance Fe, Cu and Zn. A normalisation strategy was also carried out to correct matrix effects, lack of tissue homogeneity and/or instrumental drifts using a thin gold film deposited on the sample surface. Quantitative images of cryo-sections of human eye lenses analysed by LA-ICP-MS revealed a homogeneous distribution of Fe, Cu and Zn in the nuclear region and a slight increase in Fe concentration in the outer cell layer (i.e. lens epithelium) at the anterior pole. These results were assessed also by isotope dilution mass spectrometry, and Fe, Cu and Zn concentrations determined by ID-ICP-MS in digested samples of lenses and lens capsules.

Design and evaluation of a new Peltier-cooled laser ablation cell with on-sample temperature control.

A new custom-built Peltier-cooled laser ablation cell is described. The proposed cryogenic cell combines a small internal volume (20 cm(3)) with a unique and reliable on-sample temperature control. The use of a flexible temperature sensor, directly located on the sample surface, ensures a rigorous sample temperature control throughout the entire analysis time and allows instant response to any possible fluctuation. In this way sample integrity and, therefore, reproducibility can be guaranteed during the ablation. The refrigeration of the proposed cryogenic cell combines an internal refrigeration system, controlled by a sensitive thermocouple, with an external refrigeration system. Cooling of the sample is directly carried out by 8 small (1 cm×1 cm) Peltier elements placed in a circular arrangement in the base of the cell. These Peltier elements are located below a copper plate where the sample is placed. Due to the small size of the cooling electronics and their circular allocation it was possible to maintain a peephole under the sample for illumination allowing a much better visualization of the sample, a factor especially important when working with structurally complex tissue sections. The analytical performance of the cryogenic cell was studied using a glass reference material (SRM NIST 612) at room temperature and at -20°C. The proposed cell design shows a reasonable signal washout (signal decay within less than 10 s to background level), high sensitivity and good signal stability (in the range 6.6-11.7%). Furthermore, high precision (0.4-2.6%) and accuracy (0.3-3.9%) in the isotope ratio measurements were also observed operating the cell both at room temperature and at -20°C. Finally, experimental results obtained for the cell application to qualitative elemental imaging of structurally complex tissue samples (e.g. eye sections from a native frozen porcine eye and fresh flower leaves) demonstrate that working in cryogenic conditions is critical in such type of direct sample analysis.

Gold internal standard correction for elemental imaging of soft tissue sections by LA-ICP-MS: element distribution in eye microstructures.

Laser ablation coupled to inductively coupled plasma mass spectrometry has been developed for the elemental imaging of Mg, Fe and Cu distribution in histological tissue sections of fixed eyes, embedded in paraffin, from human donors (cadavers). This work presents the development of a novel internal standard correction methodology based on the deposition of a homogeneous thin gold film on the tissue surface and the use of the (197)Au(+) signal as internal standard. Sample preparation (tissue section thickness) and laser conditions were carefully optimized, and internal normalisation using (197)Au(+) was compared with (13)C(+) correction for imaging applications. (24)Mg(+), (56)Fe(+) and (63)Cu(+) distributions were investigated in histological sections of the anterior segment of the eye (including the iris, ciliary body, cornea and trabecular meshwork) and were shown to be heterogeneously distributed along those tissue structures. Reproducibility was assessed by imaging different human eye sections from the same donor and from ten different eyes from adult normal donors, which showed that similar spatial maps were obtained and therefore demonstrate the analytical potential of using (197)Au(+) as internal standard. The proposed analytical approach could offer a robust tool with great practical interest for clinical studies, e.g. to investigate trace element distribution of metals and their alterations in ocular diseases.

Laser ablation ICP-MS for quantitative biomedical applications.

LA-ICP-MS allows precise, relatively fast, and spatially resolved measurements of elements and isotope ratios at trace and ultratrace concentration levels with minimal sample preparation. Over the past few years this technique has undergone rapid development, and it has been increasingly applied in many different fields, including biological and medical research. The analysis of essential, toxic, and therapeutic metals, metalloids, and nonmetals in biomedical tissues is a key task in the life sciences today, and LA-ICP-MS has proven to be an excellent complement to the organic MS techniques that are much more commonly employed in the biomedical field. In order to provide an appraisal of the fast progress that is occurring in this field, this review critically describes new developments for LA-ICP-MS as well as the most important applications of LA-ICP-MS, with particular emphasis placed on the quantitative imaging of elements in biological tissues, the analysis of heteroatom-tagged proteins after their separation and purification by gel electrophoresis, and the analysis of proteins that do not naturally have ICP-MS-detectable elements in their structures, thus necessitating the use of labelling strategies.

Absolute quantification of human serum transferrin by species-specific isotope dilution laser ablation ICP-MS.

We report for the first time the absolute quantification of a metalloprotein separated by nondenaturing gel electrophoresis (GE) using laser ablation inductively coupled plasma mass spectrometry (LA-ICP-MS) in combination with species-specific isotope dilution mass spectrometry (IDMS). The proposed method is based on the use of an isotopically enriched (57)Fe-transferrin complex to quantify natural transferrin (Tf) in human serum samples. First, the saturation process of Tf with natural abundance or isotopically enriched (57)Fe was accomplished by using freshly synthesized Fe-citrate solutions. The stability of the metal-protein complex as well as its stoichiometry was investigated by spectrophotometry and ICP-MS, demonstrating a satisfactory stability over a period of at least one month and a molar ratio Fe:Tf of 1.94 ± 0.09, which is close to the expected value of 2. The species-specific IDMS method was compared with external calibration using the Fe-Tf (absolute Tf amount between 2 and 10 µg) and different sample preparation procedures (stained and nonstained gels) as well as two laser ablation strategies (single line ablation in the direction perpendicular or horizontal to the electrophoretic migration) were evaluated. The proposed species-specific GE-LA-ICP-IDMS method was tested for the analysis of a serum certified reference material (ERM-DA470k/IFCC). The results were in good agreement with the certified value with relative standard deviation values in the range of 0.9-2.7% depending on the data treatment procedure used. Furthermore, the analysis time has been drastically reduced in comparison with previous approaches to less than 15 min. The quantification by species-specific GE-LA-ICP-IDMS allowed us to obtain accurate and precise results not only by analyzing the protein spot in the middle position but also in the adjacent ablation line to the center.

[Evaluation of benign paroxysmal positional vertigo in primary health-care and first level specialist care]. / Valoración del conocimiento del vértigo posicional paroxístico benigno en la atención primaria y especializada de primer nivel.

INTRODUCTION: Benign paroxysmal positional vertigo (BPPV) is the most common cause of vestibular vertigo, but it is not well known in routine clinical practice. OBJECTIVE: To determine the awareness of BPPV outside the ENT clinic. PATIENTS AND METHOD: Retrospective study of sixty-nine patients treated for BPPV between June 2005 and December 2006 at the specialist clinic. We analyzed the routes and details for their referral and the time elapsed since the start of the symptoms. RESULTS: 42 patients (61 %) were referred through the conventional route (primary health-care or non-hospital ENT); 17 patients (25 %) came from the emergency room (one third of them were admitted); the remainder were patients hospitalized for some other problem (5 %) or informal consultations (9 %). Only one patient had been referred with a specific diagnosis of BPPV. The onset of vertigo symptoms before treatment was, on average, 20 weeks (SD, 32 weeks) and was significantly longer among patients coming from primary care (28 weeks) as compared with the other groups (P < .01, Kruskall-Wallis test). The mean time to referral was shorter among patients with idiopathic BPPV or with BPPV secondary to recurrent vestibulopathy whereas it was more prolonged among patients with a concomitant pathology capable of justifying the presence of positional symptoms, such as vestibular neuritis or post-traumatic BPPV (P < .01, Kruskall-Wallis test). The medical cost of treating BPPV prior to referral has been calculated at euro364 per individual (mostly for non-specific medical treatments) instead of the euro136 needed for effective positional treatment. CONCLUSIONS: BPPV continues to be a poorly understood pathology outside specialist neuro-otologic clinics, leading to delays in diagnosis and treatment, as well as the unnecessary consumption of resources.

Valoración del conocimiento del vértigo posicional paroxístico benigno en la atención primaria y especializada de primer nivel / Evaluation of benign paroxysmal positional vertigo in primary health-care and first level specialist care

Introducción: El vértigo posicional paroxístico benigno (VPPB) es el trastorno vestibular más frecuente, pero no parece que se lo identifique bien fuera del ámbito especializado específico. Objetivo: Determinar el conocimiento del VPPB fuera de la consulta otoneurológica. Pacientes y método: Estudio retrospectivo de una serie de 69 pacientes con VPPB tratados en la consulta especializada entre junio de 2005 y diciembre de 2006, analizando las rutas de derivación, sus pormenores y los tiempos transcurridos desde el inicio de los síntomas. Resultados: 42 (61 %) pacientes llegaron por la vía convencional (atención primaria-otorrinolaringólogo extrahospitalario), 17 (25 %) procedían de urgencias (un tercio fueron ingresados); el resto procedía de consultas de pasillo o durante ingresos por otras causas (el 9 y el 5 %, respectivamente). Sólo 1 paciente fue remitido con el diagnóstico específico de VPPB. El tiempo medio de evolución de los síntomas fue de 20 ± 32 semanas, significativamente mayor (p < 0,01, test de Kruskall-Wallis) en la ruta habitual (28 semanas) que en las demás procedencias. Los VPPB remitidos más rápido eran los idiopáticos y los asociados a vestibulopatías recidivantes, y se retuvo más tiempo, con tratamientos médicos inespecíficos, a los pacientes con enfermedad previa que explicara los síntomas posicionales (postraumáticos y tras neuritis vestibular) (p < 0,01, Kruskall-Wallis). El promedio del gasto hasta la derivación fue de 364 euros, frente a los 136 euros necesarios para un tratamiento de reposición efectivo. Conclusiones: El VPPB sigue siendo una enfermedad poco conocida en la atención no especializada, por lo que se retrasan el diagnóstico y el tratamiento y se consumen recursos innecesarios para su resolución

Introduction: Benign paroxysmal positional vertigo (BPPV) is the most common cause of vestibular vertigo, but it is not well known in routine clinical practice. Objective: To determine the awareness of BPPV outside the ENT clinic. Patients and method: Retrospective study of sixty-nine patients treated for BPPV between June 2005 and December 2006 at the specialist clinic. We analyzed the routes and details for their referral and the time elapsed since the start of the symptoms. Results: 42 patients (61 %) were referred through the conventional route (primary health-care or non-hospital ENT); 17 patients (25 %) came from the emergency room (one third of them were admitted); the remainder were patients hospitalized for some other problem (5 %) or informal consultations (9 %). Only one patient had been referred with a specific diagnosis of BPPV. The onset of vertigo symptoms before treatment was, on average, 20 weeks (SD, 32 weeks) and was significantly longer among patients coming from primary care (28 weeks) as compared with the other groups (P < .01, Kruskall-Wallis test). The mean time to referral was shorter among patients with idiopathic BPPV or with BPPV secondary to recurrent vestibulopathy whereas it was more prolonged among patients with a concomitant pathology capable of justifying the presence of positional symptoms, such as vestibular neuritis or post-traumatic BPPV (P < .01, Kruskall-Wallis test). The medical cost of treating BPPV prior to referral has been calculated at 1364 per individual (mostly for non-specific medical treatments) instead of the 1136 needed for effective positional treatment. Conclusions: BPPV continues to be a poorly understood pathology outside specialist neuro-otologic clinics, leading to delays in diagnosis and treatment, as well as the unnecessary consumption of resources

La medicina del deporte en el niño / The sports medicine in the child

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[Attitudes of spanish primary care doctors to migraine]. / Actitud de los médicos de atención primaria españoles ante la cefalea.

OBJECTIVES: To find the attitude of Spanish primary care (PC) doctors to migraine, their ability to solve the problem and the therapy guidelines used. DESIGN: Transversal, descriptive study by means of a questionnaire sent out by mail. SETTING: PC doctors in Spain. PARTICIPANTS: A total of 721 PC doctors from all the health services. MAIN MEASUREMENTS: Approach, specialist referral, therapy preferences, and interest in training were measured through the questionnaire. RESULTS: Of the 1185 doctors to whom the questionnaire was sent out, 721 replied (60.8%); 69.8% showed very great or great interest in migraines; 12.2% referred to a specialist the first episode of migraine without aura; and 42.3%, of migraine with aura. The 32.3% referred the first episode of daily chronic migraine; and 56%, when linked to analgesic abuse. Paracetamol is the preferred medication for 61.2% of doctors in treating light migraine; NSAIDs are for 63.9% in moderate migraine; and tryptans are for 88.1% in severe cases. In pressure migraine, NSAIDs are preferred by 38%. Over 75% stated great or very great interest in training. CONCLUSIONS: Interest in migraines is high. There is considerable room for improvement in the capacity to solve certain kinds of migraines, especially chronic daily migraines. Some therapeutic guidelines are questionable. This, alongside the interest of doctors in training, points to the appropriateness of conducting training on this question.

Actitud de los médicos de atención primaria españoles ante la cefalea / Attitudes of Spanish primary care doctors to migraine

Objetivo. Conocer la actitud de los médicos de atención primaria (AP) frente a las cefaleas, su capacidad resolutiva y las pautas terapéuticas utilizadas. Diseño. Estudio descriptivo transversal, por medio de un cuestionario enviado por correo. Emplazamiento. Médicos de AP de nuestro país. Participantes. Participaron 721 médicos de AP de todos los servicios de salud. Mediciones principales. Se obtuvieron mediante un cuestionario sobre la actitud, la derivación al especialista, las preferencias terapéuticas y el interés en formación. Resultados. De los 1.185 médicos a los que se les envió el cuestionario, respondieron 721 (60,8%). El 69,8% refería interés muy alto o alto respecto a las cefaleas. El 12,2% deriva el primer episodio de migraña sin aura y un 42,3%, la migraña con aura, un 32,3% en la cefalea crónica diaria y un 56% cuando se asocia con abuso de analgésicos. El paracetamol es el fármaco preferido por un 61,2% de los médicos en el tratamiento de la crisis de migraña leve, mientras que en la moderada son los antiinflamatorios no esteroideos (AINE), con un 63,9%, y en la severa, los triptanes, con un 88,1%. En la cefalea tensional, son los AINE, con un 38%. Más del 75% refiere un interés alto o muy alto por la formación. Conclusiones. El interés por las cefaleas es alto. Hay un importante margen de mejora en la capacidad resolutiva en algunos tipos de cefaleas, sobre todo en las cefaleas crónicas diarias. Algunas pautas terapéuticas son discutibles. Esto, junto con el interés demostrado en formación, apunta a la conveniencia de llevar a cabo actuaciones formativas en esta materia

Objectives. To find the attitude of Spanish primary care (PC) doctors to migraine, their ability to solve the problem and the therapy guidelines used. Design. Transversal, descriptive study by means of a questionnaire sent out by mail. Setting. PC doctors in Spain. Participants. A total of 721 PC doctors from all the health services. Main measurements. Approach, specialist referral, therapy preferences, and interest in training were measured through the questionnaire. Results. Of the 1185 doctors to whom the questionnaire was sent out, 721 replied (60.8%); 69.8% showed very great or great interest in migraines; 12.2% referred to a specialist the first episode of migraine without aura; and 42.3%, of migraine with aura. The 32.3% referred the first episode of daily chronic migraine; and 56%, when linked to analgesic abuse. Paracetamol is the preferred medication for 61.2% of doctors in treating light migraine; NSAIDs are for 63.9% in moderate migraine; and tryptans are for 88.1% in severe cases. In pressure migraine, NSAIDs are preferred by 38%. Over 75% stated great or very great interest in training. Conclusions. Interest in migraines is high. There is considerable room for improvement in the capacity to solve certain kinds of migraines, especially chronic daily migraines. Some therapeutic guidelines are questionable. This, alongside the interest of doctors in training, points to the appropriateness of conducting training on this question

Production and release of yessotoxins by the dinoflagellates Protoceratium reticulatum and Lingulodinium polyedrum in culture.

The presence of YTX was confirmed in Protoceratium reticulatum cultures and detected for the first time in Lingulodinium polyedrum cultures, mainly in the cells but also, to a lesser extent, dissolved in the culture medium. The production of yessotoxins (YTXs) by cultures of different strains of P. reticulatum and L. polyedrum was studied with liquid chromatography coupled to fluorometric detection using the dienophile reagent DMEQ-TAD and liquid chromatography-mass spectrometry. When comparing toxin production at different stages of culture growth, larger amounts of toxins were observed in the cellular fraction and in the culture medium at the last stage of the culture (day 21) in both species. Although YTX was detected in culture medium, with this study it was not possible to explain which is the release mechanism of the toxin in the medium.